Triple A syndrome presenting with myopathy: An Egyptian patient

Triple A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by Adrenocorticotropic hormone resistant adrenal insuffi ciency, Alacrmia, Achalasia of the oesophageal cardia, progressive neurological degeneration and occasionally autonomic instability (making it 4A syndrome). Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism and mild dementia.In this paper we report a 13 year old boy with Allgrove syndrome presentingwith muscular weakness that was confi rmed by EMG studies. To our knowledge, muscle disease in Allogrove syndrome was not reported before.Keywords: Allgrove syndrome, triple A syndrome, alacrmia, cardiac achalasia, adrenal insufficiency

Consanguineous matings among Egyptian population

Consanguinity is the blood relationship that exists among individuals that descend from a common ancestor. The objectives of the study was to explore the frequency and socio-economic determinants of consanguinity in Egypt. The study was carried out using a cross-sectional approach which included 10,000 unselected couples. All couples were recruited from the prenatal, gynecologic, neonatal and pediatric clinics as well as vaccination centers in three hospitals one in Lower Egypt (Cairo) and two in Upper Egypt (Sohag and Assuit). Consanguineous marriage is still high in Egypt (35.3%), especially among first cousins (86%). However the frequency varies by region. It is higher in Sohag (42.2%) and Cairo (36.1%) than in Assuit (21.7%). Also it was higher in rural areas (59.9%) than in semi-urban and urban areas (23.5% and 17.7%, respectively). It was associated with decreased age of marriage, low educational level and unemployment in the couples which means that the socio-economic determinants are still working in maintaining this high rate of consanguinity. This is in addition to the high divorce rate and increased number of unmarried females in Egypt. Advances in genetics have led to a deeper understanding of the effect of inbreeding on the occurrence of genetic diseases. As prolonged parental inbreeding has led to a background of homozygosity above that predicted by simple models of consanguinity, we encourage counselors to call on a reliable computer program for calculation of the recurrence risks in these families. Keywords: Consanguineous marriage; Socio-economic; determinants; Recurrence risk; Egyp

MURCS association: a case report

MURCS association is a rare developmental disorder that affects females. The acronym MURCS stands for Mullerian, Renal, Cervicothoracic Somite abnormalities. It appears to occur randomly (Sporadic) with a frequency of 1 in 50.000 females. In this paper, we present a two-year-old girl with typical features of this syndrome in association with right deviation of anorectal canal, subglottic stenosis and unilateral oblique inguinal hernia.. Keywords: MURCS, congenital torticolis, anorectal- canal, abnormalities. Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 219-22

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum

Abstract Peters anomaly is a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs involving the central or entire cornea. It may be associated with other ocular or systemic abnormalities. Peters Plus syndrome, also known as Krause–Kivlin syndrome, characterized by additional anomalies including short stature with developmental delay, facial dysmorphism, genitourinary abnormalities; syndactyly; brachycephaly; and cardiac, neural, and hearing abnormalities. Here we report an 8 month old boy with typical features of Peters Plus syndrome including eye anomalies, dysmorphic features, global developmental delay, growth retardation, bilateral talipes equinovarus, complex renal anomalies, absent anal canal, sacral agenesis and sensorineural hearing loss. To our knowledge, the last three features were not reported beforeKeywords: Peters anomaly; Corneal opacity; Absent anal canal; Deafnes

Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi

We report a 2 months old boy, the first in order of birth of  non-consanguineous parents, with several typical features of oral-facial-digital syndrome type II (OFDS II) including cleft lip, high arched palate,  retromicrognathia, preaxial polysyndactyly of hands and feet, duplication ofthumb and hallux. Interestingly, the patient also had mesoaxial polydactyly of the left hand with extra metacarpal bones characteristic of OFDS. VI, however mentality and MRI brain were normal. This unusual association may suggest an additional subgroup of OFDSs or a variant of OFDS II due to variable gene expression or a transitional type between OFDS II and OFDS VI

Maternal risk factors in young Egyptian mothers of Down syndrome

Introduction: We investigated the possible maternal risk factors that mayincrease the incidence of Down syndrome (DS) in young Egyptian mothers(younger than 35 years) especially methylene tetrahydrofolate reductase(MTHFR) enzyme C677T polymorphism.Subjects and Methods: The study included 200 mothers of karyotypicallyascertained non-disjunction DS attending Genetics clinic, Children’s hospital, Ain Shams University (100 mothers were < 35 years and 100 mothers ≥ 35 years). 50 mothers of none-DS children served as a control group. For all cases, history was taken laying stress on: Parental ages at conception, maternal grandparent’s ages at conception of mother, DS birth order, history of oral contraceptive use 6 months before conception, genital infection, vitamin supplementation and smoking or exposure to irradiation.Results: MTHFR C677T mutational analysis was done to twenty DS motherswith ages ≤ 35 years revealed that 35% of young mothers had C677T mutation (10% had homozygous mutation and 25% had heterozygous mutation). MTHFR C677T polymorphism was found to be a possible maternal genetic risk factor for DS although statistically non-significant.Other maternal risk factors included the use of oral contraceptive pills (OCP) 6 months before pregnancy which was significantly higher only in DSmothers ≥ 35 years. on the other hand, parental consanguinity, maternal grandparents’ ages, the presence of genital infection and birth order did not show a significant difference between young and old mothers of DS.Conclusion: MTHFR C677T could not be considered as a maternal risk factor in young Egyptian mothers of DS. The risk effect may depend on gene-environment interaction between the genotype and dietary intake in particular folic acid consumption which should be further studied on a larger scale population including other MTHFR polymorphisms and environmental factors. Other risk factors may include the use of OCP in older mothers. Parents consanguinity, paternal age and maternal grandparents’ ages were not found to be risk factors in DS in this study.Keywords: Down syndrome, risk factors, mothers, MTHFR

Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation

Mental retardation is present in about 1–3% of individuals in the general population, but it can be explained in about half of the cases. A descriptive study was carried out to screen for subtle chromosomal rearrangements in a group of Egyptian children with idiopathic mental retardation (IMR) to estimate its frequency if detected. The study enrolled 30 patients with IMR, with the perquisite criteria of bein

Impact of occult hepatitis B virus infection on antiviral therapy in chronic hepatitis C patients

Background: Occult HBV infection (OBI) can be defined by the presence of HBV-DNA in the serum of patients who are negative for HBsAg. The presence of OBI has been associated with a poor therapeutic response to alpha IFN in many, but not in all studies.Objective: The aim of our study was to assess the prevalence of OBI in the serum of Egyptian patients with CHC, and to evaluate its impact on the response to treatment with a combination of Peg-IFNa and RBV.Materials and methods: Fifty chronic HCV infected patients who were treated with Peg-IFNa once a week in combination with RBV for 48 weeks were included in this study. Patients were divided into two groups, group I which included 25 patients who achieved SVR and group II that included 25 patients who failed to achieve SVR (Non-SVR). Both patient groups were subjected to detailed questionnaire, clinical examination, routine laboratory investigations and virological studies.Results: No statistical significant difference was found in sex distribution regarding SVR and Non-SVR. The frequency of patients with low viral load has a statistically significant association.KEYWORDS: Chronic hepatitis C; Occult HBV infection; Sustained virological respons

Mitochondrial alterations in children with chronic liver disease

Background: Over recent years it has become apparent that the hepatocyte mitochondrion functions both as a cause and as a target of liver injury. Resultant dysfunction of mitochondria yields deficient oxidative phosphorylation, increased generation of reactive oxygen species, impairment of other metabolic pathways and activation of both necrotic and apoptotic pathways of cellular death.Methods: This study was conducted on 26 children and adolescents with chronic liver disease who presented to or were following up in the Pediatric Hepatology Clinic, Children’s Hospital, Ain-Shams University. They were divided into three groups according to the aetiology of liver disease (GI=patients with Wilson’s disease (WD), GII=patients with chronic hepatitis C, GIII=patients with chronic liver disease other thanWilson’s and chronic hepatitis C).Ultrasound-guided gun liver biopsies were performed, under local anaesthesia for all the 26 patients, using a modified 18-gauge truecut needle. Two liver biopsy cores were taken from each patient. One for light and electron microscopic examinations and the other was immediately immersed in liquid nitrogen to be frozen and used forstudying mitochondrial DNA deletions by PCR.Results: Liver steatosis was higher in the group of patients with Wilson’s disease and other liver disease. Electron microscopic examination of the mitochondria revealed significant mitochondrial pleomorphism in patients with Wilson’s disease and patients with chronic hepatitis C infection. Enlarged mitochondria were found to bemore prevalent among patients with chronic  hepatitis infection.Three of our patients (11.53%) had mitochondrial DNA deletions. We developed scoring system for mitochondrial affection in our patients, 7 patients (32%) were considered to have mild mitochondrial affection,9 patients (41%) had moderate mitochondrial affection, while 6 patients (27%) had severe mitochondrial affection. Four of the studied patients had no mitochondrial affection.Conclusion: Mitochondria affection is common in chronic liver disease. This mitochondrial affection might be responsible for some of the chronic liver disease manifestation such as easy fatiguability and steatosis

Pooled analysis of WHO Surgical Safety Checklist use and mortality after emergency laparotomy

Background The World Health Organization (WHO) Surgical Safety Checklist has fostered safe practice for 10 years, yet its place in emergency surgery has not been assessed on a global scale. The aim of this study was to evaluate reported checklist use in emergency settings and examine the relationship with perioperative mortality in patients who had emergency laparotomy. Methods In two multinational cohort studies, adults undergoing emergency laparotomy were compared with those having elective gastrointestinal surgery. Relationships between reported checklist use and mortality were determined using multivariable logistic regression and bootstrapped simulation. Results Of 12 296 patients included from 76 countries, 4843 underwent emergency laparotomy. After adjusting for patient and disease factors, checklist use before emergency laparotomy was more common in countries with a high Human Development Index (HDI) (2455 of 2741, 89.6 per cent) compared with that in countries with a middle (753 of 1242, 60.6 per cent; odds ratio (OR) 0.17, 95 per cent c.i. 0.14 to 0.21, P <0001) or low (363 of 860, 422 per cent; OR 008, 007 to 010, P <0.001) HDI. Checklist use was less common in elective surgery than for emergency laparotomy in high-HDI countries (risk difference -94 (95 per cent c.i. -11.9 to -6.9) per cent; P <0001), but the relationship was reversed in low-HDI countries (+121 (+7.0 to +173) per cent; P <0001). In multivariable models, checklist use was associated with a lower 30-day perioperative mortality (OR 0.60, 0.50 to 073; P <0.001). The greatest absolute benefit was seen for emergency surgery in low- and middle-HDI countries. Conclusion Checklist use in emergency laparotomy was associated with a significantly lower perioperative mortality rate. Checklist use in low-HDI countries was half that in high-HDI countries.Peer reviewe