ABSTRACT
OBJECTIVE: To describe the presentation and genetic transmission of ciliary dyskinesia syndrome associated with hydrocephalus and mental retardation in 3 generations of a family. PATIENTS AND METHODS: A large Jordanian family included 9 individuals in 3 generations with recurrent pulmonary infections; 4 male siblings have been diagnosed as having mental retardation, and a maternal uncle was believed to have been similarly affected. Chromosome analysis of the family showed a normal karyotype. RESULTS: Electron microscopy of the nasal cilia from 3 affected siblings showed features of primary ciliary dyskinesia. Computed tomographic scans of the brains of all 4 affected siblings showed hydrocephalus. CONCLUSIONS: The recurrent pulmonary infections and hydrocephalus in this large Jordanian family are likely related to ciliary dyskinesia, which appears to follow an autosomal recessive mode of inheritance. The unusual presentation of ciliary dyskinesia, hydrocephalus, and mental retardation may be due to a new genetic mutation.
Subject(s)
Abnormalities, Multiple/genetics , Ciliary Motility Disorders/genetics , Hydrocephalus/genetics , Intellectual Disability/genetics , Pedigree , Abnormalities, Multiple/diagnosis , Adult , Bronchiectasis/genetics , Ciliary Motility Disorders/complications , Ciliary Motility Disorders/diagnosis , Female , Genes, Recessive/genetics , Genotype , Haplotypes , Humans , Hydrocephalus/complications , Hydrocephalus/diagnosis , Infections/genetics , Intellectual Disability/complications , Intellectual Disability/diagnosis , Intelligence , Jordan , Karyotyping , Lod Score , Lung Diseases/genetics , Male , Microscopy, Electron , Mutation/genetics , Recurrence , Tomography, X-Ray ComputedABSTRACT
Serum testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH) and prolactin (PRL) responses to exposure to sea-level altitude (LA) were examined in 13 eugonadal males, age 21-22 yr, 3 and 5 days after residing at LA and on the second day of return to basal altitude 90 days later. After 3 days at their respective residence altitude, there was elevation in LH (p less than 0.05) and depression in testosterone levels (p less than 0.05), with similar results on day 5. These effects were all of transient nature, LH and testosterone concentrations returned to their basal levels on second day of the return to basal altitude. The FSH and PRL levels did not show any significant change during the stay at LA or after return to basal altitude. The observations suggest that exposure to LA is associated with increase in plasma levels of LH and decrease in testosterone. The decreased levels of testosterone could be due to a reduction in the sensitivity of the testis to LH, or due to inhibition of steroidogenesis in the testis.
Subject(s)
Altitude , Follicle Stimulating Hormone/blood , Luteinizing Hormone/blood , Prolactin/blood , Testosterone/blood , Adult , Humans , MaleABSTRACT
Platelet count, platelet aggregation, factor VIII VWF, Antithrombin III, fibrinogen and protein C were studied in 13 male volunteers after 3, 5, and 90 d of living at 300 m below sea level. There was no significant change in platelet count, platelet aggregation, factor VIII VWF, or Antithrombin III. There was a significant increase of fibrinogen (p = 0.002) and protein C (p = less than 0.0001) after 90 d stay at 300 m below sea level.
Subject(s)
Altitude , Blood Coagulation , Adult , Blood Coagulation/drug effects , Fibrinogen/metabolism , Humans , Jordan , Male , Platelet Aggregation/drug effects , Protein C/metabolism , Reference ValuesABSTRACT
1. The effect of the therapeutic doses of cimetidine (400 mg/twice daily) on theophylline metabolism in Jordanian volunteers was studied. 2. The administration of the above therapeutic cimetidine dose did not alter theophylline clearance and elimination half-life. 3. Cimetidine administration also failed to alter the elimination of theophylline metabolites in urine.
Subject(s)
Cimetidine/pharmacology , Theophylline/pharmacokinetics , Adult , Drug Interactions , Half-Life , Humans , Male , Metabolic Clearance Rate/drug effectsABSTRACT
A case report is given of a patient with a 3-year history of recurrent attacks of dry cough and dyspnoea associated with cyanosis but with no demonstrable organic cause. The patient's condition responded favourably to a combined regimen of antidepressant chemotherapy and supportive psychotherapy. The authors emphasise the importance of the recognition and proper treatment of psychological disorders associated with such forms of respiratory distress.
Subject(s)
Antidepressive Agents/therapeutic use , Cough/therapy , Dyspnea/therapy , Psychotherapy , Adult , Combined Modality Therapy , Cough/etiology , Dyspnea/etiology , Humans , MaleABSTRACT
The Dead Sea area, which is 350 m below sea level, is by far the lowest region in the world inhabited by permanent population. To assess the effect of that low altitude on pulmonary function, forced vital capacity (FVC), forced expiratory volume in one second (FEV1), peak expiratory flow rate (PEFR) and forced mid-expiratory flow rate between 25% and 75% of FVC (FMF 25-75%) were determined for 195 boys and 149 girls living in the Dead Sea region. These were compared with the same function values of 204 boys and 224 girls living in Amman Area (774 meters above sea level). The data were statistically analysed, considering a probability of error level of 1% as significant. When the data for boys were considered, the arithmetic mean test showed significant difference for FVC only while the variance test showed significance in the FVC, FEV1, and FMF (25-75%), the values of the Dead Sea area subjects being lower. On the other hand when the data for girls were analysed there were no statistically significant differences between the two groups, although there was a slight apparent difference in all values, with the Dead Sea area girls having higher figures. These data suggest that, although altitude may play a role in modifying ventilatory function, other factors should be considered. In particular the inhabitants and their children of the Dead Sea area are very actively involved in agriculture while the children of Amman have few exercise facilities available.
Subject(s)
Altitude , Respiratory Function Tests , Adolescent , Body Height , Body Weight , Child , Female , Forced Expiratory Volume , Humans , Israel , Jordan , Male , Maximal Midexpiratory Flow Rate , Peak Expiratory Flow Rate , Vital CapacitySubject(s)
Lung/physiology , Adolescent , Age Factors , Body Height , Body Weight , Child , Female , Forced Expiratory Volume , Humans , Jordan , Male , Reference Values , Respiratory Function Tests , Sex FactorsABSTRACT
Eleven patients with intrinsic asthma and aspirin sensitivity were challenged with intravenous hydrocortisone sodium succinate (Solu-Cortef; the Upjohn Co., Kalamazoo, Mich.). Three patients showed definite evidence of bronchospasm, which was easily reversed by subcutaneous administration of epinephrine. Evidence is presented which suggests that this reaction was not caused by other constituents of the preparation but rather was caused by Solu-Cortef alone. No atopy was demonstrated in the group as a whole, and the reaction observed was probably nonallergic in nature. We suggest the replacement of intravenous hydrocortisone sodium succinate with dexamethasone in the treatment of such a population.
Subject(s)
Aspirin/adverse effects , Asthma/chemically induced , Bronchial Spasm/chemically induced , Hydrocortisone/analogs & derivatives , Adult , Dexamethasone/pharmacology , Female , Forced Expiratory Volume , Humans , Hydrocortisone/adverse effects , Injections, Intravenous , Male , Middle Aged , Vital CapacityABSTRACT
A sample of 144 male, and 117 female healthy adults was selected to determine the normal ventilatory functions for Jordanians. Forced vital capacity, FEV1, and FMF 25-75% were determined using a dry bellows spirometer. Linear regression curves and nomograms were constructed for predicted values. Jordanian values for FVC and FEV1 were similar to those of Caucasians living in the western hemisphere.
Subject(s)
Respiratory Function Tests , Adult , Age Factors , Body Height , Female , Forced Expiratory Volume , Humans , Jordan , Male , Maximal Midexpiratory Flow Rate , Middle Aged , Reference Values , Sex Factors , Vital CapacityABSTRACT
Sixteen cases of Guillain-Barré syndrome occurred in the third week of a diarrhoea epidemic caused by water pollution in EL-Sult, Jordan. Of 30 000 people exposed to polluted water, 5000 developed diarrhoea, 74 typhoid, and 30 infectious hepatitis. Thirteen of the 16 patients with Guillain-Barré syndrome had been mildly affected by diarrhoea 8-24 days before the onset of peripheral neuropathy. Paralysis progressed rapidly, reaching a peak in one to five days, and recovery began three to seven days after the start of the most severe symptoms. All but four patients had recovered completely after one year. Rapid progress of paralysis and a delayed interval between maximum weakness and start of recovery were both associated with poor prognosis.
