Loss-of-Function Variant in PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.

Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next-generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs. Recently, Hughes et al. in 2020 reported the association of loss-of-function (LoF) variants in PPP1R12A with morphological anomalies of the midline, including holoprosencephaly and urogenital malformations, also known as genitourinary and/or brain malformation syndrome (OMIM #618820). In this report, we describe a Mexican individual with hypertelorism, multiple skin hemangiomas, testicular atrophy, and sex reversal, in whom a c.1880delC frameshift variant in PPP1R12A was detected by exome sequencing. Segregation analysis confirmed it as a de novo variant through Sanger sequencing. The main objective of this report is to expand PPP1R12A-related urogenital and/or brain malformation syndrome.

Adherence to Antidepressant Therapies in Patients with Depressive Disorders Attending an Outpatient Clinic in a Public Mental Health Hospital, Antioquia, Colombia in 2017.

To evaluate the level of adherence to antidepressant therapies and associated factors in patients with depressive disorders. a cross-sectional analytical study was conducted in patients diagnosed with depressive disorders. The sample was for convenience, and a survey including sociodemographic, clinical, and therapeutic variables was designed. The Morisky-Green test, Beliefs about Medicines Questionnaire, and Simplified Medication Adherence Questionnaire were also used, all of which have been validated for assessing adherence in patients with depression. The qualitative variables were evaluated with absolute and relative frequencies, and a bivariate analysis was performed. This study included 54 patients with an average age of 49.5 ± 13.7 years, and 83.3% were women. All patients were diagnosed with major depression, and 9.25% also had an anxiety disorder. According to the Morisky-Green test, only 37% of patients were compliant with the drug therapy, although this was not statistically significant. Women were less compliant than men (33.3% versus 55.6%; p = 0.21). The beliefs that patients have regarding medication do not have a great impact on adherence to antidepressant therapy. However, it was evidenced that adherent patients had less doubts about the medication administered in comparison to non-adherent patients.

Ileo-Ileal Intussusception Caused by a Meckel's Diverticulum With Ectopic Pancreatic Tissue: A Case Report.

A Meckel's diverticulum (MD) is an embryonic remnant of the omphalomesenteric duct. Although most MDs are usually asymptomatic, pediatric patients tend to present serious complications more frequently (4-25% of cases), mainly in digestive tract bleeding, intestinal obstruction, and perforation, which have a high potential to compromise the patient's life. An ectopic pancreas (EP) is pancreatic tissue found outside the pancreas, usually in the stomach, duodenum, and jejunum. It is typically asymptomatic but can increase the risk of complications in the MD. A clinical case of a female infant with an MD complicated with bleeding and ileo-ileal intussusception is presented, in which the histopathological finding of type 1 ectopic pancreatic tissue was also found based on the Heinrich classification, being an entity uncommon in our environment. An EP arising within an MD is infrequent, requiring clinical attention and timely preoperative diagnosis to prevent and treat associated severe complications. This continues to be a superior challenge for the clinician and requires a multidisciplinary team for comprehensive treatment.

Anaplastic Lymphoma Kinase (ALK)-Negative Anaplastic Large Cell Non-Hodgkin Lymphoma as a Rare Differential Diagnosis of Lung Cancer: A Case Report.

Anaplastic large cell lymphomas (ALCL) are a group of sporadic malignancies that generally have an aggressive clinical course, especially the subtype of anaplastic lymphoma kinase (ALK)-negative ALCL. The appropriate diagnostic study modalities must be chosen to make an accurate diagnosis and promptly initiate specific treatment. We present the clinical case of a 72-year-old male patient with dyspnea on small efforts accompanied by diaphoresis and a weight loss of 10 kg in two months. Physical examination revealed adenopathy in the cervical region and bilateral pleural effusion. The pleural and lung biopsies revealed poorly differentiated metastatic adenocarcinomas. A multidisciplinary analysis was carried out; the typical clinical-radiographic presentation of adenocarcinoma was ruled out with immunohistochemistry, thus determining a diagnosis of ALK-negative anaplastic large cell non-Hodgkin's lymphoma. This case represented a diagnostic and therapeutic challenge since it is a rare entity with a poor prognosis, and there are only a few studies about the choice of appropriate chemotherapy in these patients.

Obesity hypoventilation syndrome, literature review.

Obesity is a global health concern that has been increasing over the years, and it is associated with several pathophysiological changes affecting the respiratory system, including alveolar hypoventilation. Obesity hypoventilation syndrome (OHS) is one of the six subtypes of sleep-hypoventilation disorders. It is defined as the presence of obesity, chronic alveolar hypoventilation leading to daytime hypercapnia and hypoxia, and sleep-disordered breathing. The existence of a sleep disorder is one of the characteristics that patients with OHS present. Among them, 90% of patients have obstructive sleep apnea (OSA), and the remaining 10% of patients with OHS have non-obstructive sleep hypoventilation without OSA or with mild OSA. This review aims to provide a comprehensive understanding of the epidemiological and pathophysiological impact of OHS and to highlight its clinical features, prognosis, and severity, as well as the available treatment options.

Patient-specific quality assurance of dynamically-collimated proton therapy treatment plans.

BACKGROUND: The dynamic collimation system (DCS) provides energy layer-specific collimation for pencil beam scanning (PBS) proton therapy using two pairs of orthogonal nickel trimmer blades. While excellent measurement-to-calculation agreement has been demonstrated for simple cube-shaped DCS-trimmed dose distributions, no comparison of measurement and dose calculation has been made for patient-specific treatment plans. PURPOSE: To validate a patient-specific quality assurance (PSQA) process for DCS-trimmed PBS treatment plans and evaluate the agreement between measured and calculated dose distributions. METHODS: Three intracranial patient cases were considered. Standard uncollimated PBS and DCS-collimated treatment plans were generated for each patient using the Astroid treatment planning system (TPS). Plans were recalculated in a water phantom and delivered at the Miami Cancer Institute (MCI) using an Ion Beam Applications (IBA) dedicated nozzle system and prototype DCS. Planar dose measurements were acquired at two depths within low-gradient regions of the target volume using an IBA MatriXX ion chamber array. RESULTS: Measured and calculated dose distributions were compared using 2D gamma analysis with 3%/3 mm criteria and low dose threshold of 10% of the maximum dose. Median gamma pass rates across all plans and measurement depths were 99.0% (PBS) and 98.3% (DCS), with a minimum gamma pass rate of 88.5% (PBS) and 91.2% (DCS). CONCLUSIONS: The PSQA process has been validated and experimentally verified for DCS-collimated PBS. Dosimetric agreement between the measured and calculated doses was demonstrated to be similar for DCS-collimated PBS to that achievable with noncollimated PBS.

The Acute Effects of Exercise Intensity on Inhibitory Cognitive Control in Adolescents.

Adolescence is an important stage for brain maturation. There are many studies of exercise-cognition relations, but there is still a lack of knowledge about the impact of combining different intensities of exercise on adolescents' cognitive responses. The main objective of this study was to analyze the effect of three physical education sessions (based on Zumba dance) of different intensities (no exercise, predominantly light intensity, and predominantly vigorous intensity) on the inhibition response (measured with the Stroop test) in adolescents. Forty-four adolescent students (age 16.39 ± 0.68) completed a Stroop test before and after the three different physical education sessions. The results show than the predominantly vigorous session represented the strongest stimulus to increase cognitive inhibitory control. This means that the cognitive effect of exercise can be conditioned by exercise intensity and implies the need to control exercise intensity in physical educational programs for adolescents.

Manifestaciones clínicas y paraclínicas de la hepatitis autoinmune en 48 pacientes de la ciudad de Medellín, 1980-2004 / Clinical and paraclinical manifestations of autoimmune hepatitis in 48 patients from Medellín, Colombia

Objetivo: describir las características clínicas, bioquímicas, histológicas, sociodemográficas y de tratamiento de los pacientes con hepatitis autoinmune (HAI). Metodología: estudio descriptivo retrospectivo de una serie de casos con 48 pacientes de la ciudad de Medellín con diagnóstico de HAI según los criterios del Grupo Internacional de Hepatitis Autoinmune.Resultados: la edad promedio al momento del diagnóstico fue 34 años, 40 pacientes (83.3 por ciento) eran mujeres. Los hallazgos clínicos más frecuentes fueron fatiga (89.6 por ciento) e ictericia (81.3 por ciento). Las medianas de los hallazgos de laboratorio pretratamiento fueron: AST 626 U/L, ALT 547.5 U/L, bilirrubina total 5.64 mg/dL, bilirrubina directa 3.4 mg/dL. Las medianas de los valores de laboratorio postratamiento fueron: AST 40.5 U/L, ALT 44.4 U/L, bilirrubina total 1.1 mg/dL, bilirrubina directa 0.4 mg/dL (p <0.000). El valor promedio de las gamaglobulinas fue 2.2 g/dL; 81.3 por ciento de los pacientes tuvieron biopsia hepática y de ellos 97.4 por ciento tenían hallazgos compatibles con HAI. Cuarenta pacientes tenían anticuerpos antinucleares positivos. Se hallaron enfermedades autoinmunes concurrentes en 19 pacientes, la más frecuente fue la tiroiditis. El tratamiento más frecuentemente administrado fue prednisona más azatioprina en 56.3 por ciento de los pacientes. Cuarenta y un pacientes (85.4 por ciento) respondieron completamente y 12 (25 por ciento) recayeron.Conclusiones: las características sociodemográficas de este grupo de pacientes no son comparables con las encontradas en otras series. Los hallazgos clínicos, histológicos y bioquímicos son similares a los reportados en la literatura, lo que no se observó con las enfermedades autoinmunes asociadas. La mayoría de los pacientes pertenecen al subtipo 1 de la enfermedad.

Consumo de sustancias psicoactivas en estudiantes de carreras técnicas y tecnológicas de Santa Fe de Bogotá, 1997 / Consumption of psychoactive substances in students of technical and technological careers in Santa Fe de Bogota, 1997

El consumo de psicoactivos constituye un problema social ampliamente discutido y documentado, que según los últimos estudios nacionales disponibles se ha incrementado, especialmente en la población joven. Entre los grupos de mayor interés se encuentran los estudiantes de educación superior. La presente investigación aporta a las autoridades locales del Distrito Capital información para conocer la magnitud y la severidad del problema, las sustancias de mayor consumo y algunos factores asociados con éste entre los jóvenes que asisten a instituciones de educación superior clasificadas como institutos técnicos y tecnológicos según el Icfes. La razón para escoger esta población entre los universitarios de Santa Fe de Bogotá es que no existe en el país información sobre el comportamiento del consumo de drogas en ellos, y no fueron incluidos en el estudio sobre consumo de psicoactivos en universitarios con carreras profesionales realizado por la Asociación Colombiana de Investigaciones Médicas en 1997. El objetivo general del estudio fue conocer la frecuencia del consumo de bebidas alcohólicas y de drogas ilícitas, y el comportamiento de los patrones de consumo en la población de estudio, con el fin de aportar información que permita evaluar políticas y estrategias, y reorientar los programas de salud en este campo. Específicamente se busca evaluar tendencias y cambios en los patrones de consumo de sustancias psicoactivas, comparando los hallazgos con otros estudios similares realizados en Colombia y en Santa Fe de Bogotá, y calcular la frecuencia de algunos factores psicosociales relacionados con el consumo de sustancias en la población de estudio.

The use of psychoactive substances is a widely discussed and documented social problem, which according to the latest available national studies has increased, especially in the young population. Among the groups of greatest interest are higher education students. The present research provides the local authorities of the Capital District with information to know the magnitude and severity of the problem, the substances of greatest consumption and some factors associated with it among young people attending higher education institutions classified as technical and technological institutes according to the ICFES. The reason for choosing this population among university students in Santa Fe de Bogotá is that there is no information in the country on drug use behavior among them, and they were not included in the study on psychoactive drug use among university students with professional careers conducted by the Colombian Association of Medical Research in 1997. The general objective of the study was to determine the frequency of consumption of alcoholic beverages and illicit drugs, and the behavior of consumption patterns in the study population, in order to provide information to evaluate policies and strategies, and to reorient health programs in this field. Specifically, the aim is to evaluate trends and changes in the patterns of consumption of psychoactive substances, comparing the findings with other similar studies conducted in Colombia and in Santa Fe de Bogotá, and to calculate the frequency of some psychosocial factors related to substance consumption in the study population.

Mujer ... temas de salud / Women ... themes for health

Presenta tres estudios relacionados con aspectos de la mujer: El embarazo en la Adolescente en Nicaragua, trata de la revisión bibliográfica existente sobre las condiciones de las adolescentes en nuestro país y su relación con el embarazo, la maternidad y sus consecuencias. Aspectos Ginecobstétricos de la violencia Generalizada: Describe las experiencias en el Hospital de la Mujer Bertha Calderón Roque (HBCR), estudio investigativo realizado con la casuística encontrada en todo el año 1993 en el Hospital Bertha Calderón Roque, relacionadon con la violencia de que son víctimas las mujeres que consultaron durante ese período, investigación que logra revisar con mucha certeza los problemasde la violencia contra la mujer, sus agravantes, conclusiones y recomendaciones.Cáncer ginecológico: Estudia las causas de consulta de 97817 pacientes que acudieron por diferentes motivos, lo que constituye el primer estudio de esta magnitud que permitirá hacer inferencia sobre el Cáncer femenino: del cuello uterino, de mama, del cuerpo de útero y otros; el estudio servirá de base al MINSA par revisar, adecuar y actualizar las normas de atención a ésta patología