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1.
Scott Med J ; 60(1): 13-22, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25428942

RESUMO

BACKGROUND AND AIMS: Femoroacetabular impingement is the abnormal contact of the proximal femur and acetabulum during motion. It causes hip pain and joint degeneration in young patients. This systematic review aims to clarify the clinical effect of arthroscopic femoral osteochondroplasty for cam lesions and to review the available literature for the general medical readership, including providers of primary and secondary care. METHODS AND RESULTS: Electronic databases were searched for studies of arthroscopic femoral osteochondroplasty in primary femoroacetabular impingement. A total of 2618 article titles, 242 abstracts and 33 full text articles were considered. Ultimately nine studies with clinical outcome scores met the inclusion criteria and were included in the qualitative systematic review. Six studies were suitable for meta-analysis using an inverse variance, random effects model (RevMan software). In the nine studies, improvements were seen in Western Ontario and McMaster Universities Osteoarthritis index, Non-arthritic Hip Score and Modified Harris Hip Scores. Across the six studies suitable for meta-analysis (537 patients), a 24-point weighted mean improvement in Non-arthritic hip score was seen. This yielded a large overall effect size of 1.6. CONCLUSION: Arthroscopic femoral osteochondroplasty appears to be a beneficial treatment for primary femoroacetabular impingement, with a large effect size seen across six eligible studies.


Assuntos
Artroscopia , Impacto Femoroacetabular/cirurgia , Fêmur/patologia , Articulação do Quadril/patologia , Artroscopia/métodos , Impacto Femoroacetabular/complicações , Impacto Femoroacetabular/patologia , Impacto Femoroacetabular/fisiopatologia , Humanos , Dor/etiologia , Medição da Dor , Resultado do Tratamento
2.
J Postgrad Med ; 59(1): 25-9, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23525055

RESUMO

BACKGROUND: Calculation of daily calorie needs is extremely essential in several aspects of public health nutrition. AIMS: To check the applicability of the existing equations for the prediction of basal metabolic rate (BMR) for Indian adolescent population and to develop an appropriate equation for the estimation of BMR for Indian adolescent population. MATERIALS AND METHODS: BMR was assessed in 152 healthy, adolescent student aged between 18 and 20 years. BMR is calculated from the measured skinfold parameters. Body density was determined by the equation suggested by Durnin and Wormley using the skinfold parameters (triceps, subscapula, biceps, and SIM). Siri's equation is employed for calculating the percentage of body fat from the body density. Eventually, the BMR is calculated using Cunningham's equation. The actual BMR's were compared with values obtained from published prediction equations that used solely, or in various combinations, measures of height, weight, and age. RESULTS: The equations suggested in the literature (Henry, Schofield, and Cole) are not able to predict the BMRs for Indian adolescent population. Hence, a new equation involving weight of an individual is suggested for Indian adolescent population. CONCLUSIONS: There is a need for generation of appropriate BMR prediction equations for Indian population for various age groups.


Assuntos
Povo Asiático , Metabolismo Basal/fisiologia , Dobras Cutâneas , Estudantes , Adolescente , Adulto , Peso Corporal/fisiologia , Calorimetria Indireta/métodos , Ingestão de Energia , Feminino , Humanos , Índia , Masculino , Modelos Biológicos , Modelos Estatísticos , Valor Preditivo dos Testes , Análise de Regressão , Reprodutibilidade dos Testes , Adulto Jovem
3.
Nat Genet ; 19(2): 140-7, 1998 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-9620769

RESUMO

A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a cluster of tightly linked genes. We have identified two primary congenital glaucoma (PCG) patients with chromosomal anomalies involving 6p25. In order to identify a gene involved in PCG, the chromosomal breakpoints in a patient with a balanced translocation between 6p25 and 13q22 were cloned. Cloning of the 6p25 breakpoint led to the identification of two candidate genes based on proximity to the breakpoint. One of these, FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy. Furthermore, FKHL7 was found to harbour mutations in patients diagnosed with Rieger anomaly (RA), Axenfeld anomaly (AA) and iris hypoplasia (IH). This study demonstrates that mutations in FKHL7 cause a spectrum of glaucoma phenotypes.


Assuntos
Cromossomos Humanos Par 6 , Proteínas de Ligação a DNA/genética , Glaucoma/genética , Fatores de Transcrição/genética , Anormalidades Múltiplas/genética , Sequência de Aminoácidos , Sequência de Bases , Mapeamento Cromossômico , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 2 , Proteínas de Ligação a DNA/fisiologia , Feminino , Fatores de Transcrição Forkhead , Expressão Gênica , Glaucoma/patologia , Humanos , Hidroliases/genética , Masculino , Dados de Sequência Molecular , Linhagem , Fenótipo , Polimorfismo Conformacional de Fita Simples , Alinhamento de Sequência , Fatores de Transcrição/fisiologia , Translocação Genética
4.
Eur J Prosthodont Restor Dent ; 20(2): 92-6, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22852527

RESUMO

Congenitally missing lateral incisors are a common clinical occurrence. Dental Implants have become a primary treatment option for replacement of these teeth. Many times in prosthodontic treatment planning a multidisciplinary approach is needed for a comprehensive out come. Prosthodontic treatment planning is needed prior to the patient's consultation and following treatment acceptance; the prosthodontist may need to coordinate treatment needs with other specialists, including an orthodontist and an implant surgeon. This article describes multidisciplinary management of a case presenting with spaced maxillary anteriors due to the congenitally missing lateral incisors. Treatment consisted of initial orthodontic space management to obtain adequate space for missing lateral incisors. Single piece, narrow diameter implants were placed in edentulous spaces on both sides. Aesthetic crown lengthening procedure was performed with all anterior teeth along with tissues surrounding the implants. Metal-ceramic crowns were given as definitive restorations, resulting into an acceptable aesthetic outcome.


Assuntos
Anodontia/reabilitação , Aumento da Coroa Clínica , Coroas , Implantação Dentária Endóssea , Implantes Dentários para Um Único Dente , Incisivo/anormalidades , Equipe de Assistência ao Paciente , Adolescente , Planejamento de Prótese Dentária , Prótese Dentária Fixada por Implante , Feminino , Humanos , Maxila , Ligas Metalo-Cerâmicas , Mantenedor de Espaço em Ortodontia
5.
Luminescence ; 25(1): 1-8, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-19424966

RESUMO

The fluorescence quenching spectrum of bovine serum albumin (BSA) was investigated in the presence of felodipine (FLD) by spectroscopic methods including fluorescence spectroscopy and UV-Vis absorption spectroscopy. Stern-Volmer quenching was successfully applied and the corresponding thermodynamic parameters, namely enthalpy change (DeltaH), free energy change (DeltaG) and entropy change (DeltaS) at different temperatures (304, 314 and 324 K) were calculated according to the Van't Hoff relation. This revealed that the hydrophobic interaction plays a major role in stabilizing the complex. The fluorescence spectrum of BSA was studied in presence of various concentrations of SDS surfactant. The distance (r) between donor (BSA) and acceptor (FLD) was obtained according to fluorescence resonance energy transfer (FRET). The synchronous fluorescence spectroscopy was used to investigate the effect of FLD on BSA molecule. The result shows that the conformation of BSA was changed in the presence of felodipine.


Assuntos
Felodipino/química , Soroalbumina Bovina/química , Animais , Sítios de Ligação , Bovinos , Transferência de Energia , Fluorescência , Estrutura Molecular , Espectrometria de Fluorescência , Tensoativos/química , Termodinâmica
6.
J Family Med Prim Care ; 9(9): 4869-4874, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33209814

RESUMO

BACKGROUND: The launch of the National Rural Health Mission (NRHM) gives us the opportunity to review the functioning and bring up the Community Health Centers (CHC) services to the level of Indian Public Health Standards and thus improve the lives of citizens. OBJECTIVES: Assessment of the gaps in the facilities available at Community health centers/Rural hospitals as per Indian Public health standards. METHODS: Facility based cross-sectional study was conducted in the Satara district of Maharashtra. RESULTS: This study in the majority showed that the gap in the delivery of healthcare according to IPHS. It was observed that the Funded CHCs had a better quality of services than the non-funded CHCs. The non-funded CHCs lacked essential emergency services. Along with ANC care, newborn care in the first few minutes of life is very crucial, but very little priority was given to the newborn care as those services were not as per norms. Specialists as well as paramedical and other support staff are deficient in both funded and non funded CHCs/rural hospitals (RHs). CONCLUSION: Standards were greatly influenced by funds delivered by IPHS itself. A staffing pattern is one of the important pillars in delivering various health services. A better salary, working place with continuous water supply, electricity, and cleanliness will improve the staffing pattern. Therefore, competent manpower and well-built infrastructure will help in the standard delivery of healthcare at CHC/RH and will thus serve the purpose of dispensing basic health services to every individual in the remotest areas.

7.
Science ; 173(3999): 821-2, 1971 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-4105987

RESUMO

Differential staining of human chromosomes can be obtained when the pH of Giemsa stain is changed to 9.0 from the usual 6.8. Such staining permits identification of all homolog pairs and distinct regions within chromosome arms. In most instances, the pattern is quite similar to that obtained with quinacrine mustard fluorescence staining. Certain regions, such as the paracentric constrictions in chromosomes Al and C9, and the distal end of the long arm of the Y chromosome stain differently with the Giemsa 9 technique. The technique is considerably simpler than the quinacrine mustard fluorescence technique and identification of homologs is also easier than in cells stained by the latter.


Assuntos
Cromossomos , Cariotipagem , Coloração e Rotulagem , Soluções Tampão , Corantes Fluorescentes , Humanos , Concentração de Íons de Hidrogênio , Métodos , Quinacrina
8.
J Family Med Prim Care ; 7(6): 1439-1445, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30613539

RESUMO

BACKGROUND: Adolescence has been recognized as a special period that requires specific attention as it marks the onset of menarche, an important milestone, and hence good hygienic practices during menstruation are crucial to maintain a healthy life. AIMS AND OBJECTIVES: This study was planned to assess knowledge, beliefs, and source of information regarding menstruation, and also to assess hygiene among them. MATERIALS AND METHOD: A cross-sectional study was carried out in urban slum area. Data were collected using pre-tested proforma during the period of 1st June to 31th August 2017. Among the 100 adolescent girls, 72% were between 15 and 19 years. A maximum of 47% were having high school education. About 47% mothers were illiterate; 27% girls had menarche at 14 years and 82% had regular cycles. About 76% had no knowledge of menses before menarche. The source of information was mother in 84%. Only 16% girls commented that bleeding initiated in uterus. About 60% girls used sanitary pad and the rest used cloth pieces. About 22% used water and no soap for hand washing. Multiple restrictions were practiced. CONCLUSION: This study reported that menstrual hygiene was unsatisfactory among adolescent girls. Therefore, girls should be educated about the facts of menstruation and proper hygienic practices.

9.
Mol Cell Biol ; 3(9): 1634-47, 1983 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-6633534

RESUMO

An enrichment selection method using repeated pulses of low drug concentration (1 microgram/ml) was used to isolate CHO (AK412) variants that are 20-fold more resistant to cytochalasin D (CD). CD-resistant (CydR) variants possess a unique unstable phenotype, including a longer doubling time in nonselective medium, a higher frequency of multinucleate cells in the population (probably due to a defect in cytokinesis), an altered morphology, and increased resistance or sensitivity to a number of unrelated drugs. In each of two variant lines examined cytologically, this multiple phenotype is associated with a small homogeneously staining region on chromosome 1. The homogeneously staining region is present in the CydR variants, but absent both in the CD-sensitive parent and in a CD-sensitive revertant subpopulation. Studies of CD-displaceable binding of [3H]cytochalasin B show a fourfold reduction in CD binding or uptake when whole cells of the variant line were examined. Lactoperoxidase-catalyzed iodination and metabolic labeling with [H3]fucose of cell surface proteins of the CydR variants showed multiple differences in electrophoretic band migration when compared with parental proteins.


Assuntos
Mapeamento Cromossômico , Resistência a Medicamentos , Animais , Linhagem Celular , Bandeamento Cromossômico , Cricetinae , Cricetulus , Citocalasina D , Citocalasinas/metabolismo , Citocalasinas/farmacologia , Feminino , Amplificação de Genes , Ovário , Fenótipo
10.
Cancer Res ; 40(11): 4076-80, 1980 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-7471052

RESUMO

Two patients developed acute bone marrow cancer following mastectomy and institution of alkylating agents as adjuvant chemotherapy. An aneuploid condition was observed in both cases, along with involvement of chromosomes 11 and 12 in structural rearrangements. Subsequent studies of 18 patients who had or had not received such therapy showed no evidence of chromosomal aberrations. However, the long-term effect of adjuvant chemotherapy in cancer patients is still of concern until additional information becomes available.


Assuntos
Neoplasias da Mama/genética , Melfalan/efeitos adversos , Adulto , Idoso , Medula Óssea/ultraestrutura , Neoplasias da Mama/tratamento farmacológico , Aberrações Cromossômicas , Feminino , Humanos , Pessoa de Meia-Idade , Pancitopenia/induzido quimicamente
11.
Cancer Res ; 58(18): 4173-9, 1998 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-9751631

RESUMO

Advances in the treatment of acute myeloid leukemia (AML) have occurred with the introduction of new therapies including high-dose cytarabine and the identification of powerful prognostic factors such as cytogenetics that predict for long-term outcome. To date, the prognostic impact of cytarabine dose escalation within various cytogenetic groups of AML has not been assessed. We describe 285 newly diagnosed patients with primary AML who had adequate karyotypes and were enrolled on a prospective Cancer and Leukemia Group B cytogenetic study. All patients were randomly assigned to postremission treatment with standard-, intermediate-, or high-dose cytarabine intensification. Patients were categorized to one of three cytogenetic groups: (a) core binding factor type [(CBF); ie., t(8;21) inv(16), t(16;16), and del(16)]; (b) normal; and (c) other abnormality karyotype. An evaluation of these patients after a median follow-up time of over 7 years was performed to determine the relationship of intensification to outcome by cytogenetic group. Patients included 57 patients with CBF AML, 140 patients with normal karyotype AML, and 88 patients with other cytogenetic abnormalities. The treatment outcome of CBF AML patients was superior, with an estimated 50% still in complete remission (CR) after 5 years as compared with 32 and 15% for patients with normal karyotype AML and other abnormality AML, respectively (P < 0.001). Univariate analysis showed the following nonkaryotype factors to predict a prolonged CR duration: (a) younger age (P < 0.008); (b) lower leukocyte count (P=0.01); (c) the presence of Auer rods (P=0.004); (d) a lower percentage of bone marrow blasts (P=0.001) at the time of diagnosis, (e) and a higher postremission cytarabine dose (P < 0.001). The impact of cytarabine dose on long-term remission was most marked (P < 0.001) in the CBF AML group (after 5 years, 78% of those with a dose of 3 g/m2 were still in CR, 57% of those with a dose of 400 mg/m2 were still in CR, and 16% of those with a dose of 100 mg/m2 were still in CR) followed by normal karyotype AML (P=0.01; after 5 years, 40% of those with a dose of 3 g/m2 were still in CR, 37% of those with a dose of 400 mg/m2 were still in CR, and 20% of those with a dose of 100 mg/m2 were still in CR). In contrast, cytarabine at all doses produced only a 21% or less chance of long-term continuous CR for patients with other cytogenetic abnormalities. A multivariate analysis of CR duration assessed the independent impact of each of these variables on cure. Significant factors entering this model in descending order of importance were cytogenetic group (CBF > normal > other abnormality; P=0.00001), cytarabine dose (3 g/m2 > 400 mg/m2 > 100 mg/m2; P=0.00001), logarithm of leukocyte count at the time of diagnosis (P=0.0005), and histological subtype of AML (P=0.005). This study demonstrates that the curative impact of cytarabine intensification varies significantly among cytogenetic groups and results in a substantial prolongation of CR among patients with CBF and normal karyotypes, but not in those with other karyotypic abnormalities. These findings support the use of pretreatment cytogenetics in risk stratification of postremission AML therapy.


Assuntos
Antimetabólitos Antineoplásicos/administração & dosagem , Citarabina/administração & dosagem , Leucemia Mieloide/tratamento farmacológico , Doença Aguda , Adolescente , Adulto , Análise de Variância , Estudos de Coortes , Daunorrubicina/administração & dosagem , Feminino , Humanos , Cariotipagem , Leucemia Mieloide/genética , Leucemia Mieloide/mortalidade , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Indução de Remissão , Resultado do Tratamento
12.
Transbound Emerg Dis ; 63(5): e412-8, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25598289

RESUMO

Bluetongue (BT) is an arthropod-borne viral disease mostly of sheep. Bluetongue virus (BTV) is a segmented double-stranded RNA virus belonging to the genus Orbivirus of family Reoviridae and is transmitted by midges belonging to Culicoides spp. The disease is endemic in the tropics and subtropics, and the incidence is high in southern India. Twenty-six serotypes of BTV have been reported worldwide. Although most of the serotypes have been reported in India, information regarding currently circulating serotypes is essential to develop control programs. Both serological assays and nucleic acid-based assays have been used for typing BTV. Segment 2, which codes for the outer capsid protein VP2, is the target for PCR-based typing; however, the VP2 sequence diversity among viruses belonging to the same serotype but isolated from different geographical areas makes it essential to develop geographical based reagents. In this study, reverse transcription PCR was developed based on sequences of Indian isolates of BTV (serotypes 1, 2, 9, 10, 12, 16, 21 and 23), and this was applied to type 52 isolates obtained during the last decade. It was found that multiple serotypes circulate, with involvement of more than one serotype infecting individual animals and herds over a period in a given area. Detection of circulating serotypes and estimation of herd immunity against different serotypes of BTV may provide important information for predicting the distribution of these serotypes and inclusion of serotypes in vaccines.


Assuntos
Vírus Bluetongue/genética , Animais , Índia , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Sorotipagem , Ovinos
13.
J Clin Oncol ; 15(2): 466-75, 1997 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-9053467

RESUMO

PURPOSE: To examine the prognostic significance of extramedullary leukemia (EML) at presentation in patients with t(8;21)(q22;q22) karyotype. PATIENTS AND METHODS: Consecutive patients with t(8;21) treated on Cancer and Leukemia Group B de novo acute myeloid leukemia (AML) treatment studies were examined for the presence of EML (granulocytic sarcoma, subcutaneous nodules, leukemia cutis, or meningeal leukemia) at initial presentation. Clinical features and outcome of t(8;21) patients with and without EML were compared. RESULTS: Of 84 patients with t(8;21), eight (9.5%) had EML manifesting as granulocytic sarcoma (five paraspinal, one breast, and one subcutaneous) or symptomatic meningeal leukemia (n = 1). The pretreatment prognostic variables of t(8;21) patients with and without EML were similar. The hematologic complete remission (CR) rate for t(8;21) patients with EML was 50% versus 92% for those without EML (P=.006). The median CR duration for EML patients was 14.7 months. Patients with EML had a shorter survival (P = 0.002, median 5.4 months versus 59.5 months). This poor outcome may relate to inadequate local (radiation or intrathecal) therapy for patients with spinal or meningeal EML, resulting in residual/recurrent EML following induction chemotherapy (n = 2) or at relapse (n = 1) and permanent neurologic deficits (n = 4). Only one of the EML patients received high-dose cytarabine (HDAC) intensification; this is the only EML patient remaining alive in CR. CONCLUSION: Patients with t(8;21) and EML have a low CR rate and overall survival. An aggressive local and systemic induction therapy should be considered for this patient subset. The effectiveness of HDAC intensification in t(8;21) patients with EML is uncertain and warrants further study.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Cromossomos Humanos Par 21 , Cromossomos Humanos Par 8 , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/genética , Leucemia/tratamento farmacológico , Leucemia/genética , Neoplasias Primárias Múltiplas/tratamento farmacológico , Neoplasias Primárias Múltiplas/genética , Adulto , Idoso , Neoplasias da Mama/genética , Feminino , Humanos , Cariotipagem , Masculino , Neoplasias Meníngeas/genética , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Indução de Remissão , Análise de Sobrevida , Translocação Genética , Resultado do Tratamento
14.
Exp Hematol ; 12(9): 717-9, 1984 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-6386509

RESUMO

Ten patients with chronic granulocytic leukemia in the stable phase underwent marrow transplantation from HLA-identical siblings (nine cases) or an identical twin (one case) following preparation with cytarabine, cyclophosphamide, and total body irradiation. Marrow cytogenetics on all patients prior to transplantation revealed the Philadelphia chromosome without other evidence of aneuploidy. The immediate posttransplant course was in most cases relatively uncomplicated with only two serious infections and one death. All patients recovered with cytogentically normal marrow and leukemia has recurred only in the syngeneic transplant recipient. At present, nine patients are surviving from 358 to 961 days (median 597 days) after bone marrow transplantation. Bone marrow transplantation is capable of eliminating the abnormal clone of myeloid cells in patients with stable-phase chronic granulocytic leukemia and can be performed relatively safely in this "healthy" group of patients.


Assuntos
Transplante de Medula Óssea , Leucemia Mieloide/terapia , Adolescente , Adulto , Ciclofosfamida/uso terapêutico , Citarabina/uso terapêutico , Feminino , Seguimentos , Doença Enxerto-Hospedeiro/prevenção & controle , Antígenos HLA/análise , Humanos , Terapia de Imunossupressão , Leucemia Mieloide/radioterapia , Masculino , Pessoa de Meia-Idade , Transplante Homólogo
15.
Sci Rep ; 5: 10712, 2015 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-25991076

RESUMO

Hexagonal boron nitride (hBN) is drawing increasing attention as an insulator and substrate material to develop next generation graphene-based electronic devices. In this paper, we investigate the quantum transport in heterostructures consisting of a few atomic layers thick hBN film sandwiched between graphene nanoribbon electrodes. We show a gate-controllable vertical transistor exhibiting strong negative differential resistance (NDR) effect with multiple resonant peaks, which stay pronounced for various device dimensions. We find two distinct mechanisms that are responsible for NDR, depending on the gate and applied biases, in the same device. The origin of first mechanism is a Fabry-Pérot like interference and that of the second mechanism is an in-plane wave vector matching when the Dirac points of the electrodes align. The hBN layers can induce an asymmetry in the current-voltage characteristics which can be further modulated by an applied bias. We find that the electron-phonon scattering suppresses the first mechanism whereas the second mechanism remains relatively unaffected. We also show that the NDR features are tunable by varying device dimensions. The NDR feature with multiple resonant peaks, combined with ultrafast tunneling speed provides prospect for the graphene-hBN-graphene heterostructure in the high-performance electronics.

16.
J Thromb Haemost ; 2(3): 437-40, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15009460

RESUMO

Hemophilia B is an X-linked bleeding disorder caused by the deficiency of coagulation factor (F)IX, with an estimated prevalence of 1 in 30 000 male births. It is almost exclusively seen in males with rare exceptions. We report a girl who was diagnosed with severe (<1%) FIX deficiency at 4 months of age. Cytogenetic studies in the patient showed a balanced translocation between one of the X-chromosomes and chromosome 14, with breakpoints at bands Xq27.1 and 14q32.3. Both parents were found to have normal chromosomes. Late replication studies by incorporation of 5-bromodeoxyuridine showed non-random inactivation of the normal X-chromosome, a phenomenon frequently seen in balanced X/autosome translocations. To map the breakpoint, fluorescent in-situ hybridization was performed. A PAC DNA probe, RP6-88D7 (which contains the FIX gene) hybridized only on the normal chromosome X as well as onto the derivative 14. Using a PAC DNA probe, RP11-963P9 that is located proximal to the FIX gene, we obtained signals on the normal and derivative X and also on the derivative 14. We conclude that the breakpoint is located within the DNA sequence of this clone mapping proximal to the FIX gene. Since the FIX gene seems to be intact in the derivative 14, the breakpoint may affect an upstream regulatory sequence that subjects the gene to position effect variegation (PEV).


Assuntos
Cromossomos Humanos Par 14/genética , Cromossomos Humanos X/genética , Fator IX/genética , Hemofilia B/genética , Translocação Genética , Criança , Mapeamento Cromossômico , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem
17.
Am J Med Genet ; 14(3): 453-60, 1983 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-6859097

RESUMO

Trisomy 12 mosaicism was found in a 36-year-old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a "complete" trisomy 12 in a liveborn individual.


Assuntos
Cromossomos Humanos 6-12 e X , Mosaicismo , Trissomia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Adulto , Feminino , Humanos , Músculos/patologia , Atrofia Muscular/etiologia , Atrofia Muscular/genética
18.
Am J Med Genet ; 85(3): 230-5, 1999 Jul 30.
Artigo em Inglês | MEDLINE | ID: mdl-10398234

RESUMO

We describe a three-generation family in which X-linked mental retardation (XLMR) is associated with minor facial anomalies and brachydactyly. Two brothers and four nephews have "coarse" facial appearance, brachydactyly with widening of the distal phalanges, short stature, and moderate mental retardation. The three obligate carrier women have normal intelligence and normal physical findings. The results of linkage analysis carried out in 1988 using restriction fragment length polymorphisms (RFLPs) were suggestive of linkage to DXYS1 and DXS101 in proximal Xq (Zmax = 1.63 at straight thetamax = 0.0) [Carpenter et al., 1988: Am J Med Genet 43:A139]. The family was restudied with 16 microsatellite loci from Xp11.4 through Xq24. Linkage analysis demonstrated significant linkage to DXS1003, ALAS2, AR, DXS986, DXS990, DXS454, DXS1106, DXS1105, and DXS1220 from Xp11.3 to Xq23 (Zmax = 2.53 at straight thetamax = 0.0). Recombinations detected between MAOB and DXS1055 and between DXS1220 and DXS1001 place the disease locus between Xp11.3 and Xq23. Among the genes known to map to this region is the XNP gene for the alpha-thalassemia/mental retardation syndrome (ATR-X). This fact, along with the phenotypic similarity between our patients and ATR-X males, led us to consider XNP as a candidate gene for this family. X-inactivation studies provided further evidence for the involvement of XNP by showing completely skewed X-inactivation patterns in the three obligate carrier females, a pattern characteristic of carriers of XNP mutations.


Assuntos
Anormalidades Múltiplas/genética , Deficiência Intelectual/genética , Cromossomo X/genética , Mapeamento Cromossômico , DNA/genética , Face/anormalidades , Saúde da Família , Feminino , Ligação Genética , Transtornos do Crescimento , Deformidades Congênitas da Mão , Humanos , Deficiência Intelectual/complicações , Escore Lod , Masculino , Repetições de Microssatélites , Linhagem , Síndrome
19.
Am J Med Genet ; 39(1): 102-5, 1991 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-1867252

RESUMO

We observed a pericentric inversion of chromosome 6 in three generations of one family. Carriers had several phenotypic alterations including congenital cataracts, hearing loss, dental anomalies, ear anomalies, premature graying, unilateral strabismus, coloboma, and mild mental retardation. These manifestations may all be explained by a failure or delay in development of tissues derived from neural crest cells and are similar to these seen in the Rieger syndrome. The description of this family extends the known phenotypic abnormalities associated with alterations of chromosome 6.


Assuntos
Anormalidades Múltiplas/genética , Inversão Cromossômica , Cromossomos Humanos Par 6/ultraestrutura , Feminino , Aconselhamento Genético , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo
20.
Am J Med Genet ; 4(4): 313-21, 1979.
Artigo em Inglês | MEDLINE | ID: mdl-539601

RESUMO

We describe a pentasomy X (49,XXXXX) patient whose multiple dislocations led to a consideration of the Larsen syndrome. Review of the 11 reported cases of pentasomy X showed that elbow dislocations are known to occur in this syndrome. Our patient is the first to present hypoplasia of the glenoid process with consequent should dislocation. Clinical and radiologic findings of previously reported cases of pentasomy X are reviewed.


Assuntos
Luxações Articulares/genética , Aberrações dos Cromossomos Sexuais/diagnóstico , Anormalidades Múltiplas/diagnóstico , Criança , Diagnóstico Diferencial , Feminino , Humanos , Deficiência Intelectual/genética , Luxação do Ombro/genética , Síndrome , Cromossomo X
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