1.Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction
Anthony R HOGAN ; Krishnamurti A RAO ; Willa L THORSON ; Holly L NEVILLE ; Juan E SOLA ; Eduardo A PEREZ
Pediatric Gastroenterology, Hepatology & Nutrition 2019;22(5):487-492
Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.
Cystic Fibrosis
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Deafness
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Duodenum
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Female
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Fistula
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Frameshift Mutation
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Hirschsprung Disease
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Humans
;
Ileus
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Intestinal Pseudo-Obstruction
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Jejunum
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Meconium
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Necrosis
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Parents
;
Waardenburg Syndrome
2.A preliminary study of platelet hyperactivity in the chronic indeterminate phase of Chagas’ disease
Flavio Rojas Castillejos ; Laura Perez-Campos Mayoral ; Gabriel Mayoral Andrade ; Maria Teresa Hernandez-Huerta ; Socorro Pina-Canseco ; Ruth Martinez Cruz ; Efrain Herrera Colmenares ; Eduardo Perez-Campos Mayoral ; Paz Maria Salazar ; Martha Bucio Torres ; Margarita Cabrera Bravo ; Margarito Martinez Cruz ; Carlos Matí ; as Cervantes ; Roxana Diaz Albarraz ; Joel Lopez Matias ; Gabriela Ines Rios Arias ; Gema Hrnandez Bernardino ; Ernesto Perez Matus ; Rosalinda Mendez Trujillo ; Luis Manuel Sanchez Navarro ; Alma Dolores Perez Santiago ; Eduardo Perez Campos
Tropical Biomedicine 2018;35(3):678-683
The chronic indeterminate phase of Chagas’ disease is asymptomatic despite
positive test results for antibodies specific to Trypanosoma cruzi. CD62P-APC (P-selectin)
and PAC-1 FITC (GpIIb/IIIa) may improve diagnosis as biomarkers of platelet activity. Nine
asymptomatic seropositive subjects, previously untreated, were selected from a blood bank
within a year of Chagas’ disease detection, in addition to a control group of four. All subjects
were evaluated by flow cytometry for CD62P, PAC-1 and CD41, and in a complementary
study, by Tissue Doppler Echocardiography for isovolumic relaxation times (IVRT) and E/A
ratios. The subjects were classified as positive or negative for CD62P and PAC-1 by a cut off
obtained from their mean±2SD. For IVRT and E/A ratios, cut offs were obtained from the
American Society of Echocardiography and the European Association of Cardiovascular
Imaging recommendations. Fisher’s exact test was used for associated findings. Pre-test and
post-test probability, sensitivity, specificity, positive and negative predictive values and
likelihood ratios were calculated. Abnormalities were expressed as platelet hyperactivity
and ventricular dysfunction in CD62P, PAC-1, IVRT and E/A ratios. CD62P appears to have
greater sensitivity (0.75) and PAC-1, more accurate specificity (0.75), which may explain
thrombotic events in Chagas’ disease. We recommend the use of CD62P and PAC-1 as biomarkers
of platelet hyperactivity in patients in the chronic indeterminate phase of Chagas’ disease.
3.Intron 4 VNTR (4a/b) Polymorphism of the Endothelial Nitric Oxide Synthase Gene Is Associated with Breast Cancer in Mexican Women.
Ramiro RAMIREZ-PATINO ; Luis Eduardo FIGUERA ; Ana Maria PUEBLA-PEREZ ; Jorge Ivan DELGADO-SAUCEDO ; Maria Magdalena LEGAZPI-MACIAS ; Rocio Patricia MARIAUD-SCHMIDT ; Adriana RAMOS-SILVA ; Itzae Adonai GUTIERREZ-HURTADO ; Liliana GOMEZ FLORES-RAMOS ; Guillermo Moises ZUNIGA-GONZALEZ ; Martha Patricia GALLEGOS-ARREOLA
Journal of Korean Medical Science 2013;28(11):1587-1594
The endothelial nitric oxide synthase (eNOS) gene plays an important role in several biological functions. Polymorphisms of the eNOS gene have been associated with cancer. It has been suggested that the VNTR 4 a/b polymorphism may affect the expression of eNOS and contributes to tumor promotion in the mammary gland. We examined the role of the eNOS4 a/b polymorphism by comparing the genotypes of 281 healthy Mexican women with the genotypes of 429 Mexican women with breast cancer (BC). The observed genotype frequencies for control and BC patients were 0.6% and 0.7% for a/a (polymorphic); 87% and 77% for a/a (wild type); and 12% and 22% for a/b respectively. We found that the odds ratio (OR) was 1.9, with a 95% confidence interval (95%CI) of 1.29-2.95, P = 0.001 for genotypes a/a-a/b, b/c. The association was also evident when comparing the distribution of the a/a-a/b genotypes in patients with high levels of glutamate-oxaloacetate transaminase (SGOT) (OR, 1.93; 95% CI, 1.14-3.28; P = 0.015); undergoing menopause with high levels of SGOT (OR, 2.0; 95% CI, 1.1-3.84); and with high levels of glutamic-pyruvic transaminase (SGPT) (OR, 3.5; 95% CI, 1.56-8.22). The genotypes a/a-a/b are associated with BC susceptibility in the analyzed samples from the Mexican population.
Adult
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Alanine Transaminase/*blood
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Aspartate Aminotransferases/*blood
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Breast Neoplasms/*blood/*genetics
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Female
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Gene Frequency
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Genetic Predisposition to Disease
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Genotype
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Humans
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Mexico
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Middle Aged
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Nitric Oxide/biosynthesis/metabolism
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Nitric Oxide Synthase Type III/*genetics
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Polymorphism, Single Nucleotide