Two novel mutations identified in familial cases with Donohue syndrome.

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype-phenotype issues playing a role in the pathophysiology of DS. A female infant born to first-degree cousins Muslim Arab parents and two brothers born to first-degree cousins Druze parents presented classical features of DS with hypertrophic cardiomyopathy and died in infancy.

Cellular and clinical report of new Griscelli syndrome type III cases.

The RAB27A/Melanophilin/Myosin-5a tripartite protein complex is required for capturing mature melanosomes in the peripheral actin network of melanocytes for subsequent transfer to keratinocytes. Mutations in any one member of this tripartite complex cause three forms of Griscelli syndrome (GS), each with distinct clinical features but with a similar cellular phenotype. To date, only one case of GS type III (GSIII), caused by mutations in the Melanophilin (MLPH) gene, has been reported.

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.

Three siblings with recalcitrant leg ulceration, splenomegaly, photosensitive rash, and autoantibodies were suspected of having prolidase deficiency. Urine was checked for iminodipeptiduria, fibroblasts were cultured and analyzed for prolidase activity, and DNA was extracted for identifying the causative mutation. Glycyl proline was found as the dominant dipeptide in the urine.

Atrial natriuretic Peptide in young and elderly children with mild gastroenteritis.

Objective: Atrial Natriuretic Peptide (ANP) has natriuretic and diuretic effects, synthesized and stored in the atrial cells, released in response to stretch of the atrial muscle during increase venous return. Acute gastroenteritis (AGE) causes dehydration. We intend to determine whether the decrease in venous return due to dehydration would lead to a decrease in ANP levels.

Acute otitis media in the first two months of life: characteristics and diagnostic difficulties.

Objective: To assess the clinical and laboratory features of acute otitis media (AOM) in infants younger than 2 months, to look for factors predicting bacterial otitis, and to evaluate the accuracy of AOM diagnosis among paediatricians.

Methods: The study population comprised a cohort of 277 hospitalised infants up to 61 days old that were treated for the first episode of AOM in a paediatric department. We reviewed their medical records and analysed the demographic, clinical and laboratory data, and the diagnosis made by both paediatricians and otolaryngologists.

Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.

Background: POU1F1, a pituitary-specific transcription factor of the class 1 POU family, is crucial for the development and differentiation of the anterior pituitary gland. Mutations in the POU1F1 gene have been shown to be responsible for a syndrome of combined pituitary hormone deficiency (CPHD), including prolactin, growth hormone and thyroid-stimulating hormone deficiencies.

Methods: Five patients with CPHD from three families were evaluated.

Atrial natriuretic peptide in children with pneumonia.

Atrial natriuretic peptide (ANP) has known natriuretic, diuretic, and vasodilatatory effects. It is synthesized and stored in the atrial cells. Stretching of the atrial muscle fibers during an increase in venous return sets a response of ANP release into the blood stream.

Sludge ball, pseudolithiasis, cholelithiasis and choledocholithiasis from intrauterine life to 2 years: a 13-year follow-up.

Objective: Evaluation and follow-up of infants with cholelithiasis and pseudolithiasis in a pediatric ward.

Patients & Methods: Prospective study from April 1990 to October 2003 identified hospitalized infants younger than 2 years with ultrasonographic findings of cholelithiasis, choledocholithiasis or pseudolithiasis. Associated abnormalities or contributory factors were recorded and patients were followed for from 6 months to 13 years (mean, 4 years).

Rasmussen encephalitis with active inflammation and delayed seizures onset.

Severe focal epilepsy is regarded as a clinical hallmark of Rasmussen encephalitis (RE). The authors report two children with progressive hemiparesis, contralateral hemispheric atrophy, and pathologic features characteristic for RE. At histologic diagnosis and over several months, neither patient experienced seizures.

Intestinal protein loss and hypoalbuminemia in children with pneumonia.

Background: Intestinal protein loss has been reported mainly in diseases affecting the gastrointestinal tract. Intestinal protein loss during pneumonia with effusion has not been reported to date. The authors attempted to assess the associations between pneumonia with effusion and intestinal protein loss and hypoalbuminemia in children.

Early peripheral nervous system manifestations of infantile Krabbe disease.

Early infantile Krabbe disease is relatively frequent in the Muslim-Arab population in Israel. It can be easily diagnosed when it presents with the classic clinical picture characterized by central nervous system manifestations of spasticity, irritability, motor regression and seizures associated with a positive family history. We studied eight children diagnosed with Krabbe disease.

Involvement of human heparanase in the pathogenesis of diabetic nephropathy.

Background: Decreased heparan sulfate proteoglycan content of the glomerular basement membrane has been described in proteinuric patients with diabetic nephropathy. Heparanase is an endo-beta-D-glucuronidase that cleaves negatively charged heparan sulfate side chains in the basement membrane and extracellular matrix.

Objectives: To investigate whether urine from type I diabetic patients differs in heparanase activity from control subjects and whether resident glomerular cells could be the source of urinary heparanase.

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both. Mutations in one of two different genes on chromosome 15q can cause the different subtypes of GS. Most patients with GS display the hemophagocytic syndrome and have mutations in RAB27A, which codes for a small GTPase.

Short-term course and outcome of treatments of pleural empyema in pediatric patients: repeated ultrasound-guided needle thoracocentesis vs chest tube drainage.

Background: Several reports have suggested that early chest tube drainage (CTD) may not be necessary in the treatment of severe pleural empyema (PE) in pediatric patients if appropriate antibiotic therapy and supportive care are provided.

Objectives: A prospective open study to compare the short-term course of two treatment protocols of severe PE in pediatric patients.

Study Design: One group of 32 patients was treated with early insertion of a chest tube for CTD, and a second group of 35 patients was treated by a repeated ultrasound-guided needle thoracocentesis (RUSGT).

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I.

Thirteen Israeli patients with type I tyrosinemia were studied. To the best of our knowledge, this group represents all of the patients that were diagnosed in Israel during the years 1987-1997. Their age of onset was variable but all the patients suffered from liver disease at presentation.

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the molecular basis of a novel type of the disease in three unrelated patients diagnosed with CDG-I.

Corticosteroid therapy reversed progressive chronic granulomatous lung disease following deterioration on interferon-gamma treatment.

We describe a patient who suffered from chronic progressive granulomatous lung disease. He had no clinical or microbiological evidence of infection. After failure of treatment with interferon-gamma and trimethoprim-sulfamethoxazole, he responded dramatically to corticosteroids.

The clinical course of bronchiolitis associated with acute otitis media.

Background: Acute otitis media (AOM) is the most common bacterial co-infection of viral bronchiolitis.

Aims: To evaluate the influence of AOM on the clinical course of bronchiolitis.

Subjects: 150 children younger than 24 months old, diagnosed with bronchiolitis, hospitalised between December 1997 and May 1999.

Hepatitis A associated with other focal infections.

Background: Concomitant bacterial and viral infection is a well-known phenomenon, however only very rarely has a bacterial infection been reported during hepatitis A virus infection.

Objective: To evaluate retrospectively the clinical records of children hospitalized with HAV infection for a concomitant infection proved or presumed to be bacterial.

Method: A retrospective study was conducted on all the children hospitalized with hepatitis A infection from 1988-96 in our center.

Perforated gastric ulcer complicating corticosteroid therapy in acute rheumatic fever.

We report an 11-year-old boy with acute rheumatic fever who presented with gastric perforation while treated with corticosteroids (CS). He had been treated initially with acetylsalicylic acid for 11 days, CS replaced the treatment with acetylsalicylic acid due to deterioration of carditis. The possible pathogenesis is discussed.

Recurrent acute disseminated encephalomyelitis associated with acute cytomegalovirus and Epstein-Barr virus infection.

We describe a 5 6/12-year-old girl with recurrent episodes of acute disseminated encephalomyelitis following an acute cytomegalovirus infection and associated reactivated Epstein-Barr virus. Complete clinical recovery was obtained with intravenous immunoglobulin.