The first reported familial case of statin-induced immune-mediated necrotizing myopathy associated with anti-hydroxy-3-methylglutaryl-CoA reductase autoantibodies and HLA DRB1*11:01.

Immune-mediated necrotizing myopathy (IMNM) is a rare type of auto-immune myositis, characterized by symmetric muscle pain, proximal weakness, elevated serum CK levels and pathologic findings of necrotized muscle fibers. IMNM may be seronegative, associated with anti-signal recognition particle (SRP) antibodies or anti-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) antibodies, the last widely related with statin use. This last entity affects only 2 to 3 of 100,000 patients under statins.

A retrospective survey of patients with hereditary transthyretin-mediated (hATTR) amyloidosis treated with patisiran in real-world clinical practice in Belgium.

Introduction: Hereditary transthyretin-mediated (hATTR) amyloidosis, a genetic disease caused by mutations in the transthyretin gene, leads to progressive sensory and autonomic neuropathy and/or cardiomyopathy and is associated with renal and ophthalmologic manifestations and a poor prognosis.

Methods: This is a retrospective study based on data collected from the medical records of patients with hATTR amyloidosis treated with patisiran between 01 July 2018 and 01 February 2021. Six Belgian neuromuscular reference centers participated, covering all patisiran-treated hATTR amyloidosis patients at the study time.

Brain adaptation following various unilateral vocal fold paralysis treatments: A magnetic resonance imaging based longitudinal case series.

Aim: Examination of central compensatory mechanisms following peripheral vocal nerve injury and recovery is essential to build knowledge about plasticity of the neural network underlying phonation. The objective of this prospective multiple-cases longitudinal study is to describe brain activity in response to unilateral vocal fold paralysis (UVFP) management and to follow central nervous system adaptation over time in three patients with different nervous and vocal recovery profiles.

Materials And Methods: Participants were enrolled within 3 months of the onset of UVFP.

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.

Defects of O-linked glycosylation of alpha-dystroglycan cause a wide spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy associated with abnormal brain and eye development to mild limb girdle muscular dystrophy. We report a female patient who developed isolated pelvic girdle muscle weakness and wasting, which became symptomatic at age 42. Exome sequencing uncovered a homozygous c.

Refined anaesthesia for implantation of engineered experimental aortic valves in the pulmonary artery using a right heart bypass in sheep.

The feasibility of an anaesthetic protocol developed for surgery during right heart bypass in sheep is reported. Seven female Suffolk sheep, weighing 25-35 kg, were selected for the study. Premedication consisted of midazolam and methadone (both 0.

[Primary granulocytic sarcoma of the pancreas: efficacy of early treatment with intensive chemotherapy].

In the absence of systemic chemotherapy after the diagnosis of primary granulocytic sarcoma (PGS), all patients will subsequently develop acute myelogenous leukemia (AML). The authors describe a case of PGS of the head of the pancreas found at laparotomy in a 32-year-old man. The patient received early after surgery, two courses of high-dose chemotherapy and, with a follow-up of 2 years, never developed AML.

Erythromycin enhances fasting and postprandial proximal gastric tone in humans.

Background & Aims: Low doses of erythromycin induce antral contractions and accelerate gastric emptying. However, the effect of erythromycin on the proximal stomach remains unknown. The aim of this study was to assess the effect and mechanism(s) of action of erythromycin on proximal gastric tone in humans.

[Use of an electronic barostat for measurement of motor response of the proximal stomach to feeding and different nervous stimuli in man].

Electronic barostat allows to measure volume variations of an intragastric air-filled bag maintained at a low constant pressure level, reflecting gastric tone variations. The aims of the present study were to record physiologic variations of gastric tone in humans a) in the fasting state, with and without different stimuli, and b) in the fed state. The bag was placed into the proximal stomach of healthy subjects and connected to the barostat.