Myotonic dystrophy type 1(DM1)is a multisystem trinucleotide repeat expansion disorder usually referred to the department of neurology with complaints of progressive muscle weakness and myotonia.This article reported a 33-year-old female patient with DM1 presenting with acute respiratory failure.Muscle bi-opsy in vastus lateralis showed significantly increased internal nuclei.Genetic test show CTG repeat expansions with the size of(847±76)in dystrophia myotonica protein kinase(DMPK)gene on chromosome 19.This case report broadens the clinician's understanding of the atypical clinical manifestations of DM1,so as to avoid missed diagnosis and misdiagnosis.

Overlap myoclonic epilepsy with ragged-red fibers (MERRF)-Leigh syndrome is a rare mitochondrial encephalomyopathy. A case of MERRF-Leigh syndrome associated with mitochondrial DNA 8344A>G (m.8344A>G) mutation was reported in this article. The patient has suffered from the disease since 15-year old with myoclonus, exercise intolerance, ataxia, limb weakness, dysphasia, dyspnea, blurred vision and hearing loss. Magnetic resonance imaging revealed lesions on right thalamus, bilateral medulla and lumbar spinal cord and atrophy of cervical spinal cord. Electromyography showed predominantly axonal damage of both sensory nerve and motor nerve. Histochemical analyses revealed ragged red fibers, ragged blue fibers, succinate dehydrogenase-stronghly reactive vessels and decreased cytochrome oxidase activity. Gene tests demonstrated a high level of m.8344A>G mutation and m. 14484T>C mutation. MERRF-Leigh overlap syndrome with m.8344A>G mutation was rare. Bulbar paralysis following myoclonus is the main clinical symptom.

Objective: To discuss the feasibility and effectiveness of using micro-CT in bone-implant contact (BIC) evaluation in dogs, and to provide reference for clinical and scientific research. Methods: Bilateral mandibular second premolar and first molar of six male Beagle dogs were extracted. After 3 months′ healing, eight implants were placed in bilateral mandible of each dog, four on each side. Dogs were sacrificed at 2 weeks, 4 weeks and 8 weeks after implant placement, two on each time point. Samples were scanned with micro-CT and digitally reconstructed. Bone-implant interface was analyzed at different analysis regions (25, 50 and 100 μm from implants′ surface), different detection range models were obtained (each time point consists 48 models), and BIC was evaluated, and the results were counted as micro-CT₂₅, micro-CT₅₀, and micro-CT₁₀₀ groups. Then undecalcified slides were made (three slides for each sample) and stained with toluidine blue for observation and analysis of BIC using an optical microscope, and the results were counted as optical microscope groups. The advantages and disadvantages, evaluation efficiency and BIC of different methods were analyzed. Results: To evaluate BIC of single sample, it took about 90 minutes by micro-CT, which was much lower than the time of 14 days by optical microscope. The success rates of modeling of micro-CT₂₅, micro-CT₅₀, and micro-CT₁₀₀ groups all were 100.0% (48/48), and total success rate of micro-CT group was 100.0% (144/144). For optical microscope groups, the success rates of making slides 2, 4, 8 weeks were 89.6% (43/48), 93.8% (45/48) and 93.8% (45/48), respectively, and total success rates of optical microscope group was 92.4% (133/144). At 2, 4,8 weeks after implantation, BIC in micro-CT₂₅ group was significantly smaller than that in optical microscope group at the same time point (P<0.05). However, at 2, 4,8 weeks after implantation, BIC of the micro-CT₅₀ and micro-CT₁₀₀ groups showed no significant difference with optical microscope groups at the same time point (P>0.05). A significant correlation (P<0.001, each) was seen between slides and micro-CT (25, 50, 100 μm groups) concerning BIC (r=0.680, r=0.892, r=0.713), and error bias was -19.4%, -0.9%, 3.0%, respectively. The probability within the 95% limits of agreement were 97.9%. Conclusions Micro-CT is a faster, simpler and more efficient way to analyze BIC at the implant-bone interface than optical microscope observation. BIC analysis by selecting 50 μm from implants′ surface as analysis region using micro-CT is in consistent with that using the optical microscope.

Objectives: To propose a novel clinical classification system of gallbladder cancer, and to investigate the differences of clinicopathological characteristics and prognosis based on patients who underwent radical resection with different types of gallbladder cancer. Methods: The clinical data of 1 059 patients with gallbladder cancer underwent radical resection in 12 institutions in China from January 2013 to December 2017 were retrospectively collected and analyzed.There were 389 males and 670 females, aged (62.0±10.5)years(range:22-88 years).According to the location of tumor and the mode of invasion,the tumors were divided into peritoneal type, hepatic type, hepatic hilum type and mixed type, the surgical procedures were divided into regional radical resection and extended radical resection.The correlation between different types and T stage, N stage, vascular invasion, neural invasion, median survival time and surgical procedures were analyzed.Rates were compared by χ² test, survival analysis was carried by Kaplan-Meier and Log-rank test. Results: Regional radical resection was performed in 940 cases,including 81 cases in T1 stage,859 cases in T2-T4 stage,119 cases underwent extended radical resection;R0 resection was achieved in 990 cases(93.5%).The overall median survival time was 28 months.There were 81 patients in Tis-T1 stage and 978 patients in T2-T4 stage.The classification of gallbladder cancer in patients with T2-T4 stage: 345 cases(35.3%)of peritoneal type, 331 cases(33.8%) of hepatic type, 122 cases(12.5%) of hepatic hilum type and 180 cases(18.4%) of mixed type.T stage(χ²=288.60,P<0.01),N stage(χ²=68.10, P<0.01), vascular invasion(χ²=128.70, P<0.01)and neural invasion(χ²=54.30, P<0.01)were significantly correlated with the classification.The median survival time of peritoneal type,hepatic type,hepatic hilum type and mixed type was 48 months,21 months,16 months and 11 months,respectively(χ²=80.60,P<0.01).There was no significant difference in median survival time between regional radical resection and extended radical resection in the peritoneal type,hepatic type,hepatic hilum type and mixed type(all P>0.05). Conclusion With application of new clinical classification, different types of gallbladder cancer are proved to be correlated with TNM stage, malignant biological behavior and prognosis, which will facilitate us in preoperative evaluation,surgical planning and prognosis evaluation.

BACKGROUND: The aim of this study is to explore the pathogenic bacteria type, distribution, drug resistance and influencing factors of nosocomial pulmonary infection in patients with lung cancer during chemotherapy. METHODS: This study retrospectively analyzed the clinical data of 411 patients with lung cancer who were hospitalized in the First Affiliated Hospital of Zhejiang University Medical College from January 2017 to December 2018, and counted the incidence of nosocomial lung infection, pathogens, drug resistance and influencing factors. RESULTS: There were 184 cases of nosocomial pulmonary infection in 411 lung cancer patients during chemotherapy, the infection rate was 44.77%. The isolated pathogens included Gram-negative bacteria, Gram-positive bacteria, viruses, fungi and tuberculosis, among which Gram-negative bacteria accounted for 37.25%, followed by virus infection, accounting for 15.69%. Pseudomonas aeruginosa and Klebsiella pneumoniae are the main Gram-negative bacteria, Staphylococcus aureus and Streptococcus pneumoniae are the common gram-positive bacteria, influenza B virus is the main virus, Candida and Aspergillus are the most common fungi. The resistance rate of Pseudomonas aeruginosa to imipenem was 26.67%, while that of Klebsiella pneumoniae to imipenem was 12.50%, and that of the main Gram-positive bacteria to vancomycin was 0.00%. Hypoproteinemia, long chemotherapy cycle, high-intensity chemotherapy, chronic obstructive pulmonary disease and basic bronchiectasis were the high risk factors of lung cancer patients with nosocomial pulmonary infection during chemotherapy (P<0.05). CONCLUSIONS During the chemotherapy of lung cancer patients with nosocomial pulmonary infection, the distribution and drug resistance of pathogenic bacteria have certain characteristics. Clinicians should strengthen the detection of pathogenic bacteria and their drug resistance. On the basis of symptomatic treatment, to achieve the purpose of ensuring the treatment effect and prolonging the survival period of patients, preventive measures should be taken for high-risk patients to reduce the chemotherapy cycle and intensity as much as possible to reduce the incidence of infection life.

Objective To summarize the clinical features,natural history and causes of death of mitochondrial encephalomyopathy,lactic acidosis and stroke-like episodes (MELAS).Methods We retrospectively evaluated the clinical findings of 64 patients diagnosed as MELAS more than 3 years (death cases excluded) in Huashan Hospital from January 2005 to March 2017 and analyzed the natural course and the causes of death of the disease.Results Among 64 patients,the male-to-female ratio was 1.3 ∶ 1.Median onset age was 20.5 (16.8) years.The peak of incidence age was from 14 to 22 years.The most common features of MELAS in acute phase were seizures (48/64,75.0％),headache (41/64,64.1％),blurred vision (37/64,57.8％),nausea and vomiting (27/64,42.1％),fever (25/64,39.1％),mental and behavioral disorder (24/64,37.5％).Lactate dehydrogenase (31/60,51.6％),resting blood lactic acid (43/58,74.1％) and cerebral spinal fluid lactic acid (9/9) were elevated.Abnormal findings in electroencephalogram (36/40,90.0％),electrocardiogram (37/47,78.7％),electromyography (25/41,61.0％) were detected.In this cohort,20 patients (20/64,31.3％) with MELAS were dead.A Kaplan-Meier survival curve showed the estimated overall median survival time was 12 years.The median survival time of the group onset before sex maturity (≤ 14 years) was 8 years and that in the group onset after sex maturity (＞ 14 years) was 21 years.The causes of death were cardiogenic incidence (4/20,20.0％),pulmonary infection (4/20,20.0％),lactic acidosis (2/20,10.0％) and status epilepticus (2/20,10.0％).Conclusions MELAS is usually presented in young people associated with high mortality rate.The leading causes of death are cardiogenic,pulmonary infection and lactic acidosis.

Objective To summarize the characteristic of muscle MRI of lower limbs in patients with GNE myopathy and to explore the correlation between the fatty degenerative score of muscle MRI and clinical phenotype.Methods This was a prospective study. Seventeen patients with genetically confirmed GNE myopathy,having lower limb muscle MRI test and completed clinical and laboratory data.The degree of fatty degeneration in 18 muscles of lower limbs in each patient was grading.According to the GM-W score, these patients were divided into two groups.GM-W score≤3 were divided into mild group(n=8)and GM-W score≥ 4 were divided into severe group(n=9). Kruskal-Wallis test was used to compare the fatty degenerative score in different muscles of the thigh and the calf level;Mann-Whitney U test was used to compare score of the same muscle between mild and severe group;Spearman rank correlation test was used to analysis the relationship between fatty degenerative score and the course of disease (year), GM-W score, creatinine kinase (IU/L), respectively.Results At the thigh level, the most severely involved muscle of GNE myopathy was semi-tendinosusand adductor, followed by semi-membranous, biceps femoris and gracilis. There was no statistically significant difference in the fatty degenerative score of the above-mentioned muscles (P=0.058). At the calf level, the most severely involved muscle was medial of soleus which score was 4.0(3.0, 4.0), followed by tibialis anterior,extensor digitorum longus and lateral of soleus. There was no significant difference of the above (P=0.259).The fatty degenerative score showed difference between the mild and severe group at sartorius and adductor(P<0.05).At the calf level,the fatty degenerative score in peroneus longus, medial of soleus, lateral of soleus, medial of gastrocnemius and lateral of gastrocnemius showed difference between groups(P<0.05).The total score of fatty degenerative of Lower limb muscles was positively correlated with GM-W score(r=0.730, P<0.05). There were positive correlations between the score of fatty degenerative of the sartorius,peroneal longus,lateral of soleus,medial of gastrocnemius, lateral of gastrocnemius and the GM-W scores( r=0.630,0.845,0.569,0.591,0.640, 0.659,P<0.05).The total score of fatty degenerative of Lower limb muscles was not correlated with the level of creatine kinase(P=0.582), course of disease(P=0.601) and age of onset(P=0.850). Conclusions GNE myopathy in the thigh level within the adductor muscle and posterior muscle involvement, calf level to the tibial anterior muscle early involvement. The total score of fatty degenerative of lower limb muscles is positively correlated with GM-W score,but not correlated with the level of creatine kinase,course of disease and age of onset.

Objective To investigate muscle MRI characteristics of lower limbs in Chinese patients with dysferlinopathy. Methods Detailed clinical information of 42 patients with dysferlinopathy confirmed by Western blot or DYSF genetic test were studied retrospectively, including age, course, serum creatinine kinase (CK) and modified Gardner?Medwin and Walto score, and T1WI, STIR image. Each muscle was scored according to its fatty degeneration evaluated on T1WI (fat replacement score). The patients were divided into 3 groups:Miyoshi myopathy (MM), limb girdle muscle dystrophy 2B (LGMD 2B) and preclinical stage (asymptomatic hyperCKemia or exercise intolerance). The data including the scores of each muscle between MM and LGMD 2B were compared by ANOVA analysis and Chi square test. The relationship of fatty replacement score with course and GM?W score was analyzed by Spearman rank correlation analysis. Results Thirty nine patients underwent thigh MR scanning and 36 patients underwent leg MR scanning. At the thigh level, there is no specificity that the fatty replacement was found in both the anterior and posterior parts while the rectus femoris, sartorius and gracilis were rarely involved. At the leg level, the most severely involved muscle was the soleus, followed by gastrocnemius. It formed a sandwich?like pattern that the anterior part (anterior and posterior tibial muscle and peroneus longus muscle) and the posterior part (medial and lateral gastrocnemius) were less involved than the middle part (soleus). Of 42 patients, 14 cases were MM, and 24 were LGMD 2B. The fat replacement score of each muscle between two groups showed no significant differences (F=0.066 to 3.907,P all>0.05) except for the adductor muscle (F=5.239, P=0.028), semimembranosus (F=6.703, P=0.014) and semitendinosus (F=7.689, P=0.009). Of 4 pre?symptomatic cases, 3 showed edema of posterior part of leg on STIR, especially soleus. In all patients, the fat replacement score correlated positively with course (rs=0.732, P=0.000) and GM-W score (rs=0.485, P=0.001). Conclusions The MRI of Chinese patient with dysferlinopathy was characterized by the milder involvement of rectus femoris, sartorius and gracilis muscle in the thigh and a sandwich?like pattern in the leg, which is helpful for differential diagnosis of inflammatory Myopathy versus other types of muscular dystrophy.

Objective To investigate the clinical features and electron transfer flavoprotein dehydrogenase (ETFDH) gene mutations in 35 Chinese patients with lipid storage myopathy. Methods The clinical data of 35 cases with lipid storage myopathy confirmed by muscle biopsy were collected. The sequences of all 13 exons of ETFDH were analyzed. Results All 35 patients showed proximal weakness. Ten of them demonstrated masseter weakness and 28 of them showed weakness in neck flexion. Twenty-nine of 32 patients who were followed up showed improvement after treatment with VitB2 and CoQ10. Mutations of ETFDH were found in 30 of 35 patients,which included 8 homozygosises,20 compound heterozygosises and 2 single heterozygosises. Fourteen novel mutations were found, including 9 missense mutations ( c. 3G > C, c. 152G>A, c. 191G > A, c.349G>C, c.433G>C, c. 949C > A, c. 1454C > G, c. 1744A >T and c. 1763A>G), 1 nonsense mutation(c. 172G>T), 2 deletions(c. 1282_1283del and 1773_1774del) and 2 splice mutations (c. 405 + 1G > T and c. 1691 -3C > G). Nine of them showed c. 250G > A mutation and 6 of them showed c. 770A > G mutation. Conclusions Lipid storage myopathy is presented as proximal weakness. Multiple acyl-CoA dehydrogenase deficiency caused by mutations of ETFDH is the major cause of lipid storage disease in this group. ETFDH c. 250G > A and c. 770A > G mutations show a high frequency.

Objective To evaluate Western blot analysis in diagnosing limb-girdle muscular dystrophy type 2A (LGMD2A). Methods The clinical records including their pathological and biochemical results of 4 patients with LGMD type 2 were reviewed. Histochemical and immunohistochemical staining were performed on muscle biopsy specimens from the four patients. The expressions of dysferlin and calpain-3 in muscles were analyzed by Western biol. Results All 4 LGMD patients shared some common clinical features, such as dorsal muscular atrophy of lower limbs and remarkably elevated CK. The immunohistochemical results showed partial or complete deficiency of dysferlin staining in all 4 LGMD patients. However, Western blot revealed that the calpain-3 protein in the muscle of patient 1 was completely absent, who was later diagnosed with LGMD2A. The other 3 patients had complete dysferlin deficiency with reduced calpain-3 expression and they were confirmed to be LGMD2B. Conclusions Western blot analysis of calpain-3 and dysfcrlin can be used to differentiate LGMD2A which shows absence of calpain-3 from other LGMD types which show dysferlin deficiency. Western blot is an invaluable method in clinical diagnosis of LGMD2A.