Abnormal presentation of Peters’ anomaly in a family with microcornea cataract syndrome

A case of Peters’ anomaly with bilateral crease on ear lobule and hypospadiuswas reported in a family with microcornea, cataract syndrome. The eyes hadall the features of Perters’ Anomaly. The combination of these fi ndings has not been reported in literature to our know ledge, making this case a unique one.Keywords: Peters’ anomaly, persistent papillary membrane, ear lobule crease, hypospadius, microcornea, cataract syndrome

Genetics of obesity

There is now widespread recognition that the continuing increase in the prevalence of obesity seen in many countries is likely to have major adverse effects on public health. The National Center for Health Statistics reports that 61% of adults in the United States are overweight and 26% are obese. Also The National Health and Nutrition Examination Survey IV, 1999–2002, documents that 16% of children are overweight and 31% are at risk of becoming overweight or are already overweight, representing nearly a 300% increase since the 1960s. The genetic influences are likely to be particularly powerful in people with severe and early-onset obesity, the group is most likely to suffer adverse clinical consequences. In this review we will discuss the Genetics of body weight regulation including genes encoding factors regulating food/energy intake, genes encoding factors implicated in energy expenditure, and genes encoding factors implicated in adipogenesis as well as syndromic forms of obesity.Keywords: Obesity; Body weight regulation; Obesity syndrome

Holoprosencephaly:a report of 2 cases with different presentations

Holoprosencephaly is a common developmental defect of the forebrain and midface in humans. Clinical expression is variable, extending in unbroken sequence from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial holoprosencephaly. Here, we describe two unrelated affected cases, with alobar, and semilobar holoprosencephaly with different presentations and clarified the associated phenotypic changes in form of microcephaly, hypotelorism, flat nose, a single nostril, a midline cleft lip and palate in the first case and solitary median maxillary central incisor, associated with prominent midline palatal ridge in the second case Keywords: Holoprosencephaly, ocular hypotelorism, central incisor, microcephaly, cleft lipEgyptian Journal of Medical Human Genetics Vol. 9 (2) 2008: pp. 249-25

Frontofacionasal dysplasia: another observation

Frontofacionasal dysplasia (FFND) is a rare group of disorders, characterized by ocular hypertelorism and frontonasal process anomalies in which clinical and etiological heterogeneity have been recognized since the first review by Gollop 1981.1 Frontofacionasal dysplasia is inherited as an autosomal recessive genetic trait. We report on a 10 month old male whose parents are non consanguineous. The patient has severe craniofacial anomalies characterized by: hypertelorism, unilateral (Right sided) malformed eye, lagophthalmos, irregular Sshaped palpebral fissures, deformed nostrils, hypoplastic nasal wing, cleft lip, cleft palate and meningeocele. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia and in our case is associated with facial heamangioma. To our knowledge, facial heamangioma in association with FFND have not been described before Keywords: Hypertelorism, facial hemangioma, frontofacionasal dysplasia. Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 225-22

Congenital malformations prevalent among Egyptian children and associated risk factors

According to the World Health Organization the term congenital anomaly includes any morphological, functional, biochemical or molecular defects that may develop in the embryo and fetus from conception until birth, present at birth, whether detected at that time or not. Based on World Health Organization report, about 3 million fetuses and infants are born each year with major malformations. Several large population based studies place the incidence of major malformations at about 2–3% of all live births. In this study we tried to assess the frequency and nature ofcongenital malformations (CMs) among Egyptian infants and children as well as the associated maternal, paternal and neonatal risk factors. Patients (13,543) having CMs were detected among 660,280 child aged 0–18 years attending the Pediatric Hospital Ain Shams University during the period of the study (1995–2009), constituting 20/1000. Males were more affected than females (1.8:1). According to ICD-10 classification of congenital malformations the commonest system involved were, nervous system, followed by chromosomal abnormalities, genital organs, urinarysystem, musculoskeletal, circulatory system, eye, ear, face, and neck, other congenital anomalies, digestive system, cleft lip and palate, and respiratory anomalies. Among the maternal risk factors detected were multiparity, age of the mother at conception, maternal illness, exposure to pollutants, and intake of the drugs in first months. Consanguineous marriage was detected in 45.8% of patients. Surveys of CMs must be done in every country to provide prevalence, pattern of occurrence, nature, identify causes, and associated risk factors to prevent or reduce the occurrence of CMs

C syndrome in an Egyptian infant with dilated brain ventricles and heteroto pia

C syndrome is an autosomal recessive disorder characterized by trigonocephaly, partial or complete obliteration of the metopic suture which is characteristic, and short limbs. In this paper we describe an Egyptian boy affected with this syndrome, with no exophthalmos and with dilated brain ventricles and heterotopia. Keywords: C syndrome, trigonocephaly, cutaneous syndactyly, metopic sutureEgyptian Journal of Medical Human Genetics Vol. 9 (2) 2008: pp. 257-26

Ellis–van Creveld syndrome with facial dysmorphic features in an Egyptian child

Ellis–van Creveld syndrome (EVC) is a chondroectodermal dysplasia. The tetrad of cardinal features includes disproportionate dwarfism, bilateral postaxial polydactyl of hands, hidrotic ectodermal dysplasia, and congenital cardiac malformations. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. We report a patient with the typical features of the syndrome but with facial dysmorphic features (upward slant of eyes, megalocornea and high forehead), for the first time in the literature

Impact of safety-related dose reductions or discontinuations on sustained virologic response in HCV-infected patients: Results from the GUARD-C Cohort

BACKGROUND: Despite the introduction of direct-acting antiviral agents for chronic hepatitis C virus (HCV) infection, peginterferon alfa/ribavirin remains relevant in many resource-constrained settings. The non-randomized GUARD-C cohort investigated baseline predictors of safety-related dose reductions or discontinuations (sr-RD) and their impact on sustained virologic response (SVR) in patients receiving peginterferon alfa/ribavirin in routine practice. METHODS: A total of 3181 HCV-mono-infected treatment-naive patients were assigned to 24 or 48 weeks of peginterferon alfa/ribavirin by their physician. Patients were categorized by time-to-first sr-RD (Week 4/12). Detailed analyses of the impact of sr-RD on SVR24 (HCV RNA <50 IU/mL) were conducted in 951 Caucasian, noncirrhotic genotype (G)1 patients assigned to peginterferon alfa-2a/ribavirin for 48 weeks. The probability of SVR24 was identified by a baseline scoring system (range: 0-9 points) on which scores of 5 to 9 and <5 represent high and low probability of SVR24, respectively. RESULTS: SVR24 rates were 46.1% (754/1634), 77.1% (279/362), 68.0% (514/756), and 51.3% (203/396), respectively, in G1, 2, 3, and 4 patients. Overall, 16.9% and 21.8% patients experienced 651 sr-RD for peginterferon alfa and ribavirin, respectively. Among Caucasian noncirrhotic G1 patients: female sex, lower body mass index, pre-existing cardiovascular/pulmonary disease, and low hematological indices were prognostic factors of sr-RD; SVR24 was lower in patients with 651 vs. no sr-RD by Week 4 (37.9% vs. 54.4%; P = 0.0046) and Week 12 (41.7% vs. 55.3%; P = 0.0016); sr-RD by Week 4/12 significantly reduced SVR24 in patients with scores <5 but not 655. CONCLUSIONS: In conclusion, sr-RD to peginterferon alfa-2a/ribavirin significantly impacts on SVR24 rates in treatment-naive G1 noncirrhotic Caucasian patients. Baseline characteristics can help select patients with a high probability of SVR24 and a low probability of sr-RD with peginterferon alfa-2a/ribavirin

Pentoxifylline as an adjunct therapy in children with cerebral malaria

<p>Abstract</p> <p>Background</p> <p>Pentoxifylline (PTX) affects many processes that may contribute to the pathogenesis of severe malaria and it has been shown to reduce the duration of coma in children with cerebral malaria. This pilot study was performed to assess pharmacokinetics, safety and efficacy of PTX in African children with cerebral malaria.</p> <p>Methods</p> <p>Ten children admitted to the high dependency unit of the Kilifi District Hospital in Kenya with cerebral malaria (Blantyre coma score of 2 or less) received quinine plus a continuous infusion of 10 mg/kg/24 hours PTX for 72 hours. Five children were recruited as controls and received normal saline instead of PTX. Plasma samples were taken for PTX and tumour necrosis factor (TNF) levels. Blantyre Coma Score, parasitemia, hematology and vital signs were assessed 4 hourly.</p> <p>Results</p> <p>One child (20%) in the control group died, compared to four children (40%) in the PTX group. This difference was not significant (p = 0.60). Laboratory parameters and clinical data were comparable between groups. TNF levels were lower in children receiving PTX.</p> <p>Conclusions</p> <p>The small sample size does not permit definitive conclusions, but the mortality rate was unexpectedly high in the PTX group.</p