Mowat-Wilson syndrome: growth charts.

Background: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Purpose: Mowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.

The usefulness of advanced lipid and oxidative stress testing for diagnosis and management of low HDL-cholesterol phenotype: A case report.

Objective: Plasma high-density lipoprotein cholesterol (HDL-C) level is a strong inverse predictor of cardiovascular disease (CVD) development. Tangier disease, a consequence of mutations in the ATP binding cassette transporter 1 (ABCA1) gene, is associated with very low HDL-C levels. Still, the relationship between Tangier disease and CVD is not always evident.

Determinants of job satisfaction of healthcare professionals in public hospitals in Belgrade, Serbia--Cross-sectional analysis.

Introduction: The quality of health care significantly depends on the satisfaction of the employees.

Objective: The objective of this study was to establish the level of professional satisfaction of healthcare professionals in state hospitals in Belgrade, Serbia, and to determine and to rank the factors which impact on their satisfaction or dissatisfaction.

Method: Professional satisfaction survey was designed and conducted as a cross-sectional study in 2008.

Health-related quality of life, anxiety, and depressive symptoms in children with primary immunodeficiencies.

Introduction: The aims of this study were to evaluate levels of health-related quality of life (HRQOL) and the presence of anxiety and depressive symptoms in children with primary immunodeficiency disease (PID) in Serbia.

Materials And Methods: Self- and parent-rated data from 25 children with PID were available. As controls, data from 50 children with juvenile idiopathic arthritis (JIA) and 89 healthy children were included.

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia, and hypogonadism. Widespread fibrosis leads to multiple organ failure. Mutations in ALMS1 cause Alström syndrome.

Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

. LEOPARD syndrome 2 (LS-2) (OMIM #611554) is a rare, dominantly inherited genetic disorder affecting multiple organ systems. We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both with proven mutations in the RAF1 gene not previouslyreported in pediatric patients.

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.

Background: Intracardiac myxomas in Carney complex are significant causes of cardiovascular morbidity and mortality through embolic stroke and heart failure. The genetic, clinical, and laboratory characteristics of Carney complex-related strokes from atrial myxomas have not been described. The regulatory subunit (R1A) of the protein kinase gene (PRKAR1A) is mutated in >60% of patients with Carney complex.

[Stenting aortic coarctation in children: immediate and mid-term results].

Introduction: Stent implantation, in patients with different forms of aortic coarctation, has significant theoretical advantages over primary balloon dilatation (BD). It can achieve over-dilatation of the coarcted segment with the rigid endoprothesis maintaining the increase in vessel diameter regardless of the intimal injury and, thus, reducing the likelihood of restenosis. Moreover, by preventing vascular recoil, stents can successfully expand long-segment tubular coarctations, hypoplastic isthmus and hypoplastic transverse aortic arch.

Early recurrent left atrial myxoma in a teenager with de novo mutation of Carney complex.

We report a case of an extremely early recurrence of left atrial myxoma in a 13-year-old girl. On hospital admission, the clinical presentation was of cerebral embolism with noticeable spotty skin pigmentation and hypertelorism. The left atrial myxoma originated from the roof of the left atrium.

Liddle syndrome in a Serbian family and literature review of underlying mutations.

Unlabelled: Severe and reproducible low-renin hypertension responsive to salt restriction and amiloride-thiazide therapy in a 13-year-old otherwise asymptomatic boy suggested Liddle syndrome. This assumption was strengthened by a positive family history of hypertension poorly responsive to conventional treatment or sudden deaths under 40 years of age in four generations. DNA analysis of the beta and gamma subunits of the epithelial sodium channel revealed a heterozygous mutation c.

[Adams-Oliver syndrome: case report].

Introduction: Adams-Oliver syndrome is characterized by congenital aplasia of the vertex skin of the skull in combination with skull and transverse limb defects.

Case Outline: We presented a 5-month old female infant with Adams-Oliver syndrome manifested as cutis marmorata, dilated scalp veins and limb reduction defects. Clinical manifestation also included thumb hypoplasia and extreme hypoplasia of other fingers, with agenesis of all toes on both feet.

[Assessment of health care quality in the tertiary level pediatric hospitals in Serbia].

Background/aim: It is necessary to improve the quality of health care for children. Assessment data would provide new insights into better treatment outcomes. The aim of this descriptive study was to estimate and to compare applied quality indicators in five pediatric in-patient tertiary level institutions in Serbia during the period from January 1st to December 31st 2008.

An unusual presentation of cardiomyopathy in a patient with microcephaly-cardiomyopathy syndrome.

We report the case of a 15-year-old male patient with microcephaly, dilated cardiomyopathy, mental retardation, secondary hypopituitarism, and minor dysmorphic features: downward- slanting palpebral fissures, narrow palate, small and low-set ears, fifth finger clinodactyly, sandal gaps on both feet, and anal stenosis. He was admitted to the pediatric intensive care unit with signs of progressive cardiac failure. Lethal outcome occurred 25 days after admission.