Localization of the gene for familial laryngeal abductor paralysis to chromosome 6q16.

BACKGROUND: Vocal fold paralysis is a common cause of neonatal stridor. Although it is usually classified as idiopathic or iatrogenic in origin, a small subset of patients have a family history of this disorder, indicating a possible genetic cause. OBJECTIVE: To identify the genetic locus of the gene that causes familial laryngeal abductor paralysis. DESIGN: A standard nonorganic protocol was used to extract DNA from whole-blood samples. The DNA samples were quantified by DNA fluorometry, and the concentration of all samples was standardized at 40 ng/microL. A pooled DNA strategy was used to facilitate rapid polymerase chain reaction screening of markers in the Weber v8.0 genome screening set. Polymerase chain reaction screening of individual DNA samples was performed using possible linked markers initially identified as having an allele that appeared with a higher incidence in the affected DNA pools. Statistical analysis of possible linkage was performed using the LINKAGE 5.1 set of linkage analysis computer programs. SUBJECTS: A family in which a form of familial laryngeal abductor paralysis segregates was ascertained. Whole blood samples were drawn from 40 participating individuals within this family after the subjects' fully informed consent was obtained. RESULTS: Initial screening of the pooled DNA specimens revealed a band pattern for D6S1021 on chromosome 6q16, indicating an allele with a higher incidence in the affected vs the nonaffected pool. Two-point analysis of individual allele patterns confirmed linkage to D6S1021 with an lod score of 3.86 (straight theta = 0.0) at a penetrance value of 0.8. Haplotype analysis with flanking markers defined a 5-centiray critical region between D6S283 and AFMA047YG1. CONCLUSION: An autosomal dominant form of familial laryngeal abductor paralysis is linked to a 5-centiray region on chromosome 6q16 surrounding D6S1021.

Predictors of homicidal ideation and intent in schizophrenia: an empirical study.

Correlations of age, gender, and psychosocial variables with ratings of current homicidal ideation and intent were investigated among psychiatric facility clients with schizophrenia. Multiple regression analyses revealed, irrespective of age or gender, significantly positive correlations of three psychosocial variables--manic symptoms, psychotic symptoms, and impaired global functioning--with homicidal ideation and intent. Implications for research are discussed.

Age-related mitochondrial DNA mutations in the human larynx.

OBJECTIVE: To determine whether age-related mitochondrial DNA mutations occur in the human larynx. STUDY DESIGN: Genetic study of cadaveric larynx specimens. METHODS: Vocal fold mucosa, thyroarytenoid muscle, and cricoarytenoidjoint tissue were harvested from 13 fresh postmortem larynges (age range, 2 d-82 y). DNA was extracted from each sample, and the polymerase chain reaction (PCR) was used to amplify a target DNA sequence resulting from the common age-associated, 4977-base-pair (bp) mitochondrial DNA deletion. PCR products were visualized by agarose gel electrophoresis. Automated sequencing determined the sequence of identified PCR products. SUBJECTS: Thirteen cadaveric larynges were obtained through the University of Kentucky Medical Center (Lexington, KY). Specimens from patients with a history of head and neck cancer, previous laryngeal trauma, or surgery were excluded. RESULTS: Strongly positive bands were identified in samples from three individuals. Weaker bands were seen in samples from four other samples. No band was noted from the two pediatric larynges. Different band patterns were seen among the three different tissue sites in the larynges with positive PCR products, but no consistent pattern was seen. Sequencing of the identified PCR products from selected samples confirmed that they were products of the age-associated, 4977-bp mitochondrial DNA deletion. CONCLUSIONS: An age-associated mitochondrial DNA deletion was detected in several post-mortem human larynges. Its presence seemed to increase in appearance with age. In the larynges in which the deletion occurred, there were individual regional differences in the occurrence of the deletion, but no consistent pattern was noted across all individuals who carried the deletion.

Critique of recent empirical research on insight and symptomatology in schizophrenia.

During the past decade there has been a resurgence of interest in investigating the relationship between insight and symptomatology among clients with schizophrenia. The breadth and depth of the articles have dramatically increased over the past 10 years, including the number of empirical research studies. This article summarizes the strengths and limitations of the empirical research focused on the association between insight and severity of psychotic symptoms and published between 1990 and 1999.

[Endoparasite infection in stray and abandoned dogs in southern Switzerland]. / Endoparasitenbefall bei Findel- und Verzicht-Hunden in der Südschweiz.

At their entry into the animal domicile, "La Stampa", in Lugano (canton Tessin), 217 stray dogs and 154 unwanted dogs were examined for infections with intestinal parasites, filariae, Babesia and Leishmania. The following techniques were used for detection of intestinal parasites: combined sedimentation-flotation, MIFC technique and scotch tape adherence test. Prevalences of helminth egg excretion in stray dogs and in unwanted dogs, respectively, were as follows: 34% and 22% for Trichuris, 17% and 14% for Toxocara, 3% and 5% for hookworms, 4% and 0% for taeniids. Dipylidium, Toxascaris and Capillaria were diagnosed sporadically. Samples positive for taeniids were further tested for the presence of Echinococcus coproantigens in a sandwich ELISA: one of 9 dogs was strongly positive. This dog was euthanized for security reasons and upon dissection, 11 Taenia hydatigena and more than 10,000 gravid Echinococcus granulosus worms were found. Microfilariae were detected in the blood of 3 stray dogs and one unwanted dog by the Difil-test. In all 4 cases the infective species was Dirofilaria immitis as confirmed by morphology, acid phosphatase activity analysis of microfilariae and by detection of specific antigens in blood plasma by ELISA. Specific antibodies against antigen of Leishmania infantum could not be detected in any of these dogs by ELISA. However, 3 stray dogs had specific antibodies against antigen of Babesia canis as demonstrated by IFAT.

Detection of Echinococcus coproantigens in stray dogs of northern Spain.

An enzyme-linked immunosorbent assay (ELISA) was assessed for its suitability to diagnostically detect Echinococcus coproantigens in fecal samples of dogs infected with E. granulosus. The specificity of the test was determined by investigating fecal samples from 177 Echinococcus-free dogs infected with Taenia spp., 41 dogs with non-taeniid helminths and 24 dogs free of helminth infections. An overall specificity of 97% was determined. The diagnostic sensitivity was in close association to the worm burden of infected individuals: when dogs harboured less than 100 worms, six from 21 samples (29%) were found to be positive in coproantigen ELISA, whereas sensitivity was much higher (23 ELISA-positive from 25 samples = 92%) when dogs had more than 100 worms. Despite the relatively low average sensitivity (63%), the test enabled detection of more than 90% of the biomass of adult Echinococcus present in the respective dog populations. Conclusively, coproantigen detection allows diagnosis of most individual intestinal Echinococcus infections relevant for the egg contamination of the environment and is therefore a valuable tool to determine the relative prevalence of adult stage E. granulosus prevalence in a given endemic area.

[Parasitological and immunological progress control during and after chemotherapy of canine leishmaniasis]. / Parasitologische und immunologische Verlaufskontrollen Während und nach Chemotherapie der Leishmaniose des Hundes.

Promastigote Leishmania-organisms were diagnostically cultivated in vitro from popliteal lymph node aspirates obtained from 32 of in total 36 dogs returning from endemic areas. Isoenzyme analysis (glucosephosphate-isomerase (GPI), phosphoglucomutase (PGM) and glutamate-oxaloacetate-transaminase (GOT) resulted in the identification of Leishmania infantum (syn. Leishmania (L.) infantum) for all 18 isolates investigated. Parasites were still able to be cultivated in vitro in 79% of 28 biopsies (from 15 dogs) even following chemotherapy by Glucantime, independent of the time of sampling and the course of disease after treatment. Dogs with a progressive form of disease (despite chemotherapy) showed only a minor or no reduction (between 0 and 4.8%) of the relative antibody concentration (determined by ELISA), whereas regressive forms of disease (without recurrences observed in the period of 10 to 37 months after therapy) demonstrated a marked reduction of the relative antibody concentration (between 6.7 and 16.2%) within the first 5 to 8 months; thereafter the decrease diminished and changed to a persistent low relative antibody concentration.

An outbreak of furunculosis among high school athletes.

Furuncles (boils) are common among teenagers; however, few outbreaks have been documented. We investigated an outbreak of furuncles that occurred among male athletes of a Kentucky high school during the 1986 to 1987 school year. The overall attack rate was 25% (31/124). The risk of developing a furuncle increased two to three times in those who had skin injury. Athletes who sustained abrasions more than twice per week (P less than 0.01), who had a cut that required bandaging (P = 0.01), or had an unspecified injury causing a missed practice or game (P = 0.04) were at increased risk. The risk of developing furunculosis did not appear to be related to contact with formites, but rather, to contact with furuncles. Although athletes shared common areas (showers, locker rooms, practice areas, the attack rates for varsity football (36%) and varsity basketball (33%) were four times greater than for nonvarsity teams (P less than 0.01). Players who had a friend with a furuncle were more than twice as likely to also have had a furuncle (P less than 0.01). Exposure to furuncles appeared to increase the risk of furunculosis independently of reported skin injury. Control and prevention should, therefore, focus on both reducing skin injury and reducing exposure to furuncles, rather than attempting to sterilize inanimate objects.

Infant death rates among the poor and nonpoor in Kentucky, 1982 to 1983.

The mortality rates of infants born in Kentucky during 1982 and 1983 were analyzed to determine whether there were differences between poor and nonpoor infants. We used computer matching with the Social Insurance Food Stamp files and with the Aid for Families With Dependent Children files to define poor and nonpoor Kentucky resident families. The crude death rate for poor infants was 13.7/1,000 births, and the nonpoor death rate was 10.8/1,000 births. After adjusting for several important variables, we found that the poor infant was at a significantly greater risk for death than the nonpoor infant but only during the postneonatal period (relative risk 2.04, P = .0003). Some differences by sex and race were noted. Sudden infant death syndrome and infections were largely responsible for the poor infants' higher postneonatal mortality risk.

Benefit-cost analysis of active surveillance of primary care physicians for hepatitis A.

We identified two random samples of 216 primary care physicians each. In one sample, we made weekly telephone contact for active hepatitis A (HA) surveillance; in the other, we made no such contact (passive surveillance). Appropriate county health departments were notified whenever we identified a HA case by active surveillance. Active surveillance was associated with a 2.8-fold increase in reported HA cases compared to passive surveillance. The estimated benefit: cost ratio active/passive surveillance was 2.5:1.

A waterborne outbreak of hepatitis A in Meade County, Kentucky.

In November 1982, Meade County, Kentucky health officials noted a sudden increase in the incidence of hepatitis A. Using a standardized interview of 73 cases (68 serologically confirmed), and 85 controls (all negative for antibody to hepatitis A virus), the most important risk factor identified was household use of untreated water from a single spring. A dose-response relationship was found for consumption of unboiled spring water. Water samples taken from the spring during the outbreak were contaminated with fecal coliforms.

Site-specific cancer mortality trends among Kentucky residents: comparison of 1971 to 1975 with 1976 to 1980.

We compared the average annual age-adjusted, sex- and site-specific cancer mortality rates among Kentuckians during two five-year time periods: 1971 to 1975 and 1976 to 1980. Lung cancer alone showed a statistically significant increase in mortality rates for both sexes, but significant increases were also found for skin cancer and leukemias among men and for pancreatic cancer and lymphomas among women. Significant decreases in mortality rates were observed for cancer of the rectum and stomach in both sexes, lymphomas among men, and leukemias and liver and uterine (corpus and cervix) cancer among women. Increased lung cancer mortality rates occurred for all age groups of women aged 35 and over, but in men, decreased lung cancer mortality rates were observed for ages 35 to 49 and increased rates only after age 50. All age groups of women experienced substantial declines in cervical cancer mortality rates. Without the dramatic increase in lung cancer mortality during this period, overall cancer mortality rates would have shown almost no change among Kentucky men and would have decreased among Kentucky women.