Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

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.

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

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.

Clinical Features and Genotypes of Laing Distal Myopathy in a Group of Chinese Patients, With In-Frame Deletions of MYH7 as Common Mutations

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.

Morphogenetic Variability as Potential Biomarker of Neurogenic Lesion Degree in Children with Spina Bifida

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.

Schwannoma of the upper lip: A case report and literature review

Introduction. Schwannomas or neurilemmomas are well demarcated, benign neurogenic lesions arising by a fibroblastic proliferation of the nerve sheath cell (Schwann cell). They usually present as solitary encapsulated lesions with rare occurrence in the upper lip. Non-diagnosed or misdiagnosed schwannomas present a high risk for the tumor to continue growing and exerting pressure on surrounding nerves. These tumours based on their location could lead to facial weakness and paralysis, pressure in ears, tinnitus, hearing loss, balance loss, and could lead to a life-threatening situation. Case Outline. This case is a rare presentation of a schwannoma located in the upper lip of a 21-year-old male patient of Indian origin. The patient complained of a swelling in the mouth with a difficulty in keeping the mouth closed. The swelling was surgically excised and the patient healed completely. Conclusion. This case of occurrence of tumor on the upper lip points to the possibility of considering schwannoma as a possibility in the diagnosis of oral tumors in the future, as the location of the tumor was rare and had a high chance of misdiagnosis.

To the noradrenergic component of the mechanisms of stress-limiting and healing effects of dalargin

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.

Workload Impact on Carpal Tunnel Syndrome Growth / Uticaj radnog opterećenja na razvoj sindroma karpalnog tunela

Carpal tunnel syndrome (CTS) is the most common compression neuropathy that affects 3 to 6% of people in the general population. It represents one of the most significant health and financial problems in the working population. Our study included 98 patients. The women were 77 (78.6%) and men 21 (21.4%). Age has averaged 52 ± 11.1 years. The respondents were employed in sectors of the economy in jobs at high risk for the occurrence of CTS: agriculture and livestock breeding, services, construction, food production and public administration. The respondents were subject of a detailed physical examination and electromyoneurographic tests (EMG) to confirm the diagnosis and level of neurogenic damage. It was found that the hypotrophy and weakness of thenar muscle and a positive Phalen’s sign showed statistically highly significant difference in relation to the level of neurogenic lesions.

α‎1-Antitrypsin Deficiency Emphysema

• Thymoma • Teratoma • Castleman disease • Substernal goiter • Hodgkin disease, both pretreatment and posttreatment • Thymoma • Leiomyoma of the esophagus • Teratoma • Substernal goiter • Neurogenic lesions