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Attention Deficit Hyperactivity Disorder (ADHD) is a highly heritable and prevalent neurodevelopmental disorder that frequently persists into adulthood. Strong evidence from genetic studies indicates that single nucleotide polymorphisms (SNPs) harboured in the ADGRL3 (LPHN3), SNAP25, FGF1, DRD4, and SLC6A2 genes are associated with ADHD. We genotyped 26 SNPs harboured in genes previously reported to be associated with ADHD and evaluated their potential association in 386 individuals belonging to 113 nuclear families from a Caribbean community in Barranquilla, Colombia, using family-based association tests. SNPs rs362990-SNAP25 (T allele; p = 2.46 × 10−4), rs2282794-FGF1 (A allele; p = 1.33 × 10−2), rs2122642-ADGRL3 (C allele, p = 3.5 × 10−2), and ADGRL3 haplotype CCC (markers rs1565902-rs10001410-rs2122642, OR = 1.74, Ppermuted = 0.021) were significantly associated with ADHD. Our results confirm the susceptibility to ADHD conferred by SNAP25, FGF1, and ADGRL3 variants in a community with a significant African American component, and provide evidence supporting the existence of specific patterns of genetic stratification underpinning the susceptibility to ADHD. Knowledge of population genetics is crucial to define risk and predict susceptibility to disease.

Con el objetivo de determinar la prevalencia de automedicación en gestantes y sus características, se realizó un estudio descriptivo transversal. Se entrevistó a 400 gestantes que acudían a control prenatal en el Instituto Nacional Materno Perinatal de Lima. El 10,5% (42 pacientes) se automedicó durante la gestación, el 64,6% opinó que la automedicación puede producir malformaciones congénitas a sus bebes. Los medicamentos consumidos por las gestantes estuvieron en categoría A y B de la clasificación de la Administración de Alimentos y Drogas de EUA (FDA); principalmente, consumieron paracetamol (47,6%) y amoxicilina (16,7%). Todas las mujeres que se automedicaron durante la gestación lo habían hecho antes de estar embarazadas. De acuerdo con estos resultados concluimos que la prevalencia de automedicación en gestantes del estudio es baja, comparado con la literatura internacional.We aim to determine the prevalence of self prescribing behaviour during pregnancy and its characteristics. For this purpose, we designed a cross sectional study and interviewed 400 pregnant women who had their prenatal care at Instituto Nacional Materno Perinatal, Lima. We found that 10.5% of the patients (42 patients) had a self prescribing behavior during pregnancy, 64.5% think that self prescribing behavior can produce congenital malformations. The medications used were classified as type A and B according to the Food and Drug Administration (FDA). Paracetamol was used more frequently (47.6%) followed by amoxicillin (16.7%). All the women who self-prescribed have had this behavior before pregnancy. According to these results, we conclude there is a low prevalence of self-prescribing behavior during pregnancy compared to the international literature.

Objetivo: Determinar las características laborales del médico joven egresado de la Facultad de Medicina San Fernando. Diseño: Estudio observacional, transversal. Lugar: Facultad de Medicina San Fernando, Universidad Nacional Mayor de San Marcos. Participantes: Médicos egresados de la Facultad de Medicina. Intervenciones: Se recolectó datos sociodemográficos, del desempeño laboral, grado profesional, nivel de satisfacción y desempeño extracurricular del pregrado, en 232 médicos egresados de la Facultad de Medicina San Fernando entre 1994 y 2003, elegidos al azar. La recolección se llevó a efecto mediante entrevista directa, telefónica o cuestionario vía correo electrónico. También se obtuvo las notas finales del pregrado de los sujetos. Principales medidas de resultados: Índice de empleo, tipo de labor, desempeño, especialización. Resultados: El 72,4% estuvo representado por varones, 73,2% radicaba en Lima, 19,3% en provincias y 7,5% en el extranjero; 97% tenía trabajo remunerado, 51,4% de ellos tenía 2 o más trabajos; 71% trabajaba en el sector público. El tipo de labor predominante fue el asistencial; 78,8% alcanzaba el desempeño laboral esperado; 64,9% era especialista o estaba en proceso de especialización; 15,4% tenía o estudiaba una maestría. No se encontró relación significativa entre factores del pregrado y las características laborales o profesionales. Conclusiones: El índice de empleo fue alto. El centralismo, trabajo médico múltiple, modelo centrohospitalario público asistencial y la tendencia a la especialización fueron predominantes.

Se presentan los resultados de un estudio descriptivo en 35 pacientes ciegos y débiles visuales matriculados en la Escuela de Ciegos de la provincia Las Tunas. Los pacientes fueron agrupados según categoría visual, sexo, y etiología de baja visión. El sexo masculino fue el más afectado, el mayor número de pacientes eran débiles visuales y las etiologías más frecuentes de baja visión fueron la catarata congénita y la retinopatía de la prematuridadThe results of a descriptive study of 35 blind and impaired vision patients, who study at the School for Blind People in Las Tunas province were presented in this paper. The patients were grouped according to their visual category, sex and etiology of low vision. Males were the most affected, the highest number of patients had impaired vision and the most common causes of low vision were congenital cataract and prematurity retinopathy

Asparagine (N)-linked glycosylation regulates numerous cellular activities, such as glycoprotein quality control, intracellu-lar trafficking, and cell-cell communications. In eukaryotes, the glycosylation reaction is catalyzed by oligosaccharyltransferase (OST), a multimembrane protein complex that is localized in the endoplasmic reticulum (ER). During N-glycosylation in the ER, the protein-unbound form of oligosaccharides (free oligosaccharides; fOSs), which is structurally related to N-glycan, is released into the ER lumen. However, the enzyme responsible for this process remains unidentified. Here, we demonstrate that eukaryotic OST generates fOSs. Biochemical and genetic analyses using mutant strains of Saccharomyces cerevisiae revealed that the generation of fOSs is tightly correlated with the N-glycosylation activity of OST. Furthermore, we present evidence that the purified OST complex can generate fOSs by hydrolyzing dolichol-linked oligosaccharide, the glycan donor substrate for N-glycosylation. The heterologous expression of a single subunit of OST from the protozoan Leishmania major in S. cerevisiae demonstrated that this enzyme functions both in N-glycosylation and generation of fOSs. This study provides insight into the mechanism of PNGase-independent formation of fOSs. [ABSTRACT FROM AUTHOR]

Se analiza la aplicación y los efectos de la legislación sobre la tierra -la Ley 200 de 1936- en la región de Sumapaz. Se verifica como los alcances de esta Ley y sus contradicciones, lejos de frenar el conflicto por la posesión de la tierra, reafirman la legalidad de la gran propiedad y dan al traste con las esperanzas y las expectativas que la masa campesina había cifrado en la pretendida "reforma".

Landazabal Reyes, Fernando (Gral.). El Precio de la Paz. Bogotá, Editorial Planeta, 1985.

El actual conjunto de Normas que regulan la oferta de servicios de planificación familiar por parte de los organismos oficiales de salud en Colombia, tuvo su origen a mediados de 1984. Pese a que los documentos técnicos que especificaban las normas y procedimientos de dicha actividad fueron preparados en el año mencionado, sólo hasta 1987 la División Materno Infantil del Ministerio de Salud Pública pudo contar con una publicación especialmente preparada para hacer conocer las normas de la mayoría de los organismos oficiales de salud, instituciones de educación superior, escuelas de auxiliares de enfermería y otros en el país.

With the advancement of knowledge in relation to the physiopathogenesis of atopic dermatitis (AD), several new therapeutic forms have been developed. There are also new guidelines for self-care. On the other hand, there is still an underdiagnosis of AD in Mexico. Thus, the need was seen to develop a national guide, with a broad base among the different medical groups that care for patients with AD. The Atopic Dermatitis Guidelines for Mexico (GUIDAMEX) was developed with the ADAPTE methodology, with the endorsement and participation of ten national medical societies, from physicians in Primary Healthcare to allergists and dermatologists. Throughout the manuscript, key clinical questions are answered that lead to recommendations and suggestions for the diagnosis of AD (including differential diagnosis with immunodeficiency syndromes), the recognition of comorbidities and complications, non-pharmacological treatment including therapeutic education, treatment of flares and maintenance therapy. The latter encompasses general measures to avoid triggering factors, first-line treatment focussed on repair of the skin barrier, second-line treatment (topical proactive therapy), and third-line phototherapy or systemic treatment, including dupilumab and JAK inhibitors.

Background: In India, tuberculosis (TB) was made a notifiable disease in 2012 and nonnotification was made a punishable offense in March 2018. In 2018, 25% of TB cases notified were from private sector., Objectives: The objective of the study is to assess the proportion of private practitioners (PPs) who notified TB cases to the Revised National Tuberculosis Control Programme (RNTCP) and to identify the facilitating factors and barriers to TB case notification, including channels most preferred for notification., Methodology: This descriptive cross-sectional study was conducted among PPs in urban Puducherry. PPs were included consecutively, and data were collected using a pretested structured questionnaire., Results: Almost 60% (75 of 125) of PPs had dealt with presumptive TB cases in the last 1 year. Only one of 16 PPs who diagnosed and two of four PPs who treated had notified. PPs preferred electronic modes of notification such as e-mail and short messaging service (SMS). Concerns regarding patient confidentiality and delay in collection of notification forms from PPs by RNTCP were the barriers to notification., Conclusions: Notification for TB diagnosis was poor as PPs preferred to refer cases to RNTCP rather than notifying. Only four PPs had initiated TB treatment, of whom two PPs (50%) had notified., Competing Interests: There are no conflicts of interest., (Copyright: © 2021 Indian Journal of Community Medicine.)

Mitchell-Riley syndrome (MRS) is caused by recessive mutations in the regulatory factor X6 gene ( RFX6 ) and is characterised by pancreatic hypoplasia and neonatal diabetes. To determine why individuals with MRS specifically lack pancreatic endocrine cells, we micro-CT imaged a 12-week-old foetus homozygous for the nonsense mutation RFX6 c.1129C>T, which revealed loss of the pancreas body and tail. From this foetus, we derived iPSCs and show that differentiation of these cells in vitro proceeds normally until generation of pancreatic endoderm, which is significantly reduced. We additionally generated an RFX6 HA reporter allele by gene targeting in wild-type H9 cells to precisely define RFX6 expression and in parallel performed in situ hybridisation for RFX6 in the dorsal pancreatic bud of a Carnegie stage 14 human embryo. Both in vitro and in vivo , we find that RFX6 specifically labels a subset of PDX1-expressing pancreatic endoderm. In summary, RFX6 is essential for efficient differentiation of pancreatic endoderm, and its absence in individuals with MRS specifically impairs formation of endocrine cells of the pancreas head and tail., Competing Interests: Competing interestsThe authors declare no competing or financial interests., (© 2020. Published by The Company of Biologists Ltd.)

Fibroblast growth factors (FGFs) comprise a family of signalling molecules with essential roles in early embryonic development across animal species. The role of FGFs in mesoderm formation and patterning in Xenopus has been particularly well studied. However, little is known about FGF16 in Xenopus. Using in situ hybridisation, we uncover the expression pattern of FGF16 during early Xenopus laevis development, which has not been previously described. We show that the zygotic expression of FGF16 is activated in the mesoderm of the early gastrula as a ring around the blastopore, with its first accumulation at the dorsal side of the embryo. Later, FGF16 expression is found in the otic vesicle, the branchial arches and the anterior pituitary, as well as in the chordal neural hinge region of the tailbud. In addition, we show that FGF16 can activate the MAPK pathway and expression of sp5 and sp5l. Like FGF16, sp5 is expressed in the otic vesicle and the branchial arches, with all three of these genes being expressed in the tailbud. These data provide evidence that FGF16 is present in the early mesoderm and can activate the expression of developmentally important transcription factors.

Background: The backbone of food allergy treatment is the restriction of causative foods. These interventions have shown that children who restrict the consumption of basic foods have a higher risk of malnutrition. The aim of the study was to identify the nutritional status of patients with elimination diet, characterizing their anthropometric indexes and identifying the percentage of patients in the group with true food allergies., Methods: A cross-sectional study was carried out from January to October 2014 at the Hospital Infantil de Mexico Federico Gomez. Patients 1 to 11 years of age with a history of elimination of at least one of five foods (eggs, milk, wheat, corn, soybeans) for a minimum of 6 months were included. Full nutritional assessment was performed by comparing the anthropometric indexes to z score for age. Data analysis used descriptive statistics. Kruskal-Wallis and Spearman correlation were performed., Results: The most frequent eliminated foods were milk, soy, eggs, corn, and wheat. Comparing the number of foods eliminated with different anthropometric indexes, with a greater amount of eliminated food, the z-score of weight/age (W/A), height/age (H/A) and weight/height (W/H) were lower and the most affected index was fat reserve. Only in 5% of children was food allergy confirmed., Conclusions: The study confirms the need for nutrition counseling for patients who have elimination diets and overdiagnosis of food allergy., (Copyright © 2015. Publicado por Masson Doyma México S.A.)