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271.
272.
Abdul Malik Hayat Khalid Rehman Yousaf Saman Chaudhary Sohaib Amjad 《Radiology Case Reports》2022,17(5):1435
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly of female urogenital tract involving combined mullerian duct anomalies and mesonephric duct malformation characterized by uterus didelphys, obstructed hemi-vagina and ipsilateral renal agenesis which is also known as OHVIRA syndrome. It can be classified based on a completely or incompletely obstructed hemivagina. It presents soon after menarche or shows delayed presentation depending on the type. The most common presentation is lower abdominal pain, dysmenorrhea, and abdominal mass in the lower abdomen secondary to hematometra or hematocolpos. We present a 15-year-old unmarried patient with an unusual case of OHVIRA syndrome suffering from dysmenorrhea and painful mass in suprapubic region. We described the role of imaging modalities in diagnosis of the Herlyn-Werner Wunderlich syndrome with a review of literature. On USG and MRI, she had right renal agenesis with compensatory hypertrophy of the left kidney, didelphic uterus with an obstructed hemi-vagina on right side which led to marked distention of ipsilateral cervix and proximal vagina in the form of hematometrocolpos. OHVIRA syndrome can present early or late, depending on the type. In patients with uterine and vaginal abnormalities, a work-up for associated renal anomalies should be performed. The choice imaging modalities for the diagnosis of OHVIRA syndrome are ultrasound and MRI. Knowing the imaging findings of this rare condition is crucial for early diagnosis in order to prevent complications which may lead to endometriosis and infertility. 相似文献
273.
Bilal Bashir Zohaib Iqbal Safwaan Adam Maryam Ferdousi William Chick Heleen A. Hussein Akheel A. Syed Carel W. Le Roux Ricardo V. Cohen Rayaz A. Malik Handrean Soran 《Obesity reviews》2023,24(10):e13602
Bariatric surgery in people with obesity can lead to long-term remission of type 2 diabetes mellitus (T2DM) and a reduction in the incidence of macrovascular complications. The impact of bariatric surgery on microvascular complications is less clear. In this narrative review, we sought to evaluate the effect of bariatric surgery on microvascular complications in patients with and without diabetes. The risk of developing microvascular complications is increased in people with obesity, and this is amplified in those with T2DM. The impact of metabolic surgery on microvascular complications is limited to a subgroup analysis of studies or statistical modeling to predict the glycemia-independent effect of bariatric surgery. While bariatric surgery halts the progression of retinopathy in those with minimal retinopathy, it may worsen in those with advanced retinopathy. Bariatric surgery improves proteinuria and major renal outcomes, regardless of the severity of renal impairment. Bariatric surgery in patients with obesity with or without diabetes is associated with an improvement in neuropathic symptoms and regeneration of small nerve fibers. In conclusion, bariatric surgery is associated with an improvement in microvascular complications. Further studies are needed to elucidate the underlying mechanisms for the favorable effect of bariatric surgery on microvascular outcomes. 相似文献
274.
Hammad Yousaf Shagufta Rehmat Muhammad Jameel Rabab Ibrahim Sohana Nadeem Hashmi Ehtisham Ul Haq Makhdoom Justyna Iwaszkiewicz Saadia Maryam Saadi Muhammad Tariq Shahid M. Baig Mathias Toft Ambrin Fatima Zafar Iqbal 《Clinical genetics》2023,104(3):324-333
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, OMIM # 619150 ) is an ultra-rare childhood-onset autosomal recessive movement disorder manifesting paroxysmal dyskinesia, global developmental delay, impaired cognition, progressive psychomotor deterioration and/or drug-refractory seizures. We investigated three consanguineous Pakistani families with six affected individuals presenting overlapping phenotypes partially consistent with the reported characteristics of IDDPADS. Whole exome sequencing identified a novel missense variant in Phosphodiesterase 2A (PDE2A): NM_002599.4: c.1514T > C p.(Phe505Ser) that segregated with the disease status of individuals in these families. Retrospectively, we performed haplotype analysis that revealed a 3.16 Mb shared haplotype at 11q13.4 among three families suggesting a founder effect in this region. Moreover, we also observed abnormal mitochondrial morphology in patient fibroblasts compared to controls. Belonging to diverse age groups (13 years-60 years), patients presented paroxysmal dyskinesia, developmental delay, cognitive abnormalities, speech impairment, and drug-refractory seizures with variable onset of disease (as early as 3 months of age to 7 years). Together with the previous reports, we observed that intellectual disability, progressive psychomotor deterioration, and drug-refractory seizures are consistent outcomes of the disease. However, permanent choreodystonia showed variability. We also noticed that the later onset of paroxysmal dyskinesia manifests severe attacks in terms of duration. Being the first report from Pakistan, we add to the clinical and mutation spectrum of PDE2A-related recessive disease raising the total number of patients from six to 12 and variants from five to six. Together, with our findings, the role of PDE2A is strengthened in critical physio-neurological processes. 相似文献
275.
Haseeb Chaudhary Zohaib Yousaf Usama Nasir Tayyab Waheed Khezar Syed 《Clinical Case Reports》2021,9(12)
ST elevations on electrocardiogram (ECG) have a broad differential diagnosis that can vary from benign to more ominous pathologies. These include early repolarization, coronary vasospasm, acute pericarditis, ST‐elevation myocardial infarction, ventricular aneurysms, and dissecting aneurysm of the aorta reaching the pericardium. ST‐segment changes may also provide a clue to the presence of spontaneous pneumomediastinum (SPM). These ECG changes are seldom reported in literature. We describe two SPM cases with concomitant pneumopericardium that closely mimicked acute pericarditis with a deceptive clinical spectrum. 相似文献
276.