Pure seminoma in the setting of androgen insensitivity syndrome treated with surgical resection and para-aortic radiation: a case report and review of literature

Complete androgen insensitivity is a rare X-linked disorder characterized by a female phenotype in a chromosomally male individual. Malignant transformation of the un-descended testis is a rare phenomena compared to other inter-sex syndromes. This is a case of a 32-year-old female who was diagnosed with androgen insensitivity and presented to the emergency room with pelvic pain. Later the pelvic pain was found to be due to testicular masses, one of which was pure seminoma. We reviewed the literature emphasizing the biochemical and endocrinologic abnormalities leading to the syndrome, as well as the potential for malignant changes of the un-descended testes, diagnosis, and therapeutic management. We discuss the importance of early diagnosis and the consequence associated with misdiagnosis.     

Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22

Predisposition to psoriasis is known to be affected by genetic variation in HLA-C, IL12B, and IL23R, and although other psoriasis-associated variants have been identified, incontrovertible statistical evidence for these markers has not yet been obtained. To help resolve this issue, we tested 15 single-nucleotide polymorphisms (SNPs) from 7 putative psoriasis-risk genes in 1,448 psoriasis patients and 1,385 control subjects; 3 SNPs, rs597980 in ADAM33, rs6908425 in CDKAL1 and rs3789604 in PTPN22, were significant with the same risk allele as in prior reports (one-sided P<0.05, false discovery rate<0.15). These three markers were tested in a fourth sample set (599 cases and 299 controls); one marker, rs597980, replicated (one-sided P<0.05) and the other two had odds ratios with the same directionality as in the original sample sets. Mantel-Haenszel meta-analyses of all available case-control data, including those published by other groups, showed that these three markers were highly significant (rs597980: P=0.0057 (2,025 cases and 1,597 controls), rs6908425: P=1.57 x 10(-5) (3,206 cases and 4,529 controls), and rs3789604: P=3.45 x 10(-5) (2,823 cases and 4,066 controls)). These data increase the likelihood that ADAM33, CDKAL1, and PTPN22 are true psoriasis-risk genes.     

Chemotaxis of Pseudomonas sp. to caffeine and related methylxanthines

Pseudomonas sp. isolated from soil of coffee plantation area has been shown to degrade higher concentrations of caffeine ( approximately 15 g l(-1)) by N-demethylation at a rate higher than what has been reported for any strain so far. This strain exhibits positive chemotaxis towards caffeine (1,3,7-trimethylxanthine) in swarm plate assay and modified capillary assay in a dose dependant manner. Related methylxanthines and xanthine also act as chemoattractants for the strain with the highest relative chemotactic response (RCR) seen for xanthine. Chemotaxis in Pseudomonas sp. is possibly plasmid mediated as indicated by positive chemotaxis of plasmid transformed E. coli DH5alpha. The chemotactic abilities of Pseudomonas sp. combined with higher rates of degradation of caffeine can be used in the development of strategies for biodecaffeination of caffeine containing wastes.     

Subnormal head circumference in very low birth weight children: neonatal correlates and school-age consequences

BACKGROUND: Subnormal head circumference (HC) has been associated with poor neurologic and developmental outcomes. AIM: To examine the correlates and consequences of subnormal HC in a cohort of school age, very low birth weight (VLBW, <1,500 g) children. STUDY DESIGN AND OUTCOME MEASURES: We examined developmental outcomes at a mean age of 6.8 years in a cohort of 128 VLBW children born from 1982-1986 and 58 normal birth weight controls. The VLBW cohort included a regional sample of <750 g birth weight children and matched children with 750-1,499 g birth weight. Outcomes included an IQ equivalent, neuropsychological skills, academic achievement, adaptive behavior, and attention problems. HC was defined along a continuum and as subnormal vs. normal. Linear and logistic regressions were employed to determine the effects of HC on the outcomes after controlling for confounding variables. RESULTS: Thirty one VLBW children (24%) had subnormal HC vs. none of the controls. The VLBW children with subnormal HC differed significantly from the normal HC group in birth weight (748 g vs. 977 g, p<.001), SGA status (52% vs. 27%, p<.05), high neonatal risk (57% vs. 29%, p<.05), and neurosensory impairment (23% vs. 8%, p<.05). Even after taking these risk factors into account, subnormal HC was associated with poorer IQ equivalent, perceptual motor skills, academic achievement, and adaptive behavior. Results were similar after excluding the children with neurosensory impairment. CONCLUSIONS: Subnormal HC is associated with adverse developmental outcomes in VLBW children, independent of other risk factors. Interventions to improve antenatal and postnatal growth may contribute to better school-age outcomes.     

Infectious occupational exposures in dermatology--a review of risks and prevention measures. II. The pregnant dermatologist

The number of women of childbearing age (i.e. physicians, registered nurses, physician assistants, nurse practitioners, and medical assistants) working in the field of dermatology is increasing steadily. In part II of our review of the occupational infectious risks in dermatology, we address the special concerns for pregnant health care workers.     

Germ-line transgenesis of the Tc1/mariner superfamily transposon Minos in Ciona intestinalis

The tadpole larva of the basal chordate Ciona intestinalis has the most simplified, basic body-plan of chordates. Because it has a compact genome with a complete draft sequence, a large quantity of EST/cDNA information, and a short generation time, Ciona is a suitable model for future genetics. We establish here a transgenic technique in Ciona that uses the Tc1/mariner superfamily transposon Minos. Minos was integrated efficiently into the genome of germ cells and transmitted stably to subsequent generations. In addition, an enhancer-trap line was obtained. This is a demonstration of efficient, Minos-mediated transgenesis in marine invertebrates.     

Teaching and training in old age psychiatry: a general survey of the World Psychiatric Association member societies

OBJECTIVE: One of the main goals of the World Psychiatric Association (WPA) section on old age psychiatry is to promote its discipline and consequently to help member societies to promote and develop locally specific medical education programmes in old age psychiatry. In order to target its support to the needs expressed by the member societies, the section conducted a survey within the WPA during the year 2001. METHOD: A questionnaire was sent to each of the 116 WPA member societies in 93 countries. It assessed the level of development of medical education in old age psychiatry in each country, as well as the perceived needs in educational material. RESULTS: Answers were obtained from 50 WPA member societies (response rate 54%) from 48 countries (response rate 52%). The existence of specific old age psychiatry services was reported in 40 (83%) countries, but the discipline is recognized as a subspecialty in only 13 (27%). Formal teaching in old age psychiatry was reported at the undergraduate level in 44 (92%) countries. Specific learning objectives for postgraduate training were reported in 30 (86%) of the countries where the discipline is not yet recognized as a subspecialty. Specific Continuing Medical Education (CME) programs were however reported in only 50% of the countries. Support for the development of educational material was mostly thought to be useful at the postgraduate level. Depression, dementia, psychopharmacology and psychotherapy were among the most frequently cited areas in which educational material might be usefully provided. CONCLUSION: Support for the development of postgraduate training is seen as the most pressing need by WPA member societies. Such support could help to increase the level of recognition of the discipline locally and hence provide more effective support to older people with mental disorders.     

Alzheimer Disease International's 10/66 Dementia Research Group - one model for action research in developing countries

BACKGROUND: The 10/66 Dementia Research Group (10/66) founded in 1998, is a network of over 100 researchers from mainly developing countries. 10/66 is committed to encourage more good quality research in those regions, where an estimated two-thirds of all those with dementia live. It represents a collaboration of academics, clinicians, and an international non-governmental organization, Alzheimer's Disease International (ADI). METHOD: 10/66 pilot studies in 26 centres in Latin America, India, Africa and China and SE Asia suggest that education and culture-fair diagnosis is an attainable aim. Despite extended family care networks, these studies also identified high levels of practical, psychological and economic strain upon caregivers. Population-based studies in six centres will now estimate prevalence, describe impact and seek to identify genetic and environmental risk factors in novel settings. At a practical level, 10/66 has studied ways to circumvent the lack of help-seeking in developing countries, and has developed a low-level intervention to educate and train caregivers. CONCLUSION: The links with ADI and its international networks, and the volunteerism of ADIs members have fostered the rapid growth of 10/66. The partnership facilitates both the raising of awareness and influence upon policy, as 10/66 research evidence can be used by ADI and national Alzheimer's Associations to direct and support advocacy.