Translation, cross-cultural adaptation and validation of the General Movement checklist.

Background: The Prechtl's General Movement Assessment (GMA) is a widely accepted tool for predicting neurodevelopmental outcomes in infants. However, access to formal training in GMA is limited in low- and middle-income countries, such as Mexico. This study aimed to validate the Spanish version of the General Movement checklist (GMC), a tool designed to facilitate the evaluation of general movements, particularly for clinicians with limited experience.

Modification of Pelvic Support Osteotomy Technique in Patients with Sequelae of Hip Dysplasia: A Case Series.

Introduction: The management of hip dislocation in patients older than 9 years of age is a challenge in terms of deciding which is the best treatment course to follow since the main sequelae are as follows: pain, discrepancy in the length of the pelvic extremities and lame gait, with the consequent disability for activities of daily living. In Ho Choi, Thabet A mention limited treatment options, including total hip arthroplasty and hip arthrodesis. These options have their benefits and limitations.

Correction to ' and gene polymorphisms increase atherothrombosis susceptibility in middle-aged Mexicans'.

[This corrects the article DOI: 10.1098/rsos.190775.

, , and gene polymorphisms increase atherothrombosis susceptibility in middle-aged Mexicans.

Atherothrombosis is the cornerstone of cardiovascular diseases and the primary cause of death worldwide. Genetic contribution to disturbances in lipid metabolism, coagulation, inflammation and oxidative stress increase the susceptibility to its development and progression. Given its multifactorial nature, the multiloci studies have been proposed as potential predictors of susceptibility.

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Objectives: The genetics of sensorineural hearing loss is characterized by a high degree of heterogeneity. Despite this heterogeneity, DNA variants found within SLC26A4 have been reported to be the second most common contributor after those of GJB2 in many populations.

Methods: Whole exome sequencing and/or Sanger sequencing of SLC26A4 in 117 individuals with sensorineural hearing loss with or without inner ear anomalies but not with goiter from Turkey, Iran, and Mexico were performed.

Multi-Allelic Combination Associated with Obesity and Overweight in Mexican Adolescent Females.

Objective: We studied multi-loci variants to identify the contribution of six candidate genes ( and ) in the development of obesity and overweight.

Design: We genotyped 404 chromosomes with eleven SNPs in Mexican female adolescents, who were subdivided into two groups (obesity-overweight and normal-weight) using the World Health Organization parameters. Genomic (800 chromosomes) and ancestral (208 chromosomes) controls were included to reduce the population bias.

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).

Methods: After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes.

Unique spectrum of GJB2 mutations in Mexico.

Objective: The aim of this study was to elucidate the involvement of mutations in three relatively common deafness genes in Mexican individuals with non-syndromic hearing loss.

Methods: We sequenced GJB2 for mutations, screened for two deletions involving GJB6, del(GJB6-D13S1830) and del(GJB6-D13S1854), and for the m.1555A>G mutation in the MTRNR1 gene in 76 (71 simplex and 5 multiplex) unrelated Mexican probands with prelingual non-syndromic hearing loss.

Leiden V factor and spastic cerebral palsy in Mexican children.

Aim: Cerebral palsy (CP) is a persistent motor disorder that appears before the patient is 3 years old due to a nonprogressive interference in the brain's development which takes place before the central nervous system growth is complete. Causes of this have been studied, and one that has been proposed for spastic hemiparesis CP is the Leiden mutation of V factor coagulation. We want to know whether this mutation can cause CP in our population.

Association of resistance to activated protein with the presence of Leiden and Cambridge Factor V mutations in Mexican patients with primary thrombophilia.

Background: Leiden and Cambridge factor V coagulation mutations and activated protein C resistance (RaPC) are alterations related with vein and artery thrombosis. In this study we aimed to determine whether RaPC is associated with the presence of Leiden and Cambridge mutation and the frequency of these mutations in the racially mestizo Mexican population.

Methods: We included 150 Mexican patients with primary thrombophilia and 100 healthy subjects in this study.

[Capillary electrophoresis, a new diagnostic tool].

Capillary electrophoresis (CE) may replace many conventional clinical laboratory methods, such as electrophoresis, Southern blotting, sequencing and HPLC (High-performance liquid chromatography). It is an ideal technique due to analytical speed, the possibility of handling great amount of samples, its capacity to separate small molecules according to their size, charge, hydrophobic and stereo-specificity its good reproducibility the use of small amounts of sample and reagents, its low costs and easy handling. The diagnosis of hereditary diseases or the predisposition to polygenic diseases related to specific mutations or polymorphisms can be carried out with this method.

[Diagnosis of the peripheral hereditary neuropathies and its molecular genetics].

Peripheral neuropathies include a wide range of pathological disorders characterized by damage of peripheral nerves. Among them, peripheral hereditary neuropathies are a group of frequent illnesses and early evolution. They have been named hereditary motor and sensory neuropathy (HMSN) or peripheral hereditary neuropathies type Charcot-Marie-Tooth (CMT).

[Microarray design using virtual hybridization to study variations in REP-CMT1A sites].

Background: Gene PMP22 is duplicated in patients with CMT1A. Duplication is due to an unequal chromatid interchange during meiosis that takes place between two 24 Kb regions named REP-CMT1A proximal and distal sites. Homology is approximately 98%.

Capillary electrophoresis for the detection of PMP22 gene duplication: study in Mexican patients.

Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the human peripheral nerve, with an estimated overall prevalence of 17-40/10 000 [1]. The typical phenotype presents peroneal muscular atrophy and pes cavus [2]. CMT is usually divided into two large types, about two-thirds of the patients have CMT type 1 (CMT1), that affects the layer of myelin (demyelination).

[Strategies for clinical and molecular diagnosis of Charcot-Marie-Tooth 1A among Mexican patients].

Background: Charcot-Marie-Tooth (CMT) is the most common inherited disorder of the human peripheral nerve. The mos tfrequent subtype, CMT1A, is associated with duplication of approximately 1.5 Mb fragment in 17p11-p12, that includes the PMP22 gene.

[Percutaneous biopsy evaluation in the diagnosis of thoracic and lumbar vertebral destruction syndrome].

Background: The vertebral destruction syndrome is defined as those pathologies affecting the integrity of the vertebral structure, modifying its normal architecture and resulting in neurological deficit. Correct diagnosis is essential to define appropriate treatment. Biopsy, in addition to histopathological study, is a vital element for definitive diagnosis.

[Use of fibrin glue in combination with autologous bone graft as bone enhancer in posterolateral spinal fusion. An experimental study in New Zealand rabbits].

Background: Currently there are different strategies to increase the fusion rate in spine surgery in the presence of autologous bone graft. The use of fibrin glue has multiple applications in surgery, but there is controversy about the use of fibrin glue as a bone enhancer.

Methods: The purpose of the study was to determinate the effectiveness of fibrin glue as a bone enhancer in posterolateral arthrodesis in New Zealand rabbits.

[Surgical treatment for scoliosis. Minimal evolution control at 5 years].

Background: We undertook this study to determine the surgical treatments results performed often to correct scoliosis in the Spinal Surgery Service in the INR/Orthopedics (National Institute of Rehabilitation/Orthopedics), Mexico City.

Methods: We conducted a longitudinal, prospective, descriptive, and clinical study with a deliberated intervention controlled from a historical cohort. One hundred twenty patients with scoliosis were reviewed in whom surgery was performed during 1990-1999.

Oral pathology in a group of Mexican patients with genetic diseases.

Unlabelled: Without considering infectious and traumatic diseases, the great majority of oral cavity diseases have a genetic base, in some cases identifiable, in others not. For the stomatologists it is of great importance to know the clinical characteristics and type of alteration that go with genetic etiology syndromes to be able to offer patients an adequate multidisciplinary treatment.

Objective: Intentional search and description of oral pathology in patients with diverse genetic diseases.

Cockayne's syndrome: a case report. Literature review.

Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption of the primary teeth, congenitally absent of some permanent teeth, partial macrodontia, atrophy of the alveolar process and caries. It could be caused by two gene mutations, CNK1 (ERCC8) and ERCC6, located on the 5 and 10 chromosomes respectively, causing two variations of Cockayne s syndrome, CS-A, secondary to a ERCC8 mutation and CS-B with ERCC6 mutation, the last one causes hypersensitivity to the ultraviolet light secondary to a DNA repair defect.

An 8q21 deletion in a patient with comorbid psychosis and mental retardation.

Systematic investigations indicate that some of the recognized psychiatric disorders can be identified among those with mental retardation due to chromosomal abnormalities. We report a psychotic patient with mild mental retardation (intelligence quotient: 68) and minor anomalies that had a chromosomal aberration not previously described in a psychotic patient. Our patient highlights the importance of the cytogenetic study in psychiatric patients with comorbid mental retardation or minor anomalies.

Incontinentia pigmenti (IP2): familiar case report with affected men. Literature review.

Unlabelled: Incontinentia pigmenti is a genodermatosis described by Garrod and in 1920 by Bloch, Sulzberger, Siemens y Bardach. It is an ectodermic disorder that affects skin, teeth, eyes and may also have neurological problems. The IP2 name describes the histological characteristics, the incontinence of melanin into the melanocytes cells in the epidermal basal layer and its presence in superficial dermis.