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Mar 2023 DOI 10.14302/issn.2641-5518.jcci-23-4506
Partanen AnuCorresponding author
Limited data exist on the mechanisms promoting clonal expression of BCR-ABL1 cells in various myeloproliferative disorders. We present a patient whose Janus Kinase (JAK) 2 V617F-negative idiopathic myelofibrosis (IMF) transformed to Philadelphia-positive chronic myeloid leukemia (CML). A 55-year-old man had anemia and splenomegaly. Trephine biopsy showed excess fibrosis without a JAK2 V617F mutation. Diagnosis of high-risk IMF with t(3;12) and del(16q) was made. Five years later a repeated trephine biopsy showed extensive fibrosis and t(9;22) with der(22)t(9;22). BCR-ABL1 fusion gene with typical p210 fusion transcript was found resulting in the diagnosis of CML. A modest treatment response was achieved with tyrosine kinase inhibitor (TKI) therapies, but the disease eventually progressed to a myeloid blast phase. With AML-based chemotherapy plus azacytidine and a second generation TKI the patient survived for years but succumbed 11 years after the initial diagnosis. Clonal evolution may cause atypical disease characteristics or a poor response to targeted therapy in myeloproliferative disorders.
Jan 2020 DOI 10.14302/issn.2690-4837.ijip-19-3145
Bajaj AnubhaCorresponding author
MD. (Pathology) Panjab University, Department of Histopathology, A.B. Diagnostics, A-1, Ring Road, Rajouri Garden, New Delhi, 110027, India.
Idiopathic granulomatous mastitis was initially scripted in 1972 by Kessler and Wolloch and is cogitated as an infrequent, benign, chronic inflammatory disorder. It commonly implicates females of reproductive age group, especially women who have breast fed in the preceding five to six years. Idiopathic granulomatous mastitis is commonly discerned in Asia and Mediterranean region although true incidence is undetermined. Diverse ethnicities delineate a diverse disease prevalence. Elimination of adjunctive causes of granulomatous inflammation makes idiopathic granulomatous mastitis a diagnosis of exclusion. As per the natural history, idiopathic granulomatous mastitis is designated as a self limiting disorder 1.
Aug 2017
Oluyinka AKINTAYO RichardCorresponding author
Department of Medicine, Rheumatology Unit, Department of Medicine, University of Ilorin Teaching Hospital, Ilorin, Nigeria
Objectives: To describe the frequency, clinico-laboratory characteristics and treatment outcomes of patients with juvenile idiopathic arthritis (JIA) in Lagos State University Teaching Hospital (LASUTH), Lagos, Nigeria. Methods: This is a retrospective review of patients with JIA seen over a five-year period at the rheumatology clinic and children ward of LASUTH. We reviewed the folders of 28 patients from our unit records. The demographics, baseline clinical and laboratory characteristics, treatment given and patient outcomes were extracted and analyzed. Results: A total of 28 patients with JIA were managed over the study period. Twenty one (75%) patients among our JIA cases were female and the mean age at presentation was 9.8±3.9 years. The mean duration of symptoms before diagnosis was 21.8±5.7 months. Polyarticular JIA (PJIA) constituted 14 (50%) cases, while oligoarticular and systemic-onset JIA (SoJIA) constituted 9 (39.3%) and 5 (17.9%) of the JIA cases respectively. Anaemia was present in 20 (71.4%) patients, leucocytosis in 16 (57.1%) and thrombocytosis in 11 (39.2%). Twenty five (89.2%) patients had elevated erythrocyte sedimentation rates (ESRs), 21 (75%) had elevated C-reactive protein levels and 23 (82.1%) patients had hyperferritinaemia. Positive antinuclear antibody (ANA) was found in 5 (17.8%) patients. Mortality was documented in 2 (7.1%) patients both of whom were SoJIA cases. Eleven (39.3%) patients were lost to follow up. Conclusion: Unlike the common report of oligoarticular JIA (OJIA) being the most frequent subtype of JIA in various series from North America and Europe, PJIA was the most frequent subtype seen among our patients and this variant accounted for half of all JIA cases seen. There were no cases of psoriatic, enthesitis-related or undifferentiated JIA and most patients had haematological abnormalities and high levels of inflammatory markers at presentation.
Aug 2017
Fernandes Pires CatarinaCorresponding author
Adjunct Professor of Pediatrics, Federal University of Piauí, Brazil
Objectives: To identify the clinical epidemiological characteristics of patients with juvenile idiopathic arthritis (JIA) monitored at the Lucidio Portella Children’s Hospital (HILP) in northeastern Brazil and to ascertain the frequency and forms of presentation, the most affected joints, the most common joint involvement for each form, the frequencies of positive rheumatoid factor (RF+) and positive antinuclear antibodies (ANA+) in the various forms of presentation, and the most common complications. Methods: A study was conducted with 74 medical records of patients with JIA monitored at HILP between January 2010 and January 2013. Descriptive statistics were used for statistical analysis. Results: JIA was predominant in females with a mean age at onset of 5.2 years and a median disease duration of two years. The most frequent initial form of presentation was oligoarticular (63.5) arthritis, and the most affected joint was the knee (86.4%). The knee was most affected by oligoarticular arthritis, the wrist, knee, and ankle were affected by RF+ polyarticular arthritis, and the knee, ankle, and cervical spine were affected by systemic arthritis. RF+ was observed in 8.5% of the oligoarticular arthritis cases. ANA+ were present in 27.7% of the oligoarticular cases, in 22.2% of the systemic arthritis cases, and in 11.1% of the RF+ polyarticular arthritis . The most common complications were deformities (20.3%) and uveitis (14.9%). Conclusion: The findings for JIA patients in a referral hospital in northeastern Brazil were consistent with the literature regarding most of the evaluated criteria.
Dec 2016 DOI 10.14302/issn.2379-8572.joa-16-1366
Senem Deveci HandeCorresponding author
Fatih Sultan Mehmet Education and Research Hospital, Department of Otorhinolaryngology, Istanbul
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 2016 DOI 10.14302/issn.2470-5020.jnrt-16-1240
Kristoper P. de Guzman JanCorresponding author
Department of Neurology, Jose R. Reyes Memorial Medical Center
Background: Impulse Control Disorders (ICDs) are characterized as pathologicalbehavioral patterns of excess impulsivity which may result as part of the non-motor complications of Parkinson’s disease (PD). These significantly affect the patient’s overall quality of life and have impact on their care givers, as well. Currently, the prevalence of ICDs among adult Filipino patients with Parkinson’s disease is unknown and less reported. Objectives: The study is intended to determine the prevalence of ICDs and its severityamong adult Filipino patients with idiopathic Parkinson’s disease seen at Jose R. Reyes Memorial Medical Center. Specifically, this study will identify risk factors and the clinical correlates to these patients. Methods: Adult Filipino patients diagnosed withidiopathic Parkinson’s diseasewhowere seen at the outpatient department from March 2015 – September 2015 are screened for the study. The Modified Hoehn and Yahr staging was utilized to determine the stage of PD. With approval from the author, the Questionnaire for Impulsive-Compulsive Disorders in Parkinson’s Disease-Rating Scale (QUIP-RS) was used for detecting the presence of ICDs and corresponding severity. Results: We were able to examine 66 patients (31 males and 35 females) withidiopathic Parkinson disease. Majority of the patients manifested with Tremor Dominant (50%) subtype, followed by Early Disease Onset (34.8%), and Non-Tremor Dominant (15.2%). Sixteen (16) out of 66 patients (24.2%) have ICD symptoms with the following incidence rates: hobbyism/ punding 56.25%, compulsive eating 50%, hypersexuality 18.75%, compulsive shopping 18.75, Dopamine dysregulation syndrome 18.75%, and gambling 12.5%. Overall average QUIP-RS score is 5.42. There is significant association of PD duration with occurrence of ICD symptoms; the longer the PD duration, the higher risk of having ICD symptoms (x2 20.41; p = 0.026). Patients with higher mean modified Hoehn and Yahr stage (2.66±0.94), t 2.735, df 64, p 0.008, have much higher incidence of ICD symptoms. Conclusion: Filipino patients with idiopathic Parkinson disease who are majority onlevodopa + carbidopa therapy may develop impluse control disorders (ICDs). Other contributory factors in development of ICDs include longer duration of PD and higher mean Modified Hoehn and Yahr stage.
Apr 2016 DOI 10.14302/issn.2470-0436.jos-15-710
Campa ClaudioCorresponding author
Sant’Anna University Hospital, Ferrara, Italy
Idiopathic macular telangiectasia type 2 is a rare retinal condition usually characterized by parafoveal telangiectatic vessels, hyperplastic pigment plaques and seldom a full thickness macular hole or a retinal neovascularisation. Herein we describe an atypical presentation of this disease. Methods Review of the patient’s clinical and angiographic records. Results A 87-year-old white man was diagnosed with idiopathic macular telangectasia type 2. Ophthalmological and angiographic examination disclosed telangiectasia of the parafoveal capillaries together with extensive bilateral granular soft drusen and unilateral retinal angiomatous proliferation (RAP). Initially photodynamic therapy with verteporfin (PDT) and subsequently intravitreal injections of bevacizumab were used to treat RAP lesion. This approach provided visual acuity stabilization up to 24 months. Conclusion This case of ours shows that drusen may be a feature of macular teleangiectasia type 2. It also emphasizes that PDT and anti-VEGF therapy are both safe and effective for treating neovascular complications of this disease.
Nov 2019 DOI 10.14302/issn.2641-5518.jcci-19-3098
Caner EdizCorresponding author
Department of Urology, University of Health Sciences (Istanbul), Sultan Abdulhamid Han Education and Research Hospital, Istanbul, Turkey
Idiopathic retroperitoneal fibrosis also known as Ormonds disease is a rare disorder characterized by the development of fibrotic tissue in the retroperitoneum. The fibrotic tissue may compress ureters, leading to obstructive nephrouropathy and renal failure. A 58-year-old man with fatigue, loss of appetite and unable to urinate was admitted to our clinic. Because of the serum creatinine value of 5.3 mg/dl, urinary ultrasonography was performed and bilateral grade 3 hydronephrosis with moderate level urine in bladder was detected. Hydronephrosis did not regress by transurethral foley catheter and suspicious appearance in the retroperitoneal area was found in abdominal magnetic resonance imaging. Tru-cut biopsy result of the current lesion was finally reported as a connective tissue. Bilateral double j catheter insertion was performed and started to immunosuppression therapy with corticosteroid. Two months later, double j catheters were removed and hydronephrosis was not detected in follow-up. In this case report, we tried to explain that, retroperitoneal fibrosis should be considered in the differential diagnosis of postrenal acute renal failure, even in patients without a classic symptom such as pain. In addition, early surgical intervention should be avoided in such patients.
Jun 2018 DOI 10.14302/issn.2574-4518.jsdr-18-2071
Sedky KarimCorresponding author
Professor of Psychiatry and Medical Student Clerkship Director, CMSRU, Camden, NJ.
Study Objectives: Narcolepsy diagnosis has been associated with a long lag time between the onset of the disorder and the diagnosis itself among patients with the disorder. This article reviews the childhood epidemiology of idiopathic narcolepsy, including its prevalence, subtypes, and disease progression. Methods: A literature review was conducted to include both published and unpublished data on pediatric narcolepsy. All English language articles were included through April, 2015. Results: Time from symptom onset to diagnosis for children is approximately three years. The prevalence of cataplexy appears to be lower in children compared to adults, suggesting a later onset of cataplexy. The presence of cataplexy, however, was unrelated to demographic factors and laboratory findings. Conclusion: There is a substantial lag-time between initial symptom presentation and diagnosis in children with narcolepsy. A less quintessential presentation of narcolepsy might occur in children relative to adults, making diagnosis more challenging. Continued improvements in narcolepsy education for both pediatricians and parents might facilitate earlier identification and diagnosis of the disease, thus leading to improved outcome.
Feb 2018
Ba T TaCorresponding author
Military Hospital 103
Lung transplantation is an established treatment option for patients of end-stage lung diseases. Leading indications include chronic obstructive pulmonary disease, idiopathic pulmonary fibrosis and bronchiectasis, pulmonary arterial hypertension. Living donor lung transplantation (LDLT) was indicated for patients who experience a decline in physical condition and have limited life expectancy and had the better result than from brain dead. The first case of LDLT in Vietnam is 7 year olds boy with difuse congenital bronchiectasis, chronic respiratory failure and cor pulmonale. The right and left lower lobes from father and relative uncle are implanted in a recipient in place of whole right and left lung. The initial result of this recipient showed that lung function recuperated quickly and had no early complications. After 12 months surgery, the recipient had normal physical exercise capacity, subclinical tests in normal limits and no respiratory symptoms, opportunistic infection.
Aug 2016 DOI 10.14302/issn.2470-5020.jnrt-15-750
Adam Thrasher TimothyCorresponding author
Center for Neuromotor and Biomechanics Research, University of Houston, Houston, TX, USA
Background To quantify the underlying rhythmic patterns observed in surface electromyography (SEMG) in patients with Parkinson’s Disease (PD), to compare rhythmicity of PD gait with normal gait, and to compare overground walking to treadmill gait. Methods Eight individuals with idiopathic PD, and ten individuals with no history of neurological disorders participated. SEMG was recorded from the vastus lateralis, tibialis anterior, lateral gastrocnemius and biceps femoris muscles bilaterally. Each participant performed two trials of overground walking and two trials of treadmill walking at a self-selected comfortable walking speed. SEMG was analyzed using a non-linear statistical model that identified underlying recurrent locomotor patterns, which estimated the relative contribution of central pattern generators to the observed muscle activation signals. An index of rhythmicity was determined from the statistic, R2. Results The rhythmicity of PD gait was significantly higher than that of normal gait (p = .0458). There was also a significant difference between the rhythmicity of overground walking and treadmill walking (p = .0097). Conclusions Individuals with PD appear to walk with muscle activation patterns that are more rhythmic than normal. This suggests that there is more stride-to-stride consistency, and there are fewer postural adjustments and responses to perturbations. We also found that treadmill gait was more rhythmic than overground walking. These findings, although preliminary, challenge the paradigm and current approach to gait retraining of patients with PD.
Nov 2013 DOI 10.14302/issn.2329-9487.jhc-12-155
Matteo Ciccone MarcoCorresponding author
Cardiovascular Diseases Section, Department of Emergency and Organ Transplantation (DETO), University of Bari, Bari, Italy
We report the case of a 22 year-old-male patient affected by Sotos syndrome was preoperatively and urgently evaluated for tracheal stent implantation due to respiratory insufficiency caused by idiopathic tracheal stenosis. Rest electrocardiogram detected a ventricular pre excitation; a transthoracic echocardiography showed a classic pattern fulfilling criteria for isolated left ventricular non compaction. At the best of our knowledge this is the first report of a patient suffering from Sotos syndrome and simultaneously affected by isolated left ventricular non compaction and ventricular pre excitation.