Genomes and Genes
Experts and Doctors on adolescent in Paris, Île de France, France
Locale: Paris, Île de France, France
Publications822 found, 100 shown here
- Bourhy P, Collet L, Lernout T, Zinini F, Hartskeerl R, van der Linden H, et al. Human leptospira isolates circulating in Mayotte (Indian Ocean) have unique serological and molecular features. J Clin Microbiol. 2012;50:307-11 pubmed publisher..These results are essential for the improvement of current diagnostic tools and provide a starting point for a better understanding of the epidemiology of leptospirosis in this area of endemicity...
- Burnichon N, Cascon A, Schiavi F, Morales N, Comino Mendez I, Abermil N, et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res. 2012;18:2828-37 pubmed publisher..How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL...
- Gungor T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014;383:436-48 pubmed publisher..We examined the effect of a reduced-intensity conditioning regimen designed to enhance myeloid engraftment and reduce organ toxicity in these patients...
- Marlin S, Chantot Bastaraud S, David A, Loundon N, Jonard L, Portnoi M, et al. Discovery of a large deletion of KAL1 in 2 deaf brothers. Otol Neurotol. 2013;34:1590-4 pubmed publisher..The description of a hearing defect in 2 brothers with Kallmann syndrome allows asserting that deafness is part of the clinical features of this disease and must lead the physician to monitor the hearing function of Kallmann patients. ..
- ..Internal copies of eye movements may thus be used separately to establish spatiotopic representations and to maintain oculomotor accuracy. ..
- Guinard N, Beloucif S, Gatecel C, Mateo J, Payen D. Interest of a therapeutic optimization strategy in severe ARDS. Chest. 1997;111:1000-7 pubmed..05). In patients with severe ARDS, the response to an early performed therapeutic optimization used to improve hypoxemia appeared to be a highly discriminant factor distinguishing deceased from surviving patients. ..
- Gaultier C, Simonneau M, Dauger S, Gallego J. [Genetics and respiratory control: studies in normal humans and genetically modified animals]. Rev Mal Respir. 2003;20:77-94 pubmed..Respiratory control genetics is opening up new paths for research into respiratory physiology and pathophysiology. ..
- Mathoulin C, Hoyos A, Pelaez J. Arthroscopic resection of wrist ganglia. Hand Surg. 2004;9:159-64 pubmed..There were no complications. We had four recurrences. For the palmar cysts, our average follow-up was 26 months (range 12-39 months). There have been no recurrences to date...
- Zucman Rossi J, Jeannot E, Nhieu J, Scoazec J, Guettier C, Rebouissou S, et al. Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC. Hepatology. 2006;43:515-24 pubmed
- Meningaud J, Pitak Arnnop P, Bertrand J. Endoscope-assisted submandibular sialoadenectomy: a pilot study. J Oral Maxillofac Surg. 2006;64:1366-70 pubmed..All patients were satisfied with the outcome and especially the cosmetic result. Absence of extensive scars, nontraumatic dissection, and magnification of anatomic structures are the most obvious advantages of this innovative technique. ..
- Bergoend E, Raisky O, Degandt A, Tamisier D, Sidi D, Vouhe P. Myocardial revascularization in infants and children by means of coronary artery proximal patch arterioplasty or bypass grafting: a single-institution experience. J Thorac Cardiovasc Surg. 2008;136:298-305 pubmed publisher..On the other hand, variable indications and poorer preoperative cardiac conditions might have contributed to the disappointing results observed after coronary bypass. ..
- Mateus C, Palangié A, Franck N, Groussin L, Bertagna X, Avril M, et al. Heterogeneity of skin manifestations in patients with Carney complex. J Am Acad Dermatol. 2008;59:801-10 pubmed publisher..The classification proposed in our study should be validated on more patients. Skin manifestations are heterogeneous in patients with CNC, and skin phenotype seems to be correlated with endocrine phenotype. ..
- Bahi Buisson N, Roze E, Dionisi C, Escande F, Valayannopoulos V, Feillet F, et al. Neurological aspects of hyperinsulinism-hyperammonaemia syndrome. Dev Med Child Neurol. 2008;50:945-9 pubmed publisher..Our data demonstrate that neurological disorders in HHS are more frequent than previously thought and might suggest that mutations in the GTP binding site of GDH could be associated with more frequent epilepsy...
- Bodemer C, Bourrat E, Mazereeuw Hautier J, Boralevi F, Barbarot S, Bessis D, et al. Short- and medium-term efficacy of specific hydrotherapy in inherited ichthyosis. Br J Dermatol. 2011;165:1087-94 pubmed publisher..baseline. A 3-week treatment at Avène Hydrotherapy Centre provided significant and persisting improvement of QoL and clinical symptoms in patients with inherited ichthyoses. ..
- Plainvert C, Doloy A, Loubinoux J, Lepoutre A, Collobert G, Touak G, et al. Invasive group A streptococcal infections in adults, France (2006-2010). Clin Microbiol Infect. 2012;18:702-10 pubmed publisher..Fortunately, emm1 strains associated with the most life-threatening clinical manifestations remain susceptible to all anti-streptococcal antibiotics. ..
- Cohuet S, Marquer C, Shepherd S, Captier V, Langendorf C, Ale F, et al. Intra-household use and acceptability of Ready-to-Use-Supplementary-Foods distributed in Niger between July and December 2010. Appetite. 2012;59:698-705 pubmed publisher..On average, 91% of caregivers in all districts rated the child's appreciation of the products as good or very good. Program planning may need to explicitly accounting for the sharing of products among children under 5 within household. ..
- Kone V, Lecomte F, Randriamanana D, Pourriat J, Claessens Y, Vidal Trecan G. Impact of a pilot team on patients' pain reduction and satisfaction in an emergency department: A before-and-after observational study. Rev Epidemiol Sante Publique. 2016;64:59-66 pubmed publisher..However, respectively, 56.2% and 39.8% of patients remained without pain relief and dissatisfied with pain management at the end of their visit. ..
- Henocq E, Rihoux J. Does reversed-type anaphylaxis in healthy subjects mimic a real allergic reaction?. Clin Exp Allergy. 1990;20:269-72 pubmed..i.d. Anti-IgE challenge was followed by a significant eosinophil accumulation in atopic subjects only. Cetirizine significantly inhibited this phenomenon while terfenadine showed a mild non-significant inhibitory effect. ..
- Leger J, Thizon de Gaulle I, Czernichow P. [Bone demineralization and elevation of serum osteocalcin concentrations in young children with hyperthyroidism]. Ann Pediatr (Paris). 1993;40:404-9 pubmed
- Massari V, Maison P, Desenclos J, Flahault A. Six years of sentinel surveillance of hepatitis B in general practice in France. Eur J Epidemiol. 1998;14:765-7 pubmed..However, the universal hepatitis B immunisation strategy proposed by WHO will dramatically limit the expansion of the population of chronically infected subjects if high coverage is achieved rapidly. ..
- Ballerini P, Blaise A, Busson Le Coniat M, Su X, Zucman Rossi J, Adam M, et al. HOX11L2 expression defines a clinical subtype of pediatric T-ALL associated with poor prognosis. Blood. 2002;100:991-7 pubmed..Finally, our data show that HOX11L2 expression was a suitable marker for minimal residual disease follow-up and was significantly associated with relapse (P =.02). ..
- Gluckman E, Rokicka Milewska R, Hann I, Nikiforakis E, Tavakoli F, Cohen Scali S, et al. Results and follow-up of a phase III randomized study of recombinant human-granulocyte stimulating factor as support for immunosuppressive therapy in patients with severe aplastic anaemia. Br J Haematol. 2002;119:1075-82 pubmed..We conclude that lenograstim support of immunosuppressive therapy might be used for patients with severe aplastic anaemia as it significantly enhances neutrophil recovery but does not modify the overall response and survival. ..
- Imai K, Catalan N, Plebani A, Marodi L, Sanal O, Kumaki S, et al. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination. J Clin Invest. 2003;112:136-42 pubmed..Thus, HIGM4 is probably the consequence of a selective defect either in a CSR-specific factor of the DNA repair machinery or in survival signals delivered to switched B cells. ..
- Lebon S, Chol M, Benit P, Mugnier C, Chretien D, Giurgea I, et al. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet. 2003;40:896-9 pubmed..The recurrent mutations consistently involved T-->C transitions (p<10(-4)). This study supports the view that an efficient molecular screening should be based on an accurate identification of respiratory chain enzyme deficiency...
- Fremeaux Bacchi V, Dragon Durey M, Blouin J, Vigneau C, Kuypers D, Boudailliez B, et al. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. 2004;41:e84 pubmed
- Laquieze S, Czernielewski J, Rueda M. Beneficial effect of a moisturizing cream as adjunctive treatment to oral isotretinoin or topical tretinoin in the management of acne. J Drugs Dermatol. 2006;5:985-90 pubmed..Retinoid-induced skin irritation can be relieved by the regular use of a gentle moisturizing cream as an adjunctive treatment. ..
- Legoff J, Kara R, Moulin F, Si Mohamed A, Krivine A, Belec L, et al. Evaluation of the one-step multiplex real-time reverse transcription-PCR ProFlu-1 assay for detection of influenza A and influenza B viruses and respiratory syncytial viruses in children. J Clin Microbiol. 2008;46:789-91 pubmed..In addition, the ProFlu-1 assay amplified 9% of samples not detected by conventional methods. ..
- Bonnet C, Augustin S, Ellouze S, Benit P, Bouaita A, Rustin P, et al. The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes. Biochim Biophys Acta. 2008;1783:1707-17 pubmed publisher..Hence, we confirmed here for two mitochondrial genes located in the organelle that the optimized allotopic expression approach represents a powerful tool that could ultimately be applied in human therapy for LHON. ..
- Rocha V, Porcher R, Fernandes J, Filion A, Bittencourt H, Silva W, et al. Association of drug metabolism gene polymorphisms with toxicities, graft-versus-host disease and survival after HLA-identical sibling hematopoietic stem cell transplantation for patients with leukemia. Leukemia. 2009;23:545-56 pubmed publisher..04, respectively).Genetic factors that interfere with drug metabolisms are associated with treatment-related toxicities, GvHD and survival after HLA-identical HSCT in patients with leukemia and should be investigated prospectively. ..
- Bredart A, Dolbeault S, Savignoni A, Besancenet C, This P, Giami A, et al. Prevalence and associated factors of sexual problems after early-stage breast cancer treatment: results of a French exploratory survey. Psychooncology. 2011;20:841-50 pubmed publisher..Psychological factors including the perception of the couple relationship appeared prominent in BCS women's experience of sexual problems. ..
- Wary C, Nadaj Pakleza A, Laforet P, Claeys K, Carlier R, Monnet A, et al. Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy. Neuromuscul Disord. 2010;20:548-58 pubmed publisher..These non-invasive investigations provide new indices to quantify the progression of GSDIII. ..
- Herve D, Touraine P, Verloes A, Miskinyte S, Krivosic V, Logeart D, et al. A hereditary moyamoya syndrome with multisystemic manifestations. Neurology. 2010;75:259-64 pubmed publisher..Carrier females had normal phenotype and clinical history. These data strongly suggest that this family is affected by a hereditary moyamoya multisystem disorder with X-linked recessive pattern of inheritance. ..
- Carrat F, Pelat C, Levy Bruhl D, Bonmarin I, Lapidus N. Planning for the next influenza H1N1 season: a modelling study. BMC Infect Dis. 2010;10:301 pubmed publisher..These model-based findings should help to prepare for a second pandemic season, and highlight the need for studies of the different components of immune protection. ..
- Maataoui N, Bidet P, Doit C, De Lauzanne A, Lorrot M, Mariani Kurkdjian P, et al. A multiplex polymerase chain reaction method for rapid pneumococcal serotype determination in childhood empyema. Diagn Microbiol Infect Dis. 2011;69:245-9 pubmed publisher..Over 1 year, we identified serotypes 19A (n = 6), 1 (n = 2), 3 (n = 1) and 7F/A (n = 2), both in culture-positive and culture-negative pleural fluid from 11 children with empyema. ..
- Diallo A, Ndam N, Moussiliou A, Dos Santos S, Ndonky A, Borderon M, et al. Asymptomatic carriage of plasmodium in urban Dakar: the risk of malaria should not be underestimated. PLoS ONE. 2012;7:e31100 pubmed publisher..PCR may be the best tool for measuring plasmodium prevalence in the context of low transmission. Environmental conditions play a major role in the heterogeneity of parasite prevalence within sites. ..
- Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, et al. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet. 2012;90:740-5 pubmed publisher..However, resistance to parathyroid hormone and thyrotropin was consistently observed in the five cases with PRKAR1A mutations. Finally, our study further supports the key role of the cAMP signaling pathway in skeletogenesis. ..
- Guérin El Khourouj V, Duchamp M, Krivine A, Pedron B, Ouachée Chardin M, Yakouben K, et al. Cellular and humoral immunity elicited by influenza vaccines in pediatric hematopoietic-stem cell transplantation. Hum Immunol. 2012;73:884-90 pubmed publisher..H1N1/H3N2 T-cell cross-reactivity and protective (IL2) rather than effector (IFN?) cytokinic profiles were elicited. ..
- Duval X, Caplanusi A, Laurichesse H, Deplanque D, Loulergue P, Vaman T, et al. Flexibility of interval between vaccinations with AS03A-adjuvanted influenza A (H1N1) 2009 vaccine in adults aged 18-60 and >60?years: a randomized trial. BMC Infect Dis. 2012;12:162 pubmed publisher..Such flexibility could help to reduce the logistic stress on delivery of pandemic vaccination programmes. ClinicalTrials.gov, NCT00975884. ..
- Montes M, Nelson M, Girard P, Sasadeusz J, Horban A, Grinsztejn B, et al. Telaprevir-based therapy in patients coinfected with chronic hepatitis C virus infection and HIV: INSIGHT study. J Antimicrob Chemother. 2016;71:244-50 pubmed publisher..In treatment-naive/-experienced HCV-1/HIV-1 patients there were significantly higher SVR rates with telaprevir-based therapy compared with pre-specified historical controls, and safety comparable to that in HCV-monoinfected patients. ..
- Tabone L, Mediamolle N, Bellesme C, Lesage F, Grevent D, Ozanne A, et al. Regional Pediatric Acute Stroke Protocol: Initial Experience During 3 Years and 13 Recanalization Treatments in Children. Stroke. 2017;48:2278-2281 pubmed publisher..Hyperacute recanalization treatment in pediatric stroke, relying on common protocols and adult/pediatric ward collaboration, is feasible. Larger systematic case collection is encouraged. ..
- Villa E, Vanden Eynden F, Le Bret E, Folliguet T, Laborde F. Paediatric video-assisted thoracoscopic clipping of patent ductus arteriosus: experience in more than 700 cases. Eur J Cardiothorac Surg. 2004;25:387-93 pubmed..VATS clipping requires minimal operating time and avoids morbidity related to chest wall trauma, percutaneous vascular access, and intravascular foreign bodies. ..
- Boelle P, Cesbron J, Valleron A. Epidemiological evidence of higher susceptibility to vCJD in the young. BMC Infect Dis. 2004;4:26 pubmed..Decreasing age related susceptibility is required to reproduce the characteristics of the age distribution of vCJD cases. ..
- Papadimitriou D, Linglart A, Morel Y, Chaussain J. Puberty in subjects with complete androgen insensitivity syndrome. Horm Res. 2006;65:126-31 pubmed..Androgen receptor defects affect the regulation of the gonadotropic axis. However, little is known about the timing of pubertal maturation in complete androgen insensitivity syndrome (CAIS)...
- Eshki M, Allanore L, Musette P, Milpied B, Grange A, Guillaume J, et al. Twelve-year analysis of severe cases of drug reaction with eosinophilia and systemic symptoms: a cause of unpredictable multiorgan failure. Arch Dermatol. 2009;145:67-72 pubmed publisher..Early demonstration of human herpesvirus 6 reactivation could be considered a prognostic factor for identifying patients at higher risk and, hence, needs to be evaluated. ..
- Si Mohamed A, Badoual C, Hans S, Pere H, Tartour E, Brasnu D. An unusual human papillomavirus type 82 detection in laryngeal squamous cell carcinoma: case report and review of literature. J Clin Virol. 2012;54:190-3 pubmed publisher..Herein, we report a case of invasive laryngeal SCC expressing an HPV 82 in an 18 year-old man with a history of unexplored severe acute dysphonia that started in early childhood...
- Valenciano M, Kissling E. Early estimates of seasonal influenza vaccine effectiveness in Europe: results from the I-MOVE multicentre case-control study, 2012/13. Euro Surveill. 2013;18:3 pubmed..4% (95% CI: -20.7 to 79.6) against all influenza types in the target groups for vaccination. Efforts to improve influenza vaccines should continue to better protect those at risk of severe illness or complications. ..
- Bocquier A, Fressard L, Legleye S, Verger P, Peretti Watel P. Social Differentiation of Sun-Protection Behaviors: The Mediating Role of Cognitive Factors. Am J Prev Med. 2016;50:e81-e90 pubmed publisher..Further qualitative research is needed to better understand these cognitive factors and develop suitable prevention messages. ..
- Delattre O, Zucman J, Melot T, Garau X, Zucker J, Lenoir G, et al. The Ewing family of tumors--a subgroup of small-round-cell tumors defined by specific chimeric transcripts. N Engl J Med. 1994;331:294-9 pubmed..This approach can be applied to small specimens obtained by fine-needle biopsies. ..
- Dray X, Bienvenu T, Desmazes Dufeu N, Dusser D, Marteau P, Hubert D. Distal intestinal obstruction syndrome in adults with cystic fibrosis. Clin Gastroenterol Hepatol. 2004;2:498-503 pubmed..005). DIOS is frequent in adults with CF with a severe CFTR genotype and/or advanced-stage pulmonary disease. The relative contributions of malabsorption and impaired intestinal secretion in the development of DIOS are discussed. ..
- Bassez G, Lazarus A, Desguerre I, Varin J, Laforet P, Becane H, et al. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology. 2004;63:1939-41 pubmed..Wide variations in CTG expansion were observed among the population. Since physical exercise was a prominent arrhythmogenic factor, systematic exercise tests with EKG monitoring may be indicated in young patients with DM1. ..
- Goulet O, Sauvat F, Ruemmele F, Caldari D, Damotte D, Cezard J, et al. Results of the Paris program: ten years of pediatric intestinal transplantation. Transplant Proc. 2005;37:1667-70 pubmed
- Brenner D, Labreuche J, Poirier O, Cambien F, Amarenco P. Renin-angiotensin-aldosterone system in brain infarction and vascular death. Ann Neurol. 2005;58:131-8 pubmed..These results suggest that renin-angiotensin-aldosterone system activity and genes contribute to cerebrovascular disease and poststroke vascular death in white patients. ..
- Godart N, Perdereau F, Rein Z, Curt F, Kaganski I, Lucet R, et al. Resolving a disagreement in a clinical team: overcoming conflicting views about the role of family therapy in an outpatient treatment programme for anorexia nervosa. Eat Weight Disord. 2006;11:185-94 pubmed..The paper describes the difficulties encountered by our team, and the experimental design chosen to resolve the debate. Data will not be set out here. ..
- Glotz D, Charpentier B, Abramovicz D, Lang P, Rostaing L, Rifle G, et al. Thymoglobulin induction and sirolimus versus tacrolimus in kidney transplant recipients receiving mycophenolate mofetil and steroids. Transplantation. 2010;89:1511-7 pubmed publisher..001). Patients treated with induction plus SRL, mycophenolate mofetil, and corticosteroids may obtain good renal function but have a higher risk of adverse events, drug withdrawal, and graft loss. ..
- Verdier J, Begue B, Cerf Bensussan N, Ruemmele F. Compartmentalized expression of Th1 and Th17 cytokines in pediatric inflammatory bowel diseases. Inflamm Bowel Dis. 2012;18:1260-6 pubmed publisher..This indicates overlapping but distinct immune mechanisms driving intestinal inflammation in these two pathologies. ..
- Boyer O, Woerner S, Yang F, Oakeley E, Linghu B, Gribouval O, et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol. 2013;24:1216-22 pubmed publisher..This highlights the need to include these genes in all diagnostic approaches to FSGS that involve next-generation sequencing. ..
- Capo Chichi J, Mehawej C, Delague V, Caillaud C, Khneisser I, Hamdan F, et al. Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. Eur J Med Genet. 2015;58:637-41 pubmed publisher..Overall, our findings confirm the involvement of NBAS in the pathogenesis of this condition characterized by severe liver dysfunction and help expand its phenotypical spectrum. ..
- Ferrari A, Chi Y, De Salvo G, Orbach D, Brennan B, Randall R, et al. Surgery alone is sufficient therapy for children and adolescents with low-risk synovial sarcoma: A joint analysis from the European paediatric soft tissue sarcoma Study Group and the Children's Oncology Group. Eur J Cancer. 2017;78:1-6 pubmed publisher..Avoiding the use of adjuvant chemotherapy and radiotherapy in this low-risk patient population may decrease both short- and long-term morbidity and mortality. ..
- George B. Jugulare foramen paragangliomas. Acta Neurochir (Wien). 1992;118:20-6 pubmed..The rate of incomplete removal of C and D tumours dropped to about 15%. But very large and extensive tumours remain a real challenge. Teamwork between neuroradiologists, ENT-surgeons and neurosurgeons is mandatory. ..
- Daumas Duport C, Varlet P, Bacha S, Beuvon F, Cervera Pierot P, Chodkiewicz J. Dysembryoplastic neuroepithelial tumors: nonspecific histological forms -- a study of 40 cases. J Neurooncol. 1999;41:267-80 pubmed
- Flechon A, Biron P, Droz J. High-dose chemotherapy with hematopoietic stem-cell support in germ-cell tumor patient treatment: the French experience. Int J Cancer. 1999;83:844-7 pubmed..A European randomized trial, which studies the role of HDCT in the first-line salvage treatment of non-refractory disease, is ongoing. So far, HDCT is not a standard treatment of GCT. ..
- Gernigon C, Fleurance P, Reine B. Effects of uncontrollability and failure on the development of learned helplessness in perceptual-motor tasks. Res Q Exerc Sport. 2000;71:44-54 pubmed..These results reveal that both uncontrollability and failure can be responsible for different forms of learned helplessness. ..
- Chalumeau M, Le Clainche L, Sayeg N, Sannier N, Michel J, Marianowski R, et al. Spontaneous pneumomediastinum in children. Pediatr Pulmonol. 2001;31:67-75 pubmed..Predisposing factors should be identified and controlled to prevent recurrence. Cases of idiopathic SPM necessitate diagnostic pulmonary function tests after the acute episode, to establish whether the child has asthma...
- Castanet M, Park S, Smith A, Bost M, Leger J, Lyonnet S, et al. A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Hum Mol Genet. 2002;11:2051-9 pubmed..Our observations support the role of TTF-2 in both thyroid and palate development but suggest phenotypic heterogeneity of this syndromic form of CH. ..
- Nicot F, Hart N, Forin V, Boule M, Clement A, Polkey M, et al. Respiratory muscle testing: a valuable tool for children with neuromuscular disorders. Am J Respir Crit Care Med. 2006;174:67-74 pubmed..Simple volitional respiratory muscle tests constitute a valuable tool for the assessment of respiratory muscle strength in young patients with neuromuscular disorders. ..
- Septien Velez L, Pitrosky B, Padmanabhan S, Germain J, Tourian K. A randomized, double-blind, placebo-controlled trial of desvenlafaxine succinate in the treatment of major depressive disorder. Int Clin Psychopharmacol. 2007;22:338-47 pubmed..These data provide support for the efficacy and safety of desvenlafaxine in the treatment of major depressive disorder. ..
- Arzel Hézode M, McGoey S, Sternberg D, Vicart S, Eymard B, Fontaine B. Glucocorticoids may trigger attacks in several types of periodic paralysis. Neuromuscul Disord. 2009;19:217-9 pubmed publisher..This report adds to the clinical description of glucocorticoids as a trigger of attacks of hypokalemic periodic paralysis indicating that glucocorticoids should be administered with caution in patients with periodic paralysis. ..
- Côte M, Ménager M, Burgess A, Mahlaoui N, Picard C, Schaffner C, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009;119:3765-73 pubmed publisher..These data indicate that STXBP2 is required at a late step of the secretory pathway for the release of cytotoxic granules by binding syntaxin 11, another component of the intracellular membrane fusion machinery. ..
- Guergueltcheva V, MÃ¼ller J, Dusl M, Senderek J, Oldfors A, Lindbergh C, et al. Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol. 2012;259:838-50 pubmed publisher..As tubular aggregates in context of a neuromuscular transmission defect appear to be highly indicative, we suggest calling this condition congenital myasthenic syndrome with tubular aggregates (CMS-TA). ..
- Huynh B, Fievet N, Briand V, Borgella S, Massougbodji A, Deloron P, et al. Consequences of gestational malaria on birth weight: finding the best timeframe for intermittent preventive treatment administration. PLoS ONE. 2012;7:e35342 pubmed publisher..Pregnant women should be encouraged to attend antenatal visits early to get their first SP dose and a third dose of SP could be recommended to cover the whole duration of pregnancy and to avoid late infections of the placenta. ..
- Birgand G, Armand Lefevre L, Lolom I, Ruppe E, Andremont A, Lucet J. Duration of colonization by extended-spectrum ?-lactamase-producing Enterobacteriaceae after hospital discharge. Am J Infect Control. 2013;41:443-7 pubmed publisher..88; 95% confidence interval, 1.33-2.67; P < .01). We found a long duration of ESBL-E carriage after hospital discharge. An automatic alert system was useful for identifying, screening, and isolating previous ESBL-E carriers. ..
- Wang X, Boisselier B, Rossetto M, Marie Y, Idbaih A, Mokhtari K, et al. Prognostic impact of the isocitrate dehydrogenase 1 single-nucleotide polymorphism rs11554137 in malignant gliomas. Cancer. 2013;119:806-13 pubmed publisher..The SNP rs11554137 is independent of the occurrence of somatic mutation on IDH1 codon 132, but, per se, has a prognostic impact in malignant gliomas. ..
- Benhamou Y, Moussalli J, Ratziu V, Lebray P, De Backer K, De Meyer S, et al. Telaprevir activity in treatment-naive patients infected hepatitis C virus genotype 4: a randomized trial. J Infect Dis. 2013;208:1000-7 pubmed publisher..Telaprevir was generally safe and well tolerated. Further investigation of telaprevir combination therapy in patients with HCV genotype 4 infection is warranted. ..
- GuiÃ¨ze R, Damaj G, Pereira B, Robin M, Chevallier P, Michallet M, et al. Management of Myelodysplastic Syndrome Relapsing after Allogeneic Hematopoietic Stem Cell Transplantation: A Study by the French Society of Bone Marrow Transplantation and CellÂ Therapies. Biol Blood Marrow Transplant. 2016;22:240-247 pubmed publisher..40; 95% CI, .26 to .63; P < .001). In conclusion, immunotherapy should be considered when possible for MDS patients relapsing after allo-HSCT. ..
- Baulac M, Leon T, O Brien T, Whalen E, Barrett J. A comparison of pregabalin, lamotrigine, and placebo as adjunctive therapy in patients with refractory partial-onset seizures. Epilepsy Res. 2010;91:10-9 pubmed publisher..Pregabalin was demonstrated to be noninferior to lamotrigine in the treatment of refractory partial seizures. Overall conclusions were complicated by an unusually large and heterogeneous placebo response. ..
- Chaib H, Place C, Salem N, Dode C, Chardenoux S, Weissenbach J, et al. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet. 1996;5:1061-4 pubmed..Each of these mouse mutants is a candidate mouse model for the DFNB12-associated hearing impairment. ..
- Trang H, Boureghda S, Denjoy I, Alia M, Kabaker M. 24-hour BP in children with congenital central hypoventilation syndrome. Chest. 2003;124:1393-9 pubmed..The abnormal circadian BP pattern observed in children and adolescents with CCHS may be related to autonomic nervous dysfunction. Lifelong cardiovascular follow-up is recommended for patients with CCHS. ..
- Briet M, Collin C, Laurent S, Tan A, Azizi M, Agharazii M, et al. Endothelial function and chronic exposure to air pollution in normal male subjects. Hypertension. 2007;50:970-6 pubmed..Gaseous pollutants affect large artery endothelial function, whereas particulate matter exaggerates the dilatory response of small arteries to ischemia. ..
- Ku C, von Bernuth H, Picard C, Zhang S, Chang H, Yang K, et al. Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med. 2007;204:2407-22 pubmed..Conversely, IRAK-4-dependent human TLRs appear to play a redundant role in protective immunity to most infections, at most limited to childhood immunity to some pyogenic bacteria. ..
- Dubern B, Girardet J, Tounian P. Insulin resistance and ferritin as major determinants of abnormal serum aminotransferase in severely obese children. Int J Pediatr Obes. 2006;1:77-82 pubmed..Android fat mass distribution, insulin resistance, and higher ferritin concentrations are significantly associated with liver abnormalities in our cohort. ..
- Lacaille F, Vass N, Sauvat F, Canioni D, Colomb V, Talbotec C, et al. Long-term outcome, growth and digestive function in children 2 to 18 years after intestinal transplantation. Gut. 2008;57:455-61 pubmed..Subnormal energy absorption and moderate steatorrhoea were often compensated for by hyperphagia, allowing normal growth and attainment of adult height. Long-term compliance is an important pre-requisite for long-term graft function. ..
- Petkova M, Gauvrit J, Trystram D, Nataf F, Godon Hardy S, Munier T, et al. Three-dimensional dynamic time-resolved contrast-enhanced MRA using parallel imaging and a variable rate k-space sampling strategy in intracranial arteriovenous malformations. J Magn Reson Imaging. 2009;29:7-12 pubmed publisher..3D dynamic TR-CE-MRA combining parallel imaging and a time-resolved method with subsecond and submillimeter resolution could become the first-line investigation technique in both diagnosis and follow-up of intracranial AVMs. ..
- Giraud C, Manceau S, Declèves X, Goffinet F, Morini J, Chappuy H, et al. Influence of development, HIV infection, and antiretroviral therapies on the gene expression profiles of ABC transporters in human lymphocytes. J Clin Pharmacol. 2010;50:226-30 pubmed publisher..Neither HIV infection nor antiretroviral therapies modulated the gene expression profiles of ABC transporters. In conclusion, drugs that are substrates of BCRP and MRP4, like zidovudine, may have an altered efficacy in newborns...
- Worbe Y, Mallet L, Golmard J, Béhar C, Durif F, Jalenques I, et al. Repetitive behaviours in patients with Gilles de la Tourette syndrome: tics, compulsions, or both?. PLoS ONE. 2010;5:e12959 pubmed publisher..Repetitive behaviours (RB) in patients with Gilles de la Tourette syndrome (GTS) are frequent. However, a controversy persists whether they are manifestations of obsessive-compulsive disorder (OCD) or correspond to complex tics...
- Zeitlin J, Combier E, Levaillant M, Lasbeur L, Pilkington H, Charreire H, et al. Neighbourhood socio-economic characteristics and the risk of preterm birth for migrant and non-migrant women: a study in a French district. Paediatr Perinat Epidemiol. 2011;25:347-56 pubmed publisher..These results raise questions about the health benefits of clustering for migrant communities as well as the negative consequences of acculturation. ..