Biomedical subjects
Publications and source records attributed to A Augarten.
We report a child who was thought to suffer a non-accidental injury. The parents were unable to convince the child abuse team of their innocence. The eruption of lucent teeth established the diagnosis of osteogenesis imperfecta type IVB.
We describe a patient with male pseudohermaphrodism who has normal basal serum concentrations of cortisol and high basal levels of progesterone and 17 hydroxyprogesterone. Serum concentrations of androstendione, dehydroepiandrosterone sulfate and testosterone were low. On adequate human chorionic gonadotropin (HCG) stimulation, no rise in serum androstendione, dehydroepiandrosterone sulfate or testosterone concentrations was observed. After ACTH stimulation there was an excessive rise in progesterone and 17 hydroxyprogesterone with no rise in androstendione, dehydroepiandrosterone sulfate, testosterone, deoxycorticosterone or cortisol. These clinical and laboratory data suggest that the patient has a combined defect in both cytochromes P450c17 and P450c21. The genes coding for these cytochromes are on different chromosomes, 10 and 6, respectively. Unlike isolated 21 hydroxylase deficiency where all identical HLA siblings suffer from the disease, HLA typing of the patient's family revealed a healthy brother with identical HLA. This suggests that the gene coding for P450c21 on chromosome 6 is not affected and that the lesion might be on a common enzyme which donates an electron to both cytochromes, most probably a flavoprotein.
Only about 30% of the cystic fibrosis chromosomes in the Israeli cystic fibrosis patient populations carry the major CF mutation (delta F508). Since different Jewish ethnic groups tended to live as closed isolates until recent times, high frequencies of specific mutations are expected among the remainder cystic fibrosis chromosomes of these ethnic groups. Genetic factors appear to influence the severity of the disease. It is therefore expected that different mutations will be associated with either severe or mild phenotype. Direct genomic sequencing of exons included in the two nucleotide-binding folds of the putative CFTR protein was performed on 119 Israeli cystic fibrosis patients from 97 families. One sequence alteration which is expected to create a termination at residue 1282 (W1282X) was found in 63 chromosomes. Of 95 chromosomes, 57 (60%) are of Ashkenazi origin. Together with the delta F508 (23% in this group), G542X, N1303K, and 1717-1G----A mutations, the identification of 92% of cystic fibrosis chromosomes of Ashkenazi origin becomes possible. Patients homozygous for the W1282X mutation (n = 16) and patients heterozygous for the delta F508 and W1282X mutations (n = 22) had similarly severe disease, reflected by pancreatic insufficiency, high incidence of meconium ileus (37% and 27%, respectively), early age at diagnosis, poor nutritional status, and variable pulmonary function. In conclusion, the W1282X mutation is the most common cystic fibrosis mutation in the Ashkenazi Jewish patient population in Israel. This nonsense mutation is associated with presentation of severe disease.
We have studied a male patient who presented with secondary infertility. His eldest daughter suffers from late onset congenital adrenal hyperplasia. Based on his hormonal profile, adrenal and gonadal stimulation tests, semen analyses and testicular biopsy he was diagnosed as suffering from the same disease as his daughter. Steroid treatment yielded improvement in all the parameters mentioned above. Four months later his wife became pregnant and he fathered a child. Suppression of gonadotropin secretion due to overproduction of adrenal androgens would appear to be the reason for the failure of testicular maturation and spermatogenesis in this patient. We conclude: 1) glucocorticoid treatment is indicated in infertile males suffering from nonclassical 21-hydroxylase deficiency; 2) Late onset congenital adrenal hyperplasia should be suspected in any male infertility of unknown origin.
Eight patients with Pierre Robin syndrome (PRS), were treated according to our management protocol. All our patients initially were given a trial of conservative, positional treatment, with high caloric gavage feeding. In five patients this therapeutic approach resulted in a good weight gain, with no significant respiratory distress. The remaining three patients showed no improvement, failed to thrive and therefore underwent the tongue to lip adhesion (TLA) procedure. Two patients then improved dramatically; whereas one continued with respiratory distress and failure to thrive and required tracheostomy. We conclude that when symptoms of respiratory distress and failure to thrive coexist in patients with PRS despite conservative management, surgical intervention to the airway is mandatory. TLA should be the first surgical procedure considered and if the ultimate goals of weight gain and respiratory comfort are still not achieved then tracheostomy seems inevitable.
Hydrops of the gallbladder is a rare symptom in young children and might appear in Kawasaki disease (KD) patients. We report this unusual manifestation as a presenting symptom in a 15 month old boy with KD.
This study evaluates the outcome of 56 severely brain injured children (mean age 6.2 +/- 2.1 years) and relates the Initial Glasgow Coma Scale (IGCS), initial intracranial pressure (ICP int), maximal intracranial pressure (ICP max) and minimal cerebral perfusion pressure (CPP min) to quality of survival. Forty-one children sustained head trauma, five severe central nervous system infections and 10 were of miscellaneous etiology. Therapy consisted of mechanical hyperventilation, moderate fluid restriction, dexamethasone and diagnosis specific measures when indicated. Outcome was categorized according to the Glasgow outcome scale at discharge from the hospital. An IGCS of 3 was associated with 100% mortality, 7 and above resulted in 72% good recovery, 28% poor outcome and no mortality. ICP int of less than 20 torr was noted in (67%) of the patients, and did not correlate with ICP max or outcome. Conversely, ICP int in excess of 40 torr correlated well with ICP max and outcome. ICP max of less than 20 torr resulted in 57% good recovery, 36% poor outcome and 7% mortality. ICP max greater than 40 torr resulted in 7% poor outcome and 93% mortality (p less than 0.001). In head trauma, 32 patients (78%) were alive with mean ICP max 16.9 +/- 3.1 and CPP min 65.5 +/- 8.5 torr compared to 9 patients (22%) who died with mean ICP max 53.7 +/- 10.8 and CPP min 6 +/- 3.9 torr, (p less than 0.01). In children with infectious etiology 60% survived with mean ICP max 16 +/- 3 and CPP min 96 +/- 16 torr.(ABSTRACT TRUNCATED AT 250 WORDS)
Prolonged fever, splenomegaly and right ventricular thrombus are rare manifestations of Behçet's disease. We report a 15-year-old boy with Behçet's disease who presents with these unusual manifestations.