CONGENITAL MYOPATHIES (CNM)
Tammy Dela RosaJuliana Almeida DominguesCarlos Roberto MartinsJosiel B. DomingosC. Iwabe-MarcheseElisa PachecoLuciano de Souza QueirózMarcondes C. FrançaA. Nucci
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Histopathological striated muscle examination is one of the most important and sensitive tests in diagnosis of muscle and/or nerve diseases. Although muscle biopsy is a relatively easy procedure, it is not frequently performed in small animal practice conditions. Different biopsy techniques have been described in veterinary literature. Punch biopsy of striated muscle appears to be a less invasive and quicker method in comparison with traditional surgical excision technique. Additionally, punch biopsy provide good quality and adequate amount of muscle tissue for diagnostic histopathological evaluation. The aim of this study is to describe striated muscle punch biopsy technique and to encourage use of it under the conditions of small animal practice. The described biopsy method can be specially advantageous in screening of inherited muscle diseases in affected litters or even wider animal population.
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Ptosis is an abnormally low positioned upper eyelid which can decrease or even occlude the vision completely. In most of the cases, Ophthalmologists recommend surgery to treat Ptosis. But there are severe complications associated with surgery which include exposure keratopathy, recurrence of Ptosis and irregular contour of lid. According to Acharya Vagbhat it can be correlated to Vatahatha varthma which is an Asadhya vataja Varthma roga. Though Asadhya, conservative treatment can be done in Ptosis especially for tomophobians. A 66-yearold man presented 4 years history of acute onset painless right eye Ptosis. The treatment started with Nasya followed by Bruhmana and Vata shamana chikitsa. After 45 days of treatment, there was an improvement in grade of Ptosis.
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ABSTRACT Introduction : The utility of repeat muscle biopsy has not been adequately evaluated. Methods : A retrospective review was undertaken of 144 repeat muscle biopsies performed from 1980 to 2017. Repeat biopsy was considered clinically relevant if it provided a new diagnosis, changed the existing diagnosis, or led to treatment changes or further investigations. Results : Repeat biopsy was abnormal in 118 cases, different from the initial biopsy in 67 cases, and specific in 40 cases. Factors with a significant effect on clinical relevance of the repeat biopsy ( P < 0.05) were an abnormal, specific, or inflammatory initial biopsy, proximal muscle weakness, absence of myalgia, and a repeat biopsy that is different, specific, or consistent with polymyositis or inclusion body myositis. Conclusions : Utility of repeat biopsy was limited to weak patients whose initial biopsy showed inflammatory myositis. Ongoing advances in the diagnosis of immune inflammatory myopathies have led to evolution of the role of repeat biopsy. Muscle Nerve , 2019
Nerve biopsy
myalgia
Inclusion body myositis
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Background: Ptosis or blepharoptosis is a condition where the eyelid droops below its normal position. Ptosis can affect the visual field by reducing the patient's visual acuity. Ptosis is also considered a problem in appearance because the patient will always look tired and sleepy. If not treated immediately, ptosis can cause further complications, such as refractive errors, strabismus, and amblyopia. The purpose of this study is to identify the demographic and clinical characteristics of ptosis patients at Prof. dr. I G.N.G. Ngoerah Hospital. Methods: This descriptive study with a cross-sectional design and total sampling was carried out at Prof. dr. I G.N.G. Ngoerah Hospital with ptosis patient data in 2019-2021. Results: There were 45 ptosis patients at Prof. dr. I G.N.G. Ngoerah Hospital in 2019-2021. In this study, the majority of ptosis patients were male. (53.3%). Patients in this study had a mean age of 37.91±23.55 years old with a median of 33(1-85). Unilateral ptosis (88.9%) and acquired ptosis (73.3%) were the most common ptosis cases found in this study. There are three etiologies that dominate ptosis cases, namely neurogenic (28.9%), traumatic (28.9%), and myogenic (26.7%) ptosis. Most of the ptosis patients have a severe degree of ptosis (60.0%). As many as 80% of ptosis patients receive surgical management. Conclusion: Ptosis cases in Prof. dr. I G.N.G. Ngoerah Hospital in 2019-2021 were dominated by male patients, unilateral ptosis, acquired ptosis, neurogenic, and severe degree. Further research is required to evaluate the association between variables. with a larger population. Latar Belakang: Ptosis atau blepharoptosis merupakan kondisi turunnya kelopak mata di bawah posisi normal. Ptosis dapat memengaruhi lapang pandang dengan mengurangi ketajaman visual pasien. Ptosis juga dianggap sebagai permasalahan dalam penampilan dikarenakan pasien akan selalu terlihat kelelahan dan mengantuk. Apabila tidak segera ditangani, ptosis dapat menyebabkan terjadinya komplikasi lebih lanjut, seperti kelainan refraksi, strabismus, dan ambliopia. Tujuan dari penelitian ini adalah untuk mengetahui karakteristik demografis dan klinis pasien ptosis di RSUP Prof. dr. I G.N.G. Ngoerah. Metode: Penelitian deskriptif dengan desain cross-sectional dan penentuan sampel secara total sampling ini dilaksanakan di RSUP Prof. dr. I G.N.G. Ngoerah dengan data pasien ptosis pada tahun 2019-2021. Hasil: Pasien ptosis di RSUP Prof. dr. I G.N.G. Ngoerah pada tahun 2019-2021 berjumlah 45 orang. Sebagian besar pasien ptosis dalam penelitian ini berjenis kelamin laki-laki (53,3%). Pasien dalam penelitian ini memiliki rerata usia 37,91±23,55 tahun dengan median 33 (1-85). Ptosis unilateral (88,9%) dan acquired ptosis (73,3%) merupakan kasus ptosis yang mendominasi dalam penelitian ini. Terdapat tiga etiologi yang mendominasi kasus ptosis pada pasien, yaitu ptosis neurogenik (28,9%), traumatik (28,9%), dan miogenik (26,7%). Sebagian besar pasien ptosis memiliki derajat keparahan dalam kategori berat (60,0%). Sebanyak 80% dari pasien ptosis menerima tatalaksana operasi. Simpulan: Kasus ptosis di RSUP Prof. dr. I G.N.G. Ngoerah pada tahun 2019-2021 didominasi oleh pasien laki-laki, ptosis unilateral, acquired ptosis, neurogenik, dan derajat berat. Penelitian lebih lanjut diperlukan untuk menilai hubungan antar variabel dengan populasi yang lebih besar.
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Muscular dystrophies are progressive, genetic disorders of muscle degeneration. The current gold standard for diagnosis is muscle biopsy or genetic studies. Muscle biopsy is an invasive procedure and genetic testing facilities are available only in a few centers. Thus, a diagnostic test that is easily available, simpler, and less invasive is desirable. Over the past 2 decades, skin biopsy has been evolving as a suitable option. Two cases of sarcoglycanopathy are described here, which have been correctly diagnosed by skin biopsy. Muscle biopsy has been used as the gold-standard diagnostic method. Skin biopsy can substitute for muscle biopsy as the preliminary diagnostic tool directing appropriate molecular testing. However, these results require validation in studies with an adequate sample size. This holds promise for the future when repeated biopsies will be required for evaluating protein rescue in trials of novel treatment options in these disorders.
Gold standard (test)
Skin biopsy
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The size and quality of muscle specimens obtained by use of a percutaneous biopsy technique were studied. All biopsies were performed under local anesthesia, using an 11-gauge biopsy needle. The mean +/- SEM size of specimens obtained from 128 biopsies of the semitendinosus muscles of 16 Alaskan Huskies was 23.8 +/- 4.4 mg. All biopsy specimens were of sufficient quality to permit histochemical differentiation of the fiber types by use of myosin ATPase staining. An additional 8 biopsy specimens were obtained from 1 dog and analyzed for muscle glycogen content. These specimens contained 50.6 +/- 7.2 mmol of glucose/kg of muscle wet weight. This modified biopsy procedure was free of notable complications, and repeatable use produced specimens of adequate size and quality for histologic and biochemical analysis. It is concluded that this procedure is a safe and reliable alternative to open biopsy for diagnosis and management of neuromuscular, metabolic, and nutritional myopathies.
Muscle fibre
Myosin ATPase
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The aim of our study was to assess the effectiveness of the ptosis induced by injection of Lantox (botulotoxin type A) into levator muscle projection in neurosurgical patients with lagophthalmos and trophic keratitis. The study included 66 patients at the age from 11 to 67 years. Lantox dose used was 10-25 U. Ptosis appeared after 1-7 days. Complete induced ptosis developed in 1-17 days and remained within 6-150 days. Full induced eyelid ptosis developed in 44 patients. Incomplete ptosis was observed in 19 patients. Drug resistance was seen in 3 patients. Our study results demonsrated effectiveness of the induced ptosis: complete recourse of trophic keratitis at development was seen in patients with complete drug-induced ptosis and significant decrease of trophic keratitis was observed in patients with semi-ptosis.
Lagophthalmos
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Treating unilateral ptosis can be challenging and a proper preoperative evaluation may help prevent unexpected outcomes on the contralateral lid. Preoperative evaluation should include testing for Hering's law, which remains useful in understanding the phenomenon of induced contralateral eyelid retraction in the context of ptosis. Approximately 10% to 20% of patients with unilateral ptosis have some degree of induced retraction on clinical evaluation in the contralateral lid. When there is a positive Hering's test on preoperative examination, the surgeon should consider a bilateral ptosis procedure. The surgical approach to unilateral ptosis depends on the severity of the ptosis and its etiology, and the surgeon should be aware of which procedure is most likely to provide the best outcome in selected instances.
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Muscle biopsy is often incorrectly performed despite the fact that it is a relatively simple procedure. A consistently reproducible surgical technique in 93 open vastus lateralis muscle biopsies implemented in conjunction with neuromuscular and malignant hyperthermia research demonstrated 14 cases of malignant hyperthermia and a variety of forms of neuromuscular pathology. No wound complications or disabilities have resulted from this procedure. The procedure includes careful selection of biopsy site, regional anesthesia, atraumatic dissection, and immediate processing of the biopsy sample. A new muscle biopsy clamp is described. The authors recommend the vastus lateralis for the biopsy site unless another area of involvement is specifically indicated. Careful attention to technical details is required for optimal results.
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