PubMed Health⌕ Search

Biomedical subjects

W Wertelecki

Publications and source records attributed to W Wertelecki.

At least 19 recordsLinked to original sources
PubMed1992

Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.

We describe initial observations of an infant with dermatosparaxis (another form of Ehlers-Danlos syndrome, designated as type VIIC), an autosomal recessive disorder characterized by skin fragility and described in several species of domesticated animals. Electron microscopic examination of the skin shows collagen sheets rather than fibrils, and characteristic distortions resembling hieroglyphs. In addition to skin fragility, the disorder is characterized by redundant skin folds and edema, healing with minimal scar formation, large fontanels and wide sagittal and metopic sutures, blue sclerae, micrognathia, and umbilical hernia; after the neonatal period there are joint laxity, growth failure, short limbs, and normal mineralization of the skeleton except for the cranial vault. This disorder may also be a cause of premature rupture of placental membranes and myopia.

Ehlers-Danlos Syndrome↗
PubMed1992

Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.

Dermatosparaxis is a recessively inherited connective-tissue disorder that results from lack of the activity of type I procollagen N-proteinase, the enzyme that removes the amino-terminal propeptides from type I procollagen. Initially identified in cattle more than 20 years ago, the disorder was subsequently characterized in sheep, cats, and dogs. Affected animals have fragile skin, lax joints, and often die prematurely because of sepsis following avulsion of portions of skin. We recently identified two children with soft, lax, and fragile skin, which, when examined by transmission electron microscopy, contained the twisted, ribbon-like collagen fibrils characteristic of dermatosparaxis. Skin extracts from one child contained collagen precursors with amino-terminal extensions. Cultured fibroblasts from both children failed to cleave the amino-terminal propeptides from the pro alpha 1(I) and pro alpha 2(I) chains in type I procollagen molecules. Extracts of normal cells cleaved to collagen, the type I procollagen synthesized by cells from both children, demonstrating that the enzyme, not the substrate, was defective. These findings distinguish dermatosparaxis from Ehlers-Danlos syndrome type VII, which results from substrate mutations that prevent proteolytic processing of type I procollagen molecules.

Amino Acids↗
PubMed1990

The brain in the 18q-syndrome.

The authors describe the cerebral neuropathological findings of a 25 1/2-year-old male with 18q-syndrome. An abnormal gyral pattern, atrophy of the olfactory and optic nerves and small neocerebellar hemispheres with hemispheral lobular sclerosis were noted. Microscopically there were pial glioneuronal heterotopias; misplacement of neurons in the molecular layer of the cortex, as well as in deep white matter; not readily identifiable Betz cells; gliosis of olfactory and optic tracts and elsewhere; and loss of Purkinje cells. Further detailed studies of other cases are needed to determine whether these abnormalities are characteristic of the 18q-syndrome.

Adult↗
PubMed1990

Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22.

Neurofibromatosis 2 or bilateral acoustic neurofibromatosis (NF2) is a severe autosomal dominant disorder characterized by the development of multiple tumors of the nervous system, including meningiomas, gliomas, neurofibromas, ependymomas, and particularly acoustic neuromas. Polymorphic DNA markers have revealed frequent loss of one copy of chromosome 22 in the tumor types associated with NF2. Family studies have demonstrated that the primary defect in NF2 is linked to DNA markers on chromosome 22, suggesting that it involves inactivation of a tumor suppressor gene. We have employed a combination of multipoint linkage analysis and examination of deletions in primary tumor specimens to precisely map the NF2 locus between flanking polymorphic DNA markers on chromosome 22. The 13-cM region bracketed by these markers corresponds to 13% of the genetic length of the long arm of chromosome 22 and is expected to contain less than 5 x 10(6) bp of DNA. The delineation of flanking markers for NF2 should permit accurate presymptomatic and prenatal diagnosis for the disorder and greatly facilitate efforts to isolate the defective gene on the basis of its location.

Alleles↗
PubMed1988

Neurofibromatosis 2: clinical and DNA linkage studies of a large kindred.

At least eight provisional categories of neurofibromatosis have been proposed. Among these, neurofibromatosis 1 (von Recklinghausen's disease or peripheral neurofibromatosis) and neurofibromatosis 2 (central or bilateral acoustic neurofibromatosis) have been established as distinct disorders. We studied 15 affected male and 8 affected female members of one large kindred with neurofibromatosis 2. None of the patients met the diagnostic criteria for neurofibromatosis 1. Between the ages of 15 and 53 years, the patients had multiple central nervous system tumors of various types--mainly, bilateral acoustic neuromas. Two or more tumors eventually developed in 20 of the patients; 9 had evidence of only bilateral acoustic neuromas. Meningiomas and ependymomas were more common among the young patients; those who initially presented with acoustic neuromas were nearly a decade older. Intracranial nontumoral calcifications were present in most patients and were also found in symptom-free children. The presence of such lesions is probably a prodromic feature of neurofibromatosis 2. Simultaneous analysis of D22S1 and IGLV DNA markers for coinheritance with neurofibromatosis 2 indicates that the locus for the disease is near the center of the long arm of chromosome 22 (22q11.1----22q13.1). The eventual isolation of this disease gene may reveal a cause of the most common intracranial tumors in humans.

Adolescent↗
PubMed1988

History of the cerebrohepatorenal syndrome of Zellweger and other peroxisomal disorders.

The history of the peroxisomal disorders (PDs), including the most frequent variant, the cerebrohepatorenal syndrome of Zellweger, can be divided into four phases. During the first phase, lasting from 1964 to 1972, the clinical and pathologic manifestations of Zellweger's syndrome (ZS) were explored and delineated. In 1973 it was found that ZS is due to the absence of peroxisomes in hepatocytes and renal tubular epithelial cells. With this discovery the second phase of ZS was initiated, which in subsequent years led to discovery of various defective peroxisomal functions. During the third phase, beginning in 1980, various other peroxisomal disorders were discovered, among them infantile Refsum's disease, hyperpipecolic acidemia, neonatal adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata. During 1986 the etiology of the various PDs was identified by complementation studies, marking the beginning of the fourth phase of the history of the peroxisomopathies. It was found that ZS, neonatal adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata represent different genetic entities, while Refsum's disease and hyperpipecolic acidemia are alleviated variants of ZS. Moreover, results of preliminary studies indicate that cells of one case of ZS may complement the cells of another ZS case, which could indicate genetic heterogeneity of ZS.

Abnormalities, Multiple↗
PubMed1988

Angiomas and von Recklinghausen neurofibromatosis.

The notion that vascular alterations represent a major feature of the pathogenesis of neurofibromatosis (NF) has been supported by an increasing number of observations. We present data about skin Morgan angiomas in the general US white population and a cohort of patients with NF-1 and their unaffected relatives. Among patients with NF-1, angiomas were significantly more common, but not so among unaffected relatives. The striking nature of skin angiomas in some patients is illustrated by a mother-daughter pair with innumerable lesions of early onset. The mother also had a large venous angioma and a constriction of the siphon of an internal carotid artery.

Adult↗
PubMed1987

Maternal smoking: greater effect on males, fetal tobacco syndrome?

We tested the recently proposed criteria for a Fetal Tobacco Syndrome (FTS) on a sample of 925 primiparous black women (including 204 smokers) and their neonates. The proposed FTS criteria included proportional growth retardation (ponderal index greater than 2.26, birth weight less than 2,500 g) in term neonates. Only 19 neonates (2%) in our study fulfilled the FTS morphometric criteria, and of these only 8 had smoking mothers. Nonetheless, the negative effect of maternal smoking on fetal growth (birth weight and length) as reported from earlier investigations was clearly evident in our own data (P less than .01). Separate analysis by fetal sex revealed that the negative effect of maternal smoking upon fetal growth is more pronounced among males than females. We concluded that fetal sex should be taken into account in studies of maternal smoking effects. As for evidence for the existence of the FTS, it remains to be proven.

Adolescent↗
PubMed1987

Myopathy in Marinesco-Sjogren syndrome.

Progressive muscular weakness, hypotonia and atrophy are among the cardinal signs of the Marinesco-Sjogren syndrome but have not been extensively investigated. Our study focused on 6 related patients who are members of an inbred population. Muscle biopsies revealed myopathic alterations with variation of fiber size, rounding, degeneration and regeneration of fibers, internalization of nuclei and endomysial fat and fibrosis. Most patients had elevated serum creatine kinase levels. One patient revealed endstage neuromuscular disease and had normal serum creatine kinase levels. Of particular interest was the finding of conspicuous myopathy in 2 young children. Thus far, it has not been appreciated that myopathy represents an early sign of the Marinesco-Sjogren syndrome.

Adult↗
PubMed1986

Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata.

Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.

Adult↗
PubMed1986

Diet, blood pressure, and hematologic variables of nulliparous women attending a prenatal clinic.

Diet, hematology, and blood pressures of 1800 black and white nulliparous women were surveyed at a prenatal clinic. Although black women had higher blood pressure and lower hemoglobin and hematocrit means that white women, no racial differences were found for prevalence of anemia or hypertension. White women reported less adequate intakes of protein/iron and vitamins B and C compared with black women. No associations between dietary intake and anemia or hypertension were found in univariate analysis. Failure to find racial differences in prevalence of hypertension and anemia may reflect improvements in the dietary supplementation and health care available to lower socioeconomic, black women in the last decade.

Adolescent↗
PubMed1986

Trend associations of smoking with maternal, fetal, and neonatal morbidity.

Smoking habits, prenatal health, and pregnancy outcome were surveyed among 1700 nulliparous women. During pregnancy, increases in levels of hemoglobin and hematocrit and the frequency of women reporting bleeding and decreases in diastolic pressure and frequency of toxemia were observed with increased maternal smoking. A higher frequency of fetal bradycardia was detected among women smoking greater than or equal to one-half pack per day. With increased smoking there was an increased frequency of abnormal placentas. Mean birth weight and crown-heel length decreased with increased smoking, and neonates born to women smoking greater than or equal to one-half pack per day had a higher frequency of jaundice. The association between smoking and reduced birth weight and crown-heel length persisted after controlling for gestational age, maternal weight gain, prenatal visits, and other confounding variables.

Birth Weight↗