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Biomedical subjects

A Omer

Publications and source records attributed to A Omer.

At least 37 records · Page 2Linked to original sources

A study of alpha thalassaemia families in western Saudi Arabia.

In Saudi Arabia there are three alpha globin chain alleles alpha alpha/, -alpha/, alpha alpha T/-producing six genotypes. In this study of 12 alpha thalassaemia families, the phenotypic expression of these six genotypes is determined. Globin chain biosynthesis gave five non overlapping ratios of 0.9 +/- 0.05, 0.69 +/- 0.06, 0.5 +/- 0.03, 0.38 +/- 0.04 and 0.23 +/- 0.06. The five groups are shown to be normal, alpha thal 2 trait with genotype -alpha/ alpha alpha, mild alpha thal 1 with -alpha/-alpha and alpha alpha/alpha alpha T as genotypes, severe alpha thal 1 with genotype -alpha/alpha alpha T and Hb H disease. The red cell indices MCV, MCH and MCHC of the groups show a step ladder fall. Hb H inclusions in red cells are slight in the mild alpha thal 1 and rises to gross in Hb H disease. The latter disease also shares typical red blood cell appearances with severe alpha thal 1. Hb H disease is relatively mild with no gross bony changes.

Adolescent↗

Respiratory insufficiency in a severe autosomal recessive form of muscular dystrophy.

In a large Sudanese kindred of 176 individuals, 15 children developed a brief respiratory illness in the course of a severe autosomal recessive muscular dystrophy (MD) and eight of them died. The type of MD in this kindred delineates a newly recognized entity which has been described from Sudan, Tunisia, Libya and Qatar . To assess the role of pulmonary insufficiency in the fatal outcome of this disease, pulmonary function was studied in six of the survivors. Values of lung volume were grossly abnormal and revealed a restrictive pattern. The degree of lung volume restriction varied from 50 to 76% of predicted total lung capacity (TLC) and 31-55% of predicted forced vital capacity (FVC). The high FEV1/FVC ratio (80-100%) in all patients excluded airway obstruction and the elevated ratio of residual volume (RV) to TLC (51-68%) reflected loss of inspiratory capacity. FVC showed no correlation with the degree of muscular disability and did not seem to be affected by the mild scoliosis seen in five children. These results are discussed in view of similar studies in a variety of neuromuscular disorders.

Adolescent↗

The inter- and intra-tribal distribution of red cell G6PD phenotypes in Sudan.

1,416 males and 564 female subjects from four Negroid and five Arab tribes and a group of mixed tribes of the Sudan were investigated for the phenotypic distribution of red cell glucose-6-phosphate dehydrogenase by starch gel electrophoresis. In general, the tribes of Negroid origin had higher frequency of GdA compared to the tribes of Arab ancestry. However, the Nilotes showed a lower frequency of GdA allele and the Mahass tribe claiming an Arab origin had a higher frequency of GdA. The immigrant groups from the neighbouring African countries also had a higher frequency of GdA. GdB (Khartoum) was present in low frequencies in both the Arab and Negroid tribes. A great deal of intratribal variation in the phenotypic distribution of G6PD was observed in the Nuba and Gáali tribes from different localities.

Alleles↗

Quantitative expression of G6PD activity of different phenotypes of G6PD and haemoglobin in a Sudanese population.

597 unrelated persons, comprising of 401 males and 196 females, were investigated for glucose-6-phosphate dehydrogenase (G6PD) and haemoglobin phenotypes by starch gel electrophoresis. The levels of G6PD activity were assayed in order to study the quantitative expression of G6PD phenotypes and the influence of haemoglobin phenotypes on such expression. There was no significant different in the levels of G6PD activity in subjects with GdA or GdB. The mean levels of the enzyme activity were 165.5 +/- 33.7 and 164.8 +/- 33.8 IU/10(12) red cells in males and 159.3 +/- 27.8 and 163.4 +/- 33.5 IU/10(12) red cells in females, respectively. 14 subjects with Gd(+) "Khartoum" had significantly (p less than 0.001) higher level of enzyme activity with a mean above 200 IU/10(12) red cells. On the other hand, 20 subjects with GdB(int) (demonstrated by visual comparison of starch gel) showed significantly (p less than 0.001) lower levels of enzyme activity (107.6 +/- 23.5 IU/10(12) red cells). The heterozygotes GdAB also had slightly, but not significantly lower levels of enzyme activity than either GdA or GdB. The mean level of activity for GdAB was 140.1 +/- 29.4 IU/10(12) red cells.

Adolescent↗

Louse-borne relapsing fever in the Sudan. A historical review and a clinico-pathological study.

A small outbreak of louse-borne relapsing fever in Khartoum (May-June 1974) provided material for a clinico-pathological study. The history of the disease in the Sudan is reviewed and the clinical and laboratory findings in 32 patients are presented. Fever, headache, jaundice, epistaxis and hepatosplenomegaly were the commonest clinical findings; thrombocytopenia was detected in 93% of cases. Although elevated levels of fibrin degradation products were found in most patients, disseminated intravascular coagulation could not be diagnosed. Hepatocellular derangement was found in 68% of cases, while 78% had high blood urea. In five autopsied bodies there was bronchopneumonia, interstitial edema with focal myocardial fibrosis, hepatic necrosis, splenic infarcts, increase in size and cellularity of the glomeruli and brain edema and congestion. Intracranial haemorrhage was found in three of the autopsied cases.

Female↗

Haemoglobin and erythrocytic glucose-6-phosphate dehydrogenase variants among selected tribes in Western Saudi Arabia.

638 subjects from six tribes in Western Saudi Arabia were tested for haemoglobin and G-6-PD variants. In the bedouins of Harbi and Sahafi tribes there was no sickling but a low frequency of both G-6-PD deficiency (1.7%) and the Gd A+ variant (1.7%) in Harbi. In Mograbi and Mowallad tribes who immigrated recently from Africa, the frequency of Hb S was 4.1 and 3.5%, G-6-PD deficiency 7.5 and 8.5% and the Gd A+ variant 15.1 and 8.5% respectively, which are higher than in bedouins. In Ghamid tribe 4% had Hb S and there was a low frequency of both G-6-PD deficiency (4.8%) and Gd A+ variant (1.6%). However a new B slow variant is common among the Ghamid (16.1%). Hb S frequency in Zahran tribe was 2.6%. Six of the 12 g-6-PD deficient (screening) were found to be positive on starch gel electrophoresis.

Erythrocytes↗

A study of some genetic characteristics of the population of the Sudan.

300 random blood samples collected from residents of Khartoum, Sudan, were analysed for 5 blood group systems, 4 serum proteins, 9 red cell enzymes, abnormal haemoglobins and beta-thalassaemia. The results suggest varying degrees of admixture of the local tribes by migration from the surrounding regions. Two samples showed a probable new variant of glucose 6-phosphate dehydrogenase (? GdB Khartoum) with normal red cell activity. In spite of the presence of a high degree of consanguinity in the population, there was no significant deviation from Hardy-Weinberg equilibrium in any of the polymorphic systems.

Blood Group Antigens↗

Louse-borne relapsing fever: I. A clinical and laboratory study of 363 cases in the Sudan.

Louse-borne relapsing fever seems to have become endemic in the southern Sudan. The epidemic history of the disease in the Sudan is reviewed. We have studied 363 Sudanese patients involved in an outbreak of louse-borne relapsing fever in Khartoum (Sudan) between January and June 1974. 318 of the 363 patients were new immigrants from the soughern Sudan to Khartoum. The clinical presentation varied. The common clinical fetures of the disease were: fever (94%), headache (85%), hepatosplenomegaly (74%), body and joint pains (66%), abdominal pain and tenderness (63%), jaundice (46%) and epistaxis (40%). Thrombocytopenia was common. Biochemical evidence of hepatocellular and renal damage was present in most patients. The mortality rate was 5-5% with treatment. Post-mortem examination was performed on six cases. The organs predominantly involved were the liver, spleen, brain and lungs. The common causes of death were severe hepatic damage, lobar pneumonia, subarachnoid haemorrhage and splenic rupture.

Adolescent↗

Morphology of the spleen and lymph nodes in fatal visceral leishmaniasis.

Histological appearances of the spleen and lymph nodes were analysed in twenty fatal cases of human visceral leishmaniasis from Sudan. Marked atrophy of the splenic white pulp was associated with necrosis and fibrosis of thymus-dependent area, accumulation of parasite-containing histiocytes and plasma cell hyperplasia. Depletion of small lymphocytes in the paracortical areas of the lymph nodes was accomplained by proliferation of plasma cells and histiocytes in the paracortex. Depletion of small lymphocytes in thymus-dependent regions of lymph nodes and spleen is viewed as arising from immune suppression associated with antigen overloading or other factors, which may impair those aspects of lymphocyte-macrophage cooperation that are presumably necessary to kill the invading parasites.

Adolescent↗

The pathology of schistosomiasis in Sudan.

The pathology of schistosomiasis in an autopsy material consisting of medico-legal cases and unclaimed bodies in the Sudan is described. The limitations of this type of study are pointed out. S. mansoni-infection and S. haematobium-infection occurred with a frequency of 14.3 per cent and 4.5 per cent of autopsies respectively. There was a geographical difference in the severity of S. mansoni-infection in two endemic areas in the country; it was particularly severe in patients coming from Bor area in the Southern Sudan. In autopsies with S. mansomi-infection intestinal polyposis and cor pulmonale were rarely encountered. The distribution of eggs in the tissues, using digestion studies, and the relationship of tissue egg load to pathology are reported and discussed.

Adolescent↗