Objectives: To assess the prevalence of genital abnormalities among neonates in two public maternity-schools. Methods:Case-control, cross-sectional descriptive study. Genital morphology of 2,916 neonates was assessed using a clinical protocol between 04/19/2010 and 04/18/2011. Control group included neonates without birth defects, born at the same maternity unit and in the same day in which a case was identified. Fisher and Kruskal-Wallis tests were used for statistics. Results:The study identified 29 (1:100) neonates with genital abnormalities. Most of them were examined within 3 days of life and presented only one genital defect. Morphological abnormalities comprised: genital ambiguity (1/29), fusion of labia majora (1/29), micropenis (2/29), enlarged clitoris (6/29), hypospadia (9/29), and combined defects (4/29). Only one case reported the genital abnormality in the statement of live birth correctly. Prematurity occurred in 13/29 cases and was the only variable statistically associated with genital defects. Eight cases agreed on the complementary investigation of the genital defect, among which three were diagnosed with disorder of sex development. Conclusions:There is a high prevalence of genital abnormalities in the maternity units included in the present study and most cases are under-diagnosed and under-reported. Our results reinforce the importance of a careful examination of genital morphology in neonatal period towards the recognition of minor defects that can be clinical features of a disorder of sex development.J Pediatr (Rio J). 2012;88(6):489-95: Genital abnormality, neonatal screening, disorders of sex development. ResumoObjetivos: Avaliar a prevalência e descrever alterações da morfologia genital em recém-nascidos em duas maternidades-escola de gestão pública. Métodos:Estudo caso/controle, descritivo, transversal. Utilizou-se protocolo clínico para avaliação da morfologia genital de 2.916 recém-nascidos entre 19/04/2010 e 18/04/2011. O grupo controle foi formado pelos nascimentos sem anormalidades morfológicas ocorridos no dia e na maternidade em que o caso foi detectado. Teste exato de Fisher foi utilizado para análises de variáveis categóricas, e de Kruskal-Wallis, para igualdade de médias. Resultados:Foram detectados 29 recém-nascidos com anormalidade genital (1:100). A maioria (93,2%) foi examinada nos três primeiros dias de vida e apresentava apenas uma anormalidade. Os defeitos morfológicos compreenderam: ambiguidade genital evidente (1/29), fusão posterior de grandes lábios (1/29), micropênis (2/29), clitoromegalia (6/29), criptorquidia bilateral (6/29), hipospádia (9/29) e defeitos combinados (4/29) casos. Em apenas um caso os campos da Declaração de Nascido Vivo foram preenchidos corretamente. Prematuridade foi observada em 13/29, sendo esta a única variável estatisticamente associada à presença de anormalidade genital. Oito casos aderiram à proposta de investigação complementar, entre os quais três tiveram diagnóstico clínico de distúrbio da diferenciação do sexo. Conclusões:Ev...
RESUMO.Este estudo busca compreender as concepções atribuídas por algumas mulheres ao processo de adoecimento por Lúpus Eritematoso Sistêmico (LES). Foram entrevistadas nove mulheres que realizaram tratamento no ambulatório de reumatologia de um hospital universitário do Nordeste Brasileiro. Os dados obtidos foram organizados, a partir da análise de conteúdo, em cinco temas-eixo: O início da doença; Corpo e lúpus; O tratamento; Lúpus e suas causas; e Discurso médico e o Lúpus. Para interpretação dos dados foi utilizada a teoria psicanalítica, especialmente as concepções de corpo e adoecimento. Os resultados indicaram que o adoecimento por Lúpus promove estranhamento, acometendo o corpo e sua imagem e causando angústia. Não obstante, com o decorrer do tratamento essas mulheres passaram a se reconhecer na condição de doente crônico. Tal condição é compreendida por elas a partir de referenciais simbólicos do discurso médico que auxiliam na constituição de uma nova imagem corporal e provocam modificações nos modos de vida. Palavras-chave: Distúrbios imunológicos; mulheres; psicanálise. CONCEPTIONS ATTRIBUTED BY THE WOMEN TO THE DISEASE PROCESS FOR LUPUSABSTRACT. This study aims to understand the concepts attributed by women to the disease process of Systemic Lupus Erythematosus (SLE). We have interviewed nine women who were undergoing treatment at the outpatient rheumatology clinic of a university hospital in the Northeast of Brazil. The collected data was organized, based on content analysis, in five axis: disease onset; body and Lupus; the treatment; Lupus and its causes; medical discourse and Lupus disease. As for interpreting the data, psychoanalytic theory was used with that aim, especially its conceptions of body and illness. Results indicated that the Lupus disease process leads to estrangement, affecting the body and its image and causing anguish. Nevertheless, with the course of treatment, these women began to recognize themselves in a condition of chronic patient. This condition is understood by them from the symbolic references provided by medical discourse which aids in the assemblage of a new body image and provokes changes in their lifestyles. Keywords: Immunologic disorders; women; psychoanalysis. CONCEPCIONES ATRIBUIDOS POR MUJERES AL PROCESO DE LA ENFERMEDAD POR LUPUSRESUMEN. Este estudio busca comprender los conceptos atribuidos por las mujeres, al proceso de la enfermedad de Lupus Eritematoso Sistémico (LES). Fueron entrevistadas nueve mujeres que realizaban tratamiento en un ambulatorio de reumatología de un Hospital Universitario en el noreste brasileño. Los datos fueron organizados a partir del análisis de contenido, en cinco temas-ejes: El principio de la enfermedad; Cuerpo y Lupus; El tratamento; Lupus y sus causas y; El discurso médico y el Lupus. Para interpretar de los datos fue utilizada la teoría psicoanalítica, especialmente las concepciones del cuerpo y la enfermedad. Los resultados indicaron que la enfermedad por Lupus promueve lo estrañamiento, que afecta el cuerpo y su imagen y que ...
Objective: To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service.Methods:Cross-sectional study of 1068 medical records of patients treated between April/2008 and August/2014. A total of 115 cases suggestive of genitourinary anomalies were selected, regardless of age. A standardized clinical protocol was used, as well as karyotype, hormone levels and genitourinary ultrasound for basic evaluation. Laparoscopy, gonadal biopsy and molecular studies were performed in specific cases. Patients with genitourinary malformations were classified as genitourinary anomalies (GUA), whereas the others, as Disorders of Sex Differentiation (DSD). Chi-square, Fisher and Kruskal–Wallis tests were used for statistical analysis and comparison between groups.Results:80 subjects met the inclusion criteria, 91% with DSD and 9% with isolated/syndromic GUA. The age was younger in the GUA group (p<0.02), but these groups did not differ regarding external and internal genitalia, as well as karyotype. Karyotype 46,XY was verified in 55% and chromosomal aberrations in 17.5% of cases. Ambiguous genitalia occurred in 45%, predominantly in 46,XX patients (p<0.006). Disorders of Gonadal Differentiation accounted for 25% and congenital adrenal hyperplasia, for 17.5% of the sample. Consanguinity occurred in 16%, recurrence in 12%, lack of birth certificate in 20% and interrupted follow-up in 31% of cases.Conclusions: Patients with DSD predominated. Ambiguous genitalia and abnormal sexual differentiation were more frequent among infants and prepubertal individuals. Congenital adrenal hyperplasia was the most prevalent nosology. Younger patients were more common in the GUA group. Abandonment and lower frequency of birth certificate occurred in patients with ambiguous or malformed genitalia. These characteristics corroborate the literature and show the biopsychosocial impact of genitourinary anomalies.
Resumo O artigo apresenta o estatuto do segredo familiar como forma de enfrentamento ao diagnóstico de ambiguidade genital de uma criança. O estudo de caso, realizado a partir da escuta clínica de base psicanalítica, evidenciou a experiência destes pais frente à condição da ambiguidade genital, de forma particular e única. Destaca-se o modo como cada um tenta assimilar o real desta condição genética a partir de um segredo familiar estabelecido entre os pais e o irmão mais velho do paciente. 306 Artigo Introdução A formação ou definição do sexo biológico no ser humano é determinada geneticamente no período fetal. Segundo Maciel-Guerra e Guerra-Junior (2010), o sexo genético é determinado na fertilização pela combinação cromossômica que designará a qual sexo biológico a criança pertence, Recebido em outubro/2017. Aceito em setembro/2018.
Este artigo aborda a especificidade do sintoma na psicanálise a partir da análise de um caso clínico sobre anorexia. Delimitam-se aspectos do caso que retratam a clínica do mal-estar contemporâneo a partir dos seguintes temas-eixo: anorexia e adolescência; recusa alimentar; a relação com o pai; e, psicanálise e medicina. Levando-se em consideração tais aspectos, destaca-se a anorexia como sintoma analítico a depender da constituição de uma demanda de análise e da relação transferencial.
Cet article présente une réflexion sur l'étiologie et le traitement de la douleur chronique dans le cadre théorique de la psychanalyse et discute de la réduction de la douleur chronique à une manifestation contemporaine de l'hystérie. Considérant que le symptôme est un singulier mode de jouissance et un moyen pour l'inscription du sujet dans le lien social, ce texte met en évidence la fonction de la douleur, en conformité avec les particularités de chaque cas.
RESUMO:Nos últimos anos, tem-se observado um aumento no número de cirurgias bariátricas realizadas no Brasil. No entanto, verifica-se, na clínica da obesidade, a ocorrência de reganho de peso no período pós-cirúrgico. Com objetivo de analisar a ocorrência do reganho de peso em um hospital público do Nordeste, foi realizado o estudo de caso de um Programa de Cirurgia Bariátrica, com base no registro de prontuários dos pacientes operados em 10 anos de funcionamento do Serviço. Durante o período de três meses de coleta de dados foi possível ter acesso a 276 prontuários, dos quais foram obtidas as seguintes informações dos pacientes operados no Programa: idade, sexo, procedência, tempo de cirurgia, comparecimento às consultas e reganho de peso. Esses dados evidenciaram que houve um maior número de mulheres operadas; a idade dos pacientes operados variou entre 18 e 60 anos, havendo uma concentração maior de operados na faixa etária compreendida entre 28 e 37 anos. A análise dos prontuários demonstrou a ocorrência de reganho de peso no Programa estudado e, as queixas relacionadas a esse aumento de peso no pós-operatório. Palavras-chave: Obesidade, Programa de cirurgia bariátrica, Reganho de peso ______________________________________________________________________ WEIGHT REGAIN: CASE STUDY OF A BARIATRIC SURGERY PROGRAMABSTRACT: In recent years it was noted an increase in the number of bariatric surgeries held in Brazil. However, it´s observed, in the obesity clinic, the occurrence of weight regain in the post-surgical period. Aiming to analyse the ocurrence of weight regain in a public hospital in the Northeast, it was held a case study of a Bariatric Surgery Program, on the basis of medical records of patients operated in 10 years of operation of the service. During the period of three months of data collection it was possible to get 276 medical records, of which were obtained the following information about the patients operated in the Program: age, gender, origin, surgery time, the attending to medical consultations and the weight regain. These data collection revealed that has been a greater number of women operated; the age of the patients operated has ranged between 18 and 60 years old, with an increased concentration of operated patients in the 28-37 age group.
Background The Congenital Adrenal Hyperplasia due to 21 hydroxylase deficiency is the most common cause of genital ambiguity in persons with XX sexual chromosomes. Genital ambiguity among persons with XY sexual chromosomes comprises diverse and rare etiologies. The deficiency of 17-beta-hydroxysteroid dehydrogenase type 3 enzyme (HSD17B3) is a rare autosomal recessive disorder due to functionally altered variants of the HSD17B3 gene. In this disorder/difference of sex development, the conversion of androstenedione into testosterone is impaired. The appearance of external genitalia of 46,XY individuals varies from typically male to almost female. Case presentation We report on a child presenting severe ambiguous genitalia. Due to access constraints, specialized care did not start until the child was 10 months old. Parents are consanguineous and were born in an area of high isonymy that is a cluster for rare recessive diseases. A new homozygous missense variant c.785G > T was found in exon 10 of the HSD17B3 gene. Conclusions Researchers-clinicians and researchers-researchers collaborative efforts to elucidate the genetic basis of this disease were critical since this etiologic investigation is not available through the public health system. This case exemplifies the families’ pilgrimage in cases of genital ambiguity due to a rare genetic condition. Recognizing the etiology was the baseline to provide information on prognosis and treatment options, and to shelter family and child doubts and hopes in order to better support their decisions.
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