TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.

Progressive kidney failure is a genetically and clinically heterogeneous group of disorders. Podocyte foot processes and the interposed glomerular slit diaphragm are essential components of the permeability barrier in the kidney. Mutations in genes encoding structural proteins of the podocyte lead to the development of proteinuria, resulting in progressive kidney failure and focal segmental glomerulosclerosis. Here, we show that the canonical transient receptor potential 6 (TRPC6) ion channel is expressed in podocytes and is a component of the glomerular slit diaphragm. We identified five families with autosomal dominant focal segmental glomerulosclerosis in which disease segregated with mutations in the gene TRPC6 on chromosome 11q. Two of the TRPC6 mutants had increased current amplitudes. These data show that TRPC6 channel activity at the slit diaphragm is essential for proper regulation of podocyte structure and function.

Irritable Bowel Syndrome in medical students at a Peruvian university: a cross-sectional study.

Background: Irritable Bowel Syndrome has emerged as a significant public health challenge, particularly relevant in medical students due to the high demands of their studies, academic stress, and susceptibility to eating disorders. Nevertheless, conclusive evidence regarding the factors associated with Irritable Bowel Syndrome in the Latin American student population remains limited. The objective of this study was to determine the prevalence and factors associated with Irritable Bowel Syndrome in Human Medicine students at a university in northern Peru. Methods: A cross-sectional analytical study conducted in Lambayeque, northern Peru. With 403 Human Medicine students (66.5% female, 33.5% male). A simple random probabilistic sampling type was used, based on a list of students enrolled. A multivariate analysis was conducted to determine the factors associated using simple and multiple regression models. Generalized Linear Models were applied, using the Poisson distribution family, robust variance, and the academic year as a cluster. Results: The prevalence of Irritable Bowel Syndrome was 16.9% (95% CI: 13.37-20.86). The median age was 21 years, with 66.5% being female. In the multiple regression analysis, Irritable Bowel Syndrome was associated with a higher prevalence of depression (PR: 3.63; 95% CI: 1.26-10.49) and eating disorders (PR: 1.57; 95% CI: 1.01-2.43). For each additional year of age, the prevalence of Irritable Bowel Syndrome decreased by 9% (PR: 0.91; 95% CI: 0.83-0.99). Conclusion: This study reveals that approximately two out of every 10 students exhibit symptoms related to IBS, underscoring its significance in the Human Medicine student population. Furthermore, depression and eating disorders were identified as significant factors associated with IBS in students. Consequently, it is essential to focus efforts on early identification and the implementation of preventive measures to mitigate the development of this pathology, given its substantial prevalence in this context of Human Medicine students.

Irritable bowel syndrome and erectile dysfunction in medical students at a Peruvian university: an analytical cross-sectional analysis.

Background: There is inconclusive evidence regarding the role of irritable bowel syndrome (IBS) in the development of erectile dysfunction (ED), especially among medical students due to high academic stress. Aim: To determine the association between IBS and ED in medical students from a Peruvian university in 2022. Methods: An analytical cross-sectional study was conducted with secondary data analysis on 133 medical students from a university in northern Peru during the 2021-II academic semester. The dependent variable was ED as measured with the 5-item International Index of Erectile Function, and the exposure variable was IBS as assessed with the Rome IV-Bristol questionnaire. Outcomes: The results were the prevalence rates of IBS and ED and the association of these variables. Results: Of the 133 medical students surveyed, the median age was 22 years (IQR, 19-24). The median score on the 5-item International Index of Erectile Function was 21 (IQR, 10-24). The prevalence of ED was 38.4% (95% CI, 30.05%-47.17%). Among the medical students 3% and 9% displayed moderate and severe ED, respectively, and 24.8%, 13.5%, and 24.1% showed moderate depressive, anxious, and severe symptoms. An overall 10.5% had IBS. Medical students with IBS had a 108% higher prevalence of ED than those without the syndrome (prevalence ratio, 2.08; 95% CI, 1.06-4.06). Other confounding variables were not significantly associated (P > .05). Clinical Implications: The results underline the importance of comprehensive sexual and mental health assessment, with an emphasis on the relationship between IBS and ED in medical students. Strengths and Limitations: Strengths include the use of validated and reliable instruments and rigorous biostatistical methods, and this is the first Peruvian investigation to explain the association between IBS and ED in medical students. Limitations include the cross-sectional design and nonprobability sampling, and there may be bias in applying the instruments. Conclusion: This study reveals a significant association between IBS and a higher prevalence of ED in these students.

Depression, anxiety, and stress in medical students in Peru: a cross-sectional study.

Objective: To determine the prevalence and factors associated with depressive, anxious, and stress symptoms in medical students in Peru, during the second pandemic wave of COVID-19. Methods: We conducted an analytical cross-sectional study in 405 medical students from a university in northern Peru. The DASS-21 instrument was used to evaluate mental health outcomes (depression, anxiety, and stress), and to investigate their association with socio-educational characteristics. Results: We found a prevalence of depressive, anxious, and stress symptoms of 71.6% (95% CI: 66.94-75.95), 71.9% (95% CI: 67.2-76.2), and 62.7% (95% CI: 57.8-67.4); respectively. Students with eating behavior disorders had a higher prevalence of depressive symptoms (PR: 1.35), anxious symptoms (PR: 1.27), and stress symptoms (PR: 1.31). The prevalence of depressive symptoms (PR: 1.57), anxious symptoms (PR: 1.27), and stress symptoms (PR: 1.24) increased in students who did not report regular physical activity. In addition, having almost always academic exhaustion increased the prevalence of depressive symptoms (PR: 1.46), stress symptoms (PR: 1.72). On the contrary, the prevalence of depressive symptoms (PR: 0.79), anxious symptoms (PR: 0.73) and stress symptoms (PR: 0.82) decreased in male students. Students who reported sleeping 8 or more hours daily had a lower prevalence of stress symptoms (PR: 0.82). Conclusion: Symptoms of depression and anxiety occurred in 7 out of 10 students, and stress in 6 out of 10. Among the factors associated with the presence of anxiety, depression, and stress were eating behavior disorder and not regularly exercising. Periodic evaluations of mental symptomatology are required and counseling should be promoted in medical schools.

Hepatitis C virus seroprevalence in multi-transfused patients in Colombia.

BACKGROUND: Hepatitis C Virus (HCV) infection is a public health problem worldwide, with particular relevance in multi-transfused patients given that HCV is principally transmitted by exposure to infected blood. STUDY DESIGN: Between February and September 2003 a cross-sectional study was carried out in four hospital centres in Bogotá and Medellin, Colombia, to determine the risk factors for HCV infection in 500 multi-transfused patients. RESULTS: The study population was distributed in five groups: haemophilia, haemodyalsis, acute bleeding, ontological illnesses and sickle cell disease or thalassemia. Serum samples from patients were tested for HCV antibodies (Asxym, Abbott). An overall prevalence (9.0%; 95% confidence interval (CI): 6.4-11.6) (45/500) of HCV infection was found. Anti-HCV antibodies were detected in 32.2% of patients with haemophilia, 6.1% of patients undergoing haemodialysis, 7.1% of patients with sickle cell disease or thalassemia, 2.6% of patients with acute bleeding and 3.4% of patients with ontological or hematological diseases. The main risk factors associated with infection by HCV were: to be hemophilic (odds ratio, OR = 18.03; 95% Cl: 3.96-114.17), having received transfusions before 1995 (OR = 12.27; 95% Cl: 5.57-27.69), and having received more than 48 units of blood components (OR = 6.08; 95% CI: 3.06-12.1). In the multivariate analysis, only the year of transfusions (before 1995) remained significantly associated with risk of infection by HCV. CONCLUSIONS: The data show a 3-fold reduction in the infection risk between 1993 and 1995, when the serological screening for HCV in blood donors was being introduced. A reduction greater than 90% was achieved by 1995 when the screening coverage reached 99%.

Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.

Mutations in the alpha-actinin-4 gene (ACTN4) cause an autosomal dominant form of focal segmental glomerulosclerosis (FSGS). A mutational analysis was performed of ACTN4 in DNA from probands with a family history of FSGS as well as in individuals with nonfamilial FSGS. The possible contribution of noncoding variation in ACTN4 to the development of FSGS also was assessed. Multiple nucleotide variants were identified in coding and noncoding sequence. The segregation of nonsynonymous coding sequence variants was examined in the relevant families. Only a small number of nucleotide changes that seemed likely to be causing (or contributing to) disease were identified. Sequence changes that predicted I149del, W59R, V801M, R348Q, R837Q, and R310Q changes were identified. For studying their biologic relevance and their potential roles in the pathogenesis of FSGS, these variants were expressed as GFP-fusion proteins in cultured podocytes. F-actin binding assays also were performed. Three of these variants (W59R, I149del, and V801M) showed clear cellular mislocalization in the form of aggregates adjacent to the nucleus. Two of these mislocalized variants (W59R and I149del) also showed an increased actin-binding activity. The I149del mutation segregated with disease; W59R was found to be a de novo mutation in the proband. A total of five ACTN4 mutations that are believed to be disease causing (three reported previously and two novel) as well as a number of variants with unclear contribution to disease now have been identified. The possibility that some of these other variants increase the susceptibility to FSGS cannot be excluded. ACTN4 mutations seem to account for approximately 4% of familial FSGS.

Insuficiencia renal cronica avanzada y embarazo: presentacion de 3 casos / Chronic renal failure and pregnancy: a report of 3 cases

Se han publicado numerosos reportes de embarazo en pacientes con isuficiencia renal cronica, con creatinina (Cr) <- 1.5 mg/dl, pero el embarazo es poco comun con niveles de Cr mayores, principalemente >-3 mg/dl. Es probable que los niveles bajos de progesteron o altos de rplactina jueguen un papel clave aqui. Publicamos tres casos con Cr>-6 mg/dl durante el embarazo y postparto. Recomndamos que en toda mujer embarazada o que planee embarazarse se determine la Cr

There are many reports on pregnancy In chronic renal failure with creatinine (Cr) levels ≤ 1.5 mg/dl, but pregnancy is uncommon when the levels are above this limit and specially over 3 mg/dl. It is likely that hormonal abnormalities involving low progesterone and high prolactine levels play a key role. We report on three cases with Cr levels equal to or greater than 6 mg/dl during pregnancy or after delivery. We recommend that Cr levels be determined in the initial follow-up of any woman who wishes to become pregnant.

Factores no inmunológicos en la progresión de la enfermedad renal

Los factores que determinan la progresión de la enferemdad renal son múltiples y se clasifican en inmunológicos y no inmunológicos. Se hace una revisión de la participación de estos últimos, que comprenden coagulación intra y extracapilar, factores liberados por plaquetas y macrófagos-monocitos, anormalidades metabólicas como hiperlipidemia, hiperfosfatemia, proteínas de la dieta e hiperamonemia, y fianlmente, factores mecánicos como hiperperfusión, hipertension intracapilar, hipertrofia glomerular e hipertensión arterial sistémica. Estos factores convergen a un final común, la esclerosis, tanto del glomérulo como del túbulo-intersticio. No obstante los avances recientes en el estudio de la progresión de la enfermedad renal, permanece sin elucidarse el mecanismo patogénico íntimo

Manifestación de acidosis tubular renal tipo I (distal) como insuficiencia respiratoria

Describimos tres casos de acidosis tubular renal del adulto (ATR), asociada a hipocalemia e insuficiencia respiratoria. Este es el primer informe de esta asociación reportado en la literatura colombiana. Recomendamos en cualquier paciente que se presente con parálisis e insuficiencia respiratoria aguda una evaluación del potasio sérico

Efecto de la infusión temporal de pentoxifilina sobre la relación aporte/consumo de oxígeno en el perioperatorio del paciente de alto riesgo / Effect of a temporary infusion of pentoxifylline on the oxygen delivery/consumption relationships in the high risk surgical patient

Introducción. Se han descrito algunos métodos para tratar de detectar a los portadores de deuda crónica de oxígeno, especialmente en pacientes críticamente enfermos. Con el objeto de encontrar pacientes con sufrimiento tisular crónico en el pre operatorio, se diseño una prueba de estimulación utilizando una metilxantina con efecto sobre determinantes de oxigenación tisular. Material y Métodos. Se estudiaron 10 pacientes sometidos a cirugía de alto riesgo o portadores de patología múltiple. Los pacientes se monitorizaron en forma avanzada y recibieron una infusión de 300 mg de pentoxifilina después de la inducción. Se determinaron parámetros hemodinámicos, respiratorios y de oxigenación tisular. La prueba se consideró positiva cuando se obtenía un incremento superior al 10 por ciento del nivel de exceso de base (EB) con respecto a su basal. Resultados. Se encontró un descenso significativo en los valores de pH (basal: 7.44 ñ 0.02; post infusión: 7.40 ñ0.03; p=0.05) y EB (basal: -2.1 ñ 3; post infusión: -6.0 ñ2; p=0.02). El aporte y consumo de oxígeno incrementaron sus valores en forma no significativa. Discusión. Estos resultados, sugieren que la pentoxifilina condiciona una mejor perfusión de tejidos crónicamente comprometidos, lo cual es evidenciado por el hallazgo de incremento en los niveles de exceso de base