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Biomedical subjects

L S Levin

Publications and source records attributed to L S Levin.

At least 91 records · Page 5Linked to original sources
PubMed1990

Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.

There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the cataract-dental syndrome or Nance-Horan (NH) syndrome. To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree including seven affected males and nine carrier females was performed using 31 DNA markers. A LOD score of 1.662 at theta = 0.16 was obtained with probe 782 from locus DXS85 on Xp22.2-p22.3. Negative LOD scores were found at six loci on the short arm, one distal to DXS85, five proximal, and six probes spanning the long arm were highly negative. These results make the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.

Abnormalities, Multiple↗
PubMed1990

Distal rupture of the palmaris longus tendon and fascia as a cause of acute carpal tunnel syndrome.

Acute carpal tunnel syndrome is rare compared with its more chronic presentation. Previous reports in the literature have documented the most common causes. Rupture of the distal palmaris longus tendon into the palmaris fascia as a cause of an acute carpal tunnel syndrome has not been reported previous to this case report. Partial rupture of the tendon and hemorrhage around its insertion produced intrinsic compression on the transverse ligament and the underlying nerve.

Acute Disease↗
PubMed1990

Human papillomavirus in squamous cell carcinoma, leukoplakia, lichen planus, and clinically normal epithelium of the oral cavity.

Tissue specimens of carcinoma, leukoplakia, and clinically normal epithelium obtained at sites separate from the lesions were examined for the presence of human papillomavirus (HPV). Twenty-two paraffinized specimens of previously diagnosed oral lichen planus were also studied. The carcinoma and leukoplakia specimens were examined by Southern transfer hybridization and reverse blot hybridization; specimens HPV-positive by Southern hybridization were additionally examined by in situ hybridization and an immunoperoxidase technique. The lichen planus specimens were examined by in situ hybridization and immunoperoxidase techniques only. The HPV identification rates were in the range reported in previous studies, and the detection rates were similar for carcinoma, leukoplakia, histologically normal epithelium, and lichen planus. The clinical significance of HPV presence in carcinoma, leukoplakia, and lichen planus was not evaluable because of the short duration of follow-up.

Adult↗
PubMed1990

Management of severe musculoskeletal injuries of the upper extremity.

Limb salvage was successful in 25 patients treated for severe grade III upper extremity injuries. In a retrospective review of 20 men and five women, follow-up time averaged 26 months. These high-energy injuries were characterized by massive soft-tissue injury, highly comminuted fractures, and significant neurovascular injury. Farm, industrial, and vehicular accidents accounted for 80% of the cases. Over 50% of the patients had concomitant systemic and/or other significant extremity injuries. Initial treatment consisted of irrigation and debridement and fracture stabilization using external and/or internal fixation. An average of four additional surgical procedures was required to provide soft-tissue coverage and maximum possible functional recovery. Forty-eight percent of the extremities underwent free vascularized or pedicular flaps for coverage or reconstruction. At final follow-up observation, 12% of the extremities rated excellent, 20% rated good, 52% fair, and 16% were poor. Experience gained in managing these severe upper extremity fractures supports the following observations. (a) Grade III open fractures of the upper extremities are frequently associated with significant neural, vascular, and musculotendon injuries. (b) External fixation plays an important role in the stabilization of grossly contaminated fractures. (c) Residual functional disability is common, and most patients do not return to their previous occupation. (d) Staged reconstruction directed toward maximum functional return may take several years.

Adolescent↗
PubMed1989

Variations in two-point discrimination as a function of terminal probes.

A study was designed to investigate the role of terminal probes as determinates of two-point discrimination in the normal hand. A Vernier caliper was modified to allow an exchange of probes with different diameters and with different terminal shapes. These terminal devices included flat, sharp, and rounded probe tips of various diameters. There was variability in normal subjects for different end probes and our results indicated that spherical probes give the largest variation in two-point discrimination while pointed end probes provide the least variation. Variations of up to two millimeters can occur between large and small diameter probes. This study quantitatively supports the contention that different terminal devices will produce different recruitment of the sensory end organs in the hand, and strongly suggests the need for standardization of condition in assessment of sensory recovery.

Adult↗
PubMed1989

Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta.

Severe Sillence type II/III Osteogenesis imperfecta (OI) is a lethal or severely crippling disease with either autosomal dominant or recessively inherited type I collagen mutations. Here we describe the detailed clinical features of a thin-ribbed OI variant with deformed limbs. The three consecutively affected children showed no genetic linkage with either of the two type I collagen genes, which implies that a novel mechanism causes this clinical phenotype. It can be prevented using ultrasound to diagnose affected foetuses.

Collagen↗
PubMed1989

Health for today's youth, hope for tomorrow's world.

What is the best way to ensure the highest possible level of health among young people? Sound public policies, supportive environments, community action, and the reorientation of health services all have a part to play. Of particular importance, however, is the direct involvement of youth in the promotion of its own health.

Adolescent↗
PubMed1989

Predictors of death from chronic graft-versus-host disease after bone marrow transplantation.

Chronic graft-v-host disease (chronic GVHD) is a frequent cause of late morbidity and death after bone marrow transplantation (BMT). The actuarial survival after onset of chronic GVHD in 85 patients was 42% (95%Cl = 29%, 54%) at 10 years. Baseline characteristics present at the onset of chronic GVHD (before therapy) in 85 patients were reviewed to determine which were risk factors for death. In a multivariate proportional hazards analysis, three baseline factors emerged as independent predictors of death: progressive presentation (chronic GVHD following acute GVHD without resolution of acute GVHD; hazard ratio of 4.1, 95% Cl = 2.1 to 7.8), lichenoid changes on skin histology (hazard ratio of 2.2, 95% Cl = 1.1 to 4.3), and elevation of serum bilirubin greater than 1.2 mg/dL (hazard ratio = 2.1, 95% Cl = 1.1 to 4.1). Actuarial survival of 23 chronic GVHD patients with none of these risk factors was 70% at 6 years (95% Cl = 38%, 88%). Thirty-eight patients with one of these risk factors had a projected 6-year survival of 43% (95% Cl = 21%, 63%). The 29 patients with any combination of two or more of these factors had a projected 6-year survival of only 20% (95% Cl = 8%, 37%). Identification of baseline risk factors should facilitate design of trials of chronic GVHD therapies and assignment of high-risk patients to more aggressive innovative therapeutic regimens.

Actuarial Analysis↗
PubMed1988

Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in Gardner syndrome.

Hepatoblastoma is a rare neoplasm of infants and children only recently documented in association with hereditary adenomatous polyposis of the colon [Kingston et al., 1983]. We report four children with hepatoblastoma from four unrelated families with Gardner syndrome (GS). One child, now 19 years old, survived after a resection of a hepatoblastoma in infancy and recently was found to have GS. He has an associated odontoma and pigmented ocular fundus lesions, both of which have been shown to be clinical markers of GS. Many individuals in these four GS families, both affected and at risk, have osteomatous jaw lesions and pigmented ocular fundus lesions. A search for colonic polyps should be made in families of infants and children with hepatoblastoma. If the child survives, he or she should be monitored for the later appearance of colonic polyps. The finding of jaw lesions and/or pigmented ocular fundus lesions in relatives at risk are indications of the possible presence of the GS gene.

Eye Diseases↗
PubMed1988

Osteogenesis imperfecta type I with unusual dental abnormalities.

A large kindred with dominantly inherited osteogenesis imperfecta was evaluated. Affected individuals had bone fractures, blue sclerae, and hearing loss. In addition, all had dental abnormalities distinct from those previously described in other families with this syndrome. Deciduous teeth were normal in color or blue-grey. On radiographs of an early developing deciduous dentition, pulps were larger than normal. In patients with mixed dentitions, pulp chambers of deciduous teeth were partially obliterated. Increased constriction at the junctions of the crowns and roots was found in some deciduous teeth. One patient had large pulp stones in the pulp chambers of all maxillary deciduous molars. Permanent teeth were normal in color but had oval pulp chambers with apical extensions into the coronal portions of the roots, large coronal pulp stones, narrow root canals, and thin roots. Individuals in this family who did not have osteogenesis imperfecta had normal teeth. In addition, a well circumscribed radiolucency without a sclerotic periphery, involving the apices of all permanent mandibular incisors, was found in the anterior mandible in one patient. These findings support the hypothesis that this family has yet another type I osteogenesis imperfecta "syndrome".

Adolescent↗
PubMed1988

Pigmented ocular fundus lesions in the inherited gastrointestinal polyposis syndromes and in hereditary nonpolyposis colorectal cancer.

The authors studied pigmented ocular fundus lesions in three different forms of hereditary gastrointestinal polyposis and in hereditary nonpolyposis colorectal cancer. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) was present in at least one member of 23 families with Gardner's syndrome. By contrast, CHRPE was not found in three families with familial polyposis coli, four families with hereditary nonpolyposis colorectal cancer, and three families with Peutz-Jeghers syndrome. Pigmented ocular fundus lesions of the CHRPE-type appear to be specific to Gardner's syndrome among inherited diseases with gastrointestinal polyposis.

Adenomatous Polyposis Coli↗
PubMed1988

Dental and oral abnormalities in selected ectodermal dysplasia syndromes.

Only a brief review of the dental and oral abnormalities in a few ectodermal dysplasia syndromes has been presented. Obviously, careful evaluation of the dentitions of patients suspected to have these disorders will add to our knowledge and assist in diagnosis of this heterogeneous group of genetic diseases.

Dental Enamel Hypoplasia↗
PubMed1987

Occult radiopaque jaw lesions in familial adenomatous polyposis coli and hereditary nonpolyposis colorectal cancer.

The purposes of this study were to determine the association, in 10 pedigrees, between adenomatous polyposis coli, hereditary nonpolyposis colorectal cancer, and occult radiopaque jaw lesions, and to assess whether these radiodensities are predictors for adenomatous polyposis. In seven kindreds with adenomatous polyposis, all patients with polyps had jaw lesions; in one kindred, no jaw lesions were found. In one of two kindreds with hereditary nonpolyposis colorectal cancer, no affected individuals had jaw lesions. In the other, the 1 affected patient with dental radiographs had generalized jaw lesions. Twelve children less than 16 yr old at risk for adenomatous polyposis were observed. Seven children with jaw lesions developed polyps after a mean interval of 4 yr. Five children without jaw lesions were polyp-free during a 5-10-yr follow-up. Thus, occult jaw lesions are consistently found only in some families with adenomatous polyposis coli, providing support for heterogeneity in polyposis syndromes. Jaw lesions are good predictors for polyp development in kindreds with adenomatous polyposis coli and jaw lesions. Their role as markers in hereditary nonpolyposis colorectal cancer needs exploration.

Adenomatous Polyposis Coli↗
PubMed1987

Combined nevi of the oral mucosa.

Pigmented nevi are uncommon oral lesions. We report the clinical and microscopic features of three cases of combined nevus, characterized by the association of an intramucosal nevus and a common blue nevus. Two cases were clinically suspected to be melanoma. The lesions were located on the maxillary gingiva, the mandibular gingiva, and the mucosa of the left posterior portion of the hard palate. Combined nevi of the skin vary considerably in histologic appearance. The microscopic findings demonstrated by oral combined nevi also appear to exhibit substantial histologic variation. The oral combined nevus should be differentiated from malignant melanoma by histopathologic means for, as in the skin, it appears to be clinically benign.

Adult↗
PubMed1987

Single maxillary central incisor and coloboma in hypomelanosis of Ito.

Incontinentia Pigmenti Achromians is a neurocutaneous disorder of uncertain etiology that has been associated with other systemic manifestations including ophthalmologic, musculoskeletal, neurologic and dental abnormalities. Chromosome abnormalities have been documented in some cases but may be coincidental. We describe a 16-month-old black female with an iris coloboma and single central deciduous maxillary incisor in addition to the hypopigmented skin lesions of hypomelanosis of Ito. The combination has not been previously described.

Chromosome Banding↗