Female urologic diagnostic techniques

With the exception of stress incontinence, the most common urologic problems unique to female patients are vesicovaginal fistulas and urethral diverticula. The author describes modifications of a Foley catheter both to facilitate distention of the vagina for vaginoscopy and for urethrography and use of the visual urethrotome for urethroscopy.     

Detection of Chlamydia trachomatis in general practice urine samples.

BACKGROUND. Chlamydia trachomatis is frequently overlooked as a cause of dysuria and urinary frequency in general practice patients. AIM. This study set out to determine the impact of performing chlamydial antigen detection on sterile pyuria samples from patients aged 16-65 years and which were submitted to a hospital microbiology laboratory by general practitioners in the Winchester health district for routine microbiological investigations. METHOD. Chlamydial antigen detection was performed by enzyme immunoassay and direct immunofluorescence. The cost of performing the test was estimated. In the first year of the study (1991) questionnaires were sent to general practitioners whose patients had a positive test result. RESULTS. A total of 1025 samples of sterile pyuria were received at the laboratory between January 1991 and March 1993. Chlamydial antigen was detected in 54 samples (5%); 22 men and 32 women aged between 16 and 57 years (mean 25 years). The detection rate was highest in the 16-20 years age group (22% of men had a positive sample and 7% of women). Completed questionnaires from 27 general practitioners revealed that 59% of their patients were referred to the genitourinary clinic for treatment and contact tracing. The others were treated by the general practitioner. The cost of the screening programme per cure in this population was estimated to be 246 pounds. CONCLUSION. C trachomatis is a significant pathogen which may go unrecognized and untreated. The cost, medically and financially, of screening for this pathogen and treating infected patients and contacts is likely to be less than ignoring it, particularly if screening is confined to the 16-30 years age group. General practitioners should consider the diagnosis of chlamydial infection in young adult patients with sterile pyuria, and microbiology laboratories should screen sterile pyuria samples for chlamydial antigen.     

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.

PURPOSE: The study's purpose was to understand the molecular basis for different clinical phenotypes of the 5T variant, a tract of 5 thymidines in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which disrupts processing of CFTR mRNA and reduces synthesis from the corresponding CFTR alleles. METHOD: We analyzed the polymorphic TG dinucleotide repeat adjacent to the 5T variant in intron 8 and the codon 470 in exon 10. Patients selected for this study were positive for both the 5T variant and the major cystic fibrosis mutation, Delta F508. Almost all Delta F508 mutation alleles occur in a 10TG-9T-470M haplotype. Therefore, it is possible to determine the haplotype of the 5T variant in trans. RESULTS: Of the 74 samples analyzed, 41 (55%) were 11TG-5T-470M, 31 (42%) were 12TG-5T-470V, and 2 (3%) were 13TG-5T-470M. Of the 49 cases for which we had clinical information, 17.6% of females (6/34) and 66.7% of males (10/15) showed symptoms resembling atypical cystic fibrosis. The haplotype with the highest penetrance in females (42% or 5/12) and more than 80% (5/6) in males is 12TG-5T-470V. We also evaluated 12 males affected with congenital bilateral absence of vas deferens and positive for the 5T variant; 10 of 12 had the 12TG-5T-470V haplotype. CONCLUSION: Overall, the 5T variant has a milder clinical consequence than previously estimated in females. The clinical presentations of the 5T variant are associated with the 5T-12TG-470M haplotype.     

Mossy and climbing fibre organization on the anterior lobe of the cerebellum activated by forelimb and hindlimb areas of the sensorimotor cortex

Summary Stimulation of forelimb and hindlimb areas of the sensorimotor cortex in the cat evokes in the lobus anterior of the cerebellum an early response at latency of 3–3.5 msec due to the mossy fibre input (MF) and a later response at latency of 13–16 msec due to the climbing fibre (CF) input.In the pars intermedia these two types of responses are organized in a somatotopic manner: the hindlimb area projects in lobuli HIV and HIII whereas the forelimb area projects to lobulus HV. In the vermis a somatotopic arrangement is less clear. Both forelimb and hindlimb areas of the sensorimotor cortex project to lobuli III, IV and V: on a maintained somatotopy in a caudo-rostral direction there is a tendency for the hindlimb area of the sensorimotor cortex to be well represented in a longitudinal strip close to the paravermal sulcus. This arrangement in the vermis is evident for the CF pathways, but more difficult to demonstrate for the MF pathways.The forelimb area of the sensorimotor cortex projects to those areas of the lobus anterior impinged upon by the forelimb nerves through both the MF and CF systems and the same holds true for the hindlimb area and the hindlimb nerves.     

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.

PURPOSE: We expect that the mutation panel currently recommended for preconception/prenatal CF carrier screening will be modified as new information is learned regarding the phenotype associated with specific mutations and allele frequencies in various populations. One such example is the I148T mutation, originally described as a severe CF mutation. After implementation of CF population-based carrier screening, we learned that I148T exists as a complex allele with 3199del6 in patients with clinical CF, whereas asymptomatic compound heterozygotes for I148T and a second severe CF mutation were negative for 3199del6. METHODS: We performed reflex testing for 3199del6 on 663 unrelated specimens, including I148T heterozygotes, compound heterozygotes, and a homozygous individual. RESULTS: Less than 1% of I148T carriers were also positive for 3199del6. Excluding subjects tested because of a suspected or known CF diagnosis or positive family history, 0.6% of I148T-positive individuals were also positive for 3199del6. We identified 1 I148T homozygote and 6 unrelated compound heterozygous individuals with I148T and a second CF variant (2 of whom also carried 3199del6). In addition, one fetus with echogenic bowel and one infertile male were heterozygous for I148T (3199del6 negative). CONCLUSIONS: Reflex testing for 3199del6 should be considered whenever I148T is identified. Reflex testing is of particular importance for any symptomatic patient or whenever one member of a couple carries a deleterious CF mutation and the other member is an I148T heterozygote. Further population data are required to determine if I148T, in the absence of 3199del6, is associated with mild or atypical CF or male infertility.     

Supernatants from co-cultured endothelial cells and syncytiotrophoblast microvillous membranes activate peripheral blood leukocytes in vitro

There is evidence for both endothelial cell and peripheral blood leukocyte (PBL) activation in pre-eclampsia. Syncytiotrophoblast microvillous membranes (STBM) are shed in greater quantities from the placenta in pre-eclampsia, disrupt cultured endothelial cells in vitro and may be the immediate cause of the maternal syndrome. The aim of this study was to determine if endothelial cells co-cultured with STBM release factors that can activate PBL in vitro. Flow cytometry was used to measure changes in intracellular free ionized calcium ([Ca2+]i), pH (pHi) and reactive oxygen species (iROS) as indices of leukocyte activation. PBL from male non-pregnant donors was exposed to supernatants from human umbilical vein endothelial cells (HUVEC) cultured with STBM. The time course of changes in [Ca2+]i, pHi and iROS was determined and compared with appropriate control measurements. The test supernatants caused significant activation of granulocytes and monocytes in terms of increases in [Ca2+]i and falls in pHi and release of iROS. Lymphocytes responded only with respect to increases in iROS. The results define a possible mechanism for the activation of PBL in pre-eclampsia, as being secondary to endothelial cell activation caused by circulating STBM shed in excess amounts from the placenta.     

How to bring primary care back to patients

Reforming the health care system is too often thought of in the context of finding new financing methods to preserve the existing system. The nursing profession's agenda for health reform argues for a return to more basic values of consumer empowerment, access, primary care, prevention and self-care balanced with acute care. Family-care clinics based in schools, workplaces, and other community sites are an important element to this approach. The ever-worsening shortage of primary care providers can be solved by support of advanced practice nurses.     

Prostate cancer old problems and new approaches

Rates of prostate cancer (PCa) have increased so dramatically over the last decade that the age adjusted incidence rate for PCa is now greater than that any other cancer among men in the United States. This review, published as a three part series, provides a state-of-art assessment of the PCa problem in its divergent aspects.Part 1 covers epidemiology, incidence and progression. Several epidemiological studies have demostrated that first degree male relatives of men with PCa are at increased risk of developing the disease. Familial and genetic factors as well as medical, anthropometric, dietary, hormonal and occupational factors involved in PCa are discussed. Postmortem examination of the prostate in men without evidence of PCa documented a high frequency of adenocarcinoma. Latent disease occurred as early as the second decade of life. Although there is no significant difference in incidence between Caucasian and African-American males, high grade prostatic intraepithelial neoplasia (HGPIN) is higher in the latter group. While dietary fat, androgens and certain environmental factors may be determinants for PCa, the exact mechanism of tumorigenesis is still relatively unknown. The current thinking of the role of genomic instability, chromosomal alterations, tumor suppressor genes and the androgen receptor are explored.     

Osteoma of the thyroid cartilage--an unusual cause of difficult intubation

We describe a case of histologically proven osteoma of the thyroid cartilage that presented because of difficulty in intubation prior to coronary bypass surgery. To our knowledge, this is the first documented case in the English literature.