Peripheral tumor and tumor-like neurogenic lesions

2013 ◽  
Vol 82 (1) ◽  
pp. 38-50 ◽  
Author(s):  
Evandro Abreu ◽  
Sébastien Aubert ◽  
Guillaume Wavreille ◽  
Ramon Gheno ◽  
Clarissa Canella ◽  
...  
Keyword(s):  
Healthcare ◽  
2020 ◽  
Vol 8 (1) ◽  
pp. 68
Author(s):  
Ivana Petronic ◽  
Dragoslav Marinkovic ◽  
Dejan Nikolic ◽  
Dragana Cirovic ◽  
Zoran Golubovic ◽  
...  

Aims. In this study we analyzed the degree of genetic homozygosity among spina bifida patients with different degrees of neurogenic lesion (N = 82), as well as their clinical and neurological characteristics, compared to healthy control individuals (N = 100). Methods. According to clinical and electromyographic findings, we separately assessed the type of neurogenic lesion (paresis or paralysis). Regarding the degree of neurogenic lesion, patients were classified into three groups: mild, moderate and severe. We analyzed six muscles. For assessing the degree of individual genetic homozygosity, we tested the presence and distribution of 15 homozygous recessive characteristics (HRC). Results. The predominant type of neurogenic lesion was paresis. Every third evaluated muscle was affected in the group with mild neurogenic lesion, while more than half were affected in the group with severe neurogenic lesion. The average values of HRCs among different groups of patients and the control showed the population-genetic differences that exist among them (control x ¯ HRC/15 = 3.0 ± 0.2; mild x ¯ HRC/15 = 3.6 ± 0.2; moderate x ¯ HRC/15 = 4.8 ± 0.3; severe neurogenic lesion x ¯ HRC/15 = 5.0 ± 0.3). Conclusions. Spina bifida patients have a significant increase of recessive homozygosity and a decreased variability compared to the control group. As neurogenic lesions are more severe, more affected muscles are present, as well as the increase of individual recessive homozygosity.


2020 ◽  
Author(s):  
Meng Yu ◽  
Ying Zhu ◽  
Yuanyuan Lu ◽  
He Lv ◽  
Wei Zhang ◽  
...  

Abstract Background: Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients of Laing distal myopathy. Results: Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness were common in our patients as well as neck flexion weakness. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting these are common mutations of Laing distal myopathy. Conclusions: Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of MYH7 gene are common causes of Laing distal myopathy.


2010 ◽  
Vol 1 (1) ◽  
pp. 61 ◽  
Author(s):  
Daddy Suradi Halim ◽  
Abdullah Pohchi ◽  
Pang EE Yi

The purpose of this preliminary retrospective study was to determine the prevalence of fibroma in oral mucosa among patients attending USM dental clinic from 1/6/2006-1/6/2010. Fibroma of the oral mucosa is the most common benign tumor of the oral cavity. It is a reactive hyperplasia of fibrous connective tissue in response to local irritation or trauma. A lesion on any part of the oral mucosa have a broad differential diagnosisranging from traumatic lesions (mucocele), neurogenic lesions (neurofibromatosis), lipoma , epithelial tumors (squamous papilloma) and inflammatory/reactive hyperplasia of soft tissue (pulp polyp). A total number of 192 patients (82 male and 110 female) who are registered in the Oral Medicine and Oral Pathology Log Book were included in this study regardless of their age, 16 % of them were diagnosed to have fibroma and out of that, 29% of them were male and 79% female. The peak incidence of the lesion was in the 3rd decade of life. The lesions occurred in the tongue, lip mucosa, sulcus region and buccal mucosa were each to be 12.9%, 12.9% , 32.2 % and 41.9%. This study shows that fibroma is one of the common oral mucosal lesion and it occurred mostly in the 3rd decade of life where the prevalence is higher in female patients.


2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Meng Yu ◽  
Ying Zhu ◽  
Yuanyuan Lu ◽  
He Lv ◽  
Wei Zhang ◽  
...  

Abstract Background Laing distal myopathy is a rare autosomal dominant inherited distal myopathy caused by mutations of the MYH7 gene affecting mainly the rod region. We described the clinical features, muscle MRI and pathological changes as well as genetic mutations in a group of Chinese patients with Laing distal myopathy. Results Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. Ankle dorsiflexion and finger extension weakness, as well as neck flexion weakness were common in our patients. Myopathic as well as neurogenic lesions were suggested by electromyography in different patients. Respiratory abnormality of sleep apnea was detected in two of our patients stressing the necessity of close respiratory monitoring in this disease. Muscle MRIs showed similar features of concentric fatty infiltration of anterior thigh muscles together with early involvement of tibialis anterior and extensor hallucis longus. However, muscle pathological presentations were varied depending on the biopsied muscles and the severity of the disease. In-frame deletions of the MYH7 gene made up 3/4 of mutations in our patients, suggesting that these are common mutations of Laing distal myopathy. Conclusions Our study further expanded the phenotypes and genotypes of Laing distal myopathy. In-frame deletions of the MYH7 gene are common causes of Laing distal myopathy.


2016 ◽  
Vol 14 (4) ◽  
pp. 61-66
Author(s):  
Oleg N Zabrodin

The article presents the facts of the stress-limiting and healing effects of a synthetic analogue of leucine-enkefalin dalargin (D), the analysis of literature data of the modulating effects of D on the activity of sympathetic-adrenal system (SAS) in various extraordinary influences. D prevents: hyperactivity of SAS, associated development of dystrophic-destructive changes in the organs (heart, gastric mucosa, duodenum) and the exhaustion of catecholamine’s (CA) depot in the sympathetic endings. It is noted that similar protective effects against the development of neurogenic lesions in the organs (heart, gastric mucosa, liver and pancreas) have pharmacological agents with antiadrenergic component of actions (gangliolitiks and sympatholitiks, alpha - and beta-adrenoblokers). In the article mapped the healing effects of D in relation to the gastric mucosa destructions, skin incisional wounds, bone fractures with the ability of the sympathetic nervous system to stimulate reparative regeneration in various tissues (cornea. gastric mucosa, myocardium, liver, sympathetic reinnervation). It is concluded that the stress-limiting and healing effects of D have a noradrenergic component associated with modulating effect of D on the activity of SAS. In the conditions of extraordinary influences D suppresses SAS hyperactivity, keeping the reserves of CA in the sympathetic endings. In the implementation of reparative regeneration of tissues CA, and primarily sympathetic mediator noradrenalin, promote healing of damaged organs and tissues.


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