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Biomedical subjects

B R Pober

Publications and source records attributed to B R Pober.

27 records · Page 2Linked to original sources
PubMed1992

Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.

We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have not been noted in the previously reported clinical syndromes in which pili torti may be found.

Argininosuccinic Acid↗
PubMed1989

Acrocallosal syndrome: new findings.

We describe a 21-month-old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy-Walker malformation, imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome.

Abnormalities, Multiple↗
PubMed1989

Reporting accuracy among mothers of malformed and nonmalformed infants.

The potential for recall bias in case-control studies is a common concern. The authors assessed whether recall bias was present in exposure information reported at postpartum interview by mothers of malformed and nonmalformed infants who delivered at Brigham and Women's Hospital, Boston, during 1984. Accuracy of exposure reporting was measured by comparing interview data with exposure information documented during pregnancy in obstetric records. The authors' measure of recall bias, relative sensitivity (RS), is the ratio of exposure-reporting accuracy for mothers of malformed infants to that of mothers of nonmalformed infants. Relative sensitivity estimates that are greater than 1.0 indicate that mothers of malformed infants are more accurate reporters than mothers of nonmalformed infants. Relative sensitivity was estimated for eight exposure factors: antibiotic or antifungal drug use (RS = 1.2), urinary tract or yeast infection (RS = 2.7), history of infertility (RS = 1.4), use of birth control after conception (RS = 7.6), elective abortion history (RS = 1.1), any over-the-counter drug use (RS = 1.0), spotting or bleeding (RS = 1.2), and nausea or vomiting (RS = 0.8) These data suggest the presence of recall bias for some exposure factors. The authors advise the use of malformed controls to reduce potential recall bias in case-control studies of selected malformations and many etiologic factors.

Abortion, Induced↗
PubMed1987

Accuracy of fetal echocardiography.

The reliability of prenatal ultrasound (US) for the detection of structural heart defects was investigated in a consecutive population of patients referred for prenatal US. Twenty-eight of 49 fetuses (57%) shown to have one or more heart defects with physical examination or autopsy were found to have congenital heart disease with prenatal US. There were 66 cardiac defects in 49 fetuses, 33 of which were entirely or partly identified (50%). Defects correctly diagnosed included hypoplasia of either ventricle, common atrioventricular canal, tetralogy of Fallot, transposition of the great vessels, and Ebstein anomaly. Defects rarely diagnosed correctly included semilunar valve stenosis, total anomalous pulmonary venous drainage, coarctation of the aorta, pulmonic atresia, atrioseptal defect, and ventricular septal defect. Many types of heart defects can be diagnosed accurately with prenatal US in a general population of patients not at high risk for congenital heart disease. Some lesions, however, were difficult to detect.

Diagnostic Errors↗
PubMed1986

Complexities of intraventricular abnormalities.

We identified 59 fetuses and infants with intracranial anomalies over 5 1/2 years. The cases represented heterogeneous diagnostic groups: hydrocephalus with a neural tube defect, hydrocephalus with a specified structural anomaly, hydrocephalus of unspecified or miscellaneous cause, holoprosencephaly, and hydranencephaly. One or more major nonneural tube malformations were present in 19 of 54 cases. Eight of 32 cases had a significant chromosomal abnormality. The rate of survival was poor: 13 of 59 pregnancies were terminated electively before 24 weeks gestation, 10 of 59 infants were stillborn, and 16 of the remaining 38 liveborn infants have died since birth. A prenatal ultrasonographic diagnosis was made in the majority of cases (50 of 59). Diagnostic accuracy of prenatal ultrasound examinations ranged from a high of 90% for hydrocephalus to 33% for holoprosencephaly and hydranencephaly, and a low of 22% for the presence of extracranial malformations. Eleven cases in this series could have been considered potential candidates for in utero treatment of ventriculomegaly; this therapy would have been ineffective or inappropriate in eight of these. We recommend that each case undergo thorough diagnostic evaluation, including ultrasound examination and chromosome studies; that parents be informed of the high frequency of associated anomalies, the poor prognosis regarding survival, and the current limitations of ultrasound diagnostic accuracy; and that in utero treatment of fetal ventriculomegaly seems inadvisable at the present time.

Abortion, Induced↗
PubMed1986

Isolated congenital renal tubular immaturity in siblings.

This paper describes two cases of an unusual renal abnormality discovered in anuric siblings (one male, one female) who were born at 36 and 34 weeks of gestation and died of systemic complications secondary to severe pulmonary hypoplasia shortly after birth. Both gestations were complicated by marked oligohydramnios. Antenatal ultrasound examinations showed slightly enlarged kidneys in the first case and normal kidneys in the second case, with no evidence of hydronephrosis or cystic disease in either. With the exception of enlargement of the first infant's kidneys, autopsies revealed grossly unremarkable kidneys and ureters. Microscopy, however, demonstrated increased glomerulogenesis with normal glomeruli and global immaturity of renal tubules and ducts without concomitant features of dysplasia. Immunoperoxidase staining for epithelial membrane antigen revealed the immaturity or complete absence of proximal convoluted tubules. This precise constellation of findings had not been described previously. One other similar family has been documented in a report implicating genetic factors. In the present cases, the possibility of a cocaine-associated etiology is also addressed.

Female↗
PubMed1982

Predictive value of surveillance skin cultures in total-parenteral-nutrition-related infection.

To assess the importance of skin flora in the pathogenesis of infection complicating total parenteral nutrition and the predictive value of positive skin cultures for the development of infection 54 patients, who received 59 courses of total parenteral nutrition, were followed up. Three times per week, at the time of dressing and line changes, the skin at the site of insertion of the cannula was swabbed for culture. Results of skin cultures were compared with results of semiquantitative culture of the proximal intravascular portion of the cannula. Infected patients were defined as those having cannula cultures with greater than or equal to 15 colonies or those with primary septicaemia. 21 of 59 courses (36%) were associated with positive skin cultures; 14 of these 21 courses were associated with cannula infection, 2 with bacteraemia or fungaemia, and 12 with local infection. 38 of 59 (64%) courses had sterile skin cultures; in none of these 38 patients did infection develop (p less than 0.001). Skin colonisation was associated with otherwise unexplained fever (11 of 21 with positive skin culture versus 5 of 38 with negative skin culture, p less than 0.001), inflammation at the insertion site (13 of 21 versus 10 of 38, p less than 0.05), and violations of line protocol (11 of 21 versus 10 of 38, p less than 0.05). The absence of any organism on the skin had a negative predictive value of 98%, whereas the presence of an organism on the skin had a positive predictive value of 61%. Skin culture thus seems able to identify which patients receiving parenteral nutrition are at high risk of infection.

Adult↗