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Biomedical subjects

J B Bateman

Publications and source records attributed to J B Bateman.

12 recordsLinked to original sources
PubMed1992

Localisation of the gene for Norrie disease to between DXS7 and DXS426 on Xp.

A highly informative microsatellite marker, DXS426, which maps proximal to DXS7 in the interval Xp11.4-Xp11.23, has been used to refine further the localisation of the gene for Norrie disease (NDP). The results from a multiply informative crossover localize the NDP gene proximal to DXS7. In conjunction with information from 2 NDP patients who have a deletion for DXS7 but not for DSX426, our data indicate that the NDP gene lies between DXS7 and DXS426 on proximal Xp.

Base Sequence↗
PubMed1992

Assignment of the beta-subunit of rod photoreceptor cGMP phosphodiesterase gene PDEB (homolog of the mouse rd gene) to human chromosome 4p16.

The gene encoding the beta-subunit of rod photoreceptor cGMP phosphodiesterase (gene symbol PDEB, homolog of the mouse rd gene) is mapped to human chromosome 4 using somatic cell hybrids and further localized to the chromosome band 4p16 using in situ hybridization. A mutation in the mouse gene underlies the recessive trait of retinal degeneration in the rd mouse. Thus, the human homolog is a candidate for lesions causing retinal degeneration.

3',5'-Cyclic-GMP Phosphodiesterases↗
PubMed1992

Affected females in X-linked congenital stationary night blindness.

Most heterozygous (carrier) females in families with X-linked congenital stationary night blindness are asymptomatic. Several anecdotal cases of manifesting females in X-linked congenital stationary night blindness have been reported, but few clinical details are available. The authors report clinical, electroretinographic, and dark adaptation studies of four affected females from a five-generation family with X-linked congenital stationary night blindness. Each of the manifesting females was the daughter of a different, asymptomatic, carrier mother. None of the 14 daughters of the 9 affected males showed signs or symptoms of congenital stationary night blindness. Uneven X-chromosomal lyonization is the most likely reason for these females manifesting this X-linked disorder.

Adolescent↗
PubMed1992

Dielectric properties of the system bovine albumin: urea: betaine in aqueous solution.

Urea (about 5 mol l-1) causes an approximately five-fold increase of the dielectric increment of bovine serum albumin at 20 degrees C. The increase is reversed by betaine (about 2.5 mol l-1), or prevented if urea and betaine are added together. This result can be seen as an electric counterpart to the protective role of osmolytes which are secreted by cells and tissues subjected to various types of internal or environmental stress.

Betaine↗
PubMed1991

Molecular genetics of retinitis pigmentosa.

Retinitis pigmentosa is a model for the study of genetic diseases. Its genetic heterogeneity is reflected in the different forms of inheritance (autosomal dominant, autosomal recessive, or X-linked) and, in a few families, in the presence of mutations in the visual pigment rhodopsin. Clinical and molecular genetic studies of these disorders are discussed. Animal models of retinal degeneration have been investigated for many years with the hope of gaining insight into the cause of photoreceptor cell death. Recently, the genes responsible for two of these animal disorders, the rds and rd mouse genes, have been isolated and characterized. The retinal degeneration of the rd mouse is presented in detail. The possible involvement of human analogues of these mouse genes in human retinal diseases is being investigated.

Animals↗
PubMed1979

Meningococcal conjunctivitis.

Meningococcal conjunctivitis is typically described as an acute purulent infection. An atypical case of mild catarrhal conjunctivitis occurred in a 19-year-old college student. The meningococci were identified as Neisseria meningitidis, group A, and were isolated from the throats of the patient and her roommate. The conjunctivitis responded rapidly to treatment with sodium sulfacetamide, and it was not treated systemically. A short review of the literature of meningococcal conjunctivitis is presented, and the current recommendation for prophylaxis is discussed.

Administration, Topical↗
PubMed1979

Coronal adenomas.

The incidence and morphologic features of coronal adenomas, benign epithelial tumors of the ciliary processes, were studied in 500 autopsy cases. Macroscopically, coronal adenomas are white, globular, often cystic in appearance, of limited growth potential, and found only on the ciliary processes. Microscopically, they contain convoluted sheets or tubes of nonpigmented epithelium, between which are found varying amounts of amorphous eosinophilic, PAS-positive, extracellular material. Coronal adenomas were present in 153 (31%) of 500 cases, were bilateral in 23 (15%), and were thus present in 176 (18%) of the 1,000 eyes examined. Two clinically important complications of coronal adenomas were found, sectoral cataracts and misdiagnosis as iris tumor.

Adenoma↗
PubMedDate not supplied

Oculocutaneous albinism: variable expressivity of nystagmus in a sibship.

Traditionally, the diagnosis of ocular or oculocutaneous albinism (OCA) is based on a constellation of features including the presence of nystagmus associated with iris transillumination defects, hypopigmentation of the fundus, and hypoplasia of the fovea and optic nerve head. Nystagmus is the most frequent ocular sign for the ascertainment of albinism particularly in individuals who have lightly-pigmented parents. We report two siblings, a male and female, with minimal, if any, pigmentation of skin and hair, iris transillumination defects, blond fundi, and hypoplasia of the foveae and optic nerve heads who were discordant for nystagmus; the diagnosis of OCA was based on the clinical findings. These siblings presumably have the same genetic hypopigmentation defect and demonstrate that nystagmus is not a consistent finding in OCA and may not be an absolute criterion for diagnosis.

Albinism↗