Objective To established a diagnostic methods to idenfity Niemann-Pick disease type C (NPC) in China. Methods Two patients aged 5 and 20 years respectively who presented progressive neurologic regression and splenomegaly were subjected to filipin staining of cultured skin fibroblasts and genetic analyses of NPC1 gene. Results Although there were differences in onset ages and clinical presentations, filipin staining of the cultured skin fibroblasts confirmed the clinical diagnosis of NPC, showing an intense punctate pattern of fluorescence concentrating around the nuclei, consistent with the accumulation of unesterified cholesterol in NPC cells. Genetic sequence analysis further verified the results of filipin staining. The case 1 was compound heterozygous for M1142T(3425T＞C),R1186H(3557T＞C)and case 2 for Q88H(264G＞T),469_470insGT.The latter 2 mutations were novel, and the possibility of polymorphisms was not supposed by analyzing 134 DNA samples obtained form normal controls. Conclusions Filipin stainning of the cultured skin fibroblasts is a reliable method to clinically diagnose NPC with a sensitivity. Genetic diagnose should be performed where genetic analysis is allowed.

In order to better understand the clinical manifestation of systemic lupus erythematosus (SLE) with intracranial hypertension syndrome (IHS), we analyzed the clinical features and treatment of a typical SLE patient with IHS. SLE is one of the most unpredictable autoimmune diseases involving multiple organ systems that is defined clinically and associated with antibodies directed against cell nuclei. IHS is an uncommon manifestation of neuropsychiatric SLE (NPSLE) and is characterized by an elevated intracranial pressure, papilledema, and headache with occasional abducens nerve paresis, absence of a space-occupying lesion or ventricular enlargement, and normal cerebrospinal fluid chemical and hematological constituents. IHS has been reported in a few sporadic cases in patients with SLE worldwide, but rarely has been reported in China. In this study, a 34-year-old female SLE patient with IHS was reported and pertinent literature reviewed. The clinical presentation, image logical features, and investigatory findings were discussed.
Diagnosis, Differential ; Intracranial Hypertension/diagnosis ; Intracranial Hypertension/*etiology ; Lupus Erythematosus, Systemic/*complications ; Lupus Erythematosus, Systemic/diagnosis

Myotonic dystrophy is a group of inherited myopathy characterized by typical clinical symptoms of myotonia and muscular weakness.Due to the great difference in individual clinical manifestations and severity of symptoms,it is often difficult to make early clinical diagnosis by clinicians.Therefore,standardized diagnostic awareness and pathway should be attached great importance.To some extent,combining the patient's extra muscular symptoms can help clinicians to reduce the rate of missed diagnosis.With the development of muscle biopsy and the improvement of gene technology,there is no problem with the diagnosis,through electromyography,pathology and gene examination.At present,symptomatic treatment and symptom management are still the main treatments in the world.

Cyclin dependent kinases (cdks) play an important role in the pathogenesis of multiple neurodegenerative diseases. To explore the possibility of cdks-related gene therapy for neurodegenerative diseases, we packed recombinant adeno-associated virus (rAAV) encoding cdc2-siRNA. The expressing plasmid pAAV-MCS-EGFP-U6-odc2-siRNA was constructed by using molecular biological techniques. The rAAV encoding cdc2-siRNA (rAAV-EGFP-U6-cdc2-siRNA) was packed by calcium phosphate mediated co-transfection of the plasmid pAAV-MCS-EGFP-U6-cdc2-siRNA, p-RC and p-Helper into AAV-293 cells. DNA sequencing proved the successful construction of U6-cdc2-siRNA in pAAV-MCS-EGFP. Seventy-two h after packaging, the expression of EGFP could be detected in AAV-293 cells. Western blotting revealed that cdc2 gene expression in AAV-293 cells was down-regulated markedly after transfection with rAAV-EGFP-U6-cdc2-siRNA, which evidenced the satisfactory silencing effect of this virus. It was concluded that the packaging of rAAV encoding cdc2-siRNA was successful, rAAV encoding cdc2-siRNA could silence cdc2 gene effectively, which might offer a novel means for the treatment of neurodegenerative diseases.

Granulomatous disorder is a group of chronic proliferative inflammatory diseases.Both infectious and noninfectious factors can lead to granuloma formation.Its diagnosis and treatment should be dependent on clinical manifestations and pathological results of patients.The existence of systematic diseases and immune system abnormalities is the key factor in determining final therapy in this condition.It is a rare clinical case of granulomatosis with simple invasion of one single peripheral nerve,which is challenging in daily clinical work.Here we present a case of granulomatous inflammation involving the right tibial nerve only,and analyze the difficulties and key points in the diagnosis and treatment of these patients with literature review.

In order to better understand the clinical manifestation of systemic lupus erythematosus (SLE) with intracranial hypertension syndrome (IHS),we analyzed the clinical features and treatment of a typical SLE patient with IHS.SLE is one of the most unpredictable autoimmune diseases in-volving multiple organ systems that is defined clinically and associated with antibodies directed against cell nuclei.IHS is an uncommon manifestation of neuropsychiatric SLE (NPSLE) and is characterized by an elevated intracranial pressure,papilledema,and headache with occasional ab-ducens nerve paresis,absence of a space-occupying lesion or ventricular enlargement,and normal cerebrospinal fluid chemical and hematological constituents.IHS has been reported in a few sporadic cases in patients with SLE worldwide,but rarely has been reported in China.In this study,a 34-year-old female SLE patient with IHS was.reported and pertinent literature reviewed.The clinical presentation,image logical features,and investigatory findings were discussed.