Advance in screening and diagnosis of obstructive sleep apnea-hypopnea syndrome in children / 国际儿科学杂志

Obstuctive sleep apnea-hypopnea syndrome(OSAHS) is a kind of disease that seriously endangers children′s health, which can disrupt children′s normal ventilation and sleep structure.Untreated OSAHS in children can cause damage to multiple systems, including cardiovascular, metabolic, endocrine and neurocognitive systems and even to death.Although polysomnography is the gold standard for the diagnosis of OSAHS in children, it is thought to be costly, labor-intensive, uncomfortable and the limitation of medical conditions in some areas, many patients can not obtain timely diagnosis.Therefore, it is necessary to find a simple and effective method for early screening of OSAHS in children.

EPIDEMIOLOGICAL PROFILE OF THE MASTOLOGY CLINIC IN A UNIVERSITY HOSPITAL IN THE NORTHWEST OF PARANÁ / Perfil epidemiológico do ambulatório de mastologia em um hospital universitário no noroeste do Paraná

Introduction: W ith i ncreased a wareness a bout b reast c ancer, d iscovering a b reast l ump c an c ause e motional s tress i n p atients. Thus, diagnostic methods are used to distinguish and confirm benign and malignant breast pathologies. Objective: To characterize the epidemiological profile of the Mastology Clinic of the University Hospital of Maringá, in a period of one year, defining the incidence of benign and malignant breast diseases in patients undergoing breast cancer screenings in the local public health network. Methods: A cross-sectional, retrospective and descriptive study, with data collection from patients seen at the Mastology Clinic from March 2015 to February 2016. Results: Of the 103 patients, 99% were female, 82.3% were between 40 and 69 years old, and 80.5% were white. Regarding the patient's main complaint, 55% had only one altered imaging exam, 7% had only clinical complaints, and 32% had a palpable nodule in addition to an altered imaging exam. The main findings in the imaging exams were nodules, present in 67.1% of mammograms and 80% of mammographic ultrasonography, with inconclusive or suspected classification in 77.9% of mammograms and 65.7% of ultrasonography. Biopsies were performed in 71.8% of the patients. Benign pathologies corresponded to 76.1% of the diagnoses and 25 cases of breast cancer were identified. Conclusion: The epidemiological profile of the Clinic presented similar characteristics to the literature during the period studied. Referrals to specialists were justified because the changes in the imaging exams warranted further investigation. Diagnostic procedures fulfilled their role, differentiating and confirming benign and malignant breast diseases.

Introdução: Com o aumento da conscientização sobre o câncer de mama, descobrir um nódulo mamário pode causar estresse emocional nos pacientes. Dessa forma, métodos diagnósticos são empregados para distinguir e confirmar patologias mamárias benignas e malignas. Objetivo: Caracterizar o perfil epidemiológico do Ambulatório de Mastologia do Hospital Universitário de Maringá, no período de um ano, definindo a incidência de patologias mamárias benignas e malignas em pacientes submetidos a rastreamento de câncer de mama na rede pública regional. Método: Estudo transversal, retrospectivo e descritivo, com a coleta de dados de pacientes atendidos no ambulatório de mastologia de março de 2015 a fevereiro de 2016. Resultados: Dos 103 pacientes, 99% eram mulheres, 82,3% entre 40 e 69 anos e 80,5% da cor branca. Em relação à queixa principal, 55% apresentaram exclusivamente um exame de imagem alterado, 7% apenas queixa clínica e 32% possuíam nódulo palpável além do exame de imagem com alterações. O principal achado nesses exames foram nódulos, presentes em 67,1% das mamografias e 80% das ultrassonografias mamárias, com classificação inconclusiva ou suspeita em 77,9% nas primeiras avaliações e 65,7% nas últimas. Biópsias foram realizadas em 71,8% dos pacientes. Patologias benignas corresponderam a 76,1% dos diagnósticos e 25 casos de câncer de mama foram identificados. Conclusão: O perfil epidemiológico encontrado no ambulatório analisado apresentou características semelhantes à literatura, no período estudado. Encaminhamentos para a especialidade apresentaram justificativa para tal pelas alterações nos exames de imagem que mereciam maior investigação. Procedimentos diagnósticos cumpriram seu papel, diferenciando e confirmando doenças mamárias benignas e malignas.

A Retrospective Review of 25 cases of Lethal Fetal Anomalies

Introduction: To review the gestational age at diagnosis, method of diagnosis, pregnancy outcome and maternal complications of prenatally diagnosed lethal foetal anomalies. Methods: Retrospective review of 25 women who had aborted or delivered foetuses with lethal anomalies in a tertiary hospital in 2011 based on patient medical records. Results: There were a total of 10,088 deliveries, in which 25 (0.24%) women were found to have conceived foetuses with lethal anomalies. All of them were diagnosed by prenatal ultrasound and only 7 (28.0%) had both prenatal ultrasound and genetic study done. The women’s mean age was 29.9 years old. The mean gestational age at diagnosis of lethal foetal anomalies was 25.5 weeks (SD=12.5) and mean gestational age at termination of pregnancy (TOP) or delivery was 28.5 weeks (SD=12.5). Seven (28%) women had early counseling and TOP at the gestation of < 22 weeks. Beyond 22 weeks of gestation, eight (32%) women had TOP and ten (40%) women had spontaneous delivery. Twenty (80%) women delivered or aborted vaginally, three (12%) women with assisted breech delivery and two (8%) women with abdominal delivery which were performed due to transverse foetal lie in labour and a failed induction, leading to emergency hysterotomy complicated by hysterectomy due to intraoperative finding of ruptured uterus. Overall, the associated post-partum adverse events included post-partum haemorrhage (12%), retained placenta (12%), blood transfusion (8%), uterine rupture (4%) and endometritis (4%). Mean duration of hospital stay was 6.6 days (SD 3.7 days). Conclusion: Late diagnosis of lethal foetal anomalies leads to various maternal morbidities, in this case series , which could have been prevented if they were diagnosed and terminated at early trimester. A new direction is needed in our local practice.

Screening for thalassaemia among group of students of a higher institution – our experience

Thalassaemia is an inherited blood disorder and is a significant public health alarm in Malaysia with many not knowing they are carriers of this haemoglobin disorders. Materials and methods: This study conducted a one off collection of blood samples from 72 Malays students of International Islamic University Malaysia (IIUM) in Kuantan. Blood samples were subjected to conventional haemoglobin analyses that include full blood count and picture, HPLC, Haemoglobin electrophoresis and H-inclusion test. All samples were also genotyped for alpha thalassaemia–1 of Southeast Asia (a-Thal1SEA). Result: There were 17(23.6%) students who were diagnosed as thalassaemia carriers. Out of this, four (5.5 %) and six (8.3 %) students were presumptive β-thalassaemia trait and Haemoglobin-E trait as determined by the HPLC assay respectively. Nine (12.5%) students were genotyped a-Thal1SEA among whom two were also β-thalassaemia carriers. All thalassaemia cases had MCH of 80fL. Two out of four (50%) presumptive β -thalassaemia trait and one out of six (17%) students of presumptive Haemoglobin-E trait had family history of thalassaemia respectively. Conclusion: The high occurrence of the three common types of thalassaemia carrier (β, Hb-E and a-Thal1SEA thalassaemia) in our small group of subjects could be due to better participation of students who had family history of thalassaemia. The study reaffirmed the importance of molecular study for detection of alpha-thalassaemia and the use of MCH value of <27pg rather than MCV value of < 80fL for prediction of thalassaemia.

A importância da amostra citológica adequada na detecção de lesões precursoras do câncer cérvico uterino / The magnitude of appropriate cytologic sample in the detection of precedent wounds of the uterine cervical cancer

A importância do câncer do colo uterino envolve sua epidemiologia, fatores sócioeconômicos econômicos e, sobre maneira as lesões precursoras que o antecedem. Identificá-las, mediante elementos da zona de transformação, foi um legado de Bethesda. Objetivos: identificar casos de anormalidade citológica quando presentes elementos representativos da zona de transformação do colo uterino ( presença de células endocervicais e/ou me taplásicas) na adequação da amostra. Método: Estudo descritivo, observacional corte transversal com coleta retrospectiva dos dados, baseou-se em laudos de colpocitologia oncológica emitidos de 1° de janeiro a 31 de dezembro de 2006 no Laboratório de Anatomia Patológica de um hospital privado da região norte catarinense. Foram definidos como representativos aqueles que contivessem células endocervicais e/ou metaplásicas e Não Representativos os demais. Comparou-se a proporção de esfregaços com presença de células metaplásicas e/ou endocervicais, com o diagnóstico de anormalidade, indeterminados ou com lesão intraepitelial. Resultados: Houve representatividade (presença de células metaplásicas e/ou endocervicais)em 96.6% dos laudos emitidos e 3.4% com ausência (p< 0.001). Quanto menor a idade da mulher, abaixo de 50 anos, maiores foram as possibilidades de se detectar células metaplásicas e/ou endocervicais (Teste exato de Fisher p<0.001), bem como de se encontrar algum tipo de anormalidade citológica como ASCUS ou neoplasia intraepitelial. Conclusão: Houve relação direta entre a presença de células metaplásicas e/ou endocervicais e o diagnóstico citológico.

The magnitude of the uterine colon cancer implicates its epidemiology, social economic coefficients and, exceptionally the precedent wounds that foregoes it. To identify them, through transmutation zone constituents, was a Bethesda bequest. Objectives: Recognize cytologic abnormality events when representative uterine colon transmutation zone elements (endocervical and/or metaplasic cells carriage) are found in the sample adequation. Method: Descriptive, observational study, transversal incision with reminiscent data collect, was based in oncologic colpocytology reports launched from january 1st to december 31st 2006 in the Pathological Anatomy Laboratory of a privative hospital of the catarinense north region.Were determined as representative those which embraced endocervical and/or metaplasic cell and non-representative the others. The proportion of smears with metaplasic and/or endocervical cells were compared, with the abnormality diagnosis, indefinite or with intrapitelial wound. Results: There was representativity (metaplasic and/or endocervical cells carriage) in 96.6% of the launched reports and 3.4% with absence (p<0.001). The younger the woman, under 50, the bigger the possibilities to detect metaplasic and/or endocervical cells (exact Fisher p< 0.001), as well as to discover any kind of cytologic abnormality as ASCUS or intraepithelial neoplasy. Conclusion: There was a direst relation between the metaplasic and/or endocervical cells carriage and the cytologic diagnosis.

Controvérsias na detecção do diabetes mellitus gestacional: passado, presente e perspectivas de consenso / Controversies in the detection of gestational diabetes mellitus: past, present and prospects for consensus

O diabetes mellitus gestacional é a mais comum das alterações metabólicas e uma das mais frequentes complicações clínicas que acometem a gravidez. A sua ocorrência está associada ao aumento de resultados adversos maternos e perinatais. Tais intercorrências não se restringem à duração do ciclo gravídico-puerperal, pois podem acarretar consequências de médio e longo prazos para a mãe e o recém-nascido. Esta revisão bibliográfica teve como objetivo analisar a evolução dos critérios e procedimentos empregados para a detecção e assistência às portadoras de diabetes gestacional, com ênfase no conteúdo dos protocolos recomendados atualmente por algumas das mais importantes entidades científicas nacionais e internacionais. Confirmou-se a grande heterogeneidade existente entre esses protocolos, fato que reflete a ausência de evidências científicas definitivas acerca da melhor metodologia de rastreamento e diagnóstico da doença. Como consequência, qualquer análise mais precisa da relação entre os valores da glicemia materna e o prognóstico materno-fetal encontra-se prejudicada. Entretanto, mais recentemente, alguns estudos importantes documentaram os benefícios do controle adequado do diabetes gestacional. Essas pesquisas geraram uma expectativa mais otimista de resposta aos principais questionamentos que ainda persistem na literatura: se o screening deve ou não ser realizado, qual o tipo mais adequado de rastreio e quais os níveis de hiperglicemia materna que estão diretamente relacionados aos maus resultados perinatais.

Gestational diabetes is the most common of the metabolic changes and one of the most frequent clinical complications that strike during pregnancy. Its occurrence is associated with an increase in adverse maternal and perinatal consequences. These intercurrences are not restricted only to the duration of the pregnant-puerperal cycle, as they can have medium and long term consequences for the mother and the newborn. The goal of this bibliographical review is to analyze the evolution of the criteria and procedures adopted to detect and care for patients with gestational diabetes, with emphasis on the content of guidelines presently recommended by some of the most important domestic and international scientific entities. The study confirmed the heterogeneity existing between these guidelines, which is a reflection of the lack of definitive scientific evidence surrounding the best methodology to screen and diagnose the illness. As a consequence, a more precise analysis of the relation between the levels of maternal glycemia and the maternal-fetal prognosis is impaired. However, more recently, some important studies have documented the benefits of proper control of gestational diabetes. These studies have led to a more optimistic expectation to find the answers to the main questions that still remain in the literature: whether screening should or should not be performed, what is the most appropriate type os screening and which levels of maternal hyperglycemia are directly related with bad perinatal results.