Heart-hand syndrome

Summary We have studied members of three generations of the same family affected by brachydactyly, which is accompanied by intraventricular conduction defects in three cases (proband's father and two of his sons) and sick sinus syndrome in the proband.The brachydactyly described affects mainly the middle phalanges of both hands; the index and fifth fingers are more severely affected than the other fingers. It also includes a rare variant with an ossicle on the proximal phalanx of both index fingers, which reduces them in length and causes them to deviate towards the ulnar border of the hand. The feet also tend to be affected, but to a lesser degree. No other pathological findings were recorded.It is therefore suggested that the anomalies detected in this family are transmitted by an autosomal dominant mode of inheritance, thus forming a syndrome.     

Cytogenetic and electrophoretic evidence for a polyploid origin of the basic chromosome number x = 14 in the genusAsphodelus (Liliaceae)

Cytogenetic and electrophoretic analyses on 2n = 28 strains ofAsphodelus cerasiferus strongly suggest that the basic number x = 14 of the genusAsphodelus is of secondary polyploid origin from x = 7.     

Development of cell surface saccharides on embryonic pancreatic cells

Using a battery of seven lectin-ferritin conjugates as probes for cell surface glycoconjugates, we have studied the pattern of plasmalemmal differentiation of cells in the embryonic rat pancreas from day 15 in utero to the early postpartum stage. Our results indicate that differentiation of plasmalemmal glycoconjugates on acinar, endocrine, and centroacinar cells is temporally correlated with development and is unique for each cell type, as indicated by lectin-ferritin binding. Specifically, (a) expression of adult cell surface saccharide phenotype can be detected on presumptive acinar cells as early as 15 d in utero, as indicated by soybean agglutinin binding, and precedes development of intracellular organelles characteristic of mature acinar cells; (b) maturation of the plasmalemma of acinar cells is reached after intracellular cytodifferentiation is completed, as indicated by appearance of Con A and fucoselectin binding sites only at day 19 of development; conversely, maturation of the endocrine cell plasmalemma is accompanied by "loss" (masking) of ricinus communis II agglutinin receptors; and (c) binding sites for fucose lectins and for soybean agglutinin are absent on endocrine and centroacinar cells at all stages examined. We conclude that acinar, centroacinar, and endocrine cells develop from a common progenitor cell(s) whose plasmalemmal carbohydrate composition resembles most closely that of the adult centroacinar cell. Finally, appearance of acinar lumina beginning at approximately 17 d in utero is accompanied by differenetiation of apical and basolateral plasmalemmal domains of epithelial cells, as indicated by enhanced binding of several lectin-ferritin conjugates to the apical plasmalemmal, a pattern that persists from this stage through adult life.     

Further studies on polyploid amphibians

The manner in which centromere regions of mitotic chromosomes are distributed with respect to the age of their DNA was studied. Cells of the Indian deer, Muntiacus muntjak, were grown in the presence of bromodeoxyuridine (BrdU) for two generations and stained with the fluorescent dye Hoechst 33258. Chromatids containing granddaughter DNA appear dim when compared with those containing grandparental DNA. The frequencies of the various anaphase patterns of bright and dim centromere regions were binomially distributed, indicating random distribution of chromatids with respect to the age of their DNA templates.     

Resultados comparativos de la reaccion intradermica a la tuberculina - histoplasmina- coccidioidina en Tuberculosos

Mycopathologia - Se estudiaron los resultados comparativos de las reacciones intradérmicas a la Tuberculina, Histoplasmina y Coccidioidina, practicadas simultáneamente a 644 enfermos...     

Genetic association between bovine NOD2 polymorphisms and infection by Mycobacterium avium subsp. paratuberculosis in Holstein‐Friesian cattle

Nucleotide‐Binding Oligomerization Domain 2 (NOD2) has been reported to be a candidate gene for Mycobacterium avium subsp. paratuberculosis (MAP) infection in a Bos taurus × Bos indicus mixed breed based on a genetic association with the c.2197T>C single nucleotide polymorphism (SNP). Nevertheless, this SNP has also been reported to be monomorphic in the B. taurus species. In the present work, 18 SNPs spanning the bovine NOD2 gene have been analysed in a genetic association study of two independent populations of Holstein‐Friesian cattle. We found that the C allele of SNP c.*1908C>T, located in the 3′‐UTR region of the gene, is significantly more frequent in infected animals than in healthy ones, which supports the idea that the bovine NOD2 gene plays a role in susceptibility to MAP infection. However, in silico analyses of the NOD2 nucleotide sequence did not yield definitive data about a possible direct effect of SNP c.*1908C>T on susceptibility to infection and led us to consider its linkage disequilibrium with the causative variant. A more exhaustive genetic association study including all putative, functional SNPs from this gene and subsequent functional analyses needs to be conducted to achieve a more complete understanding of how different variants of NOD2 may affect susceptibility to MAP infection in cattle.