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1.
J Adv Nurs ; 79(10): 3956-3980, 2023 Oct.
Article En | MEDLINE | ID: mdl-37209291

AIM: To develop clinical practice recommendations for nurse-administered intramuscular injections in mental health. BACKGROUND: Intramuscular injection is the main route of long-acting injectable antipsychotics' administration that appear to improve the long-term prognosis of mental illness. Specific guidelines related to the nurse administration of intramuscular injections need to be updated and to explore not only the technical aspects of this procedure. DESIGN: A modified RAND/University of California Los Angeles (UCLA) appropriateness method Delphi study was conducted between October 2019 and September 2020. METHODS: A multidisciplinary steering committee conducted a literature review and developed a list of 96 recommendations. These recommendations were submitted in a two-round Delphi electronic survey to a panel of 49 experienced practicing nurses from five mental health hospitals in France. Each recommendation was rated for its appropriateness and applicability in clinical practice on a 9-point Likert scale. Consensus among nurses was evaluated. The steering committee discussed the results after each round and approved the final set of recommendations. RESULTS: A final set of 79 specific recommendations were accepted for their appropriateness and applicability in clinical practice. Recommendations were classified in five domains: legal and quality assurance aspects, nurse-patient relationship, hygiene, pharmacology, and injection technique. CONCLUSION: The established recommendations placed patients at the heart of the decisions concerning the intramuscular injection and underlined the need for specific training programs. Future research should focus on the integration of these recommendations in clinical practice, by both before-and-after studies and regular assessments of professional practices with relevant indicators. IMPACT: The recommendations developed for good nursing practices explored not only the technical aspects but integrated the nurse-patient relationship. These recommendations may impact usual practices of administration of long-acting injectable antipsychotics and most of them could be applied in many countries. NO PATIENT OR PUBLIC CONTRIBUTION: Due to the study design.


Antipsychotic Agents , Mental Disorders , Humans , Mental Health , Injections, Intramuscular , Delphi Technique , Antipsychotic Agents/therapeutic use
2.
BMJ Open ; 13(2): e060337, 2023 02 16.
Article En | MEDLINE | ID: mdl-36797021

INTRODUCTION: Rural residence appears to be a factor of vulnerability among pregnant women with poor clinical antenatal care. Our principal objective is to assess the impact of an infrastructure for a mobile antenatal care clinic on the completion of antenatal care for women identified as geographically vulnerable in a perinatal network. METHODS AND ANALYSIS: Controlled cluster-randomised study in two parallel arms comparing an intervention group with an open-label control group. This study will concern the population of pregnant women who must live in one of the municipalities covered by the perinatal network and considered to be an area of geographic vulnerability. The cluster randomisation will take place according to the municipality of residence. The intervention will be the implementation of pregnancy monitoring by a mobile antenatal care clinic. The completion of antenatal care between the intervention and control groups will be a binary criterion: 1 will be attributed to each antenatal care that includes all visits and supplementary examinations. Sample size has been estimated to be 330 at least with an 80% participation rate.The univariate analyses will compare the follow-up rates (with Fisher's exact test), and all individual characteristics collected (Fisher's exact test, Student's t-test) between the two groups. The multivariate analysis will use a mixed linear model analysis and consider the cluster effect as random; the initial model will include known confounders from the literature, confounders identified in univariate analyses, and the clinically relevant prognostic factors. All of these factors will be taken into account in the model as a fixed effect. ETHICS AND DISSEMINATION: The Patient Protection Committee North-West II approved this study on 4 February 2021 (IRB 2020-A02247-32). The results will be the subject of scientific communications and publications. TRIAL REGISTRATION NUMBER: NCT04823104.


Parturition , Prenatal Care , Pregnancy , Female , Humans , Prenatal Care/methods , Follow-Up Studies , Pregnant Women , Research Design , Randomized Controlled Trials as Topic
3.
BMC Psychiatry ; 21(1): 284, 2021 06 02.
Article En | MEDLINE | ID: mdl-34074271

BACKGROUND: The onset of COVID-19 required rapid organisational changes in the mental health domain. Most mental health-care departments appear to have set up infection control measures and also organised planning, coordination and measures that enabled them to provide psychiatric care in a restrictive environment. Our objective was to assess the organisation by psychiatric facilities in France of their response to COVID-19, during the first wave. METHODS: In June 2020, a cross-sectional study was performed by an audit with 48 items which was proposed to 331 hospitals in metropolitan France with a capacity for full-time, that is, inpatient psychiatric hospitalisation of adults. RESULTS: Of the 331 establishments contacted, 94 (28.4%) agreed to respond to the survey questionnaire. Full-time inpatient hospitalisation was completely or partially maintained by 94.7% (n = 89) of facilities. Specific measures concerning respect for patients' rights were reported by 58% (n = 55) of establishments. Overall, 74.5% (n = 70) had set up a dedicated channel of care for patients at risk of severe COVID-19, and 52.1% (n = 49) a system for routine screening at admission for these risk factors. Nearly half the establishments (48.9%, n = 46) reported they had set up specific training programmes for patients about barrier measures and social distancing. CONCLUSIONS: French psychiatric establishments on the whole were able to provide a necessary reorganisation of their management of patients and their families, regardless of facility status. Patients' rights nonetheless seem to have not received the attention they merited during the early pandemic period. Somatic management of patients with mental illness must absolutely be improved.


COVID-19 , Adult , Cross-Sectional Studies , France/epidemiology , Humans , Pandemics , SARS-CoV-2
4.
J Clin Psychiatry ; 82(4)2021 05 18.
Article En | MEDLINE | ID: mdl-34010524

BACKGROUND: Female sex/gender has been associated with better longitudinal outcomes in schizophrenia spectrum disorders (SSDs). Few studies have investigated the relationships between female gender and recovery-related outcomes. Women's specific psychiatric rehabilitation needs remain largely unknown. OBJECTIVE: The objectives of the present study are to investigate sex differences in (1) objective and subjective aspects of recovery and (2) psychiatric rehabilitation needs in a multicenter non-selected psychiatric rehabilitation SSD sample. METHODS: 1,055 outpatients with SSD (DSM-5) were recruited from the French National Centers of Reference for Psychiatric Rehabilitation (REHABase) cohort between January 2016 and November 2019. Evaluation included standardized scales for quality of life, satisfaction with life, and well-being and a broad cognitive battery. Socially valued roles at enrollment were recorded. Functional recovery was measured using the Global Assessment of Functioning scale (GAF) and personal recovery with the Stages of Recovery Instrument (STORI). RESULTS: Female sex was the best predictor of having more than 2 socially valued roles in the multivariate analysis (P < .001; OR [95% CI] = 5.42 [2.34-13.06]). No sex differences were found for functional recovery or personal recovery. Female gender was positively associated with self-stigma (P = .036) and suicidal history (P < .001) and negatively correlated with quality of life (P = .004) and satisfaction with interpersonal relationships (P = .029), an area in which women reported more unmet needs (P = .004). CONCLUSIONS: The present study found that women had poorer subjective recovery-related outcomes and more unmet needs than men. It would therefore be beneficial to develop recovery-oriented interventions addressing women's specific needs and implement these in psychiatric rehabilitation services.


Schizophrenia/rehabilitation , Sex Factors , Adult , Cohort Studies , Female , France , Humans , Male , Middle Aged , Psychiatric Rehabilitation/statistics & numerical data , Quality of Life , Social Stigma
6.
Commun Biol ; 3(1): 673, 2020 11 13.
Article En | MEDLINE | ID: mdl-33188250

The synthesis of 3,5-dicaffeoylquinic acid (3,5-DiCQA) has attracted the interest of many researchers for more than 30 years. Recently, enzymes belonging to the BAHD acyltransferase family were shown to mediate its synthesis, albeit with notably low efficiency. In this study, a new enzyme belonging to the GDSL lipase-like family was identified and proven to be able to transform chlorogenic acid (5-O-caffeoylquinic acid, 5-CQA, CGA) in 3,5-DiCQA with a conversion rate of more than 60%. The enzyme has been produced in different expression systems but has only been shown to be active when transiently synthesized in Nicotiana benthamiana or stably expressed in Pichia pastoris. The synthesis of the molecule could be performed in vitro but also by a bioconversion approach beginning from pure 5-CQA or from green coffee bean extract, thereby paving the road for producing it on an industrial scale.


Ipomoea batatas , Lipase/metabolism , Plant Proteins/metabolism , Quinic Acid/analogs & derivatives , Recombinant Proteins/metabolism , Ipomoea batatas/enzymology , Ipomoea batatas/genetics , Lipase/chemistry , Lipase/genetics , Plant Proteins/chemistry , Plant Proteins/genetics , Quinic Acid/metabolism , Recombinant Proteins/chemistry , Recombinant Proteins/genetics , Saccharomycetales/genetics , Saccharomycetales/metabolism
7.
Eur Psychiatry ; 63(1): e41, 2020 04 30.
Article En | MEDLINE | ID: mdl-32349835

BACKGROUND: Functional capacity (FC) has been identified as a key outcome to improve real-world functioning in schizophrenia. FC is influenced by cognitive impairments, negative symptoms, self-stigma and reduced physical activity (PA). Psychosocial interventions targeting FC are still under-developed. METHODS: we conducted a quasi-experimental study evaluating the effects of an exercise-enriched integrated social cognitive remediation (SCR) intervention (RemedRugby [RR]) compared with an active control group practicing Touch Rugby (TR). To our knowledge, this is the first trial to date evaluating the effectiveness of such a program provided in a real-life environment. RESULTS: Eighty-seven people with schizophrenia were included and allocated to either the RR group (n = 57) or the TR group (n = 30) according to the routine clinical practice of the recruiting center. Outcomes were evaluated at baseline and post-treatment in both groups and after 6 months of follow-up in the RR group using standardized scales for symptom severity, social functioning, self-stigma, and a large cognitive battery. After treatment we observed moderate to large improvements in social function (Personal and Social Performance Scale [PSP], p < 0.001, d = 1.255), symptom severity (Positive and Negative Syndrome Scale [PANSS] negative, p < 0.001, d = 0.827; PANSS GP, p < 0.001, d = 0.991; PANSS positive, p = 0.009, d = 0.594), verbal abstraction (p = 0.008, d = 0.554), aggression bias (p = 0.008, d = 0.627), and self-stigma (stereotype endorsement, p = 0.019, d = 0.495; discrimination experiences, p = 0.047; d = 0.389) that were specific to the RR group and were not observed in participants playing only TR. Effects were persistent over time and even larger between post-treatment and follow-up. CONCLUSIONS: Exercise-enriched integrated SCR appears promising to improve real-life functioning in schizophrenia. Future research should investigate the potential effects of this intervention on neuroplasticity and physical fitness.


Cognitive Remediation/methods , Exercise Therapy , Schizophrenia/physiopathology , Schizophrenia/rehabilitation , Social Behavior , Social Skills , Adult , Combined Modality Therapy , Female , Follow-Up Studies , Humans , Male
8.
J Clin Nurs ; 28(17-18): 3310-3317, 2019 Sep.
Article En | MEDLINE | ID: mdl-31070824

BACKGROUND: Intramuscular injections (IMIs) remain a frequent practice in mental health. Few studies have examined the issue of nurses' practices concerning IMI in this domain, and none considered specifically hygiene. Finally, no study appears to have looked at emergency situations and their possible influence on practices. The principal objective of our study was to assess the practices associated with IMI in mental health, especially the hygiene-related practices. The secondary objectives were as follows: 1) to assess the practices for the preparation and administration of IMI in mental health for criteria other than hygiene and 2) to determine whether professional experience and emergency situations influence these practices. DESIGN: Single-centre cross-sectional study in a psychiatric Hospital and adherence to the STROBE guidelines. METHODS: The participating nurses all worked with inpatients, and all volunteered for the study. A self-administered questionnaire was sent to all participants. The questionnaire included questions about knowledge and practices associated with IMI, some considered in two different situations: emergencies and planned injections. The distribution of the responses was tested by the chi-squared test or Fisher's exact test, as appropriate, or by McNemar's chi-squared test or Friedman's nonparametric chi-squared test for matched data. RESULTS: Response rate was 48.6%. Overall, 81% of nurses reported correct handwashing before preparation, 87.5% responded that the dorsogluteal site is currently recommended for IMI, and 74.6% that they did not know the "Z track" technique. In planned injections, 58.7% reported that the choice of needle was determined, at least in part, by the patient's body mass index. In emergency situations, adherence to guidelines was less frequent for all types of practices. CONCLUSIONS: This study shows the need to improve practices for the frequently used procedure of IMI among mental health nurses. RELEVANCE TO CLINICAL PRACTICE: Better professional education appears necessary to develop optimal practices, especially in emergency situations.


Injections, Intramuscular/nursing , Mental Disorders/drug therapy , Psychiatric Nursing/methods , Cross-Sectional Studies , Emergency Treatment/nursing , Female , Health Knowledge, Attitudes, Practice , Humans , Male , Mental Disorders/nursing , Surveys and Questionnaires
9.
J Exp Bot ; 69(22): 5355-5371, 2018 11 26.
Article En | MEDLINE | ID: mdl-30169823

In eudicotyledons, accumulation of trihydroxycinnamoyl spermidine that is restricted to the pollen wall constitutes an evolutionary conserved trait. However, the role of this compound, which is synthetized by the BAHD enzyme spermidine hydroxycinnamoyl transferase (SHT), is still a matter of debate. Here, we show that this particular phenolamide is replaced by tetrahydroxycinnamoyl spermine in the pollen coat of the Asteraceae. Phylogenetic analyses combined with quantitative RT-PCR experiments allowed the identification of two homologous genes from Cichorium intybus (chicory) putatively involved in its metabolism. In vitro biochemical characterization of the two enzymes, named CiSHT1 and CiSHT2, confirmed the capability of recombinant proteins to synthesize spermine as well as spermidine derivatives. The wild-type metabolic phenotype was partially restored in an Arabidopsis sht mutant expressing CiSHT2. Strikingly, the transgenic plants also accumulated spermine derivatives that were absent in the wild-type. Overexpression of CiSHT2 in chicory hairy roots led to the accumulation of spermine derivatives, confirming its in vivo function. Complementary sequence analyses revealed the presence of an amino acid motif typical of the SHTs among the BAHD enzyme family. Our results highlight a recent neofunctionalization among the SHTs that has promoted the emergence of new phenolamides in the Asteraceae, which could potentially have contributed to the evolutionary success of this family.


Arabidopsis/genetics , Cichorium intybus/genetics , Plant Proteins/genetics , Pollen/metabolism , Amino Acid Sequence , Arabidopsis/metabolism , Cichorium intybus/metabolism , Plant Proteins/chemistry , Plant Proteins/metabolism , Sequence Alignment , Spermine/metabolism
10.
Front Plant Sci ; 7: 741, 2016.
Article En | MEDLINE | ID: mdl-27375627

Chicory (Cichorium intybus) accumulates caffeic acid esters with important significance for human health. In this study, we aim at a better understanding of the biochemical pathway of these bioactive compounds. Detailed metabolic analysis reveals that C. intybus predominantly accumulates caftaric and chicoric acids in leaves, whereas isochlorogenic acid (3,5-diCQA) was almost exclusively accumulated in roots. Chlorogenic acid (3-CQA) was equally distributed in all organs. Interestingly, distribution of the four compounds was related to leaf age. Induction with methyljasmonate (MeJA) of root cell suspension cultures results in an increase of 3-CQA and 3,5-diCQA contents. Expressed sequence tag libraries were screened using members of the BAHD family identified in Arabidopsis and tobacco as baits. The full-length cDNAs of five genes were isolated. Predicted amino acid sequence analyses revealed typical features of BAHD family members. Biochemical characterization of the recombinant proteins expressed in Escherichia coli showed that two genes encode HCTs (hydroxycinnamoyl-CoA:shikimate/quinate hydroxycinnamoyltransferases, HCT1 and HCT2) whereas, three genes encode HQTs (hydroxycinnamoyl-CoA:quinate hydroxycinnamoyltransferases, HQT1, HQT2, and HQT3). These results totally agreed with the phylogenetic analysis done with the predicted amino acid sequences. Quantitative real-time polymerase chain reaction analysis of gene expression indicated that HQT3, HCT1, and HCT2 might be more directly associated with CQA accumulation in cell culture in response to MeJA elicitation. Transient expression of HCT1 and HQT1 in tobacco resulted in a higher production of 3-CQA. All together these data confirm the involvement of functionally redundant genes in 3-CQA and related compound synthesis in the Asteraceae family.

11.
Front Plant Sci ; 6: 651, 2015.
Article En | MEDLINE | ID: mdl-26347767

Plant polyphenols represent a huge reservoir of bioactive compounds. Industrial chicory, an important crop from northwestern Europe, accumulates an original combination of such compounds, i.e., chlorogenic, isochlorogenic, caftaric, and chicoric acids arising from the phenylpropanoid pathway. For a complete understanding of these biochemical pathways, analyses of gene expression using quantitative real-time PCR (qRT-PCR) should be considered. Because cell cultures are a model of choice for specialized metabolism investigations, this study described for the first time the validation of reference genes for this system in chicory. Eighteen potential reference genes were obtained by mining expressed sequence tag databases of chicory for orthologs of Arabidopsis thaliana genes currently used as reference genes. Twelve genes passed the qRT-PCR standard requirements and their expression stability across different samples was tested using three distinct softwares: geNorm, NormFinder, and BestKeeper. In cell cultures grown under various conditions, TIP41 (TIP41 like protein) was shown to be the most stable gene. Further validation of the proposed reference genes was done by normalization of expression levels of a group of genes of interest. In order to assess the potentiality of the proposed list of candidate reference genes, theses genes were in parallel tested on another experimental design, i.e., chicory seedlings. In this case, the best reference gene identified was Clath (Clathrin adaptator complex subunit). The results highlight the importance of the use of properly validated reference genes to achieve relevant interpretation of qRT-PCR analyses. Here, we provide a list of reference genes suitable for future gene expression studies in chicory.

12.
Value Health ; 18(5): 605-13, 2015 Jul.
Article En | MEDLINE | ID: mdl-26297088

BACKGROUND: Several minimally invasive techniques for cardiac output monitoring such as the esophageal Doppler (ED) and arterial pulse pressure waveform analysis (APPWA) have been shown to improve surgical outcomes compared with conventional clinical assessment (CCA). OBJECTIVE: To evaluate the cost-effectiveness of these techniques in high-risk abdominal surgery from the perspective of the French public health insurance fund. METHODS: An analytical decision model was constructed to compare the cost-effectiveness of ED, APPWA, and CCA. Effectiveness data were defined from meta-analyses of randomized clinical trials. The clinical end points were avoidance of hospital mortality and avoidance of major complications. Hospital costs were estimated by the cost of corresponding diagnosis-related groups. RESULTS: Both goal-directed therapy strategies evaluated were more effective and less costly than CCA. Perioperative mortality and the rate of major complications were reduced by the use of ED and APPWA. Cost reduction was mainly due to the decrease in the rate of major complications. APPWA was dominant compared with ED in 71.6% and 27.6% and dominated in 23.8% and 20.8% of the cases when the end point considered was "major complications avoided" and "death avoided," respectively. Regarding cost per death avoided, APPWA was more likely to be cost-effective than ED in a wide range of willingness to pay. CONCLUSIONS: Cardiac output monitoring during high-risk abdominal surgery is cost-effective and is associated with a reduced rate of hospital mortality and major complications, whatever the device used. The two devices evaluated had negligible costs compared with the observed reduction in hospital costs. Our comparative studies suggest a larger effect with APPWA that needs to be confirmed by further studies.


Abdomen/surgery , Arterial Pressure , Blood Pressure Determination/economics , Cardiac Output , Echocardiography, Doppler/economics , Esophagus/diagnostic imaging , Fluid Therapy/economics , Hospital Costs , Monitoring, Intraoperative/economics , Aged , Blood Pressure Determination/instrumentation , Cost Savings , Cost-Benefit Analysis , Decision Support Techniques , Decision Trees , Echocardiography, Doppler/instrumentation , France , Hospital Mortality , Humans , Middle Aged , Models, Economic , Monitoring, Intraoperative/instrumentation , Monitoring, Intraoperative/methods , Monte Carlo Method , National Health Programs/economics , Postoperative Complications/economics , Postoperative Complications/mortality , Postoperative Complications/prevention & control , Predictive Value of Tests , Public Sector/economics , Treatment Outcome
13.
Cardiovasc Intervent Radiol ; 38(3): 672-7, 2015 Jun.
Article En | MEDLINE | ID: mdl-25231824

OBJECTIVES: The aim of this study was to evaluate the feasibility of cryoablation of renal tumours without sedation. MATERIALS AND METHODS: We prospectively evaluated 149 computed tomography-guided renal cryoablation procedures that were performed at our institution between 2009 and 2013. The patients received only 1 g of IV paracetamol prior to the procedure; intraprocedural, local anaesthesia was administered. We recorded the date and duration of the procedure, size and location of the tumour, number of cryoneedles used, need for dissection with saline or carbon dioxide and intraprocedural degree of pain, which was scored using an established visual analogue pain score (VAS) (0-10). Multivariate analysis was used to identify the associations between the recorded parameters and VAS. RESULTS: An interventional radiologist and a technician could perform all procedures without the help of anaesthesiologists and with adequate analgesia. The pain level ranged from 0 to 8 (mean, 2.0). It did not correlate with the tumour size or with the number of cryoneedles. It was significantly greater when the ice ball involved renal cavities (p = .0033) and when carbon dioxide was used for dissection (p < .0001). Conversely, the team experience was positively correlated with lower pain levels (p = .0381). CONCLUSION: This study demonstrates that the cryoablation of renal tumours is feasible by interventional radiologists alone using a combination of IV paracetamol and local anaesthesia.


Anesthesia, Local/methods , Cryosurgery , Kidney Neoplasms/surgery , Kidney/surgery , Pain Management/methods , Aged , Feasibility Studies , Female , Humans , Kidney/diagnostic imaging , Kidney Neoplasms/diagnostic imaging , Male , Prospective Studies , Radiography, Interventional , Tomography, X-Ray Computed
16.
Ann Surg Oncol ; 21(4): 1398-404, 2014 Apr.
Article En | MEDLINE | ID: mdl-24380923

BACKGROUND: The purpose of this study was to determine health-related quality of life (HRQoL) among long-term disease-free survivors in women who underwent radical cystectomy (RC) for urothelial carcinoma and orthotopic ileal neobladder (ONB) reconstruction, using validated patient-reported outcome instruments. METHODS: From 2000 to 2011, a total of 46 women with urothelial bladder carcinoma had RC and ONB at our institution; 31 (67 %) eligible women completed 3 validated questionnaires: the medical outcome study short form 12 (SF-12), the urinary symptom profile, and the Contilife, respectively evaluating general HRQoL, voiding function, and urinary incontinence specific HRQoL. Unadjusted analyses were performed to analyze standardized measures of HRQoL and voiding symptoms; p < 0.05 was considered significant. RESULTS: The mean follow-up was 5.7 years; 24 women (77 %) considered their health as good, very good, or excellent. The SF-12 physical and mental scores were not significantly different between the population study and the general population (p > 0.05). A total of 20 women (65 %) declared to be fully continent. Daytime incontinence, nighttime incontinence, and hypercontinence were reported by 26, 29, and 31 % of women, respectively. On unadjusted analysis, incontinence was associated with age > 65 years at the time of surgery (p < 0.001). Hypercontinence was not associated with any variable. CONCLUSIONS: This study suggests that in the setting of radical cystectomy in women, ileal neobladder reconstruction provides long-term satisfaction with maintained HRQoL. For properly selected women, orthotopic neobladder can be considered an appropriate diversion choice.


Cystectomy , Ileum/surgery , Muscle Neoplasms/surgery , Plastic Surgery Procedures , Quality of Life , Urinary Bladder Neoplasms/surgery , Urinary Diversion , Adult , Aged , Aged, 80 and over , Female , Follow-Up Studies , Humans , Middle Aged , Muscle Neoplasms/pathology , Muscle Neoplasms/psychology , Neoplasm Invasiveness , Neoplasm Staging , Postoperative Complications , Prognosis , Surveys and Questionnaires , Survivors/psychology , Urinary Bladder Neoplasms/pathology , Urinary Bladder Neoplasms/psychology , Urination/physiology
17.
Rev Prat ; 64(10): 1391-2, 1395-8, 2014 Dec.
Article Fr | MEDLINE | ID: mdl-25668831

Muscle invasive bladder cancers represent 20 to 30% of bladder tumors and are metastatic at diagnosis in 10% of cases. The diagnosis is based on histological analysis of transuretral resection pieces. An invasion of the detrusor (stage pT2) signs the infiltrating nature of the tumor. The local and general staging is based on thoraco-abdominopelvic CT. The standard treatment for localized stages is cystoprostatectomy in men and anterior pelvic exenteration in women. For urinary diversion, the two choices are cutaneous non continent ileal conduit (Bricker) and ileal neobladder. Neoadjuvant chemotherapy can be discussed for locally advanced stages. The concomitant chemoradiotherapy is an alternative to surgical treatment in elderly or frail patients. The management of metastatic bladder cancer is based on systemic chemotherapy.


Carcinoma/pathology , Carcinoma/therapy , Urinary Bladder Neoplasms/pathology , Urinary Bladder Neoplasms/therapy , Carcinoma/mortality , Chemoradiotherapy/methods , Cystectomy/methods , Humans , Neoplasm Invasiveness , Neoplasm Staging , Patient Selection , Prognosis , Urinary Bladder Neoplasms/mortality , Urinary Diversion/methods
20.
Gene ; 527(1): 426-8, 2013 Sep 15.
Article En | MEDLINE | ID: mdl-23774691

X-linked agammaglobulinemia (XLA) or Bruton disease is a relatively rare constitutionally immune disorder due to a genetic mutation of BTK (Bruton tyrosine kinase) gene which encodes for BTK protein. BTK is a signal-transducing protein expressed in hematopoietic lineages. The genetic disorder is responsible for B cell lymphocytes' maturation arrest. The humoral immunodeficiency caused by BTK mutation is linked with recurrent bacterial and viral infections. Genetic investigations of the prepositus as well as the other members of the family are necessary to characterize a mutation in BTK gene to confirm the diagnosis and reveal a hereditary transmission or de novo mutation. Authors propose and comment a case report of an 8 month old child who suffers from Bruton disease. Initial presentation was neutropenia, but genetic investigation has revealed a previously non-reported mutation in the BTK gene. The same mutation was found in the mother with low expression of BTK in monocytes and normal in B-cells suggesting a lineage specific extinction of BTK which has never been reported before.


Agammaglobulinemia/diagnosis , Genetic Diseases, X-Linked/diagnosis , Protein-Tyrosine Kinases/genetics , Agammaglobulinaemia Tyrosine Kinase , Agammaglobulinemia/enzymology , Agammaglobulinemia/genetics , DNA Mutational Analysis , Genetic Diseases, X-Linked/enzymology , Genetic Diseases, X-Linked/genetics , Humans , Infant , Male , Mutation, Missense
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