Docteur LAURA STEFKO-COMTE

Livres & ouvrages

• 📕

  Polyarthrite rhumatoïde et drépanocytose

  particularités cliniques, biologiques, radiologiques et thérapeutiques : une étude observationnelle rétrospective

  2017 · 132 p.

Source : Google Books — filtre catégories médicales/santé/sciences.

Lieu de consultation

Tarifs & secteur de conventionnement

Secteur de conventionnement non disponible (médecin hospitalier ou non présent dans l'Annuaire santé CNAM des libéraux conventionnés).

Prendre rendez-vous & contact

Lien Doctolib = recherche Google site:doctolib.fr (le 1er résultat est presque toujours le profil correct s'il existe).

Articles de presse (1)

Source : Google News (recherche par nom complet — homonymes possibles, vérifier le contenu).

• Inquiétudes sur la pérennité des soins - Le Canada Français

  📰 Le Canada Français · 10/12/2025

  <a href="https://news.google.com/rss/articles/CBMihAFBVV95cUxNSmxKT3pFY3hhZkkzOXA2MjBFNWlEZ3FhUEhNSnFvVFRhd1pwQU1DWVRiUl9OQU9fQTFTN2FBOXNyRVI0UTE1aWtnTzZFRXROMDg3WGV1MnB5N0dYRmVKNnJTUkpib0ZjZmVhQzBrc01UNmFDM0dBVWxGR1ZQRGRVX1cwWnQ?oc=5" target="_blank">Inquiétudes sur la pérennité des soins</a>&nbsp;

Top publications · les plus citées

• 1

  Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

  Brain : a journal of neurology · 2025

  📚 8 citations🎯 RCR 3.43🔓 Open Access📄 PDF gratuit ↗

  Lire l'abstract Crossref ↓

  Abstract Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease remain to be defined. Notably, a multicentre phase 2/3 study to test the efficacy of govorestat (NCT05397665), a new aldose reductase inhibitor, is currently ongoing. Diagnosing CMT-SORD will become imperative when disease-modifying therapies become available. In this cross-sectional multicentre study, we identified 144 patients from 126 families, including 99 males (69%) and 45 females (31%). Patients represented multiple ancestries, including European, Hispanic, Chinese, Near Eastern and Northern African. We confirmed c.757delG (p.Ala253GlnfsTer27) as the most common pathogenic allele, followed by c.458C&amp;gt;A (p.Ala153Asp), while other variants were identified, mostly in single cases. The average sorbitol level in CMT-SORD patients was significantly higher compared to controls and heterozygous carriers, independently from serum storage duration, sex or variant type. Two-thirds of cases were diagnosed with CMT2 while one-third had distal hereditary motor neuropathy. Disease onset was usually in the second decade of life. Although foot dorsiflexion was the most affected muscle group, dorsal and plantar flexion had a similar degree of weakness in most cases (difference of Medical Research Council score ≤ 1). One-fourth of patients used ankle foot orthoses, usually in their 30s, but most patients maintained independent ambulation later in life. Nerve conduction studies were suggestive of a motor predominant axonal neuropathy, with reduced conduction velocities in the intermediate range in a quarter of the cases. Sensory conductions in the upper limbs appeared more frequently affected than in the lower limbs. Foot dorsiflexion and plantar flexion decreased significantly with age. Male sex was significantly associated with the severity of distal lower limb weakness (plantar flexion) and a larger change over time (dorsiflexion). In conclusion, CMT-SORD is a frequent recessive form of axonal, motor predominant CMT, with prominent foot dorsiflexion and plantar flexion involvement. Fasting serum sorbitol is a reliable biomarker of the condition that can be utilized for pathogenicity assessment of identified rare SORD variants.

• 2

  Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants

  Brain : a journal of neurology · 2026

  📚 3 citations🔓 Open Access

  Lire l'abstract Crossref ↓

  Abstract Charcot-Marie-Tooth disease type 1E (CMT1E) is a rare, autosomal dominant peripheral neuropathy caused by missense variants, deletions, and truncations within the peripheral myelin protein-22 (PMP22) gene. CMT1E phenotypes vary depending on the specific variant, ranging from mild to severe, and there is little natural history and phenotypic progression data on individuals with CMT1E. Patients with CMT1E were evaluated during initial and follow-up visits at sites within the Inherited Neuropathy Consortium. Clinical characteristics were obtained from history, neurological exams, and nerve conduction studies. Clinical outcome measures were used to quantify baseline and longitudinal changes, including the Rasch-modified CMT Examination Score version 2 (CMTESv2-R) and the CMT Pediatric Scale (CMTPedS). The trafficking of PMP22 variants in transfected cells was correlated to disease severity. Twenty-four presumed disease-causing PMP22 variants were identified in 50 individuals from 35 families, including 19 missense variants, three in-frame deletions, and two truncations. Twenty-nine patients presented with delayed walking during childhood. At their baseline evaluation, the mean CMTESv2-R in 46 patients was 16 ± 7.72 (out of 32), and the mean CMTPedS from 17 patients was 28 ± 6.35 (out of 44). Six individuals presented with hearing loss, eleven with scoliosis, three with hip dysplasia, and one with both scoliosis and hip dysplasia. Twenty variants were localized within transmembrane domains; 31 of 35 individuals with these variants had moderate to severe phenotypes. Three variants were found in the extracellular domain and were associated with milder phenotypes. Reduced expression of PMP22 at the cell surface, and the location of missense variants within the transmembrane domain correlated with disease severity. Pathogenic PMP22 variants located within the transmembrane regions usually cause a moderate to severe clinical phenotype, beginning in early childhood, and have impaired trafficking to the plasma membrane.

• 3

  Zebrafish as an Integrative Model for Central Nervous System Research: Current Advances and Translational Perspectives

  Life (Basel, Switzerland) · 2025

  📚 3 citations🔓 Open Access📄 PDF gratuit ↗

  Lire l'abstract Crossref ↓

  Central nervous system disorders represent a heterogeneous set of conditions triggered by genetic alterations, environmental exposures, infections, injuries, and even iatrogenic causes. These conditions impact a significant portion of the global population, posing serious concerns for public health. Even though progress has been made in understanding and treating some of these disorders, many others remain poorly understood, with research still in their early stages. For that, adapted experimental models are essential for deciphering the physiopathology of disorders and developing future therapeutic strategies. Within this context, zebrafish (Danio rerio) has emerged as a valuable model for central nervous system disorders, thanks to its high genetic and neuroanatomical homology with humans, the conservation in different aspects of cellular architecture and blood–brain barrier, and the remarkable regenerative ability of the CNS. This review presents the state of the art on zebrafish models for central nervous system disorders, presenting their potential in comprehending the pathophysiological processes and screening therapeutics.

Publications scientifiques (50) — classées par pathologie

Source PubMed · Recherche par auteur (homonymes possibles, vérifier l'affiliation).

Partager cette fiche