Moyamoya disease in a child

A 6 year old boy presented with sign symptoms of cerebral stroke. After clinical and radiological evaluation, a diagnosis of bilateral moyamoya disease was made. An indirect bypass surgery encephaloduroateriosynangiosis was done on the right side at first then on the left side.  Patient was partially improved. At one year follow-up, there was the evidence of occlusion of collateral circulation on the right side and the patient became symptomatic again. It is noted that, although the early indirect bypass surgery is indicated in the pediatric patients for preventing the stroke but the outcome is difficult to judge

Bardet-Biedl syndrome

The Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Mutations in 16 genes have been identified as causative factors. We, here, have presented a 12 year old male patient exhibiting characteristic features of Bardet Biedl syndrome.

Hutchinson-Gilford progeria syndrome

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disease in which symptoms of aging are manifested at an early age. In the present report, we describe a 9 months old female child presented with a history of progressive coarsening of skin, failure to thrive and irregular bumps over thighs, buttocks and lower limbs for the last 7½ months. In the course of time, she developed alopecia, hyperpigmented spots over the abdomen with thickening and a typical facial profile of HGPS including micrognathia, absent ear lobules, prominent eyes, loss of eyelashes, eyebrows and a bluish hue over the nose

Silver-Russell syndrome

Silver-Russell syndrome is clinically and genetically a heterogeneous disorder. In most of the cases, etiology is unknown, only in 10% cases defect in chromosome 7 is identified. It bas distinctive facial features and asymmetric limbs. Most predominant symptom is growth failure. A case of Silver-Russell syndrome reported here who presented with growth failure, hemihypertrophy ofleft side oftbe body, dysmorphic facial profile and difficulty in speech. Counseling was done with the parents regarding the etiology, progression and outcome of the disease

Types and Clinical Profile of Rickets in a Tertiary Care Hospital

Background: There are different types of rickets. Rickets presents with various clinical signs and symptoms. Familial X linked hypophosphatamic rickets (XLHR) is reported to be the commonest one. Objectives: To find out the types of rickets and the presenting features of rickets. Setting: Department Paediatrics, Bangabandhu Sheikh Mujib Medical University (BSMMU). Design: Descriptive type of study. Methods: A total number of 20 children with rickets were included in this study during the period of January 2004 to July 2008. A questionnaire was used for compiling the information. Data were compiled manually and expressed as frequency distribution table. Result: Male: Female ratio was 13:7. Mean age of the patients was 49.36 months. Nutritional and familial hypophosphatamic rickets constituted the majority, each of the type being 40%. Common clinical presentations included limb weakness (90%), growth failure (90%) and repeated respiratory tract infection (80%). Widening of the wrist were present in 90% of patients. Rachitic rosary and protruded abdomen were present in 80% of cases. Radiological findings of rickets were present in 100% of patients. Conclusion: Nutritional and XLHR rickets were the common type. Common clinical features were weakness of limbs, growth failure and widening of wrists. Key words: Rickets; nutritional; XLHR; RTA.DOI: 10.3329/bsmmuj.v2i1.3703 BSMMU J 2009; 2(1): 3-

Larsen syndrome

Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD) with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients.

Maternal and neonatal serum zinc level and its relationship with neural tube defects

Neural tube defect (NTD) is a multi-factorial disorder in which nutritional, genetic and environmental factors are involved. Among the nutritional factors, low level of serum zinc has been reported from differ-ent parts of the world. This hospital-based case-control study was conducted with the objective of finding the relationship between serum zinc level in newborns and their mothers and NTDs in a Bangladeshi population. The study was conducted during August 2006-July 2007 at the Bangabandhu Sheikh Mujib Medical University (BSMMU) in Dhaka. In total, 32 mothers and their newborns with NTDs were included as cases and another 32 mothers with their normal babies were included as controls. Concentration of se-rum zinc was determined by pyro-coated graphite furnace atomic absorption spectrophotometer (GF-AAS). The mean age of the case and control mothers was 25.28 years and 24.34 years respectively. The mean gestational age of the case newborns was 36.59 weeks and that of the control newborns was 37.75 weeks. The mean serum zinc level of the case and control mothers was 610.2 \u3bcg/L and 883.0 \u3bcg/L respectively (p<0.01). The mean serum zinc level of the case and control newborns was 723 \u3bcg/L and 1,046 \u3bcg/L respec-tively (p<0.01). In both case and control groups, the serum zinc level of the newborns positively correlated with that of the mothers. The serum zinc levels of the mothers and newborns negatively correlated with NTDs. Mothers with serum zinc level lower than normal were 7.66 [95% confidence interval (CI) 2.5-23.28] times more likely to have NTDs compared to the normal zinc level of mothers. After adjusting for the zinc level of the newborns, parity, and age of the mothers, this risk reduced 1.61 times [confidence interval (CI) 95% 0.24-8.77]. On the other hand, the low serum zinc level of the newborns was 7.22 times more associated with NTDs compared to the newborns with the normal serum zinc level, which was statistically significant (p=0.001). After adjusting for other factors, such as maternal age and parity, newborns with the low serum zinc level was found to be 9.186 times more likely to be associated with NTDs compared to new-borns with normal serum zinc level. Based on the findings, it may be concluded that the low serum zinc levels of newborns may be associated with NTDs. To confirm these findings, a further study with a larger sample-size is recommended. Moreover, a follow-up study with zinc supplementation to pregnant women and its impact on NTDs is also recommended

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.BCAC is funded by Cancer Research UK (C1287/A10118, C1287/A12014) and by the European Community's Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS). Meetings of the BCAC have been funded by the European Union COST programme (BM0606). Genotyping on the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710, C8197/A16565), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer program and the Ministry of Economic Development, Innovation and Export Trade of Quebec, grant PSR-SIIRI-701. Combination of the GWAS data was supported in part by the US National Institutes of Health (NIH) Cancer Post-Cancer GWAS initiative, grant 1 U19 CA148065-01 (DRIVE, part of the GAME-ON initiative). For a full description of funding and acknowledgments, see the Supplementary Note.This is the author accepted manuscript. The final version is available from NPG via http://dx.doi.org/10.1038/ng.324