Rare CFTR mutation 1525-1G>A in a Pakistani patient.

Cystic fibrosis (CF) is rare in non-Caucasian populations, and in such populations little is known about the spectrum of mutations and polymorphisms in the cystic fibrosis transmembrane conductance (CFTR) gene. We report the detection of a very rare CFTR mutation 1525-1G>A in intron 9 in a 5-year-old Pakistani child with typical clinical features of CF. It remains to be seen whether mutation 1525-1G>A is characteristic of Pakistani ethnicity with CF or associated with severe phenotypic features.

Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).

Twenty-nine subjects (17 families) with cystic fibrosis belonging to the same Bedouin tribe were screened for cystic fibrosis transmembrane regulator gene mutations (CFTR). Homozygous I1234V mutation in exon 19 was identified in all families with a relatively high rate of consanguinity (96.6 per cent). The homozygous I1234V mutation tended to present with a variable degree of pulmonary disease, pancreatic insufficiency and electrolyte imbalance. Homozygous I1234V was found to be a common mutation in the studied Bedouin tribe in Qatar.

Clinical characteristics of respiratory syncytial virus infection in hospitalized healthy infants and young children in Qatar.

To evaluate seasonal trends, clinical profile, and outcome of disease in previously healthy infants and young children hospitalized for respiratory syncytial virus (RSV) infection at Hamad Medical Corporation in the state of Qatar, we reviewed the records of 257 children admitted between 1 January 1996 and 31 December 1998. RSV epidemics occurred yearly during the winter months with peak hospitalizations occuring between November and February. Of the 257 admissions, 160 (62.3 per cent) were male and 97 (37.7 per cent) female. The mean age of all children was 5.7 months (range, 10 days to 32 months). The most common admitting diagnoses were bronchiolitis (59.9 per cent), pneumonia (17.5 per cent), bronchiolitis with pneumonia (8.9 per cent), possible sepsis (7.8 per cent), asthma (4.7 per cent) and apnea (1.2 per cent). A family history of asthma was quite common (63.8 per cent), although no statistical significant difference was noted in complication or length of stay. Treatment was supportive, the majority of the patients received oxygen therapy in 77.8 per cent of cases, bronchodilators in 85.4 per cent, and antibiotics therapy in 49.4 per cent. The median duration of hospital stay was 6 days (range, 1 to 29 days). Of the 14 (5.4 per cent) patients requiring intensive care, four (1.6 per cent) needed mechanical ventilation. No deaths were reported, but subjects aged < or = 12 months had a significantly higher oxygen requirement, intensive care unit admission, bronchodilators and antibiotics therapy than those > 12 months old. Within 1-2 years after admission with RSV infection, 63 of the 257 patients attended for recurrent episodes of wheezy chest. These results indicate that, during the season of infection, RSV is an important pathogen in infants and young children in the state of Qatar, highlighting the need for development of effective vaccines to ameliorate the impact of annual RSV epidemics in infants and young children.

Cystic fibrosis in a large kindred family in Qatar.

We describe 45 patients with cystic fibrosis (CF), diagnosed between June 1987 and May 1999, seen at the Hamad Medical Corporation, Qatar in the Arabian Gulf. Twenty-six of 32 families in the study were related and belonged to the same Bedouin tribe. The parents of 98% of these cases were consanguineous. Metabolic alkalosis and/or hypo-electrolytaemia were found in a large proportion of infants with CF. Cystic fibrosis in Qatari children is phenotypically variable with mild to moderate respiratory symptoms, and none of them died during this study. Among the non-Arabic-Asian patients, pulmonary symptoms were more severe, Pseudomonas colonization was earlier, pancreatic insufficiency occurred in infancy and four died in early life.

Acute asthma: treatment and outcome of 2000 consecutive pediatric emergency room visits in Doha, Qatar.

The case files of 2000 asthma episodes seen in our pediatric emergency room (PER) over a 2-month period were reviewed. Patients included 1429 males and 571 females with 66.2% < 48 months old. More than 60% of patients had been symptomatic for <24 hr and 88.5% had tried inhaled beta2-agonist before coming to the PER. In the PER, 57% responded to a single salbutamol aerosol and 35.5% responded to a combination of 2-3 salbutamol, IV hydrocortisone, and aminophylline drip < or = 6 hr. Only 7.5% were admitted to the hospital. Of the admitted patients, 82% had been symptomatic for > 24 hr and 60.6% were <4 years old.

Childhood asthma in Qatar.

BACKGROUND: Asthma is one of the most important causes of morbidity in childhood. Significant differences in the prevalence of asthma have been reported in children from different countries. OBJECTIVE: Our objective was to study the profile of asthmatic children in Qatar and compare it with other countries. METHODS: The study consisted of our outpatient asthmatic cases. It consists of detailed clinical questionnaires, physical examinations, and laboratory evaluations. RESULTS: Four hundred fourteen children with asthma were reviewed. The ages of the patients ranged from 7 months to 12 years with a mean of 6.15 years. There were 135 girls (32.6%) and 279 boys (67.4%). Seventy percent of patients had their first episodes within the first 2 years of life. Viral respiratory infections were the most common precipitating factor (95.17%). Fumes were incriminated as a triggering factor in 36% of patients with Bokhour representing 54% of them. The majority of cases were moderate in severity (56.52%), while 27.78% were mild and 15.7% of cases were severe. Fifty percent of patients had been hospitalized at least once. Eighty-six percent had positive family histories of allergic diseases. Absolute eosinophil counts of more than 500 cells/mm3 were found in 36.62%. Total serum IgE was elevated for age in 61.59%. Positive skin tests to significant antigens were noted in 80.4% of cases. CONCLUSIONS: Our study describes the characteristic findings of asthma in Qatari children which are similar to reports from other developing countries except that our patients were younger in age of onset and Bokhour (an Arabian Gulf incense) was an important precipitating factor. It will help to improve understanding and management of asthma.

The occurrence of ataxia-telangiectasia and common variable immunodeficiency in siblings: case report.

Common variable immunodeficiency and ataxia-telangiectasia with immunodeficiency are both well recognized syndromes which occur in children. The aetiological factors responsible for both these conditions have yet to be defined clearly. The clinical and laboratory features in two siblings, one with common variable immunodeficiency and the other with ataxia-telangiectasia, are presented. This is the first report of these two entities occurring in siblings.

Home nebulizer therapy in asthmatics in Qatar.

We reviewed charts of 50 asthmatic children who were on home nebulizer therapy for treatment of their asthma over a 1-year period. Patients served as their own controls for comparison of the asthma-related variables between periods of 6 months before and 6 months after the initiation of home nebulizer treatment. There was a 74% and 70% reduction in the emergency room visits and hospitalizations, respectively, during the period when the patients were on home nebulizer therapy. We suggest that this form of therapy, if properly used in appropriately selected asthmatic children, will reduce the need for hospital care.

Recurrent wheezing in children with respiratory syncytial virus (RSV) bronchiolitis in Qatar.

Records of 70 infants admitted to Hamad General Hospital with RSV bronchiolitis and a similar number of controls were retrospectively reviewed. Two years after admission, 44% of the infants with RSV bronchiolitis developed recurrent wheezing compared with only 12.9% of controls (P = 0.001). A family history of atopy appeared not to be a significant predisposing factor for the occurrence of recurrent wheezing in post RSV bronchiolitis patients. These results are similar to those from similar studies in industrialized countries.

Four-year experience with bronchial asthma in a pediatric intensive care unit.

Charts of all children with severe acute asthma admitted to the Pediatric Intensive Care unit (PICU) of this hospital between January 1987 and December 1990 were reviewed retrospectively. There were 47 admissions for life threatening asthma to the PICU over this period, representing about 2% of all acute asthma admissions to our hospital. The mean duration of symptoms in these patients before admission was 54 hours. Only 55% of the PICU admissions had received bronchodilators before coming to our hospital emergency room from where they were admitted. From arterial blood gas analysis, 57% of the patients had hypercapnia (PaCO2 > 45 mmHg). All the patients received nebulized salbutamol frequently as well as intravenous aminophylline and hydrocortisone. Mechanical ventilation was used in only 8.5% of the patients. Only two patients developed pneumothorax, neither of whom had been mechanically ventilated, but they did not require surgical intervention for drainage. There was only one death in a patient who was known to have sickle cell anemia and developed sagittal sinus thrombosis. We conclude from our series that the mortality for children with life threatening asthma admitted to PICU is very low if bronchodilators and steroids are used optimally in their management, along with judicious selection of those requiring mechanical ventilation.

Intussusception in children under 2 years of age in the State of Qatar : analysis of 67 cases.

Intussusception is one of the leading causes of bowel obstruction in early infancy and childhood. From 1984-1989, 67 patients under 2 years of age with intussusception were diagnosed and treated in our institution. There were 48 boys and 19 girls ranging in age from 2 months to 2 years with a mean of 7.4 months. Presenting symptoms and signs included abdominal pain (96%), vomiting (93%), rectal bleeding (60%) and a palpable mass (67%). Symptoms and signs were present for less than 24 hours in about 80% of cases. Most of the intussusceptions were of the ileocolic type (75%). The overall success rate of hydrostatic barium enema reduction was 49%. The highest rate of reduction by enema was among patients between 9 and 16 months of age (83%). The success rate of barium enema reduction was negligible after 24 hours of cardinal symptoms. Five children underwent surgical exploration without contrast studies because of delayed presentation and signs of an acute abdomen. A pathological lead point was found in only four cases, the commonest being Meckel's diverticulum. The average length of hospitalization was 2.57 days after barium enema reduction and 7.55 days after surgical reduction. There were no deaths. There was no case of perforation during enema reduction. Three children had recurrence within 3 months of initial presentation. The best outcome is associated with early diagnosis and barium enema reduction, or selected surgical intervention when indicated.

Monozygotic twins concordant for Rubinstein-Taybi syndrome.

Monozygotic twin sisters from Qatar, concordant for the Rubinstein-Taybi syndrome, are described. Skeletal anomalies not previously seen in this syndrome are described. The mode of inheritance is reviewed.

Henoch-Schöenlein syndrome in Qatar: the effects of steroid therapy and paucity of renal involvement.

This is a retrospective study of 40 patients admitted to Hamad General Hospital in the state of Qatar between January 1983 and December 1987 with the diagnosis of Henoch-Schöenlein syndrome. Of the 40 patients, 25 were boys and 15 were girls, with a ratio of 1.6:1. Ages ranged from 2 years 3 months to 13 years, with a mean of 6 years. There were six episodes of recurrence in four patients. There was a clustering of cases in late summer and early winter. About half of the patients had a history of preceding upper respiratory infection. All of them had the typical skin rash. The percentages of joint, gastro-intestinal and renal manifestations were 80%, 65% and 17.39%, respectively. One patient had penile swelling which has not been reported before. Steroid therapy seemed to enhance early resolution of abdominal pain but did not affect the course of the syndrome. Sixty-seven per cent of the patients were followed up for from 4 weeks to 5 years, with a mean of 8 months. Only one patient with renal involvement continued to have proteinuria with microscopic haematuria and hypertension. The rest were normal within about 2 months. The remarkably low incidence of renal involvement in our study may be related to local variations in causative factors. Henoch-Schöenlein syndrome is a milder disease in Qatar than in other countries.

Vomiting as the main presenting symptom of acute asthma.

Vomiting as a dominant symptom in a patient with acute asthma is reported. The traditionally recognized triad of cough, tachypnea and wheezing were absent or trivial whenever this patient presented with persistent vomiting. A careful history, laboratory evaluation and a course of bronchodilators eventually ascertained that the episodes of vomiting were due to attacks of acute asthma. It is suggested that acute asthma be included in the differential diagnosis of recurrent and/or severe vomiting in children.

Hemoglobin D-beta (0) thalassemia. A case report and family study.

Findings are presented on a Pakistani family in Doha, Qatar with hemoglobin D-Los Angeles (alpha 2 beta 3 121 (glutamine----glycine) and thalassemia trait. The propositus, a child, has hemoglobin D-beta(0) thalassemia, and suffers from moderately severe hemolytic anemia. The father has beta-thalassemia trait, and the mother is heterozygous for hemoglobin D-Los Angeles. This, the eighth confirmed case in the medical literature, is reported to emphasize its clinical manifestations and genetic basis.

Primary empty sella syndrome with panhypopituitarism in a child.

A 10-year-old boy presented with marked growth retardation. He was found to have an empty sella demonstrated by CT and Metrizamide cisternography. Endocrinological investigation confirmed the diagnosis of panhypopituitarism. This is the first case reported in a twin and the fifth pediatric case with marked endocrine dysfunction reported in the literature.

The paralytic poliomyelitis epidemic of 1978 in Jordan: epidemiological implications.

Poliomyelitis is endemic in Jordan, but until 1978 there were no epidemics. In that year, 66 children were admitted to the Jordan University Hospital with a paralytic illness, compared with 13 in 1979 and 11 in 1980. The epidemic reached a peak in the summer and fall of 1978. While 54% of the patients had not received any vaccine, 19% had received 3 doses of oral poliovaccine; 82% of the cases were in children less than 2 years of age, and all belonged to the lower socioeconomic group. There were 28 deaths with complications of the disease.Poliovirus was isolated from 10 out of 14 rectal swab samples examined (9 with poliovirus 1, 1 with poliovirus 2), and from 4 out of 13 throat specimens from the same patients. It is concluded that as a result of improving living standards in Jordan and neighbouring countries, more epidemics may occur unless immunization efforts against poliomyelitis are intensified.