Prenatal and early life farm exposure, and breastfeeding, are associated with protection from allergic diseases. We hypothesize that farm exposure influences the human breast milk microbiome and immune proteins. The immune protein profiles and microbial communities of 152 human breast milk samples were compared among three maternal farm exposure groups (traditional agrarian, farm, and non-farm) in rural Wisconsin to identify signatures associated with farm status and atopic disease.
View Article and Find Full Text PDFOculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting for ~50% of cases worldwide. The apparent 'missing heritability' in OCA is well described, with ~25-30% of clinically diagnosed individuals lacking two clearly pathogenic variants.
View Article and Find Full Text PDFMany studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.
View Article and Find Full Text PDFSitosterolemia is a rare atherogenic sterol storage disease with variability in its presentation requiring a high degree of clinical suspicion. We present 8 cases of sitosterolemia from an Amish kindred that, despite a background of decreased genetic and lifestyle variability, still had markedly variable presentations. ().
View Article and Find Full Text PDFThe Plain community is the fastest-growing religious minority in Wisconsin. This community has a high incidence of genetic disorders, many of which are identifiable through newborn screening. We describe efforts by the Wisconsin Newborn Screening Program (WNSP) to improve health care in the Plain community by targeting early identification of, and intervention for, patients with inherited metabolic disorders.
View Article and Find Full Text PDFGM3 synthase, encoded by ST3GAL5, initiates synthesis of all downstream cerebral gangliosides. Here, we present biochemical, functional, and natural history data from 50 individuals homozygous for a pathogenic ST3GAL5 c.862C>T founder allele (median age 8.
View Article and Find Full Text PDFAnn Allergy Asthma Immunol
August 2018
Wisconsin Amish have a lower prevalence of allergic disease compared to Old Order Mennonite.
View Article and Find Full Text PDFPropionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomatic course and eventual cardiac complications. Thus, Amish women with PA may reach reproductive age without clinical sequelae, but are at increased risk for metabolic decompensation during pregnancy, delivery and postpartum period.
View Article and Find Full Text PDFOld Order Amish and Mennonites, or Plain populations, are a growing minority in North America with unique health care delivery and access challenges coupled with higher frequencies of genetic disorders. The objective of this study was to determine newborn screening use and attitudes from western Wisconsin Plain communities. A cross-sectional survey, with an overall response rate of 25 %, provided data representing 2010 children.
View Article and Find Full Text PDFIdentification of the fragment ion species associated with the ion reaction mechanism of triacetone triperoxide (TATP), a homemade peroxide-based explosive, is presented. Ion mobility spectrometry (IMS) has proven to be a key analytical technique in the detection of trace explosive material. Unfortunately, IMS alone does not provide chemical identification of the ions detected; therefore, it is unknown what ion species are actually formed and separated by the IMS.
View Article and Find Full Text PDFPurpose: Recent national guidelines encourage a trial of labor after cesarean (TOLAC) as a means of increasing vaginal births after cesarean (VBACs) and decreasing the high US cesarean birth rate and its consequences (2010 National Institute of Health Consensus Statement and American College of Obstetricians and Gynecologists revised guideline). A birthing center serving Amish women in Southwestern Wisconsin offered an opportunity to look at the effects of local culture and practices that support vaginal birth and TOLAC. This study describes childbirth and perinatal outcomes during a 17-year period in LaFarge, Wisconsin.
View Article and Find Full Text PDFMayo Clin Proc
January 2002
Objective: To describe a cluster of cases of pericarditis in a midwestern family of German and Danish ancestry.
Patients And Methods: Retrospective review of available medical records identified 5 family members in 2 generations with confirmed diagnosis of pericarditis.
Results: Five family members, 3 males and 2 females, presented for medical evaluation of recurrent chest pain between 1969 and 1991.