Monica Hrynchak

A 41-year old resident of a nursing home presented with bloody diarrhea, and subsequently developed hemolytic-uremic syndrome. E. coli serotype O157:H7 was isolated from the stool culture. At autopsy she was found to have bilateral symmetrical striatal necrosis involving mainly the putamen and lateral globus pallidus. The main microscopic findings consisted of coagulative necrosis, endothelial damage and microthrombosis. Scattered microscopic lesions of similar appearances were noted in the parietal cortex, external capsule and fornix. This case is of particular interest because of the rarity of bilateral striatal necrosis in hemolytic-uremic syndrome and the recent experimental data which implicate E. coli endotoxin in the pathogenesis of cerebral lesions in this syndrome.

Coagulative necrosis

Putamen

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Characterization of treatment and outcomes in a population-based cohort of patients with chronic lymphocytic leukemia referred for cytogenetic testing in British Columbia, Canada

Leukemia Research (2017)

Steven J.T. Huang Lauren J. Lee Alina S. Gerrie Tanya L. Gillan Hélène Bruyère

Chemoimmunotherapy

Regimen

10.1016/j.leukres.2017.01.023

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Citations (8)

Influence of clone and deletion size on outcome in chronic lymphocytic leukemia patients with an isolated deletion 13q in a population‐based analysis in British Columbia, Canada

Genes Chromosomes and Cancer (2015)

Steven J.T. Huang Tanya L. Gillan Alina S. Gerrie Monica Hrynchak Aly Karsan

Deletion of the long arm of chromosome 13 (del(13q)) as the sole abnormality in chronic lymphocytic leukemia (CLL) portends a good prognosis; however, there is great outcome heterogeneity within this subgroup. The percentage of cells with a del(13q) (clone size) and the extent of the deletion are two factors that may affect outcome in CLL patients with isolated del(13q). We analyzed 248 CLL patients from the BC Provincial CLL database identified as having isolated del(13q) detected pretreatment by interphase fluorescence in situ hybridization to determine what impact clone and deletion size had on overall survival (OS) and treatment free survival (TFS). Patients with 60% or more of nuclei with a del(13q) had shorter TFS and shorter OS. A large deletion, encompassing the RB1 gene locus, was detected in half of the 90 cases with available specimens for testing, and there was no significant difference in OS and TFS between RB1 ‐deleted and RB1 ‐not‐deleted cases. Further study in a larger sample size is required to determine the clinical interest of RB1 locus testing; however, clone size of del(13q) does predict TFS and OS and may better refine prognosis in this clinically heterogeneous population. © 2015 Wiley Periodicals, Inc.

clone (Java method)

Interphase

Chromosome 13

Gene deletion

10.1002/gcc.22294

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Citations (12)

Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders

Journal of Autism and Developmental Disorders (2011)

Patrick Malenfant Xudong Liu Melissa L. Hudson Ying Qiao Monica Hrynchak

Williams Syndrome

Heritability of autism

Etiology

Association (psychology)

10.1007/s10803-011-1389-4

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Citations (69)

Clinical Genetic Clues to the Origins and Outcomes of Autism Spectrum Disorders

Journal of Developmental & Behavioral Pediatrics (2010)

E.D. Servin López Monica Hrynchak Jeanette Hildebrand Prescilla Carrion Levina Kasmara

Heritability of autism

10.1097/01.dbp.0000390278.93109.10

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Cardio‐facio‐cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7

American Journal of Medical Genetics (1993)

Elena Lopez‐Rangel Monica Hrynchak Jan M. Friedman

Abstract We describe a 6½‐year‐old girl with the cardio‐facio‐cutaneous (CFC) syndrome. She presents with most of the characteristics of this condition: typical facial changes, congenital heart defect, slow growth, ectodermal dysplasia, and developmental delay. Chromosome analysis disclosed a 46,XX,inv(7)(q21.2q 31.2) mat karyotype. © 1993 Wiley‐Liss, Inc.

Chromosomal inversion

Heart defect

10.1002/ajmg.1320470306

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Citations (14)

Monica Hrynchak

Papers

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