RESUMEN
Ectrodactyly has not previously been reported in children with Wolf-Hirschhorn syndrome (WHS). Based on this premise and the identification of an unbalanced translocation between chromosomes 4p15 and 10q25 in a fetus with ectrodactyly and hemimelia, a second locus for dominantly inherited split hand/foot malformation (SHFM3) was mapped to chromosome 10q24-q25. We present the clinical findings of an infant with WHS and SHFM and suggest that the presence of additional loci on 4p which modify/cause SHFM cannot be excluded.
Asunto(s)
Ectromelia/genética , Deformidades Congénitas de la Mano/genética , Cromosomas Humanos Par 10/genética , Cromosomas Humanos Par 4/genética , Femenino , Ligamiento Genético , Humanos , Recién Nacido , Translocación Genética/genéticaRESUMEN
Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants. Finding genes that cause defects in human limb patterning should be straightforward but has been limited, in part, by the bewildering spectrum of phenotypes, which are difficult to separate into etiologically distinct disorders. One approach to the identification of relevant genes is to take advantage of unique extended kindreds in which a defect in limb patterning is segregating. Recently, a large Dutch family with ectrodactyly, ectodermal dysplasia, cleft palate, and urogenital defects (EEC) was described by Maas et al. We have studied this kindred and localized a gene causing EEC to a locus on chromosome 19, in a region defined by D19S894 and D19S416. A second extended kindred with EEC does not map to this locus, indicating that EEC is a genetically heterogeneous disorder. Growth and patterning of the limbs, teeth, hair, and genitourinary system are mediated in part by epithelial-mesenchyme inductive interactions. The identification of both the gene causing EEC and its mutation may further elucidate the general signals mediating inductive mechanisms.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 19 , Mapeo Cromosómico , Fisura del Paladar/genética , Displasia Ectodérmica/genética , Femenino , Ligamiento Genético , Genotipo , Humanos , Deformidades Congénitas de las Extremidades/genética , Masculino , Repeticiones de Microsatélite , Linaje , Síndrome , Anomalías Urogenitales/genéticaRESUMEN
Distal arthrogryposis type 1 (DA1) and Freeman-Sheldon syndrome (FSS) are the two most common known causes of inherited multiple congenital contractures. We recently have characterized a new disorder (DA2B) with a phenotype intermediate between DA1 and FSS. We report the mapping of a gene that causes DA2B to chromosome 11p15.5-pter. Linkage analysis in a single kindred generated a positive LOD score of 5.31 at theta = 0 with the marker D11S922, and recombinants localize the gene to an approximately 3.5-6.5-cM region between the marker TH and the telomere. Analysis of additional families improves the LOD score to 6.45 at theta = 0 and suggests linkage homogeneity for DA2B.
Asunto(s)
Anomalías Múltiples/genética , Artrogriposis/genética , Mapeo Cromosómico , Cromosomas Humanos Par 11 , Femenino , Haplotipos , Humanos , Escala de Lod , Masculino , Linaje , Recombinación Genética , SíndromeRESUMEN
Inhibition of poly(ADP-ribosylation) reduces random genomic integration of transfected DNA and mildly stimulates intrachromosomal homologous recombination in mammalian cells. We investigated the effect of inhibition of poly(ADP-ribosylation) on the efficiency of gene targeting in Chinese hamster ovary (CHO) cell line ATS-49tg. This cell line is hemizygous for a defective adenine phosphoribosyltransferase (aprt) gene and is hypoxanthine phosphoribosyltransferase (hprt) deficient. Plasmid pAG100 contains a portion of the CHO aprt gene sufficient to correct the defect in ATS-49tg cells via gene targeting; pAG100 also contains an Escherichia coli guanine phosphoribosyltransferase (gpt) gene. Following transfection of ATS-49tg cells with pAG100, selection for gpt-positive transfectants allowed recovery of cells that had randomly integrated pAG100 while selection for aprt-positive cells allowed recovery of cells that had undergone gene targeting at the endogenous aprt locus. Treatment of cells with 3 mM 3-methoxybenzamide (3-MB), an inhibitor of poly(ADP-ribose) polymerase, decreased random integration and gene targeting of electroporated pAG100 about 5-fold. In contrast, treatment with 3 mM 3-MB during calcium phosphate transfection could reduce random integration more than 150-fold while reducing gene targeting less than two-fold. Therefore, as much as a 100-fold enrichment for gene targeting was achieved with calcium phosphate transfection.
Asunto(s)
Marcación de Gen/métodos , Poli Adenosina Difosfato Ribosa/metabolismo , Inhibidores de Poli(ADP-Ribosa) Polimerasas , Transfección , Adenina Fosforribosiltransferasa/genética , Adenina Fosforribosiltransferasa/metabolismo , Animales , Benzamidas/farmacología , Southern Blotting , Células CHO , Fosfatos de Calcio/farmacología , División Celular , Cricetinae , Electroporación , Inhibidores Enzimáticos/farmacología , Regulación de la Expresión Génica , Genes Reporteros , Hipoxantina Fosforribosiltransferasa/genética , Hipoxantina Fosforribosiltransferasa/metabolismo , Plásmidos , beta-Galactosidasa/genética , beta-Galactosidasa/metabolismoRESUMEN
Do employees who participate in worksite wellness programs differ from those who do not? What health-related lifestyle behaviors are practiced most frequently by which employees? A descriptive, correlational, comparative design was used to investigate these questions. Four hundred employees at a large public university were selected through stratified random sampling to complete a demographic sheet and the Health Promoting Lifestyle Profile (HPLP). Study findings revealed that men used self-actualization and exercise behaviors more frequently than women. Women practiced more health responsibility behaviors than men. Employees who were members of the wellness program more frequently practiced health responsibility and exercise behaviors than nonmembers. Overall, wellness program members used a greater number of the total health-related behaviors than other employees. Membership in the wellness program and the number of times per week a person exercised explained 21% of the variance in the HPLP scores.
Asunto(s)
Conductas Relacionadas con la Salud , Promoción de la Salud/estadística & datos numéricos , Estilo de Vida , Servicios de Salud del Trabajador/estadística & datos numéricos , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Modelos Psicológicos , Factores Sexuales , Encuestas y CuestionariosRESUMEN
Proteus syndrome (PS) is a congenital disorder manifesting with severe deformities, the salient features being gigantism and vascular tumors. The disorder is poorly understood, and there has been much discrepancy in the terminology regarding the vascular tumors in PS. The purpose of this study was to elucidate the histogenesis of these tumors by correlating microscopic observations with immunohistologic information. The value of immunoperoxidase studies in the pathologic evaluation of PS was also assessed. Fourteen formalin-fixed, paraffin-embedded tissue specimens obtained from vascular tumors of six children with PS were stained with Ulex europaeus agglutinin I (UEA-I) lectin and the following immunohistochemical reagents: anti-factor VIII-related antigen (FVIII-RAg) and anti-CD34. The tumors showed varied proportions of vascular, lipomatous, and fibrous tissue components consistent with vascular hamartomas. The predominant vascular channels of the tumors were morphologically consistent with lymphatic vessels. Immunostaining of the endothelium of these vessels was most consistently positive with UEA-I lectin. Although a color reaction product was present in small vessels and some larger blood vessels, anti-CD34 immunostaining spared the lumens of lymphatic channels. In addition, a striking population of dendritic spindle cells was noted with the anti-CD34 but was unnoticed with the other reagents. We concluded that the vascular tumors of PS are primarily lymphatic hamartomas. The spindle cells noted with anti-CD34 immunostaining may relate to angiogenesis and need further delineation.
Asunto(s)
Hemangioma/patología , Linfangioma/patología , Neoplasias de Tejido Vascular/patología , Síndrome de Proteo/patología , Adulto , Niño , Preescolar , Hemangioma/cirugía , Humanos , Linfangioma/cirugía , Neoplasias de Tejido Vascular/cirugía , Síndrome de Proteo/inmunología , Síndrome de Proteo/cirugíaRESUMEN
This study evaluated the effect of enamel bleaching with a commercial product on the sheer bond strength of a composite resin. A total of 45 human extracted permanent molars were used. A flat enamel surface was obtained with 600-grit SiC paper. The teeth were then randomly distributed into three groups of 15 teeth each: Group 1: Enamel etching with 37% phosphoric acid gel (Coe) for 60 seconds, placement of an unfilled resin (Coe) thinly applied with a brush and a composite resin (Occlusin); Group 2: Enamel bleaching (Rembrandt Lighten Bleaching Gel, Den-Mat) for one hour, etching for 60 seconds and placement of unfilled and composite resins. Group 3: Enamel bleaching for 24 hours, etching for 60 seconds, and placement of unfilled and composite resins. A nylon ring over the etched enamel retained the composite resin. The teeth were thermocycled (X100) and sheared with a knife-edged blade in an Instron machine running at a cross-head speed of 1 mm/min. The results in MPa were: Group 1: 12.86 +/- 4.83, Group 2: 12.33 +/- 2.95, and Group 3: 7.67 +/- 1.98. An ANOVA revealed that Groups 1 and 2 were significantly different from Group 3 (P < 0.001). Fracture within the enamel occurred in 53% in Group 1, 33% in Group 2, and 0% in Group 3. The study reveals that the shear bond strength of composite resins is significantly reduced after enamel bleaching for 24 hours.
Asunto(s)
Resinas Compuestas , Recubrimiento Dental Adhesivo , Esmalte Dental/efectos de los fármacos , Peróxidos/efectos adversos , Blanqueamiento de Dientes/efectos adversos , Urea/análogos & derivados , Análisis de Varianza , Peróxido de Carbamida , Esmalte Dental/química , Combinación de Medicamentos , Humanos , Ensayo de Materiales , Metacrilatos , Poliuretanos , Resistencia a la Tracción , Urea/efectos adversos , UretanoRESUMEN
In this study, the effect of different tooth cleansing methods on shear bond strength of resin composite bonding to enamel was evaluated. The buccal enamel surface of 45 noncarious permanent molars was ground flat to provide a uniform surface to which composite was applied. Care was taken to avoid dentin exposure in this procedure. The teeth were divided randomly into 3 groups of 15 teeth. Group 1 was treated with prophylaxis with a rubber cup and pumice, Group 2 with prophylaxis with a rubber cup and nonfluoridated paste, and Group 3 with prophylaxis with a rubber cup and fluoridated paste. After thermocycling, the samples were sheared in the Instron. Results, in MPa, were: Group 1: 14.70 +/- 4.44, Group 2:15.82 +/- 2.70, and Group 3: 16.41 +/- 5.93. Analysis of variance showed no difference among the three groups.
Asunto(s)
Resinas Compuestas/química , Recubrimiento Dental Adhesivo , Esmalte Dental/ultraestructura , Materiales Dentales/química , Profilaxis Dental/métodos , Pastas de Dientes/química , Fluoruro de Fosfato Acidulado/química , Cariostáticos/química , Análisis del Estrés Dental/instrumentación , Fluoruros/química , Humanos , Ensayo de Materiales , Resistencia al Corte , Silicatos/química , Estrés Mecánico , Temperatura , Factores de Tiempo , Uretano/química , Agua/químicaRESUMEN
The purpose of this study was to evaluate the effect of a fluoridated etching gel on the shear bond strength of a composite resin to enamel. A total of 75 extracted human permanent molars were used. A flat enamel surface was obtained with 600-grit silicon carbide paper and cleaned with a rubber cup and a water slurry of fine flour of pumice. The teeth were randomly distributed into 5 groups of 15 teeth each and etched as follows: group 1: 37% non-fluoridated phosphoric acid gel (Coe) for 60 seconds (control); group 2: 60% phosphoric acid gel with 0.5% NaF (Orthoprep) for 5 seconds; group 3: Orthoprep for 15 seconds; group 4: Orthoprep for 30 seconds; group 5: Orthoprep for 60 seconds. After etching, rinsing and drying, an unfilled resin (Coe Bond) was thinly applied with a brush and cured for 30 seconds. A nylon ring was placed over the area and filled with a light-cured composite resin (Occlusin). The teeth were thermocyled (100x), mounted in plastic cups and plaster, and sheared with a knife-edged blade in an Instron machine running at a crosshead speed of 1 mm/min. The results in MPa were as follows: group 1: 14.49 +/- 4.43; group 2: 10.81 +/- 3.70; group 3: 13.51 +/- 3.21; group 4: 14.79 +/- 3.76; group 5: 15.47 +/- 4.07. An analysis of variance showed that the results in groups 1, 4 and 5 were not significantly different but that the bond strengths in groups 2 and 3 were significantly lower. Fracture within the enamel occurred in 8 specimens in group 1, 5 in group 2, 6 in group 3, 8 in group 4, and 13 in group 5. In the fluoridated etchant groups the number of specimens showing enamel fracture increased as the application time of the etchant increased.
Asunto(s)
Grabado Ácido Dental , Resinas Compuestas , Recubrimiento Dental Adhesivo , Esmalte Dental , Fluoruros Tópicos , Humanos , Ácidos Fosfóricos , Resistencia a la TracciónRESUMEN
A new fluoride dentifrice formulation containing triclosan and a copolymer has been introduced. The purpose of this study was to evaluate the shear bond strength of a resin composite bonded to enamel previously cleaned with this new dentifrice formulation. A total of 45 human extracted permanent molars were used. A flat enamel surface was obtained with 600 grit SiC paper and the teeth randomly distributed into 3 groups of 15 teeth each: Group 1: Pumice prophylaxis with a rubber cup and slow-speed handpiece; Group 2: Prophylaxis with a conventional fluoridated dentifrice (Colgate); Group 3: Prophylaxis with a triclosan/copolymer/NaF dentifrice (Colgate). After prophylaxis, the teeth were acid-etched with a 37% phosphoric acid gel for 30 seconds, rinsed and dried. An unfilled resin (Coe Bond) was thinly applied with a brush and cured for 30 seconds. A nylon ring was placed over the area and filled with a light-cured resin composite (Occlusin). The teeth were thermocycled for 100 cycles, mounted in plastic cups and plaster, and sheared with a knife-edged blade in an Instron running at a crosshead speed of 1 mm/min. The results in MPa were as follows: Group 1: 11.34 +/- 4.57; Group 2: 13.46 +/- 3.60; Group 3: 13.84 +/- 4.33. An ANOVA showed that there was no statistically significant difference among the groups. Fracture within the enamel occurred in 27% in Group 1, 47% in Group 2, and 67% in Group 3. The results support the use of the fluoride dentifrices tested in this study for prophylaxis prior to bonding procedures.
Asunto(s)
Resinas Compuestas , Recubrimiento Dental Adhesivo , Dentífricos , Fluoruros/administración & dosificación , Silicatos , Triclosán , Análisis de Varianza , Profilaxis Dental , Humanos , Ácido Silícico , Resistencia a la TracciónRESUMEN
Granular cell tumors are relatively uncommon soft tissue tumors usually presenting in the skin and subcutaneous tissues or tongue, although many sites have been described. Two cases arising in the extrahepatic biliary tree are described, and the previously reported cases of this rare presentation are reviewed. These tumors may mimic sclerosing cholangitis and cholangiocarcinoma clinically, and occasionally histologically, in this relatively young group of patients. The histogenesis appears to be related to Schwann cells as in granular cell tumors of other sites, evidenced by histologic, immunohistochemical, and electron microscopic findings. Granular cell tumors, albeit rare, should be considered in the differential diagnosis of biliary tract disease in young patients, particularly black women, and are curable by surgical excision.
Asunto(s)
Neoplasias de los Conductos Biliares/patología , Neoplasias de Tejido Muscular/patología , Neoplasias de los Tejidos Blandos/patología , Adulto , Femenino , Humanos , MasculinoRESUMEN
This article describes the breast-feeding patterns found on Montserrat by a survey that interviewed 69 mothers who delivered infants over a 13-month period, from March 1989 through March 1990. The results indicated that 94% of the women breast-fed these children for at least two weeks after delivery; that 70% were still breast-feeding at the time of the interview in March or April 1990; and that principal factors influencing early termination of breast-feeding were the age at which supplementary feeding was commenced and lack of maternal information about why babies appear to reject the breast.