Publications of Julie HARVENGT
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See detailPOP1-Skeletal dysplasias : description of two new families
HARVENGT, Julie ULiege; ALKAN, Serpil ULiege; Florkin, Benoît ULiege et al

Poster (2020, June)

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See detailROHHAD(NET) Syndrome: Systematic review of the clinical timeline and recommendations for diagnosis and prognosis.
HARVENGT, Julie ULiege; Gernay, Caroline; Mastouri, Meriem et al

in The Journal of clinical endocrinology and metabolism (2020)

CONTEXT: Rapid onset Obesity with Hypothalamic dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor Syndrome (ROHHHAD(NET)) is a rare and potentially fatal disease. No specific ... [more ▼]

CONTEXT: Rapid onset Obesity with Hypothalamic dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor Syndrome (ROHHHAD(NET)) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. OBJECTIVE: To describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. DESIGN: We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. METHODS: All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the PRISMA individual patient data (IPD) guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, outcome. RESULTS: 43 IPD were analyzed. The timeline of the disease shows rapid onset obesity followed shortly afterwards by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2,2 years after the initial obesity. A NET was reported in 56% of the patients and 70% of these tumors were diagnosed within 2 years after initial weight gain. CONCLUSION: Since early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with a rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy. [less ▲]

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See detailGenetic and phenotypic spectrum associated with IFIH1 gain-of-function
Rice, Gillian I.; DEBRAY, François-Guillaume ULiege; HARVENGT, Julie ULiege et al

in Human Mutation (2020)

IFIH1 gain‐of‐function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi–Goutières syndrome and Singleton Merten syndrome ... [more ▼]

IFIH1 gain‐of‐function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi–Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through a European and North American collaboration, we set out to describe the molecular, clinical and interferon status of a cohort of individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 individuals from 51 families segregating a total of 27 likely pathogenic mutations in IFIH1. Ten adult individuals, 13.5% of all mutation carriers, were clinically asymptomatic (with seven of these aged over 50 years). All mutations were associated with enhanced type I interferon signaling, including six variants (22%) which were predicted as benign according to multiple in silico pathogenicity programs. The identified mutations cluster close to the ATP binding region of the protein. These data confirm variable expression and nonpenetrance as important characteristics of the IFIH1 genotype, a consistent association with enhanced type I interferon signaling, and a common mutational mechanism involving increased RNA binding affinity or decreased efficiency of ATP hydrolysis and filament disassembly rate. [less ▲]

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See detailCOL1A2 mutation in a case of isolated short stature
HARVENGT, Julie ULiege; Boros, E.; BULK, Saskia ULiege et al

Poster (2019, March 15)

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See detailPhenotype-genotype correlation in children with neurofibromatosis type 1
BARREA, Christophe ULiege; VAESSEN, Sandrine ULiege; BULK, Saskia ULiege et al

in Neuropediatrics (2018)

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See detailBrain imaging and genetics in patients with congenital hypogonadotropic hypogonadism: a multicenter Belgian study.
VALDES SOCIN, Hernan Gonzalo ULiege; LIBIOULLE, Cécile ULiege; HARVENGT, Julie ULiege et al

in Jorgensen, Jens OL (Ed.) NENEG Abstract Book Communications (2018, April 19)

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See detailComment j'explore les hypoglycémies chez l'enfant : à propos de deux cas
HARVENGT, Julie ULiege; DEBRAY, François-Guillaume ULiege; LEBRETHON, Marie-Christine ULiege et al

in Revue Médicale de Liège (2011), 66(12), 631-635

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See detailDe l'utilité d'une consultation conjointe de gynécologie- endocrinologie pédiatrique : étude rétrospective des motifs de consultation et approche pratique
HARVENGT, Julie ULiege; Retz, M.-C.; Foidart, Jean-Michel ULiege et al

in Revue Médicale de Liège (2011), 66(11), 581-8

The gynaecological issues encountered in children and teenagers lay at the intersection of paediatric endocrinology and gynaecology. More than ten years ago, an outpatient clinic in paediatric ... [more ▼]

The gynaecological issues encountered in children and teenagers lay at the intersection of paediatric endocrinology and gynaecology. More than ten years ago, an outpatient clinic in paediatric endocrinology and gynaecology has been created. Here, we review the last 6 years. 214 girls were included, considering only the first visit for each patient. Collected data are initial concern for this consultation, age at first consultation and confirmed or suspected diagnosis. A classification is done according to the initial concern of patients in six categories. Principal queries concern pubertal development, precocious pilosity or abnormalities in menstrual cycles. Vulvovaginitis and morphologic abnormalities are also frequently encountered. This consultation suggests a paediatric approach with a child feeling confident and a gynaecological examination with a specialist knowing the anatomy particularities and the development of the children. This article focuses on the importance of specific gynaecological examination in children and reviews the main diseases encountered. [less ▲]

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