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Feb 2022
Using samples of small cell lung tumors, a research team led by biologist Dr. Raymond discovered two new ways to induce tumor cell death. By activating ferroptosis, one of two subtypes of tumor cells can be targeted: first, iron-dependent cell death due to oxidative stress, and second, oxidative stress. Therefore, cell death can also be induced in a different way. Both types of cell death must be caused by drugs at the same time to eliminate the majority of the tumor mass. It is currently in clinical trials for cancer treatment. Auranofin, which inhibits the production of protective antioxidants in cancer cells, has been used to treat rheumatoid arthritis for decades. Future clinical trials using this combination therapy will determine the extent to which this targeted treatment option improves the prognosis of small cell lung cancer patients. It is currently in clinical trials for cancer treatment. Lung cancer is the leading cause of cancer death in the United States. Despite evidence of molecular abnormalities in biological specimens, progress in this disease is hampered by the lack of diagnostic markers useful for clinical practice. The majority of patients with lung cancer are still diagnosed at an advanced stage, when prognosis is poor. This article reviews new strategies being studied for the early detection of lung cancer. These strategies involve new methods of imaging (including low-dose computed tomography CT scanning), DNA analysis, and proteomic-based techniques. These strategies have not only improved our understanding of lung cancer but show promise in offering better survival to patients with this deadly disease. Of paramount importance in the search for methods of early detection is the need for the identification of the ideal population to screen, a multidisciplinary approach, and validation of promising techniques.
Dec 2016 DOI 10.14302/issn.2379-8572.joa-16-1366
Idiopathic sudden sensorineural hearing loss (ISSHL) is a commonly seen otorhinolaryngology emergency, and its etiology is still a mystery. In this retrospective clinical study, we aimed to investigate the possible relationship of inflammatory markers derived from CBC such as neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), Red cell distribution width-to-platelet ratio (RPR), lymphocyte-to-monocyte ratio (LMR), mean platelet volume (MPV) and platelet distribution width (PDW) in ISSHL . A total of 50 idiopathic sudden hearing loss patients were included in the study. They were grouped according to their hearing healing levels as recovered, partially recovered and unrecovered. Also 47 age- and sex- matched healthy individuals created the control group. Their complete blood count parameters of NLR, LMR, PLR, RPR, PDW and MPV were recorded. The results were statistically compared to bring out a significant difference between the groups. There was no significant demographic difference between the groups. The comparison of patient group with control group reveal a significant difference in the NLR, LMR and PDW values (p<0.05). The remaining values were not statistically significant. The analysis of these values according to the recovery level of the ISSHL, there was no statistical difference between the groups (p>0.05). We demonstrated for the first time that LMR value was significantly elevated in ISSHL patients. NLR, LMR, and PDW might be indicative for diagnosis of ISSHL. However, we believe that using these parameters for the screening of the prognosis is a clinically useless exercise.
Oct 2015 DOI 10.14302/issn.2329-9487.jhc-15-677
The aim of this review is to compile our understanding of microRNA (miRNA) and its significance in Hypertension (HTN) pathophysiology. The wide spectrum of health disparity is one of the reasons for the dominance of HTN in humans for decades. We are striving hard to understand these variations, and we know to some extent that genetic susceptibilities do exist in HTN. Understanding miRNA will add to the current understanding of the disease process. In later parts, we discussed possible clinical implications of miRNAs in HTN as a biomarker of disease expression and its potential in prognostic and therapeutic applications in HTN.
Nov 2025 DOI 10.14302/issn.3070-3379.jwc-25-5549
This short communication/mini-review immensely emphasizes human health to explicate and elucidate management of the global scourge associated with the determinants and impact of vulnerabilities to extreme hydrologic events and climate change in the absence of risk reduction and their concomitant sequelae. The most effective approach for risk reduction associated with biodiversity, environmental, and health vulnerabilities due to climate change and extreme hydrological events, an ecological framework must take into cognizance exposure, vulnerability, and resilience. This framework emphasizes the significance of understanding the inextricable linkage between ecosystems and human communities are exposed and susceptible to hazards, sensitivity to these hazards, and capacity to cope, adapt and recuperate. Risk reduction incorporates structurally attenuating exposure, strengthening resilience, and sustainably enhancing overall vulnerability management. Extreme weather and climate-associated incidents impinge on human health with consequential morbidity, mortality and socioeconomic challenges and constraints. Climate change and extreme event have altered the frequency, intensity, geographic distribution, and propensity as drivers for change in the future. The indicted variables include hydrological events, such as precipitation, floods and droughts as well as heat waves, wildfires, global warming, extreme temperatures, and hurricanes. The pathways inextricably-linked with extreme events to economic dissipation, human health prognosis and outcomes remain inexplicably diverse and complex; and thus, difficult to predict due to their emergence and reemergence from local, societal and environmental factors which influence disease burden.
May 2025 DOI 10.14302/issn.2379-8572.joa-25-5504
Introduction Angiosarcoma is a rare malignant tumour from fast-evolving and aggressive vascular endothelial cells that accounts for 1% of all sarcomas. The sinus location of angiosarcoma is exceptional. The clinical polymorphism of this tumour may cause a delay in diagnosis. Risk factors are not always understood. However, a history of radiation therapy for locoregional cancer and/or lymphedema is most commonly found. The prognosis remains bleak with an overall five-year survival of 35 to 40%. Objectives The authors discuss the diagnostic, therapeutic and prognostic modalities and difficulties of this tumour. Observation: The authors report a case of maxillary sinus angiosarcoma confirmed by radio-induced secondary CD34 immunohistological staining in a 40-year-old man having a history of hemangioendothelioma treated with conservative endoscopic surgery and adjuvant radiotherapy 15 months earlier. Discussion This lesion is rare in the ENT sphere and may be confused with a benign tumor in its early stages. Only histological examination with immunohistochemistry can confirm the diagnosis (factor VIII, CD34 and CD31 antigens). Treatment consists of a wide resection followed by radiotherapy, hence the need for early diagnosis in the metastatic phase, first-line treatments include doxorubicin or paclitaxel weekly. Conclusion Radio-induced angiosarcoma is a rare malignant tumour, it occurs in patients who have received conservative treatment and radiation therapy for nasosinusitis cancers. Angiosarcomas of the nasal passages remain a diagnostic and therapeutic challenge due to their local and general aggressiveness.
Dec 2024 DOI 10.14302/issn.2470-0436.jos-24-5322
Studies show that individuals with limited health literacy skills experience worse health outcomes in a multitude of chronic diseases including glaucoma. These patients have poorer compliance, worse disease understanding and greater disease progression. The main purpose of our study was to evaluate the knowledge about glaucoma basic concepts in patients with this disease. A 24 question survey was given to patients followed by the glaucoma department, by phone or in person. Epidemiological data and personal therapeutic regimens were collected as well as data concerning the pathophysiology, treatment and prognosis of the disease. Survey responses were obtained from 79 patients with a mean age of 72 years old. Most of the patients had a low education level. The majority of patients could not enumerate glaucoma risk factors (74.5%), their glaucoma type (94.9%) or the best glaucoma definition (57%). However, they were able to relate the disease to a high IOP (75.9%) and the possibility of it leading to blindness (96.2%). We believe that patients, when observed in their glaucoma appointments, tend to retain information related to the prognosis and consequences of the disease and not focus on the understanding of its pathophysiology, causes and mechanisms, which may reflect their concern about their own future. However, this may lead to some misconceptions about the definition of glaucoma and specially about what can cause this disease. Some investment should be done to improve health literacy in the glaucoma population, with appropriate language and handed material.
Jul 2024
Vitamin D deficiency is known to affect bone healing 1. In this case report, the potential link between vitamin D, calcium, and phosphorus deficiency and periapical lesions is explored, offering fresh insights into the complex relationship between systemic health and dental pathology. This pathology is caused by a mutation in the PHEX gene on chromosome X, which encodes a protein necessary for vitamin D synthesis and phosphate reabsorption, which are essential for the mineralization of bone and teeth 23. A 25-year-old man with rickets and vitamin D deficiency presented to our clinic with recurrent abscesses in multiple teeth. Radiographic imaging revealed periapical lesions on multiple teeth with advanced endo-perio lesions on teeth 26 and 16, and a negative cold test on all his teeth. Despite successful endodontic treatment, the patient’s compromised metabolic healing raised concerns about the prognosis. This case report highlights the intricate interplay between vitamin and mineral deficiencies and dental health, emphasizing the need for cautious management and long-term follow-up.
Jun 2024 DOI 10.14302/issn.2474-7785.jarh-24-5141
Efforts to mitigate or prevent painful disabling osteoarthritis have been pursued for more than a century with limited success. This current overview briefly summarizes how selected beliefs and behaviors, including coping and stress management approaches are potential mediators or moderators of osteoarthritis pain and its overall common adverse prognosis and outcome. Published data housed predominantly in PUBMED, PUBMED CENTRAL, SCIENCE DIRECT, and GOOGLE SCHOLAR sites and pertaining to selected aspects of the literature of current interest, cumulative results reported as of May 30, 2024, show a modest to strong rationale exists for considering the abovementioned factors in efforts to reduce pain and enable daily functions. Accordingly this line of research should be continued, and translated clinically without undue delay, especially in the face of increases in the aging population and osteoarthritis prevalence and undue suffering.
May 2024 DOI 10.14302/issn.2470-0436.jos-23-4493
Background Beta-Sitosterol (SIT) is an active TCM compound employed to treat diabetic retinopathy (DR). A network pharmacology approach to understanding the active ingredients and the therapeutic mechanisms underlying DR has not been pursued. Methods The potential targets for DM were identified according to the MedGene, Gendome, HGNC, OMIM, GeneCards, PheGenI, GEO, and STRING database. The herb and components were predicted and screened by network pharmacology through oral bioavailability and drug-likeness filtration using the Traditional Chinese Medicine Systems Pharmacology Analysis Platform database. A network pharmacology prediction and network analysis were used to predict the active potential targets and pathways of SIT application to DR. Results We found the Top 15 DR-related genes by screening in 9 databases. 26 kinds of TCM and nearly 300 kinds of active ingredients. SIT exists in 10 kinds of DR-treat TCM. The comprehensive network pharmacology approach was successful in identifying 23 kinds of core genes for SIT treating DR. ERBB3 and IGF2-related PI3K-Akt signaling pathway or EDN3, IGF2 and SPP1-related receptor ligand activity pathway might be the main pharmacological targets, and pathways in DR. We speculated that SIT was effective for the treatment of DR. Conclusion Based on the network pharmacology, we predicted the potential targets of SIT in treating DR and helped to illustrate the mechanism of action. Our study identifies key genes and pathways associated with the prognosis and pathogenesis of DR from new insights.
Mar 2024 DOI 10.14302/issn.2372-6601.jhor-24-4962
While highly curable in developed countries, Hodgkin's lymphoma (HL), remains a significant challenge for resource-limited ones. This study aimed to describe the profile of HL in Togo. This was a retrospective, descriptive study conducted at the Clinical Hematology Department of the Campus University Hospital Center in Lomé, Togo. It focused on patient records diagnosed with HL between January 1, 2006, and December 31, 2022. Various variables such as age, gender, histological type of HL, Ann Arbor stage, prognostic classification, therapeutic protocol used, and patient outcomes were examined. The annual incidence of HL was 1.5 with a mean age of 38.7 years (range 12-63). Lymph node enlargement was the primary clinical sign (100%). Histologically, classical HL was found in 21 patients (87.5%). Staging was conducted for 16 (66.7%) patients, among whom 11 (66.7%) were at an advanced stage, and 6 (37.5%) had an unfavorable prognosis. The ABVD protocol was used in 13 patients (54.2%), receiving between 1 and 6 cycles. One patient achieved complete remission (4.1%), three deceased (12.5%), and 17 (71%) were lost to follow-up. Hodgkin's lymphoma prognosis remains unfavorable with low remission rates in Togo. Improving the technical facilities will ensure better management of this lymphoma.
Mar 2024 DOI 10.14302/issn.2997-2108.jcc-23-4838
Among the reproductive cancers cervical cancer has special place, because the second most frequent cause of cancer-related death among women worldwide. The studies suggested that the PI3K/mTOR/AKT signaling pathway is associated with certain reproductive tumors. A lot of research is ongoing for understanding this pathway evidence of its role in promoting tumorigenesis and recent progress in the development of therapeutic agents that targeted PI3K/AKT. In this a single-arm study included 34 Azerbaijan population woman with HPV-negative cervical tumors. The core genes of PAM signaling pathway were analyzed using RT-PCR method. Our preliminary results suggested that tumorgenesis of HPV-negative cervical cancer patients approximately 25% associated with dysregulation of PAM signaling pathway reason which are core genes alteration. The overall survival times in the PAM-active and PAM-stable patients were not significantly varies. However, the main factor for overall survival times were treatment strategy: both PAM-active and PAM-stable patients who received radiation therapy alone had a shorter overall survival than patients who received radiation plus chemotherapy. The patients with alteration of ATK1 and mTOR genes in PAM signaling pathway had poor prognosis then patients with PIK3CA and PTEN mutation
Jan 2024 DOI 10.14302/issn.2574-4496.jtc-23-4835
The prevalence of thyroid cancer is rapidly increasing worldwide, majorly due to overdiagnosis and overtreatment methods of differentiated thyroid cancer. The emergent and potent preclinical models, high-throughput molecular techniques, and genetic expression microarrays have delivered deeper insights into understanding the molecular features in oncogenesis. Thus, molecular markers have become a promising tool in managing thyroid cancer for differentiating benign and malignant tumors, prognosis, recurrence, and determination of novel therapeutic targets. In differentiated thyroid cancer, molecular markers are majorly utilized for guiding the development of indeterminate thyroid nodules on fine needle aspiration (FNA) histologies. Dissimilar to this, in advanced thyroid cancer, molecular markers permit targeted treatment of a modified signaling cascade. Determining causal mutation of targeted kinase receptors in advanced thyroid cancer can depict a promising treatment strategy with mutation-targeted tyrosine kinase inhibitors to reduce progression and eradicate mutation effects when conventional methods fail to manage. This review will focus on the molecular landscape and discuss the impact of molecular markers on the prognosis, treatment, and surveillance of differentiated and anaplastic thyroid cancer.
Sep 2023 DOI 10.14302/issn.2641-5518.jcci-23-4743
Pancreatic adenocarcinoma is one of the leading causes of cancer-related death in the United States. Rarely, a tumor at the head of the pancreas can invade adjacent structures to cause a gastrointestinal bleed (GIB). We present a 78-year-old female whose massive upper GIB was the initial presentation of metastatic pancreatic adenocarcinoma. Prior reports have documented GIB in patients with known pancreatic cancer, but in our case, the diagnosis was made after the bleed was controlled, making this presentation rare and associated with a poor prognosis.
Jan 2023 DOI 10.14302/issn.2329-9487.jhc-22-4362
Objective To describe the epidemiological, clinical and arterial Doppler ultrasound aspects of abdominal aortic aneurysm (AAA). Material and Methods This is a prospective study with descriptive and analytical aims carried out from January 2019 to March 2022 (3 years) at the cardiovascular exploration center (CEC) "Saint-Esprit" of the association of the people's doctors for the research on cardiovascular diseases (AMP-MCV), at the clinic "Le Printemps" and at the University Hospital of Kara. All patients who underwent arterial Doppler ultrasound of the lower limbs for any reason in these centers during the study period were included. Ultrasound scans were performed or confirmed by a physician with a diploma specializing in vascular Doppler ultrasound. Results We retained 32 Doppler ultrasound scans out of 739 performed for AAA with a frequency of 4.38%. The mean age was 73.5± 9.07 years. The sex ratio M/F was 1.4. The cardiovascular medical history (84.38%) found was: hypertension (33.33%), diabetes (18.52%), dyslipidemia (33.33%) and a combination of diabetes and hypertension (14.81%). The circumstances of discovery were: downstream MI ischemia (72%), incidental finding on abdominal ultrasound (15.63%) and De bakey sign (6.25%). The location of the aneurysms was subrenal (84.4%), suprarenal (9.4%) and both (6.2%). AAAs were fusiform (71.9%) and saccular (28.1%). The size of the aneurysms was greater than 5 cm in 78.17% of patients. High blood pressure increases the probability of the occurrence of subrenal AAA while dyslipidemia increases the occurrence of fusiform AAA. Diabetes increases the probability of occurrence of AAA larger than 7cm. AAAs were thrombosed in 75% of patients. There were extensions of the aneurysms to the iliac arteries in 70.59%. Downstream embolic complications represented 46.88%, in the form of occlusions and tight stenoses. Spontaneous mortality was 81.24%. Conclusion Arterial Doppler ultrasonography is a very important tool in the screening, positive and lesion diagnosis of AAA. The risk factors for AAA are: age over 60 years, male gender, hypertension, diabetes and dyslipidemia. Early detection remains essential, because the spontaneous prognosis is poor.
Jul 2022 DOI 10.14302/issn.3070-3360.ijco-22-4231
Nidana Panchaka is one of Ayurveda's several diagnostic procedures. It is the most significant way for determining the source of an illness, as well as predicting its prognosis. Nidana Panchaka comprises of five items which are Nidana (etiological factors), Purvaroopa (primordial symptoms), Roopa (signs and symptoms), Upashaya (like and dislike) and Samprati (etiopathogensis) (etiopathogensis). Diagnosis of sickness depends on Tridoshas which are Vata, Pitta, Kapha which are responsible for any disease that arises in the body. These imbalances in the Doshas of the body are caused by etiological variables such as a person's lifestyle and eating habits. Prior to seeking therapy for a condition, a proper diagnosis is required. There are numerous additional procedures for diagnosing the ailment, such as Ashtavidha Pareeksha, Dashavidha Pareeksha, and Chaturvidha Pareeksha, but the focus of this article is on the significance of Nidana Panchaka.
Mar 2022 DOI 10.14302/issn.2641-4538.jphi-22-4113
Objectives Our study aims to determine the trend of the antibody titer and assess the efficacy of the vaccine. Methods It was conducted on 983 healthcare professionals between 27 February 2020 and 22 October 2021 at the Local Health Authority (ASL) of Rieti. Workers voluntarily underwent serological testing before vaccination (T1), at least 15 days after vaccination (T2), and at least 150 days after vaccination (T3). We picked individuals who had received two doses of the vaccine. As for positivity, we assessed incidence – and therefore symptomatology – in three time intervals. We used a contingency tables for the analysis and tested the relation to the chi-square test and ANOVA test. Regarding differentials in terms of antibody capacity, we considered different time intervals: the methodological approach was the same. Results The average value of the dimeric serological testing at T1 was equal to 28.80 AU/mL, which increased to 220.55 AU/mL at T2, and then decreased to 143.62 AU/mL at T3 (P = 0.000). At T2, the number of people with a protective titer was equal to 95.96% of the total; at T3, it was equal to 96.39% (P = 0.019). Before the vaccination campaign, 75 workers tested positive (25 paucisymptoms, 4 severe symptoms). After vaccination, 14 workers tested positive: almost all were asymptomatic. Conclusion Vaccination determines a statistically significant variation of the average value of antibody titer, a statistically significant reduction of positive swab tests and a better prognosis.
May 2021 DOI 10.14302/issn.2470-5020.jnrt-21-3843
Background Perimedullary arteriovenous fistulae, or type IV spinal cord arteriovenous malformations, are very rare and not well-known lesions. This paper aims to present our endovascular experience with these lesions. Methods We report our experience with 4 patients with perimedullary arteriovenous fistulae, subtypes b and c (macrofistulae), exhibiting severe neurological impairment. The patients were treated with endovascular embolization. Results Complete fistula eradication was achieved in all of them. One complication occurred. We discuss the natural history, pathophysiology, clinical presentation, prognosis and embolization techniques, along with the angiographic and clinical outcomes. Conclusion Our experience with endovascular embolization as an upfront treatment allowed us to eradicate these lesions in a safe and effective way, arresting the clinical worsening and reversing partially or completely the neurological injury in most of our cases.
Feb 2021 DOI 10.14302/issn.2381-862X.jwrh-21-3708
Fetal mesentric lymphangioma, a congenital fetal abdominal cystic malformation has a rare occurrence. Antenatal detection, its differential diagnosis, prenatal management options and parental counseling regarding postnatal prognosis of such a case are thus rarely discussed. We report two cases of antenatally detected fetal cystic abdominal mass with a provisional diagnosis of abdominal lymphangioma. Postnatally one of the neonates developed features of intestinal obstruction and required surgical intervention. Intra-operative findings and histopathology report confirmed a mesentric lymphangioma. The other neonate had associated subcutaneous lymphangiectasia in left lumbar region, left sided inguinal hernia, undescended testes and was asymptomatic postnatally and managed conservatively.
Jan 2021 DOI 10.14302/issn.2470-5020.jnrt-20-3619
Circular RNAs (circRNAs) are recently rediscovered eukaryotic molecules that form a covalently closed-loop structure through a special type of alternative splicing known as backsplicing. These closed-loop structures are highly stable and resistant to RNase degradation, and are thereby expressed in a tissue-specific and evolutionarily conserved manner, which regulates the expression of proteins and mRNAs that are involved in the metabolic pathways associated with specific diseases. Recent evidence of the ubiquitous expression of circRNAs in cancer under physiological and pathophysiological conditions indicates that dysregulation of gene and protein expression might promote tumorigenesis and carcinogenesis, and that circRNAs have important clinical significance in the diagnosis, treatment, and prognosis of cancer and other diseases. This review provides a brief introduction to the characteristics, formation, and function of circRNAs. Some of circRNAs act as microRNA (miRNA) sponges to regulate the level of transcriptional splicing and the expression of parental genes through the circRNA-miRNA-mRNA regulation axis. We summarize recent progress in above-mentioned circRNAs associated with Alzheimer's disease (AD).
Dec 2020 DOI 10.14302/issn.2578-2371.jslr-20-3362
Background and Aim Gallbladder (GB) cancer is a highly fatal malignancy and approx. 10% new cases are diagnosed every year in India. The GB cancer has poor prognosis due to progressive nature. Understanding of risk factors that lead to GB development is urgently required for better management of the disease. Presence of stones in gall bladder generates varied mucosal reactions, which leads to different types of histopathological changes in mucosa. Here, our aim is to study the correlation between various types of mucosal responses e. g. inflammation, hyperplasia, metaplasia and carcinoma with different characteristics e. g. number and morphology of gallstones both in males and females. Materials and Methods A retrospective study of gallstones was performed on 438 cases of cholecystectomies operated laparoscopically based on the histological changes. Out of 438 cases, 394 (89.95%) were associated with gallstones and the rest 44 (10.05%) belonged to acalculous cholecystitis. The mucosal changes in calculous gall bladder were studied in 394 cases and its correlation with number and types of observed gallstones were evaluated. Tissue sections were taken from the fundus, body, neck and abnormal area of gallbladder for histopathological studies. Results Our study has revealed the higher incidence of inflammatory changes in males, while gall bladder hyperplasia, intestinal metaplasia and cancer cases were found mostly in females. Conclusion Our study showed that changes in the number and morphology of gallstones are directly associated with the mucosal changes in gallbladder e.g. inflammation, hyperplasia, metaplasia and gall bladder carcinoma.
Jun 2020 DOI 10.14302/issn.2574-4526.jddd-20-3410
Glandular-cystic bladder cystitis is a rare, benign non-tumor condition, preferentially located on the area of the bladder trigone and can simulate a malignant tumor. It is a benign reactive metaplasia of the bladder submucosa, characterized by hyperplasia of the islets of Von Brunn and cystic. It is classified among reactive epithelial anomalies of the urothelium, such as islet hyperplasia of Von Brünn, cystitis, glandular cystitis, nephrogenic metaplasia and epidermoid metaplasia. It presents a clinical diagnostic challenge having the expression of a simple recurrent cystitis and misleading the radiological diagnosis evoking a malignant tumor of the bladder. Its certainty diagnosis is histological. We report the case of a 38-year-old young man who consulted for recurrent cystitis. The CT scan showed a vegetative tissue structure of the middle and left medial vesical floor, sawtooth 3 cm long axis suspecting a tumor of the bladder. The patient underwent transurethral resection of the bladder lesion. The histological and immunohistochemical examination concluded with glandular and cystic cystitis (minor form). In the light of this observation, we will discuss the diagnostic difficulties, the pathophysiological mechanisms, the radiological aspects, the anatomopathological, therapeutic features and the prognosis of this rare condition. The literature regarding this entity has been reviewed and the differential diagnosis was discussed.
Aug 2019 DOI 10.14302/issn.2572-3030.jcgb-19-2973
Head and Neck cancer (HNC) is one of the most prevalent and lethal cancer globally. The incidence of tobacco-induced HNC is gradually increasing in low and middle income countries. Among the various causative factors associated with HNCs, tobacco and alcohol play synergistic effect and are frequently associated with the risk of HNC. Tobacco-induced HNCs show distinct genetic and epigenetic alterations leading to different clinical outcomes in comparison to HPV-infected HNCs. Tobacco-induced HNCs are often associated with tumor aggressiveness, poor prognosis and low or nil prevalence of HPV infection. Apart from carcinogenic effects of these causative factors (use of tobacco products, alcohol intake and HPV or EBV infections), recent studies show that exposure to these factors alter/disrupt the regulation of non-coding RNAs including the long non-coding RNAs (lncRNAs). Altered lncRNA regulation is brought about by signalling networks that regulate cellular differentiation, apoptosis, angiogenesis and inflammatory pathways which play key functions in the genesis of different cancers including HNCs. There are numbers of studies supporting the emerging role of lncRNAs in development of HNC; however, reports connecting lncRNAs expression and addiction habits in HNC are still preliminary and sparse. Therefore, identification and characterization of lncRNAs that are differentially expressed upon exposure to risk-factors can serve as unique therapeutic targets and potential biomarker(s) for effective treatment of HNC subtypes. In this short review, we briefly reviewed the emerging role of lncRNAs in tobacco and alcohol induced HNCs.
Jul 2019 DOI 10.14302/issn.2470-0436.jos-19-2904
This case series presents 2 patients (67 and 58 year old females) with resolving vitreous hemorrhage in the setting of diabetic retinopathy. Both patients had around 50% of the retina still visible and the hemorrhage was confined at the posterior vitreous cavity near the retina, hence, a partial pan retinal photocoagulation (PRP) was feasibly applied. On B-scan, both cases showed a liquified vitreous with posterior vitreous detachment (PVD). For both patients, vitreous hemorrhage resolution occurred at less than 4 months from onset and consequently PRP was completed. Vitreous hemorrhage differs with bleeding in other tissues due to the presence of vitreous collagen matrix which promotes rapid clotting and hinders resolution of hemorrhage by preventing passive diffusion and delay in inflammatory cellular response. The prognosis for clearing hemorrhage was better when the fundus reflex was brighter and the retina adjacent to the ora serrata was visible. Clearing occurred sooner when hemorrhage was retrohyaloid rather than in the vitreous gel. In diabetic eye, the vitreous undergoes metabolic derangements resulting in premature liquefaction and abnormal vitreoretinal adhesion leading to traction and membrane formation. Partial PVD has also been associated with higher rate of diabetic retinopathy progression since it serves as scaffold for growth of neovascular tufts.
Dec 2018 DOI 10.14302/issn.2578-8590.ipj-18-2547
This opinion challenges fatalistic framing of hepatic cancer prognosis. It advocates for nuanced discussion of staging, treatment advances, and supportive care, with clear communication to patients and families.
Dec 2018 DOI 10.14302/issn.2641-5526.jmid-18-2488
Background: Triple Negative Breast Cancer (TNBC) is a type of breast cancer with very bad prognosis. Predicting the histological grade (HG) and the lymph nodes metastasis is crucial for developing more suitable treatment strategies. Methods: We present the main clinical and pathological variables to predict the histological grade and lymph nodes metastasis via novel machine learning techniques. These variables are currently being used for prognosis and treatment in medical practice. This analysis was performed using a database of 102 Caucasian women diagnosed with TNBC. The results were cross-validated using random simulations of this dataset. Results: HG was predicted with an accuracy of 93.8% using a list of 6 prognostic variables with significant implications: Ki67 expression, use of Oral contraceptives, Col11A1 expression, Col11A1 score, E-cad truncated and Tumor size. The lymph nodes metastasis was predicted with an accuracy of almost 85% using only 6 prognostic variables: Vascular invasion, Tumor size, Perineural invasion, Age at diagnosis, Ki67 expression, and Col11A1 score. This analysis also served to establish the median signatures of the groups with and without lymph node metastasis, and proved the existence of a kind of small-size tumors (around 2.15 cm) with lymph node metastasis but not showing vascular and perineural invasions and higher protein Col11A1 score. Besides, these signatures proved to be very stable. Conclusions: The additional information conveyed by the prognostic variables found in these two classification problems provides new insight about the genesis and progression of this disease and can be used in medical practice to improve decisions in patient diagnosis and further treatment.
Nov 2018 DOI 10.14302/issn.2572-3030.jcgb-18-2428
Head and neck cancers (HNCs) are the most prevalent and aggressive type of cancers. Genetic, epigenetic, environmental and viral risk-factors are associated with HNC carcinogenesis. Persistent infection of oncogenic human papillomaviruses (HR-HPVs) represent distinct biological, molecular and epigenetic entities in HNCs. There are three main epigenetic mechanisms that regulate transcription, these are DNA methylation, histone modifications and alteration in non-coding RNA networks, which can dissected to identify innovative and accurate epigenetic biomarkers for diagnosis and prognosis of HNC patients. Due to the lacunae of accurate distinctive biomarkers for the definite diagnosis of HNC, the identification of predictive epigenetic markers is necessary that might modify or increase HNC patient’s survival. In this mini review, we briefly summarize the current knowledge of different epigenetic biomarkers in HNC.
Nov 2018 DOI 10.14302/issn.2689-5773.jcdp-18-2435
Theobjective of reviewing Hairy Cell Leukaemia may be achieved by emphasising the condition as a category of chronic lymphocytic leukaemia with hair like protrusions of the cytoplasm situated on the aberrant B cell surface. An infrequent disorder, hairy cell leukaemia contributes an estimated 2% of lymphoid malignancies with a male predominance ( M:F ::4-5:1). A majority (90%) of instances depict a mutant immunoglobulin heavy chain variable region (IGHV). The haematopoietic stem cells (HSCs) elucidate a B raf proto-oncogene( BRAF V600E gene- 7q34). An enlarged spleen may be discerned along with pancytopenia as a presenting symptom. The morphology of specific hairy cell leukaemia may be on account of an in vitro interaction of primary hairy cells with BRAF genes and MEK inhibitors, which incite a prominent MEK - ERK dephosphorylation, thereby curtailing transcriptional outpourings of the RAS- RAF- MEK-ERK pathway. Bone marrow aspiration or bone marrow trephine biopsy may be inadequate for diagnosis in 30%-50% individuals on account of extensive fibrosis and the bone marrow sections depict a characteristic interstitial infiltration of leukaemia cells.. Reticulin stains exhibit broad, dense reticulum fibres surrounding the individual or aggregates of leukaemia cells with fibrotic extensions into the abutting bone marrow. The immune reactivity of classic hairy cell leukaemia is concurrent CD19+ CD20+,CD 11c+, CD25+, CD103+ and CD123+. Immune staining for CD20+, annexin 1 and VE1 (a BRAF V600E stain) validates the diagnosis and analyses the extent of malignant bone marrow infiltration. Application of inhibitors of BRAF V600E gene is efficacious in patients resistant to standard therapy. An enlarged spleen beyond 3 centimetres of the left costal margin, a white blood cell count greater than 10000 cells/µL , circulating hairy cells in the peripheral blood greater than 5000 cells/µL and a β 2 micro-globulin level exceeding twice the normal range of 3 µg/ml delineate an inferior outcome with resistance to purine analogues (PNAs). CD38+ elucidation ensures a worse prognosis as does the lack of an IGHV mutation with a reduced overall survival,. A lack of BRAF genetic mutation in 10% -20% of hairy cell leukaemia comprises of inferior prognosis.
Sep 2018
Epilepsy comprises a series of chronic neurological disorders characterized by recurrent seizures. Over 50 million people are affected by epilepsy worldwide. In addition, genetic components capable of predicting epilepsy predisposition and antiepileptic drugs response would lead to the development of promising treatment and a better prognosis of the disease. Several genes and their variants have been investigated whether they could affect the onset of epilepsy. The brain-derived neurotrophic factor gene, the ATP-binding cassette subfamily B member and the cytochrome P450 are the most common polymorphic genes related to epilepsy. Early identification of risk factors for epilepsy should optimize treatment and prognosis. The characterization of genetic polymorphism contribute to the selection of the most promising antiepileptic therapy and avoidance of drug resistance. The development of biomarkers to estimate the risk of epilepsy and drug resistance would have a clinical impact on the treatment of the disease and on anti-epileptic drug therapy.
Aug 2018
Background: Co-morbidities are associated with increasing risk of mortality, hospitalizations and costs of treatment in Chronic Obstructive Pulmonary Disease patients. Identification of Co- morbidities related to COPD phenotypes may guide individualized therapies and achieve better prognosis. Methods: A prospective study of one hundred ten patients of confirmed COPD diagnosis were carried out and divided into five different phenotypes with related co-morbidities. History taking, clinical examination, Chest X-ray, Computed chest Tomography, laboratory investigations, arterial blood gas, Echocardiography and Electrocardiography were done for all patients. St. George’s Respiratory Questionnaire, COPD assessment test (CAT score) and BODEx (BMI, FEV1, dyspnea and exacerbations) were used for assessment of disease impact on quality of life, severity, and exacerbation respectively. Results: Emphysema group were 31% among all cases with mean age 61.8±9.1, frequent exacerbator group and Chronic bronchitis phenotype were 18% with mean age 64.4±11.3, and 48.8±9 respectively. COPD with bronchiectasis group were 19% with mean age 60.3±6 and Asthma COPD Overlap Syndrome (ACOS) were 12% with mean age 62.8±15.8. There was significant difference as regards age between different group of phenotypes P- value <0.001. There was significance difference in BODEx index and in (CAT) score among different COPD phenotypes P-value 0.020, 0.001 respectively. There was significant difference in all items of SGRQ among different COPD phenotypes P–value 0.001. Diabetes was commonly presented in 50 % ACOS cases, Ischemic heart disease was present more in Emphysema 22.9%, Osteoporosis was more in COPD with bronchiectasis 28.6%, Cor-pulmonale was more present in frequent excerbator 65%, and Anemia more common in COPD with bronchiectasis 23.8%. Depression was more common in frequent excerbator phenotype (45.0 %). Gastro-esophageal reflux was the most common co-morbidities (58 %) then cor-pulmonale 41.8%, systemic hypertension 40 % and pulmonary hypertension 28%. Conclusion: The presence of significant co-morbidities is important modifying risk factors for severity in COPD. They contribute to the overall severity in individual patients, have a major impact on quality of life, and major causes of hospitalization. Co-morbidities can be associated with any clinical phenotype.
Dec 2017 DOI 10.14302/issn.2470-5020.jnrt-17-1803
Introduction: Non epileptic seizures (NES) are little reported in our country. Case report: We report 2 observations of 4 years old girls, with normal psychomotor development, and frequent paroxystic seizures, characterized by stereotyped movements of the members, occurring during sleep onset or deep sleep. Electroencephalogram Sleep records showed brief discharges of spikes and spikes-waves. Magnetic Resonance Imaging was normal. Suspicion of NES associated with epilepsy was based on the following arguments: mild regression of the seizures frequency after using antiepileptic drug video records of the seizures strongly suggestive of masturbation seizures, masturbation seizures are triggered by the girls and stopped on order, best regression of the seizures frequency after adjunction of trihexiphenidyl. Moreover, the authors make a review of literature on the NES. Conclusion: The early diagnosis of the NES allows to avoid the inadequate treatments and an improvement of the prognosis.
Dec 2017 DOI 10.14302/issn.2997-2086.jfs-17-1846
Introduction: Data support the use of both ultrasound (US) and magnetic resonance imaging (MRI) in the prenatal prognostication of congenital diaphragmatic hernia (CDH). The aim of this study was to examine our experience and learning curve with both of these diagnostic tools in the setting of a new fetal program. Materials and Methods: This is a case series performed as a quality improvement measure. Fetuses were identified at a single tertiary institution with both ultrasound lung-to-head ratio (LHR) and MRI fetal lung volume from December 2012 until July 2016. Prenatal and postnatal data were collected. Statistical analysis was performed and a p-value of <0.05 was considered significant. Results: Twenty-one patients met inclusion criteria. Inaccurate LHRs were found in 26.9% (7/26) of patients, with the lack of a four-chamber heart view as the most common inaccuracy (5/26, 19.2%). Patients with only some or no stomach in the thoracic cavity on fetal MRI had 100% survival to discharge. Discussion: Accurate prenatal prognostication of CDH is challenging. We identified a pitfall in attaining LHR that can be easily identified, and that may influence the accuracy of the measurement. Furthermore, stomach position on MRI is a relatively newly described quick, easy, and reproducible metric for predicting prognosis.
Nov 2017 DOI 10.14302/issn.2471-2175.jdrt-17-1760
Metastatic melanoma is a very deadly type of skin cancer with poor prognosis and low 5-year survival rates. Until recently, patients with metastatic melanoma had very few treatment options, which only included dacarbazine and aldesleukin. In 2011, the first checkpoint blocker, ipilimumab was approved for the treatment of unresectable metastatic melanoma but its success was eclipsed by low response rates and high incidence of adverse events. Later in 2014, anti-PD-1 antibodies, nivolumab and pembrolizumab were approved for the treatment of metastatic melanoma. With comparatively high response rates and manageable safety profile, PD-1 blockers were remarkably successful in the treatment of melanoma and also other cancer subtypes such as non-small cell lung cancer and metastatic urothelial carcinoma. This article highlights the success of anti-PD-1 antibodies, discusses the mechanism of PD-1:PD-L1/2 pathway, responses of melanoma patients to PD-1 blockers and the research on improving response rates to PD-1 blockers.
Aug 2017 DOI 10.14302/issn.2473-1005.jdoi-17-1486
Background: Furcation involvement is characterized by periodontal disease invading furcation regions of multi-rooted teeth. Treatment modalities are scaling and root planning and surgical management such as osteoplasty or ostectomy, odontoplasty, bicuspidization, root resection and hemisection. Periodontally compromised maxillary molars generally have poor prognosis because of inter radicular loss of attachment, and difficulty in access and treatment. Root resection is procedure by which one or more of the roots of a tooth are removed at level of furcation while leaving crown and the remaining roots in function. Case: A 58 year-old female patient applied to Periodontology clinic with complaints of sensibility and gingival recession in teeth number 16 and 26. Both teeth were completely exposed due to severe attachment loss in distobuccal root. There was also second degree mobility on the right molar and third degree mobility on the left molar teeth. Flapless root resection were planned after root canal therapy. After local anesthesia, distobucal roots were resected by high speed rotary motor with adequate irrigation at the level of the furcation roof. A small cavity was prepared and retrograded with glass ionomer cement. A platelet-rich fibrin membrane was obtained from patient’s blood and stitched to the distal surface of right first molar. Left first molar area was left uncovered. Recovery was followed on 2nd, 8th week and 6th month. When healing was compared between left and right sides, no mobility was observed and a slight redness and swelling was observed on the right side at 2nd week. At 8th week, there was no difference in clinical appearance. At 6th month, all complaints of the patient were gone and prognosis of the teeth was good.
Jun 2017 DOI 10.14302/issn.2574-4526.jddd-17-1557
Background and Aims: Establishing the degree of fibrosis is important in determining the prognosis of patients with chronic liver disease. Acoustic Radiation Force Impulse Imaging (ARFI) has been validated as a reliable method to estimate liver fibrosis. It remains unclear if ARFI readings may be a useful way to stage patients with established cirrhosis and predict the development of complications. The aim of this study was to determine if ARFI liver stiffness measurements correlate with the severity of liver disease in patients with cirrhosis, and predict the development of complications and decompensation. Methods: All patients attending our institution who had a prior clinical diagnosis of cirrhosis and an ARFI liver stiffness measurement (LSM) over 26 months were included. Area under the receiver operating characteristic (AUROC) curves were calculated for ARFI detection of any complication, any varices, medium or large varices, moderate or severe ascites, encephalopathy, Child Pugh Grade B or C and MELD ≥15. Results: ARFI LSM did not correlate with complications: any complication (AUROC 0.672), any varices (0.631), medium or large varices (0.610), moderate or severe ascites (0.681), Child Pugh B/C (0.691) or MELD ≥15 (0.711). Hepatic encephalopathy did correlate with higher LSM (0.854), but only in a small number of cases. Conclusion: ARFI in patients with cirrhosis does not correlate with the presence of portal hypertension or decompensated liver disease.
Mar 2017
This article examines how HLA‑DRB1 allele mismatching influences outcomes after hematopoietic stem cell transplantation. It reviews graft‑versus‑host disease risk, engraftment, and survival metrics in the context of donor matching strategies. The findings support careful allele‑level typing to optimize donor selection and improve post‑transplant prognosis.
Jan 2017 DOI 10.14302/issn.2379-8572.joa-16-1399
Aim: The relation between inflammation and cancer has been known since the 19th century. However, investigations on the pathogenesis and pathophysiology of this relation have begun recently. It was demonstrated that increased neutrophil/lymphocyte ratio is a poor prognostic factor in some malignancies. The present study aimed to determine whether preoperative neutrophil/lymphocyte ratio has a prognostic value in larynx cancer. Method: Preoperative blood analyses of 139 patients, who underwent subtotal or total laryngectomy for larynx cancer between 2003 and 2013 at Marmara University School of Medicine, Department of ENT, were retrospectively evaluated. Neutrophil/lymphocyte ratio (NLR) was calculated dividing absolute neutrophil count by absolute lymphocyte count. Optimal cut-off value for NLR was determined by receiver operating characteristics (ROC) curve analysis. Statistical analyses were done using IBM SPSS statistic 22.0 (IBM SPSS, Turkey) and Med Calc 12.3.0 package programs. Results: The sensitivity of NLR in predicting advanced-stage (Stage 3 and 4) squamous-cell carcinoma of the larynx (LSSC), T4 LSSC and lymph node metastasis at different cut-off values were 66.2%, 83.9% and 73.8%, respectively and the specificity was 76.7%, 66.2% and 65.2%, respectively. Staging according to T classification revealed that NLR significantly increases with tumor stage (p<0.001). Statistically significant relation was determined between lymph node metastasis of tumor and neutrophil/lymphocyte ratio (p=0.003). Comparing overall survival (OS) and disease-free survival (DFS) between the cases with NLR <3.02 and the cases with NLR >3.02, it was demonstrated that OS and DFS are significantly lower in the cases with NLR<3.02 (p: 0.001 vs. p<0.05 for OS and p: 0.013 vs. p<0.05 for DFS) Conclusion: NLR increases with the stage of disease in LSSC. NLR is a simple, cheap, repeatable and valuable parameter that can be obtained from routine analyses, gives information about poor prognosis and survival, and is able to predict T4 LSSC, advanced-stage LSSC (stage 3-4) and lymph node metastasis.
Nov 2016 DOI 10.14302/issn.2574-4526.jddd-16-1322
Summary Primary malignant melanoma arising from the parotid gland is extremely rare and only sporadic cases have been described. This entity is characterized by delayed diagnosis, poor prognosis and controversial pathogenesis. We report a case of primary malignant melanoma of the parotid gland in a 54-year-old man. The initial diagnosis, made by fine needle aspiration cytology, was malignant tumor without precision. Radical parotidectomy was performed. Diagnosis of primary melanoma of the parotid gland was confirmed by immunochemical analysis revealing positive staining for S-100, HBA-45 and Melan A. Computed Tomography and whole-body 18F-FDGPET/CT image were made to evaluate metabolic and morphologic characteristics of the primary melanoma, to identify potential systemic metastasis at early stage and to exclude primary melanoma elsewhere in the body. The clinical, pathological, immunohistochemical and the role of combined FDG PET/CT features of this lesion are discussed compared to a literature review.
Nov 2016 DOI 10.14302/issn.2574-4526.jddd-16-1311
Adenosquamous carcinoma of the stomach (ASCS) is extremely rare with less than one hundred cases published in the world literature. It is defined by combined adenocarcima and squamous cells carcinoma of the stomach. ASCS is clinically aggressive and has a poor prognosis, even when discovered at an early stage. This intriguing entity is characterized by non specific symptoms or radiological signs. Integrate 18F-fluorodeoxyglucose positron emission tomography/computed tomography 18F FDG.PET/CT is useful morphologic and functional modalities for evaluating primary tumor, local extend and invasion beyond gastric wall or distant metastatic and eventually for management. Diagnosis of ASCS requires immunohistochemical confirmation. We report a 77-year-old man who was admitted to hospital because of epigastric pain, vomiting and melena since more than a month. Gastroscopy with biopsies had initially suggested gastric squamous cell carcinoma .Thoracic and abdominal computed tomography scan (CT) showed a huge mass in the gastric body, largely necrotic, infiltrating the adjacent structures without metastases. Partial gastrectomy with resection of the proximal 2/3 of the stomach, the spleen, the body and tail of pancreas and the left transverse colon was performed. Immunohistochemical analysis demonstrated ASCS with mixed adenocarcinomatous and squamous cells carcinoma with invasion of gastric lymph nodes. Unfortunately, two months after surgery, a CT of the abdomen revealed diffuse metastasis and the patient died three months later. In light of this case, we discuss the pathogenesis, staging and monitoring of this rare entity by combined 18F-FDG PET/CT with review of the literature.
Oct 2016 DOI 10.14302/issn.2576-182X.jbsc-16-1261
Background: Spontaneous primary intracranial hemorrhage or known as intracerebral hypertensive hemorrhage consist of 15 to 20% of all stroke, is one of the major health problems among healthy and productive workforce in any countries. Methods: A retrospective study was conducted in a dedicated Neurosurgical Centre at the Hospital Sungai Buloh, Malaysia. The study was conducted for admission within a year period, in the year 2013 with 6 months follow-up. A total of 35 patients were studied. Results: The mean age was 52.8 years old (31-77 years old). A total of 29 patients (82.9%) were presented with basal ganglia hemorrhage, 4 with cerebral lobar hemorrhage (11.4%) and 2 with cerebellar hemorrhage (5.7%). The surgical mortality rate was 40%. For the 6 months follow-up, 31.4% patients improved to Glasgow Outcome score (GOS) of 4, while 22.9% and 5.7% patients improved to only GOS of 3 and 2 respectively. There were several factors identified in the study to be important predictors of survival. There were statistically significance of higher mortality rate among patients with pre-operative GCS of 5 and below (p=0.015), pre-operative CT scan brain showing acute hydrocephalus (p=0.046) and residual post-operative hematoma above 5% of pre-operative clots volume (p=0.006). Other factors such as age, sex, size of pre-operative hematomas, presence of intraventricular hemorrhage, underlying medical illness were not statistically significant in predicting the surgical outcome of those patients. Conclusions: Outcome predictors such as pre-operative GCS and CT scan brain findings helps treating neurosurgeons to determine the prognosis of patients presented with spontaneous intracranial hemorrhage.
Mar 2016 DOI 10.14302/issn.2474-3585.jpmc-15-757
Objective: MicroRNAs are involved in the onset, progression and dissemination of esophageal cancer, and they may be useful as prognostic biomarkers. This study aims to evaluate the relation of miR-21 expression and the prognosis of esophageal cancer patients. Methods: In this study, a meta-analysis is performed by searching PubMed, Science Direct databases, and Cochrane Library. Data are extracted from studies evaluating survival of esophageal cancer patients with either high or low miR-21 expression. Pooled hazard ratios (HRs) and 95% confidence intervals (CI) are calculated. Results: A total of 579 cases of esophageal cancer from five studies are involved for this global meta-analysis. The HR of survival of patients with high miR-21 expression is 1.47 (95% CI: 1.12–1.91; p<0.01) as compared with those with low expression. Conclusions: miR-21 may be a predictor for survival of esophageal cancer patients.
Feb 2016 DOI 10.14302/issn.2379-8572.joa-14-531
Central retinal artery occlusion (CRAO) is a retinal ischemic disorder associated with sudden loss of vision and has a poor prognosis. We report a case of CRAO that occurred during frontal sinus surgery involving craniotomy in a patient with a frontal sinus cyst. The prognosis for treatment after the acute phase is generally unfavorable; however, aggressive treatment is recommended for patients with visual acuity of “hand motion” or better within 1 day after onset. This case highlights the need for informed consent prior to nasal or paranasal sinus surgery, including mention of the possibility of CRAO as a complication.
Dec 2015 DOI 10.14302/issn.2576-182X.jbsc-14-582
Pituitary abscess is extremely rare and often misdiagnosed as pituitary tumor pre-operatively. We document a case of a 64-year-old lady presented to the outpatient department with complaints of headache and blurring vision of right eye for one month. Based on preliminary investigations, a clinical diagnosis of pituitary adenoma was made and the pituitary gland was surgically excised. Histopathological examination showed Actinomyces infection. This case has been documented due to the extremely rare involvement of the pituitary gland by actinomyces infection. Pituitary abscess is a rare pathology, but it must be considered during evaluating sellar masses, since its prognosis depends on surgical drainage and on the use of specific antibiotics. We report, to our knowledge, the fourth case of Actinomyces israelii infection of the pituitary region.
Dec 2015 DOI 10.14302/issn.2574-4496.jtc-15-779
It is extremely rare that sarcomas metastasize to the thyroid. We report a case of a 49 year old male with malignant peripheral nerve sheath tumor (MPNST) metastatic to the thyroid that was diagnosed by ultrasound guided fine needle aspiration (FNA). The FNA cytology showed numerous loosely cohesive pleomorphic small spindle cells, some of which were arranged in short fascicles or haphazard pattern. The nuclei were oval or spindle in shape, with hyperchromatic granular chromatin and inconspicuous nucleoli, and smooth nuclear membrane contours. The cytoplasm was scant to moderate in amount, and delicate. Some cells had long thin cytoplasmic projections. Based on the cytomorphology, a diagnosis of “consistent with metastatic MPNST from small intestine” was rendered and follow-up thyroidectomy confirmed the cytologic diagnosis. Therefore, FNA biopsy is a useful, easy to perform, cost effective, safe procedure that can diagnose secondary tumors of the thyroid, and help avoid unnecessary thyroidectomy in patients with a poor prognosis.
Jun 2015 DOI 10.14302/issn.2470-0436.jos-14-528
A previously healthy 25 year old Chinese male presented with left eye blurring of vision and was diagnosed to have left eye branch retinal vein occlusion. Initial blood investigations and thrombophilia screen were negative. The patient subsequently improved with observation and conservative management, with no further events over a 2 year follow up period. The blood investigations were repeated 2 years later as part of a health check-up and he was then tested to be heterozygous for the factor V leiden mutation. This was confirmed by sequencing of his genome that identified the mutation. The laboratory was contacted to provide details regarding the testing methods and was noted to have performed the two tests via different methods. While false negative rates in genetic testing are low, we believe that there is greater need to standardize testing methods as ascertaining genetic conditions play a great role in clinical diagnosis, treatment and prognosis. Clinicians should be aware of the limitations of these tests. When clinical suspicion is high, there may be a role for repeat tests with different methods or in different laboratories.
May 2015 DOI 10.14302/issn.2471-7061.jcrc-14-574
Colon cancer has a five-year survival of 64.7%, and about 50,000 people are expected to die from colon cancer this year. Patients with metastatic colorectal cancer have a significantly worse prognosis, a 12.9% five-year survival. This emphasizes the need for strategies to inhibit the growth and metastases of colorectal cancer. Prostate apoptosis response protein 4 (Par-4) is a pro-apoptotic protein that has been shown to mediate apoptosis in response to stimuli, such as chemotherapeutics and radiation. Recombinant Par-4 protein has been shown to reduce the occurrence of Lewis lung carcinoma metastases in-vivo; however, the mechanism by which Par-4 can inhibit metastasis has not been elucidated. In this study, human colon cancer cell lines - SW480 and SW620 - were transfected with Par-4 plasmid or anti-Par-4 shRNA, and the effect on metastasis was examined. Par-4 overexpression inhibited cell migration and invasion, while Par-4 knockdown promoted it. Moreover, the morphology of SW620 cells was altered when Par-4 levels were increased. The change was characteristic of a mesenchymal-to-epithelial transition (MET) in these cells. MET can be induced by upregulation of E-cadherin expression, and RT-PCR and Western blot analyses showed that E-cadherin mRNA and protein levels, respectively, were increased in the Par-4 overexpressing cells concomitant with a decrease in vimentin. The results of this study demonstrate the potential of Par-4 in colon cancer therapy, not only in primary tumors but also in metastatic cells.
May 2015 DOI 10.14302/issn.2574-4496.jtc-13-347
Primary thyroid leiomyosarcoma, is extremely rare, with only 19 cases reported in the literature to date. Onset of the tumor, which usually develops in only one lobe of the thyroid, is sudden and the tumor spreads rapidly to surrounding tissues. Preoperative differential diagnosis is extremely difficult. The long-term prognosis for the patient is extremely poor and unrelated to treatment. Indeed, thyroidectomy and neck dissection followed by adjuvant chemotherapy and/or radiation therapy have not been shown to affect rate of recurrence and long-term survival. The authors describe the case of a patient with leiomyosarcoma of the thyroid gland and review the relevant literature, considering the differential diagnoses and alternative treatment strategies.
Feb 2014 DOI 10.14302/issn.2372-6601.jhor-13-358
Acute lymphoblastic leukemia (ALL) is a rapid form of leukemia characterized by clonal proliferation and accumulation of immature hematopoietic stem cells of the lymphoid lineage in the bone marrow as well as peripheral blood. Chromosomal aberrations identified in childhood ALL have an important role in disease diagnosis, prognosis and management. We present the results of hematologic, immunophenotypic, cytogenetic, FISH and Multiplex RT-PCR analysis of a 6-year-old boy diagnosed with B-cell precursor Acute Lymphoblastic Leukemia (BCP- ALL). In this study, we identified a novel chromosomal translocation t(10;15)(q22;q22) by cytogenetic and FISH analysis. To the best of our knowledge, this is the first report of this novel chromosomal translocation in this subset of ALL and has not yet been reported elsewhere. This rearrangement may include certain cancer associated tumor suppressor gene(s) or genes involved in apoptosis and transcription regulation, which on loss of normal function may lead to leukaemogenesis.
Jan 2014 DOI 10.14302/issn.2328-0182.japst-12-183
Gold nanorods (GNRs) are plasmonic nanostructures by virtue of their size-dependent optical properties, offer a bionanotechnology platform in areas of bioimaging, drug delivery etc for disease diagnosis, prognosis, and therapy. GNRs are more sensitive to changes in local environments, and offer strong scattering and absorption efficiencies thus providing opportunities to integrate multiple imaging modes and therapeutic strategies. The hydrodynamic size of these GNR under physiological condition is <100 nm, making them ideal as intracellular delivery agents. RNA interference using small inhibitory RNA (siRNA) has become a powerful tool to downregulate mRNA levels by cellular nucleases that become activated when a sequence homology between the siRNA and a respective mRNA molecule is detected. siRNA is used to silence genes involved in the pathogenesis of various diseases and holds a promising option for the development of novel therapeutic strategies in neurological dysregulation such as that observed in drug addiction. However, a major challenge in gene therapy continues to be effective delivery of siRNA and its sustained release at targeted sites. Previously, we have shown the GNR coated with poly (diallyldimethyl ammoniumchloride) (GNR-PDDAC) electrostatically complexed to the dopamine- and cAMP-regulated neuronal phosphoprotein (DARPP-32) siRNA forming a GNR-nanoplex that was able to effectively silence the DARPP-32 gene expression in dopaminergic neuronal (DAN) cell cultures in- vitro. The current report, explores if modification of the surface coating properties of the GNRs with different surface coatings namely, amino terminated polyethylene glycol (GNR-PEG), polyethyleneimine (GNR-PEI) and Chitosan (GNR-CIT) alters their stability, cytotoxicity and DARPP-32 gene silencing efficiency in-vitro dopaminergic neuronal (DAN) cell cultures with the goal of determining the most suitable surface coating for the GNR that would provide a GNR-nanoplex with the most stability, least cytotoxicity and most efficacious gene silencing.