Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

ABSTRACT BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil. METHODS: The sample consisted of 59 patients with TS diagnosed from 1993 to 2019. A review of their medical records was performed and a standard protocol was filled out. RESULTS: The average age of the patients at diagnosis was 15.9 years, and 40.7% were over 13 years old. The largest proportion of them (42.4%) had been referred from an endocrinology department and their constitution was 45,X (40.7%). The most common clinical findings were short stature (85.7%), hypoplastic/ hyperconvex nails (61.2%), low posterior hairline (52.1%) and cubitus valgus (45.8%). There was no difference regarding the presence of short stature (P = 0.5943), number of dysmorphia (P = 0.143), anatomical regions affected and malformations identified through imaging examinations (P = 1.0000), regarding the presence or absence of 45,X constitution. Only 6% of the patients had used growth hormone and 43%, estrogen. CONCLUSION: We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities.

Telessaúde em um centro de referência em Diabetes Mellitus: uma análise transversal / Telehealth in a reference center in Diabetes Mellitus: a cross-sectional analysis

Resumo Objetivo Analisar uma ferramenta de telessaúde de um centro de referência em Diabetes Mellitus sob a ótica dos cuidadores. Método Estudo transversal, com abordagem quantitativa, desenvolvido em um centro de referência em Diabetes Mellitus, com cuidadores de crianças e adolescentes que utilizaram a Hot-Line e responderam ao questionário online, no período de novembro de 2018 a fevereiro de 2019. Resultados A amostra foi constituída de 90 participantes, sendo 76 (84,4%) do sexo feminino, tendo como o maior parentesco o materno 68 (75,6%). Quanto aos motivos das ligações, 31 (34,4%) referem-se às orientações gerais, 41 (45,6%) ao ajuste de dose de insulina, 6 (6,7%) à hipoglicemia aguda, 6 (6,7%) à hiperglicemia aguda, 2 (2,2%) aos dias de doença e 4 (4,4%) referem-se aos resultados de exames. Os participantes apresentaram um alto índice de satisfação com o uso da linha telefônica. Conclusão e implicações práticas O teleatendimento produz benefícios imediatos aos pacientes, sendo resolutivo no manejo da doença. Cabe ressaltar que o uso da telessaúde como forma de promoção da saúde contribui para a prevenção de agravos de maneira rápida, satisfatória e sem o deslocamento do paciente e sua família.

Abstract Objective To analyze a telehealth tool of a reference center in Diabetes Mellitus from the caregivers' perspective. Method A cross-sectional study, with a quantitative approach, developed at a reference center in Diabetes Mellitus, with caregivers of children and adolescents who used the Hot-Line and responded to the online questionnaire, from November 2018 to February 2019. Results The sample consisted of 90 participants, 76 (84.4%) were female, and the highest kinship was the maternal 68 (75.6%). Regarding the reasons for the telephone callings, 31 (34.4%) refer to general guidelines, 41 (45.6%) to the insulin dose adjustment, 6 (6.7%) to the acute hypoglycemia, 6 (6.7%) acute hyperglycemia, 2 (2.2%) to the days of disease and 4 (4.4%) refer to the test results. The participants presented a high level of satisfaction with the use of the telephone line.Conclusion and implications for practice: The call center produces immediate benefits to patients, being effective in the management of the disease. It should be emphasized that the use of telehealth as a form of health promotion contributes to the prevention of health problems in a fast, satisfactory way and without the displacement of the patient and his family.

Diagnósticos de enfermagem na síndrome de Turner / Nursing diagnoses in Turner syndrome

A síndrome de Turner é uma doença genética rara e possui repercussão importante na assistência em saúde destas pacientes. Apesar da ST não ser incomum, ainda existem lacunas na literatura acerca da assistência de enfermagem. O objetivo do trabalho foi inferir diagnósticos de enfermagem a partir das condições clínicas apresentadas pelas pacientes com síndrome de Turner (ST), conforme a taxonomia II NANDA-I. Trata-se de um estudo transversal e retrospectivo, de abordagem quantitativa. A amostra foi constituída por 59 pacientes com ST, diagnosticadas no período de 1993 a 2019. Os dados foram extraídos dos seus prontuários e submetidos à inferência diagnóstica pautados na taxonomia II NANDA-I. O julgamento clínico ocorreu com as principais dismorfias descritas entre as pacientes. No que tange aos resultados, a constituição cromossômica mais frequente foi a monossomia do cromossomo X (40,7%) e a média de idade do diagnóstico das pacientes foi de 15,9 anos (variou de 1 mês a 34 anos). As principais dismorfias descritas foram: baixa estatura, cúbito valgo, pectus excavatum e palato ogival. Os diagnósticos inferidos para a população estudada foram isolamento social, mobilidade física prejudicada, deglutição prejudicada, baixa autoestima situacional e padrão respiratório ineficaz. Concluiu-se que a proposição de diagnósticos de enfermagem possibilita qualificar a assistência destas pacientes, a partir de evidências no cuidado à pacientes com doenças raras.

Turner's syndrome (TS) is a rare genetic disease and has an important impact on the health care of these patients. Although TS is not uncommon, there are still gaps in the literature about nursing care. The objective of the study was to infer nursing diagnoses from the clinical conditions presented by patients with Turner syndrome, according to NANDA-I taxonomy II. This is a cross-sectional and retrospective study, with a quantitative approach. The sample consisted of 59 patients with TS, diagnosed from 1993 to 2019. The data were extracted from their medical records and submitted to diagnostic inference based on the NANDA-I taxonomy II. The clinical judgment occurred with the main dysmorphias described among the patients. Regarding the results, the most common chromosomal constitution was X chromosome monosomy (40.7%) and the mean age of the patients at diagnosis was 15.9 years (ranged from 1 month to 34 years). The main dysmorphias described were: short stature, ulna valgus, pectus excavatum, and ogival palate. The diagnoses inferred for the studied population were social isolation, impaired physical mobility, impaired swallowing, low situational self-esteem, and ineffective breathing patterns. It was concluded that the proposal of nursing diagnoses makes it possible improve the assistance of these patients, based on evidence in the care of patients with rare diseases.

Características clínicas e padrão de fraturas no momento do diagnóstico de osteogênese imperfeita em crianças / Clinical features and pattern of fractures at the time of diagnosis of osteogenesis imperfecta in children

RESUMO Objetivo: Caracterizar o padrão de fraturas e a história clínica no momento do diagnóstico de osteogênese imperfeita. Métodos: Neste estudo retrospectivo, foram incluídos todos os pacientes com osteogênese imperfeita de ambos os sexos, com idades entre 0 e 18 anos, que realizaram tratamento entre 2002 e 2014. Os prontuários médicos foram revisados para coleta de dados clínicos, incluindo presença de escleras azuladas, dentinogênese imperfeita, história familiar positiva para a doença e locais das fraturas, além de achados radiográficos no momento do diagnóstico. Resultados: Foram incluídos no estudo 76 pacientes (42 do sexo feminino), com idade, no momento do diagnóstico, entre 0 e 114 meses [mediana (p25-p75) de idade de 38 (6-96) meses]. Escleras azuladas estavam presentes em 93,4% dos pacientes, dentinogênese imperfeita foi observada em 27,6% e ossos wormianos em 29,4%. O número de fraturas ao diagnóstico variou entre 0 e 17, com uma mediana de 3 (2-8) fraturas. Em 40 (57%) pacientes, as fraturas eram de membros superiores e inferiores no momento do diagnóstico e, em 9 pacientes também havia fratura vertebral. O diagnóstico foi realizado ao nascimento em 85,7% dos pacientes com o tipo 3 e em 39,3% daqueles com tipo 4/5 da doença. Conclusões: Osteogênese imperfeita é uma doença genética com características clínicas distintas, tais como fragilidade óssea, fraturas recorrentes, escleras azuladas e dentinogênese imperfeita. É importante saber identificar essas características, facilitando o diagnóstico, otimizando o tratamento e diferenciando de outras doenças que também podem causar fraturas.

ABSTRACT Objective: To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. Methods: In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. In addition, radiographic findings at the time of the diagnosis were reviewed. Results: Seventy-six patients (42 females) were included in the study. Individuals' age ranged from 0 to 114 months, with a median (interquartile range) age of 38 (6-96) months. Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. The number of fractures at diagnosis ranged from 0 to 17, with a median of 3 (2-8) fractures. Forty (57%) patients had fractures of the upper and lower extremities, and 9 patients also had spinal fractures. The diagnosis was performed at birth in 85.7% of patients with type 3, and 39.3% of those with type 4/5 of the disorder. Conclusions: Osteogenesis imperfecta is a genetic disorder with distinctive clinical features such as bone fragility, recurrent fractures, blue sclerae, and dentinogenesis imperfecta. It is important to know how to identify these characteristics in order to facilitate the diagnosis, optimize the treatment, and differentiate osteogenesis imperfecta from other disorders that also can lead to fractures.

Serial High-Sensitivity Troponin T in Post-Primary Angioplasty Exercise Test / Troponina T de Alta Sensibilidade Seriada em Teste de Estresse Realizado Após Angioplastia Primária

Abstract Background: The kinetics of high-sensitivity troponin T (hscTnT) release should be studied in different situations, including functional tests with transient ischemic abnormalities. Objective: To evaluate the release of hscTnT by serial measurements after exercise testing (ET), and to correlate hscTnT elevations with abnormalities suggestive of ischemia. Methods: Patients with acute ST-segment elevation myocardial infarction (STEMI) undergoing primary angioplasty were referred for ET 3 months after infarction. Blood samples were collected to measure basal hscTnT immediately before (TnT0h), 2 (TnT2h), 5 (TnT5h), and 8 hours (TnT8h) after ET. The outcomes were peak hscTnT, TnT5h/TnT0h ratio, and the area under the blood concentration-time curve (AUC) for hscTnT levels. Log-transformation was performed on hscTnT values, and comparisons were assessed with the geometric mean ratio, along with their 95% confidence intervals. Statistical significance was assessed by analysis of covariance with no adjustment, and then, adjusted for TnT0h, age and sex, followed by additional variables (metabolic equivalents, maximum heart rate achieved, anterior wall STEMI, and creatinine clearance). Results: This study included 95 patients. The highest geometric means were observed at 5 hours (TnT5h). After adjustments, peak hscTnT, TnT5h/TnT0h and AUC were 59% (p = 0.002), 59% (p = 0.003) and 45% (p = 0.003) higher, respectively, in patients with an abnormal ET as compared to those with normal tests. Conclusion: Higher elevations of hscTnT may occur after an abnormal ET as compared to a normal ET in patients with STEMI.

Resumo Fundamento: O comportamento da troponina T de alta sensibilidade (hscTnT) deve ser estudado em diversas situações, incluindo testes funcionais com alterações sugestivas de isquemia transitória. Objetivo: Analisar o comportamento da hscTnT seriada após teste ergométrico (TE) e correlacionar aumentos desse marcador com anormalidades sugestivas de isquemia. Métodos: Participantes com infarto agudo do miocárdio com supradesnível do segmento ST (IAMCSST) submetidos à angioplastia primária e encaminhados para TE realizado após terceiro mês do infarto. A hscTnT foi coletada imediatamente antes do exame (TnT0h) e 2 (TnT2h), 5 (TnT5h) e 8 horas (TnT8h) após (TnT0h, TnT2h, TnT5h e TnT8h, respectivamente). Os desfechos considerados foram: pico de hscTnT (TnT pico), razão TnT5h/TnT0h e área sob a curva. Utilizada transformação logarítmica e apresentação dos valores como médias geométricas. As comparações foram sumarizadas pela razão das médias com seus respectivos intervalos de confiança. A significância estatística foi verificada em modelo de ANCOVA sem ajustes e, em seguida, ajustando-se para a TnT0h, sexo, idade e variáveis adicionais (METS, porcentagem da frequência cardíaca máxima atingida, IAMCSST de parede anterior e depuração da creatinina). Resultados: Foram incluídos 95 participantes. Ocorreram maiores valores nas médias geométricas de hscTnT no momento de TnT5h. Após ajustes, o TnT pico, TnT5h/TnT0h e área sob a curva foram 59% (p = 0,002), 59% (p = 0,003) e 45% (p = 0,003) maiores, respectivamente, em pacientes apresentando TE alterado em comparação a TE normal. Conclusão: Maiores elevações de hscTnT podem ocorrer após TE alterado em comparação a testes normais em pacientes com histórico de IAMCSST.

Mucopolysaccharidosis: Caregiver Quality of Life

Abstract The mucopolysaccharidoses (MPSs) are a group of rare genetic diseases caused by a deficiency of specific enzymes involved in catabolism of glycosaminoglycans, which causes multisystem abnormalities. Quality of life (QoL) is directly associated with physical, mental, and psychological well-being and with social relationships, including family and friends. Aims: To evaluate the QoL of caregivers of patients with MPS. Methods: Cross-sectional study using a convenience sampling strategy. The sample comprised mothers of patients with MPS seen at the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil. The World Health Organization Quality of Life Assessment (WHOQOL-BREF) was used to assess QoL. Results: Eleven mothers of 12 patients with MPS (MPS-I = 1; MPS-II = 3; MPS-III = 3; MPS-IV = 4; and MPS-VI = 1) were included. The average WHOQOL-BREF score was 46.59, with the physical health domain scoring highest and the environmental domain scoring lowest. The lower QoL of mothers of children with MPS-II seems to be related to the worse clinical condition of these children, with more severe symptoms and greater need for help with daily activities as well as with a feeling of responsibility due to the inheritance pattern of the disease.

TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil

We report a study of TGFA/ Taq I polymorphisms and environmental factors in non-syndromic oral cleft in Southern Brazil. Nonsyndromic cleft case-parent triads were recruited to participate. Clinical data was collected with an emphasis on tobacco and alcohol use during pregnancy. DNA was extracted from peripheral blood and TGFA/ Taq I polymorphisms were analyzed by PCR/RFLP with Taq I restriction enzyme. Association of clefts and TGFA/ Taq I polymorphisms was determined using a transmission disequilibrium test (TDT). Association of environmental factors, clefts, and genotypes was evaluated with Fisher's exact test. The minor allele frequency was 0.064. We found no evidence of association between TGFA/ Taq I polymorphisms and clefting (TDT p = 0.335). We also found no association between TGFA/ TaqI polymorphisms and environmental factors (alcohol and/or tobacco). Therefore, no evidence was found that TGFA/ Taq I polymorphisms play a role in clefting in this population. No evidence was found that tobacco or alcohol exposure during pregnancy was related to clefting, however a larger sample size is needed to confirm these results.

Escutando as mães de portadores de fissuras orais / Listening to the mothers of individuals with oral fissures / Escuchando a las madres de portadores de fisuras orales

Estudo descritivo com abordagem qualitativa. Objetivou a escuta e o relato sobre a etiologia da malformação e conhecer as crenças atribuídas pelos familiares à manifestação das fissuras orais. Os dados foram coletados de março a junho de 2009 por entrevista semi-estruturada e analisados por análise de conteúdo. Resultou em cinco categorias: reação da mãe, sentimentos das mães e da família, comportamento da equipe, conhecimento da causa e crenças. Os resultados permitiram conhecer as crenças sobre o tema e adequar as orientações da enfermagem e dos demais profissionais às mães de portadores de fissuras orais, auxiliando os familiares em todas as fases de desenvolvimento da criança durante o processo terapêutico.

This descriptive study was performed using a qualitative approach. The objective was to listen and report on the etiology of the malformation and learn about the beliefs of relatives regarding the manifestation of oral fissures. Data collection was performed from March to June 2009 using semi-structured interview and analyzed using content analysis. Five categories emerged: mother's reaction, feelings of the mothers and of the family, the behavior of the team, knowledge of the causes, and beliefs. The results permitted to learn about the beliefs regarding the theme and adjust the orientations of the nursing tem and other health professionals to mothers of individuals with oral fissures, helping the relatives throughout all the phases of child development during the therapeutic process.

Estudio descriptivo de abordaje cualitativo. Objetivó la escucha y relato sobre la etiología de la malformación y conocer las creencias atribuidas por los familiares a la manifestación de fisuras orales. Datos recogidos de marzo a junio de 2009 por entrevista semiestructurada y analizados por análisis de contenido. Resultó en cinco categorías: reacción de la madre, sentimientos de las madres y de la familia, comportamiento del equipo, conocimiento de la causa y creencias. Los resultados permitieron conocer las creencias sobre el tema y adecuar las orientaciones de enfermería y de los demás profesionales a las madres de portadores de fisuras orales, auxiliando a los familiares en todas las fases de desarrollo del niño durante el proceso terapéutico.