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Biomedical subjects

Enid Gilbert-Barness

Publications and source records attributed to Enid Gilbert-Barness.

At least 37 records · Page 2Linked to original sources
PubMed2003

Documentation of anomalies not previously described in Fryns syndrome.

We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin, translucent diaphragm, microphthalmia (right), anophthalmia (left), and multiple midline developmental defects including gastroschisis, central nervous system defects including left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge and maxillary bone, and cleft nose with bilateral choanal atresia. These defects add to our knowledge of the phenotype of Fryns syndrome.

Abnormalities, Multiple↗
PubMed2002

Defects of blastogenesis.

Ever more frequent and closer involvement by clinical geneticists and counselors in the prenatal assessment of development mandates a better understanding of all stages of human ontogeny, but especially those of earliest development during which most of the lethal and all of the gross, multiple and complex defects of morphogenesis arise. Because of the phenomenon of universality, i.e., identical molecular inductive mechanisms involved in the process of embryonic pattern formation in all vertebrates, experimental animals indeed are a most valuable approach to an understanding of the causal and formal aspects of development and are beginning to forge essential, strong bonds between molecular biologists and clinicians in a mutually supportive discipline of developmental biology. However, to grieving parents of a stillborn fetus with, say, Pentalogy of Cantrell, sirenomelia or otocephaly, mouse data offer little comfort or reassurance about recurrence; thus, it is imperative to make ever more effective a science of human teratology (sensu lato) with participating reproductive geneticists, obstetricians, neonatologists, ultrasonographers, pediatric/fetal pathologists, cytogeneticists and pediatric geneticists to generate the diagnostic, pathogenetic and causal data necessary to counsel and to comfort the parents. Few molecular data exist on causes of blastogenetic defects in humans; however, the phenomenon of parsimony, whereby the same "morphogenetic" molecule, say, sonic hedgehog (SHH), is "deployed" simultaneously or sequentially during the morphogenesis (and even the histogenesis) of several/many embryonic primordia, makes it likely that a genetic/epigenetic disturbance of such an inductive system will have multiple effects on blastogenetic, organogenetic and perhaps also histogenetic events in the embryo. If causally defined, such a pattern of anomalies constitutes pleiotropy, and the embryo/fetus can be said to have a syndrome. If cause is unknown, the presumption of pleiotropy is less certain, and the fetus/infant may be said to have an "association" with low empiric recurrence risk.

Blastocyst↗
PubMedDate not supplied

Aluminum phagocytosis in quadriceps muscle following vaccination in children: relationship to macrophagic myofasciitis.

Macrophagic myofasciitis (MMF) is a rare, seemingly emerging entity among adult patients in France. We encountered two children with the first two cases of MMF in North America. A 5-year-old male with chronic intestinal pseudo-obstruction required nighttime parenteral nutrition. Abnormal pupillary reflexes and urinary retention suggested a diffuse dysautonomia, which prompted a neurological diagnostic work-up. A 3-year-old child had developmental delay and hypotonia. Both children received age-appropriate immunizations. Quadriceps muscle biopsy from each child showed the typical patchy, cohesive centripetal infiltration of alpha-1-antitrypsin+, alpha-1-antichymotrypsin+, CD68+, PAS+, CD1a-, S-100-, factor XIII- granular macrophages with adjacent myofiber atrophy, dilated blood vessels, and mild endomysial and perimysial fibrosis. No myonecrosis was observed and no discrete granulomas were seen. A single aluminum peak was demonstrated on energy dispersive X-ray microanalysis. The etiology of the clinical symptoms in these cases and in cases reported as MMF remains intriguing. Despite numerous stains to demonstrate organisms, most infectious causes leading to macrophage activation were ruled out. These cases are being reported to increase awareness of this condition and to encourage a systematic epidemiologic and clinicopathologic study in North America.

Adjuvants, Immunologic↗
PubMedDate not supplied

Cardiovascular involvement in metabolic diseases.

Cardiomyopathies are a group of disorders that result in dysfunction of the contractility of the myocardium anda decrease in cardiac function. Cardiomyopathies may be primary or idiopathic or secondary due to an underlying definable systemic disorder. Cardiomyopathies may be further defined as according to the World Health Organization (WHO) as: 1) congestive or dilated; 2) obstructive as in hypertrophic cardiomyopathy; 3) restrictive as in infiltrative disorders such as storage diseases. Two additional categories have been added that include arrhythmogenic right ventricular cardiomyopathy and unclassified cardiomyopathies. A number of metabolic disorders result in cardiomyopathy and are frequently the cause of death in these disorders.

Cardiomyopathies↗
PubMedDate not supplied

Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.

The half-century of lipophobia in the United States may be abating with some return of sanity on the discussion of health and dietary fat [Taubes, 2001]. The youngest victims of this collective, decades long madness are those infants deprived for one reason or another of breast milk. They are unable to speak for themselves at a time of greatest need for cholesterol during growth, the most critical period of myelination of central and peripheral nervous system, formation of bone and bile, and of every steroid hormone. Some of the commercial formulas they are fed contain only 1 or 2 mg of cholesterol per 100 g edible portion contrasted with almost 14 mg in breast milk. One can only hope that the confidence in their endogenous ability to synthesize sufficient amounts of cholesterol is not misplaced. Pediatric pathology has learned that when this endogenous ability fails during embryogenesis on the basis of mutations in the postsqualene biosynthesis of cholesterol, a startling variety of developmental pathology may present itself ranging from lethal forms of "idiopathic" hydrops, microcephaly with cerebral dysgenesis and dysmyelinization, agenesis of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis, adrenal (cortical) insufficiency, cholestatic liver disease, limb malformations, and genital ambiguity in genetic males. Population genetic considerations suggest a hypothetical birth prevalence of the RSH (so-called Smith-Lemli-Opitz) syndrome, the commonest of these Garrodian errors of cholesterol biosynthesis, of 1/2500; since only about 1/15,000 to 1/20,000 homozygotes are liveborn and biochemically confirmed, over 80% prenatal or perinatal mortality must occur and deserves the most discerning of services from birth attendants, perinatologists, neonatologists, and fetal/pediatric pathologists. An easy, reliable, economical biochemical test for the presence of 7-dehydrocholesterol is available and the commonest mutation, the IVS8-1G-->C mutation, is quickly and reliably tested for molecularly. Thus, the successful diagnosis, even after death, will contribute substantially to correct genetic counseling, carrier detection, prenatal diagnosis, and treatment in those known to be affected prenatally andplanned to be liveborn. Thus, developmental pathology plays an integral, vital role in preventive medicine.

Abortion, Spontaneous↗
PubMedDate not supplied

Cardiovascular causes for sudden infant death.

Although sudden infant death syndrome (SIDS) is a cause for sudden infant death, other causes should be ruled out before diagnosing SIDS. Cardiac causes for sudden infant death include viral myocarditis, congential heart disease particularly congential aortic stenosis, endocardial fibroelastosis, and anomalous origin of the left coronary artery from the pulmonary artery. Other cardiac conditions that may result in sudden death include rhabdomyomas of the heart in tuberous sclerosis and conduction system disorders. The most frequent conduction system disorders resulting in sudden death include histiocytoid cardiomyopathy, congential heart block that may be associated with maternal lupus erythematosus, arrhythmogenic right ventricular dysplasia, noncompaction of the left ventricle, and long QT syndromes.

Arrhythmias, Cardiac↗
PubMedDate not supplied

Left chest cyst in 26-week fetus.

A left chest cyst was found in an 18-week fetus. At autopsy it was found to be a cystic lymphangioma arising from the diaphragm.

Autopsy↗
PubMedDate not supplied

Immunohistochemical expression of endothelial nitric oxide synthase and C-kit in the placenta of complete hydatidiform mole.

Complete hydatidiform mole is an abnormal conceptus characterized by hydropic villi accompanied by proliferating trophoblasts. Its pathogenesis is largely unknown. Endothelial nitric oxide synthase is induced by vascular endothelial growth factor and has been implicated in the pathogenesis of preeclampsia and other physiologic conditions in the placenta. C-kit is the tyrosine kinase receptor and is involved in tumor formation elsewhere in the body. Using standard immunohistochemical protocols, we studied the expression of C-kit and endothelial nitric oxide synthase in the placenta of 10 patients with complete hydatidiform mole. Cytoplasmic and nuclear staining with endothelial nitric oxide synthase was identified in the cytotrophoblast and intermediate trophoblast layers in all cases, with high staining in 7/10 and 6/8 cases, respectively. Minimal staining is identified in the syncytiotrophoblast layer. Hofbauer stromal cells were identified in 9 cases and showed low staining intensity in 7/9 cases. Cytoplasmic C-kit staining was diffuse and of low intensity. The cytotrophoblast, the syncytiotrophoblast, intermediate trophoblast, and the stromal cells had low C-kit staining intensity in 8/10, 8/10, 7/9, and 5/9 cases. These results indicate that C-kit and endothelial nitric oxide are expressed in the placentas of complete hydatidiform mole and may play a role in the pathogenesis of trophoblastic proliferation in this condition.

Female↗
PubMedDate not supplied

Histopathology and ultrastructure of human umbilical blood vessels.

To resolve controversy over umbilical vessels structure, a morphological review was undertaken of the histology of blood vessels in 130 fetal umbilical cords varying in gestational age and the ultrastructure of blood vessels in 6 umbilical cords. Arteries and veins were lined by endothelium. The internal elastic lamina was frequently interrupted when associated with intimal thickening of longitudinally orientated smooth muscle cells. Fragments of elastic laminae developed in the intima and inner media both of which were thicker in arteries than in vein. No external elastic laminae or distinct adventitia were found. Most notable was the accumulation of cell debris developed from blebs derived from polypoid cytoplasmic protrusions of smooth muscle cells of both arteries and veins. They underwent hydropic change and became detached and fragmented particularly after 20 weeks' gestation. Similar hydropic degeneration occurred in endothelial cells of arteries and veins, such changes being consistent with the destructive pattern of hemodynamic stresses.

Endothelium, Vascular↗
PubMedDate not supplied

Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?

On the basis of two recently studied human fetuses and the historical records and remnant 19th century skeletons in the Museum Vrolik in Amsterdam, we have begun an analysis of an unusual form of somite dysgenesis. This disorder includes vertebral and costal segmentation defects with or without (distal) limb malformation and deformities, anogenital anomalies, unusual colonic atresia, abdominal wall and diaphragmatic defect, Central nervous system abnormality with large head, and severe neurohypotrophic lower limb deformities. This study suggests the existence of an axial vertebral/costal dysgenesis complex with apparently or nearly normal number of cervical vertebrae. There also is some overlap with lumbosacral agenesis but different from the autosomal recessive entities Jarcho-Levin syndrome or spondylocostal dysostosis. To date, no associated heart defects have been noted.

Abnormalities, Multiple↗
PubMedDate not supplied

Plexiform neurofibroma in type 1 neurofibromatosis.

A 13-year-old African-American girl was admitted to the hospital for surgery. She was diagnosed with Type I neurofibromatosis at the age of 1 year after she was noted to have multiple café au lait spots. Her past medical history included a history of neurofibroma in the base of the brain, treated with radiation therapy and ventriculoperitoneal shunt, as well as a recent diagnosis of bilateral optic gliomas, treated with chemotherapy. Family history was negative for neurofibromatosis.

Abdominal Neoplasms↗
PubMedDate not supplied

Hutchinson-Gilford progeria syndrome: a pathologic study.

Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance if unclear, although both autosomal recessive and autosomal dominant modes have been proposed. The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose; loss of subcutaneous fat; and failure to thrive. This condition has been reported on all inhabited continents and has been described in all major races. Laboratory findings note an increased urinary excretion of hyaluronic acid. Death results from cardiovascular abnormalities in the majority of cases and usually occurs in the second decade of life. There is no effective treatment. We report the pathologic changes noted at autopsy on a 20-year-old woman with classic features of Hutchinson-Gilford progeria syndrome.

Adult↗