Surfactant-replacement therapy is a life-saving treatment for preterm infants with respiratory distress syndrome, a disorder characterized by surfactant deficiency. Repletion with exogenous surfactant decreases mortality and thoracic air leaks and is a standard practice in the developed world. In addition to respiratory distress syndrome, other neonatal respiratory disorders are characterized b...

Wernicke-Korsakoff syndrome is a manifestation of thiamine (vitamin B1) deficiency, usually secondary to alcohol abuse, although there other non-alcohol related causes, such as bariatric surgery, and extreme dietary restriction. The syndrome is a combined manifestation of the short-lived but acute Wernicke’s encephalopathy (WE), followed by chronic Korsakoff syndrome. It is generally accepted t...

Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions compl...

Copper deficiency has been associated with a clinical syndrome, myeloneuropathy. Radiographic changes resembling B(12) deficiency in the cervical spinal cord have been described. We present a case of copper deficiency myeloneuropathy, with cervical MR imaging findings resembling B(12) deficiency, which partially reversed following copper supplementation. This is, to our knowledge, the first des...

Vitamin B12 or cobalamin deficiency occurs frequently (> 20%) among elderly people, but it is often unrecognized because the clinical manifestations are subtle; they are also potentially serious, particularly from a neuropsychiatric and hematological perspective. Causes of the deficiency include, most frequently, food-cobalamin malabsorption syndrome (> 60% of all cases), pernicious anemia (15%...

Chronic heart failure (CHF) is a major public health problem in huge population worldwide. The detailed understanding of CHF mechanism is still limited. Zheng (syndrome) is the criterion of diagnosis and therapeutic in Traditional Chinese Medicine (TCM). Syndrome prediction may be a better approach for understanding of CHF mechanism basis and its treatment. The authors studied disturbed metabol...

INTRODUCTION Organic acids were examined from normal and Down syndrome pregnancies to identify possible differences between the amniotic fluid from fetuses with Down Syndrome compared with that of normal fetuses. MATERIALS AND METHODS Amniotic fluids were obtained from prior amniocenteses. Forty-one normal and 22 Down syndrome specimens were assayed using gas chromatography/mass spectrometry....

OBJECTIVE To examine the incidence of restless legs syndrome (RLS) among children with iron deficiency, or iron deficiency anemia, or both, and the relationship between RLS prevalence and serum ferritin levels. METHODS This prospective, cross-sectional, case controlled study was carried out between January and June 2013, and included 98 iron deficiency and/or iron deficiency anemia, and 102 h...

Background: Metabolic syndrome (MS) is an important risk factor that is associated with vitamin D deficiency, according to recent studies. This study aimed to evaluate the relationship between serum 25-hydroxyvitamin D level and risk of metabolic syndrome in children in Birjand. Materials and Methods: A case-control study on 6 to 18 years old metabolic syndrome patients, this investigation was ...