Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function. Cytogenetic analysis of the newborn showed double aneuploidy 48,XXY,+21. The maternal karyotype was 46,XX,inv(9)(p11q13) and the paternal was 46,XY. Characteristics associated with Down syndrome are observed in newborns; on the other hand, children under 10 months of age and neonates may show little or no signs of the Klinefelter syndrome. According to this study, there seem to be differences between the frequency of congenital heart disease among patients with Down-Klinefelter and Down syndrome. At about 11 months of age, the child died after undergoing heart surgeries. The early cytogenetic study is important for better diagnosis and management of the disease.

CASE-REPORT Low-level trisomy 14 mosaicism in a male newborn with ectrodactyly.

Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35.5 cm. The baby remained hospitalized for 19 days in the neonatal intensive care unit due to respiratory distress syndrome and congenital malformations. Physical examination revealed a toned and normal activity, followed by phenotypic changes such as a broader forehead, formation of a cleft palate, hypertelorism, low-set ears, bilateral cryptorchidism, absence of the second toe of the left foot (ectrodactyly), and fusion of third and fourth toes in the right foot (bilateral syndactyly). Cytogenetic analysis was performed on peripheral blood cultures after hospitalization in the neonatal intensive care unit. Analysis of 200 G-banded metaphases showed that 192 (96%) had normal karyotype 46,XY and only 8 (4%) presented trisomy 47,XY,+14. It was not possible to perform cytogenetic analysis on the patient's parents. Our patient represents the first case of trisomy 14 disorder to present ectrodactyly.

[Is dental plaque a normal Helicobacter pylori reservoir?]. / Es la placa dentaria reservorio habitual de Helicobacter pylori?

The mechanisms of transmission and reservoir of Helicobacter pylori is still unclear; even it has been suggested that dental plaque could be the bacterial reservoir and one important factor in the reinfection. The aim of the study was to evaluate the prevalence of Helicobacter pylori in dental plaque in 20 patients with non ulcer dyspepsia (12 females, 7 males; mean age 40.5 years) and antral infection; and to establish the presence of bacteria in dental plaque and gastric mucosa after eradication. Gastric colonization in all of them was confirmed by five samples (three of antrum and two of body) with Giemsa conventional technique, clotest and culture. When clotest was positive in gastric mucosa, we performed the scrape of dental plaque and sending the material for culture. All patients were treated with a scheme of seven days with one protom pump inhibitor and two antibiotics. After four weeks all the patients were controlled with endoscopy and culture of dental plaque to confirm eradication. Dental plaque culture was positive in 1/20 patients (5%), and this results was similar to developed countries, using as detection method culture or polymerase chain reaction (PCR).

Es la placa dentaria reservorio habitual de Helicobacter pylory? / Is dental plaque reservoir of Helicobacter pylori?

Si bien la forma de transmisión y el reservorio del Helicobacter pylori no son claros, se ha sugerido que la placa dentaria puede ser reservorio del germen y poseer inplicancias en la reinfección, una vez erradicada la bacteria. El objetivo de este trabajo fue evaluar la prevalencia del Helicobacter pylori en placa dentaria en 20 pacientes portadores de dispepsia no ulcerosa (12 mujeres y 7 varones con media etaria de 40.5 años)e infección antral por Helicobacter pylori y establecer la presencia en placa dentaria y mucosa gástrica luego de la erradicación. En todas ellas se confirmó la colonización gástrica mediante 5 biopsias (3 de antro y 2 de cuerpo) realizándose histología convencional com Giemsa clotest y cultivo en medio de anaerobiosis com generador de microaerofilia, usando como medio de transporte Stuard-carbón activado. Confirmada la positividad del clotest en mucosa gástrica, se procedió al raspado de placa dentaria en el servicio de odontología, enviándose el material en las mismas condiciones descriptas para el cultivo de la bacteria. Todos los pacientes fueron tratados com un esquema de erradicación a 7 días que incluía un IBP en dos tomas diarias; amoxicilina 1 gr. X 2 y claritromicina 500 mg. X 2. Cuatro semanas después de finalizado el esquema se realizó nueva endoscopía y cultivo de placa dentaria para confirmar erradicación. El cultivo de placa dentaria fue positivo en 1 de 20 es decir el 5 por ciento, confirmándose su erradicación com la terapeútica en el control a las 4 semanas. Nuestros resultados en cuanto a prevalencia de Hp en placa dentaria son similares a los obtenidos en países desarrollados, utilizando como método de detección de la bacteria el cultivo de PCR.