Biomedical subjects

A Rajab

Publications and source records attributed to A Rajab.

26 records · Page 2Linked to original sources

PubMed1996

Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome.

We evaluated growth parameters and hypothalamic-pituitary-gonadal and growth functions in five children with Bardet-Biedl syndrome (BBS). Three of the five children had stature below the fifth percentile for age. Their growth hormone (GH) response to provocation was defective, and computed tomographic (CT) scanning revealed empty sellae in all of them. All the children were obese (body mass index [BMI] > 95th percentile for age). Three had hypercholesterolemia. Their basal serum testosterone concentration and testosterone response to 3-day human chorionic gonadotropin (HCG) stimulation were significantly lower than the levels in 12 age-matched obese normal children. Testosterone secretion failed to respond to HCG therapy for 4 weeks. Both basal gonadotropin levels (luteinizing hormone [LH] and follicle-stimulating hormone [FSH]) and gonadotropin responses to LH-releasing hormone (LHRH) stimulation were normal and did not differ among the two study groups. It appears that primary hypogonadism is a cardinal feature of BBS, and it may be accompanied by hypothalamic and pituitary abnormalities.

Adolescent↗

PubMed1996

The frequency of posterior urethral valves in Oman.

OBJECTIVE: To ascertain the frequency of posterior urethral valves (PUV) in Oman, using hospital records. MATERIALS AND METHODS: The resident population of Oman is 1.5 million and all complex paediatric surgical cases are referred to a single unit in the capital city of Muscat. A register of patients has been kept in that unit since 1988. Hospital case-records were reviewed to determine associated abnormalities, date and place of birth, tribal origin and, from further interviews, the family pedigree and degree of consanguinity. RESULTS: This retrospective survey identified 56 Omani children born between 1989 and 1994 who were treated in the Paediatric Surgery Department at the Royal Hospital, Muscat for congenital PUV. The calculated incidence was 1 in 2375 newborn males, which is 2-4 times higher than that previously reported in other populations. There was no relation to the estimated month of conception and therefore environmental hyperthermia due to the extreme ambient temperature does not seems not to be a causative factor. There was consanguinity in 40 of 46 cases (87%) where a complete family history was available. Parents were first cousins in 54% of cases, compared with the background rate of 24% in over 6000 families interviewed in the antenatal clinics at six hospitals in Oman. There was also a concentration of PUV within specific tribes. About one-third of the cases also had associated congenital abnormalities, the most frequent of which were genitourinary (17%), but gastrointestinal (9%) and spinal (7%) defects were also observed. CONCLUSION: The frequency of PUV in newborn Omani males was 1 in 2375, which is considerably higher than any previously reported series. This was associated with an increased rate of consanguinity, but there was no clear pattern of inheritance.

Child↗

PubMed1996

Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment.

Short stature is a characteristic feature of pycnodysostosis. We report defective growth hormone secretion in response to provocation and low insulin-like growth factor-I (IGF-I) concentration in five out of six patients with pycnodysostosis. Physiological replacement with growth hormone increased IGF-I concentration and improved linear growth in these children.

Adult↗

PubMed1995

Growth hormone deficiency and empty sella in DIDMOAD syndrome: an endocrine study.

Two girls with DIDMOAD syndrome are presented. One also had severe megaloblastic-sideroblastic anaemia and the other several neurological manifestations. Both were short with defective growth hormone secretion. Computed tomography revealed empty sella in both girls; one had widespread atrophic cortical and cerebellar changes. High doses of thiamine improved the anaemia in the first case, increased C peptide secretion in both, but had no effect on the neurological abnormalities.

Anemia, Sideroblastic↗

PubMed1990

Survey of infection in babies at the Khoula Hospital, Oman.

A 12-month prospective study of infection was carried out in the special care baby unit (SCBU), Khoula Hospital, Muscat, Sultanate of Oman. During this period, 8720 babies were born in the hospital and 1265 were admitted to the SCBU. Altogether, 490 babies were of less than 36 weeks' gestation. A total of 190 babies (160 born in the hospital, 30 born before admission) satisfied the criteria for infection. The most common clinical presentation was pneumonia. There was one outbreak of iatrogenic infection. Infection was confirmed microbiologically in 76 of 190 symptomatic babies. Staphylococcus aureus was the most common pathogen and was isolated from 48 infected babies (25%). Beta-haemolytic streptococci were isolated from superficial sites only in eight babies. Klebsiella spp were the commonest enteric bacteria isolated, but they were rarely associated with infection. Of 46 babies who had bacteraemia, 9 also had meningitis. Nine of the 46 babies died, including 6 of the 9 who had meningitis. The mortality following Gram-negative infection was higher than that following Gram-positive infection. Fourteen per cent of infected babies born in hospital and 27% of those born before admission died. A high proportion of bacteria isolated were resistant to ampicillin and/or gentamicin. Results suggest that alternative antibiotics would be more appropriate for initial treatment. The study shows that in developing countries, unsophisticated research, using basic facilities, can be of value in identifying the problems of infection and in recognizing possible solutions to them.

Bacterial Infections↗

PubMed1985

Absorption of subcutaneously administered regular human and porcine insulin in different concentrations.

The influence of the insulin concentration on its absorption from the subcutaneous tissues was studied by direct measurement of the appearance of insulin in the circulation after its subcutaneous administration. 10 units of regular insulin of semisynthetic human and porcine origin in strength of 15 units/ml, 40 units/ml, and 100/units/ml were administered as bolus to 9 healthy male volunteers, using switched-off, manually handled insulin pumps. Insulinaemia rose significantly higher (p less than 0.05) and insulin levels peaked earlier after the delivery of the 15 units/ml insulin solutions compared to the 100 units/ml insulin solutions. These findings might be of interest for type-I diabetic patients using insulin pumps that are to be loaded with regular insulin in varying concentrations.

Absorption↗

PubMedDate not supplied

Defective growth hormone (GH) secretion and short-term treatment in Noonan syndrome.

Auxological and endocrine data from 12 prepubertal children (3 males, 9 females) with Noonan syndrome (NS) were compared with those of 15 children with constitutional short stature (CSS), 20 children with partial GH deficiency (GHD), and 6 children with Turner syndrome (TS). Four children with NS were treated with human growth hormone (hGH) (n = 4) (25 units/m2 week, divided on daily s.c. doses). In children with NS, the peak serum GH response to clonidine (5.4 +/- 2.7 ug/L) and glucagon (7.4 +/- 3.4 ug/L) were significantly lower than those for children with CSS (14.8 +/- 3.4 and 12.8 +/- 2.8 ug/L respectively). Nine out of the 12 (75%) children with NS did not mount normal GH peak (10 ug/L or more) after provocation. The 12-h integrated GH secretion in the 3 children with NS who had normal GH response to provocation (2.7 +/- 0.7 ug/L) was markedly lower compared to that for children with CSS (6.7 +/- 1.2 ug/L). The serum insulin-like growth factor-1 (IGF-I) concentrations were lower in children with NS (67 +/- 32 ng/ml) vs CSS (165 +/- 35 ng/ml), but not different from those for GHD children (59 +/- 33 ng/ml). In 4 children with NS, hGH therapy for a year increased height growth velocity from 4.1 +/- 0.3 cm/yr to 7.4 +/- 0.6 cm/yr and height standard deviation score (Ht SDS) from -2.2 +/- 0.6 to -1.45 +/- 0.3. This growth acceleration was accompanied by an increase in IGF-I concentration (from 52 +/- 21 ng/ml to 89 +/- 25 ng/ml). In summary, these results prove a defect of the GH secretion in children with NS and suggest that GH therapy has an important role in the management of their short stature.

Child↗

PubMedDate not supplied

A study of consanguinity in the Sultanate of Oman.

Omani society has a long tradition of consanguinity, which goes back to pre-Islamic times. The aim of the present study was to determine the prevalence of consanguineous marriage and the mean coefficient of inbreeding in Oman. Consanguinity rates among 60,635 couples (20.8% of the national population of childbearing age) were determined on the basis of a questionnaire in major delivery units. In this large survey, which included all sections of the community, 24.1% of marriages were reported between first cousins and 11.8% of marriages were between second cousins. In addition, a further 20.4% of marriages were contracted within specific tribal groupings. Because of the strictly endogamous nature of the tribal groups in Oman, all marriages would be expected to be consanguineous to some degree, albeit at a level beyond that of second cousins (F < or = 0.0156). To obtain a more detailed picture of the patterns of consanguinity, and to assess the validity of the questionnaire-based study, 500 pedigrees were investigated in detail. The mean coefficient of inbreeding (alpha) in these pedigrees was 0.0204, compared with 0.0198 in the larger survey, suggesting that the data were broadly comparable and confirming the high degree of consanguinity in the population of Oman.

Consanguinity↗