Congenital myopathies are a group of genetic muscle disorders with a relatively non-progressive clinical course,characterized by weakness and hypotonia of varying severity,morphologically recognized by specific structural abnormalities within the myofibers.The diagnosis of congenital myopathies mainly based on characterized clinical manifestation and histological features on muscle biopsy.The genetic basis of many different forms of the congenital myopathies has been identified,while there are still more genes to be discovered.Until now,the main management of congenital myopathies was to alleviate complications arising from weakness of various muscle groups.

SUMMARY Mercury intoxication is a rare cause of severe hypertension. A case of mercury intoxication presented with severe hypertension and erythromelalgia was reported. A 10-year-and-5-month-old girl presented with recurrent rash and painful hands for 2 months, with seizure attack and episodic loss of consciousness for one hand half months. The girl was found to have red painful hands, a blood pressure 170/120 mm Hg(1 mm Hg=0.133 kPa), tachycardia and hypokalemia (2.83-3.25 mmol/L, reference value 3.5-5.5 mmol/L). An extensive investigation ensued. Elevated renin-angiotensin and aldosterone were demonstrated in plasma. Cranial MRI T2 weighed images showed widespread white matter signal abnormalities, which particularly involved parietal, occipital and frontal lobes. With hypertension controlled, white matter signal abnormalities weakened. Other symptoms included insomnia, nausea and paroxysmal abdominal pain. The girl was found to have a raised concentration of mercury in urine (0.171 mg/L, reference value

Objective : To evaluate the effect of low dose naloxone on remote seizure susceptibility after repeated febrile seizures(FS) in developing age. Methods: Warm water induced rat FS model was developed in this study.Forty nine SD rats were randomly divided into two groups: normal control group( n =10) and hyperthermic seizure group( n =39).The latter was further divided into FS control group( n =13) and naloxone treated group( n =26). The dose of naloxone was different in the two naloxone treated groups(13/each group). One group dose was 1 mg/kg, and the other 2 mg/kg. Each rat of hyperthermic seizure groups was induced to have 7 febrile seizures at the interval of 1 day. The rats were weighed and injected intraperitoneally with naloxone once the FS occurred in naloxone treated group, while the rats of other groups were injected with 0.9% sodium chloride. After the seventh stimulation, all rats were left un stimulated for 2 months, then re stimulated. Re stimulated seizureincidence rate, seizure duration and seizure grade in different groups were observed and compared with each other. Hippocampal mossy fiber sprouting was detected by Timm stain. Results: In naloxone treated group, the rats'seizure duration and seizure grade [(5.66?2.78) min,(2.97? 1.18)] significantly decreased ( t =5.035, P

Objective: To study the alteration of hydrogen sulfide (H_2S)/ cystathionine-?-synthase (CBS) system during recurrent febrile seizures (FS) in the hippocampus of developing rats. Methods: The rats were randomly divided into control group (n=8) and hyperthermia-treated group (n=22). Which was subdivided into FS group (n=8) and H group(no seizure occurred, n=9) according to whether seizures occurred. The plasma level of H_2S was detected by the spectrophotometer. The expression levels of CBS gene and protein were examined by in situ hybridization and immunohistochemistry respectively. Results: The plasma levels of H_2S were increased significantly in FS group compared with those of control group or H group. The expression levels of CBS gene and protein were enhanced in FS group compared with those of control group or H group. Conclusion: The expression levels of H_2S/ CBS system were up-regulated during recurrent FS.

Objective To study the clinical characteristics,muscle pathological features,diagnosis and prognosis of TK2-related mitochondrial DNA depletion syndrome(MDS).Methods Clinical and laboratory data of 2 cases of TK2-related myopathic MDS were reported.And data of previously reported 58 TK2-related MDS cases were reviewed.Results Total 60 patients consisted of 35 male and 25 female.The age of onset ranged from the birth to the age of 74 years old,and 54 of the patients were attacked at the age younger than 3 years old.Muscle weakness and hypotonia were detected in all patients,with 40 patients(including the newly diagnosed 2 cases) manifested as pure myopathic form,and 20 patients with other multiple organs involvement.Serum creatine kinase was mildly increased (211-6 500 IU/L) in 53 patients.Elevated serum lactic acid level (2.3-12.0 mmol/L)was observed in 24 patients.Muscle biopsy was available from 55 patients,and ragged red fibers and/or cytochrome C oxidase (COX)-negative fibers were detected in 48 out of them.Nine out of 11 patients received electronic microscope study showed proliferation of abnormal mitochondria.Respiratory chain enzymatic activities in skeletal muscle were reduced in 31 out of 33 patients.Marked mtDNA content reduction was observed in 36 out of 41 patients (4％-25％ of age-and tissue-matched controls).A total of 42 TK2 mutations were found in 60 patients,including 2 novel mutations c.923A ＞ G and c.619-2A ＞ T in this study.Conclusions The most common clinical manifestations of TK2-related MDS are severely,rapidly progressing myopathy with infantile or early childhood onset.As the detection rate of characteristic pathologic features in muscle is high,muscle biopsy is important for the diagnosis of TK2-related MDS.

Objective: To explore the clinical features, diagnosis, treatment and the prognosis of Farber disease by case report and literature review. Method: The clinical information of a case with farber′s disease diagnosed in October 2015 at Peking University First Hospital was collected and analyzed, including clinical manifestation, electrophysiology, magnetic resonance imaging, pathology, treatments and prognosis.ASAH1 gene mutational analysis was conducted in the patient and her parents.By using "Farber′s disease, ASAH1" as keywords, literature was searched from Pubmed, CHKD and HGMD database from January 1951 to January 2016. Result: The girl, 2 years 2 months old, was sent to our hospital in October 2015, with complains of "joint swelling for 17 months, development regress of intelligence and movement for 11 months, intermittent seizures for 2 months" .The clinical manifestation of the patient was characterized by painful and deformed joints, subcutaneous nodules, progressive hoarseness, and the progressive neurological system deterioration.Joints swelling and deformity behave as the first symptoms.A series of electroencephalogram showed slow background and spike wave.Visual evoked potential was significantly abnormal.Brain magnetic resonance imaging (MRI) showed hypomyelination and progressive diffuse brain atrophy.Histology of subcutaneous nodule showed proliferation of the connective tissue with hyalinization, cholesterol crystal like changes, and a large number of foamy cell infiltration.Compound heterozygous mutations of ASAH1 gene, c. 304_305 ins A (p.T102Nfs14) and c. 314T>C (p.L105p), were found in the patient, and the former is inherited from her mother, the latter from her father.Antiepileptic treatment and other symptomatic treatments were delivered to the patient, but the effectiveness was poor.One reference from China hownet and 35 references from Pubmed have reported a total of 26 cases.Twenty out of 26 patients (77%) had the onset under 1 year of age.By region, there were 12 patients (12/26, 46%) from India, and the others around world.Among these 12 indian patients, 10 lack of complete clinical data.Among the rest 16 patients, 4 patients′ parents were consanguineous; 8 patients with the main clinical manifestation of painful and deformed joints, subcutaneous nodules, and hoarse cry; 4 patients with hepatic failure and impaired spleen; 5 patients with rapid neurological deterioration; 1 patient with bone destruction; 7 patients under liver and skin biopsies, pathologically showing a large number of foam cells and "Farber bodies" . There are 33 genetic mutations, and 45% (15/33) mutations are concentrated in ASAH1 exon 6-10. Conclusion Farber disease is a rare autosomal recessive disease caused by deficiency of lysosomal acid ceramidase.Histopathology of granulomatous tissue plays an important role in the early diagnosis.

Objective: To explore the injury pattern and features of peripheral nerve in congenital muscular dystrophy patients caused by LAMA2 gene mutation. Method: Seventeen patients genetically or molecular pathologically diagnosed as LAMA2-related congenital muscular dystrophy were recruited in Peking University First Hospital between 2002 and 2015. All the patients received nerve conduction velocity (NCV) and needle electromyography tests. Clinical and laboratory examination data of the patients was retrospectively analyzed. The correlation between the NCV and disease course was determined by Pearson correlation analysis. Additionally, one patient underwent a sural nerve biopsy. Result: Among these 17 identified patients (13 male and 4 female), all of them were diagnosed as congenital muscular dystrophy, and all of them underwent electrophysiological examination at ages between 1 month to 6 years. Electromyogram indicated seventeen patients of myogenic damage, of whom 10 cases were complicated with reduced NCV. Twenty-six of 95 analyzed nerves showed NCV slower than the normal average of contemporary in 17%-47%. Correlation analysis between NCV and the disease course indicated that NCV of median nerves, ulnar nerves, tibial nerves and common peroneal nerves were negatively associated with the disease course (r=-0.737, -0.771, -0.540 and -0.682, respectively; all P<0.05). Sural nerve biopsy revealed peripheral neuropathy changes of myelin. Conclusion There is peripheral nerve injury in LAMA2-related muscular dystrophy patients. It mainly manifests as demyelinating lesions. Moreover, the NCV of peripheral nerve will decrease with the increase of the course of the disease.

OBJECTIVETo analyze and characterize the clinical, molecular pathological and genetic features of a Chinese family with congenital muscular dystrophy type 1A (MDC1A).

METHODSClinical data of the proband and her family members were collected. Immunohistochemistry staining was performed on muscular biopsy tissues with anti-merosin, alpha-dystroglycan, beta-dystroglycan and dystrophin antibodies. Genomic DNAs from the patient and her parents were extracted using standard procedures from the peripheral blood leukocytes. PCR and DNA direct sequencing were employed to analyze all of the 65 exons of the LAMA2 gene to determine the gene mutation, and the relationships between genotype and phenotype were analyzed.

RESULTSThe proband presented with delayed motor development and a myopathic face. Her midrange elevated serum creatine kinase (CK) levels and white matter signal intensity changes are consistent with MDC1A, and was clinically diagnosed as MDC1A. The immunohistochemistry analysis for the proband exhibited complete loss of merosin staining. Further test with PCR detected a homozygous mutation of c.817A>T in exon 5, while her parents were heterozygotes for the mutation.

CONCLUSIONThe authors have defined the clinical manifestation of the Chinese family with MDC1A. The proband carried a homozygous nonsense mutation c.817A>T, and her parents were heterozygous carriers, consistent with autosomal recessive inheritance.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child, Preschool ; Creatine Kinase ; blood ; Female ; Humans ; Laminin ; genetics ; Male ; Molecular Sequence Data ; Motor Activity ; Muscular Dystrophies ; congenital ; genetics ; pathology ; physiopathology ; Pedigree ; Point Mutation

OBJECTIVETo summarize the clinical features of those Duchenne and Becker muscular dystrophy (DMD and BMD) patients who are complicated with epilepsy, and try to analyze the genotype- phenotype correlation.

METHODBy a retrospective analysis of 307 patients with DMD and BMD who attended Peking University First Hospital from February 2006 to September 2014,7 patients complicated with epilepsy were identified and their clinical data were collected. The possible mechanism of epilepsy in DMD and BMD patients was proposed after analyzing the genotype-phenotype correlation.

RESULT(1) Among 307 DMD and BMD patients, 7 cases had epilepsy, the prevalence was 2. 28%. (2) The age of onset of epilepsy ranged from 8 months to 11 years. Focal seizure was the most common seizure type (6 cases) , while other seizure types were also involved, such as generalized tonic-clonic seizure. As to epilepsy syndromes, 1 boy was diagnosed as benign childhood epilepsy with centrotemporal spikes (BECT). Six patients were treated with 1 or 2 types of antiepileptic drugs and seizures were controlled well. On follow-up, 6 of the 7 children had normal mental development, while the remaining 1 patient was diagnosed as mild mental retardation. (3) DMD gene mutations of all 7 patients were analyzed. Exons deletions were found in 6 cases while point mutation was found in 1 case.

CONCLUSIONThe prevalence of epilepsy in DMD and BMD patients was higher than the prevalence in normal population. The age of onset of epilepsy varies, and focal seizure may be the most common seizure type. Some patients may also present as some kind of epilepsy syndrome, such as BECT. In most patients, seizures can be controlled well by 1 or 2 types of antiepiletic drugs. No clear correlation was found between genotype and phenotype in DMD and BMD patients who were complicated with epilepsy, probably due to limited number of cases.

Anticonvulsants ; therapeutic use ; Child ; Epilepsy ; complications ; drug therapy ; epidemiology ; Exons ; Genotype ; Humans ; Intellectual Disability ; etiology ; Male ; Muscular Dystrophy, Duchenne ; complications ; genetics ; Mutation ; Phenotype ; Prevalence ; Retrospective Studies ; Seizures ; Sequence Deletion

Teaching competition is an effective way for college and university teachers to improve their teaching skills. Based on the teaching practice and experience in medical parasitology,this paper discusses several key issues in teaching competition including topics,teaching designs and teaching methods. It provides references for the teachers in department of parasitology of universities and colleges to improve the quality of classroom teaching.