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Biomedical subjects

E S Gray

Publications and source records attributed to E S Gray.

At least 19 recordsLinked to original sources
PubMed1998

Nuchal thickening in Jacobsen syndrome.

A routine detailed ultrasound examination performed at 20 weeks' gestation demonstrated the presence of nuchal thickening as an apparently isolated finding. The concentration of maternal alpha-fetoprotein was normal and the risk of Down's syndrome was 1 in 6800. Amniocentesis was performed and chromosome analysis showed the karyotype 46,XY, del(11)(q23) found in Jacobsen syndrome. Fetal autopsy performed following medical termination at 23 weeks confirmed the phenotype and internal abnormalities found in Jacobsen syndrome.

Abnormalities, Multiple↗
PubMed1997

Expanding practice to include i.v. cannulation.

Peripheral i.v. cannulation is one of the most common procedures performed in hospitals. Expanding the nursing role to include i.v. cannulation has the potential to improve care. The individual practitioner is responsible for maintaining and updating such skills.

Catheterization, Peripheral↗
PubMed1996

Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2-year-old girl with familial adenomatous polyposis.

BACKGROUND: Familial adenomatous polyposis (FAP) is a dominantly inherited disorder characterized by the presence of more than 100 adenomatous polyps in the colon and rectum starting in the second decade of life. FAP is associated with extra colonic manifestations, including desmoid tumors. METHODS: A 2-year-old girl presented with a rapidly enlarging tumor of the forehead and a family history of FAP. The tumor was cultured for cytogenetic studies. A DNA linkage study using flanking and intragenic polymorphisms of the adenomatous polyposis coli (APC) gene was performed to identify the allele loss in the tumor. Germline mutation identification was by single strand conformation polymorphism analysis of exon 15 of the APC gene, with subsequent double stranded sequencing of fragments with conformational changes. A mutation-induced loss of a restriction site was used to confirm allele loss in the tumor. RESULTS: Microscopically, the tumor had desmoid features. Cytogenetic analysis of the tumor demonstrated loss of chromosome region 5(q21q22). A truncating adenomatous polyposis coli (APC) gene mutation was identified in the leukocyte DNA from the child and her affected father. Linked DNA markers suggested that the tumor had lost the maternal, wild-type allele. A mutation-induced restriction endonuclease site alteration demonstrated hemizygosity of the mutant sequence in the tumor DNA. CONCLUSIONS: These findings are compatible with the presence of a "second hit" inactivation of the APC gene and implicate this gene in the pathogenesis of desmoid tumors.

Adenomatous Polyposis Coli↗
PubMed1995

A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?

A four generation Scottish family with hidrotic ectodermal dysplasia affecting predominantly teeth, skin and hair is described. Hypo- or oligodontia of the secondary dentition by late adolescence was characteristic and two individuals had multiple natal teeth. Flexural acanthosis nigricans during childhood and early adolescence is a feature in some of the women. All affected individuals produced sweat, but heat tolerance was variable. Hypoplasia of the pilosebaceous units was found on light microscopy in one subject. Scalp hair was thin and slow growing (but adult females described much improved quality during pregnancy) and body hair was scanty. Scanning electron microscopy of hair samples showed abnormal cuticular appearances consistent with a primary defect affecting keratin structure. The nails were normal. Relative macrocephaly due to hyperostosis of the cranial vault was variably present. Short stature (5-10th centile) present in some cases is possibly a separate familial trait. The family demonstrates overlapping features with Clouston syndrome. In Clouston syndrome, however, alopecia can be severe, palmarplantar hyperkeratosis is usually present, and hypo/oligodontia is not a prominent feature.

Adult↗
PubMed1995

Subepidermal calcified nodule in children: a clinicopathologic study of 21 cases.

Twenty-one cases of subepidermal calcific nodule are presented. These lesions occur twice as commonly in males compared to females, with the head (particularly the ear), and neck as favored locations. No case was identified correctly clinically and only 1 case had a history of trauma, which appeared unrelated to the lesion. Histologically, there was a variety of appearances, with two-thirds of specimens exhibiting a warty architecture. Younger lesions were composed of large, amorphous, calcific dermal deposits and were frequently associated with epidermal ulceration. The older lesions were not ulcerated and the calcium deposits were in small spherules. There was no evidence of pilomatrixoma or pre-existing nevus. It is hypothesized that subepidermal calcified nodule represents dystrophic calcification secondary to dermal injury-several in our series showed the architectural changes of verruca vulgaris.

Adolescent↗
PubMed1994

Characterization of striped bass growth hormone receptors by disulfide-bond reduction and cross-linking studies.

Growth hormone (GH) receptors were analyzed in striped bass (Morone saxatilis) by addition of disulfide-bond reducing agents to radioreceptor assays and by cross-linking both striped bass and coho salmon (Oncorhynchus kisutch) crude membrane preparations to radiolabeled hormone. Dithiothreitol (DTT) caused a dose-dependent increase in specific binding of 125I-tilapia (Oreochromis mossambicus) GH to striped bass membrane preparations. Maximal enhancement of 3.4-fold was obtained with 1 mM DTT and 0.03 trypsin inhibitor units/ml of aprotinin. Addition of N-ethylmaleimide (NEM), which binds covalently to free sulfhydryl groups, decreased specific binding. Scatchard analysis of striped bass membrane preparations indicated a single class of GH receptors. Addition of DTT with aprotinin increased GH-binding site concentration from 278 to 507 fmol/mg, while the dissociation constant of 0.56 nM remained unchanged. Cross-linking 125I-tilapia GH to striped bass hepatic membrane preparations and 125I-salmon GH to coho salmon membrane preparations yielded two to three specifically labeled proteins on sodium dodecyl sulfate (SDS)-polyacrylamide gel electrophoresis. Endoglycosidase H treatment was without effect on specifically labeled proteins from either species. Following digestion with N-glycosidase F, relative molecular weights of specifically labeled 125I-GH complexes were reduced, suggesting that hepatic GH-binding proteins in striped bass and salmon are N-linked glycoproteins.

Animals↗
PubMed1994

Sacrococcygeal teratoma: a case of mistaken identity.

We report a case in which prenatal diagnosis of fetal myelomeningocele led to termination of the pregnancy at 17 weeks. The diagnosis was made on the basis of prenatal ultrasound scan and raised maternal alpha-fetoprotein. Although the large cystic lesion arising in the sacral region appeared to confirm the diagnosis, autopsy examination revealed that this was a cystic sacrococcygeal teratoma. This case illustrates the importance of submitting all fetuses for full autopsy.

Diagnostic Errors↗
PubMed1994

Aggressive pilomatricoma in childhood.

Pilomatricoma (calcifying epithelioma) is a benign tumor of the hair matrix cells that presents most frequently in childhood. Most are benign and slow growing and do not recur after excision. A small number of aggressive or malignant variants have been reported that recur if not widely excised. We report on an aggressive variant occurring in a 4-year-old boy and advise caution in treating cutaneous "cysts."

Child, Preschool↗
PubMed1994

Pseudorheumatoid nodule (deep granuloma annulare) of childhood: clinicopathologic features of twenty patients.

Pseudorheumatoid nodule of childhood is seen uncommonly by pathologists and is thought to be a variant of granuloma annulare. We report a series of 20 patients (13 M, 7 F) age 1 to 17 years. Fourteen lesions arose on the front of the lower limb, and 14 children had numerous lesions at diagnosis. Seven developed some form of recurrence, except for one case occurring at the site of the original lesion. Only one patient had a weakly positive rheumatoid factor, and was the patient with remote recurrence. As a significant number of lesions arose around the foot when the child was beginning to walk or starting to wear shoes, it is suggested that trauma plays a role in the development of some of these lesions.

Adolescent↗
PubMed1994

Intralobar bronchopulmonary sequestration: antenatal diagnosis.

A child with the antenatal diagnosis of pulmonary cystic adenomatoid malformation underwent thoracotomy and an intralobar bronchopulmonary sequestration was found. Histological examination of the resected specimen showed cystic adenomatoid malformation within the sequestered segment.

Child, Preschool↗
PubMed1993

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression.

Clinical features and histological findings in two sibs who died from restrictive dermopathy in the neonatal period are described. Fibroblasts cultured from a skin biopsy from the second sib and fibroblasts from normal neonatal skin were studied using monoclonal antibodies to visualise integrin subunits by immunocytochemistry. Restrictive dermopathy fibroblasts displayed increased expression of the alpha-1 and alpha-2 subunits of integrin, those responsible for collagen binding. The increase was not matrix dependent. Integrins may play an important role in tissue differentiation, and our findings support the hypothesis that restrictive dermopathy is a disorder of skin differentiation.

Abnormalities, Multiple↗
PubMed1993

Experimental diabetes mellitus in a teleost fish. II. Roles of insulin, growth hormone (GH), insulin-like growth factor-I, and hepatic GH receptors in diabetic growth inhibition in the goby, Gillichthys mirabilis.

Insulin-dependent diabetes mellitus (IDDM), when untreated or poorly controlled in mammals, results in growth retardation. To determine whether the same relationship exists in an ectothermic vertebrate, IDDM-like symptoms were induced in a teleost fish, the goby Gillichthys mirabilis, by surgical removal of its pancreatic endocrine (islet) organ. Isletectomized (Ix) gobies lost body weight, their skeletal growth was retarded, as measured by changes in body length, and they exhibited a 50% reduction in cartilage 35SO4 incorporation in vitro, consistent with changes that occur in mammals with IDDM. Injections of bovine insulin into the Ix fish restored body growth parameters to control levels and stimulated cartilage 35SO4 incorporation in a dose-related manner. In contrast to mammals with IDDM, which are resistant to GH action, injection of teleost GH stimulated cartilage 35SO4 incorporation in the Ix fish. Furthermore, whereas cartilage from rats with IDDM is resistant to stimulation by insulin-like growth factor-I (IGF-I) in vitro, cartilage explants from the Ix fish were highly responsive to recombinant bovine IGF-I, exhibiting a dose-dependent stimulation of 35SO4 incorporation. As far as we are aware, these results represent the first demonstration of diabetic growth inhibition in an ectothermic vertebrate. This inhibition is similar to that which occurs in mammals with IDDM in some respects, but is different in others, as the diabetic fish did not develop resistance to growth stimulation by either GH or IGF-I. While these results support a role for insulin in maintaining the GH-IGF-I-growth axis in this ectothermic vertebrate, there may be important differences in the role of insulin in the promotion of anabolic processes.

Animals↗
PubMed1992

Regulation of hepatic growth hormone receptors in coho salmon (Oncorhynchus kisutch).

Factors potentially regulating hepatic growth hormone (GH) receptors in coho salmon (Oncorhynchus kisutch) have been investigated. From December to June of the first year, relative changes in hepatic 125I-sGH binding and 35SO4 incorporation by ceratobranchial cartilage were similar. Stunted salmon, which in seawater have elevated plasma GH yet fail to grow, showed lower hepatic 125I-sGH binding than did normally growing seawater salmon. However, MgCl2 treatment of stunts' membranes to reveal total specific binding of 125I-sGH indicated receptor occupation by endogenous sGH. Total specific 125I-sGH binding was low in seawater stunts and remained low if these fish remained unfed after return to fresh water, but increased approximately twofold upon feeding. Total specific binding in fasted salmon in fresh water showed a trend toward decreased levels by 1 week; by 3 weeks, binding was 40% lower than in fed fish. There was a positive correlation (r = 0.600) between condition factor and total specific binding in fed and fasted salmon in fresh water. Two weeks after hypophysectomy total specific binding was 50% lower than in sham-operated control salmon, indicating pituitary regulation of GH receptors. GH treatment reduced both free and total 125I-sGH binding in salmon examined 24 hr after treatment. Treatment with recombinant bovine insulin-like growth factor I, thyroxine, or cortisol did not affect free 125I-sGH binding. Both the pituitary and nutrition appear to be prime regulators of hepatic GH receptors in coho salmon.

Analysis of Variance↗
PubMed1992

Parvovirus infection of the human fetus and newborn.

Human parvovirus B19 is a recently recognized cause of hydrops fetalis. It is a small, single-stranded DNA virus, which preferentially infects late erythroid precursors and produces red blood cell (RBC) aplasia, fetal anemia, and cardiac failure. Infection is accompanied by characteristic intranuclear inclusions in fixed and circulating RBC precursors. These inclusions have been shown to contain virus particles by electron microscopy and in situ hybridization. Infection of the fetus, mother, and newborn infant can be diagnosed by serological and molecular methods selected to match the stage of the infection. Recent work has shown that parvovirus B19 can infect cells other than erythroid precursors, and that additional mechanisms such as myocarditis may contribute to hydrops fetalis in some cases. Infected fetuses are not always hydropic. Maternal infection results in increased abortion and stillbirth even in the absence of transplacental transmission, which occurs in approximately one third of infected mothers. The overall risk of fetal loss following maternal exposure is much less than previously thought, and may be less than 3% in the first 20 weeks of gestation or approximately 10% if the mother is actually infected. Although parvoviruses are teratogenic in animals, there is no evidence that B19 is a significant teratogen in man. The long-term outlook of survivors of intrauterine infection, including those successfully treated by intrauterine blood transfusion, appears to be good, but requires further study.

Erythema Infectiosum↗
PubMed1991

Dandy-Walker malformation in the Meckel syndrome.

The Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2 sibs and one other unrelated case with Meckel syndrome in whom the CNS anomaly was the Dandy-Walker malformation, an association not previously described. The criteria used to diagnose the Meckel syndrome are also reviewed.

Abnormalities, Multiple↗