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Biomedical subjects

O J Hood

Publications and source records attributed to O J Hood.

8 recordsLinked to original sources
PubMed1992

Growth hormone therapy in achondroplasia.

A pilot study was carried out to examine the safety and efficacy of recombinant human growth hormone for growth-promoting therapy of achondroplasia. The data suggest that the agent in doses used to treat non-GH-deficient forms of short stature (0.3 mg/kg/wk) modestly increases overall height velocity in some children with achondroplasia. The effect was seen mainly in children with the lowest growth velocities prior to treatment. No untoward effects were noted. Several questions were raised that require further study.

Achondroplasia↗
PubMed1990

Multiple congenital anomalies associated with a 47,XXX chromosome constitution.

An infant with a 47,XXX chromosome constitution, who died shortly after birth, had laryngeal atresia, pulmonary hypoplasia, craniofacial anomalies, urogenital malformations including unilateral renal agenesis, hydrometrocolpos and ovarian dysgenesis, and mildly abnormal endochondral ossification. Implications for genetic counseling are presented.

Abnormalities, Multiple↗
PubMed1988

Obesity in achondroplasia.

Obesity is a significant and potentially serious health problem in achondroplasia. Body mass indices, weight-to-square of the height ratio (W/H2), and triceps skinfold measurements show that obesity is common. It begins in early childhood and is prevalent at all ages. We recommend that weight be monitored closely in all persons with achondroplasia and that dietary intervention be instituted whenever the body mass indices, W/H2, and triceps skinfold measurements exceed the 95th centile for the general population.

Achondroplasia↗
PubMed1988

Abnormal ossification in thanatophoric dysplasia.

Thanatophoric dysplasia (TD) is a lethal human bone dysplasia characterized by severe dwarfism. It pathogenesis is thought to involve an abnormal ossifying fibrous tissue that disrupts the skeletal growth plate. We employed a combined morphologic, immunohistochemical and biochemical approach to better define the nature of this tissue in growth plate cartilage from 15 TD fetuses and infants in whom the abnormality was observed. The tissue was organized into tufts comprised of a cap of interstitial connective tissue, a transition region containing preosteoblastic cells near the cap and osteoblastic cells near the base, and a mineralized base which formed the subchondral bone trabeculae. The morphology of the cells and the presence of type I collagen in all regions of the tufts suggested that they were foci of membraneous ossification. However, elements of cartilage matrix (type II collagen, proteoglycan, link protein) were identified in the pericellular matrix of the osteoblastic cells and adjacent osteocytic cells. These observations suggest that a peculiar form of ossification occurs in the TD growth plate and may be involved in the pathogenesis of the disorder.

Collagen↗
PubMed1986

Proximal duplications of chromosome 15: clinical dilemmas.

The apparently rare cytogenetic abnormality of partial trisomy 15 was diagnosed by the authors in a patient presenting with developmental retardation, macrocephaly with ventricular enlargement and prominent subarachnoid spaces, hypotonia, low-set ears, hyperextensible wrists and hands, high arched palate, tapering fingers, right esotropia, and bilateral metatarsus adductus. Clinical findings in this case are similar to previously reported cases of proximal duplications of chromosome 15 and bear some similarity to the Prader-Willi syndrome. However, our patient did not have the severe hypotonia, early failure to thrive, or genital abnormalities seen in classical Prader-Willi syndrome. This case supports the theory that a variety of cytogenetic aberrations in proximal 15q can cause a "Prader-Willi-like" syndrome. Increased clinical suspicion is needed when patients are seen with hypotonia, retarded development and mild dysmorphism if the variety of phenotypes are to be delineated.

Abnormalities, Multiple↗
PubMed1985

Unbalanced translocation (15;17)(q13;13.3) with apparent Prader-Willi syndrome but without Miller-Dieker syndrome.

We studied after death a 3-month-old girl whose karyotype was 45,XX,-15,-17,+der(17),t(15;17)(q13;p13.3) and thus combines abnormalities of chromosome 15 associated with the Prader-Willi syndrome and of chromosome 17 associated with the Miller-Dieker syndrome. This infant had several manifestations of the Prader-Willi syndrome in infancy but none of the Miller-Dieker syndrome. We propose that essentially no loss of 17p material has occurred and confirm previous reports that the critical region for the production of the Miller-Dieker phenotype is located subterminally in the 17p13.3 region.

Brain↗
PubMed1982

Tics and tremors.

Tics are the most common movement disorder of childhood. The single tic, or habit spasm, is benign and self-limited. Complex tic disorders include other features such a multiple tics, vocal tics, and complex stereotyped movements. Tourette syndrome represents the most-severe end of a spectrum of tic disorders. The basic features are multiple tics and vocalizations with a changing repertoire over time. Severity waxes and wanes spontaneously. Treatment with haloperidol is effective but associated with a high incidence of side effects. Some cases undergo remission in late adolescence. There is a strong genetic component. Sympathomimetic drugs may precipitate the syndrome. Tremors are less common in children. Essential tremor is a benign but troublesome condition which frequently is familial. Treatment with propranolol is effective. The majority of tremors in the pediatric age group are due to underlying metabolic, endocrine, or heredodegenerative disorders. Treatment is that of the underlying biochemical abnormality.

Adolescent↗