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Biomedical subjects

H R Cowell

Publications and source records attributed to H R Cowell.

At least 55 records · Page 3Linked to original sources
PubMed1981

Genetic factors in the etiology of mental retardation.

Mental retardation is a condition with multiple, disparate causes, both environmental and genetic. In this article we have tried to characterize, in a general fashion, the nature of the genetic factors through a discussion of polygenic inheritance, single gene errors, and chromosomal anomalies. Despite the existence of a large and complex body of knowledge, which has only been touched upon here, it is sobering to realize that we cannot diagnose almost half of the mentally retarded. Even in those in whom a genetic etiology is obvious, we know little about the intervening processes that operate between the gene and the mental deficiency it produces. Under the conditions, therapy holds little promise, while prevention assumes a high priority. Prevention of mental retardation due to genetic factors requires the physician to have a basis knowledge of genetic principles and syndromes, of prenatal diagnostic technology, and a determination to inform, even when the patient does not ask.

Adolescent↗
PubMed1980

Trisomy 6q25 leads to 6qter in two sisters resulting from maternal 6;11 translocation.

Chromosome banding was used to define a partial duplication of the long arm of chromosome 6 (6q25 leads to 6qter) in two profoundly affected sisters and to identify their phenotypically normal mother and sister as balanced translocation carriers whose karyotypes were interpreted as 46,XX,t(6;11) (q25;q25). Prominent clinical features included profound mental retardation, hypertelorism, micrognathia, down-turned mouth, dental anomalies, clubfeet, webbed neck, late progressive scoliosis, flexion contractures, and low total finger ridge count. By comparison with published reports, it has been possible to establish a trisomy 6q25 leads to 6qter syndrome.

Abnormalities, Multiple↗
PubMed1980

Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter.

A de novo partial 13q monosomy is reported in a severely affected 8-year-old female with the karyotype 46,XX,del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, ptosis, flat nasal bridge, protruding upper incisors, facial asymmetry, short neck, hypoplastic thumbs, scoliosis and clubfeet. The deletion was demonstrable by R-banding but was not apparent by GTG banding. The locus for esterase D (EC 3.1.1.1) is excluded from the deleted segment 13q32 leads to 13qter.

Abnormalities, Multiple↗
PubMed1979

Charcot-Marie-Tooth disease and schizophrenia in identical twins.

Charcot-Marie-Tooth disease and schizophrenia occurred in monozygotic twins. Dermatoglyphics and blood grouping determined monozygocity. Charcot-Marie-Tooth disease appeared to be an autosomal dominant trait transmitted from the mother. No definite evidence of inheritance was seen for schizophrenia.

Adult↗
PubMed1979

Lower extremity fractures simulating infection in myelomeningocele.

Thirteen patients with myelomeningocele sustained 33 fractures of the lower extremity. Fourteen fractures were accompanied by increased local heat, swelling, redness and a systemic response, including an elevated temperature and leukocyte count. Diagnosis of these fractures, which occur without a significant history of trauma, requires special roentgenographic studies. If routine films fail to reveal a fracture in a swollen red extremity in patients with myelomeningocele, stress films should be obtained in the area of the major swelling or where clinical pseudo-motion is suspected. The proper treatment of these fractures and the associated elevated temperature is immobilization. When these injuries are immobilized, the leukocyte count and temperature quickly return to normal.

Adolescent↗
PubMed1978

Cytogenetic abnormalities in orthopedic patients.

Patients with orthopedic problems may also have chromosomal abnormalities. Individuals who present with subtle clinical findings suggestive of a known syndrome resulting from a chromosomal abnormality, such as Klinefelter syndrome, Turner syndrome, or any of the known trisomiers, should be investigated further in order to confirm the diagnosis. In addition, those patients who have multiple congenital abnormalities in several systems should also have chromosome analysis. This should be done not only to gain new information in regard to chromosome abnormalities, but also to establish a diagnosis for the individual and thus provide proper genetic counseling for the family. If the clinical picture strongly suggests a chromosomal abnormality, and routine karyotyping does not demonstrate one, it is imperative that one or more banding techniques be utilized before a chromosomal abnormality can be ruled out.

Abnormalities, Multiple↗
PubMed1975

Minibike and motorcycle accidents in adolescents. A new epidemic.

Twenty-one adolescents, ranging in age from 9 to 16 years, sustained accidental injuries while operating a minibike, motorcycle, or go-cart. Their injuries ranged from lacerations and contusions to paraplegia and amputation. This study suggests that this new pattern of injury is reaching epidemic levels in this age group.

Accidents, Traffic↗
PubMed1975

Genetic aspects of orthopedic conditions.

Genetic conditions seen by orthopedists may be divided into Mendelian disorders, chromosome abnormalities and multifactorial conditions. Mendelian disorders involve the abnormality of a single gene and obey the rules of Mendelian inheritance. Chromosome abnormalities are caused by the absence or duplication of a sufficient number of genes to allow this abnormality to be detected by chromosome studies. Chromosome studies are used to confirm the diagnosis of well described syndromes of deletion or trisomy. These studies are also necessary to determine whether mongolism has been caused by non-disjunction or translocation, so that proper genetic counseling can be carried out in these conditions. Multifactorial conditions are determined by several genes or more commonly, by a combination of genetic and environmental factors. These conditions recur in families in a greater incidence than one would expect in the general population but do not obey the rules of Mendelian inheritance. Genetic counseling cannot be performed without an absolute diagnosis, an absolute knowledge of the patterns of inheritance and a well documented family pedigree. The basic principles of genetics covered in this article should allow the orthopedist to understand when genetic counseling is indicated for his patients.

Bone Diseases↗