PubMed Health⌕ Search

Biomedical subjects

P M Fernhoff

Publications and source records attributed to P M Fernhoff.

At least 19 recordsLinked to original sources
PubMed1999

Monitoring the prevalence of congenital hypothyroidism for 20 years near the Savannah River site.

OBJECTIVES: The main objectives were to describe the epidemiology of primary congenital hypothyroidism (CH) in Georgia during the past 20 years and specifically to determine whether there was a significant increase in CH prevalence proximal to the Savannah River Site (SRS), a nuclear plant. METHODS: Data were derived from the Georgia Newborn Screening Program. Frequencies were determined for race, sex, birth weight and birth month. Seasonality effects were investigated and the prevalence was determined and mapped by health district. RESULTS: The majority of the CH cases were female, white and of average birth weight. The sex ratio varied by race/ethnicity. There was not a statistically significant increase in the prevalence in the eastern districts that were in close proximity to the SRS. CONCLUSIONS: Although there were differences in the prevalence between health districts, we found no increased prevalence of CH in those health districts proximal to the SRS.

Congenital Hypothyroidism↗
PubMed1997

Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992.

Very little data are available from population-based studies on congenital hypothyroidism (CH) epidemiology and patterns of associated birth defects. By linking data from two population-based registries, we describe the epidemiology of CH and associated defects in Atlanta from 1979-1992. Cases included all infants with CH born from 1979-1992 to mothers residing in the metropolitan Atlanta area at the time of birth. We ascertained CH cases by reviewing newborn screening records and records of the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based registry of all serious birth defects diagnosed during a child's first year of life. We linked CH cases with MACDP records to ascertain the presence of serious birth defects among infants with CH. Of 97 infants identified with CH through newborn screening and/or MACDP (1:5,000 live births), 87 had primary CH and 10 had secondary. The rate of primary CH was higher among non-hispanic whites than among blacks (1:4,400 vs. 1:10,000) and among females compared with males (1:4,000 vs. 1:7,700). Among infants with primary CH, 77 had isolated CH, 3 had Down syndrome, and 7 had unrelated major structural defects. Based on Atlanta population rates of Down syndrome and major structural anomalies, we infer i) infants with Down syndrome have a 35-fold increased risk for primary CH compared with infants in the general population (P < .0001); ii) infants with primary CH have a 2.2-fold increased risk for major structural anomalies (P < .05). Because this is the first population study of CH in the United States in which data from two population-based registries were linked, the epidemiologic patterns and associated defects are more representative than those found in studies based on newborn screening records only.

Adult↗
PubMed1996

Unique mosaicism of tetraploidy and trisomy 8: clinical, cytogenetic, and molecular findings in a live-born infant.

We report on a live-born infant with mosaicism of tetraploidy and trisomy 8 who had craniofacial abnormalities, cardiac and genitourinary defects, agenesis of the corpus callosum, and anomalies of limbs. The infant died at age 14 weeks. Molecular studies were done on peripheral blood lymphocytes and cultured amniocytes to determine the origin of the cytogenetic abnormalities. On the basis of the results, we describe a possible mechanism to explain these abnormalities. To our knowledge, this infant represents the first reported case of mosaic trisomy 8 with a tetraploid cell line.

Abnormalities, Multiple↗
PubMed1995

Impact of prenatal diagnosis on the birth prevalence of neural tube defects, Atlanta, 1990-1991.

OBJECTIVE: To determine the impact of prenatal diagnosis on the birth prevalence of neural tube defects (NTDs) in Atlanta during 1990 through 1991. METHODS: Live-born and stillborn infants with NTDs who were at least 20 weeks' gestation were ascertained by the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based birth defects registry. Prenatally diagnosed NTD-affected pregnancies were ascertained from the four perinatal centers and the three genetic laboratories operating in Atlanta during 1990 through 1991. Fetal death certificates were also reviewed for potential cases. RESULTS: During 1990 through 1991, MACDP ascertained 59 NTD cases, for a birth prevalence of 0.77/1000 live births. During this period, an additional 28 NTD-affected pregnancies were detected prenatally and terminated before 20 weeks' gestation. The adjusted NTD rate during 1990 through 1991, which includes prenatally diagnosed cases, was 1.13/1000 live births. CONCLUSIONS: Prenatal diagnosis is making a substantial impact on the birth prevalence of NTDs in Atlanta. However, since NTD rates in Atlanta were 2 to 2.5 per 1000 live births in 1970, prenatal diagnosis and termination of pregnancy does not completely account for the declining rate of NTDs.

Abortion, Induced↗
PubMed1994

Corneal opacities in spondyloepiphyseal dysplasia tarda.

Spondyloepiphyseal dysplasia tarda is an inherited skeletal dysplasia involving the spine and epiphyses of long bones with onset in childhood, giving rise to disproportionate short stature and degenerative spine and hip disease. Associated ocular disease is not commonly recognized. We report a patient with spondyloepiphyseal dysplasia tarda and a unique pattern of corneal opacities. Bilateral, irregularly shaped, nodular, deeply posterior opacities confined to the peripheral cornea were noted in this patient. A central stromal granularity was also seen. Minimal visual loss was associated with these findings. An X-linked inheritance pattern is presumed but could not be confirmed.

Aged↗
PubMed1993

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.

Chromosome 15 (15q11-q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader-Willi syndrome (PWS). We present the first case of a child with a balanced 15;15 translocation and AS in whom molecular studies were crucial in confirming a diagnosis. DNA polymorphisms demonstrated paternal uniparental disomy for chromosome 15, consistent with the diagnosis of AS. The molecular studies also showed the patient to be homozygous at all loci for which the father was heterozygous, suggesting that the structural rearrangement was an isochromosome 15q and not a Robertsonian translocation.

Angelman Syndrome↗
PubMed1992

Tissue specificity and stability of mosaicism in Pallister-Killian +i(12p) syndrome: relevance for prenatal diagnosis.

We ascertained +i(12p) mosaicism during third trimester in a case of polyhydramnios and diaphragmatic hernia. Primary cultures of amniocytes had colonies with +i(12p), colonies without +i(12p), and mixed colonies with 46/47,+i(12p). The likely explanation was instability and loss of i(12p) during somatic divisions of amniocytes. Fetal blood in third trimester retained +i(12p) in 13% of cells. A review of mosaicism in published cases indicates that factors influencing the presence of +i(12p) include tissue type and in vitro and in vivo age. In blood, amniocyte, and probably bone marrow cultures, +i(12p) is less stable than in fibroblast-like cultures derived from skin and other tissues. Young cultures at early passage are more likely to have +i(12p) than old cultures. Cultures from young (especially fetal) donors are more likely to retain +i(12p) than cultures from adult donors. These rules will be important in determining appropriate tissues for diagnosis and interpretation of mosaicism in this disorder.

Adult↗
PubMed1992

Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.

Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is still unclear. We evaluated three SNE pedigrees (two singleton cases and a pedigree) biochemically for OXPHOS abnormalities and genetically for four mtDNA point mutations. There was a complex I defect in all three pedigrees that was associated with a complex III defect in two individuals. An mtDNA mutation in the ATPase, subunit 6 gene (np 8993) was present in one SNE pedigree. This mutation was maternally inherited, heteroplasmic, produced marked clinical and biochemical heterogeneity between pedigree members, and varied along the maternal lineage at levels ranging from 0% to > 95% of the total mtDNAs. These mtDNA mutations were not present in the other two pedigrees. These observations emphasize the importance of screening for OXPHOS defects and mtDNA mutations in SNE cases.

Adenosine Triphosphatases↗
PubMed1991

Pyruvate carboxylase deficiency: a benign variant with normal development.

The devastating nature of a pyruvate carboxylase deficiency is underscored by the uniformly fatal outcome of the neonatal (French) type and the severely disabling and ultimately fatal outcome of the infantile (North American) type. We report a 7-y-old girl with metabolic and biochemical features of the North American phenotype. Remarkably, the clinical course has been benign with preservations of motor and mental abilities. The residual enzyme activity in cultured skin fibroblast homogenates was 1.8% and cross-reacting material was present in normal abundance and electrophoretic mobility. She has had several episodes of metabolic acidosis with elevated lactate, pyruvate, alanine, beta-hydroxybutyrate, acetoacetate, lysine, and proline values, and undetectably low aspartate concentrations. These crises have been managed by rehydration and bicarbonate therapy. We are unable to provide a satisfactory explanation for the uniquely benign clinical course that has been experienced by this patient.

Acidosis, Lactic↗
PubMed1990

Pre- and postnatal diagnosis of trisomy 4 mosaicism.

A liveborn girl with 46,XX/47,XX+4 mosaicism is reported for the first time. The diagnosis of true mosaicism was established initially in the assay of cultured amniotic fluid cells, although fetal blood obtained by percutaneous umbilical blood sampling showed a 46,XX chromosome constitution. The liveborn infant had manifestations previously reported in dup(4p) and dup(4q) syndromes. Cells in cord and arterial blood samples also were 46,XX, but cultures of placenta and bilateral forearm skin biopsies showed 46,XX/47,XX,+4 mosaicism. This case illustrates the disadvantage of chromosome analysis from blood alone when tissue-specific mosaicism is present.

Amniocentesis↗
PubMed1989

Prenatal ascertainment of triploidy by maternal serum alpha-fetoprotein screening.

We report our experience in ascertaining fetal triploidy during routine maternal serum alpha-fetoprotein (MSAFP) screening. Three cases were identified after elevated MSAFP tests. Two of the three had normal amniotic fluid alpha-fetoprotein (AFAFP). The third had amniocentesis too late for AFAFP interpretation. Three additional cases were detected by amniocentesis without prior MSAFP screening and none had an elevated AFAFP. A literature review revealed eight triploid fetuses detected as a result of an elevated MSAFP. Of the five with AFAFP quantitation, only one had an abnormal value and the elevation was minimal. In these 14 cases from our own and other reports, ultrasound findings of placental and fetal abnormalities were often noted, but a pattern diagnostic of triploidy was not present. We conclude that, for optimal prenatal detection of triploidy, fetal karyotyping should be included when an amniocentesis is performed for elevated MSAFP.

Adult↗