Background: In the human species, twin is a type of multiple birth in which the mother gives birth to two offspring from the same pregnancy. The occurrence and frequency of twinning, however, varies across human populations. The maternal age, socio-environmental factors, increase in the use of contraceptives, the race of human population, increase in the spontaneous abortion rate, and seasonal variations are among the factors that could influence twinning rate. Information on twinning rates in southwest Nigeria is limited. Aims : This study presents information on the frequency of twinning, as well as its analysis by maternal age, in four urban settings in southwest Nigeria. This is with the aim of extending current knowledge on the frequency of twinning in southwest Nigeria and contributing to the demographic studies in the country. Materials and Methods: Data on single births and twin births from January 1995 to December 2004 were collected from the Oyo State General Hospital (OSGH), Wesley Guild Hospital (WGH), Obafemi Awolowo University Teaching Hospital (OAUTH), and Ekiti State Specialist Hospital (ESSH) in Ogbomoso, Ilesa, Ile-Ife, and Ado-Ekiti respectively. These were analyzed by year and maternal age groups of 15-19, 20-24, 25-29, 30-34, 35-39, 40-44, and 45-49 years according to the standard method. Results: A frequency of twin births of 46.5 per 1000 deliveries and 46.2 per 1000 deliveries was recorded for Ilesa and Ile-Ife respectively. The frequency recorded for Ogbomoso and Ado-Ekiti was 38.5 and 22.1 per 1000 deliveries respectively. The overall average frequency of 40.2 per 1000 deliveries for the four hospitals ranks among the highest recorded rates of twin births in the world. The maternal age group of 25-29 years had the highest occurrence of twin births, while the lowest was recorded in the 45-49 years age group. Conclusion: This analysis reveals high incidence of twinning in the studied areas and supports previous assertion that the southwestern part of Nigeria has the highest twinning rate in the country and in the whole world. It is our opinion that diet, maternal history of twinning, and some socio-environmental factors may have influenced the results.

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A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome.

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Background: Standard methods of mutation detection are time consuming in Hemophilia A (HA) rendering their application unavailable in some analysis such as prenatal diagnosis. Objectives: To evaluate the feasibility of combinatorial sequencing-by-hybridization (cSBH) as an alternative and reliable tool for mutation detection in FVIII gene. Patients/Methods: We have applied a new method of cSBH that uses two different colors for detection of multiple point mutations in the FVIII gene. The 26 exons encompassing the HA gene were analyzed in 7 newly diagnosed Italian patients and in 19 previously characterized individuals with FVIII deficiency. Results: Data show that, when solution-phase TAMRA and QUASAR labeled 5-mer oligonucleotide sets mixed with unlabeled target PCR templates are co-hybridized in the presence of DNA ligase to universal 6-mer oligonucleotide probe-based arrays, a number of mutations can be successfully detected. The technique was reliable also in identifying a mutant FVIII allele in an obligate heterozygote. A novel missense mutation (Leu1843Thr) in exon 16 and three novel neutral polymorphisms are presented with an updated protocol for 2-color cSBH. Conclusions: cSBH is a reliable tool for mutation detection in FVIII gene and may represent a complementary method for the genetic screening of HA patients.

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Background: Imbalance in hormonal levels, regulated by host genetic factors, are known to be a major cause of obesity. Therefore, we aimed to evaluate association of genetic polymorphisms of β₂ -adrenergic receptor (β₂ -AR) and insulin receptor substrate-1 (IRS-1) with hormonal levels in northern Indian obese. Methods: A total of 111 obese and 89 age matched non-obese subjects were studied after taking detailed clinical profile. Hormonal assays in serum/plasma for different hormones were done using IRMA and RIA kits. Genetic analysis of β₂ -AR (-47 and -20, T to C) and IRS-1 (Arg972Gly) was done using PCR-RFLP. Statistical Analysis: Statistical analysis was performed by SPSS (version 11.5) software. All continuous variables were expressed as mean ± SD and tested by ANOVA test. Comparisons of categorical variables were assessed using X2 tests or Fisher's exact test. P-value <0.05 was considered as significant. Results: Analysis showed that obese subjects had significantly higher value of blood pressure (systolic), WHR, leptin insulin and glucagon and lower value of GH. In β₂ -AR (-47) T/C and IRS-1 Gly972Arg gene polymorphisms we did not found significant differences in genotype or allele frequencies. Moreover, none of the studied hormonal or metabolic parameters showed any association with the gene polymorphisms. Conclusions: Study reveals no significant association of β₂ -AR (-47 and -20, T to C) and IRS-1 Gly 972 Arg polymorphisms with obesity in northern Indians.

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Aim: The aim of the present study was to identify the possible genotypic association of 3'UTR Hind III polymorphism of Plasminogen activator Inhibitor-1 (PAI-1) gene with idiopathic pulmonary arterial hypertension (IPAH). Background: IPAH is a disorder with abnormally raised mean pulmonary arterial pressure and increase in the resistance to blood flow in pulmonary artery. One of the pathological features seen is development of intraluminal thrombin deposition leading to thrombosis. Plasminogen activator inhibitor-1 is an important inhibitor of the fibrinolytic system; its up-regulation may suppress fibrinolysis and result in an increased risk of thrombosis. Method: Blood samples from 54 IPAH patients and 100 healthy voluntary donors were analyzed by PCR-RFLP method for 3'UTR Hind III polymorphism. Results and Discussion: A significant association of Hd2 allele with the disease was observed. Raised mean level of right ventricular systolic pressure was observed in the Hd2/Hd2 genotypic patients, strengthening the role of Hd2 allele in the disease progression. Our data suggests an association of Hd2/Hd2 genotype, which may lead to the up-regulation of PAI-1 gene leading to increased levels of PAI-1, which is seen in IPAH. PAI-1 competes with plasminogen activators and hinders the normal mechanism of plasminogen activation system and leads to thrombosis and formation of plexiform lesions in the lung tissue, further strengthening its role in tissue remodeling and disease progression.

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I report a case of a patient who suffered schizophrenia and multiple exostoses and argue the possible role of EXT gene and nearly chromosomal loci in further genetic investigations related to schizophrenia.

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