RESUMO
PURPOSE: To describe transesophageal echocardiographic findings in patients presenting with flail mitral valve and to obtain their clinical follow-up. METHODS: From January/93 to March/97, 1675 patients were submitted to transesophageal echocardiogram at our institution; 35 of them were diagnosed as having flail mitral valve and their clinical follow-up was obtained. RESULTS: Thirty-five patients with the diagnosis of flail mitral valve were studied. Mean age was 65 +/- 15 years (12-87) and 27 (77%) were male. The posterior leaflet was involved in 25 (71%) patients. Ruptured chrodae tendineae was present in all but one patient in whom flail mitral valve was due to a very elongated and redundant chordae. The etiology was prolapse and/or mixomatous degeneration in 16 patients, degenerative in 10, ischemic in 5, rheumatic in 4 and endocarditis in 3. Mitral regurgitation was severe in 25 (71%) patients and moderate in 10 (29%). The mean follow-up was 375 +/- 395 days (1 to 1380). Nineteen patients were followed clinically and 16 were submitted to surgery (transesophageal echocardiogram findings were confirmed in all 16). Overall mortality was high (34%). Among the survivors, 17 are in NYHA class I and 6 in class II. CONCLUSION: The diagnosis of flail mitral valve by transesophageal echocardiography is accurate, allowing for the definition of its mechanism and etiology, as well as the evaluation of hemodynamic compromise. The observed high mortality at the time of diagnosis may be related to the severity of the disease causing the flail mitral valve. Although non-operated survivors are doing well, the observed low functional class in these patients may be related to the short period of follow-up.
Assuntos
Ecocardiografia Transesofagiana , Insuficiência da Valva Mitral/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Cordas Tendinosas/diagnóstico por imagem , Cordas Tendinosas/lesões , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Insuficiência da Valva Mitral/etiologia , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
This paper describes odontomicronychial dysplasia, a pure ectodermal dysplasia of the 2-3 subgroup of group A. It is characterised by precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. This condition probably results from an autosomal recessive gene.
Assuntos
Ectoderma/patologia , Doenças da Unha/genética , Anormalidades Dentárias/genética , Adulto , Brasil , Pré-Escolar , Consanguinidade , Dentição , Feminino , Genes Recessivos , Humanos , Masculino , Núcleo Familiar , Linhagem , Portugal/epidemiologia , Razão de MasculinidadeRESUMO
We present a casual review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X-linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion.
Assuntos
Displasia Ectodérmica/classificação , Displasia Ectodérmica/genética , Mapeamento Cromossômico , Displasia Ectodérmica/etiologia , Feminino , Genes Dominantes , Genes Recessivos , Ligação Genética , Humanos , Masculino , Cromossomo XRESUMO
As displasias ectodérmicas formam um grupo de cerca de 150 afecçöes, em geral de natureza genética. A forma mais comum - a síndrome de Christ-Siemens-Touraine - caracteriza-se por febre alta, intermitente na infância, e quando o paciente näo é devidamente atendido, a hipertermia pode conduzi-lo a êxito letal. No Brasil, há pelo menos cerca de 400 homens gravemente afetados por essa síndrome (esse número só näo é maior porque cerca de 50// deles morrem precocemente); o número de mulheres afetadas é maior (cerca de 1.000), mas como nelas, em geral, a afecçäo se manifesta de forma branda, elas costumam passar despercebidas. A desinformaçäo dificulta o diagnóstico e a assistência aos enfermos. Este foi um dos motivos de criarmos, em 1982, o Centro de Estudos de Displasias Ectodérmicas (CEDE), que se constitui no único centro especializado no estudo dessas afecçöes em todo o mundo
Assuntos
Humanos , Masculino , Criança , Displasia Ectodérmica/genéticaRESUMO
Ectodermal dysplasias comprise a group of about 150 diseases, in general of a genetic nature. The most common form--Christ, Siemens, Touraine's Syndrome--is characterized by high intermittent fever in infancy and, when the patient is not properly cared for, the hyperthermia may cause death. In Brazil, there are at least 400 men severely affected by this syndrome (such a number is not higher because approximately 50% of the patients die early) and 1,000 women. In women, however, the syndrome occurs in a mild form, and many go unnoticed. Disinformation renders difficult the diagnosis and treatment of patients. This was the reason that led us to create, in 1982, the Center for the Study of Ectodermal Dysplasias, the only specialized institution of such diseases in the world.
Assuntos
Displasia Ectodérmica/genética , Criança , Displasia Ectodérmica/patologia , Família , Feminino , Humanos , Masculino , FenótipoRESUMO
We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.
Assuntos
Anormalidades Múltiplas/genética , Displasia Ectodérmica/genética , Anormalidades da Boca/genética , Adulto , Consanguinidade , Feminino , Genes Recessivos , Humanos , Deformidades Congênitas dos Membros , Linhagem , SíndromeRESUMO
An apparently hitherto undescribed pure ectodermal dysplasia of the tricho-onychic subgroup is described. Its cause is an autosomal dominant gene with complete penetrance and variable expressivity. Differential diagnosis considered 18 conditions belonging to the same subgroup, as well as Clouston syndrome. This report increases the number of conditions of the tricho-onychic subgroup to 19, and the total number of ectodermal dysplasias to 155.
Assuntos
Displasia Ectodérmica/genética , Hipotricose/genética , Unhas Malformadas/genética , Diagnóstico Diferencial , Displasia Ectodérmica/diagnóstico , Feminino , Genes Dominantes , Humanos , Hipotricose/patologia , Masculino , LinhagemRESUMO
The analysis of the data on 5677 children of 1063 couples from a fourth sample of consanguineous and nonconsanguineous marriages among whites and nonwhites living in the State of Minas Gerais, Brazil led to the following estimates: B (number of abnormal equivalents per gamete) around 0.5; A (morbidity in the non-inbred subsamples) 2-3 percent; B/A 13, 15, and 27 (this suggests that the morbidity disclosed by inbreeding may predominantly represent a mutational load); RR (relative risk) about 2 (this means that among the children of consanguineous marriages there is about double the frequency of abnormalities than in those with nonconsanguineous marriages); AR (attributable risk) for the whole sample about 7% (5% for nonwhites and 15% for whites). These last values show the amount that the frequency of abnormalities would decrease in the population if the risk factor (consanguineous marriages) would be eliminated. AR is higher in whites because the frequency of the risk factor is higher among whites.
Assuntos
Anormalidades Congênitas/epidemiologia , Consanguinidade , Morbidade , Brasil , Humanos , Mutação , RiscoRESUMO
This short review deals with the following problems: 1. frequencies of consanguineous marriages in Brazil; 2. their effects on precocious mortality (from abortions up to and including infant-juvenile mortality) and abnormalities among the survivors; 3. genetic counseling for consanguineous marriages; 4. reduction of the prenatal and post-natal damage in consequence of the abolition of the consanguineous marriages in Brazil.
Assuntos
Consanguinidade , Casamento/estatística & dados numéricos , Brasil/epidemiologia , Anormalidades Congênitas/epidemiologia , Frequência do Gene , Aconselhamento Genético , Humanos , Casamento/tendências , Características de Residência/estatística & dados numéricosRESUMO
We report on 2 sisters and one brother with severe dental anomalies, trichodysplasia, onychodysplasia, and slight skin alterations. Four other relatives have only mild dental anomalies. Differential diagnosis includes 3 other ectodermal dysplasias: hypodontia and nail dysgenesis, dermoodontodysplasia, and trichodermodysplasia with dental alterations. Cause is unknown.
Assuntos
Displasia Ectodérmica/diagnóstico , Unhas Malformadas , Anormalidades da Pele , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Diagnóstico Diferencial , Displasia Ectodérmica/complicações , Displasia Ectodérmica/diagnóstico por imagem , Feminino , Cabelo/anormalidades , Cabelo/diagnóstico por imagem , Humanos , Recém-Nascido , Masculino , Linhagem , Radiografia Panorâmica , Pele/diagnóstico por imagem , Anormalidades Dentárias/diagnósticoRESUMO
Estimates of "relative risks" and "attributable risks" are presented for two Brazilian regions with the lowest (F = 0.00030) and the highest (F = 0.00395) inbreeding levels of the country, and for the whole country (F = 0.00088). The abolition of all consanguineous marriages (from second cousins up to and including uncle-niece/aunt-nephew marriages) in Brazil would eliminate only about 0.22, 3.05, and 0.65% of the "total damage," respectively. "Total damage" is defined as including abortions, miscarriages, stillbirths, infant-juvenile mortality (up to the age of 20 years), and anomalies in the survivors. The reduction of prenatal damage would be 0.11, 1.46, and 0.31%, and that of postnatal damage would be 0.49, 6.65, and 1.36%, respectively.
Assuntos
Consanguinidade , Aborto Espontâneo/genética , Brasil , Anormalidades Congênitas/genética , Feminino , Morte Fetal , Doenças Fetais/genética , Humanos , Recém-Nascido , Masculino , Gravidez , Fatores de RiscoRESUMO
A short review is made on papers by Mendel, Wright, Haldane and Moshinsky, Cotterman, Malécot, Morton et al., and Khoury et al. The accompanying paper applies the two epidemiological approaches of this paper to the Brazilian populations.
Assuntos
Consanguinidade , Genética Populacional , Brasil , HumanosRESUMO
We describe one daughter of a possibly distant consanguineous couple with infantile hypothyroidism, trichodysplasia, dental anomalies, dystrophic nails, skin alterations, otitis media, slight conductive hypoacusia, recurrent respiratory tract infections, and gastroenterologic problems. One of her two sisters presents dental anomalies and trichodysplasia, and had dry skin at birth. Similarity indexes are estimated for our patients in comparison with those described under the acronym ANOTHER syndrome. It is concluded that, in spite of the differences, it is possible that our two patients also present ANOTHER syndrome. The cause is unknown.
Assuntos
Alopecia , Displasia Ectodérmica , Hipo-Hidrose , Hipotireoidismo , Unhas Malformadas , Anodontia , Criança , Feminino , Seguimentos , Humanos , SíndromeRESUMO
We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.
Assuntos
Pálpebras/anormalidades , Hipertricose/complicações , Macrostomia/complicações , Transtornos Psicomotores/complicações , Anormalidades Múltiplas/diagnóstico , Diagnóstico Diferencial , Humanos , Recém-Nascido , Masculino , SíndromeRESUMO
We report on two brothers (in a sibship of three) with partial aniridia, cerebellar ataxia, and moderate mental retardation, with normal G-banded chromosomes. Both present cerebellum hypoplasia; the younger also has congenital pulmonic stenosis. A review of the literature is presented. Cause is unknown, although the possibility of an autosomal recessive gene cannot be ruled out.
Assuntos
Anormalidades Múltiplas/genética , Ataxia Cerebelar/genética , Deficiência Intelectual/genética , Iris/anormalidades , Ataxia Cerebelar/complicações , Criança , Humanos , Deficiência Intelectual/complicações , Masculino , SíndromeRESUMO
A brother and sister, the offspring of first cousins, are described with retinitis pigmentosa, trichodysplasia (hypotrichosis and structural changes), dental anomalies, and onychodysplasia. This is a pure ectodermal dysplasia of the tricho-odonto-onychial subgroup, probably due to an autosomal recessive gene.
Assuntos
Alopecia/genética , Displasia Ectodérmica/genética , Genes Recessivos , Hipotricose/genética , Retinose Pigmentar/genética , Adolescente , Adulto , Feminino , Humanos , MasculinoRESUMO
A quantitative analysis of C bands by densitometric measurements in chromosomes 1, 9, 16, and Y was conducted in Caucasians and Japanese living in Brazil. Sixty normal unrelated subjects (30 males and 30 females) were studied in each racial group. Caucasians presented C bands of chromosomes 1, 9, and 16 larger than Japanese, but, on average, only the difference for C bands of chromosome 9 was statistically significant. In the Japanese, the C band sizes of chromosomes Y were, on average, significantly larger than in the Caucasians. The mean C band size of chromosome 9 and the sum of the three pairs were significantly larger in Caucasian than in Japanese males. The total values of constitutive heterochromatin, sigma (1qh,9qh,16qh,Yq12), did not show significant difference between Caucasian and Japanese males. The relative C band sizes of chromosomes 1, 9, and 16 were, on average, similar in Caucasians and Japanese. No sex difference was found in both racial groups. As regards the heteromorphism, only the values of C bands of chromosome 9 were, on average, significantly larger in Caucasians than in Japanese. Partial inversions were detected only among the Caucasians.
Assuntos
Cromossomos Humanos 1-3 , Cromossomos Humanos 16-18 , Cromossomos Humanos 6-12 e X , Heterocromatina/análise , Cromossomo Y , Adulto , Brasil , Bandeamento Cromossômico , Densitometria , Feminino , Humanos , Japão/etnologia , Masculino , Pessoa de Meia-Idade , Grupos RaciaisRESUMO
Data from two surveys performed in Brazil and involving 5,719 persons have been subdivided into three subsamples (one with cousin and sib controls). The totals led to estimates of B (abnormal equivalents per gamete) around 0.5, of A (the damage in a noninbred population) around 0.01-0.02, and of B/A from 14 to 77. No statistically significant difference was found between whites and nonwhites (mulattoes and Negroes). Inbreeding seems to disclose a predominantly mutational load.