Assessment of pressure injury knowledge using PZ-PUKT questionnaire among Indian nurses and the evaluation of impact of an educational intervention on the knowledge scores: A quasi-experimental study.

AIM: To determine the knowledge of pressure injury among Indian nurses using PZ-PUKT questionnaire and to evaluate the effect of an educational intervention on knowledge scores. MATERIALS AND METHODS: A Quasi-experimental study design was used to test the Pressure injury knowledge of 273 nurses in a tertiary care teaching hospital. The Pieper Zulkowski Pressure Ulcer Knowledge Test questionnaire was given as a pre-test prior to education session and re-administered after the activity was completed. RESULTS: The mean score of the pre-test was 48.58 ± 6.75 (C·I 47.8-49.4) and post-test 54.14 ± 7.69 (C·I 53.3-55.1), which showed a statistically significant improvement. In the pre-test, nurses had highest score in the prevention subset while wound subset had the greatest improvement in the post-test. Female participants had a better understanding about Pressure injuries when compared to males. Also, the Assistant Nursing Superintendents and ward in Charge nurses had better knowledge as compared with other nurses. CONCLUSIONS: The knowledge of pressure injury among nurses is limited. Knowledge deficits should be identified and targeted educational interventions should be administered to all the nurses irrespective of their educational level and work experience. Wound certification courses should be instituted so that it gives the nurses a better opportunity to learn about pressure injuries at a certified level. All nurses should undergo periodic training in this ever-evolving field so as to provide the best care to their patients.

Novel Pathogenic Variants Leading to Sporadic Amyotrophic Lateral Sclerosis in Greek Patients.

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive disease that affects motor neurons, leading to paralysis and death usually 3-5 years after the onset of symptoms. The investigation of both sporadic and familial ALS highlighted four main genes that contribute to the pathogenesis of the disease: SOD1, FUS, TARDBP and C9orf72. This study aims to provide a comprehensive investigation of genetic variants found in SOD1, FUS and TARDBP genes in Greek sporadic ALS (sALS) cases. Our sequencing analysis of the coding regions of the abovementioned genes that include the majority of the variants that lead to ALS in 32 sALS patients and 3 healthy relatives revealed 6 variants in SOD1, 19 variants in FUS and 37 variants in TARDBP, of which the SOD1 p.D90A and the FUS c.*356G>A (rs886051940) variants have been previously associated with ALS, while two novel nonsense pathogenic variants were also identified, namely FUS p.R241* and TDP-43 p.Y214*. Our study contributes to the worldwide effort toward clarifying the genetic basis of sALS to better understand the disease's molecular pathology.

Spectrum of genetic variants in bilateral sensorineural hearing loss.

Background: Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified to date. The genetic diagnostic rate varies significantly depending on the population being tested. Countries with a considerably high rate of consanguinity provide a unique resource for studying rare forms of recessive HL. In this study, we identified genetic variants associated with bilateral sensorineural HL (SNHL) using whole-exome sequencing (WES) in 11 families residing in the United Arab Emirates (UAE). Results: We established the molecular diagnosis in six probands, with six different pathogenic or likely pathogenic variants in the genes MYO15A, SLC26A4, and GJB2. One novel nonsense variant, MYO15A:p.Tyr1962Ter*, was identified in a homozygous state in one family, which has not been reported in any public database. SLC26A4 and GJB2 were found to be the most frequently associated genes in this study. In addition, six variants of uncertain significance (VUS) were detected in five probands in the genes CDH23, COL11A1, ADGRV1, NLRP3, and GDF6. In total, 12 variants were observed in eight genes. Among these variants, eight missense variants (66.7%), three nonsense variants (25.0%), and one frameshift (8.3%) were identified. The overall diagnostic rate of this study was 54.5%. Approximately 45.5% of the patients in this study came from consanguineous families. Conclusion: Understanding the genetic basis of HL provides insight for the clinical diagnosis of hearing impairment cases through the utilization of next-generation sequencing (NGS). Our findings contribute to the knowledge of the heterogeneous genetic profile of HL, especially in a population with a high rate of consanguineous marriage in the Arab population.

Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.

Background: Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by increased LDL-cholesterol levels. About 85% of FH cases are caused by LDLR mutations encoding the low-density lipoprotein receptor (LDLR). LDLR is synthesized in the endoplasmic reticulum (ER) where it undergoes post-translational modifications and then transported through Golgi apparatus to the plasma membrane. Over 2900 LDLR variants have been reported in FH patients with limited information on the pathogenicity and functionality of many of them. This study aims to elucidate the cellular trafficking and functional implications of LDLR missense variants identified in suspected FH patients using biochemical and functional methods. Methods: We used HeLa, HEK293T, and LDLR-deficient-CHO-ldlA7 cells to evaluate the subcellular localization and LDL internalization of ten LDLR missense variants (p.C167F, p.D178N, p.C243Y, p.E277K, p.G314R, p.H327Y, p.D477N, p.D622G, p.R744Q, and p.R814Q) reported in multiethnic suspected FH patients. We also analyzed the functional impact of three variants (p.D445E, p.D482H, and p.C677F), two of which previously shown to be retained in the ER. Results: We show that p.D622G, p.D482H, and p.C667F are largely retained in the ER whereas p.R744Q is partially retained. The other variants were predominantly localized to the plasma membrane. LDL internalization assays in CHO-ldlA7 cells indicate that p.D482H, p.C243Y, p.D622G, and p.C667F have quantitatively lost their ability to internalize Dil-LDL with the others (p.C167F, p.D178N, p.G314R, p.H327Y, p.D445E, p.D477N, p.R744Q and p.R814Q) showing significant losses except for p.E277K which retained full activity. However, the LDL internalization assay is only to able evaluate the impact of the variants on LDL internalization and not the exact functional defects such as failure to bind LDL. The data represented illustrate the hypomorphism nature of variants causing FH which may explain some of the variable expressivity of FH. Conclusion: Our combinatorial approach of in silico, cellular, and functional analysis is a powerful strategy to determine pathogenicity and FH disease mechanisms which may provide opportunitites for novel therapeutic strategies.

Stigma, discrimination, and HIV/AIDS knowledge among physicians in Barbados

OBJETIVOS: Dilucidar el alcance de los conocimientos prácticos que tienen los médicos de Barbados sobre el VIH y el sida y su actitud hacia las personas que padecen la enfermedad. MÉTODOS: En el año 2000 la Asociación de Médicos Generales de Barbados llevó a cabo una encuesta para evaluar las opiniones de los socios en torno a asuntos relacionados con el VIH y el sida. Durante un período de dos meses se entrevistó a 203 médicos (76% de los que ejercen en el país). En la encuesta se incluyeron tanto médicos del sector público como de consultorios privados. Las entrevistas fueron individuales y versaron sobre sus actitudes hacia la orientación de los pacientes, conocimientos prácticos, nociones de prácticas inocuas, temor de exponerse al contagio, modo de ver las cuestiones éticas, experiencia con el tratamiento de pacientes con VIH o sida y formación médica continua en el campo de VIH/sida. RESULTADOS: Comparados con los médicos egresados más tarde, los graduados en 1984 o antes habían tratado a menos pacientes con infección por VIH o sida, tenían menos conocimientos de la enfermedad, se inclinaban más a administrar la prueba diagnóstica sin el consentimiento válido del paciente y era menos probable que hubieran asistido a algún curso de formación continua sobre el VIH y el sida. En general, tenían poco conocimiento del tratamiento indicado y 76% no se consideraban capacitados adecuadamente para orientar a los pacientes. Más de 80% dijeron que se sentían bastante seguros atendiendo a pacientes con infección por VIH o sida. De los encuestados, 95% declararon que no entregarían los resultados diagnósticos a terceros sin el consentimiento del paciente, mientras que 33% dijeron que administrarían la prueba detectora sin consentimiento a un paciente grave y 15%, que lo harían si tuvieran que realizar una intervención invasora a un paciente de una población de alto riesgo, como las de homosexuales y trabajadores de la industria sexual. Solo 53% de los médicos habían participado en programas de adiestramiento en el servicio entre 1995 y 1999. CONCLUSIONES: Es preciso que la formación médica en Barbados comprenda la atención de pacientes con infección por VIH o sida, incluidos todos los aspectos, tanto clínicos como afectivos. Para los médicos del sector público debe ser obligatorio asistir a ese tipo de adiestramiento; además, es necesario examinar los planes de estudio de las escuelas de medicina para cerciorarse de que sean completos y actualizados.