Type IIB focal cortical dysplasia with balloon cells in medial temporal lobe epilepsy: Clinical, neuroimaging, and histopathological findings.

PURPOSE: Type IIB focal cortical dysplasia (FCD) is an important cause of drug-resistant epilepsy. However, balloon cells located in the medial temporal lobe have been seldom reported. We aimed to discuss the clinical and pathological features of Type IIB FCD with balloon cells in the medial temporal lobe (MTLE-FCDIIB) and the differential diagnosis with other types of mesial temporal lobe epilepsy. METHODS: Three MTLE-FCDIIB cases were enrolled from Peking Union Medical College Hospital. Clinical and neuroimaging data were analyzed and histology features observed on hematoxylin-eosin (H&E) staining and immunochemical staining, including vimentin, nestin, S-100, CD34, neuronal nuclei antigen (Neun), glial fibrillary acidic protein (GFAP), neurofilament heavy chain (SMI32), were discussed. RESULTS: All cases involved drug-resistant epilepsy patients with childhood onset. The semiology of the epileptic seizure was a highly frequent partial seizure with or without generalized tonic-clonic seizures. Magnetic resonance imaging showed hyper-intensity in the medial temporal lobe without atrophy, different from mesial temporal sclerosis. Histological examination indicated the presence of balloon cells in the white matter of the para-hippocampal gyrus, subiculum, and cornu ammonis with cortical disorganization, and SMI32 positive dysmorphic neurons in the gray matter. Balloon cells were immunohistochemically stained with vimentin and nestin. Granular cell dispersion and pyramidal cell loss were not found. CONCLUSIONS: The presence of balloon cells in the medial temporal lobe is observed in a rare subgroup of FCD, named MTLE-FCDIIB. It has distinct clinical manifestations, neuroimaging features, pathological changes, and prognosis, which should be differentiated from mesial temporal lobe sclerosis and mesial temporal lobe tumors. Our findings enable more accurate diagnosis of mesial temporal lobe epilepsy.

Postmortem Histopathologic Analysis of Neurosyphilis: A Report of 3 Cases With Clinicopathologic Correlations.

Neurosyphilis occurs in the late stage of systemic syphilis infection; early diagnosis and treatment are crucial to the prognosis. We review 3 autopsy cases with different subtypes of neurosyphilis, that is cases with meningovascular, general paresis, and a combination of the 2, respectively. We investigated the gross morphology and leptomeninges, vessels, cerebral cortex, white matter, brainstem, cerebellum, olfactory bulb and spinal cord microscopically. We found that meningovascular inflammation exists in both early and late phases of neurosyphilis, not only in the meningovascular subtype. Vertebrobasilar artery involvement is common and infarcts of the areas perfused by these arteries in young patient highly suggests neurosyphilis. Damage to the cortical architecture and neuropil is the main mechanism of dementia in general paresis and temporal lobe may not firstly be involved as many other diseases with dementia. Early involvement of olfactory bulbs may help in the early diagnosis of the disease. Our findings indicate that many specific features may help in clinical practice and that further research is needed to clarify the mechanisms.

[Diagnosis of Muscular Dystrophy Using Western Blot with Micro-sample of Muscle].

OBJECTIVE: To diagnose muscular dystrophy using Western blot (WB) by improving the method of the protein extraction. METHOD: Firstly,we compared the effect of different sample buffer solutions and processing Methods on the extraction of muscle protein in rats,then selected the appropriate extracting method and the process of the muscular protein. RESULTS: We put the selected sample buffer into the micro-sample,then mixed. The concentration of the extracting protein was much more,and the loss during the process was much less. We extracted enough protein in 62 cases. The protein bands were showed clearly by WB,and the abnormal protein bands were shown in some patients. Compared with the Results of immunohistochemical staining detected the severe abnormal expressions of Dys-R,Dys-C,and Dys-N in the specimens,we did not detect the corresponding target band in WB. We detected the target protein band of the specimens were abnormal position,light or normal staining in WB,while Dys were mildly expressed in immunohistochemical staining. CONCLUSIONS: The improved protein extraction method can save the muscle tissue,and the protein bands can be used for diagnosing the muscular dystrophy. For clinically suspected patients with dystrophinopathy,if normal or mild deficiency is shown by immunohistochemistry,WB should be applied to detect the dystrophin protein band.

Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family.

The mutations in the presenilin 2 (PSEN2) gene as causes of early-onset familial Alzheimer's disease (AD) have never been reported in Asia. We conducted a phenotype and pedigree study by performing neuropathological examination and target region sequencing in a family of 3 generations. Six members in this family developed dementia in their fifth decade and died in their sixth decade. The proband was diagnosed clinically with AD, which was confirmed by an autopsy. Target region sequencing showed a novel missense mutation at codon 141 (N141Y) of the PSEN2 gene that predicts an Asparagine-to-Tyrosine substitution in the affected individuals. The result was validated by Sanger sequencing in 7 family members (2 affected and 5 unaffected). The mutation was absent in the 5 clinically unaffected relatives and 188 control subjects. No influence of the APOE genotype was observed. We are the first to demonstrate a novel PSEN2 N141Y mutation in a Chinese Han family with early-onset AD.

[The clinical and muscular pathological study of dermatomyositis with perifascicular atrophy changes].

OBJECTIVE: To investigate the clinical and pathological characteristics of dermatomyositis with muscular perifascicular atrophy (PFA). METHODS: A series of 104 consecutive patients clinically and pathologically diagnosed as dermatomyositis by muscle biopsy in our laboratory from December, 2003 to August, 2011, were enrolled in this study. Muscle biopsy of all the enrolled patients had shown PFA of muscle fibers. RESULTS: Among the 104 patients, 34 were males and 70 were females with a mean age of 45 years old. Among them, 8 cases had normal electromyogram; 42 had normal serum creatine kinase level; 11 were diagnosed as carcinoma; 75 were found to be combined with interstitial lung disease (ILD). Based on morphologic changes of muscle biopsy, they were divided into pure PFA group with 54 cases and PFA plus focal damage group with 50 cases. Compared with the pure PFA group, there was prominent mononuclear cell infiltration into perimysial intermediate sized vessels and membrane attack complement (MAC) deposition in the intramuscular capillaries in the PFA plus group. Skin biopsy had been taken in 12 cases together with muscle biopsy and had shown the "border effect" of both PFA and interface dermatitis in muscle and skin. CONCLUSIONS: Our study suggests that chronic immune vascular damage and insufficiency in dermatomyositis may cause ischemia and focal myofiber damage in "watershed" regions. The incidence of ILD in our dermatomyositis patients with PFA is high.

[Clinical and pathological features of glycogen storage disease type III].

OBJECTIVES: To summarize the clinical and pathological features of glycogen storage disease (GSD) type III. METHODS: The clinical data of 12 GSD type III, 8 males and 4 females, aged 2 - 27, were collected. The biopsy specimens of quadriceps muscle of thigh underwent HE and histochemical staining and light and electron microscopy. RESULTS: The main clinical feature were hepatomegaly and hypoglycemic symptoms, slow growth, and microsome since childhood, while myopathy was mild. Laboratory findings included low plasma glucose (n = 12), high liver transaminases (n = 12), increased CK (n = 11), mild metabolic acidosis (n = 11), hyperlipemia (n = 9), elevation of blood lactate (n = 5), high uric acid (n = 1), and decrease of serum carnitine level (n = 1). One patient had echographic evidence of cardiomyopathy. 11 patients were postprandial adrenalin stimulation test positive. Raw corn starch therapy was used on all patients and showed effective on liver manifestations. Muscle biopsy showed vacuolar myopathy, PAS positive glycogen granules in muscle fibers, small foci of intense ACP reactivity, and deposit of lipid droplets. CONCLUSION: GSD type III exhibits a clinical heterogeneity. Besides hepatic symptoms, myopathy and cardiomyopathy should be addressed adequately. The degree of pathological change of muscles is not significantly related to the degree of functional impairment, duration of disease, and level of CK.

[Primary agiitis of central nervous system].

The common clinical manifestations of the primary agiitis of the central nervous system include burst of headache, dementia, change of aptitude, paralysis of cranial nerves, and recurrent focal depletion of the neural function. Lptomeningeal and brain biopsy are still the gold criteria for diagnosis. The prognosis may be improved after cortin and immunosuppressant therapy.

Evaluation of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with magnetic resonance imaging and proton magnetic resonance spectroscopy.

OBJECTIVE: To study the characteristics of spectra on proton magnetic resonance spectroscopy (1H-MRS) and its value in patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). METHODS: Seven clinically diagnosed patients with MELAS underwent magnetic resonance imaging (MRI) and 1H-MRS examinations. The 1H-MRS techniques, characteristics of the spectra, and its correlation with the laboratory tests were analyzed. RESULTS: Cerebral abnormalities were revealed in all 7 patients on conventional MR images, and most abnormal signals were observed in bilateral occipital, parietal, and temporal lobes. We found 4 cases with basal ganglia involvement, 2 cases with mild frontal lobe lesions, and 1 case with involvement of lateral cerebral peduncles and thalami. Additionally, 1 patient was involved with left insular lobe. Spectra from prominent lesions in brain parenchyma showed lactate doublet peak in 6 patients, 3 of whom were also noted lactate peak in ventricular cerebrospinal fluid (CSF). CONCLUSION: 1H-MRS may provide more direct information about the metabolism changes, which aids to affirm the diagnosis, and may replace the conventional invasive method of quantifying lactate in CSF.

[Sequence analysis of NS1 gene of some H9N2 subtype influenza viruses isolated from chickens in China].

The nonstructural protein (NS1) genes of eight H9N2 subtype influenza virus strains isolated from diseased chickens on different farms during 1996 - 2001 were amplified and sequenced. The nucleotide and deduced amino acid sequences of NS1 genes of these isolates were compared. The results showed that the homologies of nucleotide and amino acid of the isolates were 96.5% - 99.5% and 94.5 - 98.6%, respectively. These indicated that NS1 genes of H9N2 influenza viruses isolated in China were well conserved. Comparison of the amino acid sequences of NS1 genes of these isolates with those of H9N2 viruses isolated in Hong Kong of China, Korea and Pakistan demonstrated that nonstructural (NS1) proteins of the eight strains had a deletion of 13 amino acid residues at the carboxy terminus. Phylogenetic analyses showed NS1 genes of these isolates belonged to the same lineage and derived from an early chicken H9 virus isolated in 1994. The NS1 genes of the eight isolates belong to different sublineages from those of the H9N2 viruses isolated in Hong Kong, Korea and Pakistan, suggesting that the geographical distribution plays a significant role in the evolution of the H9N2 subtype influenza viruses.

[Cloning, expression and purification of neural specific HuD cDNA].

OBJECTIVE: To prokaryoticly express and purify HuD protein and its RNA recognition motifs. METHODS: HuD protein was prokaryoticly expressed and purified by molecular cloning technology. Its biologic activity was testified by Western Blot. RESULTS: Purified HuD protein and its RNA recognized motifs were observed. CONCLUSIONS: The result might aid for basic research and clinical application.