Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity

Human Molecular Genetics (2006) 15, 921–931;     

What is in a cause? Exploring the relationship between genetic cause and felt stigma

PURPOSE: Concern over stigma as a consequence of genetic testing has grown in response to the recent increase in genetic research and testing resulting from the Human Genome Project. However, whether a genetic or hereditary basis necessarily confers a stigma to a condition remains unexamined. METHODS: We performed a qualitative interview study with 86 individuals with one of four conditions: deafness or hearing loss, breast cancer, sickle cell disease, and cystic fibrosis. The first two groups were divided approximately between people who ascribed their conditions to a genetic or hereditary cause and those who did not. RESULTS: Respondents interpreted genetic or hereditary causes and nongenetic causes in a variety of ways. Subjects with breast cancer reported the most consistently negative interpretation of genetic cause. This response concerned future ill health, not an enduring sense of stigma. Deaf and hard of hearing subjects provided the most consistently positive comments about a genetic or hereditary basis to their condition, casting familial hearing loss as a vital component of group and individual identity. Respondents with sickle cell disease and cystic fibrosis offered similar and positive interpretations of the genetic cause of their condition insofar as it meant their conditions were not contagious. CONCLUSIONS: Although some subjects report feeling stigmatized as a result of their condition, this stigmatization is not uniformly associated with the condition's cause, genetic or otherwise. Instead, stigma emerges from a variety of sources in the context of the lived experience of a particular condition.     

Incidence rates of acute promyelocytic leukemia among Hispanics, blacks, Asians, and non-Hispanic whites in the United States.

Despite significant improvements in the prognosis of acute promyelocytic leukemia brought about by therapeutic advances, understanding of the epidemiology of acute promyelocytic leukemia remains limited. Earlier reports have suggested that Hispanics may have an increased incidence of acute promyelocytic leukemia, but no systematic analysis of national data has yet been reported. We performed a retrospective cohort study, using data from the Surveillance, Epidemiology, and End Results (SEER) Program of the National Cancer Institute from 1992-2001 in order to compare leukemia incidence rates as a function of race and ethnicity. We identified 709 cases of acute promyelocytic leukemia and analyzed incidence rates by race and sex. Hispanics were not found to have greater lifetime incidence rates than whites, with an incidence relative rate (IRR) of 0.86 that of whites (P=0.17). The age distribution among Hispanics was significantly different from non-Hispanic whites, with greater incidence rates for children ages 1-19 years (IRR=1.9, P=0.02) and adult ages 20-44 years (IRR=1.6, P=0.004). Blacks had lower lifetime incidence rates than non-Hispanic whites (IRR=0.75, P=0.04), Hispanics (IRR=0.64, P=0.007), and Asians (IRR=0.67, P=0.03). Asians did not differ from non-Hispanic whites in lifetime or age-specific incidence rates. These results indicate that while US Hispanics do not have greater lifetime incidence rates of acute promyelocytic leukemia, blacks have lower incidence rates of acute promyelocytic leukemia than Hispanics, non-Hispanic whites, and Asians.     

Die klassifikatorische und pr?diktive Qualit?t des Merkmals “suicide intent” bei Parasuiziden Eine clusteranalytische Untersuchung Eine clusteranalytische Untersuchung

In einer clusteranalytischen Untersuchung mit 137 Patienten, die einen Parasuizid verübt hatten, wurden 6 Subgruppen unter Berücksichtigung der Klassifikationsvariable “suicide intent” isoliert. Es wurde die Hypothese geprüft, dass sich sowohl die Motivstrukturen als auch die Raten an wiederholten Parasuiziden in Abh?ngigkeit der Clusterl?sung bedeutsam voneinander unterscheiden. Die Ergebnisse unterstützen die Annahme einer zunehmenden Ausdifferenzierung der interpersonell orientierten Motivstrukturen mit sinkendem bzw. einer Einengung der Motivstruktur auf den Todeswunsch mit steigendem “suicide intent”. Es wurden folgende Subgruppen differenziert: eine Suizid-Hochrisikogruppe mit ausschlie?licher Todesintention und -motivation, 2 moderate Suizid-Risikogruppen mit hoher Todesintention und leichten Tendenzen zu interpersoneller Motivation, eine Subgruppe, gekennzeichnet durch eine manipulativ/strategisch orientierte Motivstruktur und auff?llig h?ufigen Parasuizidwiederholungen, eine Subgruppe mit vorrangig appellativ orientierten Motiven, Kontrollverlust und vergleichsweise seltenen Parasuizidwiederholungen und eine Subgruppe mit ambivalenter Motivstruktur (interpersonell und todesorientiert).     

Freezing of gait in postmortem-confirmed atypical parkinsonism.

The frequency and pathophysiology of freezing of gait (FoG) in atypical parkinsonism is unknown. We analysed the frequency of FoG in postmortem-confirmed atypical parkinsonian disorders (APD) comprising corticobasal degeneration (CBD), dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP). Sixty-six patients with pathologically confirmed APD (CBD, n = 13; DLB, n = 14; MSA, n = 15; PSP, n = 24) formed the basis for a multicenter clinicopathological study. Clinical features at first and last clinical visit were abstracted from patient records on standardized forms following strict instructions. At the first visit (median 36 months after symptom onset), 24% of APD had FoG (CBD, 8%; DLB, 21%; PSP, 25%; MSA, 40%). Logistic regression analysis showed a significant association of FoG and urinary incontinence (P = 0.04) at first visit. At last visit, 47% of APD had FoG (CBD, 25%; PSP, 53%; DLB, 54%; MSA, 54%). Clinicopathological correlation based on routine postmortem examination failed to identify a consistent neuropathological substrate of FoG. This study demonstrates that (1) FoG is common in APD, and (2) urinary incontinence is significantly associated with FoG in these disorders. Whether FoG and urinary incontinence share similar neuropathological substrates remains to be determined by future studies.     

Isolated penile burns: a plea for early excision

We report our experience of eight cases of isolated full thickness burns of the penis. Early excision of burns of the penile shaft and repair with a preputial flap or mesh split skin graft produces excellent results, with a reduction in complications and an early re-establishment of sexual function. Conservative treatment of burns of the glans, on the other hand, is appropriate and results in minimal scarring.     

Prevalence of Candida tropicalis in clinical specimens from patients with variable clinical syndromes over a 5-year period

Summary. In this study, we have examined our records for the isolation of Candida tropicalis from clinical specimens of patients with heterogeneous clinical presentations during the past 5 years. We have found that this species ranks third among all yeasts in frequency of isolation from clinical specimens and that the trend of recovery from the specimens is rising over the years. The isolation rate of C. tropicalis was highest from urine specimens (36%) followed by respiratory specimens (22%). The frequency of isolation of C. tropicalis from vaginal specimens was relatively high (14%), however the trend was declining over the years. In general, the high recovery of Candida tropicalis from clinical specimens of patients with variable disease supports the views of this organism being a major pathogen.
Zusammenfassung. Die Studie basiert auf einer Durchsicht der Patientenarchive der letzten fünf Jahre auf die Isolationshäufigkeit von Candida tropicalis aus klinischen Untersuchungsmaterialien von Patienten mit unterschiedlichen klinischen Krankheitsbildern. Diese Hefeart war die dritthäufigste mit steigender Tendenz über die Jahre. Die Isolierungsrate von C. tropicalis war am höchsten aus Urin (36%), gefolgt von Respirationstrakt-Materialien (22%). Die Isolationshäufigkeit aus dem hinteren Scheidengewölbe war relativ hoch (14%), nahm jedoch mit den jahren ab. Allgemein unterstreicht die hohe Isolationsrate von C. tropicalis aus klinischen Untersuchungsmaterialien die ätiologische Bedeutung dieses Erregers.