Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report.

Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete loss of one of the X chromosomes. We describe an 11-year-old female who was recently diagnosed with TS. Karyotype revealed a deletion of the distal portion of chromosome X. Chromosome single nucleotide polymorphism (SNP) array revealed microdeletion of Xp22.33p22.12. Patient reached her menarche at age 11 years. Both the patient and her mother have short stature. Her mother, however, has a normal karyotype. This is one of few case reports of TS with microdeletion of Xp22.33 reported in the literature, with normal ovarian function and possible future transmission of the deletion to the next generations.

Childhood Attention-Deficit/Hyperactivity Disorder, Sex, and Obesity: A Longitudinal Population-Based Study.

OBJECTIVE: To assess obesity rates during childhood and young adulthood in patients with attention-deficit/hyperactivity disorder (ADHD) and age- and sex-matched controls derived from a population-based birth cohort because cross-sectional studies suggest an association between ADHD and obesity. PATIENTS AND METHODS: Study subjects included patients with childhood ADHD (n=336) and age- and sex-matched non-ADHD controls (n=665) from a 1976 to 1982 birth cohort (N=5718). Height, weight, and stimulant treatment measurements were abstracted retrospectively from medical records documenting care provided from January 1, 1976, through August 31, 2010. The association between ADHD and obesity in patients with ADHD relative to controls was estimated using Cox models. RESULTS: Patients with attention-deficit/hyperactivity disorder were 1.23 (95% CI, 1.00-1.50; P<.05) times more likely to be obese during the follow-up period than were non-ADHD controls. This association was not statistically significant in either sex (female participants: hazard ratio [HR], 1.49; 95% CI, 0.98-2.27; P=.06; male participants HR, 1.17, 95% CI, 0.92-1.48; P=.20). Patients with ADHD who were not obese as of the date ADHD research diagnostic criteria were met were 1.56 (95% CI, 1.14-2.13; P<.01) times more likely to be obese during the subsequent follow-up than were controls. This association was statistically significant in female study subjects (HR, 2.02; 95% CI, 1.13-3.60; P=.02), but not in male participants (HR, 1.41; 95% CI, 0.97-2.05; P=.07). A higher proportion of patients with ADHD were obese after the age of 20 years compared with non-ADHD controls (34.4% vs 25.1%; P=.01); this difference was observed only in female patients (41.6% vs 19.2%). There were no differences in obesity rates between stimulant-treated and nontreated patients with ADHD. CONCLUSION: Childhood ADHD is associated with obesity during childhood and young adulthood in females. Treatment with stimulant medications is not associated with the development of obesity up to young adulthood.

Effect of vitamin D3 supplementation on serum 25(OH)D, lipids and markers of insulin resistance in obese adolescents: a prospective, randomized, placebo-controlled pilot trial.

BACKGROUND/AIMS: To determine the effect of vitamin D3 supplementation on 25-hydroxyvitamin D [25(OH)D], lipid profile and markers of insulin resistance in obese adolescents. METHODS: In this double-blind, randomized, placebo-controlled trial, 58 obese adolescents (n = 58; 12-18 years of age) received either vitamin D3 (2,000 IU/day) or placebo for 12 weeks. Total 25(OH)D, fasting plasma glucose, insulin and lipid profile were measured at baseline and following supplementation. RESULTS: The trial was completed by 44/58 enrolled participants. At the end of the 12 weeks, total serum 25(OH)D concentrations increased to a modest degree (median 6 ng/ml) in the vitamin D-supplemented group (p < 0.001). Supplementation showed no detectable changes in fasting plasma glucose, insulin, homeostatic model of assessment index (HOMA-IR), lipids and highly sensitive C-reactive protein. CONCLUSIONS: 12 weeks of vitamin D3 supplementation in obese adolescents with 2,000 IU once daily resulted in a modest increase in 25(OH)D concentration in obese adolescents, but did not affect the lipid profile and markers of insulin resistance and inflammation. Further studies with higher doses of vitamin D3 and/or longer duration of supplementation are needed to understand if vitamin D3 supplementation can impact lipid profiles and markers of insulin resistance and inflammation in obese children.

Response to vitamin D3 supplementation in obese and non-obese Caucasian adolescents.

BACKGROUND/AIMS: Vitamin D deficiency is highly prevalent in obese children, and obese children tend to respond poorly to vitamin D supplementation. The objective of the study was to compare the response to vitamin D(3) supplementation (2,000 IU once daily for 12 weeks) between obese and non-obese Caucasian adolescents. METHODS: The study design was open label non-randomized. It was carried out at a single center. Eighteen obese adolescents (aged 12-18 years) and the same number of age-, gender- and season-matched non-obese adolescents received vitamin D(3) (2,000 IU/day) orally for 12 weeks. Total serum 25-hydroxyvitamin D [25(OH)D], parathyroid hormone, calcium and phosphorus were measured at baseline and at the end of the 12-week period. RESULTS: The mean baseline 25(OH)D level was higher in the non-obese compared to the obese subjects (mean 28.9 vs. 25.2 ng/ml; p = 0.029). The increment in 25(OH)D levels following vitamin D supplementation was significantly lower in the obese adolescents (mean change 5.8 vs. 9.8 ng/ml; p = 0.019). CONCLUSIONS: Higher doses of vitamin D are required to treat vitamin D deficiency in obese adolescents compared to their non-obese peers.

Successful treatment of type 1 diabetes and seizures with combined ketogenic diet and insulin.

Diabetic ketoacidosis (DKA) is a life-threatening condition and a major cause of morbidity and mortality in children with type 1 diabetes mellitus. The deficiency of insulin leads to metabolic decompensation, causing hyperglycemia and ketosis that resolves with the administration of insulin and fluids. However, an induced state of ketosis is the basis for the success of the ketogenic diet (KD), which is an effective therapy for children with intractable epilepsy. We report the case of a 2-year-old girl who presented to the emergency department with 1-week history of decreased activity, polyuria, and decreased oral intake. Her past medical history was remarkable for epilepsy, for which she was started on the KD with a significant improvement. Her laboratory evaluation was compatible with DKA, and fluids and insulin were given until correction. Because of concerns regarding recurrence of her seizures, the KD was resumed along with the simultaneous use of insulin glargine and insulin aspart. Urine ketones were kept in the moderate range to keep the effect of ketosis on seizure control. Under this combined therapy, the patient remained seizure-free with no new episodes of DKA.

Evaluación de la sensibilidad del cultivo de semen en el diagnóstico de prostatitis bacteriana crónica / Assessment of the sensitivity of semen culture in the diagnosis of chronic bacterial prostatitis

Objetivo: Evaluar la sensibilidad del cultivo de semen en el diagnóstico de pacientes con prostatis bacteriana crónica (PBC). Materiales y métodos: Es un estudio de serie de casos prospectivos y analíticos realizado en varones con clínica sugerente de PBC y sin tratamiento previo. Se evaluaron variables clínicas, demográficas y de laboratorio. A todos los pacientes se les realizó la prueba de Meares y Stamey y la prueba a la que denominamos. Alterna (espermocultivo y 3 urocultivo). Se evaluó la sensibilidad del cultivo de semen. Resultados: De 130 pacientes, solo en 69 se realizaron ambas pruebas. La edad promedio fue de 37.07±11.16 años. El tiempo promedio de enfermedad antes de acudir a consulta médica fue de 12.5 meses. El síntoma más frecuente fue el dolor testicular bilateral presente en 32 (46.59 por ciento) pacientes. El examen digito rectal de la próstata fue normal en 64 (92.75 por ciento) de los pacientes. La prueba alterna fue positiva en 7 (10.14 por ciento) casos siendo Escherichia coli el germen más frecuentemente aislado en el cultivo de semen. La prueba de Meares y Stamey fue positiva en todos los pacientes. Staphylococcus aureus fue el germen más frecuentemente encontrado en el cultivo de secreción prostática. La sensibilidad del cultivo de semen para el diagnóstico de PBC fue de 10.14 por ciento. Conclusión: En nuestro estudio el cultivo de semen tiene una baja sensibilidad en el diagnóstico de PBC y su empleo nos llevaría a sub diagnosticar esta condición.

Eficacia del examen digital rectal de la próstata y antígeno prostático específico en la detección del cáncer de próstata / Efficacy of serum prostate-specific antigen and digital rectal examination on prostate cancer detection

Objetivo: Evaluar la eficacia del Examen Digital Rectal (EDR) y del Antígeno Prostático Específico (APE) en la detección del cáncer de prostáta. Material y métodos: Se realizó un estudio retrospectivo en el Hospital Nacional Cayetano Heredia (HNCH) en el período 1977 y 1999. Se revisaron las historias clínicas de pacientes que acudieron al Servicio de Urología con sintomatología prostática y que cumplieron con los criterios de inclusión. La eficacia de las pruebas diagnósticas se evaluó con la sensibilidad y especificidad, valor predictivo positivo (VPP) y valor predictivo negativo (VPN), además evaluamos la asociación de cada prueba con el grado de diferenciación histológica e infiltración perineural. Resultados: De 112 pacientes solo 80 fueron evaluables. En 46(57.5 por ciento) pacientes se confirmó cáncer prostático por estudio histológico de los cuales 38(82.7 por ciento) presentaron EDR anormal y APE>4ng/ml. De 62 pacientes con EDR anormal 40(64.5 por ciento) presentaron cáncer. El APE >10 ng/ml se detectó en 59 pacientes y 42(71.27 por ciento) de ellos tuvieron cáncer. Para un EDR anormal y APE >4ng/ml, la sensibilidad fue de 0.95, la especificidad de 0.65, el VPP de 0.76 y el VPN de 0.73. Ambas pruebas positivas se asociaron a pobre grado de diferenciación histológica. Conclusión: En la población estudiada el EDR anormal y el APE > 4 ng/ml son eficaces en la detección de cáncer de próstata.

Influencia del tratamiento quirúrgico de la próstata sobre la función renal en pacientes con insuficiencia renal crónica secundaria a hiperplasia prostática benigna / Influence of prostatectomy over renal function in patients with chronic renal failure secundary to benign prostate hyperplasia

Objetivo: Evaluar la influencia del tratamiento quirúrgico sobre la función renal en pacientes con Insuficiencia Renal Crónica (IRC) causada por Hiperplasia Prostática Benigna (HPB). Material y métodos: Es un estudio descriptivo, retrospectivo y analítico de series de casos; cuya variable resultado principal fue el delta de creatinina (creatinina post cirugía - creatinina pre-cirugía), los deltas de creatinina negativos se categorizaron como mejoría de la función renal y los deltas de creatinina positivos como deterioro de la función renal. Resultados: De 40 casos, 24 cumplían con los criterios de inclusión. La edad promedio fue de 67.2 ñ 6.8 años. El síntoma más frecuente fue el chorro urinario delgado presentándose en 20 (83.3 por ciento) pacientes. Trece (54.17 por ciento) pacientes tuvieron una próstata mediana, quienes con los pacientes de próstata grande refirieron con mayor frecuencia el síntoma de polaquiuria (p=0.03). El tratamiento quirúrgico de pacientes con IRC por HPB produjo una mejoría de la función renal en el 83 por ciento de los casos. Solo 4 (16.67 por ciento) pacientes tuvieron delta de creatinina positivo con disminución de la función renal post-cirugía. Se encontró una correlación directa entre la edad y el delta de creatinina (r=0.55) (p=0.004) traduciendo una asociación del deterioro de la función renal post-cirugía con la edad. Conclusiones: El tratamiento quirúrgico de pacientes con IRC por HPB produjo una mejoría de la función renal en la mayoría de los pacientes evaluados en este estudio. No se identificó factores de riesgo relacionados con un deterioro o mejoría de la función renal post-cirugía.