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排序方式: 共有156条查询结果,搜索用时 421 毫秒
1.
Hao Wang Ingeborg Barisic Maria Loane Marie‐Claude Addor Linda M. Bailey Miriam Gatt Kari Klungsoyr Olatz Mokoroa Vera Nelen Amanda J. Neville Mary O'Mahony Anna Pierini Anke Rissmann Christine Verellen‐Dumoulin Hermien E.K. de Walle Awi Wiesel Katarzyna Wisniewska Lolkje T.W. de Jong‐van den Berg Helen Dolk Babak Khoshnood Ester Garne 《American journal of medical genetics. Part A》2019,179(4):595-601
We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995–2011. Cases without chromosomal anomalies born during 2005–2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10–1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05–1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90–0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population‐based study found a decreasing trend of congenital clubfoot in Europe after 1999–2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT. 相似文献
2.
Atomic absorption spectrophotometry (AAS) for the evaluation of metallosis in prostheses and artificial organs: a new approach. 总被引:1,自引:0,他引:1
G Pierini M Fini G Giavaresi S Dallari M Brayda Bruno M Rocca N Nicoli Aldini R Giardino 《The International journal of artificial organs》1999,22(7):522-527
To study the presence of metals in body fluids and tissues after implantation of metallic biomaterials and possible related diseases, a new approach in Atomic Absorption Spectrophotometry (AAS) was developed. This technique was compared to three traditional methods: mineralisation with acid digestion (method A) also known as "wet method", dry ashing (with or without oxygen) (method B); classic Kjeldaal (method C). The new approach (method D) modifies the mineralisation phase and the instrument operating instructions. Al, Na, Cr, K, Ni, Co, Ti, Fe, Hg, Pb, V, Sb and Cu levels were tested with the four methods on bone, muscle, cartilage, skin, brain, lymph nodes, blood, urine, and hair. Test results were checked by the addition method. Results demonstrated a significantly higher percentage of Al, Cr, Ni, Ti and Hg recovery with the new approach. The advantages of method D are no residue, no redox reaction, insignificant loss of analytes and enhanced sensitivity (at ppb level vs ppm of the other methods). This approach should be considered especially when testing heavy metals and complex matrices. Its disadvantages are that it is more time consuming and requires the presence of an operator. 相似文献
3.
Antiepileptic drug prescribing before,during and after pregnancy: a study in seven European regions 下载免费PDF全文
4.
Promoter hypermethylation of CDKN2A,MGMT, MLH1, and DAPK genes in laryngeal squamous cell carcinoma and their associations with clinical profiles of the patients 下载免费PDF全文
5.
Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene,is associated with autism and macrocephaly 下载免费PDF全文
6.
Alessio Coi Michele Santoro Ester Garne Anna Pierini Marie‐Claude Addor Jean‐Luc Alessandri Jorieke E. H. Bergman Fabrizio Bianchi Ljubica Boban Paula Braz Clara Cavero‐Carbonell Miriam Gatt Martin Haeusler Kari Klungsøyr Jennifer J. Kurinczuk Monica Lanzoni Nathalie Lelong Karen Luyt Olatz Mokoroa Carmel Mullaney Vera Nelen Amanda J. Neville Mary T. O'Mahony Isabelle Perthus Judith Rankin Anke Rissmann Florence Rouget Bruno Schaub David Tucker Diana Wellesley Katarzyna Wisniewska Nataliia Zymak‐Zakutnia Ingeborg Barišić 《American journal of medical genetics. Part A》2019,179(9):1791-1798
Achondroplasia is a rare genetic disorder resulting in short‐limb skeletal dysplasia. We present the largest European population‐based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. All cases of achondroplasia notified to 28 EUROCAT registries (1991–2015) were included in the study. Prevalence, birth outcomes, prenatal diagnosis, associated anomalies, and the impact of paternal and maternal age on de novo achondroplasia were presented. The study population consisted of 434 achondroplasia cases with a prevalence of 3.72 per 100,000 births (95%CIs: 3.14–4.39). There were 350 live births, 82 terminations of pregnancy after prenatal diagnosis, and two fetal deaths. The prenatal detection rate was significantly higher in recent years (71% in 2011–2015 vs. 36% in 1991–1995). Major associated congenital anomalies were present in 10% of cases. About 20% of cases were familial. After adjusting for maternal age, fathers >34 years had a significantly higher risk of having infants with de novo achondroplasia than younger fathers. Prevalence was stable over time, but regional differences were observed. All pregnancy outcomes were included in the prevalence estimate with 80.6% being live born. The study confirmed the increased risk for older fathers of having infants with de novo achondroplasia. 相似文献
7.
Ricchiuti A Brunati A Mirabella S Pierini A Franchello A Salizzoni M 《Transplantation proceedings》2005,37(6):2569-2570
AIM: Our goal was to evaluate the outcome of HCV(+) recipients after liver transplantation (LT) using HCV(+) donors and the interaction between donor and recipient viral strain. METHODS: We performed a retrospective analysis of 21 LT performed between 1998 and 2004 using livers from HCV(+) donors in HCV(+) recipients. Two hundred thirty-seven patients with HCV cirrhosis who underwent LT with livers from HCV(-) donors were the control group. Ishak score (IS) was evaluated for all HCV(+) grafts. The considered variables included donor age, hepatic enzymes, intensive care unit stay, HCV genotype, ischemia time, recipient age, UNOS status, Child score, HCV genotype (before and 6 months after LT) and IS (after LT). We analyzed patient, graft, and disease-free survival. RESULTS: HCV(+) donors were significantly older than HCV(-) donors. The cumulative 5-year patient and graft survivals and disease free intervals were not different between groups. IS grading was more than 2/18 in two cases; the only graft with a staging score over 2/6 was retransplanted for early nonfunction. In two cases, different HCV genotypes were matched and donor strain took over the recipient strain. In one patient, donor genotyping 2a-2c took over recipient genotyping 1b and 9 months after LT recurrent hepatitis was documented, but antiviral therapy cleared HCV. CONCLUSIONS: Livers from HCV(+) donors can safely be used in HCV(+) recipients. Hepatic biopsy must always be performed; livers with bridging fibrosis should not be used. The takeover of one strain by another may change the prognosis of the patient if the predominant strain is more sensitive to antiviral therapy. 相似文献
8.
9.
Maria Cristina Roberti Roberta La Starza Cecilia Surace Pietro Sirleto Rita Maria Pinto Valentina Pierini Barbara Crescenzi Cristina Mecucci Adriano Angioni 《Virchows Archiv : an international journal of pathology》2009,454(3):311-316
In this study, we report the molecular cytogenetic characterization of an acute myeloid leukemia with a der(Y)t(Y;1)(q12;q25)
in bone marrow cells in a child with Klinefelter syndrome. Conventional cytogenetics demonstrated the unbalanced translocation,
i.e., a trisomic 1q25-qter juxtaposed to Yq12 replaced the terminal segment of chromosome Y was acquired and present only
on bone marrow cells. Fluorescence in situ hybridization showed that the breakpoint at 1q25 disrupted RABGAP1L, a strongly expressed gene in CFU-GEMM, erythroid cells, and megakaryocytes, while the Yq12 breakpoint fell within the heterochromatic
region. As der(Y)t(Y;1)(q12;q25) was an isolated cytogenetic change, RABGAP1L rearrangement as well as gene(s) dosage effects correlated to 1q25-qter trisomy, and Yq12-qter loss may make a major contribution
to leukemogenesis and/or disease progression.
Maria Cristina Roberti and Roberta La Starza should be regarded as joint first authors. 相似文献
10.
Pierini V Nofrini V La Starza R Barba G Vitale A Di Raimondo F Matteucci C Crescenzi B Elia L Gorello P Storlazzi CT Mecucci C 《Cancer genetics》2011,204(10):563-568
In an adult case of B-cell acute lymphoblastic leukemia (B-ALL) with a complex karyotype, both chromosomes 14 were involved in unbalanced rearrangements, specifically, der(14)t(13;14)(q21;q21) and dup(14)(q11q32). Fluorescence in situ hybridization (FISH) detected two CEBPE-IGH rearrangements at the dup(14). One was found at the duplication breakpoint and the other derived from insertion of CEBPE into an apparently normal IGH locus. Hypotheses to account for these unusual chromosomal rearrangements are discussed. This case provides the first evidence that chromosome duplication and cryptic insertion produce the CEBPE-IGH fusion and that more than one CEBPE-IGH recombination can occur in a leukemic cell. Our findings confirm that deregulated CEBPE plays a crucial role in the pathogenesis of CEBPE-IGH positive B-ALL. 相似文献