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. Because of the wide range of Turner syndrome karyotypes, it is difficult to establish a relationship with the phenotype of the patients. We present the case of a female patient with Turner syndrome, insulin resistance, type 2 diabetes, and intellectual disability. The karyotype revealed the presence of mosaicism with a monosomy X cell line and a second line with a small marker chromosome. FISH of two different tissues was used to identify the marker chromosome with probes for X and Y centromeres. Both tissues presented mosaicism for a two X chromosome signal, differing in the percentage of the monosomy X cell percentage. Comparative genomic hybridization with the CytoScanTMHD assay was performed in genomic DNA from peripheral blood, allowing us to determine the size and breakage points of the small marker chromosome. The patient presents a phenotype that combines classic Turner syndrome features and unlikely ones as intellectual disability. The size, implicated genes, and degree of inactivation of the X chromosome influence the broad spectrum of phenotypes resulting from these chromosomes.

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. Thyroid function tests of 37 infants with DS and positive FHTD (cases) were compared with those of 183 newborns with DS without FHTD (control group). Data were analyzed using multivariate logistic regression analysis and adjusted odds ratios (aORs) with their respective 95 % confidence intervals (CI) were calculated. RESULTS: Nine newborns with DS in our sample had CH (4.1 %). In the multivariate analysis, FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95 % CI: 2.0-34.3), particularly in males (aOR = 9.0, 95 % CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95 % CI: 0.1-0.8). CONCLUSIONS: Newborns with DS and FHTD have an eight-fold higher risk for CH, particularly when the index case is male. FHTD detailed evaluation can be an easy and accessible strategy to identify those newborns with DS at higher risk for CH.

INTRODUCCIÓN: La historia familiar de enfermedad tiroidea (HFET) como factor de riesgo para hipotiroidismo congénito (HC), en síndrome de Down (SD) aún no ha sido explorada. OBJETIVO: Determinar si la HFET está asociada a mayor riesgo de HC en neonatos con SD. MÉTODO: Estudio de casos y controles en 220 neonatos con SD. Se compararon las pruebas de función tiroidea (PFT) de 37 con SD e HFET (casos), frente a las PFT de 183 recién nacidos con SD sin HFET (grupo de referencia). Se realizó análisis de regresión logística multivariante y se calculó la razón de momios (RM) y sus respectivos intervalos de confianza del 95 % (IC 95 %). RESULTADOS: Nueve casos HC (4.1 %). El HC mostró asociación con la HFET (RMa = 8.3, IC 95 %: 2.0-34.3), particularmente en los varones (RMa = 9.0, IC 95 %: 1.6-49.6). La ausencia de HFET tuvo una RM de protección para HC (RMa = 0.4, IC 95 %: 0.1-0.8). CONCLUSIONES: La HFET puede es una estrategia fácil y accesible para identificar pacientes con SD con mayor riesgo de HC.

Historia familiar de enfermedad tiroidea y riesgo de hipotiroidismo congénito en neonatos con síndrome de Down / Family history of thyroid disease and risk of congenital hypothyroidism in neonates with Down syndrome

Resumen Introducción: La historia familiar de enfermedad tiroidea (HFET) como factor de riesgo para hipotiroidismo congénito (HC), en síndrome de Down (SD) aún no ha sido explorada. Objetivo: Determinar si la HFET está asociada a mayor riesgo de HC en neonatos con SD. Método: Estudio de casos y controles en 220 neonatos con SD. Se compararon las pruebas de función tiroidea (PFT) de 37 con SD e HFET (casos), frente a las PFT de 183 recién nacidos con SD sin HFET (grupo de referencia). Se realizó análisis de regresión logística multivariante y se calculó la razón de momios (RM) y sus respectivos intervalos de confianza del 95 % (IC 95 %). Resultados: Nueve casos HC (4.1 %). El HC mostró asociación con la HFET (RMa = 8.3, IC 95 %: 2.0-34.3), particularmente en los varones (RMa = 9.0, IC 95 %: 1.6-49.6). La ausencia de HFET tuvo una RM de protección para HC (RMa = 0.4, IC 95 %: 0.1-0.8). Conclusiones: La HFET puede es una estrategia fácil y accesible para identificar pacientes con SD con mayor riesgo de HC.

Abstract Introduction: Family history of thyroid disease (FHTD) as risk factor for congenital hypothyroidism (CH) in patients with Down syndrome (DS) has not yet been explored. Objective: To determine whether FHTD is associated with an increased risk for CH in DS. Method: Case-control study in 220 neonates with DS. Thyroid function tests of 37 infants with DS and FHTD (cases) were compared with those of 183 DS newborns without FHTD (reference group). Data were analyzed using multivariate logistic regression analysis and adjusted odds ratios (aORs) with their respective 95 % confidence intervals (CI) were calculated. Results: Nine newborns with DS in our sample had CH (4.1 %). FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95 % CI: 2.0-34.3), particularly in males (aOR = 9.0, 95 % CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95 % CI: 0.1-0.8). Conclusions: FHTD detailed evaluation can be an easy and accessible strategy to identify those newborns with DS at higher risk for CH.

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. The dependent variables were systolic and diastolic BP, measured with a mercury sphygmomanometer. The independent variables were BMI and average of the last three measurements of HbA1. A linear regression with a 95% confidence interval was used. Results: Seventy-five patients with T1DM were studied. The median of disease duration was 3.5 years (min 1-max 14.8 years), BMI 19.5 ± 3.1 kg/cm2 and HbA1c 8.3 ± 2.4%. Sixty-six patients showed BP < percentile 90 and 9 BP ≥ percentile 90 (12%). Two models of linear regression were constructed, with systolic and diastolic BP as dependent variables. The possible predictor variables were suggested by theoretical context and statistical analysis. The predictive variable of high BP was zBMI (body mass index expressed in z-score) for systolic and diastolic BP. Also, the models suggested that for an increase of one unit of zBMI, corresponded a rise of 5.1 and 3.6 mmHg in systolic and diastolic BP, respectively. Conclusions: A positive correlation between systolic and diastolic BP with zBMI was observed.

Introducción: Los pacientes con diabetes mellitus tipo 1 (DM1) y sobrepeso tienen más riesgo de desarrollar cambios en la presión arterial (PA), y esto incrementa su morbilidad y mortalidad cardiovascular. En este estudio se determinó la relación entre la PA y el índice de masa corporal (IMC) y el promedio de las tres últimas mediciones de hemoglobina glucosilada (HbA1c) de pacientes con DM1. Métodos: Estudio transversal analítico en niños y adolescentes con DM1 con más de un año de evolución. Las variables dependientes fueron la PA sistólica y diastólica medidas con esfigmomanómetro y las variables independientes, IMC y promedio de las últimas tres mediciones de la HbA1c. Se utilizó regresión lineal múltiple con intervalo de confianza del 95%. Resultados: Se estudiaron 75 pacientes con DM1. La mediana del tiempo de evolución de la DM1 fue de 3.5 años (mínimo 1 año-máximo 14.8 años), el IMC 19.5 ± 3.1 kg/cm2 y la HbA1c 8.3 ± 2.4%. De los 75 pacientes, 66 presentaron PA < percentil 90 y 9 PA ≥ percentil 90 (12%). Se construyeron dos modelos de regresión lineal múltiple, con PA sistólica y diastólica como variables dependientes. Las posibles variables predictoras fueron sugeridas por el contexto teórico y el análisis estadístico. El IMC expresado en puntuación zeta (zIMC) fue predictor para PA sistólica/diastólica. Los modelos sugirieron que a cada incremento de unidad del zIMC corresponde un aumento de 5.1 y 3.6 mmHg de PA sistólica y diastólica, respectivamente. Conclusiones: Se observó una correlación positiva de la PA sistólica y la diastólica con el zIMC.

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. The statistical analyses included chi-squared test, odds ratio and 95% confidence intervals. RESULTS: the subjects were 51% male, age 11 ± 3.2 years, and 80% were breastfed, 18% were exclusively breastfed, and 13% received pasteurized/raw cow's milk. The children receiving P/RCM had a higher risk of T1DM [OR, 3.9 (1.2-12.8)]. The presence of T1DM was three times higher in those consuming P/RCM vs. those receiving follow-up formula [RM, 3.2 (1.03-10.07)]. CONCLUSIONS: introducing pasteurized/raw cow's milk in the second semester of life increased by four times the likelihood of developing T1DM in children and adolescents.

Objetivo: demostrar que la diabetes mellitus tipo 1 (DMT1) en escolares y adolescentes se asocia a una temprana introducción de leche entera pasteurizada/no pasteurizada en el segundo semestre de vida. Material y métodos: en este estudio no probabilístico de casos y controles se incluyeron 150 participantes (75 pacientes y 75 controles), divididos de acuerdo a la edad y el sexo de 6 a 16 años de edad. Se consideró DMT1 como una variable independiente. El análisis estadístico incluyó la prueba de Ji cuadrada y razón de momios con su intervalo de confianza del 95% Resultados: los participantes fueron 51% varones, con edades de 11 ± 3.2 años y el 80% alimentados al pecho materno, 18% en forma exclusiva, y el 13% recibieron leche entera pasteurizada/no pasteurizada. Los niños que recibieron leche entera pasteurizada/no pasteurizada tuvieron un riesgo mayor de DMT1 [OR, 3,9 (1,2-12,8)]. La presencia de DMT1 fue tres veces más elevada en quienes consumieron leche entera pasteurizada/no pasteurizada que en aquellos que recibieron fórmula de seguimiento [RM, 3,2 (1,03-10,07)]. Conclusión: la introducción de leche entera pasteurizada/ no pasteurizada en el segundo semestre de vida incrementó cuatro veces la probabilidad de desarrollo de DMT1 en escolares y adolescentes.

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 / Introducción de leche entera pasteurizada/no pasteurizada de vaca en el segundo semestre de la vida y riesgo de diabetes mellitus tipo 1 en escolares y adolescentes

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. The statistical analyses included chi-squared test, odds ratio and 95% confidence intervals. Results: the subjects were 51% male, age 11±3.2 years, and 80% were breastfed, 18% were exclusively breastfed, and 13% received pasteurized/raw cow’s milk. The children receiving P/RCM had a higher risk of T1DM [OR, 3.9 (1.2-12.8)]. The presence of T1DM was three times higher in those consuming P/RCM vs. those receiving follow-up formula [RM, 3.2 (1.03-10.07)]. Conclusions: introducing pasteurized/raw cow’s milk in the second semester of life increased by four times the likelihood of developing T1DM in children and adolescents (AU)

Objetivo: demostrar que la diabetes mellitus tipo 1 (DMT1) en escolares y adolescentes se asocia a una temprana introducción de leche entera pasteurizada/no pasteurizada en el segundo semestre de vida. Material y métodos: en este estudio no probabilístico de casos y controles se incluyeron 150 participantes (75 pacientes y 75 controles), divididos de acuerdo a la edad y el sexo de 6 a 16 años de edad. Se consideró DMT1 como una variable independiente. El análisis estadístico incluyó la prueba de Ji cuadrada y razón de momios con su intervalo de confianza del 95% Resultados: los participantes fueron 51% varones, con edades de 11±3.2 años y el 80% alimentados al pecho materno, 18% en forma exclusiva, y el 13% recibieron leche entera pasteurizada/no pasteurizada. Los niños que recibieron leche entera pasteurizada/no pasteurizada tuvieron un riesgo mayor de DMT1 [OR, 3,9 (1,2-12,8)]. La presencia de DMT1 fue tres veces más elevada en quienes consumieron leche entera pasteurizada/no pasteurizada que en aquellos que recibieron fórmula de seguimiento [RM, 3,2 (1,03-10,07)]. Conclusión: la introducción de leche entera pasteurizada/no pasteurizada en el segundo semestre de vida incrementó cuatro veces la probabilidad de desarrollo de DMT1 en escolares y adolescentes (AU)

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. Molecular study in the leukemia inhibitory factor receptor (LIFR) gene (OMIM *151 443) demonstrated the presence of a mutation. We observed that in one of our patients, oropharyngeal disruption in the swallowing process caused repetitive aspiration pneumonias, life-threatening events, and finally death. We emphasize that these features represent dysautonomic manifestations of SWS, and are probably related to pharyngoesophageal dyskinesia due to abnormal autonomic control of the anterior rami of cervical roots C1-C5.