The Bloom Syndrome and Retinoblastoma patient exhibits two RB1 gene mutations in the germline.

Purpose: To report the case of a patient with Bloom Syndrome and retinoblastoma from a genetic perspective. The patient exhibits two RB1 gene mutations in the germline.

Methods: The patient underwent an ultrasound study, followed by enucleation of the left eye.

Regulatory T-cell frequency and function in acute myocardial infarction patients and its correlation with ventricular dysfunction.

A high percentage of patients with acute coronary syndrome develop heart failure due to the ischemic event. Regulatory T (Treg) cells are lymphocytes with suppressive capacity that control the immune response and include the conventional CD4+ CD25hi Foxp3+ cells and the CD4+ CD25var CD69+ LAP+ Foxp3- IL-10+ cells. No human follow-up studies focus on Treg cells' behavior after infarction and their possible relationship with ventricular function as a sign of postischemic cardiac remodeling.

Base excess measured at hospital admission is useful for predicting diabetic ketoacidosis severity and resolution time in adult patients.

Background And Aims: This study aimed to identify the biochemical factors measured at hospital admission that could predict diabetes ketoacidosis (DKA) resolution time in adult patients.

Materials And Methods: This retrospective study included 79 patients >18 years of age. Multivariate analyses were performed to determine which variables might predict DKA resolution time.

[Atrial fibrillation in Mexican population: Differences in presentation, comorbidities and risk factors between men and women].

Objective: To know the epidemiological behavior and associations of AF in Mexican population.

Material And Methods: 8,686 patients from 38 cardiologists participating in REMECAR were analyzed. They were divided by gender and age, the comorbidities studied were obesity, chronic kidney disease (CKD), high blood pressure (HBP), diabetes mellitus (DM), dyslipidemia,stroke, chronic obstructive pulmonary disease (COPD), hypothyroidism, heart failure (HF) and ischemicheart disease (IHD).

[Neuronal ceroid lipofuscinosis. Type 6 late infantile variant in two compound heterozygous siblings with novel mutations].

Introduction: There are 14 forms of lipofuscinosis, among them type 6 in its late childhood form is found, it starts between three and eight years with epilepsy, motor disorders, myoclonus, dysarthria, ataxia and neurological regression associated with vision loss and motor skills, and early death. It occurs from mutations in the CLN6 gene, most patients have homozygote variants associated with consanguinity, and rarely, with compound heterozygote variants.

Case Report: Siblings, started at 4 and 5 years each, with unstable gear, frequent falls and difficult running.

Retinoblastoma: from discovery to clinical management.

The retinoblastoma gene (RB1) was the first tumour suppressor cloned; the role of its protein product (RB) as the principal driver of the G1 checkpoint in cell cycle control has been extensively studied. However, many other RB functions are continuously reported. Its role in senescence, DNA repair and apoptosis, among others, is indications of the significance of RB in a vast network of cellular interactions, explaining why RB loss or its malfunction is one of the leading causes of a large number of paediatric and adult cancers.

Immediate feeding tolerance in patients with mild acute biliary pancreatitis.

Antecedentes: La pancreatitis aguda leve es una inflamación local del páncreas sin complicaciones locales ni falla orgánica. Su manejo consiste en tres elementos básicos: hidratación, analgesia y ayuno. La realimentación se inicia cuando el paciente no tiene dolor y refiere apetito, pero el momento exacto para iniciarla no está previamente documentado.

Analysis of the p53 pathway in peripheral blood of retinoblastoma patients; potential biomarkers.

Loss of retinoblastoma (RB) function in the cone cells during retina development is necessary but not sufficient for retinoblastoma development. It has been reported that in the absence of RB activity, a retinoma is generated, and the onset of retina cancer occurs until the p53 pathway is altered. Unlike other types of cancer, in retinoblastoma the p53 tumour suppressor is mostly wild type, although its two primary regulators, MDMX and MDM2, are commonly dysregulated.

Perinuclear Lamin A and Nucleoplasmic Lamin B2 Characterize Two Types of Hippocampal Neurons through Alzheimer's Disease Progression.

Background: Recent reports point to a nuclear origin of Alzheimer's disease (AD). Aged postmitotic neurons try to repair their damaged DNA by entering the cell cycle. This aberrant cell cycle re-entry involves chromatin modifications where nuclear Tau and the nuclear lamin are involved.

Low levels of alpha-synuclein in peripheral tissues are related to clinical relapse in relapsing-remitting multiple sclerosis: a pilot cross-sectional study.

The protein alpha-synuclein (α-Syn) has been linked to neuroinflammatory conditions. We investigated whether the presence of α-Syn in peripheral tissues is a surrogate of brain inflammatory status in a small group of relapsing-remitting multiple sclerosis (RRMS) patients in a pilot cross-sectional study. Skin biopsies and peripheral blood were sampled from 34 healthy controls and 23 MS patients for measurement of α-Syn levels.

Prevalence of eosinophilic esophagitis: A multicenter study on a pediatric population evaluated at thirty-six Latin American gastroenterology centers.

Introduction And Objective: Eosinophilic esophagitis is a chronic, immune-mediated disease described in case series and publications worldwide. Over the past twenty years, the authors of different studies have attempted to evaluate its incidence and prevalence. The objetive of the present study was to estimate the prevalence of eosinophilic esophagitis in a group of children seen at 36 pediatric gastroenterology centers in ten Latin American countries.

Oral mucositis in paediatric acute lymphoblastic leukemia patients receiving methotrexate-based chemotherapy: case series.

Aim: Oral mucositis (OM) is a painful and inflammatory ulcerative lesion occurring as an adverse effect during chemotherapy in children with acute lymphoblastic leukemia (ALL). This condition may cause significant systemic anomalies such as malnutrition, opportunistic infections, and delay in the chemotherapy course. This report aims to describe a case series of 11 ALL patients treated with methotrexate as chemotherapy agent.

Association of white matter diffusion characteristics and cognitive deficits in temporal lobe epilepsy.

Objective: The purpose of this study was to evaluate the relation between cognitive performance and white matter (WM) integrity in patients with temporal lobe epilepsy (TLE) with mesial temporal sclerosis (MTS).

Methods: We included 26 patients with TLE (10 right, 16 left onset) as well as 24 healthy controls matched for age, gender, and years of education. In addition to quantitative hippocampal volume and transverse relaxation (T2) evaluation, whole-brain WM was analyzed using fractional anisotropy (FA) maps, derived from the diffusion tensor model.

Analysis of the regulatory function of natural killer cells from patients with systemic lupus erythematosus.

Natural killer (NK) cells participate in the regulation of the immune response. However, the immunomodulatory function of NK cells in systemic lupus erythematosus (SLE) is not well understood. The aim of this study was to evaluate the regulatory function of NK cells in SLE patients and to identify the NK cells involved in the pathogenesis of this complex disease.

The Presence of Alpha-Synuclein in Skin from Melanoma and Patients with Parkinson's Disease.

Background: The misfolding and prion-like propagation of the protein α-synuclein (α-syn) is the leading molecular signature in Parkinson's disease (PD). There is a significant coincidence of PD and melanoma that may suggest a shared pathophysiology. This study compared the presence of α-syn in neural crest-derived tissues, such as nevi, melanoma, skin tags, and skin biopsies from patients with PD and healthy controls.

Influenza A (H1N1pdm09)-Related Critical Illness and Mortality in Mexico and Canada, 2014.

Objectives: The 2009-2010 influenza A (H1N1pdm09) pandemic caused substantial morbidity and mortality among young patients; however, mortality estimates have been confounded by regional differences in eligibility criteria and inclusion of selected populations. In 2013-2014, H1N1pdm09 became North America's dominant seasonal influenza strain. Our objective was to compare the baseline characteristics, resources, and treatments with outcomes among critically ill patients with influenza A (H1N1pdm09) in Mexican and Canadian hospitals in 2014 using consistent eligibility criteria.

Parkinson disease and progressive supranuclear palsy: protein expression in skin.

Objective: This study characterizes the expression of tau (p-tau) and α-synuclein (α-syn) by immunohistochemistry in the skin of three different populations: healthy control (HC), Parkinson disease (PD), and progressive supranuclear paralysis (PSP) subjects, with the purpose of finding a biomarker that could differentiate between subjects with PD and PSP.

Material And Methods: We evaluated the presence of p-tau and α-syn in a pilot study in the skin of three distinct groups of patients: 17 healthy subjects, 17 patients with PD, and 10 patients with PSP. Four millimeters punch biopsies were obtained from the occipital area and analyzed by immunohistochemistry using antibodies against α-syn and phosphorylated species of tau.

Hand-assisted Laparoscopic Nephrectomy in Living-donor Kidneys With Multiple Arteries: Experience of a Transplant Center.

Objectives: Hand-assisted laparoscopic nephrectomy is a relatively new procedure in our country. This article reports on one of the largest number of this procedure in kidneys with multiple vessels.

Materials And Methods: We reviewed all cases of hand-assisted laparoscopic nephrectomy from July 2002 to February 2009.

Erratum to: Human papillomavirus types in non-cervical high-grade intraepithelial neoplasias and invasive carcinomas from San Luis Potosí, Mexico: a retrospective cross-sectional study.

[This corrects the article DOI: 10.1186/s13027-015-0027-8.].

Human papillomavirus types in non-cervical high-grade intraepithelial neoplasias and invasive carcinomas from San Luis Potosí, Mexico: a retrospective cross-sectional study.

Background: Viral infections and the burden of high-grade intraepithelial neoplasias (HIN) and invasive carcinomas (IC) associated to infections by human papillomavirus (HPV) types may be prevented by type-specific anti-HPV vaccines. This study determined the prevalence of HPV types in non-cervical HIN and IC diagnosed from 1999 to 2011 at a general hospital in San Luis Potosí, Mexico.

Methods: Review of the 67 formaldehyde-fixed paraffin-embedded non-cervical specimens initially diagnosed as HIN (n = 28) or IC (n = 39) confirmed the presence of tumor tissue in 63 of them and changed the diagnosis of 24 from HIN to low-grade intraepithelial neoplasias, that were excluded from the study.

[Consensus on the diagnostic and therapeutic approach to pain and stress in the newborn].

Pain and stress experienced by the newborn have not been addressed adequately. Infants in neonatal intensive care units often undergo painful and stressful invasive procedures, and inappropriate treatment increases morbidity and mortality. At the 5th Clinical Consensus of the Ibero-American Society of Neonatology, 32 neonatologists from the region were invited to establish recommendations for the diagnosis and treatment of neonatal pain and stress.