Clinical outcomes for 2788 patients with transthyretin amyloidosis: Tafamidis meglumine early access program in France.

Background: Early access experience in France with tafamidis meglumine, a selective transthyretin stabilizer for transthyretin-related amyloidosis cardiomyopathy (ATTR-CM), following transthyretin-related amyloidosis (ATTR) polyneuropathy approval and positive ATTR-ACT study results.

Aim: To describe the characteristics and clinical outcomes for patients in the French ATTR-CM tafamidis meglumine early access programme (28 Nov 2018 to 01 Jun 2021).

Methods: Patients with confirmed ATTR-CM received tafamidis meglumine 20mg/day or 80mg/day.

Implementation of a community-based LC-UV drug checking service: promising preliminary findings on feasibility and validity.

Background: The increasing diversity of psychoactive substances on the unregulated drug market poses significant health, psychological, and social risks to people who use drugs (PWUD). To address these risks, various harm reduction (HR) policies have been implemented, including drug checking services (DCS). Many analytical methods are used for DCS.

Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.

Background: Fasudil is a small molecule inhibitor of Rho-associated kinase (ROCK) and is approved for the treatment of subarachnoid haemorrhage. In preclinical studies, fasudil has been shown to attenuate neurodegeneration, modulate neuroinflammation, and foster axonal regeneration. We aimed to investigate the safety, tolerability, and efficacy of fasudil in patients with amyotrophic lateral sclerosis.

In Vivo Feasibility of Arterial Embolization with a New Permanent Agar-agar-Based Agent.

Purpose: Evaluate the safety and efficacy of an eco-friendly permanent agar-agar-based embolization agent (ABEA) (EmboBio®) for intra-arterial use.

Materials And Methods: Six pigs embolized with one ABEA torpedo (6 lower polar renal and 6 lumbar arteries) and one coil (6 lower polar renal and 6 lumbar arteries). Technical success was defined as a complete occlusion with no residual flow in DSA.

Challenges in molecular diagnosis of multiple endocrine neoplasia.

Multiple endocrine neoplasia (MEN) is a group of rare genetic diseases characterized by the occurrence of multiple tumors of the endocrine system in the same patient. The first MEN described was MEN1, followed by MEN2A, and MEN2B. The identification of the genes responsible for these syndromes led to the introduction of family genetic screening programs.

Brain sodium MRI-derived priors support the estimation of epileptogenic zones using personalized model-based methods in epilepsy.

Patients presenting with drug-resistant epilepsy are eligible for surgery aiming to remove the regions involved in the production of seizure activities, the so-called epileptogenic zone network (EZN). Thus the accurate estimation of the EZN is crucial. Data-driven, personalized virtual brain models derived from patient-specific anatomical and functional data are used in Virtual Epileptic Patient (VEP) to estimate the EZN via optimization methods from Bayesian inference.

Case Series: Variants in Four Patients with Metastatic Pheochromocytoma.

Few reports have highlighted the rare presence of somatic variants in clinically aggressive, metastatic pheochromocytoma/paraganglioma (PCC/PGL); however, none have addressed detailed clinical presentation (including biochemistry and imaging) and management of these patients. Here, we address these clinical features and management based on four PCC patients with somatic variants from our National Institutes of Health PCC/PGL cohort. A total of 192 patients underwent exome sequencing (germline, somatic, or both), and four males were found to have somatic variants (with additional somatic and oncogenic variants in patients 2 and 4, respectively).

Stereotactic Radiosurgery for Intracranial Cavernous Malformations: International Stereotactic Radiosurgery Society, Systematic Review, Meta-Analysis, and Practice Guidelines.

Objective: The International Stereotactic Radiosurgery Society aims to establish evidence-based guidelines for single-fraction stereotactic radiosurgery (SRS) in treating intracranial cavernous malformations.

Methods: We conducted a systematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analyses and Meta-analysis of Observational Studies in Epidemiology guidelines, searching electronic databases up to January 2024 to assess SRS's impact on post-treatment hemorrhage rates. Pooled risk ratios (RRs) and confidence intervals were used to quantify this effect, along with assessments of lesion volume changes, seizure outcomes, and SRS-related adverse effects.

18F-FDG brain PET: a metabolic predictive factor for gait improvement after cerebrospinal fluid shunting in normal pressure hydrocephalus?

Background: The pathophysiology of normal pressure hydrocephalus (NPH) has not been fully elucidated. Treating NPH with cerebrospinal fluid shunts to improve gait disturbances may have some risks and inconsistent benefits. No clear predictive factor has been identified thus far.

Electrophysiological features of the peripheral neuropathy in patients with pathologic biallelic RFC1 repeat expansions.

Introduction/aims: Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is caused by RFC1 expansions. Sensory neuronopathy, polyneuropathy, and involvement of motor, autonomic, and cranial nerves have all been described with RFC1 expansions. We aimed to describe the electrodiagnostic features of patients with RFC1 expansions through multimodal electrophysiological investigations.

Overview of recent guidelines and consensus statements on initial screening and management of phaeochromocytoma and paraganglioma in SDHx pathogenic variant carriers and patients.

Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with a strong genetic predisposition, involving over 20 genes and with germline pathogenic variants identified in 40 % of cases. The succinate dehydrogenase (SDHx) genes are the most commonly implicated in hereditary PPGLs, accounting for 20 % of cases, and present unique diagnostic and treatment challenges due to their potential for multiple, recurrent, and aggressive manifestations, often necessitating lifelong follow-up. Over the past two decades, advances in biochemical and imaging assessments, management, and follow-up protocols have significantly improved care for both adult and paediatric patients.

Vascularized hemi-hamate graft: Anatomic description of a novel pedicled osteo-chondro-ligamentous flap for proximal scaphoid reconstruction.

Scaphoid proximal pole destruction remains a surgical challenge owing to its high propensity for nonunion and osteonecrosis. The hemi-hamate graft has shown promising results in addressing this issue. However, long-term results of non-vascularized composite grafts remain uncertain.

How I do it: en-bloc thoracic vertebrectomy.

Background: Some young patients with preserved functional status suffering from aggressive isolated neoplastic disease of the thoracic spine may be eligible from curative en-bloc vertebrectomy surgical treatment.

Method: Long-segment posterior pedicle screw fixation is performed. Complete excision of the posterior arch and of ribs posterior aspect is performed.

International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork.

Evaluation of left ventricular ejection fraction by a new automatic tool on a pocket ultrasound device: Concordance study with cardiac magnetic resonance imaging.

Introduction: Assessment of left ventricular ejection fraction (LVEF) is one of the primary objectives of echocardiography. The gold standard assessment technique in emergency medicine is eyeballing. A new tool is now available on pocket ultrasound devices (PUD): automatic LVEF.