Genetic and phenotypic analysis of MYO15A rare variants associated with autosomal recessive hearing loss / 临床耳鼻咽喉头颈外科杂志

Objective:To analyze the phenotype and genotype characteristics of autosomal recessive hearing loss caused by MYO15A gene variants, and to provide genetic diagnosis and genetic counseling for patients and their families. Methods:Identification of MYO15A gene variants by next generation sequencing in two sporadic cases of hearing loss at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine. The sequence variants were verified by Sanger sequencing.The pathogenicity of these variants was determined according to the American College of Medical Genetics and Genomics（ACMG） variant classification guidelines, in conjuction with clinical data. Results:The probands of the two families have bilateral,severe or complete hearing loss.Four variants of MYO15A were identified, including one pathogenic variant that has been reported, two likely pathogenic variants,and one splicing variant of uncertain significance. Patient I carries c. 3524dupA（p. Ser1176Valfs*14）, a reported pathogenic variant, and a splicing variant c. 10082+3G>A of uncertain significance according to the ACMG guidelines. Patient I was treated with bilateral hearing aids with satisfactory effect, demonstrated average hearing thresholds of 37.5 dB in the right ear and 33.75 dB in the left ear. Patient Ⅱ carries c. 7441_7442del（p. Leu2481Glufs*86） and c. 10250_10252del（p. Ser3417del）,a pair of as likely pathogenic variants according to the ACMG guidelines. Patient Ⅱ, who underwent right cochlear implantation eight years ago, achieved scores of 9 on the Categorical Auditory Performance-Ⅱ（CAP-Ⅱ） and 5 on the Speech Intelligibility Rating（SIR）. Conclusion:This study's discovery of the rare c. 7441_7442del variant and the splicing variant c. 10082+3G>A in the MYO15A gene is closely associated with autosomal recessive hearing loss, expanding the MYO15A variant spectrum. Additionally, the pathogenicity assessment of the splicing variant facilitates classification of splicing variations.

Splicing mutations of GSDME cause late-onset non-syndromic hearing loss / 临床耳鼻咽喉头颈外科杂志

Objective:To dentify the genetic and audiological characteristics of families affected by late-onset hearing loss due to GSDMEgene mutations, aiming to explore clinical characteristics and pathogenic mechanisms for providing genetic counseling and intervention guidance. Methods:Six families with late-onset hearing loss from the Chinese Deafness Genome Project were included. Audiological tests, including pure-tone audiometry, acoustic immittance, speech recognition scores, auditory brainstem response, and distortion product otoacoustic emission, were applied to evaluate the hearing levels of patients. Combining with medical history and physical examination to analyze the phenotypic differences between the probands and their family members. Next-generation sequencing was used to identify pathogenic genes in probands, and validations were performed on their relatives by Sanger sequencing. Pathogenicity analysis was performed according to the American College of Medical Genetics and Genomics Guidelines. Meanwhile, the pathogenic mechanisms of GSDME-related hearing loss were explored combining with domestic and international research progress. Results:Among the six families with late-onset hearing loss, a total of 30 individuals performed hearing loss. The onset of hearing loss in these families ranged from 10 to 50 years（mean age: 27.88±9.74 years）. In the study, four splicing mutations of the GSDME were identified, including two novel variants: c. 991－7C>G and c. 1183+1G>T. Significantly, the c. 991－7C>G was a de novo variant. The others were previously reported variants: c. 991-1G>C and c. 991-15_991-13del, the latter was identified in three families. Genotype-phenotype correlation analysis revealed that probands with the c. 991－7C>G and c. 1183+1G>T performed a predominantly high-frequency hearing loss. The three families carrying the same mutation exhibited varying degrees of hearing loss, with an annual rate of hearing deterioration exceeding 0.94 dB HL/year. Furthermore, follow-up of interventions showed that four of six probands received intervention（66.67%）, but the results of intervention varied. Conclusion:The study analyzed six families with late-onset non-syndromic hearing loss linked to GSDME mutations, identifying four splicing variants. Notably, c. 991－7C>G is the first reported de novo variant of GSDME globally. Audiological analysis revealed that the age of onset generally exceeded 10 years,with variable effectiveness of interventions.

Genetic counseling for hearing loss today / 临床耳鼻咽喉头颈外科杂志

Genetic counseling for hearing loss today originated from decoding the genetic code of hereditary hearing loss, which serves as an effective strategy for preventing hearing loss and constitutes a crucial component of the diagnostic and therapeutic framework. This paper described the main principles and contents of genetic counseling for hearing loss, the key points of counseling across various genetic models and its application in tertiary prevention strategies targeting hearing impairment. The prospects of an AI-assisted genetic counseling decision system and the envisions of genetic counseling in preventing hereditary hearing loss were introduced. Genetic counseling for hearing loss today embodies the hallmark of a new era, which is inseparable from the advancements in science and technology, and will undoubtedly contribute to precise gene intervention!

Health Management of an HIV Testing and Counseling Center: Nursing Contributions / Gestión en Salud de un Centro de Pruebas y Consejería para el VIH: Contribuciones de la Enfermería / Gestão em Saúde de um Centro de Testagem e Aconselhamento de HIV: Contribuições da Enfermagem

ABSTRACT Objectives: to analyze the role of nursing in the establishment of an HIV/AIDS Testing and Counseling Center in a Brazilian municipality. Methods: a historical study utilizing primary sources, including documents and oral accounts, involving a total of ten participants. The study encompasses the years 1997 and 1998. The research took place at the Testing and Counseling Center in São João de Meriti. Data was collected from March to May 2022. Results: nursing made significant contributions through the development of training initiatives led by nurses, who were also responsible for individual and group counseling, as well as HIV testing requests. Final Considerations: nursing played a crucial role in the center and in the management of Sexually Transmitted Infections, being involved in all stages of treatment in accordance with current public health policy.

RESUMEN Objetivos: analizar la participación de la enfermería en el proceso de creación del Centro de Pruebas y Consejería para personas con VIH/Sida de un municipio brasileño. Métodos: estudio histórico con fuentes directas constituidas por documentos y fuentes orales, sumando diez participantes. El periodo abarca los años 1997 y 1998. El escenario del estudio fue el Centro de Pruebas y Consejería de São João de Meriti. Los datos se recolectaron de marzo a mayo de 2022. Resultados: la enfermería contribuyó mediante el desarrollo de acciones de capacitación por parte del enfermero, que también era responsable de las actividades de asesoramiento individual y colectivo, además de la solicitud de exámenes anti-VIH. Consideraciones Finales: la enfermería representó una categoría responsable por acciones relevantes en el centro y en el control de las Infecciones de Transmisión Sexual (ITS), estando presente en todas las etapas del tratamiento en consonancia con la política pública de salud vigente.

RESUMO Objetivos: analisar a participação da enfermagem no processo de criação do Centro de Testagem e Aconselhamento para pessoas com HIV/Aids de um município brasileiro. Métodos: estudo histórico com fontes diretas constituídas por documentos e fontes orais, totalizando dez participantes. O recorte compreende os anos de 1997 e 1998. O cenário de estudo foi o Centro de Testagem e Aconselhamento de São João de Meriti. Os dados foram coletados de março a maio de 2022. Resultados: a enfermagem contribuiu por meio do desenvolvimento de ações de capacitação pelo enfermeiro, que também era responsável pelas atividades de aconselhamento individual e coletivo, além da solicitação de exame anti-HIV. Considerações Finais: a enfermagem representou uma categoria responsável por ações relevantes no centro e no controle das Infecções Sexualmente Transmissíveis, estando presente em todas as etapas do tratamento em consonância com a política pública de saúde vigente.

Evidence of validity of the Smoking Cessation Counseling scale - Brazilian version / Evidencias de validez de la escala Smoking Cessation Counseling - versión brasileña / Evidências de validade da escala Smoking Cessation Counseling - versão brasileira

Objective: to evaluate the evidence of validity of the internal structure and reliability of the Brazilian version of the Smoking Cessation Counseling instrument Method: psychometric study of confirmatory factor analysis and reliability carried out on 250 nurses in clinical practice. For the analysis of the convergent validity of the factor model, Average Variance Extracted values were calculated, and discriminant analysis was carried out using the Fornell-Larcker criterion. Reliability was examined using Cronbach's alpha coefficient and composite reliability Results: it was necessary to exclude seven items from the Advanced Counseling domain and one item from the Basic Counseling domain in order to properly obtain the Average Variance Extracted values and the Fornell-Larcker criterion. The composite reliability ranged from 0.76 to 0.86 and the overall Cronbach`s alpha coefficient was 0.86, ranging from 0.53 to 0.84 depending on the domain assessed. The final version of the instrument was made up of 16 items divided into 4 domains Conclusion: the Brazilian version of Smoking Cessation Counseling obtained adequate psychometric evidence of validity and reliability. Further studies are needed to refine the instrument.

Objetivo: evaluar las evidencias de validez de la estructura interna y de la confiabilidad de la versión brasileña del instrumento Smoking Cessation Counseling. Método: estudio psicométrico de análisis factorial confirmatorio y de confiabilidad realizado en 250 enfermeras de la práctica clínica. Para el análisis de la validez convergente del modelo factorial se calcularon valores de Average Variance Extracted, el análisis discriminante se realizó mediante el criterio de Fornell-Larcker. La confiabilidad se examinó por el coeficiente de alfa de Cronbach y por la confiabilidad compuesta. Resultados: fue necesaria la exclusión de siete ítems del dominio de Asesoramiento avanzado y un ítem del dominio Asesoramiento básico para obtener adecuadamente los valores de Average Variance Extracted y del criterio de Fornell-Larcker. La confiabilidad compuesta varió de 0,76 a 0,86 y el coeficiente de alfa de Cronbach global alcanzado fue de 0,86, variando de 0,53 a 0,84 dependiendo del dominio evaluado. Se obtuvo la versión final del instrumento compuesto de 16 ítems distribuidos en 4 dominios. Conclusión: la versión brasileña de Smoking Cessation Counseling obtuvo adecuadas evidencias psicométricas de validez y confiabilidad. Estudios posteriores serán necesarios para el refinamiento del instrumento.

Objetivo: avaliar as evidências de validade da estrutura interna e da confibialidade da versão brasileira do instrumento Smoking Cessation Counseling Método: estudo psicométrico de análise fatorial confirmatória e de confiabilidade realizado em 250 enfermeiras da prática clínica. Para a análise da validade convergente do modelo fatorial foram calculados valores de Average Variance Extracted , a análise discriminante foi realizada pelo critério de Fornell-Larcker. A confiabilidade foi examinada pelo coeficiente de alfa de Cronbach e pela confiabilidade composta Resultados: foi necessária a exclusão de sete itens do domínio de Aconselhamento avançado e um item do domínio Aconselhamento básico para obtenção adequada dos valores de Average Variance Extracted e do critério de Fornell-Larcker. A confiabilidade composta variou de 0,76 a 0,86 e o coeficiente de alfa de Cronbach global alcançado foi de 0,86, variando de 0,53 a 0,84 a depender do domínio avaliado. Obteve-se a versão final do instrumento composto de 16 itens distribuídos em quatro domínios Conclusão: a versão brasileira da Smoking Cessation Counseling obteve adequadas evidências psicométricas de validade e de confiabilidade. Estudos posteriores serão necessários para o refinamento do instrumento.

Características e estratégias de aconselhamento para atividade física utilizadas por profissionais da atenção primária à saúde / Characteristics and counseling strategies for physical activity used by primary health care professionals

Resumo O estudo buscou descrever as características e estratégias de aconselhamento para atividade física utilizadas por profissionais da atenção primária à saúde (APS). Foi realizada uma pesquisa com 587 profissionais de saúde (85,4% mulheres) que atuam na APS de Florianópolis, no estado de Santa Catarina, Sul do Brasil. Foram considerados os aconselhamentos efetuados nos últimos 12 meses, avaliando-se aspectos operacionais relacionados às práticas e estratégias utilizadas. A frequência de orientação de atividade física foi de 86,2% (IC95% = 83,2-88,8%). O aconselhamento se caracterizou como uma prática breve, realizada em consultas individuais, voltadas para adultos e idosos e pessoas com morbidades. A estratégia mais utilizada foi orientar usuários a participarem de grupos de atividade física no Centro de Saúde (89,5%), e em relação ao método 5As, dar algum "conselho" foi a estratégia mais utilizada (99,0%), e a menos utilizada foi seguir estratégias (22,6%). Aconselhamento para atividade física tem sido baseado em uma prática breve, realizada em consultas individuais e focada em pessoas com morbidades e em adultos e idosos. As estratégias utilizadas parecem não abranger o cuidado integral dos usuários aconselhados.

Abstract This study aim to describe the characteristics and strategies of counseling for physical activity used by Primary Health Care (PHC) professionals. A survey was carried out with 587 (85.4% women) health professionals who work in PHC in Florianopolis, in the state of Santa Catarina, southern Brazil. Counseling carried out in the last 12 months was considered. Operational aspects related to counseling practices and strategies used for counseling were evaluated. The frequency of physical activity guidance was 86.2% (95%CI = 83.2-88.8%). Counseling was characterized as a brief practice, carried out in individual consultations, aimed at adults and the older adults and people with morbidities. The most used strategy was to guide users to participate in physical activity groups at the Health Center (89.5%) and in relation to the 5As method, giving some "advice" was the most used strategy (99.0%) and the least used. used was to follow strategies (22.6%). Counseling for physical activity has been based on a brief practice, carried out in individual consultations and focused on people with morbidities and on adults and the elderly. The strategies used do not seem to cover the full care of the advised users.

Disposición de profesionales de la salud chilenos hacia la consejería breve anti-tabaco en pacientes hospitalizados de una institución privada / Readiness of chilean healthcare professionals towards brief tobacco cessation counseling in hospitalized smoking patients of a private institution

OBJETIVO: Evaluar la disposición pre y post intervención de profesionales de la salud de una consejería breve antitabaco (CBA) para pacientes fumadores hospitalizados. MATERIAL Y MÉTODO: Estudio cuantitativo, descriptivo correlacional de corte transversal, con 65 sujetos participantes. RESULTADOS: El 84,6% de los participantes son mujeres, con edad promedio de 33.8 años (DS±9,1). El 52,3% se desempeñaba como técnico en enfermería, seguidos por los enfermeros(as) (18,5%). El 34,9% de los sujetos eran fumadores, de ellos el 21,6% fumaba entre 1 y 5 cigarrillos diarios. Se observó mayor disposición y aceptabilidad hacia la CBA en los proveedores de salud que no fuman versus los fumadores en la medición basal. Post intervención hay diferencias significativas n el grupo de profesionales fumadores, mejorando su disposición y aceptabilidad hacia la CBA. CONCLUSIONES: A mayor consumo de tabaco en los proveedores de salud, menor es la disposición, la aceptabilidad y la conducta habitual de realizar la CBA a los pacientes adultos hospitalizados. Una intervención de CBA dirigida a personal fumador ha demostrado ser efectiva en mejorar su disposición. Si bien el ser fumador constituye una barrera de implementación, es algo que se puede mejorar con capacitación, por lo que se invita a tomar en considerar el nivel de consumo de tabaco de los funcionarios en futuras intervenciones de CBA en pacientes hospitalizados.

OBJECTIVE: To assess readiness among healthcare providers in pre- and post- brief tobacco cessation counseling (BTCC) intervention for hospitalized smoking patients. MATERIAL AND METHOD: Quantitative, descriptive, cross-sectional correlational study, with 65 participants. RESULTS: 84,6% of the participants are women, with an average age of 33,8 years (DS9,1). 52,3% work as nursing technicians, followed by nurses (18,5%). 34,9% of the participants are smokers, of which 21,6% smoke between 1 and 5 cigarettes a day. Greater readiness and acceptability towards BTCC are observed in non-smoking healthcare providers. Significant differences are found in the post BTCC intervention group of smoking healthcare providers, improving their readiness and acceptability towards BTCC. CONCLUSIONS: The greater the tobacco consumption of healthcare providers, the lower readiness, acceptability, and common practice of performing BTCC on hospitalized adult patients. A BTCC intervention aimed at smoking healthcare providers has been shown to be effective in improving their readiness. Although being a smoking healthcare provider has shown to be a barrier to BTCC implementation, it is something that can be overcome with intervention, which is why it is important to consider the level of tobacco consumption of healthcare providers in future implementation of BTCC in hospitalized patients.

Intervención educativa grupal para incrementar el ejercicio físico en personal de salud y la prescripción de este en sus pacientes / Group educational intervention to increase physical exercise in healthcare personnel and promote its prescription for their patients / Intervenção educativa em grupo para aumentar o exercício físico em profissionais de saúde e sua prescrição em seus pacientes

Objetivo: el objetivo del estudio fue evaluar el impacto de una intervención educativa grupal en el personal de salud para mejorar su práctica de ejercicio físico y la prescripción de esta a sus pacientes. Metodología: diseño preexperimental con medidas repetidas en un solo grupo, compuesto por personal de la salud (n = 17). Resultados: en el personal de salud se encontró un incremento en la motivación hacia la práctica de ejercicio físico (Likert, pre: 56 vs. 3 meses: 61). La principal motivación fue mantener un buen estado de salud, con un incremento del 18 % a los 6 meses con respecto del inicio. Sin embargo, también se identificó una reducción en el tiempo de práctica semanal de ejercicio físico, en la intensidad moderada (mediana, pre 120 minutos [75 - 210], tres meses 105 minutos [45 - 180], seis meses 60 minutos [50 - 135]) y en la vigorosa (mediana, pre 300 minutos [121,5 - 360], tres meses 60 minutos [30 - 120], seis meses 30 minutos [30 - 60]). La prescripción de ejercicio físico mejoró en frecuencia (pre 23 %, tres meses 36 %, seis meses 30 %) y componentes, además se acompañó de una reducción de los minutos/semana que el paciente la practicaba. Conclusiones: una intervención educativa grupal para el personal de salud puede influenciar de manera positiva algunos componentes actitudinales a favor de su práctica de ejercicio físico y la prescripción de este en sus pacientes, pero afecta negativamente su práctica en ambos grupos.

Objective: The aim of this study was to assess the effects of a group-based educational intervention on healthcare professionals' engagement in physical exercise and their ability to prescribe it to their patients. Methodology: This study employed a pre-experimental design with repeated measures within a single group, comprising healthcare professionals (n = 17). Results: Among healthcare professionals, an increase in motivation towards engaging in physical exercise was observed (Likert scale, pre: 56 vs. 3 months: 61). The main motivation reported was maintaining good health, which showed an 18 % increase at the 6-month mark compared to the start of the study. However, a reduction was also identified in the weekly duration of moderate-intensity exercise (median, pre: 120 minutes [75-210], three months: 105 minutes [45-180], six months: 60 minutes [50-135]), as well as vigorous-intensity exercise (median, pre: 300 minutes [121.5-360], three months: 60 minutes [30-120], six months: 30 minutes [30-60]). The prescription of physical exercise improved in terms of frequency (pre: 23 %, three months: 36 %, six months: 30 %) and components, accompanied by a reduction in the number of minutes per week that patients engaged in exercise. Conclusions: A group-based educational intervention for healthcare professionals can positively influence certain attitudinal components in favor of their engaging in physical exercise and prescribing it to their patients. However, it negatively affects their actual exercise practice in both groups.

Objetivo: o objetivo do estudo foi avaliar o impacto de uma intervenção educativa em grupo no pessoal de saúde para melhorar sua prática de exercício físico e sua prescrição para seus pacientes. Metodologia: delineamento pré-experimental com medidas repetidas em grupo único, composto por profissionais de saúde (n = 17). Resultados: verificou-seum aumento da motivação para a prática de exercício físico nos profissionais de saúde (Likert, pré: 56 vs. 3 meses: 61). A principal motivação foi manter um bom estado de saúde, com aumento de 18 % aos 6 meses em relação ao início. No entanto, também foi identificada uma redução no tempo de prática semanal de exercício físico, em intensidade moderada (mediana, pré 120 minutos [75 - 210], três meses 105 minutos [45 - 180], seis meses 60 minutos [50 - 135] ) e vigoroso (mediana, pré 300 minutos [121,5 - 360], três meses 60 minutos [30 - 120], seis meses 30 minutos [30 - 60]). A prescrição de exercício físico melhorou na frequência (pré 23 %, três meses 36 %, seis meses 30 %) e componentes, também foi acompanhada por uma redução dos minutos/semana que o paciente o praticava. Conclusões: uma intervenção educativa em grupo para profissionais de saúde pode influenciar positivamente alguns componentes atitudinais a favor da prática de exercício físico e sua prescrição em seus pacientes, mas afeta negativamente sua prática em ambos os grupos.

Safeguarding Our Adolescents from Inappropriate Use of Smart Gadgets: Hacks and Heuristics

Adolescents (children aged 11-19 years) are at the greatest peril when it comes to use of smart gadgets. These gadgets are essential for literacy and development, but also have the potential to cause addiction and other unwanted effects. Finding the right balance is the key. Thus, there is a considerable need to devise, enlist and convey to parents, various hacks and heuristics that can be used by them to optimize the use of smart gadgets by their teenager children. This communication should prove helpful for all health care professionals who are directly or indirectly involved in adolescent health care.

Missed and Lost to Follow-up Cases in HIV Positive Patients and the Impact of Lockdown During COVID-19 Pandemic on Adherence to Anti-retroviral Therapy at ART Center, Jhansi, Uttar Pradesh

Background: Anti-retroviral therapy (ART) for HIV has changed a highly fatal disease to a chronic manageable condition. National technical guidelines by NACO say that adherence of >95%(optimal) is required for optimal viral load suppression which is a challenge both for the patient and the health system. Objectives: This study was conducted to determine the reasons for missed and lost to follow-up (LFU) cases and to assess the impact of the COVID pandemic on ART adherence. Settings and Design: Cross-sectional study conducted at ART center, Jhansi. Methods and Material: 357 patients were administered a self-designed questionnaire after taking informed consent to enquire about the reasons for missing doses and LFU and whether they missed treatment during the lockdown. Statistical analysis used: the results were expressed in frequencies and percentages and appropriate statistical tests were applied. Results: 72% HIV patients had optimal adherence and 6.7% were on second-line treatment. Out of 357 patients, 56 had missed treatment and 10 were LFU. The main reasons for the missing were run out of pills, busy with other things and being away from home. The number of episodes of missed and LFU increased during the pandemic. The main problems faced were lack of transport (24), fear of catching the disease (7), no money to hire a vehicle (5). Conclusions: Constant monitoring and handholding of those with suboptimal adherence is required. Travel allowance to such patients and regular counseling will help to ensure adherence. Long-term solutions include vocational rehabilitation and awareness programs to reduce stigma and discrimination.

Germline Mutations Landscape in a Cohort of the State of Minas Gerais, Brazil, in Patients Who Underwent Genetic Counseling for Gynecological and Breast Cancer / Cenário de mutações germinativas em uma coorte do estado de Minas Gerais, Brasil, em pacientes submetidas ao aconselhamento genético para câncer ginecológico e de mama

Abstract Objective The present study evaluated the profile of germline mutations present in patients who underwent genetic counseling for risk assessment for breast cancer (BC), ovarian cancer (OC), and endometrial cancer (EC) with a possible hereditary pattern. Methods Medical records of 382 patients who underwent genetic counseling after signing an informed consent form were analyzed. A total of 55.76% of patients (213/382) were symptomatic (personal history of cancer), and 44.24% (169/382) were asymptomatic (absence of the disease). The variables analyzed were age, sex, place of birth, personal or family history of BC, OC, EC, as well as other types of cancer associated with hereditary syndromes. The Human Genome Variation Society (HGVS) nomenclature guidelines were used to name the variants, and their biological significance was determined by comparing 11 databases. Results We identified 53 distinct mutations: 29 pathogenic variants, 13 variants of undetermined significance (VUS), and 11 benign. The most frequent mutations were BRCA1 c.470_471delCT, BRCA1 c.4675 + 1G > T, and BRCA2 c.2T> G. Furthermore, 21 variants appear to have been described for the first time in Brazil. In addition to BRCA1/2 mutations, variants in other genes related to hereditary syndromes that predispose to gynecological cancers were found. Conclusion This study allowed a deeper understanding of the main mutations identified in families in the state of Minas Gerais and demonstrates the need to assess the family history of non-gynecological cancer for risk assessment of BC, OC, and EC. Moreover, it is an effort that contributes to population studies to evaluate the cancer risk mutation profile in Brazil.

Resumo Objetivo O presente estudo avaliou o perfil de mutações germinativas presentes em pacientes submetidas a aconselhamento genético para avaliação de risco para câncer de mama (CM), câncer de ovário (OC) e câncer de endométrio (CE) com possível padrão hereditário. Métodos Foram analisados os prontuários de 382 pacientes que realizaram aconselhamento genético após consentimento informado. Um total de 55,76% dos pacientes (213/382) eram sintomáticos (história pessoal de câncer), e 44,24% (169/382) eram assintomáticos (ausência da doença). As variáveis analisadas foram idade, sexo, naturalidade, história pessoal ou familiar de CM, OC, CE bem como outros tipos de câncer associados a síndromes hereditárias. As diretrizes de nomenclatura da Human Genome Variation Society (HGVS) foram usadas para nomear as variantes e seu significado biológico foi determinado pela comparação de 11 bancos de dados. Resultados Identificamos 53 mutações distintas: 29 variantes patogênicas, 13 variantes de significado indeterminado e 11 benignas. As mutações mais frequentes foram BRCA1 c.470_471delCT, BRCA1 c.4675 + 1G > T e BRCA2 c.2T > G. Além disso, 21 variantes parecem ter sido descritas pela primeira vez no Brasil. Além das mutações BRCA1/2, foram encontradas variantes em outros genes relacionados a síndromes hereditárias que predispõem a cânceres ginecológicos. Conclusão Este estudo permitiu conhecer melhor as principais mutações identificadas nas famílias do estado de Minas Gerais e demonstra a necessidade de avaliar a história familiar de câncer não ginecológico para avaliação do risco de CM, OC e CE. Além disso, é um esforço que contribui com estudos populacionais para avaliar o perfil de mutações de risco para câncer no Brasil.

Impact of individual counseling on the knowledge and attitudes of type 2 diabetics regarding diabetic retinopathy: The Aditya Jyot Diabetic Retinopathy in Urban Mumbai Slums Study – Report 3

Purpose: Baseline knowledge and attitudes regarding diabetic retinopathy (DR) have not been previously reported for type 2 diabetes mellitus adults (T2DM) in Dharavi, one of the largest slums in Mumbai. Furthermore, a pre? and post?intervention survey study regarding this topic has not been conducted to date in Dharavi. This pre? and post?intervention survey study analyzes the impacts of DR counseling sessions administered individually on the knowledge and attitudes of T2DM participants recruited from Dharavi. Methods: Potential subjects (>30 years old) from Dharavi were enrolled by community workers and screened for T2DM. Those with confirmed T2DM were each registered for an individual DR counseling session. A survey was distributed to participants before the counseling session to determine their baseline knowledge and attitudes. The same survey was distributed after the counseling session, and changes in pre? and post?survey responses were analyzed. Results: Exactly 1718 T2DM study participants were given pre? and post?surveys. Before the counseling, T2DM participants showed low baseline knowledge and attitudes regarding DR, with only 30.8% (530/1718) participants being aware that diabetes can affect the eye. Participants showed significant improvements after the counseling session, with more participants showing willingness to attend DR screenings (pre: 38.3.%, post: 56.8%; P < 0.0001) and more becoming aware that diabetes can affect the eye (90.4%, 1553/1718; P < 0.0001). Conclusion: Targeted educational interventions for T2DM individuals from the slums of western India, such as Dharavi, can lead to significant improvements in knowledge and attitudes, representing a promising avenue in tackling the burden of avoidable blindness caused by DR in India.

Efeito do aconselhamento farmacêutico na adesão à medicação do paciente e na erradicação do Helicobacter Pylori em pacientes ambulatoriais jordanianos / Effect of pharmacist counseling on patient medication compliance and helicobacter pylori eradication among jordanian outpatients

ABSTRACT Background: To examine the impact of pharmacist counseling and follow-up on patient's medication compliance and Helicobacter Pylori (H. pylori) eradication and evaluate the efficiency of an eradication regimen consisting of Clarithromycin 500 mg, Amoxicillin 1 g, and Lansoprazole 30 mg, twice daily for 14 days. Methods: Two hundred patients undergoing endoscopy and positive rapid urease tests were included in the present study. Patients were randomly divided into two groups: an intervention group (n=100) and a control group (n=100). The intervention patients obtained their medications from the hospital pharmacist and received sufficient counseling and follow-up. On the other hand, the control patients received their medications from another hospital pharmacist and went through the routine hospital procedure without good counseling and follow-up. Results: The intervention resulted in a statistically significant improvement in outpatient compliance with medication (45.0% vs 27.5%; P<0.05) and eradication of H. pylori (28.5% vs 42.5%; P<0.05) among those patients. Conclusion: This study reflects the importance of pharmacist counseling and patient compliance to medication, as the patients who received pharmacist counseling exhibited perfect compliance to medication, which led to the successful eradication of H. pylori.

RESUMO Contexto: Analisar o impacto do aconselhamento e acompanhamento farmacêutico na adesão medicamentosa do paciente e na erradicação do Helicobacter Pylori (H. pylori) e avaliar a eficiência de um regime de erradicação composto por Claritromicina 500 mg, Amoxicilina 1 g e Lansoprazol 30 mg, duas vezes ao dia por 14 dias. Métodos Duzentos pacientes submetidos à endoscopia e testes rápidos de urease positivos foram incluídos no presente estudo. Os pacientes foram divididos aleatoriamente em dois grupos: um grupo intervenção (n=100) e um grupo controle (n=100). Os pacientes de intervenção obtiveram seus medicamentos do farmacêutico do hospital e receberam aconselhamento e acompanhamento suficientes. Por outro lado, os pacientes do grupo controle receberam seus medicamentos de outro farmacêutico hospitalar e passaram pelo procedimento hospitalar de rotina sem um bom aconselhamento e acompanhamento. Resultados: A intervenção do farmacêutico resultou em melhora estatisticamente significativa na adesão ambulatorial à medicação (45,0% vs 27,5%; P<0,05) e na erradicação de H. pylori (28,5% vs 42,5%; P<0,05) entre esses pacientes. Conclusão Este estudo reflete a importância do aconselhamento farmacêutico e da adesão do paciente à medicação, uma vez que os pacientes que receberam aconselhamento farmacêutico apresentaram perfeita adesão à medicação, o que levou à erradicação bem-sucedida da H. pylori.

Evaluation of the intervention effect of conventional and peer AIDS voluntary counseling and testing services among young students / 中国学校卫生

Objective@#To explore the influence of two voluntary counseling and testing(VCT) services on young students acquired immune deficiency syndrome(AIDS) related knowledge and behaviour, so as to provide a new idea for further improvement and promotion of VCT services.@*Methods@#From April 2017 to December 2018, the sample size,selected from 12 patrol and fixed monitoring sites in colleges in Guangzhou, was calculated by non inferiority trial, and the students who received services at the same period were 1∶1 matched. A total of 113 students received conventional VCT and 186 recerived peer VCT services. The Chi square test was used to analyse the difference of AIDS related knowledge and behavior before and after intervention, and a survey was conducted on satisfaction.@*Results@#After young students received conventional VCT services, the overall awareness rate of AIDS basic knowledge increased from 80.53% to 93.75%, and the frequency of condom use every time during heterosexual sexual activity in the past year increased by 29.17 percentage points ( χ 2=4.49,4.10, P <0.05). After young students received peer VCT services, the awareness rate of the Four Frees and One Care Policy increased from 34.95% to 58.26%, the rates of homosexual anal sex and more than or equal to 2 sexual partners in the past half a year decreased by 14.84 and 29.43 percentage points, respectively( χ 2=15.69, 4.82, 10.97, P <0.05).@*Conclusion@#After young students receive two modes of VCT services respectively, the AIDS related knowledge and behavior have been improved, and the influence of the two VCT services has different advantages. The combination of conventional VCT and peer education might be a more effective way of AIDS intervention.

Prenatal phenotypic analysis and genetic counseling for 22q11.21 microdeletion and microduplication syndrome / 中华围产医学杂志

Objective:To analyze the prenatal clinical phenotypes and pregnancy outcomes of fetuses with 22q11.21 microdeletion and microduplication syndrome to provide a basis for clinical genetic counseling.Methods:This retrospective study involved the cases diagnosed with 22q11.21 microdeletion or microduplication by chromosomal microarray analysis (CMA) due to abnormal ultrasound findings, advanced maternal age, or high-risk pregnancies indicated by serum screening in the Prenatal Diagnosis Center of the First Affiliated Hospital of Air Force Medical University from January 2015 to January 2022. Clinical phenotypes and pregnancy outcomes of the fetuses were analyzed and described.Results:Among 9 141 cases referred for CMA during the study period, 77 cases (0.8%) were diagnosed as 22q11.21 microdeletion or microduplication, including 62 (80.5%) with 22q11.21 microdeletion and 15 (19.5%) with microduplication. In the 22q11.21 microdeletion cases, 58 had typical deletion, and four had atypical deletions, but all fetuses carried TBX1 gene that was clearly associated with congenital heart disease. The 15 fetuses with 22q11.21 microduplication including 14 in the typical region and one in the atypical region. Forty-eight (77.4%) out of the 62 fetuses with 22q11.21 microdeletion were complicated by congenital heart defects, including 28 with conotruncal defects. Five of the 15 fetuses with 22q11.21 microduplication were complicated by congenital heart defects. The cases were followed up on telephone at three to six months after the expected date of delivery. Among the 62 cases with 22q11.21 microdeletion, 52 terminated pregnancies, five were lost to follow-up, and five were delivered (one died after one month of premature delivery, one was born with anal advancement and growth retardation, and three were followed up without obvious abnormality). Among the 15 cases with 22q11.21 microduplication, four terminated pregnancies, two were lost to follow-up, and nine gave birth (eight were followed up without obvious abnormality, one grew slowly). Conclusions:The application of CMA in the prenatal diagnosis of 22q11.21 microdeletion and microduplication fetuses, and the comprehensive analysis of clinical manifestations and pregnancy outcome combined with ultrasonic diagnosis are of great significance in guiding the treatment and rehabilitation after birth of an affected child. Genetic counseling for cases with 22q11.21 microdeletion and microduplication syndrome should be cautious and consider ultrasound findings.

Construction of nutrition health educational guidance outline for primary and secondary school students in Shanghai / 中国学校卫生

Objective@#Develop a nutrition health educational guidance outline for primary and secondary school students which is adapted to the characteristics of Shanghai and meets the cognitive level of students at different levels, so as to provide a reference for planning the content and target of nutrition health education among students of different school stages.@*Methods@#Through literature search and qualitative interviews, the framework of nutrition health education for primary and secondary school students in Shanghai was developed, and 21 experts in the fields of nutrition, school health and health education were invitied to conduct a Delphi consultation, and determined the content of nutrition and health education for students in each school section based on the consultation results.@*Results@#The recall rate for both rounds of consultation was 100%, the degree of expert authority was 0.74 and 0.89 , and the coordination coefficients were 0.31 and 0.33( P <0.01), suggesting high credibility of expert opinion. The resulting guidance outline included 2 first level entries, 6 second level entries, 60 third level entries and corresponding entry explanations. The 2 first level entries were rational nutrition and food safety; the 6 second level entries were food and nutrients, balanced diet, good eating habits, nutritional practices, good hygiene habits and food borne diseases; the 60 third level entries needed to be studied in Level 1 were 24, Level 2 were 41, Level 3 were 55, and Level 4 were 59.@*Conclusion@#The nutrition health educational guidance outline for primary and secondary school students in Shanghai developed in this study focuses on key nutrition knowledge, rational dietary behaviors and nutrition practice skills, which can provide a reference and basis for the phased implementation of nutrition health education in primary and secondary schools.

Prenatal Diagnosis of 18q Deletion Syndrome / 中山大学学报(医学科学版)

ObjectiveTo explore the prenatal diagnostic methods of 18q deletion syndrome and improve understanding on the value of non-invasive prenatal testing （NIPT） in prenatal diagnosis of 18q deletion syndrome. Methods18q deletion syndrome was detected by conventional methods such as serological screening， ultrasonic imaging examination， chromosome karyotype analyses of both amniotic fluid cells and parental peripheral blood， and molecular biological techniques including NIPT， chromosomal microarray analysis （CMA） and copy number variation sequencing （CNV-Seq）. Genetic counseling was conducted based on these examination results. ResultsNIPT identified a 24 MB deletion on the chromosome 18 which contained 17 genes including BCL2 by karyotype analysis of amniotic fluid cells and CMA. Further ultrasonic imaging examination confirmed the diagnosis of 18q deletion syndrome and karyotype analysis of parental peripheral blood revealed a de novo deletion mutation. ConclusionsInterventional prenatal diagnosis is an integral standard for the diagnosis of 18q deletion syndrome. NIPT， as an important screening test in middle pregnancy， can indicate the early possible chromosome segment deletion and reduce the time and economic cost when no abnormality is found in ultrasonic imaging.

Preliminary development of Health Literacy Evaluation Scale for Pupils / 中国学校卫生

Objective@#To preliminarily develop Health Literacy Scale for pupils, providing a tool for dynamic monitoring and related health literacy research among pupils.@*Methods@#Through policy and literature review, the health literacy evaluation index system of pupils was established. Through two rounds of expert consultation, the evaluation index system and scale item pool of three levels in primary school were formed, and "Evaluation Scale 1.0" was developed. Through two panel discussions, health education experts, teachers and students were invited to provide advices on the content, expression and structure of scale 1.0, turning it into "Evaluation Scale 2.0", and completing the preliminary development of the scale.@*Results@#The health literacy assessment index system of primary school students includes three levels，including level-1 was Grade 1-2, level-2 was Grade 3-4,level-3 was Grade 5-6, covering two level indexes. The scale for primary school students contained five horizontal dimensions and four vertical dimensions. In the Delphi consultation, the response rate was 100%, and the authority coefficient was 0.85. After item selection and modification, the final version of level-1, level-2 and level-3 scales contained 36, 44 and 50 items respectively.@*Conclusion@#The development of Health Literacy Evaluation Scale for pupils has high applicability and practical value.

Desenvolvimento de sistema baseado na internet para orientação e telemonitoramento de usuários de prótese auditiva / Development of an Internet-based system to guide and telemonitor hearing aid users

RESUMO Objetivo Desenvolver e verificar a usabilidade de um sistema baseado na internet para telemonitoramento e orientação do usuário de prótese auditiva bem como monitorar o desempenho de longo prazo em um grupo piloto. Método O sistema Escuto, mas não entendo foi desenvolvido baseado em recomendações de literatura para layout, design e conteúdo de orientação e aconselhamento. Seguimos três etapas: planejamento, elaboração do design e conteúdo e teste piloto. A amostra foi formada por 43 adultos e idosos, com perda auditiva, de qualquer tipo e grau, uso regular de prótese auditiva de no mínimo 30 dias e no máximo 24 meses; com habilidade de leitura e sem evidências de comprometimentos cognitivos. Os indivíduos foram acompanhados por um período de oito a 12 meses. O desempenho dos usuários foi monitorado por meio do questionário Speech Spatial and Qualities of Hearing Scale. A usabilidade deste material foi avaliada com o questionário System Usability Scale. Resultados Foi observada melhora de desempenho e aumento de uso diário autorrelatado das próteses auditivas após o período de orientação e telemonitoramento via sistema para todos os participantes da pesquisa. Em todas as análises da escala SUS foi possível observar o desempenho superior a 70 pontos, demonstrando a boa usabilidade do sistema. Na análise do desempenho do SSQ, nos três momentos da pesquisa, observou-se resposta positiva em todos os domínios, mostrando assim uma evolução com o uso das próteses auditivas, com dados significantes para o domínio Audição para a fala. Conclusão A usabilidade do sistema foi considerada adequada pelos indivíduos participantes do estudo.

ABSTRACT Purpose To develop and verify the usability of an internet-based system for telemonitoring and guidance of the hearing aid user as well as monitoring the long-term performance in a pilot group. Methods The system "I can hear, but I can't understand" was developed based on recommendations in the literature regarding layout, design, and content for guidance and advice. Three stages were followed: planning, design and content development, and pilot testing. The sample consisted of 43 adults and older adults with any type and degree of hearing loss, who had been regularly using a hearing aid for at least 30 days and at most 24 months, with reading skills and no evidence of cognitive impairments. The individuals were followed up for 8 to 12 months. The users' performance was monitored with the Speech, Spatial and Qualities of Hearing Scale. The usability of this material was assessed with the System Usability Scale. Results Improved performance and increased self-reported daily use of the hearing aid were observed after the period of guidance and telemonitoring via the system for all research participants. In all analyzes of the SUS scale, it was possible to observe a performance superior to 70 points, demonstrating good usability of the system. In the analysis of the performance of the SSQ, in the three moments of the research, a positive response was observed in all domains, thus showing progress in the use of hearing aids, with significant data for the domain of Hearing Speech. Conclusion The system "I can hear, but I can't understand" proved to be an easy-to-use and effective tool to telemonitor hearing aid users.

Knowledge about recommendations for physical activity and personal practices of primary health care professionals / Conhecimento sobre as recomendações de atividades física e prática pessoal de profissionais da atenção primária em saúde

ABSTRACT Since the recommendations of moderate-to vigorous physical activity (PA) for health constitute important information to be shared in counseling practice, the present study was aimed to evaluate the level of knowledge of health professionals about the international PA recommendations for adults and elderly and to verify if there are associations between PA motivation with leisure time PA, readiness to change behavior and body mass index (BMI) of these professionals. In 2021, a questionnaire was applied remotely with health professionals from Brazilian health system. The survey had 34 participants, who answered sociodemographic and health questions, knowledge about international PA recommendations for adults and the elderly, PA duration, behavioral stage and motivations for PA practice. Of the five questions that assessed the knowledge of professionals, three had the highest prevalence of wrong answers, and professionals who have a more internal motivation to practice PA showed a significant association with reaching the minimum PA and eutrophic BMI recommendations. Professional qualification is important, together with encouragement to practice PA, through contents that consider internal motivations.

RESUMO Visto que as recomendações de atividade física (AF) moderadas e vigorosas para a saúde se constituem como uma importante informação a ser compartilhada no aconselhamento sobre AF, o presente estudo teve como objetivos avaliar o nível de conhecimento de profissionais da saúde sobre as recomendações internacionais de AF para adultos e idosos e verificar se existem associações entre a motivação para a prática de AF com o tempo de AF no lazer, o estágio de prontidão à mudança de comportamento e o índice de massa corporal (IMC) destes profissionais. Para isso, em 2021 foi aplicado, de maneira remota, um questionário com profissionais de saúde. A pesquisa contou com 34 participantes, que responderam questões sociodemográficas, de saúde, conhecimento sobre as recomendações internacionais de AF para adultos e idosos, tempo de AF, estágio comportamental e motivações para a prática de AF. Das cinco questões que avaliaram o conhecimento dos profissionais, três tiveram a maior prevalência de respostas erradas e, os profissionais que possuem uma motivação mais interna para a prática de AF apresentaram associação significativa com atingir as recomendações mínimas de AF e IMC eutrófico. É importante a qualificação profissional aliada ao incentivo à prática de AF, por meio de conteúdos que considerem motivações internas.