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 detailTriiodothyronine-predominant Graves’ disease in childhood: detection and therapeutic implications
HARVENGT, Julie ULiege; boizeau, priscilla; chevenne, didier et al

in European Journal of Endocrinology (2015), 172(6), 715-723

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See detailJAWAC evolving technologies to study sleep disturbance in obese adolescents - a preliminary study
Barrea, Christophe ULiege; HARVENGT, Julie ULiege; LEBRETHON, Marie-Christine ULiege et al

in Tijdschrift van de Belgische Kinderarts (2015, January), 17(1), 107

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See detailAutoimmune thyroid diseases in early childhood three case reports
Guffins, Amandine ULiege; HARVENGT, Julie ULiege; LUYCKX, F. et al

in Tijdschrift van de Belgische Kinderarts (2015, January), 17(1), 41

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See detailPromotion of physical activity among children and adolescents followed for overweight or obesity in
DEWANDRE, Anne-Cécile ULiege; HARVENGT, Julie ULiege; LAGASSE, Celine ULiege et al

in Tijdschrift van de Belgische Kinderarts (2015, January), 17(1), 40

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See detailClinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
HARVENGT, Julie ULiege; wanty, catherine; De Paepe, Boel et al

in Molecular Genetics and Metabolism Reports (2014)

A one year old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the ... [more ▼]

A one year old girl born to consanguineous parents presented with unexplained liver failure, leading to transplantation at 19 months. Subsequent partial splenectomy for persistent cytopenia showed the presence of foamy cells, and Gaucher disease was confirmed by homozygosity for the p.Leu483Pro mutation in the GBA gene. She was treated by enzyme replacement therapy (ERT). Clinical follow-up showed mild developmental delay, strabism, nystagmus and oculomotor apraxia. Biochemical studies revealed multiple respiratory chain deficiencies and a mosaic pattern of deficient complex IV immunostaining in liver and fibroblast. Molecular analysis identified a mtDNA depletion syndrome due to the homozygous p.Pro98Leu mutation in MPV17. A younger sister unaffected by mtDNA depletion, presented with pancytopenia and hepatosplenomegaly. ERT for Gaucher disease resulted in visceral normalization, without any neurological symptom. A third sister, affected by both conditions, had marked developmental delay, strabism and ophthalmoplegia but no liver cirrhosis. In conclusion, intrafamilal variability occurs in MPV17 related disease. The combined pathological effect of Gaucher and mitochondrial diseases can negatively impact neurological and liver functions, and influence the outcome in consanguineous families. Immunocytochemical staining of OXPHOS protein in tissues and cultured cells is a powerful tool revealing mosaic pattern of deficiency pointing to mtDNA related mitochondrial disorders. [less ▲]

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See detailMultiple pitfalls in the diagnosis of a complex liver disease
HARVENGT, Julie ULiege; Wanty, Catherine; Lissens, Willy et al

Conference (2013, June 14)

A one year old girl, born to consanguineous parents, presented with unexplained liver disease. Liver biopsies revealed respiratory chain complex I and IV deficiencies. Progressive liver failure at 19 ... [more ▼]

A one year old girl, born to consanguineous parents, presented with unexplained liver disease. Liver biopsies revealed respiratory chain complex I and IV deficiencies. Progressive liver failure at 19 months led to liver transplantation. One year later, anemia and thrombocytopenia occurred due to hypersplenism. Histopathological analyses of partial splenectomy showed the presence of Gaucher cells, and Gaucher disease was confirmed by enzyme and genetic analyses. Respiratory chain deficiency was considered as a possible artifact due to liver failure and cirrhosis. She was treated by ERT. Clinical follow-up showed developmental delay, strabism, nystagmus and external ophthalmoplegia. A mitochondrial disorder was considered again, and molecular analysis revealed a mtDNA depletion syndrome due to homozygous MPV17 mutation. In the meantime, a young sister presented with acute abdominal pain, pancytopenia and major hepatosplenomegaly. ERT for Gaucher disease allowed visceral normalization, without any developmental delay or neurological symptom. She was unaffected by the mtDNA depletion syndrome. Unfortunately, a third sister systematically screened, was affected by both conditions. Despite ERT, she presents chronic moderate liver dysfunction and mild hepatomegaly. Aged 3 years, she has marked developmental delay and ophthalmoplegia. Metabolic investigations showed normal blood lactate, in basal condition as well as following an oral glucose load [less ▲]

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See detailNeonatal cirrhosis without iron overload: congenital alloimmune hepatitis
HARVENGT, Julie ULiege; de HALLEUX, Virginie ULiege; GUIDI, Ornella et al

Conference (2011, March 19)

Background. Fetal liver disease is a rare antenatal disorder for which etiology is frequently unknown. Recently, congenital alloimmune hepatitis emerged as a major cause of antenatal liver disease. Its ... [more ▼]

Background. Fetal liver disease is a rare antenatal disorder for which etiology is frequently unknown. Recently, congenital alloimmune hepatitis emerged as a major cause of antenatal liver disease. Its typical presentation can be as a severe neonatal liver failure with hepatic and extrahepatic iron overload, a clinical state called neonatal hemochromatosis. Methods. A pregnant woman was investigated for heterogeneous fetal hepatomegaly. Pregnancy was also complicated by fetal alloimmune thrombocytopenia. The newborn presented at birth with liver cirrhosis and mild liver dysfunction. Follow-up until 36 months showed progressive normalization of all liver parameters. All metabolic and infectious analyses were negative. Liver biopsy showed severe hepatitis with post-necrotic fibrosis and regenerative nodules. There was no iron overload. To search for immune injury, paraffine sections of the liver biopsy were stained with an antibody against the membrane attack complex (MAC, anti human c5b-9, Peter Whitington’s Lab, Children’s Memorial Hospital, Chicago, IL), the terminal complement cascade neoantigen occurring specifically in complement activation by the IgG-mediated classical pathway, and which is responsible for cell death. Results. Strong immunostaining against MAC-antigen was found in the liver of the patient, with 90% of target hepatocytes whereas in a control group of patients with other neonatal liver diseases, it was 10.8±12.5%. Because IgG in neonates originate only from the mother, it signs the alloimmune nature of the disease. Conclusion. For a long time, pathophysiology of neonatal hemochromatosis remained unsolved. Recently, it was elucidated as congenital alloimmune hepatitis. With this case, we expend the recognized clinical spectrum by showing that congenital alloimmune hepatitis can present as milder cases, without iron overload. It should be considered as a cause of unexplained neonatal liver disease, even in the absence of siderosis. Such diagnosis is of great importance regarding the necessity of immunotherapy in further pregnancies in order to avoid recurrence of alloimmune injury [less ▲]

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