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71.
Penile fracture is a rare injury most commonly sustained during sexual intercourse. We report the case of a 35-year-old man who presented with bilateral rupture of the corpora cavernosa and complete disruption of the urethra. A review of the literature on penile fracture is also presented. Urgent surgical exploration was performed and the injuries repaired primarily. In follow-up, the patient reported satisfactory erectile function. This case highlights the importance of early surgical repair and evaluation for concomitant urethral injuries in cases of penile fracture. 相似文献
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MA Rafiq M Ansar CR Marshall A Noor N Shaheen A Mowjoodi MA Khan G Ali M Amin‐ud‐Din L Feuk JB Vincent SW Scherer 《Clinical genetics》2010,78(5):478-483
Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin‐ud‐Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan. To date, of 13 loci with linkage to non‐syndromic autosomal recessive mental retardation (NS‐ARMR), only six genes have been established with associated mutations. Here we present our study on NS‐ARMR among the Pakistani population, where people are traditionally bound to marry within the family or the wider clan. In an exceptional, far‐reaching genetic survey we have collected more than 50 consanguineous families exhibiting clinical symptoms/phenotypes of NS‐ARMR. In the first step, nine families (MR2‐9 and MR11) with multiple affected individuals were selected for molecular genetic studies. Two families (MR3, MR4) showed linkage to already know NS‐ARMR loci. Fifteen affected and 10 unaffected individuals from six (MR2, MR6, MR7, MR8, MR9 and MR11) families were genotyped by using Affymetrix 5.0 or 6.0 single‐nucleotide polymorphism (SNP) microarrays. SNP microarray data was visually inspected by dChip and genome‐wide homozygosity analysis was performed by HomozygosityMapper. Additional mapping was performed (to exclude false‐positive regions of homozygosity called by HomozygosityMapper and dChip) on all available affected and unaffected members in seven NS‐ARMR families, using microsatellite markers. In this manner we were able to map three novel loci in seven different families originating from different areas of Pakistan. Two families (MR2, MR5) showed linkage on chromosome 2p25.3‐p25.2. Three families (MR7, MR8, and MR9) that have been collected from the same village and belong to the same clan were mapped on chromosome 9q34.3. MR11 maps to a locus on 9p23‐p13.3. Analysis of MR6 showed two positive loci, on chromosome 1q23.2‐q23.3 and 8q24.21‐q24.23. Genotyping in additional family members has so far narrowed, but not excluded the 1q locus. In summary, through this study we have identified three new loci for NS‐ARMR, namely MRT14, 15 and 16. 相似文献
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Anita Andreano Michael D. Peake Samuel M. Janes Maria Grazia Valsecchi Kathy Pritchard-Jones Jessica R. Hoag Cary P. Gross 《Journal of thoracic oncology》2018,13(7):904-914
Introduction
Although prior research has demonstrated lower lung cancer survival in England than in the United States, more detailed comparisons are needed. We conducted a population-based analysis to compare diagnostic, treatment, and survival patterns.Methods
Data from cancer registries and administrative databases were linked for older patients with a diagnosis of NSCLC in England and the United States (2008–2012). We compared patient and clinical characteristics, as well as the distribution of age-standardized receipt of treatment by stage. We compared relative survival overall by stage and treatment. Finally, we assessed the degree to which stage distribution and stage-specific survival contributed to survival differences.Results
Among patients age 66 years or older with a diagnosis of NSCLC in England (n = 86,978) and the United States (n = 84,415), the rate of pathological confirmation was 63% in England compared with 85% in the United States (a 22.2% difference [99% confidence interval: 22.8%–21.7%]). The rate of receipt of active treatment was lower in England than in the United States (46% versus 60%, for a difference of 14.0% [99% confidence interval: 13.3%–14.7%]). In England, we identified 98 excess deaths per 1000 patients with pathologically confirmed NSCLC; these additional deaths could be partially mitigated by adjusting stage at diagnosis (reduction to 54 excess deaths) or stage-specific survival (reduction to 36 excess deaths).Conclusions
Compared with patients with NSCLC in the United States, patients with NSCLC in England are less likely to present with early-stage disease and receive treatment and are more likely to die. Future work should explore whether the intensity of resources directed to diagnostic and therapeutic activity may help mitigate disparities in outcomes. 相似文献77.
78.
Yao-Kuang Wang Fu-Chen Kuo Chung-Jung Liu Meng-Chieh Wu Hsiang-Yao Shih Sophie SW Wang Jeng-Yih Wu Chao-Hung Kuo Yao-Kang Huang Deng-Chyang Wu 《World journal of gastroenterology : WJG》2015,21(40):11221-11235
Accurate diagnosis of Helicobacter pylori (H. pylori) infection is a crucial part in the effective management of many gastroduodenal diseases. Several invasive and non-invasive diagnostic tests are available for the detection of H. pylori and each test has its usefulness and limitations in different clinical situations. Although none can be considered as a single gold standard in clinical practice, several techniques have been developed to give the more reliable results. Invasive tests are performed via endoscopic biopsy specimens and these tests include histology, culture, rapid urease test as well as molecular methods. Developments of endoscopic equipment also contribute to the real-time diagnosis of H. pylori during endoscopy. Urea breathing test and stool antigen test are most widely used non-invasive tests, whereas serology is useful in screening and epidemiological studies. Molecular methods have been used in variable specimens other than gastric mucosa. More than detection of H. pylori infection, several tests are introduced into the evaluation of virulence factors and antibiotic sensitivity of H. pylori, as well as screening precancerous lesions and gastric cancer. The aim of this article is to review the current options and novel developments of diagnostic tests and their applications in different clinical conditions or for specific purposes. 相似文献
79.
AW El‐Hattab J Bournat PA Eng JBS Wu BA Walker P Stankiewicz SW Cheung CW Brown 《Clinical genetics》2011,79(6):531-538
El‐Hattab AW, Bournat J, Eng PA, Wu JBS, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. We report an ~1.3 Mb tandem duplication at Xp11.23p11.3 in an 11‐year‐old boy with pleasant personality, hyperactivity, learning and visual‐spatial difficulties, relative microcephaly, long face, stellate iris pattern, and periorbital fullness. This clinical presentation is milder and distinct from that of patients with partially overlapping Xp11.22p11.23 duplications which have been described in males and females with intellectual disability, language delay, autistic behaviors, and seizures. The duplicated region harbors three known X‐linked mental retardation genes: FTSJ1, ZNF81, and SYN1. Quantitative polymerase chain reaction from whole blood total RNA showed increased expression of three genes located in the duplicated region: EBP, WDR13, and ZNF81. Thus, over‐expression of genes in the interval may contribute to the observed phenotype. Many of the features seen in this patient are present in individuals with Williams‐Beuren syndrome (WBS). Interestingly, the SYN1 gene within the duplicated interval, as well as the STX1A gene, within the WBS critical region, co‐localize to presynaptic active zones, and play important roles in neurotransmitter release. 相似文献
80.