Nonmotor symptoms are common in Parkinson disease and can significantly worsen the health and quality of life of the patient and family members. These symptoms can be broadly categorized as sensory, autonomic, cognitive-behavioral, and sleep-related. Clinicians can improve the care of these patients by recognizing and addressing these problems.
Background: Achieving optimal results following deep brain stimulation (DBS) typically involves several months of programming sessions. The Graphical User Interface for DBS Evaluation (GUIDE) study explored whether a visual programming system could help clinicians accurately predetermine ideal stimulation settings in DBS patients with Parkinson's disease. Methods: A multicenter prospective, observational study was designed that utilized a blinded Unified Parkinson's Disease Rating Scale (UPDRS)-III examination to prospectively assess whether DBS settings derived using a neuroanatomically based computer model (Model) could provide comparable efficacy to those determined through traditional, monopolar review-based programming (Clinical). We retrospectively compared the neuroanatomical regions of stimulation, power consumption and time spent on programming using both methods. Results: The average improvement in UPDRS-III scores was 10.4 ± 7.8 for the Model settings and 11.7 ± 8.7 for the Clinical settings. The difference between the mean UPDRS-III scores with the Model versus the Clinical settings was 0.26 and not statistically significant (p = 0.9866). Power consumption for the Model settings was 48.7 ± 22 μW versus 76.1 ± 46.5 μW for the Clinical settings. The mean time spent programming using the Model approach was 31 ± 16 s versus 41.4 ± 29.1 min using the Clinical approach. Conclusion: The Model-based DBS settings provided similar benefit to the Clinical settings based on UPDRS-III scores and were often arrived at in less time and required less power than the Clinical settings.
When more really means more: WGS standards and quality control Next-generation sequencing (NGS) is reshaping the landscape of modern genetic diagnostic laboratories and their operational standards. NGS is gradually replacing the single-gene Sanger sequencing with targeted multigene panel-based resequencing for genes with variants implicated in any number of common diseases, from cardiovascular or neurological disorders to cancers or drug treatment response. Further advances in technology are positioning whole exome and ultimately whole genome sequencing (WES and WGS) for common diagnostic use. In a rapidly changing environment, quality control considerations are crucial. In this issue, Stephan White et al. (Hum Mutat 38: 912-921, 2017) discuss the critical steps that are required to properly perform WGS. They emphasize the key differences between WGS and WES, the important variables that need to be taken into serious consideration when performing NGS for both germline and somatic variants, the necessary quality control measures to monitor the entire process, and the standard operation procedures to ensure that NGS services will always be provided in a standardized manner. It is obvious that further technological advances in massively parallel DNA sequencing technology, accompanied by concomitant price reductions, will make WES and WGS more affordable and hence easier to become the ultimate genetic test in molecular diagnosis. Such advances must undoubtedly be accompanied with the necessary health technology assessment and economic evaluation analyses, demonstrating that such approaches are indeed cost-effective so that they can be adopted sooner and, most importantly, are covered by national healthcare systems. The points discussed in White et al., combined with those from recently published guidelines for variant calling, genomic databases, genomic data sharing and translational tools, should facilitate implementation of NGS services into the molecular diagnostic setting for routine clinical care.
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