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11.
12.
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 总被引:56,自引:0,他引:56
Vogt PH; Edelmann A; Kirsch S; Henegariu O; Hirschmann P; Kiesewetter F; Kohn FM; Schill WB; Farah S; Ramos C; Hartmann M; Hartschuh W; Meschede D; Behre HM; Castel A; Nieschlag E; Weidner W; Grone HJ; Jung A; Engel W; Haidl G 《Human molecular genetics》1996,5(7):933-943
In a large collaborative screening project, 370 men with idiopathic
azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA
loci in Yq11. In 12 individuals, we observed de novo microdeletions
involving several DNA loci, while an additional patient had an inherited
deletion. They were mapped to three different subregions in Yq11. One
subregion coincides to the AZF region defined recently in distal Yq11. The
second and third subregion were mapped proximal to it, in proximal and
middle Yq11, respectively. The different deletions observed were not
overlapping but the extension of the deleted Y DNA in each subregion was
similar in each patient analysed. In testis tissue sections, disruption of
spermatogenesis was shown to be at the same phase when the microdeletion
occurred in the same Yq11 subregion but at a different phase when the
microdeletion occurred in a different Yq11 subregion. Therefore, we propose
the presence of not one but three spermatogenesis loci in Yq11 and that
each locus is active during a different phase of male germ cell
development. As the most severe phenotype after deletion of each locus is
azoospermia, we designated them as: AZFa, AZFb and AZFc. Their probable
phase of function in human spermatogenesis and candidate genes involved
will be discussed.
相似文献
13.
Jalilvand S Tornesello ML Buonaguro FM Buonaguro L Naraghi ZS Shoja Z Ziaee AA Hamkar R Shahmahmoodi S Nategh R Mokhtari-Azad T 《Virus research》2012,163(2):644-649
Kaposi's sarcoma (KS) is a rare cancer in Iran and there is no epidemiological and molecular information about HHV-8 variants circulating among the Iranian population. In this study HHV-8 sequences have been analyzed in 43 cutaneous KS biopsies from Iranian patients mainly affected by classic KS. DNA samples were subjected to PCR amplification of HHV-8 ORF26, T0.7 and K1 followed by direct nucleotide sequencing and phylogenetic analysis. The analysis of ORF26 showed that 30 (69.8%) and 13 (30.2%) samples belonged to subtypes A/C and K, respectively. In general, the clustering of HHV-8 T0.7 variants paralleled that of ORF26. Genotyping of K1 sequences showed that the majority of samples (39 out of 41) fall into the large C clade with only 2 belonging to the A clade. In conclusion, HHV-8 variants identified among classic Iranian KS are largely related to Eurasian genotypes previously identified in KS from Mediterranean, Middle East, and East Asian regions. 相似文献
14.
Objectives
To analyze the concept of “case series” in the medical literature compared with case reports.Methods
A PubMed search for articles published during 2009 which had “case series” in their title was performed. A total number of 621 articles were retrieved. 586 papers were included in the analysis and 35 were excluded (18 were commentary letters, 5 were not in English, and twelve could not be retrieved by our Library). The number of patients and category of these articles were analyzed.Results
The median (range) of the number of cases of articles having “case series” in their title was 7 (1–6432) cases. 186/ 586 articles had less than 5 cases (31.7%, 95% CI (28.3–35.1%)). The median (range) of the number of cases of articles having “case report” as their publication type was 4 (1–178) cases. Out of the 219 articles categorized as case reports 114 (52.1%, 95% CI (45.6–58.6%)) had less than five cases.Conclusions
The concept of “case series” is not well defined in the literature and does not reflect a specific research design. We suggest that a case series should have more than four patients while four paitents or less should be reported individually as case reports. 相似文献15.
Nynke D Scherpbier-de Haan Gerald MM Vervoort Chris van Weel Jozé CC Braspenning Jan Mulder Jack FM Wetzels Wim JC de Grauw 《The British journal of general practice》2013,63(617):e798-e806
Background
Chronic kidney disease (CKD) is highly prevalent in patients with diabetes or hypertension in primary care. A shared care model could improve quality of care in these patientsAim
To assess the effect of a shared care model in managing patients with CKD who also have diabetes or hypertension.Design and setting
A cluster randomised controlled trial in nine general practices in The Netherlands.Method
Five practices were allocated to the shared care model and four practices to usual care for 1 year. Primary outcome was the achievement of blood pressure targets (130/80 mmHg) and lowering of blood pressure in patients with diabetes mellitus or hypertension and an estimated glomerular filtration rate (eGFR)<60ml/min/1.73m2.Results
Data of 90 intervention and 74 control patients could be analysed. Blood pressure in the intervention group decreased with 8.1 (95% CI = 4.8 to 11.3)/1.1 (95% CI = −1.0 to 3.2) compared to −0.2 (95% CI = −3.8 to 3.3)/−0.5 (95% CI = −2.9 to 1.8) in the control group. Use of lipid-lowering drugs, angiotensin-system inhibitors and vitamin D was higher in the intervention group than in the control group (73% versus 51%, 81% versus 64%, and 15% versus 1%, respectively, [P = 0.004, P = 0.01, and P = 0.002]).Conclusion
A shared care model between GP, nurse practitioner and nephrologist is beneficial in reducing systolic blood pressure in patients with CKD in primary care. 相似文献16.
Background
Critically-ill trauma patients have a high mortality.Objective
To study the factors affecting the mortality of ICU trauma patients treated at Al-Ain Hospital, United Arab Emirates (UAE).Methods
All trauma patients who were admitted to the ICU were prospectively collected over three years (2003–2006). Univariate and multivariate analysis were used to compare patients who died and who did not. Gender, age, nationality, mechanism of injury, systolic blood pressure and GCS on arrival, the need for ventilation, presence of head or chest injuries, AIS for the chest and head injuries and the ISS were studied.Results
There were 202 patients (181 males). The most common mechanism of injury was road traffic collisions (72.3 %). The overall mortality was 13.9%. A direct logistic regression model has shown that factors that affected mortality were decreased GCS (p < 0.0001), mechanism of injury (p = 0.004) with burns having the highest mortality, increased age (p = 0.004), and increased ISS (p = 0.02). The best GCS that predicted mortality was 5.5 while the best ISS that predicted mortality was 13.5.Conclusion
Road traffic collision is the most common cause of serious trauma in UAE followed by falls. Decreased GCS was the most significant factor that predicted mortality in the ICU trauma patients. 相似文献17.
Esther STF Smeulders Jolanda CM van Haastregt Elisabeth FM van Hoef Jacques ThM van Eijk Gertrudis IJM Kempen 《BMC health services research》2006,6(1):91
Background
Congestive heart failure (CHF) has a substantial impact on care utilisation and quality of life. It is crucial for patients to cope with CHF adequately, if they are to live an acceptable life. Self-management may play an important role in this regard. Previous studies have shown the effectiveness of the 'Chronic Disease Self-Management Program' (CDSMP), a group-based cognitive behavioural programme for patients with various chronic conditions. However, the programme's effectiveness has not yet been studied specifically among CHF patients. This paper presents the design of a randomised controlled trial to evaluate the effects of the CDSMP on psychosocial attributes, health behaviour, quality of life, and health care utilisation of CHF patients. 相似文献18.
A. Buonaguro M. Colangelo B. Daniele G. Cantone A. Ambrosio 《Child's nervous system》1989,5(3):153-155
In order to characterize neurological, intellectual and behavioral sequelae better after surgical treatment of brain abscess in childhood, 32 children were studied over a 10-year time span after treatment of a brain abscess. Depending on the clinical condition, surgical treatment consisted of simple aspiration through a burr hole or of total excision after craniotomy. There were only 3 postoperative deaths (9%). The scheduled time for long-term follow-up was 3 years after surgery. The patient assessment included information concerning the presence of seizures, accurate neurological examination, an EEG, and a battery of intellectual tests to evaluate the presence of behavioral-mental deficits. Late seizures developed in 7 of the 29 survivors. Five patients presented permanent hemiparesis after surgical treatment. It is noteworthy that the intellectual impairment observed was more severe in younger patients, while the behavioral disturbances were more marked in school-age children.Presented at the 11th Meeting of the European Society for Paediatric Neurosurgery, Naples 1988 相似文献
19.
20.
We report on the evolution in concept and techniques that allowed us to improve the treatment of spigelian hernia, operable in day surgery in 90% of cases and through a preperitoneal and recently a preperitoneal and subfascial prosthetic repair (PHS). Background data. We propose an innovative use of the PHS mesh for spigelian hernia repair. With this new implementation, we confront the standard surgical technique and its postoperative period. Methods. From January 1992 to March 2004, we performed 2,500 hernia surgical operations, including 32 spigelian hernia repairs (1.3% of total case series). The first surgical approach used for 20 of these 32 patients (62.5% of total spigelian hernias), all electively operated on, was a classical preperitoneal repair (Wantz), performed when possible by size of defect and weight (Body Mass Index) of the patient, under local anesthesia and on a day-surgery basis. Our new modified technique takes place through the insertion of a PHS large-type mesh, whose bottom underlay portion lies flat in the preperitoneal space with the connector obliterating the hernial orifice and with the overlay portion lying on the internal oblique muscle, covered by the aponeurosis of the external oblique muscle. Results. Our modification to the classical technique consisted only in the application of a product, such as the PHS, in a hernia defect, which presented with an orifice of the size of the connector and, therefore, was easily repairable with the use of the PHS device. This approach is easier than the preperitoneal approach, its always suitable for local anaesthesia, and it gives a more comfortable postoperative period. The surgical approach may be performed completely in day surgery. Conclusions. We believe that spigelian hernia surgical repair should always be performed by means of a preperitoneal prosthesis under local anaesthesia when the patients clinical and physical conditions allow for it, always in day surgery, and using the PHS mesh when the hernia defect size fits with the connector diameter. This last possibility seems to be easier and more comfortable for the patient in the postoperative period. 相似文献