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.

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1-Related Congenital Centronuclear Myopathy

2021 ◽  
Author(s):  
Bhanudeep Singanamalla ◽  
Shivan Kesavan ◽  
Divya Aggarwal ◽  
Debajyoti Chatterjee ◽  
Andoni Urtizberea ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Muscle Biopsy ◽  
De Novo ◽  
Fiber Type ◽  
Neuromuscular Disorders ◽  
Malignant Hyperthermia Susceptibility ◽  
Centronuclear Myopathy ◽  
Childhood Onset ◽  
Congenital Myopathies ◽  
Skeletal Muscle Weakness

AbstractCongenital myopathies are an expanding spectrum of neuromuscular disorders with early infantile or childhood onset hypotonia and slowly or nonprogressive skeletal muscle weakness. RYR1-related myopathies are the most common and frequently diagnosed class of congenital myopathies. Malignant hyperthermia susceptibility and central core disease are autosomal dominant or de novo RYR1 disorder, whereas multiminicore, congenital fiber type disproportion and centronuclear myopathy are autosomal recessive RYR1 disorders. The presence of ptosis, ophthalmoparesis, facial, and proximal muscles weakness, with the presence of dusty cores and multiple internal nuclei on muscle biopsy are clues to the diagnosis. We describe an 18-year-old male, who presented with early infantile onset ptosis, ophthalmoplegia, myopathic facies, hanging lower jaw, and proximal muscle weakness confirmed as an RYR1-related congenital centronuclear myopathy on genetic analysis and muscle biopsy.

scholarly journals Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

2012 ◽  
Vol 39 (4) ◽  
pp. 520-524 ◽  
Author(s):  
Gerald Pfeffer ◽  
Paula J. Waters ◽  
John Maguire ◽  
Hilary D. Vallance ◽  
V. A. Wong ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Diagnostic Yield ◽  
Molecular Genetic ◽  
Progressive External Ophthalmoplegia ◽  
Limb Muscle ◽  
Genetic Studies ◽  
Skeletal Muscle Biopsy ◽  
Clinicopathologic Study ◽  
Levator Palpebrae ◽  
Muscle Biopsies

Background:Progressive external ophthalmoplegia (PEO) is a mitochondrial myopathy of ocular muscles. Diagnostic investigation usually involves limb skeletal muscle biopsy and molecular genetic studies, although diagnostic yield tends to be low. The purpose of this study was to evaluate the diagnostic yield obtained by analysis of levator palpebrae (LP) muscle tissue.Methods:This is a clinicopathologic study of 8 patients with a diagnosis of PEO, who had LP muscle biopsies as part of oculoplastic procedures. Six of these patients also had limb muscle biopsies. Histopathology, electron microscopy and genetic studies were performed.Results:Diagnostic histopathologic findings were present in 4/6 quadriceps biopsies, and 7/8 LP biopsies. Genetic testing on DNA extracted from LP muscle revealed abnormalities in 4 patients.Conclusion:In patients whose LP muscle demonstrate both genetic defects and histopathological abnormalities, the diagnosis of PEO can be confirmed without limb muscle biopsy. Patients having LP resection during oculoplastics procedures for treatment of ptosis may therefore be able to avoid a separate procedure for limb muscle biopsy. Further study is required to determine the specificity of these findings.

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.

Sharing of Worldwide Spread Knowledge Using Hypermedia Facilities & Fast Communication Protocols (Mosaic and World Wide Web): The Example of ExPASy

1995 ◽  
Vol 34 (01/02) ◽  
pp. 75-78 ◽  
Author(s):  
R. D. Appel ◽  
O. Golaz ◽  
Ch. Pasquali ◽  
J.-C. Sanchez ◽  
A. Bairoch ◽  
...  
Keyword(s):  
World Wide Web ◽  
World Wide ◽  
Relevant Literature ◽  
Communication Protocols ◽  
Laboratory Data ◽  
Central Element ◽  
University Hospital ◽  
New Information ◽  
The University ◽  
Link Information

Abstract:The sharing of knowledge worldwide using hypermedia facilities and fast communication protocols (i.e., Mosaic and World Wide Web) provides a growth capacity with tremendous versatility and efficacy. The example of ExPASy, a molecular biology server developed at the University Hospital of Geneva, is striking. ExPASy provides hypermedia facilities to browse through several up-to-date biological and medical databases around the world and to link information from protein maps to genome information and diseases. Its extensive access is open through World Wide Web. Its concept could be extended to patient data including texts, laboratory data, relevant literature findings, sounds, images and movies. A new hypermedia culture is spreading very rapidly where the international fast transmission of documents is the central element. It is part of the emerging new “information society”.

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 Factors Enhancing Serum Syndecan-1 Concentrations: A Large-Scale Comprehensive Medical Examination

2019 ◽  
Vol 8 (9) ◽  
pp. 1320
Author(s):  
Kazumasa Oda ◽  
Hideshi Okada ◽  
Akio Suzuki ◽  
Hiroyuki Tomita ◽  
Ryo Kobayashi ◽  
...  
Keyword(s):  
Large Scale ◽  
Prospective Observational Study ◽  
Nitrogen Concentration ◽  
Laboratory Data ◽  
University Hospital ◽  
Endothelial Glycocalyx ◽  
Sample Collection ◽  
Blood Samples ◽  
Triglyceride Concentration ◽  
Medical Examinations

Endothelial disorders are related to various diseases. An initial endothelial injury is characterized by endothelial glycocalyx injury. We aimed to evaluate endothelial glycocalyx injury by measuring serum syndecan-1 concentrations in patients during comprehensive medical examinations. A single-center, prospective, observational study was conducted at Asahi University Hospital. The participants enrolled in this study were 1313 patients who underwent comprehensive medical examinations at Asahi University Hospital from January 2018 to June 2018. One patient undergoing hemodialysis was excluded from the study. At enrollment, blood samples were obtained, and study personnel collected demographic and clinical data. No treatments or exposures were conducted except for standard medical examinations and blood sample collection. Laboratory data were obtained by the collection of blood samples at the time of study enrolment. According to nonlinear regression, the concentrations of serum syndecan-1 were significantly related to age (p = 0.016), aspartic aminotransferase concentration (AST, p = 0.020), blood urea nitrogen concentration (BUN, p = 0.013), triglyceride concentration (p < 0.001), and hematocrit (p = 0.006). These relationships were independent associations. Endothelial glycocalyx injury, which is reflected by serum syndecan-1 concentrations, is related to age, hematocrit, AST concentration, BUN concentration, and triglyceride concentration.

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.

Spironolactone-Induced Agranulocytosis

1997 ◽  
Vol 31 (5) ◽  
pp. 582-585 ◽  
Author(s):  
Anna M Whitling ◽  
Pablo E Pérgola ◽  
John Lee Sang ◽  
Robert L Talbert
Keyword(s):  
Risk Factors ◽  
Adverse Effect ◽  
Bone Marrow ◽  
Leukocyte Count ◽  
Laboratory Data ◽  
University Hospital ◽  
Drug Induced ◽  
Bone Marrow Biopsies ◽  
Case Summary ◽  
Before And After

OBJECTIVE: TO report a case of agranulocytosis secondary to spironolactone in a patient with cryptogenic liver disease. CASE SUMMARY: A 58-year-old Hispanic woman with cryptogenic cirrhosis was admitted to University Hospital on October 31, 1995. Laboratory data revealed a leukocyte count of 1.0 × 103/mm3 and an absolute neutrophil count (ANC) of 10 cells/mm3. Prior to treatment with spironolactone, the leukocyte count was 10.2 × 103/mm3 and ANC 8400 cells/mm3. Agranulocytosis resolved 5 days following the discontinuation of spironolactone. Results from the bone marrow biopsies before and after treatment with spironolactone suggested that agranulocytosis was caused by the drug's toxic effect on the bone marrow. DISCUSSION: Drug-induced agranulocytosis is a serious adverse effect, occurring at a rate of approximately 6.2 cases per million persons each year. In addition to the case reported here, three other reports of agranulocytosis secondary to spironolactone have been published in the literature. Several factors have been identified that may increase a patient's risk for developing agranulocytosis, including increased age, hepatic or renal impairment, drag dosage and duration, and concurrent medications. CONCLUSIONS: Agranulocytosis secondary to spironolactone is a serious potential adverse effect. Patients with risk factors for developing this adverse effect should be closely monitored since early detection and discontinuation of spironolactone can improve prognosis.

scholarly journals The impact of Temporal Artery Biopsy for the diagnosis of Giant Cell Arteritis in clinical practice in a tertiary University Hospital

2019 ◽  
Author(s):  
E Kaltsonoudis ◽  
E Pelechas ◽  
A Papoudou-Bai ◽  
E.T. Markatseli ◽  
M Elisaf ◽  
...  
Keyword(s):  
Giant Cell Arteritis ◽  
Giant Cell ◽  
Laboratory Data ◽  
Unknown Origin ◽  
Temporal Artery ◽  
University Hospital ◽  
Temporal Artery Biopsy ◽  
Acute Phase Reactants ◽  
Anemia Of Chronic Disease ◽  
The Impact

ABSTRACTBackgroundTemporal artery biopsy (TAB) is useful in assisting with giant cell arteritis (GCA) diagnosis but lacks sensitivity. The aim of our study was to assess the diagnostic impact of TAB histology in patients with suspected GCA on hospital admission.MethodsA prospectively maintained database was queried for all TABs performed between 1-1-2000 until 31-12-2017 at the University Hospital of Ioannina. Thus, inclusion criteria were made on the grounds of every patient that underwent a TAB during the above-mentioned period, regardless of demographic, clinical and laboratory data.ResultsTwo hundred forty-five TABs were included (149 females and 96 males), with a mean age of 64.5 (±3.5) years. The mean symptoms duration until admission to the hospital was 8.6 (±1.3) weeks and all had elevated acute phase reactants on admission. The reasons of admission were fever of unknown origin (FUO) in 114 (46.5%) patients, symptoms of polymyalgia rheumatica (PMR) in 84 (34.3%), new headache in 33 (13.5%), anemia of chronic disease (ACD) in 8 (3.32%) and eye disturbances in 6 (2.5%) patients. Positive results were found in 49 (20%) TABs. More specifically, in 14% of patients with FUO, 21% in those with PMR, while in patients with a new headache the percentage was 27%. Finally, 5 out of 6 (83.3%) of patients with ocular symptoms and only one (12.5%) of those suffering from ACD. Visual manifestations and FUO are correlated with a positive TAB.ConclusionIt seems that TAB is useful in assisting with GCA diagnosis, but lacks sensitivity.

Screening for hypophosphatasia: does biochemistry lead the way?

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Corinna Melanie Held ◽  
Anic Guebelin ◽  
Andreas Krebs ◽  
Jörn Oliver Sass ◽  
Michael Wurm ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Enzyme Replacement Therapy ◽  
Pediatric Population ◽  
Laboratory Data ◽  
Diagnostic Algorithm ◽  
Inorganic Pyrophosphate ◽  
Enzyme Replacement ◽  
Underlying Diseases ◽  
Data Screening ◽  
Serum And Urine

Abstract Objectives Patients with childhood hypophosphatasia (HPP) often have unspecific symptoms. It was our aim to identify patients with mild forms of HPP by laboratory data screening for decreased alkaline phosphatase (AP) within a pediatric population. Methods We conducted a retrospective hospital-based data screening for AP activity below the following limits: Girls: ≤12 years: <125 U/L; >12 years: <50 U/L Boys: ≤14 years: <125 U/L; >14 years: <70 U/L. Screening positive patients with otherwise unexplained hypophosphatasemia were invited for further diagnostics: Re-test of AP activity, pyridoxal 5′-phosphate (PLP) in hemolyzed whole blood, phosphoethanolamine (PEA) in serum and urine, and inorganic pyrophosphate in urine. Sequencing of the ALPL gene was performed in patients with clinical and/or laboratory abnormalities suspicious for HPP. Results We assessed a total of 14,913 samples of 6,731 patients and identified 393 screening-positive patients. The majority of patients were excluded due to known underlying diseases causing AP depression. Of the 30 patients who participated in the study, three had a decrease in AP activity in combination with an increase in PLP and PEA. A heterozygous ALPL mutation was detected in each of them: One patient with a short stature was diagnosed with childhood-HPP and started with enzyme replacement therapy. The remaining two are considered as mutation carriers without osseous manifestation of the disease. Conclusions A diagnostic algorithm based on decreased AP is able to identify patients with ALPL mutation after exclusion of the differential diagnoses of hypophosphatasemia and with additional evidence of increased AP substrates.

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