The Update, November 2014

The Update is a bi-weekly web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It is posted the second and fourth week of every month, and provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers.

OBJECTIVE: To examine the occurrence of arthrogryposis multiplex congenita (AMC) in Europe and to identify possible risk factors. STUDY DESIGN: Retrospective population-based epidemiological study using EUROCAT congenital anomaly registries. The study population included all cases of AMC (based on WHO ICD-9 or ICD-10 codes) that were livebirths (LB), fetal deaths (FD) from 20 weeks gestation and underwent termination of pregnancy for fetal anomaly (TOPFA), 1980-2006. RESULTS: Among 8.9 million births covered by 24 EUROCAT congenital anomaly registries, 757 AMC cases were reported. This gives a prevalence of 8.5 per 100,000. Five hundred and four (67%) AMC cases were LB, 199 (26%) cases were TOPFA, and FD occurred in 54 (7%) cases. First week survival status was known for 381 of the 504 LB (76%), of whom 87 (23%) died within the first week of life. Perinatal mortality associated with AMC was 32%. Two hundred and eighty-two (37%) cases had isolated AMC, 90 (12%) had additional syndrome or chromosomal anomalies and 385 (51%) had other major malformations. The same or similar anomaly was reported in 13% of siblings and in 12% of the mother's own family background. Information on prenatal testing was available for 521 cases of which 360 tested positive for a congenital anomaly, representing a sensitivity of 69%. Information on maternal illness before and during pregnancy and medication use in the first trimester was available for approximately a third of the mothers, of whom the vast majority reported no maternal illness or medication use. CONCLUSION: AMC is a rare occurrence, with a reported prevalence of 1:12,000. In this study, while information on potential risk factors such as maternal disease or maternal use of drugs was limited, they did not appear to be associated with the occurrence of AMC. AMC was lethal in a third of cases, either in utero or during the first week of life, although this may not be solely attributed to AMC as most cases had additional malformations.

The Update, December 2014

The Update is a bi-weekly web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It is posted the second and fourth week of every month, and provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, January 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, March 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, April 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

BACKGROUND/AIMS: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. METHODS: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. RESULTS: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. CONCLUSIONS: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.

The Update, May 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, June 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, July 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, August 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, September 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11 months of age, during an intercurrent illness. Autopsy showed spongiform lesions in the subcortical white matter, in the basal ganglia, and in the dentate nuclei. Investigations in an older sister with developmental delay, ataxia, and tremor revealed L-2-hydroxyglutaric aciduria and subcortical white matter changes with hyperintensity of the basal ganglia and dentate nuclei at brain magnetic resonance imaging. Both children were homozygous for a splice site mutation in the L2HGDH gene. Sudden death has not been reported in association with L-2-hydroxyglutaric aciduria so far, but since this inborn error of metabolism is potentially treatable, early diagnosis may be important.

The Update, November 2015

The Update is web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.

The Update, October 2015

The Update is a bi-weekly web newsletter published by the Iowa Department of Public Health's Bureau of Family Health. It is posted the second and fourth week of every month, and provides useful job resource information for departmental health care professionals, information on training opportunities, interdepartmental reports and meetings, and additional information pertinent to health care professionals.