ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02405.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02406.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02407.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

Abnormal epithelial transport in cystic fibrosis (CF) appears to provide a unifying hypothesis to explain the varying clinical manifestations of CF. The major abnormality is the cell regulation of epithelial Cl‐secretion; however, a number of other abnormalities of electrolyte transport has been observed. A description of the normal physiology of secretion and the current state of our knowledge of the abnormalities of epithelial secretion is discusse

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02408.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

AbstractDiscriminant analysis was used to differentiate between extrahepatic biliary atresia and intrahepatic cholestasis. Among the ten laboratory variables tested, three (γ‐glutamyl transpeptidase, alkaline phosphatase and total serum bilirubin) were useful in the differential diagnosis. γ‐Glutamyl transpeptidase contributed most to the discrimination (85%). From a population study of 28 babies with extrahepatic biliary atresia and 24 infants with intrahepatic cholestasis, the procedure achieved a diagnostic accuracy and specificity of 92.9% and an efficiency of 92.3%. The jackknife procedure has also confirmed that the mathematical model was robust for discriminant analysis and therefore it may be valid for screening infants with cholestasis for early surgical intervention. Discriminant analysis is a useful adjunct for differentiation between intrahepatic cholestasis and extrahepatic biliary at

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02409.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

AbstractThere are little longitudinal data available for sample populations of Australian children. Previous findings from the Brunswick Family Study, unlike earlier overseas studies, have shown that adverse family and social factors were not associated with growth abnormalities. Follow‐up of 224 children from the cohort at 4 years of age has confirmed absence of significant growth disturbances, no mortality between 1 and 4 years, and serious morbidity due to organic illness in only 4% of the sample. However, 22% of the 4 year olds were found to have behaviour disturbances. These findings from a multi‐ethnic, poorer socio‐economic status population sample illustrate the importance of behaviour disturbances as one aspect of the new morbidity in Australian paediatrics and indicate that the once prevalent growth failure and organic morbidity consequent to family and social disadvantage have all but disapp

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02410.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

AbstractThirty‐five patients with significant fetal hydronephrosis detected on antenatal ultrasound had postnatal investigations which included ultrasound,99mtechnetium diethylenetriamine pentacetic acid (99mTcDTPA) renal scans and micturating cysto‐urethrograms. Antenatal and postnatal ultrasound were unable to determine reliably the level of obstruction causing the hydronephrosis. The99mTcDTPA renal scan was useful in determining the necessity and timing of surgery, but could not exclude vesico‐ureteric reflux. Seven patients required surgery in the neonatal period and a further seven children had surgery because of deterioration of the scan appearance on follow‐up studies performed at 3, 6 and 12 months of age and then at longer time intervals. Twenty patients (almost 60%) have been managed conservatively for a mean of 28 months (range: 12 months‐7 years) with no deterioration in renal

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02411.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

AbstractMetaphyseal chondrodysplasia is a rare disorder of which there are five types: the Jansen type, Schmid type, McKusick type, metaphyseal chondrodysplasia and thymolymphopenia, and metaphyseal chondrodysplasia with malabsorption and neutropenia also known as Shwachman's syndrome. All of the bony changes associated with these disorders are considered to be due to a primary defect in the metaphyseal portion of the growth plate. Accurate diagnosis is of importance as the members of the above‐mentioned pentad have varying genetic implications as well as widely varying prognoses. We report a case of juxta‐epiphyseal pathological fracture of the proximal femur secondary to Shwachman's syndrome. The characteristic radiological appearance and management of this complication have not been described. It is important that appropriate management be instituted in this condition because patients with Shwachman's syndrome carry a good prognosis both for length and quality of l

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02412.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

AbstractOver a 5 year period in Newcastle, 18 new cases of cystic fibrosis (CF) ware diagnosed in children who had been screened in the newborn period. In six of these children, the screening programme failed. Four of these children had a normal screen and an additional two had elevated immunoreactive trypsin (IRT), but there were problems with the notification procedure. Three of the children missed by the screening process had a significantly delayed diagnosis; in all three cases the diagnosis of CF was suspected clinically, but a sweat test was delayed because of false reassurance from the fact that the child had been screened for CF. In a fourth case, multiple elevated sweat electrolyte levels were obtained, but the diagnosis of CF was considered to be in doubt because of the normal IRT assay. A sweat test should be performed on any child in whom there is clincial suspicion of CF.

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02413.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY

摘要:

AbstractThe clinical and cytogenetic findings of two cases of cri‐du‐chat syndrome are described. Both cases were females with only slight growth delay, moderate mental disability and minimal phenotypic effects. The mild phenotype was difficult to correlate with the karyotype, which on GTG and RBG banding showed that each had a regularde novo5p deletion. The deletion in Case 1 was terminal — 46, XX, del(5) (pter ← p15:2:) and in Case 2 it was interstitial—46, XX, del(5) (pter ← p15.2::p133 ← qter). The deletion in Case 2 was considerably larger t

ISSN:1034-4810    

DOI:10.1111/j.1440-1754.1990.tb02414.x

出版商:Blackwell Publishing Ltd    

年代:1990

数据来源: WILEY