Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.

Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of motile and non-motile cilia ciliogenesis and ciliary trafficking, as well as genes previously associated with this heart malformation. Deleterious missense and splicing variants of genes DNAH9, DNAH11, and ODAD4 of cilia outer dynein arm and central apparatus, HYDIN, were found in our TGA patients. Remarkable, there is a clustering of deleterious genetic variants in cilia genes, suggesting it could be an oligogenic disease. Our data evidence the genetic diversity and etiological complexity of TGA and point out that population allele determination and genetic aggregation studies are required to improve genetic counseling.

Unsuspected Lung Pathology in Autopsies of Children with Cancer.

BACKGROUND: Although pulmonary involvement is common in patients with cancer, its frequency and nature is seldom reported in the medical literature. OBJECTIVE: To determine the frequency and type of lung pathological conditions revealed by autopsy in children with cancer. METHODS: All reports from autopsies performed in children with cancer from 1989 to 2012 in a pediatric hospital were reviewed. RESULTS: In the analyzed period, 118 autopsies (10.2% of all autopsies) corresponded to children who died with cancer; 76 had complete information and were included in the analysis. Children were seen in the Hematology (41 cases) or the Oncology (35 cases) services. Their median age at decease was 7 years (range, 15 days to 16.1 years) and 46.1% were females. Main diagnoses were acute lymphoblastic (31 patients) or myeloblastic (10 patients) leukemias and tumors of the central nervous system (12 patients). A pathological respiratory condition was diagnosed antemortem in 31 (40.8%) patients, and at autopsy in 62 (81.6%) cases. Omitted diagnoses occurred in 58 (76.3%) children, being pneumonia (24 cases) and pulmonary hemorrhage (23 cases) the most frequent omissions. Nine patients had clinically unsuspected tumor infiltration or metastases. CONCLUSIONS: In these children with cancer, more than 80% of autopsies revealed some lung pathology, mainly of infectious or hemorrhagic nature. Thus, pulmonary involvement should be investigated in all children with cancer in a timely and intentional manner.

[Epidemiological trends 1992-2007 in a neonatal intensive care unit]. / Cambios epidemiológicos de 1992 a 2007 en una unidad de cuidados intensivos neonatales.

INTRODUCTION: progressive advances in neonatal care are expected to change the epidemiological profile of patients and conditions seen in neonatal intensive care units (NICU). Thus, the objective of this study was to identify such changes in a NICU in Mexico City. METHODS: retrospectively, we analyzed age, gender, weight at admission, hospital stay,diagnoses at discharge and cause of death in 5,192 patients admitted from 1992-2007. RESULTS: in the study period,patients were admitted at a progressively older age (median of 3 days old in 1992 to 9 in 2007; rS = 0.87) and lower weight (2,800-2,343 g; rS = ­0.56), while length of hospital stay was stable (approximately, 9 days). Over 90% patients had cardiological, digestive and/or pulmonary diseases, and most patients (71.4%) had conditions for which a surgical approach is the usual treatment. Cardiological and neurologic problems increased (rS = 0.86 and 0.85, respectively),while pulmonary diseases decreased (rS = ­0.79). Mortality and autopsy rate diminished from 26 to 15% (rS = ­0.80),and from 32.5 to 10.7% (rS = ­0.53), respectively. Conditions more frequently associated with death were urologic/nephrologic and infectious diseases. CONCLUSION: epidemiological patterns in our NICU are clearly changing, and thus searching for similar time trends in other NICU is warranted.

Cambios en la hemodinamia cerebral y sistémica en recién nacidos bajo sedación y analgesia con fentanilo / Changes in cerebral and systemic hemodynamics in newborns under sedation and analgesi with fentanyl

Introducción. Objetivo: determinar las variaciones del flujo sanguíneo cerebral con la aplicación de fentanilo en neonatos críticamente enfermos. Material y métodos. Diseño: estudio longitudinal, prospectivo, descriptivo y observacional. Si Neonatología del Hospital de Pediatría, Centro Médico Nacional. Se incluyeron 18 pacientes tratados con fentanilo en bolo (5 µg / kg) e infusión contimua (3 µg/kg/hora). Se hicieron mediciones basales, a la hora y a las 24 horas de la aplicación del fármaco de la tensión arterial (TA) sistólica, diastólica y media y por ultrasonido (Modo M y B) se midieron las fracciones de eyección y acortamiento del ventrículo izquierdo. Por medio de Doppler pulsado se midieron la velocidad de flujo sanguíneo y el índice de pulsatilidad de la arteria cerebral anterior en los mismos momentos establecidos. Resultados. Se encontraron diferencias significativas en: la TA diastólica, la telediástole de la arteria cerebral y la fracción de acortamiento entre las mediciones basales y a las 24 horas (P< 0.05) para cada una de ellas. No hubo efecto adverso con el tratamiento en ninguna de las mediciones hemodinámicas, sistémicas o cerebrales. Conclusiones. Las diferencias encontradas entre los valores basales y los subsecuentes probablemente se atribuyan a la administración de fentanilo

Síndrome de Fanconi-Bickel / Fanconi-Bickel syndrome

Se presenta el caso de un niño de un año tres meses de edad con síndrome de Fanconi-Bickel, caracterizado por las manifestaciones del síndrome de Fanconi (glucosuria, aminoaciduria y fosfaturia) y acúmulo de glucógeno en el hígado semejante a lo que se observa en la glucogenosis tipo Ia. Debido a la presencia de glucogenosis hepática el paciente también presentó hipoglucemia, cetonuria, hipercolesterolemia e hipertrigliceridemia. La glucogenosis observada en los pacientes con síndrome de Fanconi-Bickel, no depende de defecto de la actividad de la glucosa-6-fosfatasa, sino al parecer, de un defecto del transportador que moviliza la glucosa y la galactosa en el hígado y en la membrana basolateral del túbulo proximal del nefrón