Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3.

Linkage analysis has been performed on a large Australian family segregating for the autosomal dominant form of retinitis pigmentosa (ADRP). The majority of patients had no subjective symptoms of night blindness until their second decade and good visual acuity until late in life. The disease in this family has been classified as Type II ADRP according to the subdivisions provided by both Massof and Finkelstein and Fishman and colleagues.

Prospective evaluation of blind brushing of the esophagus for Candida esophagitis in patients with human immunodeficiency virus infection.

We prospectively evaluated the diagnostic value of blind brushing of the esophagus via nasogastric tube in 66 patients with human immunodeficiency virus (HIV) infection [acquired immune deficiency syndrome (AIDS) (N = 59), or AIDS-related complex (ARC), (N = 7)] complaining of odynophagia and/or dysphagia. Brushings were obtained between 20 and 35 cm from the incisors. Patients then underwent upper endoscopy with directed brushings and biopsies; esophageal lavage was also done in the first 40 patients.

Transabdominal placental biopsy in the second and third trimesters of pregnancy: what is the risk of maternal contamination in DNA diagnosis?

We investigated the risk of maternal contamination in antenatal DNA diagnosis after second- and third-trimester transabdominal placental biopsy. For this purpose, we compared the restriction fragment length polymorphism (RFLP) patterns of 11 chorionic villus DNA samples after late chorionic villus sampling (CVS) with those of the corresponding maternal DNA. Ten of 11 aspirated tissue samples were not separated from maternal contamination before DNA extraction.

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests.

Multilocus linkage analysis of 62 family pedigrees with X chromosome-linked retinitis pigmentosa (XLRP) was undertaken to determine the presence of possible multiple disease loci and to reliably estimate their map location. Multilocus homogeneity tests furnished convincing evidence for the presence of two XLRP loci, the likelihood ratio being 6.4 x 10(9):1 in favor of two versus a single XLRP locus and gave accurate estimates for their map location.

Alimentary tract cytopathology in human immunodeficiency virus infection: a review of experience in Los Angeles.

In the past decade, over 100,000 cases of the acquired immunodeficiency syndrome (AIDS) have been reported in the United States. Conservative estimates suggest that 1.5 million people are infected with the human immunodeficiency virus (HIV), the etiologic agent of AIDS.

Rapid diagnosis of Pneumocystis carinii infection in AIDS by cytocentrifugation and rapid hematoxylin-eosin staining.

Pneumocystis carinii pneumonia (PCP) is the major pulmonary complication in patients with the acquired immunodeficiency syndrome. While fiberoptic bronchoscopy with bronchoalveolar lavage (BAL) and transbronchial biopsy (TBBX) is regarded as the procedure of choice to identify PCP, these techniques, particularly TBBX, pose potential risks to the already compromised patient. To reduce the duration of bronchoscopy and, hence, lessen the chance for complications, we describe a rapid technique to identify PCP in BAL fluid by cytocentrifugation and hematoxylin-eosin staining.

In situ hybridization analysis of human papillomavirus in anal squamous cell carcinoma.

To investigate the association between human papillomavirus (HPV) infection and anal carcinoma, we applied a sensitive in situ hybridization technique to detect HPV messenger RNA (HPV m-RNA) in formalin-fixed, paraffin-embedded sections from 18 patients. Using tritium-labeled probes, HPV m-RNA was detected in 12/18 (67%) patients. HPV 6 was detected in four patients, coexisting with HPV 18 in two cases, and HPV 16 was found in eight patients.

[An at-risk pregnancy of a carrier of cystic fibrosis (mucoviscidosis) with a new partner].

The mother of a girl affected by CF was pregnant in her second marriage with a new partner. We determined the fetal risk of being affected by means of enzyme testing, segregation analysis and haplotype association.

Pneumocystis carinii infection in the acquired immune deficiency syndrome.

The acquired immune deficiency syndrome (AIDS) pandemic has focused attention on Pneumocystis carinii pneumonia (PCP). Of special significance are the following key issues. (1) PCP in the AIDS patient can be clinically different than in the non-AIDS patient.

Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease.

Monoamine oxidase A and B (MAO A and B) are the central enzymes that catalyze oxidative deamination of biogenic amines throughout the body. The regional locations of genes encoding MAO A and B on the X chromosome were determined by using full-length cDNA clones for human MAO A and B, respectively. Using somatic cell hybrids, in situ hybridization, and field-inversion gel electrophoresis as well as deletion mapping in a patient with Norrie disease, we concluded that these two genes are close to each other and to the DXS7 locus (Xp 11.

Hepatic and biliary tract abnormalities in patients with AIDS. Sonographic-pathologic correlation.

A retrospective evaluation of hepatobiliary sonograms in 22 patients with AIDS was performed and the sonographic abnormalities were correlated with pathologic findings in 10 patients. Hepatic parenchymal abnormalities noted on ultrasound include a hyperechoic parenchymal echo pattern in 45.5%, hepatomegaly in 41%, and focal masses in 9% of patients.

Leiomyomatous neoplasms of the lung: a clinical, histologic, and immunohistochemical study.

A series of 12 pulmonary lesions initially diagnosed as leiomyomatous in origin were reviewed. The original slides were analyzed for a series of histological features, the patients' charts were reviewed for clinical presentation and follow-up, and the usefulness of immunohistochemistry was assessed. Three groups were noted after analysis.

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp.

Congenital stationary night blindness is characterized disturbed or absent night vision that is always present at or shortly after birth and nonprogressive. The X-linked form of the disease (CSNBX; McKusick catalog no. 31050) differs from the autosomal types in that the former is frequently associated with myopia.

Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.

Autosomal dominant polycystic kidney disease (ADPKD) usually becomes symptomatic between the third and fifth decades. We studied ten families segregating for ADPKD in which children were observed with typical manifestations of the disease at birth or in early childhood. In these families, linkage analysis was carried out with a cloned DNA sequence from the alpha-globin locus known to be closely linked to the disease gene in adult onset ADPKD.

A review of pulmonary cytopathology in the acquired immunodeficiency syndrome.

Over the past 6 yr, we have observed an increase in cytologic specimens from the respiratory tract in patients suspected or known to have AIDS, from 7 of 81,031 cases in 1982 to 1,231 of 55,333 in 1987. Based on our experience with 1,140 patients, this article reviews the technical and morphologic evaluation of pulmonary cytologic specimens from AIDS patients.

[Norrie syndrome: identification of carriers by segregation analysis with flanking DNA markers].

Norrie disease is an X-linked recessive disorder. Affected males present with congenital blindness. Additionally, hearing loss and psychotic behavior may occur at any time.

Gene diagnosis in X-linked ichthyosis.

Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes. Patients in the third family showed the same hybridization pattern as healthy males following molecular hybridization with either of the probes.

Norrie disease as part of a complex syndrome explained by a submicroscopic deletion of the X chromosome.

A 15-year-old male patient with the typical ocular symptoms of Norrie disease is described. Additionally, he presents severe mental retardation, growth disturbances, hypogonadism, and increased susceptibility to infections. This complex syndrome is apparently segregating through three generations: four other male relatives of the patient were blind from birth and died from recurrent infections between the ages of three to 15 months.

Magnetic resonance imaging in the diagnosis of aggressive villonodular synovitis.

An aggressive and recurrent pigmented villonodular synovitis of the knee occurred in a 47-year-old man. Magnetic resonance imaging was an excellent noninvasive diagnostic aid that completely outlined the extent of the synovitis and correlated well with surgical findings.

Linkage analysis in X-linked ichthyosis (steroid sulfatase deficiency).

Linkage analysis has been carried out in nine unrelated families segregating for X-linked ichthyosis (steroid sulfatase deficiency) using seven polymorphic DNA markers from the distal Xp. Close linkage was found between the disease locus and the loci DXS16, DXS89, and DXS143. In all families except one, Southern hybridization with the human steroid sulfatase cDNA and GMGX9 probes showed a deletion of corresponding loci in affected males.

Prenatal exclusion of Norrie disease with flanking DNA markers.

Three polymorphic DNA markers linked to the locus of Norrie disease were used for indirect genotype analysis in a ten-wk-old fetus at risk for the disease. When haplotypes of the family members and the estimated recombination frequency between Norrie gene and each of the DNA marker loci DXS7, DXS84, and DXS146 were taken into account, the risk that the fetus had inherited the mutation was about 1%.

Albumin and alpha-fetoprotein gene expression in various nonhepatic rat tissues.

Albumin and alpha-fetoprotein (AFP), two major serum proteins, are synthesized predominantly in the liver and yolk sac of mammals. In the present paper we report on the developmental expression of the corresponding genes in nonhepatic rat tissues. Significant quantities of mature albumin and AFP mRNAs were revealed in kidney, pancreas, heart, and lung of fetal and/or newborn rats using dot blot and Northern blot assays.