Polycythemia vera (PV) is a common cause of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). The postpartum period is a precipitating cofactor. An additional heparin-induced thrombocytopenia/thrombosis (HIT/T) leads to a life-threatening condition in which transjugular intrahepatic portosystemic shunting (TIPS) seems to be the only life-saving procedure. We describe the case of a subacute BCS and PVT in the late postpartum period. The diagnosis was established using CT scan, MRI, and Doppler ultrasonography of abdominal vessels and the laboratory findings were compatible with PV. After a successful creation of TIPS, a HIT/T worsened the hemorrhagic and thrombotic picture. TIPS procedure was successfully repeated and heparin was replaced with Fondaparinux and then vitamin K antagonist. The treatment with interferon alpha-2A, started after the normalization of liver functions, resulted in a complete remission within 6 months. The JAK2 V617F mutation clone remained undetectable after 2 years' follow-up.
We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G>A (p.Arg168His) missense mutation in <i>IRX5</i> in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.
The teaching role of radiology residents has seldom been evaluated, and little is known about how teaching skills of radiology residents evolve throughout their training in the absence of formal teaching guidance. Our objective is to identify residents' characteristics correlating with better teaching and compare teaching characteristics of junior and senior residents. Method: All seven medical schools in Lebanon were involved in this multi-centric study. A self-assessment questionnaire was sent to sixty-nine radiology residents and filled anonymously. Fifty-seven (83 %) responses were received and represent the study population. Data analysis was based on factors correlating with overall teaching effectiveness. A comparison of senior and junior residents' responses was also performed. Results: Overall teaching effectiveness correlated with better knowledge, technical skills, clinical judgment, communication skills, identification and correction of learning problems, and importantly providing and receiving feedback. Senior residents rated themselves significantly better than juniors in "knowledge related to radiology" and in "technical skills" but not in "overall teaching effectiveness". Seniors did not agree on the statement "medical students make my clinical responsibilities easier". Although not reaching statistical significance, seniors showed a trend towards improving teaching skills. Conclusions: Overall teaching effectiveness is correlated with the adoption of proper skills and techniques. Despite the lack of formal teaching guidance, senior radiology residents are improving their techniques as teachers but still face difficulties in several domains.
<b><i>Introduction:</i></b> Overgrowth syndromes are a heterogeneous group of genetic disorders characterized by excessive growth, often accompanied by additional clinical features, such as facial dysmorphism, hormonal imbalances, cognitive impairment, and increased risk for neoplasia. Moreno-Nishimura-Schmidt (M-N-S) overgrowth syndrome is a very rare overgrowth syndrome characterized by severe pre- and postnatal overgrowth, dysmorphic facial features, kyphoscoliosis, large hands and feet, inguinal hernia, and distinctive skeletal features. The clinical and radiological features of the disorder have been well delineated, yet its molecular pathogenesis remains unclear. <b><i>Case Presentation:</i></b> We report on a Lebanese boy with M-N-S syndrome, whose clinical manifestations were compared with those of previously reported 5 affected individuals. Whole-exome sequencing combined with comparative genome hybridization analysis failed to delineate the molecular basis of the phenotype. However, epigenetic studies revealed a different methylation status of several CpG sites between him and healthy controls, with methyltransferase activity showing the most significant enrichment. <b><i>Conclusion:</i></b> An additional case of M-N-S syndrome recapitulated the clinical and radiological manifestations described in the previous reports. The data in the epigenetic studies implicated that abnormal methylations might play an essential role in development of the disease phenotype. However, additional studies in a clinically homogeneous cohort of patients are crucial to confirm this hypothesis.
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