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101.
Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC) 总被引:1,自引:1,他引:1
Kelsell DP; Risk JM; Leigh IM; Stevens HP; Ellis A; Hennies HC; Reis A; Weissenbach J; Bishop DT; Spurr NK; Field JK 《Human molecular genetics》1996,5(6):857-860
Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar
ectodermal dysplasia type III) is associated with oesophageal cancer in
three families: two large pedigrees located in Liverpool, UK and in the
midwestern American states and one smaller family from Germany. In these
families, the PPK is inherited as autosomal dominant and has a late onset,
usually manifesting between 7 and 8 years of age. The disease is
characterised by thickening of the pressure areas of the soles, but is not
restricted to the feet and also presents with oral leukokeratosis and
follicular hyperkeratosis. The disease locus [previously termed the
"tylosis oesophageal cancer gene' (TOC) locus] has been mapped to
17q23-qter by linkage analysis. This region is located telomeric to the
keratin 16 gene, in which mutations have been identified in focal PPK
families who show no increased cancer risk. We describe the close mapping
of this locus to the interval between AFMb054zf9 and D17S1603 using
haplotype analysis of additional Genethon markers in the region and show
that although the American family is unlikely to be related to either of
the other two, the UK and German pedigrees may share a common descent. This
work provides a basis for positional cloning and candidate gene analysis in
order to identify a gene that may be involved in familial oesophageal
cancer.
相似文献
102.
BHK Ng E Mulyadi JK Pereira S Ghedia J Pinner D Mowat M Vonau 《Journal of Medical Imaging and Radiation Oncology》2006,50(6):583-590
Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8‐week‐old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease. 相似文献
103.
A double-blind comparative study of clozapine and risperidone in the management of severe chronic schizophrenia 总被引:7,自引:0,他引:7
Azorin JM Spiegel R Remington G Vanelle JM Péré JJ Giguere M Bourdeix I 《The American journal of psychiatry》2001,158(8):1305-1313
OBJECTIVE: This prospective, double-blind, multicenter, parallel-group study compared the efficacy and safety of therapeutic doses of clozapine and risperidone in patients with severe chronic schizophrenia and poor previous treatment response. METHOD: Male or female patients aged 18-65 years who met DSM-IV criteria for schizophrenia and study requirements for poor previous treatment response (N=273) were randomly assigned to double-blind treatment with either clozapine or risperidone administered over 12 weeks in increasing increments. The primary efficacy measures were the magnitude of improvement in Brief Psychiatric Rating Scale (BPRS) and Clinical Global Impression (CGI) scores. Adverse events were recorded throughout the study. RESULTS: The magnitude of improvement in mean BPRS and CGI scores from baseline to end of the study was significantly greater in the clozapine group than in the risperidone group. Statistically significant differences in favor of clozapine were also seen for most of the secondary efficacy measures (Positive and Negative Syndrome Scale, Calgary Depression Scale, Psychotic Depression Scale, and Psychotic Anxiety Scale). The adverse event profile was similar for both treatment groups, with a lower risk of extrapyramidal symptoms in the clozapine group. CONCLUSIONS: Clozapine showed superior efficacy over risperidone in this patient population. Both treatments were equally well tolerated as demonstrated through their adverse event profiles, although as expected clozapine was associated with a lower risk of extrapyramidal symptoms than risperidone. 相似文献
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109.
Robin Z. Hayeems PhD Fiona A. Miller PhD Yvonne Bombard PhD Denise Avard PhD June Carroll MD Brenda Wilson MBChB MSc MRCP FFPH Julian Little PhD Pranesh Chakraborty MD Jessica Bytautas BA Yves Giguere MD PhD Judith Allanson MD Renata Axler MBioethics 《Health expectations》2015,18(3):419-429
Objectives
Newborn bloodspot screening (NBS) panels have expanded to include conditions for which treatment effects are less certain, creating debate about population‐based screening criteria. We investigated Canadian public expectations and values regarding the types of conditions that should be included in NBS and whether parents should provide consent.Methods
Eight focus groups (FG; n = 60) included education, deliberative discussion and pre‐/post‐questionnaires. Data were analysed quantitatively and qualitatively.Results
Quantitatively, the majority supported NBS for serious disorders for which treatment is not available (95–98, 82%). A majority endorsed screening without explicit consent (77–88%) for treatable disorders, but 62% supported unpressured choice for screening for untreatable disorders. Qualitatively, participants valued treatment‐related benefits for infants and informational benefits for families. Concern for anxiety, stigma and unwanted knowledge depended upon disease context and strength of countervailing benefits.Conclusions
Anticipated benefits of expanded infant screening were prioritized over harms, with information provision perceived as a mechanism for mitigating harms and enabling choice. However, we urge caution around the potential for public enthusiasm to foster unlimited uptake of infant screening technologies. 相似文献110.
Comparison of single-dose cefuroxime axetil with ciprofloxacin in treatment of uncomplicated gonorrhea caused by penicillinase-producing and non-penicillinase-producing Neisseria gonorrhoeae strains. 下载免费PDF全文
E M Thorpe J R Schwebke E W Hook rd A Rompalo W M McCormack K L Mussari G C Giguere J J Collins 《Antimicrobial agents and chemotherapy》1996,40(12):2775-2780
A randomized, multicenter, investigator-blind trial was conducted to compare the efficacies of cefuroxime axetil and ciprofloxacin for treatment of patients with uncomplicated gonorrhea caused by penicillinase-producing Neisseria gonorrhoeae (PPNG). A total of 832 patients (434 females and 398 males) received a single oral dose of cefuroxime axetil (1,000 mg [417 patients]) or ciprofloxacin (500 mg [415 patients]). N. gonorrhoeae was eradicated from the cervix in 114 of 118 (97%) and 118 of 119 (99%) bacteriologically evaluable females treated with cefuroxime axetil and ciprofloxacin, respectively (P = 0.213; difference, -2%; 95% confidence interval, -6 to 1%), and from the urethra in 154 of 166 (93%) and 171 of 171 (100%) bacteriologically evaluable male patients treated with cefuroxime axetil and ciprofloxacin, respectively (P < 0.001; difference, -7%; 95% confidence interval, -11 to -3%). Both treatments were effective in eradicating N. gonorrhoeae in females with rectal infections (cefuroxime axetil, 29 of 30 [97%]; ciprofloxacin, 25 of 25 [100%]; P = 1.00). In small numbers of patients, cefuroxime axetil was less effective than ciprofloxacin in treating males with pharyngeal infections (eradication in 4 of 10 and in 8 of 8 patients, respectively; P = 0.013). PPNG was eradicated from the cervix in 22 of 23 (96%) and 32 of 32 (100%) bacteriologically evaluable female patients treated with cefuroxime axetil and ciprofloxacin, respectively (P = 0.418; difference, -4%; 95% confidence interval, -13 to 4%), and from the urethra in 35 of 36 (97%) and 34 of 34 (100%) bacteriologically evaluable male patients treated with cefuroxime axetil and ciprofloxacin, respectively (P = 1.00; difference, -3%; 95% confidence interval, -8 to 3%). The incidences of drug-related adverse events were similar for the two study drugs. In summary, treatment with a single oral dose of cefuroxime axetil is as effective as treatment with a single oral dose of ciprofloxacin in eradicating PPNG from males and females with uncomplicated gonorrhea (urethral and endocervical), and both regimens are well-tolerated. However, in the present study, cefuroxime axetil was less effective than ciprofloxacin in treating urethral gonococcal infections in male patients, although both study drugs were highly effective in treating cervical gonococcal infections in female patients. 相似文献