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1.
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.

2.
PloS med ; 11(8): e1001709, Aug. 2018.
Artigo em Inglês | ODS | ID: biblio-1026131

RESUMO

Poor sanitation is thought to be a major cause of enteric infections among young children. However, there are no previously published randomized trials to measure the health impacts of large-scale sanitation programs. India's Total Sanitation Campaign (TSC) is one such program that seeks to end the practice of open defecation by changing social norms and behaviors, and providing technical support and financial subsidies. The objective of this study was to measure the effect of the TSC implemented with capacity building support from the World Bank's Water and Sanitation Program in Madhya Pradesh on availability of individual household latrines (IHLs), defecation behaviors, and child health (diarrhea, highly credible gastrointestinal illness [HCGI], parasitic infections, anemia, growth).


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Análise por Conglomerados , Defecação/fisiologia , Diarreia/prevenção & controle , Anemia/etiologia , Anemia/epidemiologia , População Rural/estatística & dados numéricos , Banheiros/estatística & dados numéricos , Riscos Ambientais , Gastroenteropatias/prevenção & controle , Índia
3.
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.

4.
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
5.
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.

6.
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
7.
J Clin Diagn Res ; 7(6): 1145-7, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23905123

RESUMO

Rhino-orbital mucormycosis is a rare but life threatening infection that generally occurs in patients with diabetes mellitus and other immune deficiency conditions. Rhino-orbital and Rhino-cerebral are two form of the disease. As such the condition is a medical emergency. Early recognition and treatment are essential because it may lead to death in few days. Fungal infection of nasal cavity is uncommon but is being seen with increasing frequency in patients with immune deficiency.

8.
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
9.
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
10.
J Photochem Photobiol B ; 103(1): 16-21, 2011 Apr 04.
Artigo em Inglês | MEDLINE | ID: mdl-21288734

RESUMO

The fluorescence resonance energy transfer (FRET) from tryptophan (Trp) to folic acid (FA) in aqueous sodiumdodecyl sulphate, cetyltrimethyl ammonium bromide, and Brij-35 as well as deionised water was investigated using steady state and time resolved fluorescence techniques. The data obtained from steady state fluorescence spectral studies and time resolved measurement indicated that the FRET from Trp to FA occurred most effectively in aqueous sodium dodecyl sulphate micellar solutions. The distance between Trp and FA were evaluated. Binding constant, number of binding sites and thermodynamic parameters were determined for Trp-FA interactions in deionised water. The values of the thermodynamic parameters suggest that the hydrophobic forces and hydrogen bonding are the key interacting forces between Trp-FA interaction.


Assuntos
Transferência Ressonante de Energia de Fluorescência , Ácido Fólico/química , Micelas , Triptofano/química , Água/química , Absorção , Tensoativos/química , Temperatura , Termodinâmica , Fatores de Tempo
11.
J Colloid Interface Sci ; 355(1): 150-6, 2011 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-21193201

RESUMO

In water/oil systems, surfactants partition between the water phase and the oil phase according to their solubility in both phases. The ratio between the concentration of the surfactant in the oil phase and in the water phase at equilibrium is known as the partition or distribution coefficient (K(p)). The partition coefficient (K(p)) is an important fundamental parameter essential to understanding and controlling phenomena in water-oil-surfactant systems under both equilibrium and non-equilibrium conditions. In the present work we report on the partitioning of three different classes of nonionic surfactants in the pre-cmc regime, namely polyoxyethylene alkyl ethers (C(i)E(j)), alkyl dimethyl phosphine oxides (C(n)DMPO) and alkyl glycosides (ß-C(n)G(m)) between water and different n-alkanes. We focus on the influence of the surfactant's molecular structure (alkyl chain length, head group size and type), and oil chain length on K(p) to derive systematic structure-property relationships. Moreover, we discuss the influence of the surfactant purity on partition coefficients of technical grade alkyl glycosides and polyoxyethylene alkyl ethers, respectively.

12.
Spectrochim Acta A Mol Biomol Spectrosc ; 77(1): 82-6, 2010 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-20547094

RESUMO

Photo-induced intermolecular electron transfer (PET) interaction between excited singlet (S(1)) state of 9-anthracene carboxylic acid (9-ANCA) and DNA bases of pyrimidines as uracil and 5-fluorouracil (5-FU) has been studied in water and ethanol solutions using steady-state fluorescence spectroscopy. The intensity of all emission bands of 9-ANCA was quenched in presence of uracil and 5-FU by electron transfer reaction without formation of an exciplex. It was found that uracil and 5-fluorouracil acts as effective electron donors and simultaneously quench the fluorescence of electron-accepting sensitizer 9-ANCA. The quenching by diffusion-controlled rate coincides well with the dynamic Stern-Volmer correlation. The bimolecular quenching rate constant (k(q)(ss)) and electron transfer rate constant (k(et)) observed are seen to be much higher for 5-fluorouracil than those for uracil. The thermodynamic parameters estimated by using the Rehm-Weller equation were used to propose a suitable mechanism for PET occurring between uracils and 9-ANCA. The proposed method was used to determine 5-fluorouracil from pharmaceutical samples with satisfactory results. The technique is more selective, sensitive and relatively free from coexisting substances.


Assuntos
Antracenos/química , Fluoruracila/análise , Elétrons , Fluorescência , Cinética , Preparações Farmacêuticas/análise , Soluções , Espectrometria de Fluorescência , Termodinâmica
13.
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
14.
Spectrochim Acta A Mol Biomol Spectrosc ; 74(3): 771-5, 2009 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-19733503

RESUMO

Fluorescence (Förster) Resonance Energy Transfer (FRET) between norfloxacin (NF) and p-amino benzoic acid (PABA) has been investigated by fluorescence and UV-vis absorption spectroscopy. It was found that the quenching of fluorescence of PABA is followed by simultaneous sensitization of NF fluorescence. The hydrophobic and electrostatic interaction plays an important role to stabilize the complex. The binding constant (K), binding site number (n) and corresponding thermodynamic parameters like free energy change (DeltaG), enthalpy change (DeltaH) and entropy change (DeltaS) were determined according to van't Hoff equation. Using FRET, the distance (r) between donor (PABA) and acceptor (NF) was obtained. This method is simple, selective and relatively free of interference from co-existing substances. The method was successfully applied to the determination of norfloxacin from pharmaceutical tablets.


Assuntos
Ácido Benzoico/química , Transferência Ressonante de Energia de Fluorescência/métodos , Norfloxacino/análise , Comprimidos/química , Norfloxacino/química , Sensibilidade e Especificidade
15.
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
16.
Am J Gastroenterol ; 96(10): 2957-61, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11693332

RESUMO

OBJECTIVE: Nonalcoholic steatohepatitis (NASH) is a common but poorly understood liver disease. Our aim was to study a large group of patients referred for Hepatology consultation to further characterize this disorder, in particular its demographics and range of severity. We also sought to better understand its etiology and its relationship to the insulin resistance syndrome, known as the metabolic syndrome or syndrome X. METHODS: Retrospective review of 90 patients seen over a 4-yr period. RESULTS: Ninety patients aged 14-70 with NASH seen at the Liver Clinics at either the University of Tennessee or the Medical University of South Carolina. Eleven had complications of portal hypertension and seven of these had undergone or were awaiting transplantation. NASH was seen in nine families either in siblings or in subsequent generations. Diabetes or insulin resistance were present in almost all in this cohort of patients with NASH. Diabetes, hyperlipidemia, hypertension, and atherosclerotic disease, the components of syndrome X, were common in this population. CONCLUSION: NASH affects males and females equally, and presents over a wide age range. Despite its usually benign course, 28% of patients had cirrhosis and almost half of those had complications of portal hypertension, necessitating liver transplantation. Obesity was common in affected patients and cirrhosis was more common in the morbidly obese. Familial clustering was common, with 18% of patients having a similarly affected first degree relative. The clinical features that define syndrome X (diabetes, hypertension, hyperlipidemia, and atherosclerotic disease) are common in affected patients. Studies of glucose tolerance demonstrated unsuspected diabetes in six, and insulin resistance (the hallmark of syndrome X) in 85% of those tested. We hypothesize that NASH is a disorder of genetic etiology and is the hepatic manifestation of syndrome X, the insulin resistance syndrome.


Assuntos
Fígado Gorduroso , Resistência à Insulina , Adolescente , Adulto , Idoso , Complicações do Diabetes , Fígado Gorduroso/complicações , Fígado Gorduroso/genética , Fígado Gorduroso/fisiopatologia , Feminino , Teste de Tolerância a Glucose , Humanos , Masculino , Síndrome Metabólica/complicações , Pessoa de Meia-Idade , Obesidade/complicações , Estudos Retrospectivos , Índice de Gravidade de Doença
17.
Psychiatr Genet ; 11(2): 57-63, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11525418

RESUMO

We examined data from the largest reported sample of autistic individuals who have been karyotyped with the aim of providing additional information in the search for autism disease genes. Individuals seen in the University of Iowa's Child and Adolescent Psychiatry Clinic since 1980 who had been diagnosed with autism were cross-referenced with the University of Iowa's Cytogenetics Laboratory database. We determined the number of individuals referred for cytogenetic testing and, of these, the number found to have gross cytological abnormalities. Medical records were reviewed for all cases with such abnormalities. Between 1980 and 1998, 898 subjects seen in the clinic were diagnosed with autism. Of these, 278 (30.1%) were referred for cytological studies; 25 (9.0%) of these were found to have chromosomal abnormalities. The most common chromosomal abnormalities were Fragile X, other sex chromosome anomalies, and chromosome 15 abnormalities. These data support the contribution of chromosomal abnormalities to a small but significant number of cases of autism, and highlight the involvement of chromosome 15 and the sex chromosomes.


Assuntos
Transtorno Autístico/genética , Transtornos Cromossômicos/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 15/genética , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Transtorno Autístico/epidemiologia , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/psicologia , Cromossomos Humanos Par 15/ultraestrutura , Comorbidade , Epilepsia/epidemiologia , Epilepsia/genética , Feminino , Síndrome do Cromossomo X Frágil/genética , Síndrome do Cromossomo X Frágil/psicologia , Predisposição Genética para Doença , Humanos , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Iowa/epidemiologia , Cariotipagem , Masculino , Estudos Retrospectivos , Transtornos dos Cromossomos Sexuais/epidemiologia , Transtornos dos Cromossomos Sexuais/genética , Transtornos dos Cromossomos Sexuais/psicologia
18.
Am J Hum Genet ; 68(2): 364-72, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11170889

RESUMO

Mutations in the forkhead transcription-factor gene (FOXC1), have been shown to cause defects of the anterior chamber of the eye that are associated with developmental forms of glaucoma. Discovery of these mutations was greatly facilitated by the cloning and characterization of the 6p25 breakpoint in a patient with both congenital glaucoma and a balanced-translocation event involving chromosomes 6 and 13. Here we describe the identification of novel mutations in the FOXC1 gene in patients with anterior-chamber defects of the eye. We have detected nine new mutations (eight of which are novel) in the FOXC1 gene in patients with anterior-chamber eye defects. Of these mutations, five frameshift mutations predict loss of the forkhead domain, as a result of premature termination of translation. Of particular interest is the fact that two families have a duplication of 6p25, involving the FOXC1 gene. These data suggest that both FOXC1 haploinsufficiency and increased gene dosage can cause anterior-chamber defects of the eye.


Assuntos
Câmara Anterior/anormalidades , Proteínas de Ligação a DNA , Anormalidades do Olho/genética , Dosagem de Genes , Fatores de Transcrição/genética , Aberrações Cromossômicas , Cromossomos Humanos Par 6/genética , DNA/química , DNA/genética , Análise Mutacional de DNA , Fatores de Transcrição Forkhead , Duplicação Gênica , Humanos , Dados de Sequência Molecular , Mutação , Mapeamento Físico do Cromossomo
20.
Prenat Diagn ; 20(2): 103-22, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10694683

RESUMO

Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47,+13/46, 17/31 (54%) cases of 47,+18/46, 10/152 (6.5%) cases of 47,+20/46, and in 49/97 (50%) cases of 47,+21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47,+13/46, 52% (11/21) versus 75% (6/8) for 47,+18/46, 4.5% (6/132) versus 20% (4/20) 47,+20/46, and 45% (27/60) versus 59% (22/37) for 47,+21/46. Phenotypically normal liveborns were observed with mean trisomic cell lines of 9.3% for 47,+13/46, 8.6% for 47,+18/46, 27% for 47, +20/46, and 17% for 47,+21/46. Cytogenetic confirmation rates were 46% (6/13 cases) for 47,+13/46 mosaicism, 66% (8/12 cases) for 47, +18/46, 10% (10/97 cases) for 47,+20/46, and 44% (24/54 cases) for 47,+21/46. There were higher confirmation rates in pregnancies with abnormal versus normal outcome: 50% versus 44% for 47,+13/46 mosaicism, 100% versus 33% for 47,+18/46, 66% versus 7% for 47, +20/46, and 55% versus 40% for 47,+21/46. Repeat amniocentesis is not helpful in predicting clinical outcome. It may be considered when there is insufficient number of cells or cultures to establish a diagnosis. Fetal blood sampling may have a role in mosaic trisomy 13, 18, and 21 as the risk for abnormal outcome increases with positive confirmation: 1/5 (20%) normal cases versus 5/8 (62%) abnormal cases. High resolution ultrasound examination(s) is recommended for clinical correlation and to facilitate genetic counselling.


Assuntos
Cromossomos Humanos Par 13 , Cromossomos Humanos Par 18 , Cromossomos Humanos Par 20 , Síndrome de Down/genética , Mosaicismo , Trissomia , Anormalidades Múltiplas/genética , Amniocentese , Líquido Amniótico/citologia , Feminino , Morte Fetal/genética , Retardo do Crescimento Fetal/genética , Cardiopatias Congênitas/genética , Humanos , Cariotipagem , Fenótipo , Gravidez , Resultado da Gravidez
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