Miller Fisher syndrome with early intracranial hypertension and delayed bilateral simultaneous facial nerve palsy: a case report.

Miller Fisher syndrome (MFS), a variant of Guillain-Barré syndrome, is characterized by ataxia, areflexia and ophthalmoplegia. This case report describes a 40-year old male that presented with a 3-day history of unsteady walking and numbness on both hands, and a 2-day history of seeing double images and unclear articulation. Lumbar puncture revealed an opening pressure of 260 mm H2O. Plasma serology was positive for anti-ganglioside M1-immunoglobulin M (anti-GM1-IgM) antibodies and negative for anti-ganglioside Q1b (anti-GQ1b) antibodies. The patient was diagnosed with MFS based on the clinical course and neurophysiological findings. On the 4th day of treatment with intravenous immunoglobulin (IVIG), his ataxia and unsteady walking improved, but his bilateral eyeballs were fixed, and over the next few days he developed bilateral peripheral facial paralysis. After 5 days of IVIG treatment, methylprednisolone treatment was offered and the patient's symptoms gradually improved. Early intracranial hypertension and delayed facial nerve palsy may be atypical presentations of MFS. Anti-GM1-IgM antibodies may be the causative antibodies for MFS. If the IVIG therapy does not stop the progression of the disease, the addition of corticosteroid therapy may be effective. However, the relationship between IgM type, anti-GM1 antibody and MFS remains unclear and requires further research.

Dynamic changes and associated factors of clopidogrel resistance in patients after cerebral infarction.

Stroke victims often exhibit clopidogrel resistance (CR). This prospective study was undertaken to observe changes that influence CR in the secondary prevention of cerebral infarction (CI). The study included 56 cases at high risk of stroke (HRS), 147 cases of CI and 68 control subjects. The CI and HRS groups were divided into CR and NCR (none clopidogrel resistance) subgroups using standard criteria. The NCR group was subdivided into DCR (dynamic CR) and CNCR (continuous NCR) groups. Platelet aggregation rate (PAR) was assessed at baseline and after 2 weeks treatment with clopidogrel 75 mg/day in the CI and HRS groups. In the NCR group, PAR was evaluated after 3 and 6 months of clopidogrel (75 mg/day) treatment. Baseline PAR was higher in the CI group than in the HRS or control groups (P < 0.01). The incidence of CR was 28.6 % in the CI and 13.6 % in the HRS group (P = 0.018). Diabetes mellitus, (OR 16.627; 95 % CI 4.691-58.934) and history of TIA (OR 13.711; 95 % CI 1.667-112.784) (both P < 0.05) were both associated with CR. Other independent risk factors included high total cholesterol, calcium antagonist or ACEI/ARB use. A total of 36 CR and 85 NCR cases completed 6 months follow-up. High total cholesterol was an independent risk factor for DCR (OR 0.415; 95 % CI 0.213-0.808; P = 0.01) which developed in 15 subjects at 6 months. PAR decreased by >10 % after 2 weeks in 71.4 % of patients with CR who subsequently changed drugs or received combination therapy. Dynamic CR may occur after CI. Many factors including DM\TIA\HCT\P2Y12 εC coexistence CYP2Y19 εA\combination drug, associate CR or DCR. Our results highlight the need for PAR monitoring.

The influence of the genetic and non-genetic factors on bone mineral density and osteoporotic fractures in Chinese women.

To investigate the effects of genetic and non-genetic factors on bone mineral densities (BMDs) and osteoporotic fractures. This was a cross-sectional study to investigate the relationships between 18 SNPs and non-genetic factors with BMDs and osteoporotic fractures in 1012 Chinese Han women. Five SNPs in genes GPR177, CTNNB1, MEF2C, SOX6, and TNFRSF11B were associated with L1-4 or total hip BMDs. rs11898505 in SPTBN1 gene was associated with osteoporotic fractures. Subjects carrying the largest number of risk alleles (highest 10 %) not only had lower BMD values as compared to those carrying the least number of risk alleles (lowest 10 %), they also had a higher risk of fracture [P = 0.002, OR = 2.252, 95 %CI (1.136, 4.463)]. Results from multivariate stepwise regression analysis revealed that age [P < 0.001, OR = 1.038, 95 % CI (1.018, 1.058)], number of falls in a year [P < 0.001, OR = 2.347, 95 % CI (1.459, 3.774)], the G risk allele in rs11898505 [P = 0.023, OR = 1.559, 95 % CI (1.062, 2.290)], and the L1-4 BMD [P = 0.017, OR = 0.286, 95 % CI (0.102, 0.798)] were associated with the occurrence of osteoporotic fractures. Genetic (rs11898505) and non-genetic factors (age, number of falls in a year and L1-4 BMD) could work in concert to contribute to the risk of osteoporotic fractures.

Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex ligation-dependent probe amplification.

BACKGROUND: Obtaining fetal DNA or RNA by either chorionic villus sampling (CVS) or amniocentesis is currently, the gold standard prenatal diagnosis. However, these invasive procedures carry risk of miscarriage. A reliable method for non-invasive prenatal diagnosis (NIPD) has long been sought to reduce the risk of miscarriage. METHODS: Cell-free fetal RNA was extracted from the plasma of peripheral blood from 121 women 9-20 weeks of pregnancy. Five single nucleotide polymorphism (SNP) loci in PLAC4 gene were analyzed by reverse transcriptase multiplex ligation-dependent probe amplification (RT-MLPA), followed by capillary electrophoresis. Karyotype analysis was used for confirmation of prenatal diagnosis of trisomy 21. RESULTS: Of 121 samples, 23 were diagnosed with trisomy 21, 87 with normal ploidy, nine had all five SNP loci homozygous and two had one heterozygous SNP locus. Comparing with karyotype analysis, the diagnostic sensitivity and specificity of RT-MLPA were 92% and 100%, respectively. CONCLUSIONS: RT-MLPA is a convenient and reliable method for the diagnosis of trisomy 21. We have shown that this method has good specificity, high sensitivity, and high throughput, making this technique applicable for NIPD in clinical practice.

[Effect of electroacupuncture at "Ciliao"(BL 32) on c-fos expression in the sacral segment of spinal cord in rats with detrusor hyperreflexia].

OBJECTIVE: To observe the effect of electroacupuncture (EA) at "Ciliao" (BL 32) on detrusor hyperreflexia and c-fos expression in the sacral segment of spinal cord in rats with spinal cord injury (SCI). METHODS: Thirty-seven adult female Sprague-Dawley rats were randomized into normal control (n=5), SCI model (n=16) and EA (n=16) groups. EA (20 Hz, 3 mA) was applied to bilateral BL 32 for 2 hours, once daily for 14 days. Intravesical pressure was detected by using a pressure transducer and a bioelectric amplifier. The expression of c-fos gene was detected by immunohistochemistry. RESULTS: In comparison with normal control group, the maximum intravesical pressure (MIVP) raised significantly in model group (P < 0.05), and the compliance of the bladder decreased remarkably (P < 0.05). While compared with model group, MIVP decreased significantly in SCI rats of EA group after EA intervention (P < 0.05), and the vesical compliance increased obviously (P < 0.05). In comparison with normal control group, the mean optical density (OD) value of c-fos immuno-reaction (IR) positive products increased significantly in the sacral cord after SCI in model group (P < 0.05), while compared with model group, the mean OD value of c-fos IR positive products in EA group declined evidently but still being higher than that of normal control group (P < 0.05), displaying a downregulation of c-fos expression after EA. CONCLUSION: Electroacupuncture at "Ciliao" (BL 32) can inhibit the overactivity of bladder in SCI rats and reduce the c-fos expression in the sacral cord, suggesting that the declined C-fibers' activity after EA may be one of its mechanism underlying improving detrusor hyperreflexia in spinal cord injury.

[Literature quality evaluation criteria for Clinical Practice Guideline of Evidence-based Acupuncture and Moxibustion].

In Clinical Practice Guideline of Evidence-based Acupuncture and Moxibustion, following principles and methods of evidence-based medicine, in combination with characteristics of acupuncture and moxibustion science, primary literature quality assessment criteria and corresponding scale were stipulated and were repeatedly seeked advice from experts and proved, finally, forming the assessment criteria: (1) Evaluation criteria of literature quality for RCT; (2) Evaluation criteria of literature quality for non-randomly controlled trials; (3) Evaluation criteria of literature quality for cases-study trials.

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.

BACKGROUND: Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with symptoms including nystagmus, impaired motor development, ataxia, and progressive spasticity. The proteolipid protein 1 (PLP1) gene is the only pathogenic gene of PMD. Duplication of the PLP1 gene is the most frequent gene defect, accounting for 50%-70% of PMD cases, whereas point mutations in the coding sequence or the splice sites account for 10%-25% of PMD cases. This study aimed to identify PLP1 mutations in nine unrelated Chinese patients (P1-9) with PMD, and 14 subjects from the family of patient 2 were also described. METHODS: Genomic DNA was extracted from peripheral blood samples. Gene dosage was determined using the multiplex ligation-dependent probe amplification (MLPA). All 7 exons and exon-intron boundaries of the PLP1 gene were amplified and analyzed using direct DNA sequencing. RESULTS: Of these nine patients, there were four transitional, four classical, and one connatal PMD according to their clinical and radiological presentations. PLP1 duplications were identified in patients 1-7 with PMD. Their mothers were PLP1 duplications carriers as well. Both duplication carriers and normal genotypes of PLP1 were identified in the family members of patient 2. A c.517C > T (p. P173S) hemizygous missense mutation in exon 4 was found in patient 8 with PMD, and his mother was shown to be a heterozygote of this mutation. CONCLUSIONS: We identified seven genomic duplications and one missense mutation (p. P173S) of the PLP1 gene in eight Chinese patients with PMD. This is the report about PLP1 mutations in PMD patients from the mainland of China.

[Evaluation of literature quality of acupuncture for treatment of herpes zoster and approach to the laws of treatment].

OBJECTIVE: To assess the quality of literature of clinical studies on acupuncture in treatment of herpes zoster. METHODS: The literatures between 1994-2006 were searched by means of electronic retrieval. Type and methodology, general condition, diagnosis of diseases and enrolled and excluded criteria, assessment of sample content, treatment condition, criteria for assessment of therapeutic effects, following-up, etc. in clinical studies are evaluated according to principles and methods of clinical epidemiology and evidence-based medicine. RESULTS: Of the 399 literatures enrolled, only 8 were authentic randomized controlled trials (RCTs), 20 quasi-randomized controlled trials, 66 non-randomized concurrent controlled trials and 277 narrative studies, 70 had clear diagnostic criteria, 16 mentioned enrolled or excluded criteria, 287 had clear criteria for therapeutic effects, 107 reported follow-up, 2 had the description of health economical index, 9 reported adverse reaction. CONCLUSION: At present, correct randomization, concealment, blinding and placebo-control, and the RCTs with generally accepted criteria for assessment of diagnosis and therapeutic effects, safety evaluation and rational design of follow-up are needed. It is indicated by preliminary study of the literatures that blood-letting puncture and cupping at Ashi points are main methods for treatment of herpes zoster.