Genomes and Genes
Experts and Doctors on infant in Paris, Île de France, France
Locale: Paris, Île de France, France
Publications578 found, 100 shown here
- Perrault I, Hamdan F, Rio M, Capo Chichi J, Boddaert N, Decarie J, et al. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Am J Hum Genet. 2014;94:891-7 pubmed publisher..All together, these observations suggest that loss of DOCK7 function causes a syndromic form of epileptic encephalopathy by affecting multiple neuronal processes. ..
- Lepoutre A, Varon E, Georges S, DorlÃ©ans F, Janoir C, Gutmann L, et al. Impact of the pneumococcal conjugate vaccines on invasive pneumococcal disease in France, 2001-2012. Vaccine. 2015;33:359-66 pubmed publisher..Considering the whole 2001-2012 period, the vaccination with PCV7 and PCV13 resulted in a decline in the incidence of IPD in children up to the age of 5 but not in older children and adults. ..
- Hue S, Monteiro R, Berrih Aknin S, Caillat Zucman S. Potential role of NKG2D/MHC class I-related chain A interaction in intrathymic maturation of single-positive CD8 T cells. J Immunol. 2003;171:1909-17 pubmed
- 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...
- Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, et al. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A. 2004;126A:18-26 pubmed..This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html. ..
- Goulet O, Ruemmele F, Lacaille F, Colomb V. Irreversible intestinal failure. J Pediatr Gastroenterol Nutr. 2004;38:250-69 pubmed..This review discusses the causes of irreversible IF and emphasizes the specific medico-surgical strategies for prevention and treatment of these conditions at several stages of IF. ..
- Delarasse C, Della Gaspera B, Lu C, Lachapelle F, Gelot A, Rodriguez D, et al. Complex alternative splicing of the myelin oligodendrocyte glycoprotein gene is unique to human and non-human primates. J Neurochem. 2006;98:1707-17 pubmed publisher..These findings are discussed within the framework of a biological basis for phenotype diversity in recent mammalian evolution and for the notoriously variable clinical expression of diseases such as multiple sclerosis...
- Chapgier A, Boisson Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka Chalufour A, et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet. 2006;2:e131 pubmed..These STAT1 alleles define two forms of dominant STAT1 deficiency, depending on whether the mutations impair STAT1 phosphorylation or DNA binding. ..
- Plancoulaine S, Gessain A, Tortevoye P, Boland Auge A, Vasilescu A, Matsuda F, et al. A major susceptibility locus for HTLV-1 infection in childhood maps to chromosome 6q27. Hum Mol Genet. 2006;15:3306-12 pubmed
- Di Rocco F, Roujeau T, Puget S, Peyre M, Zerah M. Slow-growing lambdoid melanotic neuroectodermal tumor of infancy. Eur J Pediatr. 2007;166:739-41 pubmed..To illustrate this latter presentation, we present a case of a slowly growing melanotic neuroectodermal tumor of infancy located on the right lambdoid suture...
- Raymond J, Armengaud J, Cosnes Lambe C, Chalumeau M, Bosdure E, Reglier Poupet H, et al. Pertussis in young infants: apnoea and intra-familial infection. Clin Microbiol Infect. 2007;13:172-175 pubmed publisher..28%). It was concluded that real-time PCR performed with samples from household contacts facilitates the diagnosis of infants suspected clinically of having pertussis, thereby enabling earlier treatment. ..
- Zhang S, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science. 2007;317:1522-7 pubmed..Human TLR3 appears to be redundant in host defense to most microbes but is vital for natural immunity to HSV-1 in the CNS, which suggests that neurotropic viruses have contributed to the evolutionary maintenance of TLR3...
- Fremeaux Bacchi V, Miller E, Liszewski M, Strain L, Blouin J, Brown A, et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood. 2008;112:4948-52 pubmed publisher..We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS. ..
- Amiel J, Dubreuil V, Ramanantsoa N, Fortin G, Gallego J, Brunet J, et al. PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models. Respir Physiol Neurobiol. 2009;168:125-32 pubmed publisher..To date, the reason for the selective vulnerability of RTN/pFRG neurons to PHOX2B protein dysfunction remains unexplained. ..
- Rocha V, Gluckman E. Improving outcomes of cord blood transplantation: HLA matching, cell dose and other graft- and transplantation-related factors. Br J Haematol. 2009;147:262-74 pubmed publisher..This review will focus on the interactions between HLA, cell dose and other modifiable factors related to the UCB unit selection and transplantation that may improve outcomes after UCB transplantation. ..
- Bang G, Prieur E, Roussilhon C, Druilhe P. Pre-clinical assessment of novel multivalent MSP3 malaria vaccine constructs. PLoS ONE. 2011;6:e28165 pubmed publisher..These findings are promising for future immunization of genetically diverse human populations. ..
- Donadille B, Rousseau A, Zenaty D, Cabrol S, Courtillot C, Samara Boustani D, et al. Cardiovascular findings and management in Turner syndrome: insights from a French cohort. Eur J Endocrinol. 2012;167:517-22 pubmed publisher..The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults...
- Mueller J, Yaro S, Ouedraogo M, Levina N, Njanpop Lafourcade B, Tall H, et al. Pneumococci in the African meningitis belt: meningitis incidence and carriage prevalence in children and adults. PLoS ONE. 2012;7:e52464 pubmed publisher..The development of optimal vaccination strategies for pneumococcal conjugate vaccines requires serotype-specific data on disease incidence and carriage prevalence. This information is lacking for the African meningitis belt...
- Feghoul L, Salmona M, Chérot J, Fahd M, Dalle J, Vachon C, et al. Evaluation of a New Device for Simplifying and Standardizing Stool Sample Preparation for Viral Molecular Testing with Limited Hands-On Time. J Clin Microbiol. 2016;54:928-33 pubmed publisher..The use of the SPD for the detection of other gastrointestinal infections warrants further evaluation. ..
- Miot C, Imai K, Imai C, Mancini A, Kucuk Z, Kawai T, et al. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood. 2017;130:1456-1467 pubmed publisher..Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations. ..
- 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. ..
- Dubos F, Moulin F, Gajdos V, de Suremain N, Biscardi S, Lebon P, et al. Serum procalcitonin and other biologic markers to distinguish between bacterial and aseptic meningitis. J Pediatr. 2006;149:72-6 pubmed..95 and 0.93, respectively. PCT and CSF protein had the best predictive value to distinguish between bacterial and aseptic meningitis in children. ..
- Garabedian M. Regulation of phosphate homeostasis in infants, children, and adolescents, and the role of phosphatonins in this process. Curr Opin Pediatr. 2007;19:488-91 pubmed..From a clinical point of view, these findings offer new tools for the diagnosis of hypophosphatemic rickets (biologic, genetic, imaging techniques) and open the way to new treatment strategies. ..
- Guerin V, Leniaud L, Pedron B, Guilmin Crepon S, Tubiana Rufi N, Sterkers G. HLA-associated genetic resistance and susceptibility to type I diabetes in French North Africans and French natives. Tissue Antigens. 2007;70:214-8 pubmed..08) than for DRB1*1101-DQA1*0505-DQB1*0301 (OR: 0.32), common in natives. How DRB1*11 subtypes might affect differently the risk conferred by DQA1*0505-DQB1*0301 will be discussed. ..
- Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri J, Andria G, et al. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology. 2009;73:962-9 pubmed publisher..Borderline microcephaly at birth, borderline-normal intellectual efficiency, and brain malformations can occur in ASPM-related primary hereditary microcephaly. ..
- Touboul C, Picone O, Levaillant J, Boithias C, Frydman R, Boulvain M, et al. Clinical application of fetal urine production rate in unexplained polyhydramnios. Ultrasound Obstet Gynecol. 2009;34:521-5 pubmed publisher..Children with prenatal unexplained polyhydramnios and HFUPR above the 95(th) centile should nevertheless receive detailed pediatric follow-up. ..
- Rieder H, Lauritsen J, Naranbat N, Katamba A, Laticevschi D, Mabaera B. Quantitative differences in sputum smear microscopy results for acid-fast bacilli by age and sex in four countries. Int J Tuberc Lung Dis. 2009;13:1393-8 pubmed..Females tended to have lower bacillary counts, and low-grade positivity was more frequent at the extremes of age. These results reinforce the need for appropriate instructions on how to produce high-quality sputum to improve yield. ..
- Bollée G, Dollinger C, Boutaud L, Guillemot D, Bensman A, Harambat J, et al. Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency. J Am Soc Nephrol. 2010;21:679-88 pubmed publisher..Early diagnosis is crucial for initiation of effective treatment with allopurinol and for prevention of renal complications. ..
- Mechri M, Epaud R, Emond S, Coulomb A, Jaubert F, Tarrant A, et al. Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis. Pediatr Pulmonol. 2010;45:1021-9 pubmed publisher..In children with SFTPC mutations, HRCT scan finding was highly correlated to the histological findings and, as such, represent a useful tool to identify patients that may require SFTPC gene sequencing. ..
- Bouillon Pichault M, Jullien V, Bazzoli C, Pons G, Tod M. Pharmacokinetic design optimization in children and estimation of maturation parameters: example of cytochrome P450 3A4. J Pharmacokinet Pharmacodyn. 2011;38:25-40 pubmed publisher..First-pass effects, alternative elimination routes, and combined elimination pathways should also be investigated. ..
- Hautefort C, Teissier N, Viala P, Van den Abbeele T. Balloon dilation laryngoplasty for subglottic stenosis in children: eight years' experience. Arch Otolaryngol Head Neck Surg. 2012;138:235-40 pubmed publisher..Balloon dilation laryngoplasty is an efficient and safe technique for the treatment of both primary and secondary pediatric laryngotracheal stenosis. ..
- Frange P, Touzot F, Debre M, Héritier S, Leruez Ville M, Cros G, et al. Prevalence and clinical impact of norovirus fecal shedding in children with inherited immune deficiencies. J Infect Dis. 2012;206:1269-74 pubmed..1% of fecal samples were still positive after a median of 9.5-months follow-up. Further large longitudinal studies are needed to evaluate the clinical consequences of norovirus shedding in patients with primary immunodeficiencies. ..
- Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi Semerano L, Berger M, et al. The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients. Orphanet J Rare Dis. 2012;7:77 pubmed publisher..3% (14.1%-26.5%) and 19.8% (13.5%-26.1%). This registry enabled the epidemiological description of GD in France and showed that BE occur even during treatment. ..
- Thouvenin B, Djadi Prat J, Chalouhi C, Pierrot S, Lyonnet S, Couly G, et al. Developmental outcome in Pierre Robin sequence: a longitudinal and prospective study of a consecutive series of severe phenotypes. Am J Med Genet A. 2013;161A:312-9 pubmed publisher..Global developmental quotient scores were lower but not significantly for children with an associated Stickler syndrome than those with isolated PRS. Children with isolated PRS showed good prognosis...
- Guérin T, Le Calvez E, Zinck J, Bemrah N, Sirot V, Leblanc J, et al. Levels of lead in foods from the first French total diet study on infants and toddlers. Food Chem. 2017;237:849-856 pubmed publisher..Lead was detected in most samples at relatively low concentrations (range 0.0-16µgkg-1). The highest lead concentrations were mainly found in processed food products (e.g. products containing chocolate). ..
- Wakkach A, Chastre E, Bruand C, Cohen Kaminsky S, Emami S, Gespach C, et al. Phenotypic and functional characterization of human thymic stromal cell lines. Cell Mol Biol (Noisy-le-grand). 2001;47:167-78 pubmed..Altogether, these results reveal phenotypic and functional differences between these two stromal cell types, suggesting a potential involvement of myoid cells in the thymic function. ..
- Bodak N, Hadj Rabia S, Hamel Teillac D, De Prost Y, Bodemer C. Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism. Arch Dermatol. 2003;139:201-4 pubmed..We discuss the role of a proinflammatory cytokine such as tumor necrosis factor alpha as a triggering factor for the reactivation. ..
- Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, et al. Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases. Thromb Haemost. 2003;90:893-7 pubmed..In summary, this study documents ten new cases of PTS with characteristic alpha-granule abnormalities, and shows the putative pathogenic role of fli-1 gene in the pathophysiology of this syndrome. ..
- Thibault H, Aubert Jacquin C, Goulet O. Effects of long-term consumption of a fermented infant formula (with Bifidobacterium breve c50 and Streptococcus thermophilus 065) on acute diarrhea in healthy infants. J Pediatr Gastroenterol Nutr. 2004;39:147-52 pubmed..To determine whether long-term consumption of a fermented infant formula could influence the incidence of acute diarrhea and its severity in healthy infants...
- 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)...
- Sellier Leclerc A, Fremeaux Bacchi V, Dragon Durey M, Macher M, Niaudet P, Guest G, et al. Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2007;18:2392-400 pubmed..New therapies are urgently needed, and further research should elucidate the unexplained HUS group...
- Passemard S, Gelot A, Fogli A, N guyen S, Barnerias C, Niel F, et al. Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families. Neurology. 2007;69:400-2 pubmed
- Hacein Bey Abina S, Garrigue A, Wang G, Soulier J, Lim A, Morillon E, et al. Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1. J Clin Invest. 2008;118:3132-42 pubmed publisher..Successful chemotherapy was associated with restoration of polyclonal transduced T cell populations. As a result, the treated patients continued to benefit from therapeutic gene transfer...
- Orbach D, Rey A, Cecchetto G, Oberlin O, Casanova M, Thebaud E, et al. Infantile fibrosarcoma: management based on the European experience. J Clin Oncol. 2010;28:318-23 pubmed publisher..An alkylating agent-free and anthracycline-free regimen is usually effective and should be chosen as first-line chemotherapy for inoperable tumors. Overall prognosis is good, but progression or relapse, mainly local, remains possible. ..
- Giraud C, Dussau J, Azouguene E, Feillet F, Puech J, Caillaud C. Rapid identification of HEXA mutations in Tay-Sachs patients. Biochem Biophys Res Commun. 2010;392:599-602 pubmed publisher..The time-saving procedure reported here could be useful for the characterization of Tay-Sachs-causing mutations, in particular in non-Ashkenazi patients mainly exhibiting rare mutations. ..
- Machuca E, Benoit G, Nevo F, Tete M, Gribouval O, Pawtowski A, et al. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol. 2010;21:1209-17 pubmed publisher..In summary, these data demonstrate that CNS is not a distinct clinical entity in non-Finnish populations but rather a clinically and genetically heterogeneous group of disorders. ..
- Chandesris M, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore). 2012;91:e1-19 pubmed publisher..Overall, the prognosis of STAT3 deficiency may be considered good, provided that multiple prophylactic measures, including IgG infusions, are implemented. ..
- Dana C, Aurégan J, Salon A, Guéro S, Glorion C, Pannier S. Recurrence of radial bowing after soft tissue distraction and subsequent radialization for radial longitudinal deficiency. J Hand Surg Am. 2012;37:2082-7 pubmed publisher..Prior soft tissue distraction has been introduced to improve reducibility of the deformity without skeletal resection. Satisfying long-term effects have been reported with centralization but are still unclear with radialization...
- Gitiaux C, Krug P, Grevent D, Kossorotoff M, Poncet S, Eisermann M, et al. Brain magnetic resonance imaging pattern and outcome in children with haemolytic-uraemic syndrome and neurological impairment treated with eculizumab. Dev Med Child Neurol. 2013;55:758-65 pubmed publisher..These results call for further evaluation of the potential role of eculizumab in the choice of treatment for severe D+HUS, particularly in the case of early neurological signs. ..
- Gessner B, Brooks W, Neuzil K, Vernet G, Bright R, Tam J, et al. Vaccines as a tool to estimate the burden of severe influenza in children of low-resourced areas (November 30-December 1, 2012, Les Pensieres, Veyrier-du-Lac, France). Vaccine. 2013;31:3222-8 pubmed publisher..Should countries implement this strategy, infants age 6-23 months likely would remain at increased risk; vaccine probe approaches could quantify the public health benefit of immunizing this group. ..
- Toutous Trellu L, Nkemenang P, Comte E, Ehounou G, Atangana P, Mboua D, et al. Differential Diagnosis of Skin Ulcers in a Mycobacterium ulcerans Endemic Area: Data from a Prospective Study in Cameroon. PLoS Negl Trop Dis. 2016;10:e0004385 pubmed publisher..001). Children had more superficial bacterial infections (24.3%) and osteomyelitis (11.4%). We described differential diagnosis of skin lesions in a BU endemic area, stratifying results by age and HIV-status. ..
- Pearson A, Pfister S, Baruchel A, Bourquin J, Casanova M, Chesler L, et al. From class waivers to precision medicine in paediatric oncology. Lancet Oncol. 2017;18:e394-e404 pubmed publisher..These initiatives and a mechanism of action-based approach to drug development will accelerate the delivery of new therapeutic drugs for front-line therapy for those children who have unmet medical needs. ..
- Leroy S, Marc E, Adamsbaum C, Gendrel D, Breart G, Chalumeau M. Prediction of vesicoureteral reflux after a first febrile urinary tract infection in children: validation of a clinical decision rule. Arch Dis Child. 2006;91:241-4 pubmed..The reproducibility of the previously proposed decision rule was poor and its potential contribution to clinical management of children with febrile urinary tract infection seems to be modest. ..
- Oude Luttikhuis H, Touati G, Rabier D, Williams M, Jakobs C, Saudubray J. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation. J Inherit Metab Dis. 2005;28:1136-8 pubmed..Only a few cases with severe clinical presentation have been described. Profound hypoglycaemia is an uncommon but life-threatening complication. ..
- Crimmins D, Pierre Kahn A, Sainte Rose C, Zerah M. Treatment of suprasellar cysts and patient outcome. J Neurosurg. 2006;105:107-14 pubmed..The authors sought to determine the natural history of and optimal treatment for suprasellar cysts (SSCs)...
- Titomanlio L, Bargui F, Gibertini G, Siriez J, Mercier J. Quest for the diagnosis. Case 2: A child with abnormal ocular movements. Acta Paediatr. 2007;96:1097-8 pubmed
- 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...
- Jehanne M, Lumbroso Le Rouic L, Savignoni A, Aerts I, Mercier G, Bours D, et al. Analysis of ototoxicity in young children receiving carboplatin in the context of conservative management of unilateral or bilateral retinoblastoma. Pediatr Blood Cancer. 2009;52:637-43 pubmed publisher..7 years (0-7.6). No other risk factor for ototoxicity was able to account for these lesions. Children receiving carboplatin require long-term audiometric follow-up. ..
- Marvillet I, Terrada C, Quartier P, Quoc E, Bodaghi B, Prieur A. Ocular threat in juvenile idiopathic arthritis. Joint Bone Spine. 2009;76:383-8 pubmed publisher..Uveitis is a severe complication of JIA. Patients with JIA should receive routine ophthalmological follow-up at regular intervals, even is their joint disease is quiescent. ..
- Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, et al. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition. Eur J Hum Genet. 2010;18:285-90 pubmed publisher..This family broadens the phenotypic spectrum of FMR1 anomalies in an unexpected manner, and we suggest that this condition may represent the fragile X syndrome "contre-type". ..
- Garabedian E, Pezzettigotta S, Leboulanger N, Harris R, Nevoux J, Denoyelle F, et al. Endoscopic surgical treatment of laryngotracheal clefts: indications and limitations. Arch Otolaryngol Head Neck Surg. 2010;136:70-4 pubmed publisher..The results of this technique are entirely satisfactory, and we suggest that it is suitable as a primary procedure for the treatment of type I, II, and III clefts extending to the cervical trachea, including in neonates. ..
- Putoux A, Thomas S, Coene K, Davis E, Alanay Y, Ogur G, et al. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011;43:601-6 pubmed publisher..Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies. ..
- Le Monnier A, Abachin E, Beretti J, Berche P, Kayal S. Diagnosis of Listeria monocytogenes meningoencephalitis by real-time PCR for the hly gene. J Clin Microbiol. 2011;49:3917-23 pubmed publisher..monocytogenes. In addition, the quantitative results provided may, in some instances, be useful for the follow-up of patients under treatment. ..
- Roumenina L, Frimat M, Miller E, Provot F, Dragon Durey M, Bordereau P, et al. A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function. Blood. 2012;119:4182-91 pubmed publisher..These results demonstrate that this C3 mutation, especially when associated with an at-risk FH and/or MCP haplotypes, becomes pathogenic following an inflammatory endothelium-damaging event. ..
- Basmaci R, Ilharreborde B, Bidet P, Doit C, Lorrot M, Mazda K, et al. Isolation of Kingella kingae in the oropharynx during K. kingae arthritis in children. Clin Microbiol Infect. 2012;18:E134-6 pubmed publisher..kingae arthritis. Throat culture was 5.6-fold more sensitive than joint fluid cultures in isolating K. kingae (66.7% vs. 11.9% respectively, p?<0.001) and may be used to perform antibiotic susceptibility testing...
- Gaignard P, Fagart J, Niemir N, Puech J, Azouguene E, Dussau J, et al. Characterization of seven novel mutations on the HEXB gene in French Sandhoff patients. Gene. 2013;512:521-6 pubmed publisher..176del. Finally, this study reports a rapid detection of the Sandhoff disease-causing alleles facilitating genetic counselling and prenatal diagnosis in at-risk families. ..
- Dautriche I, Swingley D, Christophe A. Learning novel phonological neighbors: Syntactic category matters. Cognition. 2015;143:77-86 pubmed publisher..We conclude that when creating a novel lexical entry, toddlers' evaluation of similarity in the lexicon is multidimensional, incorporating both phonological and semantic or syntactic features. ..
- Taylor W, Naw H, Maitland K, Williams T, Kapulu M, D Alessandro U, et al. Single low-dose primaquine for blocking transmission of Plasmodium falciparum malaria - a proposed model-derived age-based regimen for sub-Saharan Africa. BMC Med. 2018;16:11 pubmed publisher..5 - 11 years. If the regimen is safe and demonstrates adequate pharmacokinetics, it should be used to support malaria elimination. ..
- Lambert Zechovsky N, Mariani Kurkdjian P, Doit C, Bourgeois F, Bingen E. In-vitro bactericidal activity of four oral antibiotics against pathogens responsible for acute otitis media in children. J Hosp Infect. 1992;22 Suppl A:89-97 pubmed..Cefaclor had no bactericidal action under these conditions. ..
- Klein C, Cavazzana Calvo M, Le Deist F, Jabado N, Benkerrou M, Blanche S, et al. Bone marrow transplantation in major histocompatibility complex class II deficiency: a single-center study of 19 patients. Blood. 1995;85:580-7 pubmed..HLA-haploidentical BMT should preferably be performed in the first 2 years of life, before the acquisition of chronic virus carriage and sequelae of infections. ..
- Brunialti A, Poirier C, Schmalbruch H, Guenet J. The mouse mutation progressive motor neuronopathy (pmn) maps to chromosome 13. Genomics. 1995;29:131-5 pubmed..The presence of the Extra-toe (Xt) locus in proximity to pmn will help in the detection of affected progenies before the onset of the degenerative process. ..
- 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
- de Villartay J, Lim A, Al Mousa H, Dupont S, Dechanet Merville J, Coumau Gatbois E, et al. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest. 2005;115:3291-9 pubmed..This observation extends the range of clinical and immunological phenotypes associated with RAG mutations, emphasizing the role of the genetic background and microbial environment in determining disease phenotype. ..
- Gilbert A, Pivato G, Kheiralla T. Long-term results of primary repair of brachial plexus lesions in children. Microsurgery. 2006;26:334-42 pubmed..We also review our series of traumatic brachial plexus palsy in children. The results are poorer than in neonates, where may be related, in part, to a greater percentage of associated lesions in these patients. ..
- Grimprel E, Levy C, de La Rocque F, Cohen R, Soubeyrand B, Caulin E, et al. Paediatric varicella hospitalisations in France: a nationwide survey. Clin Microbiol Infect. 2007;13:546-9 pubmed..1%). Forty-nine patients had sequelae and eight patients died. Surveillance should continue in France with a view to the future implementation of a universal vaccination programme. ..
- Polak M, Dechaume A, Cave H, Nimri R, Crosnier H, Sulmont V, et al. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. Diabetes. 2008;57:1115-9 pubmed publisher..Our study aimed to investigate the genetic anomalies and clinical heterogeneity in PND patients who are negative for a K(ATP) channel mutation...
- Malinge S, Ragu C, Della Valle V, Pisani D, Constantinescu S, Perez C, et al. Activating mutations in human acute megakaryoblastic leukemia. Blood. 2008;112:4220-6 pubmed publisher..Finally, we report a novel constitutively active MPL mutant, MPLT487A, observed in a non-Down syndrome childhood AMKL that induces a myeloproliferative disease in mouse bone marrow transplantation assay. ..
- Monnot S, Serre V, Chadefaux Vekemans B, Aupetit J, Romano S, de Lonlay P, et al. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. Hum Mutat. 2009;30:734-40 pubmed publisher..Finally, although most PC mutations are suggested to interfere with biotin metabolism, none of the PC-deficient patients was biotin-responsive...
- Kerneis S, Boelle P, Grais R, Pavillon G, Jougla E, Flahault A, et al. Mortality trends in systemic sclerosis in France and USA, 1980-1998: an age-period-cohort analysis. Eur J Epidemiol. 2010;25:55-61 pubmed publisher..Stabilization in the following birth cohorts suggests that the increase of mortality observed since 1980 may slow down in the near future. ..
- Barth M, Ottolenghi C, Hubert L, Chretien D, Serre V, Gobin S, et al. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis. 2010;33 Suppl 3:S443-53 pubmed publisher..They might all interact with H2S toxicity. Prolonged dietary interventions involving the restriction for branched aminoacids, fatty acids and methionine could be discussed as auxiliary therapeutical strategies in EE. ..
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- Lienhardt A, Mas J, Kalifa G, Chaussain J, Tauber M. IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. Horm Res. 2002;57 Suppl 2:71-8 pubmed..If this symptom is part of the syndrome, which we cannot assume, it could help to localize the candidate gene. ..