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Biomedical subjects

L Goldin

Publications and source records attributed to L Goldin.

7 recordsLinked to original sources
PubMed2002

Personal identification based on radiographic vertebral features.

Personal identification of human remains constitutes about 10% of the normal caseload of any forensic medicine practice. Identification can be achieved by a variety of methods, one of which is the comparison of antemortem and postmortem radiographs. There are numerous accounts of cranial and dental radiographic features useful for identification, whereas the availability of postcranial radiographs and especially plates that depict the vertebral column is less widespread among the forensic community. The authors here review the various vertebral features instrumental in positive identification that can be identified on radiographs of the spine.

Adult↗
PubMed1999

[Fatal rat bites].

We present a rare case of infant death due to blood loss resulting from multiple rat bites. Domestic dogs and cats cause most animal bites. Bites of a house rat usually cause bacterial infection, successfully treated with antibiotics. There is little information about death due to house rat bites. Since the wounds they cause tend to occur post-mortem, they are usually wedged, clean and without subcutaneous bleeding. An 11-week-old, malnourished infant girl was bitten to death while sleeping in her mother's bed in a rat-infested home. The infant's clothing was covered with blood, parts of her face were missing and marks of gnawing were present on her neck and extremities. There was subcutaneous bleeding around the wounds indicating that they were inflicted while the child was alive. Autopsy findings revealed profound blood loss. We conclude that a combination of low socio-economic status, severe failure to thrive, and poor hygiene in a rat-infested environment contributed to the fatal outcome in this attack.

Animals↗
PubMed1994

Search for a schizophrenia susceptibility locus on human chromosome 22.

We used 10 highly informative DNA polymorphic markers and genetic linkage analysis to examine whether a gene locus predisposing to schizophrenia is located on chromosome 22, in 105 families with schizophrenia and schizoaffective disorder. The LOD score method, including analysis for heterogeneity, provided no conclusive evidence of linkage under a dominant, recessive, or penetrance free model of inheritance. Affected sib-pair analysis was inconclusive. Affected pedigree member analysis gave only suggestive evidence for linkage. Multipoint APM analysis, using 4 adjacent loci including D22S281 and IL2RB, a region of interest from the APM analysis, gave non-significant results for the three different weighting functions.

Chromosome Mapping↗
PubMed1992

Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin.

We recently discovered an amino acid-altering heterozygous mutation in codon 178 of the PRNP amyloid precursor gene in patients with familial Creutzfeldt-Jakob disease. This mutation is now shown to be associated with the occurrence of disease in 7 unrelated families of Western European origin, among which a total of 65 members are known to have died from Creutzfeldt-Jakob disease. The mutation was detected in each of 17 tested patients, including at least 1 affected member of each family, and in 16 of 36 of their first-degree relatives, but not in affected families with other mutations, patients with the nonfamilial form of the disease, or 83 healthy control individuals. Linkage analysis in two informative families yielded a lod score of 5.30, which, because no recombinants were found, strongly suggests that codon 178Asn is the actual disease mutation.

Adult↗
PubMed1991

Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families.

200Lys mutation in the human PRNP coding region has been identified in 45 of the 55 CJD-affected families thus far presented to our NIH laboratory. These codon 200Lys families have a total of 87 patients, and originate from 7 different countries: Slovakia, Poland, Germany, Tunisia, Greece, Libya, and Chile. Forty-seven patients were neuropathologically verified, and brain tissue from 14 patients transmitted disease to experimental primates. The mutation was found by direct sequencing in 4 patients, and it was detected by restriction endonuclease analysis with BsmA 1 and/or the single nucleotide extension reaction in 36 other patients and 45 of 109 first degree relatives (1 parent, 14 siblings, and 30 children). The mutation is associated with all known geographical clusters of CJD (Slovakia, Libyan Jews, Chile) in which the annual mortality rate is tens or hundreds of times higher than the world average of 1 per million. All patients originating from the cluster areas carried the mutation, but it was seen in only 1 of 103 unrelated control individuals from the same areas, and in none of 102 controls from other areas, indicating a strong association between the mutation and disease. The penetrance of the mutation was estimated to be 0.56. Branches of some families migrating from cluster areas to other countries continue to have CJD over several generations, suggesting that CJD in these families is a genetic disorder, in which the 200Lys mutation is responsible for the disease.

Africa↗
PubMed1989

Detection of marker associations with a dominant disease gene in genetically complex and heterogeneous diseases.

Linkage disequilibrium of a marker allele with disease may characterize a chromosomal region containing the disease gene. In several diseases, only a limited number of pedigrees are linked to a particular region, because of linkage heterogeneity. Disequilibrium in this situation is more easily detected when the association is positive (an infrequent marker allele associated with disease mutation), and sampling is conditional on presence or absence of illness in individuals or gametes. Defining H as the marker frequency in illness-transmitting gametes, and Q the marker frequency in normal chromosomes, we compute the power of a given sample (of ill persons/gametes) to detect association in a disease that is genetically heterogeneous, with a dominantly transmitted form linked to a marker. The estimation of Q and the effects of linkage heterogeneity (when unrelated individuals are examined) are also analyzed. Two linked pedigrees give acceptable power to detect association when the allele is frequent enough in illness gametes (H greater than or equal to .6) and infrequent enough in normals (Q less than or equal to .01). If H greater than or equal to .2, 14 pedigrees are needed to give the same power. From the analysis of different values of Q and H, it appears that even in the presence of considerable genetic heterogeneity and complex inheritance (where some normals carry the disease mutation), association may be detected with clinically feasible sample sizes.

Alleles↗