ABSTRACT
A variety of changes in placental villi are known to occur in Pregnancy Induced Hypertension. In this study an attempt is made to study 49 placentae from PIH and its correlation to perinatal outcome. Quantification of villous lesions was carried out. The striking villious changes were cytotrophoblastic proliferation, paucity of vasculosyncytial membrane, trophoblastic basement membrane thickening and fibrinoid necrosis of villi. The changes were directly proportional to the severity of disease and perinatal outcome was worse with advancing grades of PIH.
Subject(s)
Hypertension, Pregnancy-Induced/pathology , Hypertension, Pregnancy-Induced/physiopathology , Placenta/pathology , Apgar Score , Chorionic Villi/pathology , Eclampsia/pathology , Female , Fetal Death , Humans , Infant, Low Birth Weight , Infant, Newborn , Pregnancy , Pregnancy Outcome , Severity of Illness Index , Trophoblasts/pathologyABSTRACT
Kasabach-Meritt syndrome is a combination of thromobocytopenia, hemolytic anemia, and acute or chronic consumptive coagulopathy in association with rapidly enlarging hemangioma. A male infant of 5 days was admitted in paediatric ward with this syndrome. The baby had ecchymotic patches over face and extremities and bleeding through umbilical stump. The child expired due to severe thrombocytopenia with consumptive coagulopathy leading to precipituous hemorrhage superimposed by septicemia. An autopsy was performed which confirmed retroperitoneal lesion as kaposiform hemangioendothelioma.
Subject(s)
Anemia, Hemolytic/pathology , Disseminated Intravascular Coagulation/pathology , Hemangioendothelioma/pathology , Retroperitoneal Neoplasms/pathology , Thrombocytopenia/pathology , Fatal Outcome , Humans , Infant, Newborn , Male , SyndromeABSTRACT
BACKGROUND: Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media, called medial necrosis. Families identified with dominant inheritance of thoracic aortic aneurysms and dissections (TAA/dissections) indicate that single gene mutations can cause medial necrosis in the absence of an associated syndrome. METHODS AND RESULTS: Fifteen families were identified with multiple members with TAAs/dissections. DNA from affected members from 2 of the families was used for a genome-wide search for the location of the defective gene by use of random polymorphic markers. The data were analyzed by the affected-pedigree-member method of linkage analysis. This analysis revealed 3 chromosomal loci with multiple markers demonstrating evidence of linkage to the phenotype. Linkage analysis using further markers in these regions and DNA from 15 families confirmed linkage of some of the families to 5q13-14. Genetic heterogeneity for the condition was confirmed by a heterogeneity test. Data from 9 families with the highest conditional probability of being linked to 5q were used to calculate the pairwise and multipoint logarithm of the odds (LOD) scores, with a maximum LOD of 4.74, with no recombination being obtained for the marker D5S2029. In 6 families, the phenotype was not linked to the 5q locus. CONCLUSIONS: A major locus for familial TAAs and dissections maps to 5q13-14, with the majority (9 of 15) of the families identified demonstrating evidence of linkage to this locus. The condition is genetically heterogeneous, with 6 families not demonstrating evidence of linkage to any loci previously associated with aneurysm formation.
Subject(s)
Aortic Aneurysm, Thoracic/genetics , Aortic Dissection/genetics , Extracellular Matrix Proteins , Proteoglycans , Aortic Dissection/pathology , Aortic Aneurysm, Thoracic/pathology , Chondroitin Sulfate Proteoglycans/genetics , Chromosome Mapping , Chromosomes, Human, Pair 5/genetics , Family Health , Female , Genetic Heterogeneity , Genome, Human , Genotype , Haplotypes , Humans , Lectins, C-Type , Lod Score , Male , Microsatellite Repeats , Pedigree , Polymorphism, Single Nucleotide , Proteins/genetics , Sequence Analysis, DNA , Thrombospondins/genetics , VersicansABSTRACT
Reconstructing a physical map of a chromosome from a genomic library presents a central computational problem in genetics. Physical map reconstruction in the presence of errors is a problem of high computational complexity that provides the motivation for parallel computing. Parallelization strategies for a maximum-likelihood estimation-based approach to physical map reconstruction are presented. The estimation procedure entails a gradient descent search for determining the optimal spacings between probes for a given probe ordering. The optimal probe ordering is determined using a stochastic optimization algorithm such as simulated annealing or microcanonical annealing. A two-level parallelization strategy is proposed wherein the gradient descent search is parallelized at the lower level and the stochastic optimization algorithm is simultaneously parallelized at the higher level. Implementation and experimental results on a distributed-memory multiprocessor cluster running the parallel virtual machine (PVM) environment are presented using simulated and real hybridization data.
Subject(s)
Physical Chromosome Mapping/methods , Algorithms , Computer Simulation , Genome, Fungal , Likelihood Functions , Models, Statistical , Models, Theoretical , Neurospora crassa/genetics , Nucleic Acid Hybridization , Software , Time FactorsABSTRACT
The variance component method has become popular for linkage analysis due to its computational simplicity and generally high power. In this paper we model phenotypic variability of an individual as a mixed effects model in which both the major gene as well as the polygene effects interact with age. We applied the proposed model to the simulated data of Genetic Analysis Workshop 12. We considered the quantitative trait, Q4, in the outbred population. Two major genes influence this trait, each interacting with age independently. Consequently, trait variability is a function of age and also there is interaction of major gene effects with age. By using our model we were able to detect interaction between the major gene effects and age for this trait.
