Case report

2020 ◽  
Vol 1 (1) ◽  
pp. 1-6
Author(s):  
Talyta Cortez Grippe ◽  
Ana Carolina Da Bouza Ferreira ◽  
Ana Carolina Aguilar ◽  
André Gustavo Fonseca Ferreira ◽  
Manoel Wilkley Gomes Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Acetylcholine Receptors ◽  
Postsynaptic Membrane ◽  
Good Effect ◽  
Medical Diagnoses ◽  
Tongue Muscles ◽  
Muscle Specific Kinase ◽  
Pharmacological Testing ◽  
Bulbar Dysfunction ◽  
Positive Results

Myasthenia gravis (MG) is a rare autoimmune disease in which antibodies bind to acetylcholine receptors in the postsynaptic membrane at the neuromuscular junction. Muscle-specific kinase (MuSK) antibody-associated MG patients often have severe symptoms, including bulbar dysfunction, respiratory insufficiency, and atrophy of the facial and tongue muscles. Due to its fluctuating nature and the similarity to the symptoms other disorders MG is one of the most challenging medical diagnoses.Fluctuating character and the similarity of symptoms to those of other disorders make MG one of the most challenging medical diagnoses. Initial misdiagnosis of MuSK-MG can lead to worsening of symptoms. The diagnosis is confirmed by positive results on pharmacological testing, electrodiagnostictesting and serum antibodyassay. Symptomatic, immunoactive, and supportive approaches to therapy have very good effect and the prognosis is improved with precocious interventions.

scholarly journals Case report

2020 ◽  
Vol 1 (1) ◽  
pp. 1-6
Author(s):  
Talyta Cortez Grippe ◽  
Ana Carolina Da Bouza Ferreira ◽  
Ana Carolina Aguilar ◽  
André Gustavo Fonseca Ferreira ◽  
Manoel Wilkley Gomes Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Acetylcholine Receptors ◽  
Postsynaptic Membrane ◽  
Good Effect ◽  
Medical Diagnoses ◽  
Tongue Muscles ◽  
Muscle Specific Kinase ◽  
Pharmacological Testing ◽  
Bulbar Dysfunction ◽  
Positive Results

Myasthenia gravis (MG) is a rare autoimmune disease in which antibodies bind to acetylcholine receptors in the postsynaptic membrane at the neuromuscular junction. Muscle-specific kinase (MuSK) antibody-associated MG patients often have severe symptoms, including bulbar dysfunction, respiratory insufficiency, and atrophy of the facial and tongue muscles. Due to its fluctuating nature and the similarity to the symptoms other disorders MG is one of the most challenging medical diagnoses.Fluctuating character and the similarity of symptoms to those of other disorders make MG one of the most challenging medical diagnoses. Initial misdiagnosis of MuSK-MG can lead to worsening of symptoms. The diagnosis is confirmed by positive results on pharmacological testing, electrodiagnostictesting and serum antibodyassay. Symptomatic, immunoactive, and supportive approaches to therapy have very good effect and the prognosis is improved with precocious interventions.

scholarly journals Crime Scene Analysis Through DNA Testing of Canine Feces—A Case Report

2020 ◽  
Vol 10 (1) ◽  
pp. 56-61
Author(s):  
Vishal Somnay ◽  
Thomas Duong ◽  
Ray-Young Tsao ◽  
Joseph A. Prahlow
Keyword(s):  
Case Report ◽  
Epithelial Cells ◽  
Critical Role ◽  
Crime Scene ◽  
Scene Analysis ◽  
Dna Testing ◽  
Forensic Dna ◽  
Forensic Dna Testing ◽  
Positive Results ◽  
Crime Scene Analysis

Forensic DNA testing can play a critical role in homicide investigations. Selecting the appropriate evidence on which to perform DNA testing requires foresight and reasoning based on experience and science. Although successful DNA testing can occur using many substrates, including blood, hair, and sweat/epithelial cells, positive results can also result from testing various unorthodox samples. The authors report on a triple-murder investigation where DNA testing of dog feces at the crime scene matched DNA testing of feces found on the shoe of a suspect resulting in successful prosecution of the case.

scholarly journals Processing of ARIA and release from isolated nerve terminals

1999 ◽  
Vol 354 (1381) ◽  
pp. 411-416 ◽  
Author(s):  
Bomie Han ◽  
Gerald D. Fischbach
Keyword(s):  
Neuromuscular Junction ◽  
Action Potential ◽  
Acetylcholine Receptors ◽  
Molecular Layer ◽  
Postsynaptic Membrane ◽  
High Density ◽  
Small Contribution ◽  
Presynaptic Nerve Terminal ◽  
Voltage Gated

The neuromuscular junction is a specialized synapse in that every action potential in the presynaptic nerve terminal results in an action potential in the postsynaptic membrane, unlike most interneuronal synapses where a single presynaptic input makes only a small contribution to the population postsynaptic response. The postsynaptic membrane at the neuromuscular junction contains a high density of neurotransmitter (acetylcholine) receptors and a high density of voltage–gated Na + channels. Thus, the large acetylcholine activated current occurs at the same site where the threshold for action potential generation is low. Acetylcholine receptor inducing activity (ARIA), a 42 kD protein, that stimulates synthesis of acetylcholine receptors and voltage–gated Na + channels in cultured myotubes, probably plays the same roles at developing and mature motor endplates in vivo . ARIA is synthesized as part of a larger, transmembrane, precursor protein called proARIA. Delivery of ARIA from motor neuron cell bodies in the spinal cord to the target endplates involves several steps, including proteolytic cleavage of proARIA. ARIA is also expressed in the central nervous system and it is abundant in the molecular layer of the cerebellum. In this paper we describe our first experiments on the processing and release of ARIA from subcellular fractions containing synaptosomes from the chick cerebellum as a model system.

scholarly journals Fc-Receptor Targeted Therapies for the Treatment of Myasthenia gravis

2021 ◽  
Vol 22 (11) ◽  
pp. 5755
Author(s):  
Christian W. Keller ◽  
Marc Pawlitzki ◽  
Heinz Wiendl ◽  
Jan D. Lünemann
Keyword(s):  
Myasthenia Gravis ◽  
Acetylcholine Receptors ◽  
Postsynaptic Membrane ◽  
Fc Receptor ◽  
Igg Antibodies ◽  
Effector Functions ◽  
Disease Remission ◽  
Disease Mechanisms ◽  
First Choice ◽  
Complement Deposition

Myasthenia gravis (MG) is an autoimmune disease in which immunoglobulin G (IgG) antibodies (Abs) bind to acetylcholine receptors (AChR) or to functionally related molecules in the postsynaptic membrane at the neuromuscular junction. IgG crystallizable fragment (Fc)-mediated effector functions, such as antibody-dependent complement deposition, contribute to disease development and progression. Despite progress in understanding Ab-mediated disease mechanisms, immunotherapy of MG remained rather unspecific with corticosteroids and maintenance with immunosuppressants as first choice drugs for most patients. More specific therapeutic IgG Fc-based platforms that reduce serum half-life or effector functions of pathogenic MG-related Abs are currently being developed, tested in clinical trials or have recently been successfully translated into the clinic. In this review, we illustrate mechanisms of action and clinical efficacies of emerging Fc-mediated therapeutics such as neonatal Fc receptor (FcRn)-targeting agents. Furthermore, we evaluate prospects of therapies targeting classical Fc receptors that have shown promising therapeutic efficacy in other antibody-mediated conditions. Increased availability of Fc- and Fc receptor-targeting biologics might foster the development of personalized immunotherapies with the potential to induce sustained disease remission in patients with MG.

scholarly journals Case report on the human infection with Tularemia in Mykolaiv Region, 2018

2020 ◽  
Vol 6 (1) ◽  
pp. 15-17
Author(s):  
O. B. Zlenko ◽  
O. S. Ignatenkov ◽  
K. V. Vinokurova ◽  
A. P. Gerilovych
Keyword(s):  
Case Report ◽  
Western Blot ◽  
Blood Serum ◽  
Francisella Tularensis ◽  
Water Samples ◽  
Human Infection ◽  
Agglutination Test ◽  
Surrounding Area ◽  
Type Settlement ◽  
Positive Results

The work aims to provide a study and report the case with a 47-year-old white man from urban-type settlement Oleksandrivka (Voznesensk District, Mykolaiv Region) diagnosed with pharyngitis, amygdalitis, polylymphoadenopathy, and buboadenitis caused by Francisella tularensis. The tularemia diagnosis in the patient was confirmed with agglutination test and western blot of patient’s blood serum in dilutions 1:100 and 1:200 respectively. The additional surveillance study (rodents, ticks, and water samples) in the surrounding area of the patient’s house showed positive results for F. tularensis in ticks in dilution 1:160++++

COMBINED COGNITIVE-BEHAVIOURAL AND PHYSIOTHERAPY TREATMENT OF DIZZINESS: A CASE REPORT

1998 ◽  
Vol 26 (4) ◽  
pp. 365-369 ◽  
Author(s):  
Gerhard Andersson ◽  
Lucy Yardley
Keyword(s):  
Case Report ◽  
Head Movement ◽  
Provocation Test ◽  
Questionnaire Data ◽  
Physiotherapy Treatment ◽  
Balance System ◽  
Cognitive Behavioural ◽  
Fear And Anxiety ◽  
Balance Problems ◽  
Positive Results

Dizziness is a distressing symptom that is often associated with fear and anxiety, as well as organic balance system dysfunction. We report here on the successful treatment of a 68-year-old woman with dizziness and balance problems. Treatment was given within a cognitive behavioural framework, but also included physiotherapy in the form of head movement exercises. Results were evaluated by a balance platform test, a behavioural provocation test and questionnaire data. Positive results were found in each of these three assessment domains.

scholarly journals Plasma vitronectin is reduced in patients with myasthenia gravis: Diagnostic and pathophysiological potential

2019 ◽  
Vol 8 ◽  
pp. 184945441987591 ◽  
Author(s):  
Antonio Junior Lepedda ◽  
Giovanni Andrea Deiana ◽  
Omar Lobina ◽  
Gabriele Nieddu ◽  
Paola Baldinu ◽  
...  
Keyword(s):  
Immune Response ◽  
Extracellular Matrix ◽  
Myasthenia Gravis ◽  
Cell Attachment ◽  
Postsynaptic Membrane ◽  
Clinical Value ◽  
Disease Biomarkers ◽  
Skeletal Muscle Weakness ◽  
Plasma Fractions ◽  
Muscle Specific Kinase

Myasthenia gravis (MG) is an autoimmune disease leading to varying degrees of skeletal muscle weakness. It is caused by specific antibodies directed against definite components in the postsynaptic membrane at the neuromuscular junction (NMJ), such as the acetylcholine receptor (AChR) and the muscle-specific kinase (MUSK) receptor. In clinical practice, MG patients may be classified into three main subgroups based on the occurrence of serum autoantibodies directed against AChR or MUSK receptor or antibody-negative. As the MG subgroups differ in terms of clinical characteristics, disease pathogenesis, prognosis, and response to therapies, they could benefit from targeted treatment as well as the detection of other possible disease biomarkers. We performed proteomics on plasma fractions enriched in low-abundance proteins to identify potential biomarkers according to different autoimmune responses. By this approach, we evidenced a significant reduction of vitronectin in MG patients compared to healthy controls, irrespective of the autoantibodies NMJ target. The obtained results were validated by mono- and two-dimensional Western blotting analysis. Vitronectin is a multifunctional glycoprotein involved in the regulation of several pathophysiological processes, including complement-dependent immune response, coagulation, fibrinolysis, pericellular proteolysis, cell attachment, and spreading. The pathophysiological significance of the reduction of plasma vitronectin in MG patients has yet to be fully elucidated. It could be related either to a possible deposition of vitronectin at NMJ to counteract the complement-mediated muscle damage at this level or to a parallel variation of this glycoprotein in the muscle extracellular matrix with secondary induced alteration in clustering of AChRs at NMJ, as it occurs with variation in concentrations of agrin, another extracellular matrix component. The clinical value of measuring plasma vitronectin has yet to be defined. According to present findings, significantly lower plasma values of this glycoprotein might be indicative of an impaired complement-dependent immune response.

scholarly journals Use of Movement System Diagnoses in the Management of Patients With Neuromuscular Conditions: A Multiple-Patient Case Report

2007 ◽  
Vol 87 (6) ◽  
pp. 654-669 ◽  
Author(s):  
Patricia L Scheets ◽  
Shirley A Sahrmann ◽  
Barbara J Norton
Keyword(s):  
Case Report ◽  
Health Care Professionals ◽  
Diagnostic System ◽  
Force Production ◽  
Human Movement ◽  
Treatment Selection ◽  
Patient Case ◽  
Medical Diagnoses ◽  
Movement System ◽  
Neuromuscular Conditions

Background and PurposeMedical diagnoses are not sufficient to guide physical therapy intervention. To provide a rational basis for treatment selection by physical therapists, we developed a set of diagnoses at the level of impairment that are relevant to the human movement system. The diagnoses describe the primary human movement system problem and provide a basis for matching a specific problem with appropriate treatment. The purposes of this 3-patient case report are to illustrate an updated version of the diagnostic system and to show how treatment decisions can be made relative to both the movement system diagnosis and the patient's prognosis.Case Descriptions and OutcomesWe diagnosed 3 patients with hemiplegia due to stroke as having 3 different movement system problems: force production deficit, fractionated movement deficit, and perceptual deficit. Specific intervention and actual patient outcomes for each case are outlined.DiscussionUse of movement system diagnoses may have multiple benefits for patient care. The possible benefits include decreasing the variability in management of patients with neuromuscular conditions, minimizing the trial-and-error approach to treatment selection, improving communication among health care professionals, and advancing research by enabling creation of homogenous patient groupings.

scholarly journals Cytologic and histologic features of spinal cord ependymoma in a young dog: a case report

2010 ◽  
Vol 55 (No. 1) ◽  
pp. 35-38 ◽  
Author(s):  
A. Sfacteria ◽  
F. Macrì ◽  
L. Perillo ◽  
G. Rapisarda ◽  
G. Lanteri ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Contrast Medium ◽  
Histological Examination ◽  
Neoplastic Cells ◽  
Spinal Ependymoma ◽  
Eosinophilic Cytoplasm ◽  
Cytoplasmic Processes ◽  
Positive Results ◽  
Fibrillar Network

A case of intramedullary ependymoma in a young dog is reported. A two year old dog was presented with paralysis of the forelimbs. At myelographic examination, an intramedullary pattern, blocking the progression of contrast medium, was observed. At necropsy, a 3 × 2 cm white-greyish mass was found extending from the 3<sup>rd</sup> to 5<sup>th</sup> lumbar levels. At cytological and histological examination, the mass was highly cellular and was comprised of ovoid cells with indistinct borders, elongated eosinophilic cytoplasm and round to oval vesicular nuclei. Cytoplasmic processes formed a fibrillar network wherein true rosettes and many pseudorosettes around a fibrovascular stroma were observed. Immunohistochemistry for vimentin and GFAP gave strong positive results in the neoplastic cells, especially around pseudorosettes and confirmed the diagnosis of intramedullary spinal ependymoma.

scholarly journals Absence of filipin-sterol complexes from the membranes of active zones and acetylcholine receptor aggregates at frog neuromuscular junctions.

1981 ◽  
Vol 88 (2) ◽  
pp. 453-458 ◽  
Author(s):  
Y Nakajima ◽  
P C Bridgman
Keyword(s):  
Acetylcholine Receptor ◽  
Acetylcholine Receptors ◽  
Neuromuscular Junctions ◽  
Freeze Fracture ◽  
Cholesterol Content ◽  
Postsynaptic Membrane ◽  
Large Particles ◽  
Glutaraldehyde Solution ◽  
Active Zones ◽  
Low Cholesterol

The polyene antibiotic filipin reacts specifically with membrane cholesterol and produces distinctive membrane lesions. We treated frog cutaneous and sartorius muscles with 0.04% filipin in a glutaraldehyde solution with or without prefixation with glutaraldehyde. Freeze-fracture of these muscles revealed numerous 19 to 38-nm protuberances and depressions (filipin-sterol complexes) in most areas of muscle, axon, and Schwann cell membranes. In the presynaptic membrane, however, these filipin-sterol complexes were absent from active zones consisting of ridges bordered with double rows of particles. In the postsynaptic membrane, filipin-sterol complexes were also virtually absent from the areas occupied by aggregates of large particles representing acetylcholine receptors. These results suggest that the membrane regions of active zones and acetylcholine receptor aggregates have a low cholesterol content.

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