X-linked myotubular myopathy with probable germline mosaicism.

X-linked myotubular myopathy is a disorder characterized by severe neonatal hypotonia and respiratory insufficiency. The mutation of MTMI gene results in a defective production of myotubularin, which is responsible for the maturational arrest of muscle development. An identical mutation in the carrier mother and the diseased child establishes the inheritance. We report the disease in a neonate with a mutation on exon 6 of the MTMI gene. Surprisingly, the mother was healthy and did not carry this mutation, she is likely to have germline mosaicism.

Brucellosis in children of Dhofar Region, Oman.

OBJECTIVE: To study the epidemiological and clinical pattern of brucellosis in children of Dhofar and to ascertain the efficacy of a pre-determined antibiotic regimen to treat the disease. METHODS: The study was hospital based and was carried out prospectively for 3 years. All cases diagnosed to have brucellosis on clinical and serological basis were entered into the study. The epidemiological background and clinical presentations were analyzed and the clinical response to a combination of oral rifampicin and co-trimoxazole was evaluated. RESULTS: Three hundred and seventy five cases of brucellosis were eligible for the study. Ingestion of raw milk and its products were responsible for causation of the disease in 63% of cases. Eighty three per cent had direct contact with animals mainly cattle. A minority of 4.5% denied ingestion of raw milk or coming into direct contact with animals. Fever was the most common presenting feature at 91%. We identified 2 distinct groups of presentation: Seventy per cent of those who presented with arthritis belonged to the older age group (7.34 years, standard deviation 2.64). They did not have a systemic illness. The younger age group presented with severe systemic illness associated with severe leucopenia and thrombocytopenia. The clinical response to the combination of rifampicin and co-trimoxazole was satisfactory in 90% of patients and 98% of brucella species isolated from the blood of patients were sensitive to both antibiotics used. CONCLUSION: Ingestion of infected milk and contact with infected animals are the main causes of human brucellosis, although aerial transmission from contaminated environmental soil could not be excluded. The main clinical presentation of brucellosis in children is fever but the skeletal manifestations of the disease are significant. The hematological manifestations of the disease in endemic areas deserve special attention. The combination of oral rifampicin and co-trimoxazole for 6 weeks is adequate to treat most cases of brucellosis in children.

Fatty acid composition of the milk of well-nourished Sudanese women.

The fatty acid (FA) composition of samples of breast milk obtained from well-nourished Sudanese women was determined by capillary gas chromatography. Saturated fatty acids (SFA) constituted 46%, monoenoic acids (MONOENE) 33% and polyunsaturated fatty acids (PUFA) accounted for 21% of total fatty acids. The mean value (18.28%) of the essential fatty acid linoleic acid was comparable to the levels reported for well-nourished mothers from industrialised countries. The proportions of fatty acids synthesised de novo in the mammary gland (10:0, 12:0, 14:0) were less than expected from published studies of mothers consuming low fat diet averaging 17.4%. The amount of 22:6 n-3 which is synthesised from 18:3 n-3 and also taken up by consumption of fish were found to be low. The possible nutritional implications of the low n-3 fatty acids for the infants should therefore be investigated.

Serotherapy in the management of scorpion sting in children in Saudi Arabia.

A total of 780 children with scorpion stings were admitted to a referral hospital in Saudi Arabia over a 7-year period. A similar number was managed in the outpatient department. The mortality was 4.8% initially, but no death occurred in the last 2 years of the study period. The reduction in mortality is attributed to the use of antivenom and improvement in case management.

Issues in management of scorpion sting in children.

All children admitted to Madina Maternity and Children's Hospital, Saudi Arabia, in 1989 because of scorpion stings (primarily Leiurus quinquestriatus) were studied. Of 96 children studied, 20 suffered either shock, pulmonary oedema or both. These 20 shared characteristic clinical features such as vomiting, priapism and failure to maintain normal temperature and/or blood pressure. The management protocol emphasized fluid restriction and the i.v. administration of venom antitoxin. Doubling the recommended dose did not improve the outcome. Two children died and the rest recovered.

Hematological and biochemical findings in scorpion stung children.

Scorpion sting is a common pediatric problem in the region of El Madina El Munawara, Saudi Arabia. The prevalent species are Leiurus quinquestriatus and Androctonus crassicauda. The biochemical and hematological profiles of 96 children admitted to the hospital during one year with scorpion stings were analyzed. No hematological problem was encountered. In some patients hypocalcemia was encountered but no other biochemical disturbance was confirmed.

Meningitis in children of ElMadina ElMunawara.

The medical records of 122 patients with meningitis admitted during one year reviewed. Cerebrospinal fluid (CSF) culture confirmed bacterial meningitis in 59; of the remaining 63, 35 were partially treated bacterial, 25 were viral, and three were tuberculous meningitis. Eighty-two patients (65%) were Saudi and most were younger than 5 years. Hemophilus influenzae was the most common pathogen isolated in patients younger than one year, and Neisseria meningiditis was the most common organism identified overall, especially in cases occurring during the Haj. CSF culture and the latex agglutation test were the most reliable in confirming diagnosis.

Scorpion sting: a management problem.

Admissions for scorpion sting in 1 year and deaths resulting from scorpion sting over 3 years were analysed. Features that indicated the severity of the clinical condition were identified. Pulmonary oedema and shock were the usual causes of death. Poor management of fluid therapy was responsible for the frequently unsatisfactory resolution of envenoming, especially when purified human plasma was used. The role of the scorpion antivenom used is questioned and controversy regarding the most appropriate sedative to use in the management of scorpion sting is still not resolved. An in-depth study of these management issues is urgently required.

Vitamin E status in Sudanese children with protein-energy malnutrition.

Total tocopherols and alpha-tocopherols were estimated in the plasma of children with severe malnutrition (14 marasmus; 11 marasmic kwashiorkor; five kwashiorkor) and related to the total plasma lipids and different plasma lipid classes. If the mere plasma concentrations were taken as an index of the vitamin E status, five children with marasmus, five children with marasmic kwashiorkor, and two children with kwashiorkor would have been regarded as deficient (less than 500 micrograms/dl). However, if total tocopherols and alpha-tocopherols were related to the total plasma lipids, all malnourished children--except one--showed values within the limits found in healthy American children. The study shows that low tocopherol/lipid ratios are not a constant feature in severely malnourished children.

Plasma retinol and tocopherols of breast-feeding Sudanese women.

The status of vitamin A and vitamin E has been evaluated in 69 well-nourished breast-feeding Sudanese women of two villages of the irrigated Gezira area. All were consuming local Sudanese food. Plasma retinol, alpha-tocopherol, and total tocopherol were estimated by HPLC. Tocopherol values have been related to total plasma lipids, cholesterol and phospholipids. The plasma retinol concentrations ranged between 29.19-141.37 micrograms/dl (mean 63.01 micrograms/dl). All values are well above 20 micrograms/dl, the lower cut-off point of normal, and reveal a good vitamin A status. The ratio of total tocopherol/total lipids (mg/g) was with 1.35-2.72 far above the lowest normal ratio of 0.60. This means an excellent vitamin E status. Neither the retinol nor the tocopherol values showed a correlation to parity or duration of breast-feeding.

Selenium status in Sudanese children with protein-calorie malnutrition.

In 68 Sudanese children with severe protein-energy malnutrition, age 1-4 years, the selenium status was investigated and the results were compared with those of healthy Sudanese and German children. The median selenium content in plasma of healthy Sudanese children (x = 59 micrograms/L) and with those of marasmus (x = 57 micrograms/L) were found to be in the same range. It was lower than in healthy German children (x = 82 micrograms/L). Patients with marasmic kwashiorkor exhibited still lower values (x = 42 micrograms/L. Within each group of malnourished children (marasmus, marasmic kwashiorkor, kwashiorkor) there were patients with low and with "normal" selenium values (taking the values of healthy German children as normal). Hair selenium values were not different between marasmic Sudanese children and healthy German children, probably due to reduced hair growth in malnourished children. Plasma glutathione peroxidase activity was reduced concomitantly with plasma selenium in the patients with protein-calorie malnutrition. There was a good correlation between plasma selenium and plasma glutathione peroxidase activity. A follow-up study showed that plasma selenium decreased during rehabilitation in those patients who had a "normal" value before treatment. This is probably due to the low selenium content of the two dietary formulae used, which contained 18 and 25 micrograms/L Se of formula,. It remains questionable whether the low selenium states and low selenium intake exhibit a healthy risk inhibiting further rehabilitation of the patients with severe protein-calorie malnutrition.

Plasma fatty acid composition of breast-feeding Sudanese women.

The status of essential fatty acids has been evaluated in 75 well-nourished Sudanese women of two villages of the irrigated Gezira area. All were consuming local Sudanese food. The fatty acid composition of the plasma cholesterolester and phospholipid fractions was estimated by capillary gas chromatography. Compared to values published from healthy American controls (Holman et al., 1979) their values of linoleic acid, dihomo-gamma-linolenic acid, and arachidonic acid were adequate. Eicosapentaenoic acid and docosahexaenoic acid were found to be lower. Trans fatty acids were very low. With increasing levels of linoleic acid in the phospholipid fraction the arachidonic acid levels decreased, thus showing a regulation of the phospholipid arachidonic acid content. The ratio linoleic acid/dihomo-gamma-linolenic acid, reflecting the delta 6-desaturation and the following elongation step, increased with rising linoleic acid values.

A combined course of primary health care practice and family medicine at the University of Gezira.

The community-based course presented is a longitudinal course running through four semesters in the Faculty of Medicine, University of Gezira, Sudan. Students combine their regular work in primary health care centres with attachments to a number of families in Wad Medani town. They continue to visit these families regularly throughout their entire medical course with the aim of studying them and helping them with some of their medical and psychosocial problems.