The precarious use of charm needles susuk in treatment of low back pain by traditional medicine practitioners and its possible risk to patient safety.

A 68-year-old female presented with a 1-month history of lower back pain with right-sided radiculopathy and numbness. She was diagnosed with lumbar spondylosis and treated conservatively with analgesia and physiotherapy. Imaging showed multiple susuk, a metal alloy, in the lower back region and other regions of the body. The patient had undergone traditional medicine consultation 10 years earlier when the susuk was inserted in the lower back as talisman. The practice of the insertion of susuk is popular in rural East Malaysia and Indonesia. These foreign bodies act as possible causes of chronic inflammation and granuloma formation. In addition, the localised heighten peril upon imaging. This report suggests that the insertion of multiple susuk as talisman carries risk to safety of patients when imaging, and this practice complicates the management of musculoskeletal disorders.

Complementary therapies in hemifacial spasm and comparison with other movement disorders.

OBJECTIVES: We determined the prevalence, range and factors influencing the use of complementary therapy among hemifacial spasm patients and compared the patterns of use of complementary therapies across different movement disorders in a systematic pooled analysis of published literature. METHODS: A structured questionnaire was administered to 96 hemifacial spasm patients evaluating frequency of complementary therapy use, and factors influencing patients' decision to seek these therapies. We also performed a PubMed search of epidemiology studies on use of complementary therapies in movement disorders. RESULTS: Fifty-one per cent of patients had tried complementary therapies, of which 47% reported some perceived benefit and 4.1% informed their doctor. Acupuncture (71.4%) and facial massage (17.6%) were most commonly used. Complementary therapy use was associated with greater HFS severity. The mean cost of treatment was about $78 per month. We identified eight articles on use of complementary therapies in movement disorders; Parkinson's disease (5), Tourette syndrome (2) and dystonia (1). Twenty-five to 88% of patient had tried complementary therapies, of which 32-70% reported some benefit. Trials of acupuncture (2-63%) and massage (7-38%) were reported across the spectrum of movement disorders studied. Mean cost of complementary therapies varied from 43 to 102 USD per month. CONCLUSION: Complementary therapies are used by over 50% of HFS patients, and the use is correlated with severity of disease. Despite differences in race, culture and population demographics, acupuncture and massage are used by patients across the spectrum of movement disorders.

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.

The study of de novo point mutations (new germline mutations arising from the gametes of the parents) remained largely static until the arrival of next-generation sequencing technologies, which made both whole-exome sequencing (WES) and whole-genome sequencing (WGS) feasible in practical terms. Single nucleotide polymorphism genotyping arrays have been used to identify de novo copy-number variants in a number of common neurodevelopmental conditions such as schizophrenia and autism. By contrast, as point mutations and microlesions occurring de novo are refractory to analysis by these microarray-based methods, little was known about either their frequency or impact upon neurodevelopmental disease, until the advent of WES. De novo point mutations have recently been implicated in schizophrenia, autism and mental retardation through the WES of case-parent trios. Taken together, these findings strengthen the hypothesis that the occurrence of de novo mutations could account for the high prevalence of such diseases that are associated with a marked reduction in fecundity. De novo point mutations are also known to be responsible for many sporadic cases of rare dominant mendelian disorders such as Kabuki syndrome, Schinzel-Giedion syndrome and Bohring-Opitz syndrome. These disorders share a common feature in that they are all characterized by intellectual disability. In summary, recent WES studies of neurodevelopmental and neuropsychiatric disease have provided new insights into the role of de novo mutations in these disorders. Our knowledge of de novo mutations is likely to be further accelerated by WGS. However, the collection of case-parent trios will be a prerequisite for such studies. This review aims to discuss recent developments in the study of de novo mutations made possible by technological advances in DNA sequencing.

Exploring the relationship between caffeine intake and essential tremor.

BACKGROUND: It has been suggested that environmental factors may be associated with essential tremor (ET). This study was carried out to evaluate the association of caffeine intake with ET. METHOD: In a case control study, patients diagnosed with ET and healthy controls underwent a standardized questionnaire interview to evaluate the exposure to coffee and tea intake. A multivariate logistic regression analysis was carried out to evaluate the association of caffeine intake and other environmental factors with risk of ET. RESULTS: 179 subjects including 79 ET patients and 100 controls matched for age, gender and ethnicity were included in the analysis. Univariate analysis revealed that caffeine consumption in ET patients was higher than control group (median and 90th percentile range: 2300 (0, 9000) mg-years versus 1500 (0, 6090) mg-years, p=0.01). However, the multivariate logistic regression analysis demonstrated that caffeine was no longer a significant factor associated with ET (p=0.119). There was no significant correlation between amount of caffeine intake and disease duration (Spearman's r=0.194; p=0.202) or total tremor score (Spearman's r=0.045; p=0.771) in ET patients. CONCLUSION: Caffeine consumption was not associated with risk of ET in our study population. Further studies are needed to investigate the significance of gene-environmental interaction in ET.

Exploring an interaction of adenosine A2A receptor variability with coffee and tea intake in Parkinson's disease.

Caffeine is an adenosine receptor A1 and A2A receptor antagonist and a putative functional genetic variant of the A2A receptor (2592C > Tins) mediates caffeine-induced anxiety. Here we investigated the potential interaction of this A2A genetic variant with the quantity of coffee and tea intake and their relationship with the risk of PD. A total of 441 subjects consisting of 222 PD and 219 race, gender and age matched controls were included. A multivariate analysis of the variables including the 2592C > Tins A2A genotypes, age of onset, gender, and the quantity of tea and coffee intake, interaction of the A2A genotypes with coffee intake, interaction of A2A genotypes with tea intake demonstrated the quantity of coffee intake to be significantly associated with PD (P < 0.0005, OR = 0.922, 95% CI: 0.881, 0.964). However, there was no significant interaction of the A2A genotypes with the quantity of coffee and tea intake in modulating the risk of PD. The dose dependent protective effect of coffee intake in PD was independent of the 2592C > Tins A2A genotype suggesting that the pharmacogenetic action of caffeine in PD may be mediated differently from other caffeine-induced neurologic syndromes.

Dose-dependent protective effect of coffee, tea, and smoking in Parkinson's disease: a study in ethnic Chinese.

INTRODUCTION: Few studies have examined the relationship of coffee and tea in Parkinson's disease (PD). The potential protective effect of coffee intake and risk of PD has not been studied in a Chinese population. There is a high prevalence of caffeine takers among Chinese in our population. OBJECTIVE: We undertook a case control study to examine the relationship between coffee and tea drinking, cigarette smoking, and other enviromental factors and risk of PD among ethnic Chinese in our population. METHODS AND RESULTS: 300 PD and 500 population controls were initially screened. Two hundred case control pairs matched for age, gender, and race were finally included in the analysis. Univariate analysis revealed significant association of PD with coffee drinking (p<0.0005), tea drinking (p=0.019), alcohol drinking (p=0.001), cigarette smoking (p<0.0005), and exposure to heavy metals (p=0.006). Conditional logistic regression analysis demonstrated that amount of coffee drunk (OR 0.787, 95%CI 0.664-0.932, p=0.006), amount of tea drunk (OR 0.724, 95%CI 0.559-0.937, p=0.014), number of cigarettes smoked (OR 0.384, 95%CI 0.204-0.722, p=0.003), history of heavy metal and toxin exposure (OR 11.837, 95%CI 1.075-130.366, p=0.044), and heart disease (OR 5.518, 95%CI 1.377-22.116, p=0.016) to be significant factors associated with PD. One unit of coffee and tea (3 cups/day for 10 years) would lead to a 22% and 28% risk reduction of PD. One unit of cigarette smoke (3 packs/day for 10 years) reduced the risk of PD by 62%. CONCLUSIONS: We demonstrated a dose-dependent protective effect of PD in coffee and tea drinkers and smokers in an ethnic Chinese population. A history of exposure to heavy metals increased the risk of PD, supporting the multifactorial etiologies of the disease.

Complex movement disorders following bilateral paramedian thalamic and bilateral cerebellar infarcts.

Complex movement disorders (CMD; including tremor, dystonias, choreoatheosis, and myoclonus) following infarcts in the posterior and posterolateral thalamic nuclei have been reported. This case of a 59-year-old man who developed CMD following bilateral paramedian and bilateral cerebellar infarcts illustrates the lack of anatomic specificity and the diverse pathophysiology which may underlie CMD.

Parkinson's disease surgery: advances and future strategies.

The recent resurgence of surgical treatment of Parkinson's disease has generated enormous interest in the scientific community and with the general public. Both ablation (pallidotomy, thalamotomy), deep brain stimulation (thalamus, pallidum, subthalamus), and neural transplantation (human, porcine) have been demonstrated to be effective for specific subsets of Parkinson's disease patients. Future studies need to define better the ideal target sites and lesion volume of ablation and stimulation procedures, and optimising graft survival in neural transplantation. Numerous potential surgical interventions are currently being evaluated.