Teaching video neuro images. the beevor sign in late-onset pompe disease

The Beevor sign, an upward deflection of the umbilicus on flexion of the neck, is a characteristic finding in facioscapulohumeral muscular dystrophy.1 Many other neuromuscular disorders involving axial muscles can present a Beevor sign.2 We report a 45-year-old man with late-onset Pompe disease showing a major Beevor sign (figure 1 and video on the Neurology® Web site at Neurology.org). He had progressive limb-girdle weakness that started in his 20s and severe axial weakness. Whole-body muscle MRI showed a complete fatty replacement and atrophy of the lower part of rectus abdominis and a milder involvement of the upper par

Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation

We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52. Clinical examination showed short stature, mild symmetric eyelid ptosis without ophthalmoplegia, scapular winging and Achilles tendon retraction. A muscle weakness was not noted. CK levels were up to 350 UI/L. Deltoid muscle biopsy showed nuclear centralization and clustering, deep sarcolemmal invaginations and type 1 fiber hypotrophy. Whole body MRI revealed fatty infiltration of posterior legs compartments, lumbar paraspinal and serratus muscles. Myotonic dystrophy type1 and 2, Pompe disease and MTM1 and DNM2-related CNM were ruled out. By sequencing BIN1, we identified a heterozygous pathogenic mutation [c.107C > A (p.A36E)], and we demonstrate that the mutation strongly impairs the membrane tubulation property of the protein. One affected sister carried the same mutation. Her clinical examination and muscle MRI revealed a similar phenotype. Our findings expand the clinical and genetic spectrum of the autosomal dominant CNM associated with BIN1 mutations

First data on plastic ingestion by blue sharks (Prionace glauca) from the Ligurian Sea (North-Western Mediterranean Sea)

Few studies have focused so far on plastic ingestion by sharks in the Mediterranean Sea. The aim of this paper was to determine, for the first time, the plastic litter ingested by blue sharks (Prionace glauca), categorized as \u201cCritically Endangered\u201d in the Mediterranean Sea by IUCN, caught in the Pelagos Sanctuary SPAMI (North-Western Mediterranean Sea). The analysis of the stomach contents was performed following the MSFD Descriptor 10 standard protocol implemented with FT-IR spectroscopy technique. The results showed that 25.26% of sharks ingested plastic debris of wide scale of sizes from microplastics (<5 mm) to macroplastics (>25 mm). The polyethylene sheetlike user plastics, widely used as packaging material, are the most ingested debris. This research raises a warning alarm on the impact of plastic debris on a threatened species, with a key role in the food web, and adds important information for futures mitigation actions

Sensitivity to Anilinopyrimidines and Phenylpyrroles in «Botrytis cinerea» in North-Italian Vineyards

Several commercial vineyards, located in Piedmont (Northern Italy), were monitored in order to evaluate the sensitivity of Botrytis cinerea Pers., the causal agent of grey mould, to five classes of botryticides: benzimidazoles, dicarboximides, phenylcarbamates, anilinopyrimidines and phenylpyrroles. Strains of B. cinerea resistant to anilinopyrimidines were easily detected, particularly in 1999, a year characterized by high disease pressure, even in vineyards not sprayed with that class of fungicides. Fludioxonil-resistance, on the contrary, was not detected. Resistance to benzimidazoles and dicarboximides was at previous observed levels. For the first time, resistance to phenylcarbamates was detected in the field. Strains of B. cinerea showing multiple resistance to benzimidazoles, dicarboximides and anilinopyrimidines and maintaining a good level of virulence, as shown by tests carried out on wounded apples, are present in Italian vineyards. Strategies in the use of the botryticides are discussed, in order to avoid a loss of disease control

A global synthesis reveals biodiversity-mediated benefits for crop production

Human land use threatens global biodiversity and compromises multiple ecosystem functions critical to food production. Whether crop yield–related ecosystem services can be maintained by a few dominant species or rely on high richness remains unclear. Using a global database from 89 studies (with 1475 locations), we partition the relative importance of species richness, abundance, and dominance for pollination; biological pest control; and final yields in the context of ongoing land-use change. Pollinator and enemy richness directly supported ecosystem services in addition to and independent of abundance and dominance. Up to 50% of the negative effects of landscape simplification on ecosystem services was due to richness losses of service-providing organisms, with negative consequences for crop yields. Maintaining the biodiversity of ecosystem service providers is therefore vital to sustain the flow of key agroecosystem benefits to society.EEA ConcordiaFil: Dainese, Matteo. Eurac Research. Institute for Alpine Environment; ItaliaFil: Dainese, Matteo. University of Würzburg. Biocenter. Department of Animal Ecology and Tropical Biology; AlemaniaFil: Martin, Emily A. University of Würzburg. Biocenter. Department of Animal Ecology and Tropical Biology; AlemaniaFil: Aizen, Marcelo Adrian. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte. Instituto de Investigaciones en Biodiversidad y Medioambiente; ArgentinaFil: Aizen, Marcelo Adrian. Universidad Nacional del Comahue. Centro Regional Universidad Bariloche. Instituto de Investigaciones en Biodiversidad y Medioambiente; Argentina.Fil: Albrecht, Matthias. Agroscope. Agroecology and Environment; SuizaFil: Bartomeus, Ignasi. CSIC. Estación Biológica de Doñana. Integrative Ecology; EspañaFil: Bommarco, Riccardo. Swedish University of Agricultural Sciences. Department of Ecology; SueciaFil: Carvalheiro, Luisa G. Universidade Federal de Goias. Departamento de Ecologia; BrasilFil: Carvalheiro, Luisa G. Universidade de Lisboa. Faculdade de Ciencias. Centre for Ecology, Evolution and Environmental Changes (CE3C); PortugalFil: Chaplin-Kramer, Rebecca. Stanford University. Natural Capital Project; Estados UnidosFil: Gagic, Vesna. Commonwealth Scientific and Industrial Research Organisation (CSIRO); AustraliaFil: Garibaldi, Lucas Alejandro. Universidad Nacional de Rio Negro. Instituto de Investigaciones de Recursos Naturales, Agroecología y Desarrollo Rural; ArgentinaFil: Garibaldi, Lucas Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Cavigliasso, Pablo. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Concordia; ArgentinaFil: Steffan-Dewenter, Ingolf. University of Würzburg. Biocenter. Department of Animal Ecology and Tropical Biology; Alemani

Anxiety disorders and stressful events in Takotsubo syndrome

Background: Anxiety disorders are more common in Takotsubo syndrome (TS) than in acute coronary syndrome patients. The aim of this study was to investigate whether pre-existing anxiety disorders predispose to TS triggered by exclusively emotional stressful events.Methods: Triggering events were compared in 58 TS patients with and without pre-existing anxiety disorders; clinical, electrocardiographic and echocardiographic data were also collected.Results: Thirty-one (53%) patients had a previous history of anxiety disorders. The exclusively emotional stressful event-rate was higher in TS patients with pre-existing anxiety disorder (74% vs. 30%, p = 0.001), while TS caused by an undetermined trigger were significantly higher in patients without anxiety disorders (33% vs. 10%, p = 0.027). Moreover, in TS patients without a previous history of anxiety disorders, a trend of higher prevalence of physical events was found (16% vs. 37%, p = 0.07).Conclusions: In patients with pre-existing anxiety disorders, TS was predominantly triggered by exclusively emotional stressful events, thereby suggesting a possible relationship between anxiety and emotional cardiac frailty in TS patients

Creatine kinase and progression rate in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with no recognized clinical prognostic factor. Creatinine kinase (CK) increase in these patients is already described with conflicting results on prognosis and survival. In 126 ALS patients who were fast or slow disease progressors, CK levels were assayed for 16 months every 4 months in an observational case-control cohort study with prospective data collection conducted in Italy. CK was also measured at baseline in 88 CIDP patients with secondary axonal damage and in two mouse strains (129SvHSD and C57-BL) carrying the same SOD1G93A transgene expression but showing a fast (129Sv-SOD1G93A) and slow (C57-SOD1G93A) ALS progression rate. Higher CK was found in ALS slow progressors compared to fast progressors in T1, T2, T3, and T4, with a correlation with Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-R) scores. Higher CK was found in spinal compared to bulbar-onset patients. Transgenic and non-transgenic C57BL mice showed higher CK levels compared to 129SvHSD strain. At baseline mean CK was higher in ALS compared to CIDP. CK can predict the disease progression, with slow progressors associated with higher levels and fast progressors to lower levels, in both ALS patients and mice. CK is higher in ALS patients compared to patients with CIDP with secondary axonal damage; the higher levels of CK in slow progressors patients, but also in C57BL transgenic and non-transgenic mice designs CK as a predisposing factor for disease rate progression

Multidisciplinary studies on a sick-leader syndrome-associated mass stranding of sperm whales (Physeter macrocephalus) along the Adriatic coast of Italy

Mass strandings of sperm whales (Physeter macrocephalus) are rare in the Mediterranean Sea. Nevertheless, in 2014 a pod of 7 specimens stranded alive along the Italian coast of the Central Adriatic Sea: 3 individuals died on the beach after a few hours due to internal damages induced by prolonged recumbency; the remaining 4 whales were refloated after great efforts. All the dead animals were genetically related females; one was pregnant. All the animals were infected by dolphin morbillivirus (DMV) and the pregnant whale was also affected by a severe nephropathy due to a large kidney stone. Other analyses ruled out other possible relevant factors related to weather conditions or human activities. The results of multidisciplinary post-mortem analyses revealed that the 7 sperm whales entered the Adriatic Sea encountering adverse weather conditions and then kept heading northward following the pregnant but sick leader of the pod, thereby reaching the stranding site. DMV infection most likely played a crucial role in impairing the health condition and orientation abilities of the whales. They did not steer back towards deeper waters, but eventually stranded along the Central Adriatic Sea coastline, a real trap for sperm whales

Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients

Introduction: Muscle ultrasound is a fast, non-invasive and cost-effective examination that can identify structural muscular changes by assessing muscle thickness and echointensity (EI) with a quantitative analysis (QMUS). To assess applicability and repeatability of QMUS, we evaluated patients with genetically confirmed facioscapulohumeral muscular dystrophy type 1 (FSHD1), comparing their muscle ultrasound characteristics with healthy controls and with those detected by MRI. We also evaluated relationships between QMUS and demographic and clinical characteristics. Materials and methods: Thirteen patients were included in the study. Clinical assessment included MRC sum score, FSHD score and The Comprehensive Clinical Evaluation Form (CCEF). QMUS was performed with a linear transducer scanning bilaterally pectoralis major, deltoid, rectus femoris, tibialis anterior and semimembranosus muscles in patients and healthy subjects. For each muscle, we acquired three images, which were analysed calculating muscle EI by computer-assisted grey-scale analysis. QMUS analysis was compared with semiquantitative 1.5 T muscle MRI scale. Results: All muscles in FSHD patients showed a significant increased echogenicity compared to the homologous muscles in healthy subjects. Older subjects and patients with higher FSHD score presented increased muscle EI. Tibialis anterior MRC showed a significant inverse correlation with EI. Higher median EI was found in muscles with more severe MRI fat replacement. Conclusions: QMUS allows quantitative evaluation of muscle echogenicity, displaying a tight correlation with muscular alterations, clinical and MRI data. Although a confirmation on larger sample is needed, our research suggests a possible future application of QMUS in diagnosis and management of muscular disorders

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Few genes (RYR1, NEB, ACTA1, CFL2, KBTBD13) have been associated with core-rod congenital myopathies [7]. KBTBD13 belongs to the Kelch-repeat super-family of proteins and is implicated in the ubiquitination pathway. Dominant mutations in KBTBD13 have been associated with a peculiar form of core-rod myopathy (NEM6) so far [10]. Childhood onset, slowly progressive proximal muscle weakness with characteristic slowness of movements and combination of nemaline rods, irregular shaped cores and unusual type2 fibres hypotrophy at muscle biopsy, were the main characteristics shared in all the affected members of the four KBTBD13 families reported in the literature [12]. We report on a 65 years old patient, of Sardinian origin, with atypical clinical and morphological presentation of NEM6 due to a novel mutation in KBTBD13 gene