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1.
F. Auber S. Lortat-Jacob S. Sarnacki F. Jaubert R. Salomon E. Thibaud C. Jeanpierre C. Nihoul-Feacutekeacuteteacute 《Journal of pediatric surgery》2003,38(1):124-129
Background/Purpose: The WT1 gene plays a role in urogenital and gonadal development. Germline mutations of this gene have been observed in patients with Drash or Frasier syndrome (Sd). The purpose of this report is to compare phenotype and genotype of these patients. Methods: Retrospective study of 12 patients treated since 1980 for WT1 gene[ndash ]related disorders was conducted. Results: End-stage renal disease (ESRD) occurred in 9 patients, mostly because of diffuse mesangial sclerosis (DMS) or focal and segmental glomerular sclerosis (FSGS). Seven patients underwent kidney transplantation, and 2 died. Eleven tumors occurred: 8 Wilms' tumors, one soft tissue tumor, one bladder papilloma, and one gonadoblastoma. Wilms' tumors occurred at a younger age than expected. Eight patients had a 46,XY karyotype. One of these XY patients had female phenotype (Frasier syndrome); she was raised as a girl with bilateral gonadectomy. Seven XY patients had ambiguous phenotype; 4 have been raised as boys and 3 as girls. Four patients had a 46,XX karyotype; they had female genitalia and were raised as girls. WT1 gene analysis was performed in 10 patients and showed heterozygous germline mutations in exon 9 (n = 6), intron 9 (n = 1), exon 3 (n = 1), exon 4 (n = 1), or exon 7 (n = 1). Conclusions: ESRD was secondary to DMS when exon 9 was mutated, and secondary to FSGS when intron 9 was mutated. When exon 3, 4, and 7 were mutated, no nephropathy has been observed. Wilms' tumors occurred with any kind of WT1 mutation except intron 9. Abnormal sexual differentiation has been observed in all XY patients with WT1 mutation, and the most profound inversion of phenotype was observed with mutation in intron 9. Correlation between phenotype and genotype provides better understanding of the role of WT1, and can help the surgeon in the management of these patients. J Pediatr Surg 38:124-129. 相似文献
2.
Marie Jos& eacute Lahoud Hampig Raphael Kourie Joelle Antoun Lana El Osta Marwan Ghosn 《World journal of gastrointestinal oncology》2016,8(8):599-606
Beside its poor prognosis and its late diagnosis, pancreatic cancer remains one of the most painful malignancies. Optimal management of pain in this cancer represents a real challenge for the oncologist whose objective is to ensure a better quality of life to his patients. We aimed in this paper to review all the treatment modalities incriminated in the management of pain in pancreatic cancer going from painkillers, chemotherapy, radiation therapy and interventional techniques to agents under investigation and alternative medicine. Although specific guidelines and recommendations for pain management in pancreatic cancer are still absent, we present all the possible pain treatments, with a progression from medical multimodal treatment to radiotherapy and chemotherapy then interventional techniques in case of resistance. In addition, alternative methods such as acupuncture and hypnosis can be added at any stage and seems to contribute to pain relief. 相似文献
3.
Antonio Pereira-Vega Jos& eacute Luis S& aacute nchez-Ramos 《World Journal of Respirology》2015,5(3):180-187
The study of asthma in fertile women needs to consider its potentially recurrent exacerbation in a specific phase of the menstrual cycle. Premenstrual asthma (PMA) refers to the deterioration of asthma in some women of fertile age during the premenstrual phase. Prevalence varies considerably according to studies (11%-47.44%) mainly because there is no standardized definition of the illness. There is a possible link between PMA and premenstrual syndrome, which is a set of physical and psychic manifestations that occur in some fertile women during the same premenstrual phase. This relation has been widely studied but there are still several unknowns. PMA etiopathogeny is not known. It involves possible causes such as hormonal variations in the premenstrual phase, the coexistence of atopy, variations during the cycle in substances related to inflammation, like LTC4 leukotrienes, catecholamines, E2 and F2α prostaglandins and certain cytokines. Also considered are psychological factors related to this phase of the menstrual cycle, a high susceptibility to infection or increased bronchial hyperreactivity prior to menstruation. Yet no factor fully explains its etiology, consequently no specific treatment exists. Researchers have investigated hormones, anti-leukotrienes, prostaglandin synthesis inhibitors, diuretics, phytoestrogens and alternative therapies, but none has been shown to be effective. 相似文献
4.
Ar& aacute nzazu Portillo Jos& eacute A Oteo 《World Journal of Clinical Infectious Diseases》2015,5(3):51-54
Tick-borne diseases (TBDs) are a major public health concern that has increased in the past three decades. Nevertheless, emerging or reemerging TBDs may be still misdiagnosed. Molecular biology techniques for the screening of ticks, use of “Omics” approaches and the incorporation of analytical methods such as mass spectrometry or nuclear magnetic resonance, to the study of ticks and their associated pathogens or potential pathogens are promising tools for a more accurate differential diagnosis of TBDs. However, this huge amount of data needs to be carefully interpreted before being incorporated to the routine of clinical practice. In the meantime, a clinical approach and high level of suspicion keep being essential for the diagnosis and proper handling of TBDs. 相似文献
5.
Christophe Demoulin Olivier Bruy& egrave re Pierre-Ren& eacute Somville Marc Vanderthommen 《World Journal of Meta-Analysis》2015,3(2):93-96
The systematic reviews (SRs) including a meta-analysis are considered as the top level of evidence. Although the existence of more than a hundred of low back pain (LBP)-related SRs seems very appealing and might therefore suggest significant evidence on the topic, a deep analysis indicates that several of these SRs included only very few studies. Other SRs raise concerns because they included some randomized controlled trials which had a low methodological quality, or some studies which differed significantly regarding the studied populations and/or the experimental procedure. The sometimes controversial results of different SRs conducted on the same topic also highlight the significant influence of the inclusion/exclusion criteria used in the SRs to select the articles. To conclude, although meta-analysis is at the top of the evidence pyramid and have several strengths, the conclusions drawn from SRs should always be interpreted with caution because they can also have weaknesses. This is true, whether it be for LBP-related SRs including a meta-analysis, or any other. Therefore a critical analysis of any SR is always needed before integrating the results of the SR in its own clinical practice. Furthermore, clinical reasoning remains crucial, especially to consider the potential differences between one’s patient and the patients included in the meta-analysis. 相似文献
6.
Adri& agrave Arboix Mar& iacute a Jos& eacute S& aacute nchez Josep Llu& iacute s Mart& iacute -Vilalta 《World Journal of Neurology》2013,3(4):129-132
Pure motor stroke (PMS), also known as pure motor hemiparesis, is the most common of any lacunar form (between one half and two thirds of cases, depending on the series). In an acute stroke registry, 733 patients presented a lacunar infarct and PMS accounted for 12.7% (n = 342) of all first-ever stroke patients and for 48% of all lacunar syndromes. The posterior limb of the internal capsule, corona radiata, and pons are the most frequent brain topographies. Infarcts in the mesencephalus or medullary pyramid have been exceptionally reported. This present update is focused on the clinical evidence and mechanisms underlying the relationship between PMS and different stroke etiologies. 相似文献
7.
Nana Munlemvo Mavanga Fran& ccedil ois Boemer Laurence Seidel r& eacute Nkebolo Malafu r& eacute Gothot Christiane Gerard 《World Journal of Hematology》2013,2(4):109-114
AIM: To study frequency of blood groups, prevalence of sickle-cell anemia trait and glucose-6-phosphate dehydrogenase deficiency (G6PD), among consanguineous Yansi tribe.
METHODS: A total of 525 blood samples were collected, of which 256 among the Yansi population, and 269 for the unrelated control group in the Bandundu province of Democratic Republic of Congo. Blood group antigens were determined in the following systems: ABO, Rh, Kell, Duffy, Kidd and MNS. Blood grouping and extended phenotype tests were performed according to standard immunohematological procedures. Spot tests and tandem mass spectrometry were used respectively for the assessment of G6PD and sickle-cell anemia trait.
RESULTS: The frequency of ABO phenotypes conformed to the following order O>A>B>AB with notably 62.5%, 23.8%, 12.1% and 1.6% for the Yansi, and 54.6%, 27.5%, 14.1% and 3.7% for the unrelated control group, respectively (P = 0.19). As for the Rh phenotypes, the most frequent were ccD.ee, ccD.Ee, CcD.ee, corresponding to 71.5%, 12.1% and 12.1% for the Yansi, and 70.6%, 15.6% and 8.2%, for the unrelated control group (P = 0.27). The frequency of MN and Ss phenotypes were statistically different between groups (P = 0.0021 and P = 0.0006). G6PD was observed in 11.3% of subjects in the Yansi group, and in 12.4% of controls (P = 0.74). The sickle-cell anemia trait was present in 22.4% of Yansi subjects and 17.8% in the control group (P = 0.24). Miscarriages and deaths in young age were more common among Yansi people.
CONCLUSION: This study shows a significant difference in MNS blood group distribution between the Yansi tribe and a control population. The distribution of other blood groups and the prevalence of hemoglobinopathies did not differ in the Yansi tribe. 相似文献
8.
Francisco Javier Acosta Jos& eacute Luis Hern& aacute ndez Jos& eacute Pereira Judit Herrera Carlos J Rodr& iacute guez 《World Journal of Psychiatry》2012,2(5):74-82
Non-adherence is a major problem in the treatment of schizophrenia. Its high prevalence, potentially severe consequences and associated costs make the study of this phenomenon a priority issue. In this article, basic non-adherence concepts of prevalence, consequences, evaluation methods, methodological restrictions of available studies, risk factors and intervention strategies, are reviewed. Studying non-adherence risk factors is a necessary step toward designing adequately oriented intervention strategies. An operative definition of adherence and good knowledge of its evaluation methods are essential to study this phenomenon. Unfortunately, most available studies contain methodological restrictions, especially concerning the evaluation methods, and an agreed operative definition of adherence has only very recently been reached. Knowing non-adherence risk factors, intervention strategies and available evidence on their effectiveness is essential in making treatment decisions in daily clinical practice. 相似文献
9.
Jos& eacute Carlos Mar& iacute n-Gabriel Gloria Fern& aacute ndez-Esparrach Jos& eacute D& iacute az-Tasende Alberto Herreros de Tejada 《World journal of gastrointestinal endoscopy》2016,8(2):40-55
Over the last few years, endoscopic submucosal dissection (ESD) has shown to be effective in the management of early colorectal neoplasms, particularly in Asian countries where the technique was born. In the Western world, its implementation has been slow and laborious. In this paper, the indications for ESD, its learning model, the available methods to predict the presence of deep submucosal invasion before the procedure and the published outcomes from Asia and Europe will be reviewed. Since ESD has several limitations in terms of learning achievement in the West, and completion of the procedure for the first cases is difficult in our part of the world, a short review on colorectal assisted ESD has been included. Finally, other endoscopic and surgical treatment modalities that are in competition with colorectal ESD will be summarized. 相似文献
10.