Complete maternal uniparental isodisomy of chromosome 4 in a subject with major depressive disorder detected by high density SNP genotyping arrays.

Uniparental isodisomy (iUPD) is a rare genetic condition caused by non-disjunction during meiosis that ultimately leads to a duplication of either the maternal or paternal chromosome in the affected individual. Two types of disorders can result, those due to imprinted genes and those due to homozygosity of recessive disease-causing mutations. Here, we describe the third known case of complete chromosome 4 iUPD of maternal origin. This condition became apparent during whole genome linkage studies of psychiatric disorders in the Portuguese population. The proband is an adult female with normal fertility and no major medical complaints, but a history of major depressive disorder and multiple suicide attempts. The proband's siblings and parents had normal chromosome 4 genotypes and no history of mood disturbance. A brief review of other studies lends support for the possibility that genes on chromosome 4 might confer risk for mood disorders. We conclude that chromosome 4 maternal uniparental disomy (UPD) is a rare disorder that may present with a major depressive phenotype. The lack of a common disease phenotype between this and two other cases of chromosome 4 iUPD [Lindenbaum et al. [1991] Am J Med Genet 49(Suppl 285):1582; Spena et al. [2004] Eur J Hum Genet 12:891-898) would suggest that there is no vital maternal gene imprinting on chromosome 4. However, since there is no reported case of paternal chromosome 4 UPD, paternal gene imprinting on chromosome 4 cannot be excluded.     

Pseudotumour cerebri in a young obese woman on oral contraceptives.

OBJECTIVES: Pseudotumour cerebri has been previously recognized as a neurological side effect of combined oral contraceptives but has not been diagnosed with a delay of 3 years after initiation of combined oral contraceptives. CASE REPORT: A 19-year-old obese woman developed visual impairment and headache, 4 months after starting combined oral contraceptives. Three years later symptoms deteriorated and she presented with prominent tendon-jerks and congested optical-discs. Normal CSF drained with high pressure from the spinal tap. Pseudotumour cerebri was diagnosed. Headache and visual impairment resolved within 3 weeks after discontinuation of combined oral contraceptives. CONCLUSIONS: Combined oral contraceptives-induced pseudotumour cerebri may remain undetected for years. Young, obese women with visual impairment and headache under combined oral contraceptives should undergo immediate neurological and ophthalmological investigation.     

Female pelvic floor. Descriptive anatomy and clinical exploration by transvaginal ultrasound

In order to assess the state and pathology of the woman's pelvis minor, a number of methods are commonly used among practitioners, encompassing clinical exploration, radiology, MRN, urodynamics, endoscopy and echography.

Echography has been poorly used in clinical pelvic exploration and its reliability is actually a matter of controversy 1. However, echographic surveys can provide us with valuable gynecological data on the state and pathologies of the soft pelvis, within the genital regions or even going beyond them, i.e. the rectal channel, bladder, urethra, anus, vascular plexuses, and all of their supporting tissues.

At our research unit, we have been employing Transvaginal Ultrasound echography (TVU) for a long time in conjunction with other pelvis-focused methods in order to study different kinds of pelvic alterations. TVU has proven to be friendly to use, fast, harmless and inexpensive, allowing serial explorations and producing high-quality dynamic images (loop-cinema, video-tape). Furthermore, this method is fairly aseptic in that the occurrence of faeces in the rectal ampolla is not a nuisance but a bonus in tracking the contours of the rectum walls and other topographical features which would be otherwise difficult to survey.

A complete pelvic floor TVU may add no longer than 5-8 minutes to a routine gynecological examination, can be implemented by the general gynecologist and generates data that can be further studied by the appropriate specialist for a more insightful evaluation 2.     

Multiple Lidkantentumore

Ohne Zusammenfassung     

The economics of medical therapy for lower urinary tract symptoms associated with benign prostatic hyperplasia

Medical therapy is currently the most popular treatment choice for lower urinary tract symptoms (LUTS) associated with benign prostatic hyperplasia (BPH). Because medical therapy of BPH-related LUTS is considered a life-long strategy, short- and long-term cost considerations should play a major role in therapeutic decision-making. The effectiveness in terms of long and short amelioration of symptoms, flow rate, and quality of life are well documented for 5α-blockers and 5α-reductase inhibitors as well as for the gold standard treatment for BPH, transurethral resection of the prostate and minimally invasive therapies. Short-and long-term safety concerns also are well documented for these various treatment options. On the contrary, short- and long-term costs have been less well studied and comparisons depend on the model or analyses undertaken in the few studies available. However, the economic studies based on prospective clinical trial data that have become available throughout the past several decades allow us to rationalize our use of α-blockers, 5α -reductase inhibitors, and combination therapy, taking into consideration age, severity of symptoms, prostate volume, prostate-specific antigen, and the differential response of the various medications (and combination) in selected patients. Based on current studies, 5α -blockers generally provide cost-effective therapy for most patients, whereas 5α-reductase therapy and combination therapy provide cost-effective treatment for patients with larger prostate glands or higher baseline prostate-specific antigen levels.     

Reproducibility of ultrasound pachymetry using the Sonogage Corneo-Gage Plus 2.

PURPOSE: The aim of this study was to determine the reproducibility of measurements made using the Sonogage Corneo-Gage Plus 2 (Cleveland, Ohio) ultrasound pachymeter of total corneal and corneal epithelial thickness in 5 different regions of the cornea. METHODS: Twenty-seven subjects at the New England College of Optometry (NECO) and 20 subjects at the Southern College of Optometry (SCO) were enrolled in this study. Measurements were taken of the central cornea as well as the nasal and temporal regions of the midperipheral and peripheral regions of the right cornea of each subject. Identical measurements were again taken in these subjects 1 week later at approximately the same time of day. Within-subject variations were then assessed using paired t tests. RESULTS: The only significant measurement differences that were found between visits were for full corneal thickness at both the nasal and temporal midperipheral locations. The mean differences for these locations were 13.5 microm and 13.7 microm, respectively. CONCLUSIONS: Epithelial corneal thickness and central and peripheral total corneal thickness measurements using the Corneo-Gage Plus 2 pachymeter were reproducible; however, midperipheral total corneal thickness measurements showed poor reproducibility.