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AM Innes KM Boycott EG Puffenberger D Redl IM MacDonald AE Chudley C Beaulieu R Perrier T Gillan A Wade JS Parboosingh 《Clinical genetics》2010,78(5):424-431
Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS. A founder mutation in BBS2 is responsible for Bardet‐Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. Bardet‐Biedl syndrome (BBS) is a multisystem genetically heterogeneous disorder, the clinical features of which are largely the consequence of ciliary dysfunction. BBS is typically inherited in an autosomal recessive fashion, and mutations in at least 14 genes have been identified. Here, we report the identification of a founder mutation in the BBS2 gene as the cause for the increased incidence of this developmental disorder in the Hutterite population. To ascertain the Hutterite BBS locus, we performed a genome‐wide single nucleotide polymorphism (SNP) analysis on a single patient and his three unaffected siblings from a Hutterite family. The analysis identified two large SNP blocks that were homozygous in the patient but not in his unaffected siblings, one of these regions contained the BBS2 gene. Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472‐2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts, confirming that this is a founder mutation in the Hutterite population. Further studies are required to determine the frequency of this mutation and its role, if any, in the expression of other ciliopathies in this population. 相似文献
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B Airan Ch SK Choudhary M. Ch CSK Ready M. Ch A Saxena DM SS Kothari DM IM Rao M.Ch P Venugopal M.Ch 《Indian Journal of Thoracic and Cardiovascular Surgery》2000,16(1):15-18
Introduction The Fontan procedure has undergone many modifications to avoid atrial arrhythmias and thrombus formation. We used patient’s
interatrial septum as a flap to direct the inferior venacaval blood to the superior venacava.
Methods Seventeen patients, aged 1 to 17 years, underwent modified total cavopulmonary anastomosis. Interatrial septum was used to
create the inner half of the atrial tunnel, outer half being formed by right atrial free wall. Post-operatively, all patients
underwent echocardiography. Seven patients underwent 24 hour ambulatory Holter monitoring and 6 patients underwent cardiac
catheterization and cineangiography.
Results There was one early death due to low cardiac output. One patient had transient supraventricular arrhythmia. Two patients had
singnificant pleural effusion. Holter Monitoring reveled sinus rhythm in all 7 patients studied. Follow up ranged from 18
to 60 months and patients were evaluated as they came for follow up. Long term follow up is currently being compiled. There
was one late death from a non-cardiac cause. The remaining patients were in New York Heart Association (NYHA) Class I or II.
All patients were in sinus rhythm. Echocardiography and cineangiography revealed absence of obstruction or leak.
Conclusions Total cavopulmonary anastomosis using autogenous atrial septum is a useful modification for classical cavopulmonary anastomosis
and provides good early results. 相似文献
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Marchenko V Yu Alekseev A Yu Tserennorov D Yurlov AK Susloparov IM Sharshov KA Ilyinykh FA Zolotykh SI Abmed D Otgonbaatar D Shestopalov AM 《Asian Pacific journal of tropical medicine》2010,3(2):90-93
ObjectiveTo present results of virological study of wild birds inhabiting Western Mongolia.MethodsOver a period of 2003–2008, we isolated 13 influenza A viruses: H1N1, H3N6, H13N8 and H4N6 subtypes. We did not isolate any H5N1 subtype, that still cause epizooty in wild birds and poultry.ResultsWe revealed taxonomic and ecological heterogeneity of the birds involved in maintenance of circulation of influenza viruses in the given territory. Influenza viruses were isolated from birds of 6 orders; among them there are species preferring water and semi-aquatic biotopes, one species preferring dry plain region, and also one species which can inhabit both dry and water biotopes.ConclusionsRepresentatives of all main orders of Western Mongolia avifauna are involved in support of influenza A virus circulation, highly pathogenic H5N1 influenza viruses were registered in Mongolia thus it's necessary to continue permanent influenza virus surveillance in wild birds' populations. 相似文献
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ObjectiveTo explore the prevalence, pathogenicity, and antibiotic susceptibility patterns of urinary tract infections at the University of Port Harcourt Teaching Hospital.MethodsSamples from 400 patients with a presumptive diagnosis of urinary tract infection including 250 non pregnant females and 150 males were used for this study. They were distributed into two groups: children aged 2 to 17 (Group A) and adults aged 18 to 75 (Group B). The standard wire loop and agar diffusion technique were employed for culture and susceptibility testing, respectively. Data obtained were analysed using SPSS, version 14.Results30.0% of Group A and 41.0% of Group B had significant bacteriuria with 66.7% and 79.3% as females, respectively. The commonest isolates cultured were Escherichia coli (32.8%), Staphylococcus aureus (17.2%), and Klebsiella spp. (16.4%). About 76.6% of isolates were sensitive to the fluorinated quinolones, 31.2% to the aminoglycosides, and 22.7% to the urinary antiseptic, nitrofurantoin. The isolates were non-sensitive to tetracycline (93.8%), cotrimoxazole (92.2%), and nalidixic acid (86.7%). Most isolates showed non-uniform sensitivity patterns to the cephaloporins (cefuroxime and ceftazidime). Pseudomonas spp. isolates were generally resistant to the fluorinated quinolones.ConclusionThough the fluorinated quinolones are still largely effective for empirical therapy in urinary tract infections, the importance of prior sensitivity testing in checking the emergence of bacterial antibiotic resistance can not be overemphasized. 相似文献
39.
OBJECTIVE: to explore the opinions of midwives on the desirability of preconception care for all couples contemplating pregnancy, their willingness to introduce preconception care to midwifery practice and, if it were to be implemented, the necessary conditions, including knowledge, postgraduate education and referral possibilities for successful implementation in the community. PARTICIPANTS: all community midwives (n = 129) working in 49 midwifery practices that refer their high-risk clients to the Erasmus University Medical Centre, Rotterdam (the Netherlands). SETTING: Rotterdam and its immediate surrounding communities. DESIGN: midwives working at the midwifery practices were recruited by telephone. All agreed to participate, and subsequently received a questionnaire by post. FINDINGS: 102 (79%) questionnaires were returned. Ninety-five (93%) of the 102 midwives were familiar with the concept of preconception care, and 71 (70%) of them already provided it to some extent. Of the 102 respondents, 84 (83%) seemed to be willing to provide such care in the future, and 56 (55%) felt that preconception care should be part of their professional domain. Midwives, however, lack time and knowledge to do so. KEY CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: community midwives already provide counselling, although not on a structural basis, and usually not earlier than in the first trimester of pregnancy. Midwives seem willing to play an active role in the provision of preconception care in the future. There is, however, great need for postgraduate training. 相似文献
40.
Nontuthuzelo IM Somdyala Debbie Bradshaw Wentzel CA Gelderblom Donald M Parkin 《International journal of cancer. Journal international du cancer》2010,127(10):2420-2429
Cancer incidence rates and patterns are reported for a rural population, living in the Eastern Cape Province of South Africa for the period 1998–2002. The population‐based cancer registry has operated for 20 years, using both active and passive methods for case finding, through collaborations with 19 health facilities: 11 district hospitals, 7 referral hospitals and 1 regional laboratory. The age standardized incidence rates for all cancers were 73.1 per 100,000 in males and 64.1 per 100,000 in females. The leading top 5 cancers for males were oesophagus (32.7 per 100,000), lung (5.8 per 100,000), prostate (4.4 per 100,000), liver (4.4 per 100,000) and larynx (2.5 per 100,000) whereas for females they were cervix (21.7 per 100,000), oesophagus (20.2 per 100,000), breast (7.5 per 100,000), ovary (0.9 per 100,000) and liver (0.9 per 100,000). The incidence of Kaposi sarcoma was low, and higher for males (1.6 per 100,000) than females (0.3 per 100,000). Lung cancer in both males and females was relatively low compared to the high incidence of oesophagus cancer. 相似文献