ABSTRACT
Two unrelated mildly retarded males with inversions of the X chromosome and non-specific mental retardation (MRX) are described. Case 1 has a pericentric inversion 46,Y,inv(X) (p11.1q13.1) and case 2 a paracentric inversion 46,Y,inv(X) (q13.1q28). Both male patients have severe learning difficulties. The same chromosomal abnormalities were found in their mothers who are intellectually normal. Fluorescence in situ hybridisation mapping showed a common area of breakage of each of the inverted chromosomes in Xq13.1 near DXS131 and DXS162. A detailed long range restriction map of the breakpoint region was constructed using YAC, PAC, and cosmid clones. We show that the two inverted chromosomes break within a short 250 kb region. Moreover, a group of ESTs corresponding to an as yet uncharacterised gene was mapped to the same critical interval. We hypothesise that the common inversion breakpoint region of the two cases in Xq13.1 may contain a new MRX gene.
Subject(s)
Chromosome Inversion , Intellectual Disability/genetics , Physical Chromosome Mapping , Transcription, Genetic , X Chromosome , Blotting, Northern , Child , Expressed Sequence Tags , Genetic Linkage , Humans , In Situ Hybridization, Fluorescence , Liver/metabolism , Male , Models, Genetic , Mothers , Tissue DistributionABSTRACT
OBJECTIVE: To describe a case of Haemophilus influenzae type f (Hif) meningitis occurring in the H. influenzae type b (Hib) vaccine era. RESULTS: Successful treatment of a case of Hif meningitis in a previously vaccinated 3-year-old girl is described. The outcome was complicated by deafness. No underlying immunosuppression was demonstrated. CONCLUSIONS: Despite the great success of Hib vaccines in reducing invasive disease due to H. influenzae, cases of H. influenzae meningitis continue to occur, caused by less common encapsulated serotypes. Whether there will be an increase in the number of these cases in the vaccine era is unknown and infection due to non-b serotypes requires close monitoring.
Subject(s)
Haemophilus Vaccines , Haemophilus influenzae/classification , Meningitis, Haemophilus/microbiology , Child, Preschool , Female , Humans , SerotypingSubject(s)
Antivenins/administration & dosage , Spider Bites/therapy , Child , Female , Humans , Spider VenomsABSTRACT
Six patients on steroid replacement therapy for congenital adrenal hyperplasia provided capillary blood samples collected at 0800, 1200, 1700, and 2200 h, on to filter paper for 17-hydroxyprogesterone analysis. There was a strong correlation between 17-hydroxyprogesterone day profiles and height velocity over a 4 year period of study. Steroid over-replacement, identified by significantly decreased height velocity (Standard Deviation Score [SDS] 1.92), caused suppression of 17-hydroxyprogesterone concentrations to below 10 nmol/L throughout the day. Near average height velocity (Standard Deviation Score 0.245) was accompanied by suppression of 17-hydroxyprogesterone concentrations below 40 nmol/L but with significant diurnal variation. Under-replacement with rapid height velocity and bone maturation was accompanied by non-suppression of 17-hydroxyprogesterone concentrations (i.e. > 40 nmol/L). These results suggest that serial blood spot 17-hydroxyprogesterone measurements are a convenient and helpful supplement to measurements of height velocity and bone age maturation to monitor steroid replacement therapy in congenital adrenal hyperplasia. These measurements may be useful particularly in differentiating between over-replacement and appropriate replacement, and should allow adjustments in dose before abnormal growth patterns are established.
Subject(s)
Adrenal Hyperplasia, Congenital/blood , Adrenal Hyperplasia, Congenital/physiopathology , Body Height , Hydroxyprogesterones/blood , 17-alpha-Hydroxyprogesterone , Adrenal Hyperplasia, Congenital/drug therapy , Age Determination by Skeleton , Body Height/drug effects , Child , Child, Preschool , Female , Growth/drug effects , Humans , Hydrocortisone/pharmacology , Hydrocortisone/therapeutic use , Male , Retrospective StudiesABSTRACT
The efficacy of propafenone hydrochloride, a new antiarrhythmic agent, was evaluated in the treatment of chronic stable ventricular arrhythmias. Twenty-five patients who had suffered a myocardial infarction three months or longer before the trial were studied. All exhibited a minimum mean frequency of 30 ventricular ectopic beats per hour over at least two 24-hour Holter monitoring periods with the last recorded tape serving as a control. The mean decrease in ventricular ectopic activity with propafenone was 65.62 percent (p = less than 0.001). Side effects were infrequent, minimal, and of no clinical consequence. Oral propafenone was found to be an effective drug for reducing the level of chronic ventricular ectopy, as reflected by a short-term trial.
