Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X.

Turner Syndrome is characterized by a normal X chromosome and the partial or complete absence of a second sexual chromosome. Small supernumerary marker chromosomes are present in 6.6% of these patients.

Family history of thyroid disease and risk of congenital hypothyroidism in neonates with Down síndrome.

Introduction: Family history of thyroid disease (FHTD) constitutes a possible risk factor for congenital hypothyroidism (CH) in the general population; however, FHTD possible relationship with CH in subjects with Down syndrome (DS) has not yet been explored.

Objective: To determine whether FHTD is associated with an increased incidence of CH in neonates with DS.

Method: Hospital-based case-control study in 220 neonates with DS.

The impact of body mass index on blood pressure measured with mercury sphygmomanometer in children and adolescents with type 1 diabetes mellitus.

Background: Patients with type 1 diabetes mellitus (T1DM) and overweight have more risk to develop changes in blood pressure that increase cardiovascular morbidity and mortality. In this study, the relationship between blood pressure (BP) with the body mass index (BMI) and the average of the last three measurements of glycated hemoglobin (HbA1c) in patients with T1DM was determined.

Methods: A cross-sectional analytical study was conducted in children and adolescents with T1DM with over a year since diagnosis.

[Prevalence of metabolic syndrome and associated factors in children and adolescents with obesity].

Background: The prevalence of overweight and obesity in children in Mexico are high, as well as the complications associated with their presence. The objective of this work was to estimate the prevalence of metabolic syndrome in obese children and adolescents attending a Hospital Clinic and identify the associated factors.

Methods: Cross sectional design with 120 children and adolescents; of either sex, with exogenous obesity and BMI > 2.

INTRODUCTION OF PASTEURIZED/RAW COW'S MILK DURING THE SECOND SEMESTER OF LIFE AS A RISK FACTOR OF TYPE 1 DIABETES MELLITUS IN SCHOOL CHILDREN AND ADOLESCENTS.

Objective: to demonstrate that type 1 diabetes mellitus (T1DM) in school children and adolescents is associated with the early introduction of pasteurized/raw cow's milk in the second semester of life.

Material And Methods: this non-probabilistic study included 150 subjects (75 patients and 75 controls), divided according to sex and age (range, 6 to 16 years). T1DM was considered to be a dependent variable, and pasteurized/ raw cow's milk (P/RCM) was considered to be an independent variable in the study.

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

Stüve-Wiedemann syndrome (SWS) is an autosomal recessive bone dysplasia (OMIM #601559) characterized by bowing of long bones, camptodactyly, respiratory insufficiency, hyperthermic episodes, and neonatal death from hyperthermia or apnea. We describe two female siblings with SWS born from consanguineous Gypsy parents. For a further delineation of SWS, we report hypothyroidism and ectopic thyroid as part of its phenotypic spectrum.