Male infertility as a component of Carney complex.

Carney complex (CNC) is a multiple neoplasia syndrome characterised by endocrine tumours, spotty skin pigmentation, cardiac and other myxomas, psamommatous and pigmented schwannomas, large cell calcifying Sertoli cell tumours, and mammary ductal adenomas and other more rare lesions. CNC is inherited in an autosomal-dominant manner and has been mapped to at least two chromosomal loci. Patients who map to the CNC1 locus located on chromosome 17 carry inactivating mutations of the PRKAR1A gene that encodes the cAMP-dependent protein kinase regulatory subunit type 1-alpha (Kirschner et al., 2000). One gene responsible for type 2 (CNC2) is located on chromosome 2p16. Infertility in CNC can be caused by a number of factors; there is evidence that prkar1a deficiency in mice leads directly to infertility (Burton et al., 2006), but patients with CNC also have Sertoli cell tumours and a number of other reasons to affect fertility. We report on an infertile male with CNC and present evidence that male infertility should be considered as part of the phenotype of CNC.

Effect of CT-based attenuation correction on uptake ratios in skeletal SPECT.

UNLABELLED: The AIM of this study was to determine the clinical relevance of compensating SPECT data for patient specific attenuation by the use of CT data simultaneously acquired with SPECT/CT when analyzing the skeletal uptake of polyphosphonates (DPD). Furthermore, the influence of misregistration between SPECT and CT data on uptake ratios was investigated. METHODS: Thirty-six data sets from bone SPECTs performed on a hybrid SPECT/CT system were retrospectively analyzed. Using regions of interest (ROIs), raw counts were determined in the fifth lumbar vertebral body, its facet joints, both anterior iliacal spinae, and of the whole transversal slice. ROI measurements were performed in uncorrected (NAC) and attenuation-corrected (AC) images. Furthermore, the ROI measurements were also performed in AC scans in which SPECT and CT images had been misaligned by 1 cm in one dimension beforehand (ACX, ACY, ACZ). RESULTS: After AC, DPD uptake ratios differed significantly from the NAC values in all regions studied ranging from 32% for the left facet joint to 39% for the vertebral body. AC using misaligned pairs of patient data sets led to a significant change of whole-slice uptake ratios whose differences ranged from 3,5 to 25%. For ACX, the average left-to-right ratio of the facet joints was by 8% and for the superior iliacal spines by 31% lower than the values determined for the matched images (p < 0.05). CONCLUSIONS: AC significantly affects DPD uptake ratios. Furthermore, misalignment between SPECT and CT may introduce significant errors in quantification, potentially also affecting left-to-right ratios. Therefore, at clinical evaluation of attenuation-corrected scans special attention should be given to possible misalignments between SPECT and CT.

Providing Complementary and Alternative Medicine in primary care: the primary care workers' perspective.

BACKGROUND: The use of Complementary and Alternative Medicine (CAM) in primary care is growing, but still not widespread. Little is known about how CAM can/should be integrated into mainstream care. OBJECTIVES: To assess primary care health professionals' perceptions of need and of some ways to integrate CAM in primary care. METHOD: Questionnaire survey of primary health care workers in Northwest London. General Practitioners (GPs) were targeted in a postal survey, other members of the primary care team, such as district and practice nurses, were targeted via colleagues. The questionnaire assessed health care professionals' perspective on complementary medicine, referrals, ways to integrate complementary medicine into primary care and interest in research on CAM. RESULTS: Responses were obtained from 149 GPs (40% response rate after one reminder) and 24 nurses and 32 other primary care team members. One hundred and seventy-one (83%) respondents had previously referred (or influenced referral) for CAM treatments, the main reasons cited were: patients request (68%), conventional treatments failed (58%) and evidence (36%) (more than one reason could be given). Acupuncture and homoeopathy were the therapies for which patients were most frequently referred, followed by manual therapies. There was a significant interest in more training/information on CAM (66%). Only 12 respondents (6%) were against any integration of CAM in mainstream primary care. Most respondents felt that CAM therapies should be provided by doctors (66%) or other health professionals trained in CAM (82%). Twenty-six percent of respondents agreed with provision of CAM by non-state-registered practitioners. It was felt that the integration of CAM could lead to cost savings (70%), particularly in conditions involving pain, but also cost increases (55%) particularly in 'poorly defined conditions'. Fifty-six percent of respondents would consider participating in studies investigating CAM. The greatest interest was in acupuncture (41% of those who expressed an interest in research), homoeopathy (30%) and therapeutic massage/aromatherapy (26%). CONCLUSIONS: There is considerable interest in CAM among primary care professionals, and many are already referring or suggesting referral. Such referrals are driven mainly by patient demand and by dissatisfaction with the results of conventional medicine. Most of our respondents were in favour of integrating at least some types of CAM in mainstream primary care. There is an urgent need to further educate/inform primary care health professionals about CAM.

Frequency of CFTR gene mutations in males participating in an ICSI programme.

A higher prevalence of cystic fibrosis transmembrane regulator (CFTR) gene mutations has been suggested both in men affected by congenital aplasia of the vas deferens, and in individuals presenting with reduced sperm quality. In this case, an increased risk for offspring being affected by cystic fibrosis (CF) can be expected in couples who are planning to undergo intracytoplasmic sperm injection (ICSI), since most of the male partners suffer from infertility. In order to determine the risk for these couples more precisely, we offered them a test for the most frequent CF mutations prevalent in the German population. The frequency of mutations within the CFTR gene in the female group was in the same range as expected for the general population (six out of 150). In 10 out of 207 males tested, infertility could be explained by exogenous factors not related to CFTR. Among the remaining 197 males with idiopathic infertility, we detected 13 heterozygotes for a mutation within the CFTR gene. This slightly, but significantly (P = 0.014), elevated rate could indicate that infertile males have, compared with the general population, an increased risk of being a carrier of a CFTR gene mutation.

[Proteins in uterine secretions of fertile and sterile patients using SDS polyacrylamide gel electrophoresis (SDS-PAGE)]. / Untersuchung der Proteine des Uterussekretes fertiler und steriler Patientinnen mittels SDS-Polyacrylamidgelelektrophoreses (SDS-PAGE).

Aim of the presented study was to find out whether there are any differences in the protein patterns of uterine secretions of fertile and sterile women. Analysis was made by polyacrylamide gel electrophoresis (SDS-PAGE). Uterine secretions and sera of 11 sterile and 8 fertile patients were investigated. Utilizing the reducing SDS-electrophoresis, the comparison of all uterine secretions revealed an additional protein band of molecular weight of 33,000 Dalton in the uterine secretions of the fertile women. Secretions of the sterile women showed a protein band which was of significantly lower weight. The significance of this additional protein band as a possible factor of fertility is discussed.

[Treatment of long-term sterility by intra-tubal gamete transfer]. / Die Behandlung langjähriger Sterilität durch intratubaren Gametentransfer (GIFT).

It is reported about a first successful program of gamete intra fallopian transfer (GIFT) as a supplement to intrauterine insemination and to in vitro fertilization (IVF). In 29 patients after HMG stimulation of the ovaries and laparoscopic aspiration of follicles recovered oocytes have been introduced together with prepared sperm via a special catheter directly into the ampulla of the oviduct. In 21 patients with different causes of infertility optimal stimulation conditions could be achieved. A pregnancy rate of 41.4% is the result of 29 GIFT events and 3 of them resulted in spontaneous term deliveries (10.3%).

[Determination of estradiol receptors in the endometrium--a contribution to the diagnosis of functional sterility]. / Die Bestimmung der Estradiolrezeptoren im Endometrium--ein Beitrag zur Diagnostik der funktionellen Sterilität.

In 86 cases of female infertility an endometrial biopsy was performed. The received tissues were examined by histological methods and the binding of estradiol on the specific cytoplasmic receptor was studied. Serum levels of estradiol and progesterone were estimated at the same day.--The estradiol receptor levels from ovulatory cycles are directly dependent on the histological dated phase of the menstrual cycle. The level was highest in late proliferative phase and declines during the secretory phase.--Luteal phase deficiency and other luteal phase defects are connected with a decrease of estrogen receptor concentrations in secretory endometrium.

[Determination of the ovulation date in stimulated cycles with Clostilbegyt]. / Die Bestimmung des Ovulationszeitpunktes bei stimulierten Zyklen mit Clostilbegyt.

Modern sterility therapy presupposes a precise ovulation timing in stimulated cycles. The different contribution and importance clinical hormono-analytical and ultrasonographic methods to and for the determination of the ovulation date were tested in 137 cycles of 84 women with a Clostilbegyt therapy as well as in a control group of 27 spontaneous cycles. It was stated that the results ascertained by ultrasonography are of special importance. Nevertheless the determination of 17 beta-estradiol and the LH estimation must not be neglected as functional criteria. In order to supervise the corpus luteum phase determinations of progesterone, 17 beta-estradiol and prolactin during the second part of the cycle are to be included into a control program.

[Retrograde vascular catheterization as a differential diagnostic method of studying androgenization in the female]. / Die retrograde Gefässsondierung als differentialdiagnostische Untersuchungsmethode bei der Androgenisierung der Frau.

In 20 women with marked androgynism or testosterone concentrations being suspected for a tumor blood samples were taken by selective retrograde catheterization of the ovarian and suprarenal veins via vena femoralis. Testosterone, 17 beta-estradiol, and progesterone were determined and the concentration gradients to peripheral blood levels were calculated. In 20% of patients an pure adrenal and in 5% an ovarian hypersecretion of testosterone was established. A combined adrenal-ovarian hypersecretion was found in 50%. In 25% of the cases no final estimation was made because anatomic variations in venous size and drainage made catheterization and bilateral blood sampling impossible. There were no references to an androgen-secreting tumor.

[Change in the diagnosis and therapy of Stein-Leventhal syndrome]. / Der Wandel von Diagnostik und Therapie beim Stein-Leventhal-Syndrom.

Within the period from 1959 to 1984 the development of diagnostic and therapeutic possibilities has been demonstrated in 68 cases of women with a Stein-Leventhal syndrome. In the first group consisting of 11 female patients who were under examination until 1975 the clinical aspects took the leading part in the diagnosis. The ovarian wedge resection meant histological security and therapy at the same time. During the second period until 1980 (26 women) the hormone diagnostics was an essential criterion. The conservative therapy with Clostilbegyt aimed at the correction of these hormonal dysfunction as well. During the last years (31 women) diagnosis has been concentrated on etiological aspects. Correspondingly an individualized therapy was practised. The advances in the medical attendance of infertility become evident in the increase of the pregnancy rate from 9.1 to 61.3%.

[Detection of estradiol receptors in the cyclic endometrium]. / Der Nachweis von Ostradiolrezeptoren im zyklischen Endometrium.

In 41 women the 17 beta-estradiol-receptors were determined in the cytosol fraction. The highest concentrations were found in cases of glandular-cystic hyperplasia, were as in the cyclic endometrium the highest concentrations were recognized before the date of ovulation at a rate of 189,8 +/- 80 fmol/mg protein. --During the treatment with contraceptive drugs only a small content of receptors was observed in midcycle.