The benefits of decompressive craniectomy (DC) have been demonstrated in malignant ischemic stroke and traumatic brain injuries with refractory intracranial hypertension (ICH) by randomized controlled...
J Neurosurg Sci - issue: 2 - volume: 67 - pages: 248-256.

OBJECTIVE: The Treatment of Brain Arteriovenous Malformations Study (TOBAS) is a pragmatic study that includes 2 randomized trials and registries of treated or conservatively managed patients. The...
J Neurosurg - issue: 4 - volume: 138 - pages: 891-899.

Antisecretory data shows a highly effective and prolonged blockade of cortisol secretion with osilodrostat. The drawback is the occurrence of adrenal insufficiency (AI) in roughly a quarter of treated...
Clin Endocrinol (Oxf) - issue: 4 - volume: 98 - pages: 629-630.

Scientific advances constantly improve our understanding of the mechanisms underlying tumorigenesis, allowing us now to analyze cancer in a more precise manner and to identify at an earlier stage the...
Ann Endocrinol (Paris) - issue: 2 - volume: 84 - pages: 291-297.

INTRODUCTION: Although the reduction of traumatic fractures of the thoracolumbar spine is of good quality during conventional so-called open procedures, the alternative minimally invasive approach...
Orthop Traumatol Surg Res - issue: 2 - volume: 109 - pages: 103486.

Bicuspid aortic valve (BAV), the most common cardiovascular malformation occurs in 0.5-1.2% of the population. Although highly heritable, few causal mutations have been identified in BAV patients....
Nat Commun - issue: 14 - volume: - pages: 1543.

INTRODUCTION: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted...
J Clin Endocrinol Metab - issue: - volume: - pages: dgad119.

Objective: We propose here cluster-tracking approaches to identify clusters of patients from truncated longitudinal data contained in medico-administrative databases. Material and Methods: We first...
Journal of Biomedical Informatics - issue: - volume: 139 - pages: 104309.

Background Recent studies have shown the implication of the ROBO-SLIT pathway in heart development. Within this study, we aimed to further assess the implication of the ROBO and SLIT genes mainly in...
J Transl Med - issue: 21 - volume: - pages: 160.

The TRAPP (TRAfficking Protein Particle) complexes are evolutionarily conserved tethering factors involved in the intracellular transport of vesicles for secretion and autophagy processes. Pathogenic...
J Med Genet - issue: - volume: - pages: jmedgenet-2022-108677.

Background: Degenerative mitral regurgitation (DMR) due to mitral valve prolapse (MVP) is a common valve disease associated with significant morbidity and mortality. Timing for surgery is debated for...
Front Cardiovasc Med - issue: - volume: - pages: .

Calcium (Ca2+) is the major mediator of cardiac contractile function. It plays a key role in regulating excitation-contraction coupling and modulating the systolic and diastolic phases. Defective...
Int J Mol Sci - issue: 24 - volume: 4 - pages: 3365.

BACKGROUND: Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the...
J Med Genet - issue: 2 - volume: 60 - pages: 183-192.

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 cause variable...
Hum Mol Genet - issue: 3 - volume: 32 - pages: 367-385.

J Eur Acad Dermatol Venereol - issue: 1 - volume: 37 - pages: e45-e48.

Congenital pulmonary vascular anomalies are rare. Antenatal diagnosis of these vascular anomalies requires a good knowledge of fetal cardiac anatomy because clinical presentations are variable. In...
Ultrasound Obstet Gynecol - issue: - volume: 61 - pages: 445–457.

Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders...
Front Cell Dev Biol - issue: - volume: 10 - pages: 1019715.

INTRODUCTION: Congenital central hypothyroidism (CCH) is a rare disorder that can be caused by X-linked mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. Here, we describe four...
Horm Res Paediatr - issue: 3 - volume: 95 - pages: 296-303.

INTRODUCTION: Polycystic ovarian syndrome (PCOS) is the most frequent etiology of anovulation, hyperandrogenism and infertility in women. Its pathophysiology remains poorly elucidated....
Front Endocrinol (Lausanne) - issue: - volume: 13 - pages: 832361.

Isolated ACTH deficiency (IAD) is a life-threatening condition, particularly in the neonatal period, while a main consequence of undiagnosed isolated ACTH deficiency in survivors is cognitive...
Front Endocrinol (Lausanne) - issue: - volume: 13 - pages: 1080649.