scholarly journals The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome

2021 ◽  
Vol 12 ◽  
Author(s):  
Marco Veneruso ◽  
Chiara Fiorillo ◽  
Paolo Broda ◽  
Serena Baratto ◽  
Monica Traverso ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Genetic Test ◽  
Diagnostic Algorithm ◽  
Rapid Expansion ◽  
Diagnostic Process ◽  
Histopathological Study ◽  
Clinical Classification ◽  
Floppy Infant ◽  
Muscle Biopsies

The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial. This study aims to assess the role and efficacy of muscle histopathology in the diagnostic algorithm of hypotonia in early infancy through a retrospective analysis of 197 infants who underwent muscle biopsy in their first 18 months of life. Data analysis revealed that 92/197 (46.7%) of muscle biopsies were non-specific (80) or normal (12), not allowing a specific diagnosis. In 41/197 (20.8%) cases, biopsy suggested a metabolic or mitochondrial myopathy, while in 23/197 cases (11.7%), we found evidence of muscular dystrophy. In 19/197 cases (9.7%), histopathology characteristics of a congenital myopathy were reported. In 22/197 cases (11.7%), the histopathological study indicated presence of a neurogenic damage. Overall, 46 diagnoses were then achieved by oriented genetic tests. Muscle biopsy results were consistent with genetic results in 90% of cases. Diagnostic algorithms for the diagnosis of a floppy infant are largely missing. Muscle biopsy alone can lead to a diagnosis, help the clinician in the choice of a genetic test, or even modify a diagnosis made previously.

scholarly journals THE SPECTRUM OF CONGENITAL MYOPATHIES IN ROMANIA – A PATHOLOGICAL RETROSPECTIVE STUDY

2015 ◽  
Vol 14 (4) ◽  
pp. 225-234
Author(s):  
Alexandra Eugenia Bastian ◽  
◽  
Vlad Mageriu ◽  
Emilia Manole ◽  
◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Fiber Type ◽  
Molecular Genetic ◽  
Laboratory Data ◽  
Diagnostic Algorithm ◽  
University Hospital ◽  
Morphological Data ◽  
Motor Deficit ◽  
Congenital Myopathies ◽  
Muscle Biopsies

Objectives. Congenital myopathies (CM) are a highly heterogeneous group of disorders with genetic cause, characterized by motor deficit and weakness usually manifesting in the neonatal period, with slowly progressive or non-progressive course and affecting both sexes. MC classification has undergone many changes over time, and in recent years molecular genetic studies have enabled identification of novel genes and mutations, thus increasing the diagnostic complexity. We wanted to study the incidence and morphological features of the CM cases diagnosed by muscle biopsy in the Pathology Department of Colentina University Hospital over a period of 10 years (09.2005- 09.2015). Materials and methods. We retrospectively reviewed all the muscle biopsies diagnosed with different types of CM. Muscle biopsies were performed and specifically processed using routine and special stains on cryosections, semithin and ultrathin sections for ultrastructural examination. In all the cases we reassessed the clinical and laboratory data. Results. From a number of 1,530 peripheral nerve and muscle biopsies performed and analyzed in the 10 years period we diagnosed CM in 15 cases, representing 1.03% of the total. Of these, five were “central core myopathies”, five centronuclear/myotubular myopathies, one case of nemaline myopathy, one case of “reducing body myopathy” and three cases with congenital fiber type disproportion. Reassessment of morphological data in the clinical context allowed us to identify numerous overlaps between subtypes both in the clinical and pathological picture. Conclusions. The reduced number of MC identified in our country suggests that these diseases are probably underdiagnosed or diagnosed late, requiring a better understanding of the various clinical and pathological particularities. In the accurate diagnostic algorithm, muscle biopsy remains essential to establish the type of CM and thus to direct genetic tests.

AB1118 OPEN MUSCLE BIOPSY AS A SAFE AND USEFUL MEANS OF DIAGNOSING VASCULITIS: A SINGLE-CENTER EXPERIENCE OF 210 BIOPSY CASES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1848.1-1848
Author(s):  
T. Mori ◽  
N. Yokogawa ◽  
K. Shimada
Keyword(s):  
Adverse Events ◽  
Muscle Biopsy ◽  
Safety Profile ◽  
Granulomatosis With Polyangiitis ◽  
Wound Dehiscence ◽  
Antiplatelet Drugs ◽  
Surgical Removal ◽  
Diagnostic Utility ◽  
Open Muscle ◽  
Muscle Biopsies

Background:We previously reported the utility of open muscle biopsies in diagnosing vasculitis [1]. The number of open muscle biopsies performed at our department has increased to over 200. The purpose of the present study was to evaluate the diagnostic utility of vasculitis and the safety of the open muscle biopsies.Objectives:To clarify the diagnostic utility of vasculitis and the safety profile of the open muscle biopsy.Methods:We retrospectively examined all cases of open muscle biopsy performed between May 2012 and June 2018 in our department. The biopsy results, the presence or absence of adverse events, and blood test data at the time of the biopsy were extracted from the patients’ electronic medical records.Results:Between May 2012 and June 2018, 210 open muscle biopsies were performed, 120 of which were done for vasculitis diagnosis. Diagnostic histopathological findings were obtained in 42 of the 120 cases (35%). The definitive diagnosis in these cases was microscopic polyangiitis (30 cases), eosinophilic granulomatosis with polyangiitis (seven cases), granulomatosis with polyangiitis (one case), polyarteritis nodosa (three cases), and other vasculitis (one case). In 57 cases with myeloperoxidase-anti-neutrophil cytoplasmic antibody (MPO-ANCA) ≥ 10 U/ml, 31 cases (54.3%) showed histopathology of vasculitis. In six cases with protainase-3-ANCA (PR3-ANCA) ≥ 10 U/ml, histopathology of vasculitis was found in one case (16.7%).In all 210 open muscle biopsy cases, complications included minor wound dehiscence (11 cases) and small subcutaneous hematoma (six cases), which were able to be managed by local treatment. Albumin was significantly lower in the patients with wound dehiscence (mean 3.2 vs 2.7, p = 0.049)Serious complications included anaphylaxis due to local anesthesia (one case), compartment syndrome due to hematoma (one case), hematoma requiring surgical removal (one case), and arterial hemorrhage requiring surgical intervention (one case). The patients in the latter three hemorrhagic cases were receiving antiplatelet drugs.Conclusion:An open muscle biopsy is useful for diagnosing vasculitis, especially for MPO-ANCA-positive anca-associated vasculitis. Its safety profile is acceptable. Serious adverse events are rare, but the procedure should be performed carefully when patients are receiving antiplatelet drugs.References:[1]Nunokawa T. et al. The use of muscle biopsy in the diagnosis of systemic vasculitis affecting small to medium-sized vessels: A prospective evaluation in Japan. Scand. J. Rheumatol. 2016;45:210–214Disclosure of Interests:None declared

scholarly journals A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: the role of muscle biopsy in diagnosis and defining pathogenicity

2021 ◽  
Author(s):  
Karen Baty ◽  
Maria E. Farrugia ◽  
Sila Hopton ◽  
Gavin Falkous ◽  
Andrew M. Schaefer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Muscle Biopsy

scholarly journals French recommendations for the management of Behçet’s disease

2021 ◽  
Vol 16 (S1) ◽  
Author(s):  
Isabelle Kone-Paut ◽  
◽  
Stéphane Barete ◽  
Bahram Bodaghi ◽  
Kumaran Deiva ◽  
...  
Keyword(s):  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Initial Assessment ◽  
Diagnostic Process ◽  
Behcet's Disease ◽  
Therapeutic Modalities ◽  
Clinical Presentations ◽  
Key Points

AbstractBehçet’s disease (BD) is a systemic variable vessel vasculitis that involves the skin, mucosa, joints, eyes, arteries, veins, nervous system and gastrointestinal system, presenting with remissions and exacerbations. It is a multifactorial disease, and several triggering factors including oral cavity infections and viruses may induce inflammatory attacks in genetically susceptible individuals. BD vasculitis involves different vessel types and sizes of the vascular tree with mixed-cellular perivascular infiltrates and is often complicated by recurrent thrombosis, particularly in the venous compartment. Several new therapeutic modalities with different mechanisms of action have been studied in patients with BD. A substantial amount of new data have been published on the management of BD, especially with biologics, over the last years. These important therapeutic advances in BD have led us to propose French recommendations for the management of Behçet’s disease [Protocole National de Diagnostic et de Soins de la maladie de Behçet (PNDS)]. These recommendations are divided into two parts: (1) the diagnostic process and initial assessment; (2) the therapeutic management. Thirty key points summarize the essence of the recommendations. We highlighted the main differential diagnosis of BD according to the type of clinical involvement; the role of genetics is also discussed, and we indicate the clinical presentations that must lead to the search for a genetic cause.

scholarly journals Insects in the City: Does Remnant Native Habitat Influence Insect Order Distributions?

Diversity ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 148
Author(s):  
Mani Shrestha ◽  
Jair E. Garcia ◽  
Freya Thomas ◽  
Scarlett R. Howard ◽  
Justin H. J. Chua ◽  
...  
Keyword(s):  
Urban Areas ◽  
Rapid Expansion ◽  
Ecological Value ◽  
Native Habitat ◽  
Insect Order ◽  
Insect Pollinator ◽  
Pollinating Insects ◽  
Study Sites ◽  
Taxonomic Groups

There is increasing interest in developing urban design principles that incorporate good ecological management. Research on understanding the distribution and role of beneficial pollinating insects, in particular, is changing our view of the ecological value of cities. With the rapid expansion of the built environment comes a need to understand how insects may be affected in extensive urban areas. We therefore investigated insect pollinator capture rates in a rapidly growing and densely urbanized city (Melbourne, Australia). We identified a remnant native habitat contained within the expansive urban boundary, and established study sites at two nearby populated urban areas. We employed standard pan trap sampling techniques to passively sample insect orders in the different environments. Our results show that, even though the types of taxonomic groups of insects captured are comparable between locations, important pollinators like bees and hoverflies were more frequently captured in the remnant native habitat. By contrast, beetles (Coleoptera) and butterflies/moths (Lepidoptera) were more frequently observed in the urban residential regions. Our results suggest that the maintenance of native habitat zones within cities is likely to be valuable for the conservation of bees and the ecosystem services they provide.

scholarly journals Remote monitoring in heart failure: current and emerging technologies in the context of the pandemic

Heart ◽  
2021 ◽  
Vol 107 (5) ◽  
pp. 366-372
Author(s):  
Donya Mohebali ◽  
Michelle M Kittleson
Keyword(s):  
Heart Failure ◽  
At Risk ◽  
Remote Monitoring ◽  
Reliable Method ◽  
Healthcare Delivery ◽  
Rapid Expansion ◽  
Monitoring Technology ◽  
Remote Healthcare ◽  
Monitoring Technologies

The incidence of heart failure (HF) remains high and patients with HF are at risk for frequent hospitalisations. Remote monitoring technologies may provide early indications of HF decompensation and potentially allow for optimisation of therapy to prevent HF hospitalisations. The need for reliable remote monitoring technology has never been greater as the COVID-19 pandemic has led to the rapid expansion of a new mode of healthcare delivery: the virtual visit. With the convergence of remote monitoring technologies and reliable method of remote healthcare delivery, an understanding of the role of both in the management of patients with HF is critical. In this review, we outline the evidence on current remote monitoring technologies in patients with HF and highlight how these advances may benefit patients in the context of the current pandemic.

scholarly journals Reevaluating Muscle Biopsies in the Diagnosis of Pompe Disease: A Corroborative Report

2016 ◽  
Vol 43 (4) ◽  
pp. 561-566 ◽  
Author(s):  
Angela Genge ◽  
Natasha Campbell
Keyword(s):  
Genetic Testing ◽  
Muscle Biopsy ◽  
Pompe Disease ◽  
Acid Maltase Deficiency ◽  
Biopsy Result ◽  
Blood Samples ◽  
Acid Maltase ◽  
Muscle Biopsies ◽  
Blood Spot ◽  
Rule Out

AbstractBackground: Previous reports suggest that although a diagnostic muscle biopsy can confirm the presence of Pompe disease, the absence of a definitive biopsy result does not rule out the diagnosis. Methods: In this study, we reviewed patients with a limb-girdle syndrome who demonstrated nonspecific abnormalities of muscle, without evidence of the classical changes of acid maltase deficiency. These patients were rescreened for Pompe disease using dried blood spot (DBS) testing. Results: Twenty-seven patients provided blood samples for the DBS test. Four patients underwent subsequent genetic testing. Genetic analysis demonstrated that one patient tested positive for Pompe disease and one patient had one copy of a pathogenic variant. Conclusions: In conclusion, the ability of a diagnostic muscle biopsy to definitively rule out the presence of Pompe disease is limited. There is a role for a screening DBS in all patients presenting with a limb-girdle syndrome without a clear diagnosis.

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