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Biomedical subjects

J B Beckwith

Publications and source records attributed to J B Beckwith.

At least 145 records · Page 8Linked to original sources
PubMed1982

Epidemiological features of Wilms' tumor: results of the National Wilms' Tumor Study.

Nearly 2,000 children with Wilm's tumor registered in a national clinical trial during 1969-81 showed high rates of aniridia, hemihypertrophy, cryptorchidism, hypospadias, and other genitourinary anomalies. Patients with bilateral disease, who constituted 5% of the total, had younger ages at diagnosis and an increased incidence of congenital anomalies and renal blastemal rests. Those with multicentric unilateral lesions had more blastemal rests but were otherwise indistinguishable from the unicentric cases. The 20 familial cases had none of the features usually associated with genetic tumors: neither younger ages nor an increase in bilaterality nor associated congenital anomalies. These observations suggest that the fraction of Wilm's tumors that is due to an inherited mutation may be substantially smaller than previously supposed and support the concept that the disease arises from a variety of pathogenetic pathways.

Adolescent↗
PubMed1981

The facial features of holoprosencephaly in anencephalic human specimens. I. Historical review and associated malformations.

At least 19 human anencephalic specimens have been published which have the facial features of holoprosencephaly. All categories of holoprosencephaly are represented except ethmocephaly, the rarest form. Because of current scientific and clinical interest in both neural tube defects and holoprosencephaly it seems important to establish whether or not this association occurs by chance alone. The study of human embryos with holoprosencephaly by Matsunaga and Shiota ('78) and the anencephalic collection of Lemire et al ('78) suggests the association may be real.

Abnormalities, Severe Teratoid↗
PubMed1981

The facial features of holoprosencephaly in anencephalic human specimens. II. Craniofacial anatomy.

The craniofacial anatomy of two anencephalic human specimens with the facial features of holoprosencephaly is reported. Many of the malformations have distinctly holoprosencephalic or anencephalic features. Absence of the entire ethmoid complex, observed in both specimens of the present study, has rarely been described and, to our knowledge, has never been confirmed histologically. The significance of agenesis of the ethmoid bone in the development of normal and holoprosencephalic facial features has not been considered previously. On the basis of several morphological variations in the two specimens described, it is evident that the ethmoid bone provides integral support in multiple planes for tissues of the median face. It is postulated that the spatial relationships of the bony and soft tissue components of the median face are guided and maintained by the ethmoid complex during morphogenesis. Specifically, hypotelorism and superiorly displaced structures of the nose and upper lip may well represent migration of embryonic tissues into areas normally occupied by the ethmoid bone. Absence of the sella turcica and pituitary gland is ascribed to the holoprosencephalic process. A variant of choanal atresia, due to collapse of the pterygoid plates, is described.

Anencephaly↗
PubMed1980

Laryngeal mucous gland excess in victims of sudden infant death.

Larynges from 13 victims of sudden infant death syndrome (SIDS) and from ten controls of comparable age were subjected to serial histological transverse section and examined for structural differences that bear on functional performance. The cross-sectional area of mucous glands in the vestibular fold, expressed as a percent of the total cross-sectional area of the fold was 19.52 +/- 8.56 (mean +/- SD in the SIDS specimens), and 12.56 +/- 6.25 in the controls. The difference is statistically significant and suggests that excess mucous laryngeal secretion may be present in at least some cases of the syndrome.

Humans↗
PubMed1980

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congenital heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism. All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8-month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.

Anus, Imperforate↗
PubMed1979

The spectrum of the DiGeorge syndrome.

Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the most common presenting complaint; 15 patients came to medical attention in the first 48 hours of life because of cyanosis, cardiac murmurs, or tachycardia and tachypnea. Two unusual anomalies, interrupted aortic arch or truncus arteriosus, were seen in 17 patients. Clinically documented hypocalcemia associated with seizures was seen in ten patients, with a median age at onset of eight days. Fifteen of our 25 patients died at less than one month of age. Most of the patients surviving the first month of life developed purulent rhinitis, maculopapular rashes, failure to thrive, and developmental delay. Sixteen patients had major congenital anomalies not localized to the anterior neck and thorax; these anomalies included arhinencephaly, cleft lip, palate, or uvula, diaphragmatic abnormalities, hydronephrosis, malrotation of the gut and imperforate anus. The 24 autopsied cases constitute 0.7% of the 3,469 sequential postmortem studies done in the period 1950--1975 at The Children's Orthopedic Hospital and Medical Center.

Autopsy↗
PubMed1979

Sudden infant death syndrome risk factors. Prospective data review.

Prospective data from a population of newborn infants were searched for risk factors for Sudden Infant Death Syndrome (SIDS). Maternal smoking, younger maternal age, short intervals between pregnancies, gestational age of less than 40 weeks, birth weight of less than 3000 g, lower socioeconomic status and male sex were factors found to be associated with SIDS. Race, blood type, maternal hemoglobin level, placental abnormality and newborn condition were not associated with SIDS in this population. Scoring systems to predict which infants will die of SIDS are not yet sensitive enough for clinical use.

Adolescent↗
PubMed1978

Histopathology and prognosis of Wilms tumors: results from the First National Wilms' Tumor Study.

Detailed histological analysis of 427 cases entered on the first National Wilms' Tumor Study revealed that lesions with foci of marked cytological atypism (anaplasia), and those composed predominantly of sarcomatous stroma, were associated with unfavorable outcome. Twenty-five patients had anaplasia, and 24 had sarcomatous lesions of which a total of 28 (57.1%) died of tumor. Three hundred and seventy-eight patients had tumors which showed neither of these features, and only 26 (6.9%) died of tumor. Seven of ten deaths due to tumor in patients diagnosed before two years of age were associated with sarcomatous lesions. Three sarcomatous patterns were recognized, of which one, designated "clear cell" sarcoma, had a predilection for bony metastases. Using criteria defined and illustrated in this paper it is possible to identify in advance those patients likely to do poorly using current therapeutic approaches.

Anaplasia↗
PubMed1977

X-linked mental deficiency megalotestes syndrome.

Members of two kindreds had mental deficiency and megalotestes. The familial occurrence suggests an X-linked recessive trait or autosomal-dominant trait with male sex limitation. The increased testicular size was apparently due to excess fluid content.

Abnormalities, Multiple↗
PubMed1975

Lumbar punctures and meningitis.

Four patients, with an additional seven from the literature, had meningitis following a lumbar puncture (LP) that disclosed normal cerebrospinal fluid (CSF). Animal studies demonstrate that perforation of the meninges in the presence of bacteremia enhances the development of meningitis. Simultaneous blood culture should be obtained with all LPs. Regardless of the results of the initial LP, a second CSF examination is recommended in any patient whose clinical condition is deteriorating. If the initial blood culture is positive, a second LP should be strongly considered in all newborn and very young infants.

Age Factors↗