Anatomical differences in three wing muscles of the Grey heron (Ardea cinerea), the Common buzzard (Buteo buteo) and the Common kestrel (Falco tinnunculus): a possible functional interpretation

In this paper, a description of the coracobrachialis caudalis, the scapulotriceps and the extensor carpi radialis muscles is presented in three different species (Common kestrel, Common buzzard and Grey heron) that exhibit notably differing flight styles. The primary goal of this research is to describe the gross anatomy of species not previously examined. Secondly, we attempt to advance a functional interpretation of the structures studied, to understand if such noticeable differences in flight style could have induced a differentiation in the above mentioned wing muscles. Regarding the coracobrachialis caudalis muscle, the Grey heron exhibited an unusual conformation with two \u201creversed\u201d heads and a great amount of fibrous bundles. Moreover, the \u201canchors\u201d of the scapulotriceps muscle were well developed in the Grey heron and vestigial in the Common kestrel, while an intermediate situation was observed in the Common buzzard. In addition, the extensor carpi radialis muscle showed interesting findings concerning the number of heads and their disposition. Our data may corroborate some previously advanced functional interpretation. In particular, the structure of the coracobrachialis muscle is in line with the hypothesis of its role as muscular strut. Moreover, the humeral and scapular anchors could play a role in increasing the scapulotriceps tension during some phases of the beat cycle or it may be involved in maintaining wing posture. Regarding the different number of heads and the disposition of the extensor carpi radialis muscle, we believe that it could play a role in maintaining the wing position. Although a correct functional interpretation can be obtained only through multidisciplinary studies, we believe that an in-depth gross anatomy study should always be conducted beforehand, to serve as basis for further and more specific research

Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients

Background Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered as prophylaxis for paroxysmal attacks, however, no therapy is completely effective. Methods Our aim is to review the pharmacological data related to the prophylactic and acute treatment of a cohort of 30 patients (16 M, 14 F, age range 5\u201342 years) and to correlate them with the clinical and genetic data collected through the Italian Biobank and Clinical Registry for AHC. Results Flunarizine was the most commonly used long-term treatment in the cohort; it reduced duration and frequency of attacks in 50% of patients and decreased intensity in 32.1%. In younger patients, flunarizine seemed significantly more effective in reducing intensity. We found no correlation between the effectiveness of flunarizine and genotype, or between developmental outcome and duration of treatment. In particular, 3 of our patients affected by E815K mutation presented rapid neurological deterioration despite ongoing treatment. Among the other administered prophylactic therapies, few proved to be effective (benzodiazepines, niaprazine, acetazolamide, melatonin, olanzapine, ketogenic diet). No clear rationale exists regarding their use, but these therapies may work by reducing the triggering factors. Conclusions The presented data are retrospective, but they are aimed at filling a gap given the rarity of the disease and the lack of randomized and controlled studies. Besides their usefulness in clarifying the pathophysiology of the disease, prospective studies involving larger cohorts of ATP1A3 mutated AHC patients are needed to provide a rationale for testing other molecules

AGRICULTURA FAMILIAR: DESAFIOS PARA A SUSTENTABILIDADE NOS MUNICÍPIOS DA COSTA OESTE PARANAENSE.

Foram identificados em relação às unidades de agricultura familiar de municípios da Região Costa Oeste do Paraná, com base em diagnósticos levantados pela ADEOP – Agência de Desenvolvimento do Extremo Oeste do Paraná, entre os anos de 2010 e 2012, as suas principais atividades produtivas, seus prováveis riscos ambientais e situação de dejetos, as condições de seus equipamentos e instalações e suas metas futuras; em relação aos municípios foram levantadas informações sobre as visões municipais relacionadas à agricultura familiar e seus canais de comercialização. A pesquisa caracteriza-se como exploratória e descritiva quanto à tipologia, dedutiva em relação ao método e com abordagem quali-quantitaiva. Conclui-se que, na região estudada, existem vários desafios para o desenvolvimento da agricultura familiar: na dimensão ecológica, por riscos ambientais apurados, nas dimensões econômica e social, pela prevalência de sistemas produtivos convencionais e falta de canais de comercialização, na dimensão cultural pela perda dos saberes locais e cultura regional

AGRICULTURA FAMILIAR: DESAFIOS PARA A SUSTENTABILIDADE NOS MUNICÍPIOS DA COSTA OESTE PARANAENSE.

Foram identificados em relação às unidades de agricultura familiar de municípios da Região Costa Oeste do Paraná, com base em diagnósticos levantados pela ADEOP – Agência de Desenvolvimento do Extremo Oeste do Paraná, entre os anos de 2010 e 2012, as suas principais atividades produtivas, seus prováveis riscos ambientais e situação de dejetos, as condições de seus equipamentos e instalações e suas metas futuras; em relação aos municípios foram levantadas informações sobre as visões municipais relacionadas à agricultura familiar e seus canais de comercialização. A pesquisa caracteriza-se como exploratória e descritiva quanto à tipologia, dedutiva em relação ao método e com abordagem quali-quantitaiva. Conclui-se que, na região estudada, existem vários desafios para o desenvolvimento da agricultura familiar: na dimensão ecológica, por riscos ambientais apurados, nas dimensões econômica e social, pela prevalência de sistemas produtivos convencionais e falta de canais de comercialização, na dimensão cultural pela perda dos saberes locais e cultura regional

Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review

AbstractAlternating Hemiplegia of Childhood (AHC) is a rare neurological disease characterized by early-onset recurrent paroxysmal events and persistent neurological deficits. TBC1D24 gene variants have been associated with a phenotypic spectrum having epilepsy as the main clinical manifestation. Herein, we report the case of a child affected by developmental delay, polymorphic seizures, and nonepileptic episodes characterized by hemiplegia or bilateral plegia, pallor, hypotonia, and dystonic postures without loss of consciousness that resolved with sleep. Noteworthy, the patient fulfills all the diagnostic criteria for AHC. An epilepsy gene panel revealed a novel TBC1D24 mutation. This variant may be considered a PM5, according to the American College of Medical Genetics and Genomics guidelines. TBC1D24 gene variants are associated with various clinical features, and increasing data confirms the association with permanent and paroxysmal movement disorders. Our report suggests that the TBC1D24 molecular analysis could be considered in the diagnostic workup of AHC patients

Ptk7-Deficient Mice Have Decreased Hematopoietic Stem Cell Pools as a Result of Deregulated Proliferation and Migration

International audienceHematopoietic stem cells (HSCs) located in adult bone marrow or fetal liver in mammals produce all cells from the blood system. Atthe top of the hierarchy are long-term HSCs endowed with lifelong self-renewal and differentiation properties. These features arecontrolled through key microenvironmental cues and regulatory pathways, such as Wnt signaling.We showed previously that PTK7,a tyrosine kinase receptor involved in planar cell polarity, plays a role in epithelial Wnt signaling; however, its function in hematopoiesishas remained unexplored. In this article, we show that PTK7 is expressed by hematopoietic stem and progenitor cells, withthe highest level of protein expression found on HSCs. Taking advantage of a Ptk7-deficient mouse strain, we demonstrate that loss ofPtk7 leads to a diminished pool of HSCs but does not affect in vitro or in vivo hematopoietic cell differentiation. This is correlatedwith increased quiescence and reduced homing abilities of Ptk7-deficient hematopoietic stem and progenitor cells, unraveling noveland unexpected functions for planar cell polarity pathways in HSC fate

Efficacy and Safety of High-Dose Immunoglobulin-Based Regimen in Statin-Associated Autoimmune Myopathy: A Multi-Center and Multi-Disciplinary Retrospective Study

Statin-associated autoimmune myopathy is a rare muscle disorder, characterized by autoantibodies against HMGCR. The anti-HMGCR myopathy persists after statin, and often requires immunosuppressive therapy. However, there is not a standardized therapeutic approach. The purpose of this study is to report the effectiveness of the immunosuppressive treatment employed in a multi-center and multi-disciplinary cohort of patients affected by anti-HMGCR myopathy, in which an immunoglobulin (IVIG)-based treatment strategy was applied. We collected 16 consecutive patients with a diagnosis of anti-HMGCR myopathy, between 2012 and 2019, and recorded data on clinical and laboratory presentation (i.e., muscle strength, serum CK levels, and anti-HMGCR antibody titer) and treatment strategies. Our results highlight the safety and efficacy of an induction therapy combining IVIG with GCs and/or methotrexate to achieve persistent remission of the disease and steroid-free maintenance. Under IVIG-based regimens, clinical improvement and CK normalization occurred in more than two thirds of patients by six months. Relapse rate was low (3/16) and 2/3 relapses occurred after treatment suspension. Nearly 90% of the patients who successfully discontinued GCs were treated with a triple immunosuppressive regimen. In conclusion, an IVIG-based regimen, which particularly includes high-dose immunoglobulin, GCs and methotrexate, can provide a fast remission achievement with GC saving

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease

Here, we describe the process of development of the methodology for an international multicenter natural history study of alternating hemiplegia of childhood as a prototype disease for rare neurodevelopmental disorders. We describe a systematic multistep approach in which we first identified the relevant questions about alternating hemiplegia of childhood natural history and expected challenges. Then, based on our experience with alternating hemiplegia of childhood and on pragmatic literature searches, we identified solutions to determine appropriate methods to address these questions. Specifically, these solutions included development and standardization of alternating hemiplegia of childhood-specific spell video-library, spell calendars, adoption of tailored methodologies for prospective measurement of nonparoxysmal and paroxysmal manifestations, unified data collection protocols, centralized data platform, adoption of specialized analysis methods including, among others, Cohen kappa, interclass correlation coefficient, linear mixed effects models, principal component, propensity score, and ambidirectional analyses. Similar approaches can, potentially, benefit in the study of other rare pediatric neurodevelopmental disorders

Towards a Pathogenic Escherichia coli Detection Platform Using Multiplex SYBR®Green Real-Time PCR Methods and High Resolution Melting Analysis

Escherichia coli is a group of bacteria which has raised a lot of safety concerns in recent years. Five major intestinal pathogenic groups have been recognized amongst which the verocytotoxin or shiga-toxin (stx1 and/or stx2) producing E. coli (VTEC or STEC respectively) have received a lot of attention recently. Indeed, due to the high number of outbreaks related to VTEC strains, the European Food Safety Authority (EFSA) has requested the monitoring of the “top-five” serogroups (O26, O103, O111, O145 and O157) most often encountered in food borne diseases and addressed the need for validated VTEC detection methods. Here we report the development of a set of intercalating dye Real-time PCR methods capable of rapidly detecting the presence of the toxin genes together with intimin (eae) in the case of VTEC, or aggregative protein (aggR), in the case of the O104:H4 strain responsible for the outbreak in Germany in 2011. All reactions were optimized to perform at the same annealing temperature permitting the multiplex application in order to minimize the need of material and to allow for high-throughput analysis. In addition, High Resolution Melting (HRM) analysis allowing the discrimination among strains possessing similar virulence traits was established. The development, application to food samples and the flexibility in use of the methods are thoroughly discussed. Together, these Real-time PCR methods facilitate the detection of VTEC in a new highly efficient way and could represent the basis for developing a simple pathogenic E. coli platform

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer

We conducted a genome-wide association study of oral cavity and pharyngeal cancer in 6,034 cases and 6,585 controls from Europe, North America and South America. We detected eight significantly associated loci (P < 5 x 10(-8)), seven of which are new for these cancer sites. Oral and pharyngeal cancers combined were associated with loci at 6p21.32 (rs3828805, HLA-DQB1), 10q26.13 (rs201982221, LHPP) and 11p15.4 (rs1453414, OR52N2-TRIM5). Oral cancer was associated with two new regions, 2p23.3 (rs6547741, GPN1) and 9q34.12 (rs928674, LAMC3), and with known cancer-related loci-9p21.3 (rs8181047, CDKN2B-AS1) and 5p15.33 (rs10462706, CLPTM1L). Oropharyngeal cancer associations were limited to the human leukocyte antigen (HLA) region, and classical HLA allele imputation showed a protective association with the class II haplotype HLA-DRB1*1301-HLA-DQA1*0103-HLA-DQB1*0603 (odds ratio (OR) = 0.59, P = 2.7 x 10(-9)). Stratified analyses on a subgroup of oropharyngeal cases with information available on human papillomavirus (HPV) status indicated that this association was considerably stronger in HPV-positive (OR = 0.23, P = 1.6 x 10(-6)) than in HPV-negative (OR = 0.75, P = 0.16) cancers