J Eur Acad Dermatol Venereol - issue: - volume: - pages: .

BACKGROUND: Among children or adolescents suffering from obesity, 40-70,5% will remain obese as adults according to their paediatric BMI. The recommended management involves changes in their...
BJGP Open - issue: - volume: - pages: BJGPO.2022.0145.

PURPOSE: KCNQ2 neonatal developmental and epileptic encephalopathy (NEO-DEE) is characterized by intractable seizures accompanied by an abnormal neurodevelopment. In a mouse model of NEO-DEE carrying...
Epilepsy Res - issue: - volume: 193 - pages: 107160.

PURPOSE: Recessive deficiency of proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the melanocortin 4 receptor agonist setmelanotide. Furthermore, a phase 3...
Genet Med - issue: 7 - volume: 25 - pages: 100857.

Ann Pathol - issue: 4 - volume: 43 - pages: 348-351.

AIM: To compare the outcomes of home-based and conventional hospital-based care for children newly diagnosed with type 1 diabetes mellitus. METHODS: A descriptive study was conducted of all children...
Prim Care Diabetes - issue: - volume: - pages: S1751-9918(23)00110-9.

BACKGROUND: Chronic kidney disease is associated with a significant decrease in muscle strength and mass, possibly related to muscle cell damage by uremic toxins. Here, we studied in vitro and in vivo...
Nephrol Dial Transplant - issue: - volume: - pages: gfad123.

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures...
Eur J Hum Genet - issue: - volume: - pages: .

Developmental and epileptic encephalopathies (DEE) are a group of neurodevelopmental disorders characterized by epileptic seizures associated with developmental delay or regression. DEE are...
Epilepsia - issue: 6 - volume: 64 - pages: e127-e134.

Deficient anterior pituitary with common variable immune deficiency (DAVID) syndrome is a rare condition characterized by adrenocorticotropic hormone (ACTH) deficiency and primary...
J Neuroendocrinol - issue: 6 - volume: 35 - pages: e13287.

EWSR1/FUS-CREB-rearranged mesenchymal neoplasms are an emerging heterogeneous group of soft tissue tumors that encompasses low-grade lesions (angiomatoid fibrous histiocytoma/AFH) and a group of...
Virchows Arch - issue: 6 - volume: 482 - pages: 967-974.

During the patient interview, signs of compression or invasion are sought out: dyspnea, dysphagia, dysphonia. The circumstances of discovery of the thyroid pathology are indicated. The surgeon must be...
J Visc Surg - issue: 3S - volume: 160 - pages: S65-S68.

Pathology - issue: 4 - volume: 55 - pages: 562-564.

CONTEXT: Prospective studies have demonstrated the efficacy of osilodrostat in Cushing disease. No study has evaluated osilodrostat in a series of patients with paraneoplastic Cushing syndrome/ectopic...
J Clin Endocrinol Metab - issue: 6 - volume: 108 - pages: 1475-1487.

Background: Genetic cardiomyopathy is a rare disease in childhood. Aims: To analyse clinical and genetic aspects of a paediatric cardiomyopathy population, and to establish genotype-phenotype...
Arch Cardiovasc Dis. - issue: 6-7 - volume: 116 - pages: 309-315.

Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by pathogenic variants in the DYSF gene. While several animal models of dysferlinopathy have been developed, most of...
Biomedicines - issue: 5 - volume: 11 - pages: 1438.

Eur J Endocrinol - issue: 5 - volume: 188 - pages: C9-C10.

Giant axonal neuropathy (GAN) is a fatal neurodegenerative disorder for which there is currently no treatment. Affecting the nervous system, GAN starts in infancy with motor deficits that rapidly...
EMBO Mol Med - issue: - volume: - pages: e16267.

CONTEXT: Cortisol-lowering drugs may not restore a normal cortisol secretion in Cushing's disease (CD). OBJECTIVE: Assess the long-term cortisol exposure in medically treated CD patients using...
J Clin Endocrinol Metab - issue: - volume: - pages: dgad251.

Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory neurons or Schwann cells of the peripheral nervous...
Brain - issue: 5 - volume: 146 - pages: 1844-1858.