Un caso de hipoplasia cerebelar humana asociada a consanguinidad múltiple / Human cerebellar hypoplasia related to multiple consanguinity: study of a case

Se reporta el estudio de tres pacientes con un alto grado de consanguinidad. Dos hermanos (hermano y hermana) y un primo hermano de 07, 12 y 03 años respectivamente, con un cuadro clínico de hipoplasia cerebelar severa caracterizada por la presencia de una anomalía en la conformación de las estructuras supratentorial e infratentorial. Presentaron un vermis rudimentario y un tronco cerebral de pequeño tamaño, encontrándose incrementada la cisterna prepontina y una inserción alta del tentorio. Además, presentaron disgenesia del cuerpo calloso, no apreci ndose otras alteraciones a nivel de las estructuras supratentoriales ni asimetría en las circunvoluciones cerebrales. Los pacientes presentaron incoordinación en los movimientos de los ojos y de la cabeza, estrabismo, ptosis bilateral y oftalmoplejia leve; así mismo, ligera macrocefalia, orejas prominentes, escoliosis, presencia de lesiones hiperpigmentadas en la piel y otras manchas hipopigmentadas, hipotonía troncal y axial, nistagmus, bajo peso al nacimiento (2,7 a 2,9 Kg), problemas para la deglución de alimentos sólidos, retardo en el crecimiento y bajo coeficiente intelectual con un vocabulario limitado compuesto por palabras de dos sílabas.

A case of high degree-consanguinity in three patients of 07, 12 and 03 years old (brother, sister and first cousin, respectively) is reported. These patients have cerebellar hypoplasia with anomalous supratentorial and infratentorial structures, rudimentary vermis and small brain trunk, prepontine cysterna shows increased size and high insertion of tentorius is present. Besides, all of the three patients showed callosum corpus dysgenesia, with no other anomalies in supratentorial structures or asymmetric brain sulcus. Patients presented poor eye coordination and head movements, strabismus, bilateral ptosis and mild ophthalmoplegic features. Also, they showed mild macrocephaly, prominent ears, troncal, and axial hipotony, nystagmus, low birth-weight (2,7 - 2,9 Kg), troubles on solid foods deglution, low growth rate and low IQ with limited vocabulary of two syllable words.

Análisis filogenático comparativo entre secuencias codificadoras (Cyt b y ATPasa 8) y secuencias no codificadoras (D-Loop) del ADN mitocondrial de primates y sus implicancias evolutivas en los homínidos / Phylogenetic analysis comparing coding (Cyt b and ATPase 8) and noncoding (D-Loop) sequences of primate mitochondrial dna. Evolutionary consequences in hominids

Las secuencias del ADN mitocondrial (ADNmt) de animales vertebrados han sido estudiadas desde hace 25 a¤os. Sólo ahora se cuenta con el genoma mitocondrial completo de muchas especies para hacer un análisis más detallado de cómo evolucionan sus secuencias y como esto influye en la construcción de  árboles filogenérticos con la aplicación de los diferentes modelos matemáticos y programas bioinformáticos. En definitiva, aún existe un recurrente debate evolutivo acerca de cu les secuencias mitocondriales son las más adecuadas de utilizar para explicar mejor los procesos que operan dentro de las especies animales. Por lo tanto, el presente trabajo se propone analizar todas las posibles alternativas de solución utilizando tanto secuencias mitocondriales nucleotídicas como aminoacídicas.

Mitochondrial DNA (mtDNA) sequences of vertebrates have been studied for 25 years. Now, we have complete sequences of mitochondrial genomes of many species and this allows a more detailed analysis on the evolution of these sequences and how this influences the construction of phylogenetic trees with the application of different mathematical models and bioinformatics programs. Definitely, an old evolutionary discussion has come back about which mitochondrial sequences are the most appropriate to use in order to explain the processes operating within animal species. Therefore, the aim of this paper is to analyze all these possible alternatives using mitochondrial nucleotide and amino acid sequences.

[Interest in variations in soluble ICAM-1 plasma levels. From physiology to clinical applications]. / Intérêt des variations plasmatiques d'ICAM-1 soluble. De la physiologie à l'application clinique.

Intracellular adhesion molecule 1 (ICAM-1) is an adhesion-related molecule belonging to the immunoglobulin superfamily. This molecule is found on the cell membrane of endothelial cells. When activated ICAM-1 allows stable leukocyte adhesion to the endothelial surface. ICAM-1 is found not only in the membrane form but also circulating in serum. ICAM-1 (extracellular part of ICAM-1). This enables ICAM-1s to bind leukocyte integrin receptors such as LFA-1 (CDI1a/CD18) and Mac-1 (CDI1b/CD18) and therefore provide adaptive changes in the adhesion process between circulating cells and the endothelium.

[Dyspneic bronchopathy and asthma: hospital admission between 1979 and 1994]. / Broncopatia dispneizzante e asma: l'andamento dei ricoveri dal 1979 al 1994.

4,618 children, hospital admitted between 1979 and 1994 for wheezy bronchitis or asthma, have been investigated. the patients were distributed in two groups, according to mean age of 19 months or 8 year. An increasing incidence of asthma, an earlier onset or respiratory symptoms, more frequent hospitalisation in children aging less than 2 years, in recent years were observed. In elder children however, less frequent hospitalisation occurred.

[Presentation of a case of probably primary intestinal tuberculosis with a favorable outcome]. / Presentazione di un caso di tubercolosi intestinale verosimilmente primaria ad esito favorevole.

The authors report a case of intestinal tuberculosis observed in a 4 year old child. The more important aspects of the case are its rarity (today the intestinal tuberculosis is uncommon), its differential diagnosis because of prevalence of hematuria over other symptoms, and the favourable results obtained with specific chemotherapy alone.

[Persistent atelectasis secondary to an endobronchial tubercular granuloma in primary tuberculosis: presentation of a case with a favorable outcome]. / Atelettasia persistente secondaria a granuloma tubercolare endobronchiale in corso di tubercolosi primaria: Presentazione di un caso ad esito favorevole.

The Authors report a case of tuberculous endobronchial granuloma observed in a two years old child affected by primary tuberculosis. The more important aspects of the case are its rarity, the pathogenesis, its differential diagnosis, and the determining importance of the surgical operation for diagnosis and therapy.

[Favorable outcome of probably congenital chylothorax in a 2-month-old infant treated with continuous pleural drainage]. / Evoluzione favorevole di chilotorace verosimilmente congenito in un lattante di 2 mesi curato con drenaggio pleurico continuo.

The authors report a case of a probably congenital chylothorax observed in a 2 months old infant. The more important aspects of the case are its rarity, the delay of appearance of the clinical symptoms, theirs mild entity, and the favourable result obtained with continuous pleural drainage.