Overview on the first human cytogenetic research in Sudan

Introduction: The present study is the first human cytogenetic project in Sudan which was titled: Cytogenetic and FISH analyses in Sudanese patients with dysmorphic features, ambiguous genitalia, and infertility. The aim of the present study was not only to characterize the genetic alterations in patients with dysmorphic features, ambiguous genitalia and/or infertility among Sudanese population, but also to attract the medical community attention to the importance of human cytogenetics in clinical genetics practice, and also to facilitate the introduction and clinical application of such valuable service in Sudan. Materials and Methods: In this study chromosomal G–banding and fluorescence in situ hybridisation (FISH) analysis were performed on 44 Sudanese patients, 29 females, 14 males, and one patient with unassigned sex. Patients age ranging between 17 days-39 years (mean 18 years), Of the 44 patients, 20 had ambiguous genitalia, 8 dysmorphic features, 11 have puberty and/or fertility complains, and 5 were healthy individual (parents of 3 patients with dysmorphic features). Results: Cytogenetic analysis of 20 patients complaining of ambiguous genitalia (13 females and 6 males, and one case with unassigned sex) showed that 8 has karyotypes different from their assigned sex and the other cases showed karyotypes consistent with Edward syndrome (47,XX,+18) (case 7), and a case with 45,Xdel(X)(p11) (case 11) respectively, when using FISH the 45,Xdel(X)(p11) case showed translocation of the SRY (sex-determining region Y), gene to the active X chromosome. For the 8 patients of dysmorphic features; five showed karyotypes consistent with Down syndrome, of which one showed Robertsonian translocation, with both FISH and ordinary G-banding, and the other three showed normal karyotypes. All the parents showed normal karyotypes. Among the infertility cases all showed normal karyotypes, except for two which showed karyotypes consistent with Turner syndrome and one which showed a male karyotype although the case was raised as a female; ultrasound showed a mass in the position of prostate. Discussion: The study, the ever first one in Sudan, assured the importance, the possibility, and the need for cytogenetic and FISH analysis in diagnosis, management and genetic counseling of genetic diseases caused by constitutional chromosomal changes among Sudanese patients. Sudan Journal of Medical Sciences Vol. 1(1) 2006: 25-3

Phenotypes in Sudanese Diabetic Patients

Abstract In this case -control study conducted during the period from February 2013 to January 2015, Haptoglobin phenotypes in diabetes patients has been investigated in 300 type 2 diabetic patients and 100 non diabetic healthy controls in Sudan. The samples were obtained from Elmotakmel diabetic center in Omdurman, Sudan and were categorized by their haptoglobin phenotypes using Polyacrylamide gel electrophoresis. The result of the study showed no significant difference in the distribution of haptoglobin phenotypes. Diabetic patients with Hp 2-2 phenotype tend to had highest fasting blood glucose levels and lower hemoglobin levels

Evaluation of Immune Response to Hepatitis B Vaccine among Malnourished Children in Yemen

Objectives: To determine the coverage rate of hepatitis B virus (HBV) vaccine and to evaluate the immune response to HBV vaccine by measuring hepatitis B surface antibody (anti-HBs) among malnourished under-five-year old children.Methods: A cross-sectional study was conducted in two tertiary hospitals in Yemen; Al-Sabeen Maternity and Child Hospital in Sana’a and the Yemeni-Swedish Hospital in Taiz city in the period from March 2014 to Dec. 2014. The target population was malnourished children aged from 6 to 59 months old with a history of three HBV vaccine doses in infancy. According to the World Health Organization’s definition of malnutrition, 121 malnourished children were enrolled in the study. Data of malnourished children were collected using a pre-designed, pre-tested questionnaire. Two milliliters of venous blood were taken, and anti-HBs was then tested by enzyme linked immunosorbent assay. An anti-HBs level of at least 10 IU/L was considered a successful response to the vaccine.Results: The coverage rate of HBV vaccine among malnourished children was 89.3%, being higher among girls (52.1%) than boys (37.2%). Response to HBV vaccine (≥10 IU/L) was observed in 72.2% (78/108) of children while 27.8% (30/108) of children failed to respond to the vaccine, with a statistically significant difference (p <0.001).Conclusions: A good HBV vaccine coverage rate was found among malnourished Yemeni children, with a moderate rate of protection. Therefore, re-vaccination or administration of booster doses to a substantial proportion of vaccinated children should be considered

A case of Cornelia de Lange syndrome from Sudan

BACKGROUND: Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. CASE PRESENTATION: Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a case of malnutrition. The patient was from a Sudanese western tribe. Clinical investigation showed that the child was a classical case of BDLS, but with some additional clinical findings not previously reported including crowded ribs and tied tongue. CONCLUSION: Reporting BDLS cases of different ethnic backgrounds could add nuances to the phenotypic description of the syndrome and be helpful in diagnosis

Chromosomal aberrations in benign and malignant Bilharzia-associated bladder lesions analyzed by comparative genomic hybridization

BACKGROUND: Bilharzia-associated bladder cancer (BAC) is a major health problem in countries where urinary schistosomiasis is endemic. Characterization of the genetic alterations in this cancer might enhance our understanding of the pathogenic mechanisms of the disease but, in contrast to nonbilharzia bladder cancer, BAC has rarely been the object of such scrutiny. In the present study, we aimed to characterize chromosomal imbalances in benign and malignant post-bilharzial lesions, and to determine whether their unique etiology yields a distinct cytogenetic profile as compared to chemically induced bladder tumors. METHODS: DNAs from 20 archival paraffin-embedded post-bilharzial bladder lesions (6 benign and 14 malignant) obtained from Sudanese patients (12 males and 8 females) with a history of urinary bilharziasis were investigated for chromosomal imbalances using comparative genomic hybridization (CGH). Subsequent FISH analysis with pericentromeric probes was performed on paraffin sections of the same cases to confirm the CGH results. RESULTS: Seven of the 20 lesions (6 carcinomas and one granuloma) showed chromosomal imbalances varying from 1 to 6 changes. The most common chromosomal imbalances detected were losses of 1p21-31, 8p21-pter, and 9p and gain of 19p material, seen in three cases each, including the benign lesion. CONCLUSION: Most of the detected imbalances have been repeatedly reported in non-bilharzial bladder carcinomas, suggesting that the cytogenetic profiles of chemical- and bilharzia-induced carcinomas are largely similar. However, loss of 9p seems to be more ubiquitous in BAC than in bladder cancer in industrialized countries