PURPOSE Survival in Rett syndrome remains unclear. Although early estimates were grim, more recent data suggest that survival into adulthood is typical. We aimed to define survival in Rett syndrome more clearly and identify risk factors for early death. METHODS Participants with clinical Rett Syndrome or methyl-CpG-binding protein 2 mutations without clinical RTT were recruited through the Re...

Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...

Haemolytic Uraemic Syndrome (HUS) is a rare and severe form of thrombotic microangiopathy associated with poor renal prognosis. Approximately 10-20% the diagnoses atypical Uremic (aHUS) are related to pregnancy. Pregnancy acts as trigger for aHUS, especially in setting preeclampsia haemorrhage. It should be differentiated from other similar conditions such preeclampsia, HELLP syndrome, postpartum

INTRODUCTION Knowledge of the characteristics of patients with atypical presentation of acute coronary syndromes may contribute to increased sensitivity in diagnosis in a given population. The purpose of this study is to quantify the prevalence of atypical presentation, to identify its determinants, and to describe the presenting symptoms in cases of acute coronary syndrome at the emergency dep...

BACKGROUND Hallervorden-Spatz syndrome is an autosomal recessive disorder characterized by dystonia, parkinsonism, and iron accumulation in the brain. Many patients with this disease have mutations in the gene encoding pantothenate kinase 2 (PANK2); these patients are said to have pantothenate kinase-associated neurodegeneration. In this study, we compared the clinical and radiographic features...

Central nervous system symptoms in patients with primary Sjogren`s syndrome are rare. They can present as extraglandular manifestations and require a differential diagnosis from multiple sclerosis. Due to a variety of presentations, Sjogren`s syndrome with neurologic involvement may be difficult to diagnose. Here, we report a case of a 75-year-old woman who was first diagnosed with multiple scl...

We address two challenges with the development of next-generation nanotransistors, (i) the capability of modeling realistically extended structures on an atomistic basis and (ii) predictive simulations that are faster and cheaper than experiments. We have developed a multi-dimensional, quantum transport solver, OMEN, towards these goals. To approach the peta-scale, the calculation of the open b...

Background: Drug-induced hypersensitivity syndrome (DIHS) can be associated with cytomegalovirus (CMV) infection, besides induced by drugs. We report a case of DIHS prolonged atypical clinical features and vasculitis precipitated drug allergy, CMV, other viral infections.

introduction cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). it mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. case report we present here a one year old child who did not presented with typical features but presented with recurre...