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SCAD is a rare aetiology of MI; risk factors and outcomes are illustrated in the current study. The puerperium is an important period for the development of pregnancy-related SCAD. Careful evaluation of pregnant and postpartum women with chest pain is warranted, especially if these risk factors are identified.

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Nineteen survivors of congenital diaphragmatic hernia repair were compared with age and sex matched control children six to 11 years after repair. All subjects were examined clinically and underwent lung function testing. The patients also had individual lung volumes assessed radiographically and had radionuclide (krypton-81m, technetium99m macroaggregates) ventilation-perfusion (V/4) lung scans. Four patients had pectus excavatum and two had mild scoliosis. Spirometric measurements were lower in the patients than in the control subjects but only the differences in peak expiratory flow and flow at 50% of expired vital capacity were significant. The radiographic left lung volumes in patients surviving left diaphragmatic repair were larger than expected at 49-3% (SD 2%), suggesting alveolar overdistension. V/I scans showed a mismatch in the ipsilateral lung, mean 2 (40% (7%)) being significantly lower than mean V (47% (6%)). In seven patients who had required ventilation for four days or more perfusion to the ipsilateral lung was significantly lower (34% (6%)) than values for the 12 patients ventilated for less than four days (43% (6%)). Survivors of right diaphragmatic repair had a better outcome in terms of relative radiographic lung volumes and V/0 distribution. More severely affected children are now surviving repair of congenital diaphragmatic herniation, with residual pulmonary abnormalities that could produce functional impairment in adult life. MethodsWe approached patients who had been operated on in this hospital during 1976-81. Sixty such patients, aged 6-11 years, were identified. A letter explaining the study and asking if they would take part was sent to their parents or guardians. Of the 60 families contacted, only 22 agreed to take part; 16 had moved house with no forwarding address, three refused to take part, and no reply was obtained from 19. Of those agreeing to take part, three were subsequently excluded because of neurodevelopmental delay (two) and because the child was unable to attend on the allotted day (one). The children who attended were compared with non-attenders for age at presentation, length of postoperative ventilation, and side of hernia (to determine whether they were typical of the whole group). There was little difference between those studied and those not studied for presentation before 24 hours of age (72% versus 77%), requirement for more than four days' ventilation (37% versus 36%), and percentage with a left sided hernia (84% versus 82%). The study was approved by the hospital ethical committee and written parental consent was obtained. The parents were asked to approach a friend of the patient, of the same sex and similar age and height, to act as a control for the physical examination and lung function tests. The median age of the patients was seven years and eight months (range six years one month-I 1 years one month) and of the controls seven years four months (range five years six months-l1 years). The height of patients and control subjects did not differ ...

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BackgroundThe objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region.MethodsDiagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities. Patients were screened for the common S135L and Q188R transferase gene mutations, using PCR-based assays. Screening for the S135L mutation in black newborns was used to estimate the carrier rate for galactosemia in black South Africans.ResultsA positive diagnosis of galactosemia was made in 17 patients between the years 1980 to 2001. All had very low or absent galactose-1-phosphate uridyltransferase (GALT) activity, and normal galactokinase levels. The mean age at diagnosis was 5.1 months (range 4 days to 6.5 months). A review of 9 patients showed that hepatomegaly (9/9), and splenomegaly, failure to thrive, developmental delay, bilateral cataracts (6/9) were the most frequent features at diagnosis. Six had conjugated hyperbilirubinemia. Four experienced invasive E. coli infection before diagnosis. Ten patients were submitted to DNA analysis. All 4 black patients and 2 of mixed extraction were homozygous for the S135L allele, while all 3 white patients were homozygous for the Q188R allele. The remaining patient of mixed extraction was heterozygous for the Q188R allele. The estimated carrier frequency of the S135L mutation in 725 healthy black newborns was 1/60.ConclusionsIn the absence of newborn screening the delay in diagnosis is most often unacceptably long. Also, carrier frequency data predict a galactosemia incidence of approximately 1/14 400 for black newborns in the Cape Metropole, which is much higher than the current detection rate. It is thus likely that many patients go undetected.