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

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

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

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

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

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

Visualization of a Small Jet Synthetic Using a Particle Image Velocimetry and Background-Oriented Schlieren Techniques

This work reports the results of experimental investigations carried out on a submerged synthetic jet obtained through the use of a headset speaker piloted with an appropriate sinusoidal signal at a frequency of 380 Hz. The study begins with the construction of a device that, exploiting the well-known transport properties of impacting jets, was able to improve local ventilation and the removal of excess moisture, due to the natural transpiration of human skin in people forced to assume the same position for prolonged periods such as professional drivers; bedridden patients; etc… Subjects are substantially forced to have parts of their own body in contact with fabrics and coverings that hinder the normal conditions of skin transpiration. The experimental activity was first based on the study of the structure of the synthetic jets, then moving on to the creation of a sponge mat equipped with 80 individual jets. On this sponge mat, semi-empirical tests were carried out in order to remove moisture from a fabric soaked in distilled water. The experimental investigations were first carried out using the PIV technique, and, subsequently, the synthetic jet was visualized using the Background-Oriented Schlieren (BOS) technique which allowed to test the presence of the jets, installed directly on the mattress, in a relatively simple and fast way, requiring a very simplified set-up

Effects of ambient temperature, humidity, and other meteorological variables on hospital admissions for angina pectoris.

BACKGROUND: Seasonal peaks in cardiovascular disease incidence have been widely reported, suggesting weather has a role. DESIGN: The aim of our study was to determine the influence of climatic variables on angina pectoris hospital admissions. METHODS: We correlated the daily number of angina cases admitted to a western Sicilian hospital over a period of 12 years and local weather conditions (temperature, humidity, wind force and direction, precipitation, sunny hours and atmospheric pressure) on a day-to-day basis. A total of 2459 consecutive patients were admitted over the period 1987-1998 (1562 men, 867 women; M/F - 1:8). RESULTS: A seasonal variation was found with a noticeable winter peak. The results of Multivariate Poisson analysis showed a significant association between the daily number of angina hospital admission, temperature, and humidity. Significant incidence relative ratios (95% confidence intervals/measure unit) were, in males, 0.988 (0.980-0.996) (p = 0.004) for minimal temperature, 0.990 (0.984-0.996) (p = 0.001) for maximal humidity, and 1.002 (1.000-1.004) (p = 0.045) for minimal humidity. The corresponding values in females were 0.973 (0.951-0.995) (p < 0.017) for maximal temperature and 1.024 (1.001-1.048) (p = 0.037) for minimal temperature. CONCLUSIONS: Environmental temperature and humidity may play an important role in the pathogenesis of angina, although it seems different according to the gender. These data may help to understand the mechanisms that trigger ischemic events and to better organize hospital assistance throughout the year