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Biomedical subjects

M Michael Cohen

Publications and source records attributed to M Michael Cohen.

33 records · Page 2Linked to original sources
PubMed2003

Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes.

Mental deficiency, alterations in performance, and central nervous system (CNS) abnormalities are discussed in the following overgrowth syndromes: Sotos syndrome, Weaver syndrome, Proteus syndrome, neurofibromatosis type 1, fragile X syndrome, syndromes with neonatal hypoglycemia, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sturge-Weber syndrome, Bannayan-Riley-Ruvalcaba/Cowden syndrome, macrocephaly-autism syndrome, PEHO syndrome, chromosomal syndromes, and other miscellaneous syndromes.

Abnormalities, Multiple↗
PubMed2003

Craniofacial anomalies: Clinical and molecular perspectives.

The first three disorders discussed are abnormalities of bone: too little bone in cleidocranial dysplasia caused by mutations in RUNX2; too much bone in fibrodysplasia ossificans progressiva with overexpression of BMP4; and abnormal bone in McCune-Albright syndrome and fibrous dysplasia caused by mutations in GNAS1. Disorders of the sonic hedgehog signaling network are discussed next, including holoprosencephaly and the nevoid basal cell carcinoma syndrome, the former being caused by sonic hedgehog (SHH) mutations and the latter being caused by patched mutations (PTCH).

Basal Cell Nevus Syndrome↗
PubMed2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Malformations of the craniofacial region are reviewed with respect to evolutionary, embryonic, genetic, and clinical perspectives under the following headings: How Old Is Our Head?, Head Organization Genes, Genetics of Craniofacial Anomalies, Craniofacial Derivatives, Anencephaly, Cephalocele, Holoprosencephaly, Craniosynostosis, Hypertelorism, Branchial Arch Anomalies, and Orofacial Clefting.

Abnormalities, Multiple↗
PubMed2002

Some chondrodysplasias with short limbs: molecular perspectives.

A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia, hypochondroplasia, thanatophoric dysplasia (types 1 and 2), San Diego platyspondylic dysplasia, and SADDAN.

Achondroplasia↗
PubMed2002

Autosomal recessive alobar holoprosencephaly with essentially normal faces.

Holoprosencephaly is associated with a diagnostic face approximately 80% of the time. We report three siblings with alobar holoprosencephaly and essentially normal faces. A similar family was reported by Khan et al. [1970: Dev Med Child Neurol 12:71-76]. Alobar holoprosencephaly with essentially normal faces has also been observed in infants of diabetic mothers [Barr et al., 1983: J Pediatr 102:565-568].

Face↗
PubMed2002

Teratogenesis of holoprosencephaly.

Teratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by four tables summarizing etiologic factors. Subjects evaluated here include: 1) maternal diabetes; 2) ethyl alcohol; 3) retinoic acid; 4) mutated genes and teratogens involving the sonic hedgehog signaling network and cholesterol biosynthesis; and 5) cholesterol trafficking, sterol adducts, target tissue response, and sterol sensing domain.

Abnormalities, Drug-Induced↗
PubMed2002

Major long-term factors influencing dental education in the twenty-first century.

With evolutionary advances in oral science over the long term, clinical reliance on chemotherapeutics, bacterial replacement therapy, and immunization will necessitate a broader background in medicine. The dramatic increase in the old age population will also require a much stronger medical background. By 2050, those over fifty-five years of age will represent 56 percent of the population, and 25 percent of these will be sixty-five years of age and older. The merging of dental and medical education is predicted to occur within the twenty-first century. Other topics addressed include research activities, with recommended strategies to enhance the integration of scientific and clinical dental approaches; the problem of dental faculty isolation; and the implications of financial constraint and accountability.

Adult↗