Clinical and pathological features of patients with nemaline myopathy.

Nemaline myopathy (NM) is a rare congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. This study aimed to summarize and analyze retrospectively the clinicopathological features of 28 patients with NM. Among the 28 patients, 15 were classified as of the typical congenital type, manifested as lower- or four-limb weakness as the first symptom and slowly progressive course.

[Familial and sporadic distal myopathy with rimmed vacuoles: comparison of the clinical, pathological, laboratory test and follow-up data].

Objective: To compare the clinical, pathological, laboratory test and follow-up data between familial and sporadic patients with distal myopathy with rimmed vacuoles (DMRV) and discuss the characteristics of this disorder in Chinese population.

Methods: The clinical and pathological features, laboratory data and follow-up results of 33 sporadic and 4 familial cases of pathologically confirmed DMRV were summarized and compared retrospectively.

Results: The patients age, onset age, or disease duration showed no significant difference between sporadic and familial cases; the onset pattern and affected muscle groups were also similar, but the sporadic cases showed more frequent dysmorphic features than the familial cases.

Changes in extrafrontal integrity and cognition in frontal lobe epilepsy: a diffusion tensor imaging study.

We used diffusion tensor imaging to characterize microstructural changes and their associations with cognition in Chinese patients with frontal lobe epilepsy (FLE). We examined 18 adult patients with FLE and 20 healthy controls. Compared with normal controls, patients with FLE had increased mean diffusivity (MD) in the right frontal lobe and decreased fractional anisotropy (FA) in both thalami.

Changes in extratemporal integrity and cognition in temporal lobe epilepsy: a diffusion tensor imaging study.

Background: Diffusion tensor imaging (DTI) is a sensitive technique for studying cerebral white matter. Only a few studies have examined the association between changes in extratemporal integrity and cognition in temporal lobe epilepsy (TLE), especially in Chinese patients.

Aim: We used DTI to characterize microstructural changes and investigate their associations with cognition in patients with temporal lobe epilepsy.

[MyoD mRNA expression in skeletal muscle of patients with myotonic dystrophy].

Objective: To explore the mRNA expression of MyoD gene in the skeletal muscles of myotonic dystrophy (MD) patients.

Methods: Muscle biopsy specimens were obtained from the biceps muscles of arm of 4 MD patients and 4 healthy controls. Semi-quantitative reverse transcription polymerase chain reaction was performed to evaluate the mRNA expression of MyoD in the specimens.

[Executive function impairment in patients with temporal lobe epilepsy: neuropsychological and diffusion-tensor imaging study].

Objective: To explore the cognitive changes and the relation with the parameters of DTI in the brain areas in patients with temporal lobe epilepsy by neuropsychological test and DTI study.

Methods: Thirty-two patients with temporal lobe epilepsy, 11 males and 8 females, aged 32 +/- 12, with the education year of 8.6 +/- 1.

[Changes of blood coagulative and fibrinolytic system and function of pulmonary vascular endothelium after therapy in patients with acute pulmonary thromboembolism].

Objective: To study the changes of blood coagulative and fibrinolytic system and the function of pulmonary vascular endothelium in the course of acute pulmonary thromboembolism (PTE) and after anticoagulant or thrombolytic treatment.

Methods: Twenty patients with acute non-massive PTE, 10 males and 10 females, aged (57 +/- 11) underwent anticoagulant treatment and 17 sex-, and age-matched acute massive PTE patients underwent thrombolytic treatment. The plasma level of D-dimer (D-D), thrombomodulin (TM), protein C (PC), protein S (PS), tissue-type plasminogen activator (t-PA), plasminogen activator inhibitor-1 (PAI-1), and antithrombin-III (AT-III) activity were measured by ELISA before and after normal subjects severed as control group were included in the study.

[Relationship between polymorphisms of plasminogen activator inhibitor-1 promoter gene and pulmonary thromboembolism in Chinese Han population].

Objective: To determine the prevalence of polymorphisms in the plasminogen activator inhibitor-1 (PAI-1) promoter 4G/5G polymorphisms in Chinese Han population and to investigate whether they are associated with pulmonary thromboembolism (PTE).

Methods: Samples of peripheral venous blood were collected from 101 patients with PTE diagnosed by high probability of lung ventilation/perfusion scan and/or multi-slice CT pulmonary angiography (CTPA) as well as medical history and clinical manifestations, 67 males and 34 females, aged 48 +/- 15, and 101 age and sex-matched healthy controls from the same geographic area as controls. The genome DNA was extracted from the whole blood using potassium iodide-phenol-chloroform method.

[R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis].

Objective: Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations.

Methods: The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes in all numbers of the family.

[Study on the relationship between polymorphisms of susceptible genes in coagulation pathway related to pulmonary thromboembolism in Chinese Han population].

Objective: To determine the prevalence of beta-fibrinogen gene -455G/A, -148C/T polymorphisms in Chinese Han population and to investigate whether they were associated with pulmonary thromboembolism (PTE).

Methods: The subjects consisted of 101 patients with PTE and 101 healthy controls matched with age and sex, from the same geographic area. All patients were diagnosed by high probability of lung ventilation/perfusion scan and/or multi-slice CT pulmonary angiography as well as medical history and clinical manifestations.

[Changes of blood coagulative and fibrinolytic systems and functions of pulmonary vascular endothelium in patients with pulmonary thromboembolism].

Objective: To explore the changes of blood coagulative and fibrinolytic systems and functions of pulmonary vascular endothelium in patients with pulmonary thromboembolism (PTE).

Methods: Twenty patients with acute massive PTE, 40 patients with acute non-massive PTE and 40 control subjects without PTE were included in the study. D-Dimer (D-D), tissue-type plasminogen activator (t-PA), plasminogen activator inhibitor1 (PAI-1), plasma protein S (Ps), plasma protein C (Pc), thrombomodulin (TM), anticardiolipin antibody (ACA) and homocysteine (Hcy) were measured by the method of ELISA.

[Study of the function of coagulation, fibrinolysis and pulmonary vascular endothelium before and after experimental pulmonary thromboembolism in rabbits].

Objectives: To study the functional changes and the significance of coagulation, fibrinolysis and pulmonary vascular endothelium before and after experimental pulmonary thromboembolism in rabbits.

Methods: Rabbit pulmonary thromboembolism models by injection of auto-blood clots into femoral vein were used to observe the dynamical changes of activity of coagulation and fibrinolysis and endothelin-1 (ET-1), nitrogen monoxide (NO), von Willebrand factor (vWF) in blood.

Results: Petechial and patchy hemorrhages were observed on the surfaces of embolic lungs.

Effects of simvastain combined with omega-3 fatty acids on high sensitive C-reactive protein, lipidemia, and fibrinolysis in patients with mixed dyslipidemia.

Objective: To evaluate the effects of simvastatin combined with omega-3 fatty acids on high sensitive C-reactive protein (HsCRP), lipidemia, and fibrinolysis in coronary heart disease (CHD) and CHD risk equivalent patients with mixed dyslipidemia.

Methods: A randomized, double-blind placebo controlled and parallel group trial was conducted. Patients with CHD and CHD risk equivalents with mixed dyslipidemia were treated with 10 or 20 mg simvastatin for 6-12 weeks.

[Screening SCN4A gene for mutations with denaturing high performance liquid chromatography technology in a Chinese family with normokalemic periodic paralysis].

Objective: To study the clinical features of normokalemic periodic paralysis (normoKPP) and to confirm the relation between Met1592Val mutation and normoKPP and clarify its clinical features.

Methods: The clinical features of 14 patients in a Chinese family of normoKPP were summarized. All 24 exons of SCN4A gene were screened with denaturing high performance liquid chromatography (DHPLC) technology, and then sequence analysis was performed on those with abnormal elution peak.