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51.
K. C. Worley E. A. Lindsay W. Bailey J. Wise E. R. B. McCabe A. Baldini 《American journal of medical genetics. Part A》1995,57(4):615-619
Diagnosis of X-chromosomal microdeletions has relied upon the traditional methods of Southern blotting and DNA amplification, with carrier identification requiring timeconsuming and unreliable dosage calculations. In this report, we describe rapid molecular cytogenetic identification of deleted DNA in affected males with the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency, CGKD) and female carriers for this disorder. CGKD deletions involve the genes for glycerol kinase, Duchenne muscular dystrophy, and/or adrenal hypoplasia congenita. We report an improved method for diagnosis of deletions in individuals with CGKD and for identification of female carriers within their families, using fluorescence in situ hybridization (FISH) with a cosmid marker (cosmid 35) within the glycerol kinase gene. When used in combination with an Xq control probe, affected males demonstrate a single signal from the control probe, while female carriers demonstrate a normal chromosome with two signals, as well as a deleted chromosome with a single signal from the control probe. FISH analysis for CGKD provides the advantages of speed and accuracy for evaluation of submicroscopic X-chromosomal deletions, particularly in identification of female carriers. In addition to improving carrier evaluation, FISH will make prenatal diagnosis of CGKD more readily available. © 1995 Wiley-Liss, Inc. 相似文献
52.
Diabetes mellitus in Huntington disease 总被引:8,自引:0,他引:8
There have been conflicting reports that individuals with Huntington disease (HD) are prone to abnormalities of carbohydrate metabolism. In this study information about the incidence and control of diabetes mellitus in 620 probands (278 living, 332 deceased) with HD and in their first and second degree relatives was obtained by questionnaire method from participants of the National HD Research Roster. Among the probands, 65 individuals (10.5%) were identified by the informant or verified by examination of Roster family records as diabetic. The prevalence of diabetes, particularly among those less than 50 years of age, is significantly greater than corresponding figures among the general U.S. Caucasian population (Scott 1977, Krolewski & Warram 1985). Incidence rates were not calculated because of ascertainment and other biases in the data. Results from the analysis of family data indicate that HD affected relatives of an HD proband with diabetes are 7 times as likely to have diabetes over the proband's non-HD relatives. A non-diabetic HD proband is equally likely to have an HD or non-HD relative with diabetes. 相似文献
53.
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation 总被引:22,自引:1,他引:22
Marsh DJ; Coulon V; Lunetta KL; Rocca-Serra P; Dahia PL; Zheng Z; Liaw D; Caron S; Duboue B; Lin AY; Richardson AL; Bonnetblanc JM; Bressieux JM; Cabarrot-Moreau A; Chompret A; Demange L; Eeles RA; Yahanda AM; Fearon ER; Fricker JP; Gorlin RJ; Hodgson SV; Huson S; Lacombe D; Eng C 《Human molecular genetics》1998,7(3):507-515
The tumour suppressor gene PTEN , which maps to 10q23.3 and encodes a 403
amino acid dual specificity phosphatase (protein tyrosine phosphatase;
PTPase), was shown recently to play a broad role in human malignancy.
Somatic PTEN deletions and mutations were observed in sporadic breast,
brain, prostate and kidney cancer cell lines and in several primary tumours
such as endometrial carcinomas, malignant melanoma and thyroid tumours. In
addition, PTEN was identified as the susceptibility gene for two hamartoma
syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS) or
Ruvalcaba-Riley-Smith syndrome (MIM 153480). Constitutive DNA from 37 CD
families and seven BZS families was screened for germline PTEN mutations.
PTEN mutations were identified in 30 of 37 (81%) CD families, including
missense and nonsense point mutations, deletions, insertions, a
deletion/insertion and splice site mutations. These mutations were
scattered over the entire length of PTEN , with the exception of the first,
fourth and last exons. A 'hot spot' for PTEN mutation in CD was identified
in exon 5 that contains the PTPase core motif, with 13 of 30 (43%) CD
mutations identified in this exon. Seven of 30 (23%) were within the core
motif, the majority (five of seven) of which were missense mutations,
possibly pointing to the functional significance of this region. Germline
PTEN mutations were identified in four of seven (57%) BZS families studied.
Interestingly, none of these mutations was observed in the PTPase core
motif. It is also worthy of note that a single nonsense point mutation,
R233X, was observed in the germline DNA from two unrelated CD families and
one BZS family. Genotype-phenotype studies were not performed on this small
group of BZS families. However, genotype-phenotype analysis inthe group of
CD families revealed two possible associations worthy of follow-up in
independent analyses. The first was an association noted in the group of CD
families with breast disease. A correlation was observed between the
presence/absence of a PTEN mutation and the type of breast involvement
(unaffected versus benign versus malignant). Specifically and more
directly, an association was also observed between the presence of a PTEN
mutation and malignant breast disease. Secondly, there appeared to be an
interdependent association between mutations upstream and within the PTPase
core motif, the core motif containing the majority of missense mutations,
and the involvement of all major organ systems (central nervous system,
thyroid, breast, skin and gastrointestinal tract). However, these
observations would need to be confirmed by studying a larger number of CD
families.
相似文献
54.
Fernando de Ory José Manuel Echevarría George Kafatos Cleo Anastassopoulou Nick Andrews Josephine Backhouse Guy Berbers Blazena Bruckova Daniel I Cohen Hester de Melker Irja Davidkin Giovanni Gabutti Louise M Hesketh Kari Johansen Sari Jokinen Lindsay Jones Anika Linde Elisabeth Miller Jo?l Mossong Anthony Nardone Maria Cristina Rota Andreas Sauerbrei Fran?ois Schneider Zahava Smetana Annedore Tischer Athanassios Tsakris Robert Vranckx 《Journal of clinical virology》2006,36(2):111-118
BACKGROUND: The aim of the European Sero-Epidemiology Network (ESEN2) is to harmonise the serological surveillance of vaccine-preventable diseases in Europe. OBJECTIVE: To allow comparison of antibody prevalence in different countries by standardising results into common units. STUDY DESIGN: For varicella zoster virus (VZV), a reference laboratory established a panel of 148 samples, characterised by indirect enzyme-immunoassay (ELISA), indirect immunofluorescence, and complement fixation test. Fifty-seven samples were also studied by the fluorescence antibody to membrane antigen test. The geometric mean of the antibody activity (GMAA) obtained from four ELISA determinations was used to characterise each sample of the panel as positive (GMAA: >100 mIU/ml), equivocal (GMAA: 50-100 mIU/ml) or negative (GMAA: <50 mIU/ml) for antibody to VZV (anti-VZV). Thirteen laboratories, using five different ELISA tests, tested the panel. RESULTS: Agreement with the reference laboratory was above 85% in all cases, and the R(2) values obtained from regression analysis of the quantitative results were always higher than 0.87. Finally, the regression equations could be used to convert national values into a common unitage. CONCLUSION: This study confirmed that results for anti-VZV obtained by different ELISA methods can be converted into common units, enabling the comparison of the seroprevalence profiles obtained in the participant countries. 相似文献
55.
The influence of the presence of the male on the ovulation process was investigated in ewes after oestrus control by progestagens (intravaginal fluorogestone acetate) and PMSG. Permanent contact with the rams throughout oestrus accelerates the ovulation and the appearance of the LH surge. The results suggest that the action of the presence of the male on ovulation is mediated by way of the ovulatory surge of LH. 相似文献
56.
57.
Home monitoring of blood pressure: usefulness as a predictor of persistent hypertension 总被引:1,自引:0,他引:1
We set out to test the hypothesis that home blood pressure reflects "baseline" pressures measured at a general practitioner's surgery or in a hospital outpatient clinic. Twenty patients detected hypertensive during screening in general practice and 30 patients referred to a hospital hypertension clinic for revision of therapy were studied. All were instructed in the use of an electronic semiautomatic sphygmomanometer and measured blood pressure at home for a three day period. Home monitored blood pressure correctly predicted those patients whose diastolic blood pressure fell to below 95 mmHg by the third clinic visit in approximately 90% of all patients. In addition, in those whose blood pressure was high at home it remained so at the clinic or surgery after three visits. These data suggest that home monitoring of blood pressure may be a helpful alternative to repeated clinic visits before embarking on medical therapy. 相似文献
58.
Dylan J. Jester Lindsay J. Peterson David M. Dosa Kathryn Hyer 《Journal of the American Medical Directors Association》2021,22(6):1317-1321.e2
ObjectivesTo report the initial compliance with new infection control regulations and geographic disparities in nursing homes (NHs) in the United States.DesignRetrospective cohort study from November 27, 2017 to November 27, 2019.Setting and ParticipantsIn total, 14,894 NHs in the continental United States comprising 26,201 inspections and 176,841 deficiencies.MethodsWe measured the cumulative incidence of receiving F880: Infection Prevention and Control deficiencies, geographic variability of F880 citations across the United States, and the scope and severity of the infection control deficiencies.ResultsA total of 6164 NHs (41%) in the continental United States received 1 deficiency for F880, and 2300 NHs (15%) were cited more than once during the 2-year period. Geographic variation was evident for F880 deficiencies, ranging from 20% of NHs in North Carolina to 79% of NHs in West Virginia. Between 0% (Vermont) and 33% (Michigan) of states’ NHs were cited multiple times over 2 years. Facilities receiving 2 or more F880 deficiencies were more reliant on Medicaid, for-profit, and served more acute residents. Infection Prevention and Control deficiencies were of similar severity but of greater scope in NHs that were cited multiple times.Conclusions and ImplicationsAs the coronavirus disease 2019 pandemic challenges hospitals with an increased surge of patients from the community, NHs will be asked to accept convalescing patients who were previously infected with the virus. NHs will need to rely on infection control practices to mitigate the effects of the virus in their facilities. Particular attention to NHs that have fared poorly with repeat infection control practices deficiencies might be a good first step to improving care overall and preventing downstream morbidity and mortality among the highest-risk patients. 相似文献
59.
Lindsay H. Dewa Caroline Crandell Elizabeth Choong Jack Jaques Alex Bottle Catherine Kilkenny Anna Lawrence-Jones Martina Di Simplicio Dasha Nicholls Paul Aylin 《The Journal of adolescent health》2021,68(4):666-675
PurposeExploring the impact of the COVID-19 pandemic on young people’s mental health is an increasing priority. Studies to date are largely surveys and lack meaningful involvement from service users in their design, planning, and delivery. The study aimed to examine the mental health status and coping strategies of young people during the first UK COVID-19 lockdown using coproduction methodology.MethodsThe mental health status of young people (aged 16–24) in April 2020 was established utilizing a sequential explanatory coproduced mixed methods design. Factors associated with poor mental health status, including coping strategies, were also examined using an online survey and semi-structured interviews.ResultsSince the lockdown, 30.3% had poor mental health, and 10.8% had self-harmed. Young people identifying as Black/Black-British ethnicity had the highest increased odds of experiencing poor mental health (odds ratio [OR] 3.688, 95% CI .54–25.40). Behavioral disengagement (OR 1.462, 95% CI 1.22–1.76), self-blame (OR 1.307 95% CI 1.10–1.55), and substance use (OR 1.211 95% CI 1.02–1.44) coping strategies, negative affect (OR 1.109, 95% CI 1.07–1.15), sleep problems (OR .915 95% CI .88–.95) and conscientiousness personality trait (OR .819 95% CI .69–.98) were significantly associated with poor mental health. Three qualitative themes were identified: (1) pre-existing/developed helpful coping strategies employed, (2) mental health difficulties worsened, and (3) mental health and nonmental health support needed during and after lockdown.ConclusionPoor mental health is associated with dysfunctional coping strategies. Innovative coping strategies can help other young people cope during and after lockdowns, with digital and school promotion and application. 相似文献
60.
Hannah R. Meredith Emerson Arehart Kyra H. Grantz Alexander Beams Theresa Sheets Richard Nelson Yue Zhang Russell G. Vinik Darryl Barfuss Jacob C. Pettit Keegan McCaffrey Angela C. Dunn Michael Good Shannon Frattaroli Matthew H. Samore Justin Lessler Elizabeth C. Lee Lindsay T. Keegan 《Emerging infectious diseases》2021,27(5):1259
The coronavirus disease pandemic has highlighted the key role epidemiologic models play in supporting public health decision-making. In particular, these models provide estimates of outbreak potential when data are scarce and decision-making is critical and urgent. We document the integrated modeling response used in the US state of Utah early in the coronavirus disease pandemic, which brought together a diverse set of technical experts and public health and healthcare officials and led to an evidence-based response to the pandemic. We describe how we adapted a standard epidemiologic model; harmonized the outputs across modeling groups; and maintained a constant dialogue with policymakers at multiple levels of government to produce timely, evidence-based, and coordinated public health recommendations and interventions during the first wave of the pandemic. This framework continues to support the state’s response to ongoing outbreaks and can be applied in other settings to address unique public health challenges. 相似文献