Compromiso inmunológico en pacientes con síndrome de Down. Serie de casos / Immune compromise in patients with Down syndrome. A case series

El síndrome de Down, o trisomía 21, tiene una mortalidad mayor que la población general, debido principalmente a infecciones respiratorias. El objetivo de este trabajo es describir el compromiso inmunológico en una serie de casos de pacientes con síndrome de Down derivados a Inmunología por infecciones recurrentes o por hallazgo patológico de laboratorio, entre el 1 de junio de 2016 y el 31 de mayo de 2022. Se describe el compromiso de la inmunidad en 24 pacientes. Doce pacientes presentaron falla de respuesta a polisacáridos y recibieron quimioprofilaxis antibiótica y/o gammaglobulina sustitutiva. En 3 pacientes, se observó agammaglobulinemia con linfocitos B presentes y se indicó gammaglobulina sustitutiva. En 9 pacientes, se observó linfopenia T y en 1 paciente, compromiso inmune combinado.

Down syndrome, or trisomy 21, has a higher mortality than the general population, mainly due to respiratory tract infections. The objective of this study was to describe immune compromise in a series of cases of patients with Down syndrome referred to the Pediatric Immunology Section due to recurrent infections or pathological laboratory findings between 6/1/2016 and 5/31/2022. Here we describe immune compromise in 24 patients. Twelve patients failed to develop a polysaccharide response and received antibiotic chemoprophylaxis, or gamma globulin replacement therapy. Three patientsdeveloped agammaglobulinemia with presence of B cells and gamma globulin replacement therapy was indicated. Nine patients had T-cell lymphopenia and 1 patient, combined immune compromise.

Use of FGF21 analogs for the treatment of metabolic disorders: a systematic review and meta-analysis

ABSTRACT FGF21 is a hormone produced primarily by the liver with several metabolic functions, such as induction of heat production, control of glucose homeostasis, and regulation of blood lipid levels. Due to these actions, several laboratories have developed FGF21 analogs to treat patients with metabolic disorders such as obesity and diabetes. Here, we performed a systematic review and meta-analysis of randomized controlled trials that used FGF21 analogs and analyzed metabolic outcomes. Our search yielded 236 articles, and we included eight randomized clinical trials in the meta-analysis. The use of FGF21 analogs exhibited no effect on fasting blood glucose, glycated hemoglobin, HOMA index, blood free fatty acids or systolic blood pressure. However, the treatment significantly reduced fasting insulinemia, body weight and total cholesterolemia. None of the included studies were at high risk of bias. The quality of the evidence ranged from moderate to very low, especially due to imprecision and indirection issues. These results indicate that FGF21 analogs can potentially treat metabolic syndrome. However, more clinical trials are needed to increase the quality of evidence and confirm the effects seen thus far.

Enhancing understanding of SARS-CoV-2 infection among individuals with Down syndrome: An integrative review

ABSTRACT BACKGROUND: Down syndrome (DS) is a non-rare genetic condition that affects approximately 1 in every 800 live births worldwide. Further, it is associated with comorbidities, anatomical alterations of the respiratory tract, and immunological dysfunctions that make individuals more susceptible to respiratory infections. OBJECTIVE: To systematize the current scientific knowledge about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among individuals with DS. DESIGN AND SETTING: This integrative review was conducted at the Universidade Federal de São Carlos, São Paulo, Brazil. METHODS: This review was conducted in the following databases: the Virtual Health Library (Biblioteca Virtual em Saúde, BVS), PubMed, and Web of Science, using MeSH descriptors. The search included English or Portuguese studies published between January 1, 2020, and October 14, 2022. RESULTS: A total of 55 articles from 24 countries were selected, comprising 21 case-control or cohort studies, 23 case reports or series, and 11 narrative reviews or opinion studies. The articles were grouped into five categories: previous comorbidities, coronavirus disease 2019 (COVID-19) clinical features and evolution, cytokine storm and interleukins, living in institutions as a risk factor, and behavioral actions as a protective factor against SARS-CoV-2 infection. CONCLUSION: Individuals with DS are more susceptible to COVID-19 infection due to variables such as previous comorbidities, immunological factors, and their habitable environments. These aspects confer a higher risk of infection and an unfavorable clinical course. The precise pathways involved in the pathophysiology of COVID-19 in individuals with DS are not clear, thus requiring further studies. SYSTEMATIC REVIEW REGISTRATION: The Open Science Framework registered the research protocol (https://osf.io/jyb97/).

A network pharmacology-based approach to explore mechanism of kaempferol-7 -O -neohesperidoside against prostate cancer / 中国药理学通报

Aim To explore the effect of kaempferol-7- 0-neohesperidoside (K70N) against prostate cancer (PCa) and the underlying mechanism. Methods The effect of K70N on the proliferation of PCa cell lines PC3, DU145, C4-2 and LNCaP was detected using CCK8 assay. The effect of K70N on migration ability of DU145 cells was determined by wound healing assay. The targets of K70N and PCa were screened from SuperPred and other databases. The common targets both related to K70N and PCa were obtained from the Venny online platform, a protein-protein interaction network (PPI) was constructed by the String and Cyto- scape. Meanwhile, the GO and KEGG functional enrichment were analyzed by David database. Then, a "drug-target-disease-pathway" network model was constructed. Cell cycle of PCa cells treated with K70N was analyzed by flow cytometry. The expressions of cycle-associated proteins including Skp2, p27 and p21 protein were detected by Western blot. Molecular docking between Skp2 and K70N was conducted by Sybyl X2. 0. Results K70N significantly inhibited the proliferation and migration of PCa cells. A total number of 34 drug-disease intersection targets were screened. The String results showed that Skp2 and p27, among the common targets, were the key targets of K70N for PCa treatment. Furthermore, GO and KEGG functional en-richment indicated that the mechanism was mainly related to the cell cycle. Flow cytometry showed that K70N treatment induced cell cycle arrest at the S phase. Compared with the control group, the protein expression level of Skp2 was significantly down-regulated, while the protein expression levels of p27 and p21 were up-regulated. The network molecular docking indicated that the ligand K70N had a good binding ability with the receptor Skp2. Conclusions K70N could inhibit the proliferation and migration of PCa cells, block the cell cycle in the S phase, which may be related to the regulation of cell cycle through the Skp2- p27/p21 signaling pathway.

Effect of LncRNA p21 regulating Hippo-YAP signaling pathway on formation of abdominal aortic aneurysm in mice and its mechanism / 中国药理学通报

Aim To investigate the effect of long non- coding RNA p21 (LncRNA p21) regulating Hippo- Yes-associated protein (Hippo-YAP) signaling pathway on the formation of abdominal aortic aneurysm (AAA) in mice. Methods C57BL/6 ApoE

Psychological Distress and Its Association with Functional Disability Index Among Acne Patients Attending Dermatology Clinics in the Kuantan Tertiary Hospitals

@#Introduction: Acne is the most common skin disease among adolescents and has significant psychological distress. Our objective is to assess acne severity, functional disability, and its psychological distress among acne patients. Methods: A cross-sectional study was conducted from November 2021 to May 2022 among 163 acne patients attending Dermatology Clinics in the district of Kuantan, Pahang. The severity of acne was graded using the Comprehensive Acne Severity Scale (CASS). The functional disability index was measured using a Cardiff Acne Disability Index (CADI), while Depression, Anxiety and Stress Scale (DASS-21) questionnaires were used as a screening tool to detect the psychological distress of acne. Data were analysed using a Chi-square test, Fisher’s exact test and multiple logistic regression. Results: The mean age was 23 years, 60.1% were female, 94.5% were Malay, and 68.1% were unemployed. The severity of acne was more prominent in the mild (30.7%) and moderate (28.2%) categories. A total of 20.2%, 11.7%, and 4.9% of the respondents had anxiety, depression, and stress symptoms, respectively. Regarding the respondents’ functional disability, 40.5% had mild impairment, 38.0% had moderate impairment, and 13.5% had severe impairment. Acne severity was found to be significantly associated with the functional disability index (P<0.05). The functional disability index was also found to be significantly associated with depression (p=0.019) and anxiety symptoms (p=0.042). Conclusion: Clinical management of acne patients should include not only pharmacological treatment but also consideration of the disease’s functional disability status and psychological distress.

Physiological Response and Impact of COVID-19 Pandemic among Malaysian Citizens: A Cross-sectional Study

@#Introduction: Studies have shown that staying at home for prolonged periods of crisis can pose a significant challenge to individuals and affect their mental health. Hence, this study was conducted to identify the susceptible subgroups among Malaysian citizens that are prone to mental health problems during the lockdown period of the COVID-19 pandemic and its association with sociodemographic factors. Methods: The mental health status was assessed using the Depression, Anxiety, and Stress Scale -21 (DASS-21) questionnaire. The survey link was distributed online between October and December 2020. Results: Of 637 respondents, one-third experienced mild to extremely severe depression and anxiety (31.1% and 35.1%, respectively). Female respondents (odds ratio = 1.516, 95% confidence interval (CI) 1.057-2.172) were 1.5 times more likely to experience mild to severe depression than male respondents. Unmarried and divorced respondents were 2.1 times more prone to experience mild to severe depression than married respondents. A significant association was also found between employment status and age with depression symptoms among the respondents. For anxiety, a significant association was observed between the age group with mild to severe anxiety symptoms. Marital status, age, and employment status were socio-demographic factors significantly impacting stress levels. Conclusion: According to our findings, females, individuals aged 18-30 years old, students, unmarried and divorced respondents were more susceptible to mental health problems, suggesting that mental health support shall also be provided for these vulnerable groups during the COVID-19 crisis.

Study on the effect and mechanism of the alcoholic extract from Scabiosa comosa against hepatic fibrosis / 中国药房

OBJECTIVE To explore the effect and mechanism of the alcoholic extract from Scabiosa comosa against hepatic fibrosis （HF）. METHODS Intragastrical administration of carbon tetrachloride was given to induce HF model. By observing the pathological changes in liver tissue， mRNA and protein expressions of HF indexes [α-smooth muscle actin （α-SMA）， collagen type Ⅰ] and phosphoinositide 3-kinase （PI3K）/protein kinase B （Akt） pathway-related factors were detected， and the improvement effects and possible mechanism of low-dose， medium-dose and high-dose （50， 100， 200 mg/kg） of alcoholic extract from S. comosa on HF model rats were investigated. Drug-containing serum was prepared by intragastrical administration of alcoholic extract from S. comosa at a concentration of 1 800 mg/（kg·d） （calculated by the amount of raw material）. The effects of drug- containing serum of alcoholic extract from S. comosa on the expression of miRNA-21 were observed through the intervention of HSC-T6 cells with low， medium and high concentrations of drug-containing serum of alcoholic extract from S. comosa （diluted to 10%， 15%， 20%）. miRNA-21 mimics or inhibitors were used to transfect HSC-T6 cells， and the mRNA and protein expressions of factors related to the PI3K/Akt signaling pathway were detected. RESULTS The results of in vivo experiments showed that low， medium and high doses of alcoholic extract from S. comosa significantly ameliorated the histopathological changes in liver tissue of HF rats， and the percentage of collagen was significantly reduced （P＜0.01）； mRNA and protein expressions of the indicators related to HF as well as PI3K and Akt were significantly reduced （P＜0.01）， and mRNA and protein expressions of phosphatase and tensin homolog deleted on chromosome ten （PTEN） were increased in liver tissue of rats （P＜0.01）. The results of in vitro experiments showed that drug-containing serum of alcoholic extract from S. comosa significantly inhibited the expression of miRNA-21 at low， medium and high concentrations （P＜0.01）； whereas after transfection with miRNA-21 mimics， it was found that miRNA-21 mimics significantly increased mRNA and protein expressions of PI3K and Akt （P＜0.01）， while significantly decreased mRNA and protein expressions of PTEN （P＜0.01）； after transfection with miRNA-21 inhibitor， the changes of above indexes were opposite to the above results （P＜0.01）. CONCLUSIONS Alcoholic extracts of S. comosa may inhibit the PI3K/Akt signaling pathway by affecting the expression of miRNA-21， so as to achieve the effect of anti-hepatic fibrosis.

Sphingomyelin synthase 2 regulates the malignant biological behaviors of ovarian cancer TOV-21G cells through Wnt/β-catenin pathway / 中国肿瘤生物治疗杂志

@#[摘 要] 目的：探讨鞘磷脂合成酶2（SMS2）是否通过Wnt/β-catenin信号通路调控卵巢癌（OC）TOV-21G细胞增殖、迁移、侵袭、凋亡及其机制。方法：收集武汉市第三医院2022年7月至2023年5月间确诊的21例OC患者的癌及癌旁组织标本，免疫组化法检测OC组织SMS2表达水平。体外培养TOV-21G细胞，将细胞分为对照组、shRNA慢病毒阴性对照组（sh-NC组）、SMS2 shRNA慢病毒组（sh-SMS2组）、Wnt/β-catenin通路激活剂组LiCl（LiCl组）和sh-SMS2+LiCl组。Edu染色法、Transwell法、流式细胞术分别检测各组细胞的增殖、迁移和侵袭能力及凋亡水平，WB法检测细胞中SMS2、Ki67、cyclin D1、BAX、c-caspase3、Bcl-2及Wnt/β-catenin通路蛋白（β-catenin、c-Myc、MMP-9）的表达。构建TOV-21G细胞裸鼠移植瘤模型，观察敲低SMS2对移植瘤生长和SMS2、β-catenin表达的影响。结果：与癌旁组织比较，OC组织中SMS2呈高表达（P<0.01）。转染sh-SMS2后，TOV-21G细胞中SMS2表达水平显著降低（P<0.05），细胞的增殖、迁移和侵袭能力及Bcl-2、β-catenin、c-Myc、MMP-9蛋白表达均显著降低（均P<0.05），细胞凋亡率、BAX、c-caspase3蛋白表达均显著升高（均P<0.05）；LiCl处理能逆转敲低SMS2对TOV-21G细胞增殖、迁移和侵袭及Wnt/β-catenin通路的抑制作用（均P<0.05）。体内成瘤实验显示，敲低SMS2抑制裸鼠移植瘤的生长及SMS2、β-catenin蛋白的表达（均P<0.05）。结论：敲低SMS2表达通过Wnt/β-catenin信号通路抑制OC TOV-21G细胞的增殖、迁移、侵袭并促进细胞凋亡，同时LiCl处理则能逆转敲低SMS2对TOV-21G细胞增殖、迁移和侵袭的抑制作用。

Mechanism of Qizhu Kang'ai Prescription for Inhibiting Proliferation of Hepatocellular Carcinoma by Regulating Tumor Metabolic Reprogramming via PCK1/Akt/p21 Signal Axis / 中国实验方剂学杂志

ObjectiveTo study the effect of Qizhu Kang'ai prescription （QZAP） on the gluconeogenesis enzyme phosphoenolpyruvate carboxykinase 1 （PCK1） in the liver of mouse model of liver cancer induced by diethylnitrosamine （DEN） combined with carbon tetrachloride （CCl4） and Huh7 cells of human liver cancer， so as to explore the mechanism on regulating metabolic reprogramming and inhibiting cell proliferation of liver cancer cells. MethodDEN combined with CCl4 was used to construct a mouse model of liver cancer via intraperitoneal injection. A normal group， a model group， and a QZAP group were set up， in which QZAP （3.51 g·kg-1） or an equal volume of normal saline was administered daily by gavage， respectively. Serum and liver samples were collected after eight weeks of intervention. Serum alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， γ-glutamyltransferase （γ-GT）， and alpha-fetoprotein （AFP） in mice were detected to evaluate liver function changes of mice in each group. Hematoxylin-eosin （HE） staining and Sirius red staining were used to observe pathological changes in liver tissue. In the cell experiment， Huh7 cells were divided into blank group， QZAP low， medium， and high dose groups and/or PCK1 inhibitor （SKF-34288 hydrochloride） group， and Sorafenib group. The corresponding drug-containing serum and drug treatment were given， respectively. Cell counting kit-8 （CCK-8） method， colony formation experiment， Edu fluorescent labeling detection， intracellular adenosine triphosphate （ATP） content detection， and cell cycle flow cytometry detection were used to evaluate the proliferation ability， energy metabolism changes， and change in the cell cycle of Huh7 cells in each group. Western blot was used to detect the protein expression levels of PCK1， serine/threonine kinase （Akt）， phosphorylated Akt （p-Akt）， and cell cycle-dependent protein kinase inhibitor 1A （p21）. ResultCompared with the model group， the pathological changes such as cell atypia， necrosis， and collagen fiber deposition in liver cancer tissue of mice in the QZAP group were alleviated， and the number of liver tumors was reduced （P<0.01）. The serum ALT， AST， γ-GT， and AFP levels were reduced （P<0.01）. At the cell level， compared with the blank group， low， medium， and high-dose groups of QZAP-containing serum and the Sorafenib group could significantly reduce the survival rate of Huh7 cells （P<0.01） and the number of positive cells with Edu labeling （P<0.01） and inhibit clonal proliferation ability （P<0.01）. The QZAP groups could also reduce the intracellular ATP content （P<0.05） and increase the distribution ratio of the G0/G1 phase of the cell cycle （P<0.05） in a dose-dependent manner. Compared with the model group and blank group， PCK1 and p21 protein levels of mouse liver cancer tissue and Huh7 cells in the QZAP groups were significantly reduced （P<0.05，P<0.01）， and the p-Akt protein level was significantly increased （P<0.01）. Compared with the blank group， the ATP content and cell survival rate of Huh7 cells in the SKF-34288 hydrochloride group were significantly increased （P<0.05）， but there was no statistical difference in the ratio of Edu-positive cells and the proportion of G0/G1 phase distribution. Compared with the SKF-34288 hydrochloride group， the QZAP combined with the SKF-34288 hydrochloride group significantly reduced the ATP content， cell survival rate， and Edu-positive cell ratio of Huh7 cells （P<0.05） and significantly increased the G0/G1 phase distribution proportion （P<0.05）. ConclusionQZAP may induce the metabolic reprogramming of liver cancer cells by activating PCK1 to promote Akt/p21-mediated tumor suppression， thereby exerting an anti-hepatocellular carcinoma proliferation mechanism.

Formando médicos para el siglo XXI: El rol crucial de la educación basada en competencias / Training physicians for the 21st century: The crucial role of competency-based education

A lo largo de la historia, el campo de la medicina se ha adaptado a las necesidades cambiantes de la sociedad y del sistema sanitario. Ante esa situación, surge la necesidad de plantear la transformación de la formación médica mediante un enfoque basado en las competencias y así definir el perfil de un médico para el siglo XXI. El presente artículo tiene por objetivo analizar y describir el rol de la formación basada en competencias en la formación médica en la preparación de los estudiantes de medicina. Para tal fin, se ha llevado a cabo una exhaustiva revisión bibliográfica en la que se analizan los conceptos clave de la formación médica basada en competencias. Los resultados destacan la importancia de integrar el desarrollo de habilidades en la formación médica teniendo en cuenta los factores sociales y culturales, así como fomentar la reflexión crítica en la formación médica. Se concluye que la educación médica debe adaptarse a las demandas cambiantes del campo, con la participación de diversas partes interesadas y la evolución de los métodos de enseñanza.

Throughout history, the field of medicine has adapted to the changing needs of society and the healthcare system. Faced with this situation, the need arises to consider the transformation of medical education through a competency-based approach and thus define the profile of a physician for the 21st century. The aim of this article is to analyze the role of competency-based training in medical education and its impact on the preparation of medical students. To this end, an exhaustive literature review has been carried out in which the key concepts of competency-based medical education are analyzed. The results highlight the importance of integrating skills development in medical education taking into account social and cultural factors, as well as encouraging critical reflection in medical education. It is concluded that medical education must adapt to the changing demands of the field, involving diverse stakeholders and evolving teaching methods.

Função reprodutiva em portadoras de hiperplasia adrenal congênita: revisão narrativa da literatura / Reproductive health of patients with congenital adrenal hyperplasia: a narrative review

A hiperplasia adrenal congênita (HAC) pode cursar com redução da fertilidade na mulher. Entretanto, nos casos em que ocorre gestação, os recém-nascidos das por- tadoras de hiperplasia adrenal congênita exibem risco de hiperandrogenismo, com todas as suas consequências. A presente revisão atualiza o tema, considerando também as necessidades da assistência a essas pacientes. A busca identificou 294 artigos na base de dados MEDLINE/PubMed de 1961 a março/2023, e os resultados mostraram que as portadoras de hiperplasia adrenal congênita exibem significativa redução da fertilidade. Nos casos de interesse de gestação, as portadoras de hiper- plasia adrenal congênita devem fazer um planejamento reprodutivo, envolvendo a fase antenatal, o acompanhamento pré-natal especializado, o parto e o aleitamento.

Congenital adrenal hyperplasia may lead to reduced male and female fertility. Mo- reover, when the pregnancy occurs, the newborns of patients with congenital adrenal hyperplasia are at risk of hyperandrogenism with all its consequences. This review updates the theme and emphasizes assistance needs. The search identified 294 ar- ticles in the MEDLINE/PubMed database from 1961 to March/2023, and the results showed that patients with congenital adrenal hyperplasia truly exhibit a significant reduction in fertility. In cases of interest in pregnancy, patients with congenital adre- nal hyperplasia should carry out reproductive planning, involving the antenatal pha- se, specialized prenatal care, till delivery and breastfeeding.

Depression, Anxiety, and Stress Scale: Factor validation during the first COVID-19 lockdown in Mexico

Introduction: Globally, mental health problems have affected nearly 1 billion people and approximately 1 in 10 Mexicans. The detection and surveillance of depression, anxiety, and stress in Mexico requires more reliable and valid instruments. Objective: To determine the factor validity and internal consistency of the Depression, Anxiety, and Stress Scale-21 items (DASS-21) in a non-probabilistic national sample of Mexican adults. Method: Cross-sectional study by means of an online survey of 1 613 Mexican adults aged 18 years and older. The Spanish version of the DASS-21 was used, which evaluates the presence of depressive symptoms, anxiety, and stress. Factor validity was determined by comparing different confirmatory factor analysis models: one-dimensional, three factors (correlated and non-correlated), second order, and bifactor. Results: The application of the bifactor model to the DASS 21, supports its validity for identifying the presence of symptoms of depression, anxiety, and stress, as well as an altered general emotional state in a sample of Mexican adults. Conclusions: The DASS-21 is a theoretically robust instrument useful for research and clinical practice.

Introducción: A nivel global los problemas de salud mental han alcanzado a cerca de 1 billón de personas y aproximadamente a uno de cada diez mexicanos. La detección y vigilancia de depresión, ansiedad y estrés en México demandan instrumentos más confiables y válidos. Objetivo: Determinar la validez factorial y consistencia interna de la Escala de Depresión, Ansiedad y Estrés (DASS-21) en una muestra nacional no probabilística de adultos mexicanos. Método: Estudio transversal por medio de una encuesta en línea entre 1 613 adultos me-xicanos de 18 años o más. Se utilizó la versión en español del DASS-21 que evalúa la presencia de síntomas depresivos, ansiedad y estrés. La validez factorial se determinó mediante la comparación de distintos modelos del análisis factorial confirmatorio: unidimensional; tres factores (correlacionados y no), de segundo orden, y bifactor. Resultados: La aplicación del modelo bifactor al DASS-21 sustenta su validez para identificar la presencia de síntomas de depresión, ansiedad y estrés, así como de un estado general emocional alterado en una muestra de adultos mexicanos. Conclusiones: El DASS-21 es un instrumento teóricamente robusto útil para la investigación y la práctica clínica.

Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review

ABSTRACT Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by CYP21A2 gene mutations, and its molecular diagnosis is widely used in clinical practice to confirm the hormonal diagnosis. Hence, considering the miscegenation of the Brazilian population, it is important to determine a mutations panel to optimise the molecular diagnosis. The objective was to review the CYP21A2 mutations' distribution among Brazilian regions.Two reviewers screened Brazilian papers up to February 2020 in five databases. The pair-wise comparison test and Holm method were used in the statistical analysis. Nine studies were selected, comprising 769 patients from all regions. Low proportion of males and salt-wasters was identified in the North and Northeast regions, although without significant difference. Large gene rearrangements also had a low frequency, except in the Center-West and South regions (p < 0.05). The most frequent mutations were p.I172N, IVS2-13A/C>G, p.V281L and p.Q318X, and significant differences in their distributions were found: p.V281L was more frequent in the Southeast and p.Q318X in the Center-West and Northeast regions (p < 0.05). Thirteen new mutations were identified in 3.8%-15.2% of alleles, being more prevalent in the North region, and six mutations presented a founder effect gene. Genotype-phenotype correlation varied from 75.9%-97.3% among regions. The low prevalence of the salt-wasting form, affected males and severe mutations in some regions indicated pitfalls in the clinical diagnosis. The good genotype-phenotype correlation confirms the usefulness of molecular diagnosis; however, the Brazilian population also presents significant prevalence of novel mutations, which should be considered for a molecular panel.

El Síndrome De Down al pasar de los años

El síndrome de Down es una condición genética muy conocida, causada por una alteración cromosómica numérica caracterizada por la presencia de un tercer cromosoma 21. Tiene una distribución mundial, en todas las razas y data de hace cientos de años. Bajo el lema "NOS DECIDIMOS", este año se conmemora el Día Mundial del Síndrome de Down, como cada 21 de marzo desde su instauración en el 2011. Este lema se originó en los temas discutidos durante la Convención de las Naciones Unidas sobre los Derechos de las Personas con Discapacidad y fue escogido con el propósito de enfatizar la necesidad de que las personas con este síndrome se involucren en la toma de sus propias decisiones, siendo este un derecho humano básico. El Día Mundial del Síndrome de Down brinda la oportunidad de ampliar panoramas, apoyar la igualdad y la inclusión. (provisto por Infomedic International)

Down syndrome is a well-known genetic condition caused by a numerical chromosomal alteration due to the presence of a third chromosome 21. It has a worldwide distribution, in all races and has been known for hundreds of years. Under the slogan WE DECIDE, this year we commemorate the World Down Syndrome Day, as every 21st of March since it was established in 2011. This motto was originated during the United Nations Convention on the Rights of Persons with Disabilities, and it was selected to emphasize the need for people with this syndrome to be involved in their decision-making process, as it is a basic human right. The World Down Syndrome Day provides an opportunity to broaden panoramas, support equality and inclusion. (provided by Infomedic International)

An assessment of mental health of Mexican and Colombian medical students during the COVID-19 pandemic / Una evaluación de la salud mental de estudiantes de medicina Mexicanos y Colombianos durante la pandemia de COVID-19

Abstract Introduction The COVID-19 pandemic caused the cessation of academic activities from the face-to-face format to confinement and virtual classes, in which little is studied about its effect on mental health. Objective Determine levels of depression, anxiety, and stress in medical students in Mexico and Colombia during the COVID-19 pandemic. Furthermore, depression, anxiety, and stress were compared by gender, education status, and country. Method A cross-sectional study was carried out with 426 medical students. Data was collected using an online survey containing the Depression, Anxiety, Stress Scale (DASS-21) questionnaire. Results Overall scores for depression, anxiety, and stress were 6.7 ± 1.2, 8.8 ± 1.2, and 5.6 ± 1.2, respectively. Females had significantly higher overall scores for depression (.24-fold increase), anxiety (.25-fold increase), and stress (.40-fold increase) than males (p ≤ .01). The risk for anxiety and stress by school year showed that basic years were associated with higher scores than advanced years (.25 and .38-fold increase, respectively). For females, starting medical school did show an increased risk of depression when compared to male students in their basic years (.38-fold increase). Lastly, students from Mexico had an increased risk for depression and anxiety (p ≤ .022 and p ≤ .004, respectively) but not for stress (p ≤ .402), when compared to students from Colombia. Discussion and conclusion Significant anxiety and depression were observed in medical students from Mexico and Colombia. Factors associated with an increased risk of depression and anxiety are students in their basic years as well as being female.

Resumen Introducción La pandemia de COVID-19 provocó el cese de las actividades académicas desde el formato presencial al confinamiento de las clases virtuales, de las que poco se ha estudiado sobre su efecto en la salud mental. Objetivo Determinar los niveles de depresión, ansiedad y estrés en estudiantes de medicina de México y Colombia durante la pandemia de COVID-19; además de comparar depresión, ansiedad y estrés por género, nivel educativo y país. Método Se realizó un estudio transversal con 426 estudiantes de medicina. Los datos se recopilaron mediante una encuesta en línea que contenía el cuestionario DASS-21. Resultados Las puntuaciones generales de depresión, ansiedad y estrés fueron 6.7 ± 1.2, 8.8 ± 1.2 y 5.6 ± 1.2, respectivamente. Las mujeres tuvieron puntajes generales significativamente más altos para depresión (.24-fold increase), ansiedad (.25-fold increase) y estrés (.40-fold increase). El riesgo de ansiedad y estrés por año escolar mostró que los años básicos se asociaron con puntajes más altos que los estudiantes en años los avanzados (.25 y .38-fold increase). Para las mujeres, cursar años básicos mostró un mayor riesgo de depresión en comparación con los estudiantes varones (.38-fold increase). Por último, los estudiantes mexicanos tuvieron un mayor riesgo de depresión y ansiedad (p ≤ .022 y p ≤ .004, respectivamente) pero no de estrés (p ≤ .402) en comparación con los estudiantes Colombianos. Discusión y conclusión Se observó ansiedad y depresión significativas en estudiantes de medicina mexicanos y colombianos. Los factores asociados a un mayor riesgo de depresión y ansiedad fueron; ser estudiante en años básicos además de ser mujer.

Mental Health of University Students in Northern Malaysia

Context/Background: Today, poor mental health is one of the most neglected diseases although it is one of the leading causes of disabilities in both developed and developing countries. This mental health issue be-comes a problem among university students too. This study was aimed to determine the prevalence and asso-ciated factors of depression, anxiety, and stress (DAS) among university students. Methodology: A cross-sectional study was carried out in a private university of northern Malaysia during 2020. A random sample of 161 students were included and DASS-21 was used to determine the prevalence of DAS. Multiple logistic regression analysis was performed to examine the associated factors. Results: The prevalence of DAS among students were 34.8%, 42.2%, and 33.5%, respectively. In contrast to years 2 and 4, the prevalence of all types of mental disorders were lower in years 1 and 3. The students’ living area, residence, academic year, and parental income were significantly associated with anxiety whereas the age group of the students and parent’s income did so for depression. The variables; age group, academic year and parent’s income were identified as significant determinants for the presence of stress among students. Conclusions: The significant extent of the mental health problems was detected among university students in Malaysia. Despite the small sample, this analysis indicates that opportunities exist to improve campus-based mental health education and psychological support among university students.

Trait emotional intelligence as predictor of psychological health in undergraduate medical students: A hierarchical multiple regression approach

Objectives: Trait emotional intelligence (TEI) is a key personality construct by which an individual recognizes, understands, expresses and regulates emotions in self and others to adapt to environments or achieve one’s goals. TEI skills are modifiable and have a potential to significantly influence psychological health (PH) of a person. The aims of current work were to evaluate relationship between TEI and PH of medical students and to explore the incremental validity of TEI to predict psychological distress beyond sociodemographic and educational factors in them. Materials and Methods: One hundred and thirty-two medical students (mean age 18.02 years) participated in this cross-sectional study. TEI and PH were assessed using TEI questionnaire short form (TEIQue-sf) and depression, anxiety and stress scale (DASS-21), respectively. Hierarchical multiple regression analysis was carried out to determine if scores on TEIQue-sf added significantly to the prediction of psychological symptoms in medical students. Results: There was a significant negative association (r = ?0.57, P < 0.001) between TEIQue-sf and DASS-21 scores. Hierarchical regression analyses revealed that after controlling for sociodemographic and educational variables, TEIQue-sf scores explained a statistically significant increment of variance (P < 0.001) in DASS-21 scores. TEI emerged as best predictor of psychological distress of medical students followed by educational factors. However, sociodemographic profile as an attribute failed to demonstrate significant capacity to predict PH of our participants. Conclusion: Our results indicate that TEI is a robust and unique predictor of better PH and plays a positive role in promoting psychological well-being

STUDY OF DEPRESSION, ANXIETY & STRESS AMONG FAMILY MEMBERS OF HOSPITALIZED COVID-19 PATIENTS IN A TERTIARY CARE HOSPITAL OF CENTRAL GUJARAT

Background: COVID-19 pandemic has caused mental health issues along with physical, social, and economic issues in both patients and their relatives.COVID-19-positive patients were hospitalized in isolation with no or limited access to relatives. These conditions may have contributed to signi?cant psychological distress in relatives and this study was designed to assess the same. To ?nd the prevalence of Depression, Anxiety, and Stress Objectives: among Relatives of hospitalized COVID-19 patients. A cross-sectional quantitative tertiary care hospital-based Methods: study was conducted after approval from Institutional Human Ethics Committee. Relatives of hospitalized COVID-19 patients were assessed by purposive sampling method using Semi-Structured Performa including socio-demographic details, illness- related details, and DASS-21 (Depression, Anxiety, and Stress scale-21) via a telephonic mode of interview. A total of Results: 200 relatives of COVID-19 positive turned negative patients were interviewed on the ?rst day of the COVID 19 negative report. Majority of participants were male,mean age 41 years,literate,married & having ?rst degree relation with the patient. The prevalence of Depression, Anxiety and Stress was 12%. On individual parameters, Depression, Anxiety and Stress was found 25%,21%,and 20% respectively. Female relatives were signi?cantly associated with depression (?2= 8.689,P=.003) & anxiety(?2= 5.790,P=.016) where as longer hospitalization was signi?cantly associated with anxiety(?2= 10.216,P=.006) and stress(?2= 8.936,P=.011). Relatives of COVID-19 patients had a signi?cant amount of psychological stress. Conclusions: Female gender of relatives and longer duration of hospitalization of patients were important predictors.

Cirugía plástica facial en niños con síndrome de Down / Facial Plastic Surgery in Children with Down Syndrome

Introducción: El síndrome de Down comprende diversos grados de retraso mental y un número de rasgos característicos en su facies. Debido a que estos pacientes presentan problemas en la vida social, laboral y educacional se han buscado soluciones que hagan de estos niños, individuos socialmente útiles. Este artículo muestra los resultados obtenidos en 22 pacientes con este síndrome que fueron tratados quirúrgicamente para corregir sus estigmas faciales. Objetivo: Demostrar los cambios funcionales y ventajas estéticas que se obtienen con la cirugía plástica facial en el paciente con síndrome de Down. Métodos: Se escogieron 22 pacientes con síndrome de Down de 3 a 14 años de edad en el período comprendido de 1986 a enero 2019. Se incluyeron los 15 primeros casos atendidos en el Hospital Pediátrico Docente William Soler en el Servicio de Cirugía Plástica y posteriormente en otros centros nacionales de salud. Los procederes quirúrgicos realizados para la corrección de los estigmas faciales fueron: glosectomía parcial, cantoplastia lateral, cantoplastia media y otoplastia. Resultados: Los cambios estéticos y funcionales fueron favorables, lo que mejoró la apariencia y eliminó los rasgos no atractivos. Se obtuvieron cambios positivos en el lenguaje y la respiración. La glosectomía y cantoplastia se realizó en el 100 por ciento de los casos. Conclusiones: Todos los pacientes operados atenuaron sus estigmas faciales, mientras que se reportaron beneficios respiratorios y mejoría en la esfera del lenguaje. El grado de satisfacción de los padres fue bueno(AU)

Introduction: Down syndrome comprises varying degrees of mental retardation and a number of characteristic facial features. Because these patients present problems in their social, occupational and educational life, solutions have been sought to make these children socially useful individuals. This work shows the results obtained in 22 patients with this syndrome who were surgically treated to correct their facial stigmata. Objective: To show the functional changes and aesthetic advantages obtained with facial plastic surgery in patients with Down syndrome. Methods: A number of 22 patients with Down syndrome aged 3 to 14 years were chosen, in the period from 1986 to January 2019. The first 15 cases attended in the plastic surgery service of Hospital Pediátrico Docente William Soler were included; later, others attended in other national health centers. The surgical procedures performed for the correction of facial stigmata were partial glossectomy, lateral canthoplasty, medial canthoplasty, and otoplasty. Results: Aesthetic and functional changes were favorable, improving appearance and eliminating unattractive features. Positive changes in speech and breathing were obtained. Glossectomy and otoplasty were performed in 100 percent of cases. Conclusions: All operated-on patients attenuated their facial stigmata, while respiratory benefits and speech improvement were reported. The degree of satisfaction of their parents was good(AU)