Publications by authors named "L Le Collen"

Background And Aims: Patients with very early-onset inflammatory bowel disease (VEO-IBD), with an age of onset < 6 years, can present with severe manifestations and may require biologic therapy. Infliximab and adalimumab are approved for induction and maintenance in pediatric IBD patients but are licensed only above the age of 6 years. Effectiveness and safety data on adalimumab in this patient population are lacking.

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We describe for the first time the case of a woman presenting with Tatton-Brown-Rahman syndrome (TBRS) and multiple endocrine neoplasia (MEN). She developed primary hyperparathyroidism at age 13, a pituitary cyst at age 14, adrenal tumor at age 21, and metastatic insulinoma at age 34. In addition, she showed intellectual disability, obesity, multiple lipomas, facial dysmorphia, hemihypertrophy and kyphoscoliosis.

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Background:  In young women with venous thromboembolism (VTE) related to weak transient risk factors, it remains unknown whether stress levels and intimate partner violence (IPV) are associated with recurrence. The VTE-WEAK study aims to investigate the association between perceived stress and IPV with a recurrence of VTE in women with a first episode of VTE due to combined oral contraceptives, pregnancy-puerperium, minor trauma/fracture, brief surgery, infection or brief immobility, and not using antithrombotic prophylaxis.

Material And Methods:  We performed a multicenter, international, observational, retrospective study on women referred for thrombophilia screening who were subsequently monitored.

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Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.

Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.

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Article Synopsis
  • * A study analyzed LEPR variants in about 10,000 participants, identifying 86 rare heterozygous variants and confirming 12 as pathogenic, but most individuals with these variants did not show signs of obesity.
  • * The findings suggest no direct link between pathogenic LEPR variants and obesity risk or body mass index (BMI), raising concerns about prescribing setmelanotide based solely on the presence of these variants.
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