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Biomedical subjects

J A Hurst

Publications and source records attributed to J A Hurst.

At least 37 records · Page 2Linked to original sources
PubMed1996

Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrum.

We report three babies with malformations of left-right asymmetry who were born to mothers with insulin-dependent diabetes mellitus. One infant had left isomerism and asplenia, one had polysplenia, and the third baby had situs inversus with a neural tube defect. Defects of left-right asymmetry have not previously been well recognized as part of the spectrum of anomalies associated with maternal diabetes. We believe that the association of maternal diabetes with these malformations in the infants is not coincidental, and that diabetes mellitus has an aetiological role in this spectrum of abnormalities. Two of the mothers had elevated HbA1C levels in pregnancy, and thus the malformations may be due to poor glycaemic control, although other teratogenic mechanisms associated with diabetes cannot be excluded. Finally, to our knowledge, the finding of left isomerism with asplenia (part of the spectrum of right isomerism) is rare. The occurrence of both forms of isomerism in different parts of the same body supports the model of random development of laterality following the interruption of normal developmental processes.

Abnormalities, Multiple↗
PubMed1995

Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence.

Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a "happy" facial appearance, and joint contractures. Infiltration of heart valves and liver with a mucopolysaccharide-like substance has been demonstrated in some patients. A metabolic pathogenesis is suspected, but has not yet been identified. We report on 3 boys with the condition, 2 of whom are brothers. Serial ultrasound scans were performed on 2 of the cases during pregnancy, but short limbs did not become obvious until after 28 weeks of gestation, making it an uninformative procedure for prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1995

Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion.

PURPOSE/METHOD: A 15-year-old boy with bilateral blepharoptosis, bilateral type 1 Duane's retraction syndrome, and mild learning difficulties underwent chromosomal analysis. RESULTS/CONCLUSIONS: A de novo deletion of a segment of the long arm of chromosome 4 (4q27-31) was found. To our knowledge, no other individuals with this chromosome deletion have Duane's retraction syndrome. The chromosome defect lies close to the epidermal growth factor gene, 4q25, which was recently linked to Rieger's syndrome. We suggest that families with Duane's retraction syndrome should be assessed for linkage to the area of 4q27-31.

Adolescent↗
PubMed1995

Transverse limb deficiency, facial clefting and hypoxic renal damage: an association with treatment of maternal hypertension?

Transverse limb defects are reported in a fetus and an infant born to mothers on treatment for hypertension. One pregnancy resulted in an intrauterine death at 20 weeks, and in addition to the limb defects, there was bilateral cleft lip and palate and renal hypoxic damage. It is proposed that the drugs caused maternal hypotension which led to reduced uteroplacental blood flow, fetal hypotension and hypoxia and that the anomalies seen in the two babies are a consequence of these events.

Abnormalities, Drug-Induced↗
PubMed1991

Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.

A girl is described with bilateral retinal colobomata, Fallot's tetralogy, unilateral choanal atresia, abnormalities of the external ears, bilateral sensorineural deafness, a unilateral facial nerve palsy, and a tracheo-oesophageal fistula. A clinical diagnosis of the CHARGE association was made. She had an apparently balanced whole arm translocation involving chromosomes 6 and 8. Parental karyotypes were normal.

Abnormalities, Multiple↗
PubMed1990

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.

A female infant is described with an unusual combination of eye and skin findings. Raw linear skin lesions on the face and neck were present at birth, healing to leave pigmented streaks. In addition she had left sided microphthalmia and bilateral sclerocornea. Chromosome analysis showed a terminal deletion of the short arm of the X chromosome (Xp22.2--pter). Clinical findings were similar to three previously described children with translocations involving Xp22.3. The condition probably represents a new syndrome distinct from incontinentia pigmenti and Goltz syndrome.

Chromosome Deletion↗
PubMed1989

Unknown syndrome: congenital heart disease, choanal stenosis, short stature, developmental delay, and dysmorphic facial features in a brother and sister.

We report a brother and sister born to non-consanguineous parents. They both had an atrial septal defect and ventricular septal defect. In addition they had short stature, microcephaly, developmental delay, and the same dysmorphic facial appearance of a short nose, epicanthic folds, a long philtrum, and narrow upper lip. The boy had bilateral choanal hypoplasia and stenosis.

Abnormalities, Multiple↗
PubMed1988

Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.

We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.

Abnormalities, Multiple↗
PubMed1988

Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.

We describe three children with Hirschsprung's disease and microcephaly, two of whom also have an iris coloboma. Two of the children, one with a coloboma and one without, are from the same consanguineous pedigree. The third case is unrelated and was identified by the matching program of the London Dysmorphology Database. This is the first report of this combination of features which are considered to be secondary to defective neuronal migration. An autosomal recessive mode of inheritance is proposed.

Coloboma↗
PubMed1977

Urinary tract infections in childhood: the place of the nitrite test.

The effectiveness of the nitrite test available on the N-Multistix (Ames Co.) was compared with that of the microscopic examination of urine as a screening test for the detection of urinary tract infections in children presenting to a general paediatric clinic. The nitrite test gave a positive result in 59% of children with urinary infections, while microscopic pyuria (more than 50 white blood cells per cubic millimetre of uncentrifuged urine) was found in 72% of the same group. Of children who did not have a urinary tract infection, 2.8% had microscopic pyuria compared with only 0.2% who showed a false-positive nitrite test result. The ease and rapidity of the nitrite test make it a useful screening test for the presumptive diagnosis of urinary tract infections, and in certain circumstances it is preferable to the conventional microscopic examination of urine. However, as in the case of microscopic examination, urine culture must always be performed to avoid missing the urinary infections that are not detected by the screening test.

Bacteriuria↗
PubMed1975

The emergency treatment of poisoning in children.

The various methods commonly used to reduce the amount of a poison that will be absorbed from the alimentary tract are evaluated according to safety, speed of action, effectiveness and patient acceptability. The conclusion is reached on the evidence available that syrup of ipecacuanha is the method of choice in the routine emergency treatment of childhood poisonings. The indications for other methods are defined.

Adsorption↗