Listeriosis is an infection produced by Listeria monocytogenes. It is infrequent and affects people at extreme ages, pregnant women, immunocompromised people and, occasionally, healthy people. Its incidence has increased in recent years and shows a certain tendency to seasonality, increasing in summer. It can appear sporadically or as outbreaks. In pregnant women the infection is most frequentl...

Haemophagocyticy lymyphohistiocytosis in the new-born is uncommon. Incidence reported between 1 50,000 to 1,50,000 admissions. Usually it primary or familial HLH first year of life. Secondary causes are due viral, bacterial and fungal infections. A dysmorphic small for gestational age male neonate presented with sepsis neonatal cholestasis. He also had associated HLH. Exom sequencing showed a 2...

alpha(1) Antitrypsin deficiency is a significant factor in the pathogenesis of neonatal cholestasis and progressive juvenile cirrhosis. The diagnosis may be suggested by the liver biopsy appearances and confirmed by immunochemical analysis of the serum. Genetic counselling of affected families is of importance, as medical treatment is ineffective at the present time.

Background: The spectrum of hepatobiliary disorders in children is different from those of adults and include a variety of acute and chronic disorders and these variations are attributable to different factors and they vary with geographical area.Therefore, there is need of such study to find out the spectrum of hepatobiliary diseases in different areas. Aim:To find out the existing pattern of ...

Congenital nephrotic syndrome (CNS) can be caused by neonatal infections and renal diseases that usually occur in early infancy. The most common CNS is the Finnish type, which is an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. In this study, we presented a preterm neonate confirmed as the first case of CNS in Iran by genetic study, who was ...

Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...