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Abstract Background Newborns with critical health conditions are monitored in neonatal intensive care units (NICU). In NICU, one of the most important problems that they face is the risk of brain injury. There is a need for continuous monitoring of newborn's brain function to prevent any potential brain injury. This type of monitoring should not interfere with intensive care of the newborn. Therefore, it should be non-invasive and portable. Methods In this paper, a low-cost, battery operated, dual wavelength, continuous wave near infrared spectroscopy system for continuous bedside hemodynamic monitoring of neonatal brain is presented. The system has been designed to optimize SNR by optimizing the wavelength-multiplexing parameters with special emphasis on safety issues concerning burn injuries. SNR improvement by utilizing the entire dynamic range has been satisfied with modifications in analog circuitry. Results and Conclusion As a result, a shot-limited SNR of 67 dB has been achieved for 10 Hz temporal resolution. The system can operate more than 30 hours without recharging when an off-the-shelf 1850 mAh-7.2 V battery is used. Laboratory tests with optical phantoms and preliminary data recorded in NICU demonstrate the potential of the system as a reliable clinical tool to be employed in the bedside regional monitoring of newborn brain metabolism under intensive care.

Background: There is an ongoing increase in the demand for injectable procedures and an increase in the number of medical spas across the United States State regulations significantly vary regarding level of supervision at these medical spas., Objective: The aim of this study was to determine who performs cosmetic procedures, provides medical supervision, and who is being informed of complications., Methods: Descriptive study based on a standardized telephone interview performed by a prospective patient for injectable treatments performed at medical Spas in Las Vegas. Data were then extracted and analyzed., Results: Of 63 medical spas reviewed, most of the injectable treatments (73%) were performed by nonphysicians. An onsite physician who supervised or personally performed the cosmetic procedures was present in only 38.1% of the spas surveyed. Only 46% of surveyed medical spas notify a medical director/supervising physician in the event of a complication and only 39.7% of surveyed spas had a number to call after regular business hours., Conclusion: The majority of treatments are performed by nonphysicians in the spas surveyed. Physician supervisors are not on site in most of the spas and about half of spas do not inform the medical director in the event of a complication., (Copyright © 2024 by the American Society for Dermatologic Surgery, Inc. Published by Wolters Kluwer Health, Inc. All rights reserved.)

We have reviewed the current literature focused on the role of artificial intelligence (AI) for underserved populations and health equity in dermatology. Studies evaluating the utility and safety of AI model builds, and how they meet predefined benchmarks, as well as the clinical applications of AI, including decision-support systems and operational management, were the focus of this study. The seven studies included in our review provide an approach that assures underserved populations are the focus when developing and testing AI technology. They provide examples that could guide future studies focused on expanding care to underserved dermatology populations through the use of AI., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a fatty acid oxidation disorder characterized by the decreased ability of the enzyme very-long-chain acyl-CoA dehydrogenase to break down fatty acids with 14 to 20-long carbon chains. The resulting clinical manifestations are variable in severity and include hypoketotic hypoglycemia, rhabdomyolysis, and cardiomyopathy. Treatment can consist of limiting the dietary intake of long-chain fatty acids, the prevention of fasting, and the supplementation of medium-chain fats. This study, conducted in the context of a 5-year long-term follow-up on VLCADD, evaluates how the diagnosis of this fatty acid disorder impacts the family, specifically as it relates to the medical diet and barriers to care. Caregivers ( n = 10) of individuals with VLCADD responded to a survey about how VLCADD potentially impacts their family. The review included the clinical outcomes of the patients ( n = 11), covering instances of rhabdomyolysis, cardiomyopathy, and hospitalizations related to VLCADD. Families affected by VLCADD experience barriers to care, including difficulties with finances, ability to work, and access to nutrition.

Background: Alcohol use disorder is associated with high morbidity and mortality rates, leading to a significant burden worldwide. Increased hazardous alcohol consumption has been reported during the COVID-19 pandemic raising concerns for greater impact of this already prevalent serious medical condition., Methods: We conducted chart reviews and described demographic and clinical data for patients with two or more hospital readmissions from June 2020 to July 2021 and followed survival status through June 2022., Results: We found a high mortality rate of 10.3%. Most patients had psychiatric conditions listed in the chart (n = 70, 80%). Only 34% (n = 24) of living patients and 6% (n = 1) of deceased patients were under psychiatric care. Rates of the utilization of medications for alcohol use disorder were low (n = 23, 26%)., Interpretation: We found high mortality rates in patients with two or more hospital readmissions with low rates of utilization of medications for alcohol use disorder and psychiatric care, thus identifying areas of potential improvement., Competing Interests: Conflict of interest No financial disclosures or conflicts of interest., (© 2023 Greater Baltimore Medical Center.)

Background: As one of the defining features of the face, the ear influences perceptions of beauty. Despite its significance, comparatively little is known about rejuvenation options for the ear., Objective: To provide a comprehensive review of minimally invasive options for earlobe rejuvenation., Methods: & Materials: Cochrane, Embase, and PubMed were used to identify articles exploring minimally invasive treatments for ear rejuvenation., Results: Topical medications, peels, fillers, lasers, photodynamic therapy, and dermabrasion are safe and efficacious for managing a variety of concerns related to earlobe aesthetics., Conclusion: Numerous minimally invasive treatment modalities are available for earlobe rejuvenation; further investigation is needed to design a grading system and treatment algorithm., (Copyright © 2023 by the American Society for Dermatologic Surgery, Inc. Published by Wolters Kluwer Health, Inc. All rights reserved.)

Children with medical complexity are at increased risk of neurodevelopmental conditions. Signs or symptoms of neurodevelopmental conditions may be more apparent in the context of a medical illness or hospitalization. Thus, primary care, front-line subspecialty and hospital-based pediatricians are encouraged to be on the alert for these conditions from infancy through adolescence. Medical and mental health issues must be considered in the differential diagnoses when children with neurodevelopmental conditions present with a change or regression in their behavior. Management of maladaptive behaviors includes managing the underlying medical and mental health conditions that are contributing to the behavior, environmental supports, behavior therapy interventions, communication and other skills building support for the child, as well as judicious use of medication when necessary., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Introduction: Primary care physicians (PCPs) are considered the gatekeepers of genetic services, but they often underutilize or inappropriately utilize such services, leading to lack of early treatment, incorrect diagnoses, and unnecessary procedures. This study aims to delineate PCP referral patterns, including the frequency of, motivators for, and barriers to genetic referrals and testing in the present landscape of genomics., Methods: A 34-item online survey was distributed to PCPs in the United States (US). PCP demographics, practice characteristics, and referral patterns, motivators, and barriers were analyzed. Six hypothetical clinical scenarios included in the survey also were presented to a cohort of clinical geneticists. We calculated PCPs' rates of ordering genetic tests and of referral to genetics services in the past year. Rates and responses to clinical scenarios were compared based on respondents' personal and practice characteristics., Results: A total of 95 PCPs and 25 clinical geneticists participated. Among the PCPs, 79% reported referring and 50% reported ordering genetic testing in the last year. PCPs with genetic counselors (GCs) in their clinic referred at significantly higher rates than those without ( P  = .008). White PCPs referred at significantly higher rates compared to Black or African American PCPs ( P  = .009). The most commonly reported motivators for referring patients to genetic services were preference for specialist coordination, lack of knowledge, and family's desire for risk information. The most commonly reported barriers were patient refusal, provider concerns about costs to patients, and uncertainty of when a genetic referral is appropriate. In response to clinical scenarios, clinical geneticists were in agreement about the need for genetic testing or referral for 2 of the scenarios. For these 2 scenarios, only 48% and 71% of PCPs indicated that they would offer genetic testing or referral, respectively., Conclusions: Responses to clinical scenarios suggest that it is not clear to PCPs when referrals or testing are needed. Collaboration with GCs is one approach to reducing barriers to and improving PCPs' utilization of genetic services. Clear guidelines from clinical geneticists may help facilitate appropriate use of genetics services by PCPs. Additional research is needed to further describe barriers that PCPs face in genetic testing/referrals.

Disordered selfhood in schizophrenia was rediscovered at the turn of the millennium. In 2005, Psychopathology published the psychometric instrument, the Examination of Anomalous Self-Experience (EASE). In this article, we summarize the historical background of the creation of the EASE, explicate the notion of the disorder of basic or minimal self with the help of phenomenological philosophy, and provide a brief description of clinical manifestations targeted by the EASE. We also present our personal experience using and teaching the EASE and summarize the empirical evidence obtained so far. We conclude that the basic self-disorder represents a crucial phenotype of schizophrenia spectrum disorders and that this phenotype offers a potential avenue to empirical pathogenetic research and psychotherapeutic treatment., (The Author(s). Published by S. Karger AG, Basel.)

Purpose: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences., Methods: We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants. We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms., Results: IQSEC2 pathogenic variants mainly led to premature truncation and were scattered throughout the longest brain-specific isoform, encoding the synaptic IQSEC2/BRAG1 protein. Variants occurred de novo in females but were either de novo (2/3) or inherited (1/3) in males, with missense variants being predominantly inherited. Developmental delay and intellectual disability were overall more severe in males than in females. Likewise, seizures were more frequently observed and intractable, and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intellectual disability or resistance to antiepileptic treatments., Conclusion: This study provides a comprehensive overview of IQSEC2-related encephalopathy in males and females, and suggests that an accurate dosage of IQSEC2 at the synapse is crucial during normal brain development.

Huntington disease (HD) is a progressive neurodegenerative disorder. Presymptomatic genetic testing allows at-risk individuals to clarify their risk status. Understanding the characteristics and motivations of individuals seeking HD presymptomatic genetic testing better equips genetic counselors and other healthcare professionals to provide comprehensive and personalized care. The aims of this study were to (1) determine whether the average age when individuals seek presymptomatic HD genetic testing has decreased over time, (2) assess motivations for seeking testing, (3) explore whether there is a relationship between age and motivations, and (4) explore genetic counselors' perceptions of the shift in age. Data from the US HD testing centers (N = 4) were analyzed. A small but statistically significant decrease in age of individuals seeking presymptomatic testing was observed (p = 0.045). HD community members (N = 77) were surveyed regarding presymptomatic testing motivations. Younger individuals were more likely than older individuals to cite "To learn whether or not you would develop HD" and "To make choices about further education or a career" compared to older individuals (p < 0.05). Conversely, older individuals more frequently cited "To give children a better idea of their risk" (p < 0.002). Sixteen percent of genetic counselors surveyed (6/37) perceived a change in age of testing. All of these respondents had provided HD testing for ten or more years and anecdotally believed the age at testing has decreased over time. Study results help providers personalize counseling based on patient's age and serve as a starting point for more research into the relationship between age at testing and motivations for testing.

Background: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort., Methods: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60.7%) or segmental (39.3%) cervical dystonia on examination. Clinical and demographic characteristics were evaluated in terms of the body region of dystonia onset and spread., Results: Site of dystonia onset was: (1) focal neck only (78.5%), (2) focal onset elsewhere with later segmental spread to neck (13.3%), and (3) segmental onset with initial neck involvement (8.2%). Frequency of spread from focal cervical to segmental dystonia (22.8%) was consistent with prior reports, but frequency of segmental onset with initial neck involvement was substantially higher than the 3% previously reported. Cervical dystonia with focal neck onset, more than other subtypes, was associated with spread and tremor of any type. Sensory tricks were less frequent in cervical dystonia with segmental components, and segmental cervical onset occurred at an older age., Conclusions: Subgroups had modest but significant differences in the clinical characteristics that may represent different clinical entities or pathophysiologic subtypes. These findings are critical for design and implementation of studies to describe, treat, or modify disease progression in idiopathic isolated cervical dystonia. © 2016 International Parkinson and Movement Disorder Society., (© 2016 International Parkinson and Movement Disorder Society.)

Botulinum toxin (BoNT) is highly effective in the treatment of cervical dystonia (CD), yet a significant proportion of patients report low levels of satisfaction following treatment and fail to follow up for repeated treatments. The goal of this study was to determine the reasons that some patients have unsatisfactory responses. A total of 35 subjects who came to our center requesting alternative treatments due to unsatisfactory responses following BoNT treatment for CD were evaluated. Included were 26 women and 9 men with an average age of 57.1 years (range 25-82 years), and an average duration of illness of 12.5 years (range 1-55 years). Details of unsatisfactory BoNT treatments were methodically collected by a movement specialist using a standardized intake form, including provider subspecialty, product used, the number of satisfactory or unsatisfactory trials, doses given, specific muscles treated, the use of electromyographic guidance, side effects, and tests of resistance. The specialist then provided repeat treatments if indicated, and followed each case until the reasons for unsatisfactory outcomes could be determined. Multiple reasons for unsatisfactory outcomes were found. They included suboptimal BoNT doses, suboptimal muscle targeting, intolerable side effects, complex movement patterns, discordant perceptions, and incorrect diagnoses. Only one patient was functionally resistant to BoNT. Of 32 subjects who received repeat BoNT treatments, 25 (78 %) achieved satisfactory responses after revision of the original treatment plan. These results indicate that the majority of unsatisfactory responses to BoNT treatment of CD were caused by correctible factors and imply a need for improved education regarding optimal treatment methods.

Objective: To characterize the clinical and genetic features of cervical dystonia (CD)., Methods: Participants enrolled in the Dystonia Coalition biorepository (NCT01373424) with initial manifestation as CD were included in this study (n = 1,000). Data intake included demographics, family history, and the Global Dystonia Rating Scale. Participants were screened for sequence variants (SVs) in GNAL, THAP1, and Exon 5 of TOR1A., Results: The majority of participants were Caucasian (95%) and female (75%). The mean age at onset and disease duration were 45.5 ± 13.6 and 14.6 ± 11.8 years, respectively. At the time of assessment, 68.5% had involvement limited to the neck, shoulder(s), and proximal arm(s), whereas 47.4% had dystonia limited to the neck. The remaining 31.5% of the individuals exhibited more extensive anatomical spread. A head tremor was noted in 62% of the patients. Head tremor and laryngeal dystonia were more common in females. Psychiatric comorbidities, mainly depression and anxiety, were reported by 32% of the participants and were more common in females. Family histories of dystonia, parkinsonian disorder, and tremor were present in 14%, 11%, and 29% of the patients, respectively. Pathogenic or likely pathogenic SVs in THAP1, TOR1A, and GNAL were identified in 8 participants (0.8%). Two individuals harbored novel missense SVs in Exon 5 of TOR1A. Synonymous and noncoding SVs in THAP1 and GNAL were identified in 4% of the cohort., Conclusions: Head tremor, laryngeal dystonia, and psychiatric comorbidities are more common in female participants with CD. Coding and noncoding variants in GNAL, THAP1, and TOR1A make small contributions to the pathogenesis of CD.

Effective business models for teledermatology must be implemented to make the practice a feasible option for dermatologists to deliver care. This study sought to detect and report types of teledermatology business models in practice. We interviewed 19 private and academic dermatologists who have been reimbursed for teledermatology services. Most respondents described teledermatology business models fitting 4 categories-standard fee-for-service reimbursement from insurance, capitated service contracts, per-case service contracts, and direct to consumer-which are described in this article. We also anticipate new teledermatology business models will be needed as technology and insurance reimbursements evolve.

Introduction: The aim of this study was to test the clinimetric properties of the Comprehensive Cervical Dystonia Rating Scale. This is a modular scale with modifications of the Toronto Western Spasmodic Torticollis Rating Scale (composed of three subscales assessing motor severity, disability, and pain) now referred to as the revised Toronto Western Spasmodic Torticollis Scale-2; a newly developed psychiatric screening instrument; and the Cervical Dystonia Impact Profile-58 as a quality of life measure., Methods: Ten dystonia experts rated subjects with cervical dystonia using the comprehensive scale. Clinimetric techniques assessed each module of the scale for reliability, item correlation, and factor structure., Results: There were 208 cervical dystonia patients (73% women; age, 59 ± 10 years; duration, 15 ± 12 years). Internal consistency of the motor severity subscale was acceptable (Cronbach's alpha = 0.57). Item to total correlations showed that elimination of items with low correlations (<0.20) increased alpha to 0.71. Internal consistency estimates for the subscales for disability and pain were 0.88 and 0.95, respectively. The psychiatric screening scale had a Cronbach's alpha of 0.84 and satisfactory item to total correlations. When the subscales of the Toronto Western Spasmodic Torticollis Scale-2 were combined with the psychiatric screening scale, Cronbach's alpha was 0.88, and construct validity assessment demonstrated four rational factors: motor; disability; pain; and psychiatric disorders. The Cervical Dystonia Impact Profile-58 had an alpha of 0.98 and its construction was validated through a confirmatory factor analysis., Conclusions: The modules of the Comprehensive Cervical Dystonia Rating Scale are internally consistent with a logical factor structure., (© 2016 International Parkinson and Movement Disorder Society.)

We present the methodology utilized for development and clinimetric testing of the Comprehensive Cervical Dystonia (CD) Rating scale, or CCDRS. The CCDRS includes a revision of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-2), a newly developed psychiatric screening tool (TWSTRS-PSYCH), and the previously validated Cervical Dystonia Impact Profile (CDIP-58). For the revision of the TWSTRS, the original TWSTRS was examined by a committee of dystonia experts at a dystonia rating scales workshop organized by the Dystonia Medical Research Foundation. During this workshop, deficiencies in the standard TWSTRS were identified and recommendations for revision of the severity and pain subscales were incorporated into the TWSTRS-2. Given that no scale currently evaluates the psychiatric features of cervical dystonia (CD), we used a modified Delphi methodology and a reiterative process of item selection to develop the TWSTRS-PSYCH. We also included the CDIP-58 to capture the impact of CD on quality of life. The three scales (TWSTRS2, TWSTRS-PSYCH, and CDIP-58) were combined to construct the CCDRS. Clinimetric testing of reliability and validity of the CCDRS are described. The CCDRS was designed to be used in a modular fashion that can measure the full spectrum of CD. This scale will provide rigorous assessment for studies of natural history as well as novel symptom-based or disease-modifying therapies.

Background: We developed a novel secured web-based dystonia video repository for the Dystonia Coalition, part of the Rare Disease Clinical Research network funded by the Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke. A critical component of phenotypic data collection for all projects of the Dystonia Coalition includes a standardized video of each participant. We now describe our method for collecting, serving and securing these videos that is widely applicable to other studies., Methods: Each recruiting site uploads standardized videos to a centralized secured server for processing to permit website posting. The streaming technology used to view the videos from the website does not allow downloading of video files. With appropriate institutional review board approval and agreement with the hosting institution, users can search and view selected videos on the website using customizable, permissions-based access that maintains security yet facilitates research and quality control., Results: This approach provides a convenient platform for researchers across institutions to evaluate and analyze shared video data. We have applied this methodology for quality control, confirmation of diagnoses, validation of rating scales, and implementation of new research projects., Conclusions: We believe our system can be a model for similar projects that require access to common video resources., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

Background: Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. The neck is among the most commonly affected regions, and diagnosis can be made readily through a simple clinical evaluation. The goal of this study was to explore how long it took patients to receive a diagnosis of cervical dystonia after symptom onset., Methods: A structured questionnaire was administered at outpatient clinics of a tertiary care academic medical center to 146 consecutively evaluated patients. The questionnaire addressed the length of time from symptom onset to diagnosis, the numbers and types of providers seen before reaching a diagnosis, and treatments attempted prior to receiving botulinum toxin., Results: A total of 108 patients saw a mean of 3.5 providers over a mean period of 44 months from symptom onset to diagnosis. For patients with symptom onset in the last decade only, patients saw a mean of 3.0 providers over a mean of 14 months., Conclusions: Although cervical dystonia is the most common form of dystonia with clinical features readily identifiable by a simple history and examination, patients typically see multiple providers over more than a year before reaching a diagnosis and receiving optimal therapy. Improved awareness of the clinical features will enable patients to obtain appropriate therapy more rapidly., (© 2013.)

The most common forms of dystonia are those that develop in adults and affect a relatively isolated region of the body. Although these adult-onset focal dystonias are most prevalent, knowledge of their etiologies and pathogenesis has lagged behind some of the rarer generalized dystonias, in which the identification of genetic defects has facilitated both basic and clinical research. This summary provides a brief review of the clinical manifestations of the adult-onset focal dystonias, focusing attention on less well understood clinical manifestations that need further study. It also provides a simple conceptual model for the similarities and differences among the different adult-onset focal dystonias as a rationale for lumping them together as a class of disorders while at the same time splitting them into subtypes. The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders and for developing novel therapeutics., (© 2013 Movement Disorder Society.)

Glia cells are uniquely positioned at synapses, contacting pre- and post-synaptic terminals. At the Drosophila neuromuscular junction, a novel glia-derived TGF-β ligand has been found that modulates a retrograde synaptogenic signal., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

Transcranial direct current stimulation (tDCS) is a method of non-invasive brain stimulation which uses weak electric currents applied on the scalp to modulate activity of underlying brain tissue. In addition to being used as a tool for cognitive neuroscience investigations, tDCS has generated considerable interest for use as a therapeutic modality for neurologic disorders. Though the safety and tolerability of tDCS in adults is well-established, there is little information on the safety of tDCS in children. Because there are differences between children and adults in several key parameters (such as skull thickness and cerebrospinal fluid volume) which affect current flow through the brain, special consideration should be given to the stimulation parameters which are used in a pediatric study population. In this study we present cortical electrical field maps at different stimulation intensities and electrode configurations using a high-resolution-MRI derived finite element model of a typically developing, anatomically normal 12 year old child. The peak electrical fields for a given stimulus intensity in the adolescent brain were twice as high as in the adult brain for conventional tDCS and nearly four times as high for a 4X1 High-Definition tDCS electrode configuration. These data suggest that acceptable tDCS stimulation parameters may be different in children compared to adults, and that further modeling studies are needed to help guide decisions about applied current intensity.

Our aim was to examine disease-related and genetic correlates of the development of psychotic symptoms in a large population of patients with Parkinson's disease. We studied 500 patients with Parkinson's disease from the NeuroGenetics Research Consortium using logistic regression models. Predictors were demographic, clinical (motor/nonmotor features), and genetic, measured as continuous or dichotomous variables. Continuous measures were divided into population-based tertiles. Results are given as odds ratios (95% confidence intervals) for dichotomous variables and by ascending tertile for continuous variables. Psychotic symptoms were associated with increasing age: 4.86 (1.62-14.30) and 6.25 (2.09-18.74) (test for trend: P = 0.01); and duration of disease: 3.81 (1.23-11.76) and 5.33 (1.68-16.89) (test for trend: P = 0.03). For nonmotor features, we demonstrated positive trends with depression: 1.31 (0.47-3.61) and 5.01 (2.04-12.33) (test for trend: P < 0.0001); cognitive dysfunction: 0.69 (0.26-1.84) and 2.51 (1.00-6.29) (test for trend: P = 0.03); and an excess for those with sleep disorders: 2.00 (1.03-3.89) (P = 0.04). Psychotic symptoms were not associated with tremor or postural instability scores, but there was an association with freezing of gait: 3.83 (1.67-8.75) (P < 0.002). Psychotic symptoms were not associated with the presence of any examined polymorphisms in the apolipoprotein, alpha-synuclein, or microtubule associated protein tau genes. This is the largest study to examine correlates of psychotic symptoms in Parkinson's disease. We discovered a novel association with freezing of gait. We demonstrated an association with depression and duration of disease, both of which were inconsistently related in previous studies, and confirmed the association with age, cognitive dysfunction, and sleep disorders., (Copyright © 2011 Movement Disorder Society.)

Objective: To test the hypothesis that postural instability with falling (PIF) and freezing of gait (FOG) are distinct subtypes of the postural instability/gait disturbance (PIGD) form of Parkinson's disease (PD)., Methods: 499 PD subjects from the NeuroGenetics Research Consortium were studied using logistic regression to examine, in a cross sectional analysis, predictors of FOG and PIF. Potential predictors were from four spheres; demographic, clinical motor, clinical non-motor and genetic., Results: FOG and PIF were both associated with greater gait subscores and lower tremor subscores on the Unified Parkinson's Disease Rating Scale (p ≤ 0.02). However, they differed with regard to demographic, non-motor and genetic predictors. FOG was associated with greater duration of disease, with ORs of 3.01 (95% CI 1.35 to 6.72) and 4.91 (95% CI 2.29 to 10.54) for third and fourth quartiles of duration, respectively, versus the lowest half of duration. The risk of having psychotic symptoms was also significantly increased (OR 3.02, 95% CI 1.41 to 6.49; p=0.004). FOG was inversely associated with the presence of the CYP2D6*4 allele (OR 0.41, 95% CI 0.21 to 0.80; p=0.009) suggesting a protective effect. PIF was associated with depression (OR 1.08, 95% CI 1.01 to 1.15; p<0.02) and was inversely associated with APOE ε4 (OR 0.21, 95% CI 0.05 to 0.87; p=0.03), again suggesting a protective effect., Conclusion: FOG and PIF have different demographic, non-motor and genetic predictors suggesting that they may be pathophysiologically distinct subtypes of PIGD. These findings have implications in the discovery of therapeutic targets for these disabling features as well as for predicting outcomes of PD.

We identified a marker in LINGO1 showing genome-wide significant association (P = 1.2 x 10(-9), odds ratio = 1.55) with essential tremor. LINGO1 has potent, negative regulatory influences on neuronal survival and is also important in regulating both central-nervous-system axon regeneration and oligodendrocyte maturation. Increased axon integrity observed in Lingo1 mouse [corrected] knockout models highlights the potential role of LINGO1 in the pathophysiology of ET [corrected]

Study Design: A reliability assessment of standardized magnetic resonance imaging (MRI) interpretations and measurements., Objective: To determine the intra- and inter-reader reliability of MRI features of lumbar spinal stenosis (SPS), including severity of central, subarticular, and foraminal stenoses, grading of nerve root impingement, and measurements of cross-sectional area of the spinal canal and thecal sac., Summary of Background Data: MRI is commonly used to assess patients with spinal stenosis. Although a number of studies have evaluated the reliability of certain MRI characteristics, comprehensive evaluation of the reliability of MRI readings in spinal stenosis is lacking., Methods: Fifty-eight randomly selected MR images from patients with SPS enrolled in the Spine Patient Outcomes Research Trial were evaluated. Qualitative ratings of imaging features were performed according to defined criteria by 4 independent readers (3 radiologists and 1 orthopedic surgeon). A sample of 20 MRIs was reevaluated by each reader at least 1 month later. Weighted kappa statistics were used to characterize intra- and inter-reader reliability for qualitative rating data. Separate quantitative measurements were performed by 2 other radiologists. Intraclass correlation coefficients and summaries of measurement error were used to characterize reliability for quantitative measurements., Results: Intra-reader reliability was higher than inter-reader reliability for all features. Inter-reader reliability in assessing central stenosis was substantial, with an overall kappa of 0.73 (95% CI 0.69-0.77). Foraminal stenosis and nerve root impingement showed moderate to substantial agreement with overall kappa of 0.58 (95% CI 0.53-0.63) and 0.51 (95% CI 0.42-0.59), respectively. Subarticular zone stenosis yielded the poorest agreement (overall kappa 0.49; 95% CI 0.42-0.55) and showed marked variability in agreement between reader pairs. Quantitative measures showed inter-reader intraclass correlation coefficients ranging from 0.58 to 0.90. The mean absolute difference between readers in measured thecal sac area was 128 mm (13%)., Conclusion: The imaging characteristics of spinal stenosis assessed in this study showed moderate to substantial reliability; future studies should assess whether these findings have prognostic significance in SPS patients.

Study Design: Assessment of the reliability of standardized magnetic resonance imaging (MRI) interpretations and measurements., Objective: To determine the intra- and inter-reader reliability of MRI parameters relevant to patients with intervertebral disc herniation (IDH), including disc morphology classification, degree of thecal sac compromise, grading of nerve root impingement, and measurements of cross-sectional area of the spinal canal, thecal sac, and disc fragment., Summary of Background Data: MRI is increasingly used to assess patients with sciatica and IDH, but the relationship between specific imaging characteristics and patient outcomes remains uncertain. Although other studies have evaluated the reliability of certain MRI characteristics, comprehensive evaluation of the reliability of readings of herniated disc features on MRI is lacking., Methods: Sixty randomly selected MR images from patients with IDH enrolled in the Spine Patient Outcomes Research Trial were each rated according to defined criteria by 4 independent readers (3 radiologists and 1 orthopedic surgeon). Quantitative measurements were performed separately by 2 other radiologists. A sample of 20 MRIs was re-evaluated by each reader at least 1 month later. Agreement for rating data were assessed with kappa statistics using linear weights. Reliability of the quantitative measurements was assessed using intraclass correlation coefficients (ICCs) and summaries of measurement error., Results: Inter-reader reliability was substantial for disc morphology [overall kappa 0.81 (95% confidence interval (CI): 0.78, 0.85)], moderate for thecal sac compression [overall kappa 0.54 (95% CI: 0.37, 0.68)], and moderate for grading nerve root impingement [overall kappa 0.47 (95% CI: 0.36, 0.56)]. Quantitative measures showed high ICCs of 0.87 to 0.96 for spinal canal and thecal sac cross-sectional areas. Measures of disc fragment area had moderate ICCs of 0.65 to 0.83. Mean absolute differences between measurements ranged from approximately 15% to 20%., Conclusion: Classification of disc morphology showed substantial intra- and inter-reader agreement, whereas thecal sac and nerve root compression showed more moderate reader reliability. Quantitative measures of canal and thecal sac area showed good reliability, whereas measurement of disc fragment area showed more modest reliability.

This case-control study examined the potential for a common etiology of Parkinson's disease (PD) and Alzheimer's disease (AD) using reported family history. Structured interviews were used to collect AD and PD family history from subjects (n = 1,531) with AD, PD, AD/PD, or controls. Intergroup analysis compared reported AD and PD family histories in the three case groups to the histories reported in the control group. Intragroup analysis stratified each diagnostic group based on positive family history of AD, then compared the subgroups for a family history of PD. Subjects with AD had a higher risk of having a family history of AD [odds ratio (OR) 2.3; 1.5-3.4] and subjects with PD had a higher risk of having a family history of PD (OR 2.2; 1.2-4.0) as compared to control subjects. Intergroup analyses revealed no significant crossed risk, increased risk of subjects with AD having a family history of PD vs controls and vice versa. Intragroup analysis found that subjects with PD and a family history of AD were more likely to have a family history of PD (OR 1.7; 1.1-2.6) when compared to subjects with PD and no family history of AD. A similar trend was found for subjects with AD (OR 1.7; 0.9-3.1). AD and PD cases each have an increased familial risk of their respective disease. Probands with AD or PD and a family history of either disease have a higher crossed risk of a family history of the other disease. These findings suggest the existence of common genetic and/or environmental factors that predispose to both AD and PD in the subset of cases with positive family history of both neurodegenerative diseases.

There is little published on the radiology of small joint arthroplasty when compared with the commonly performed hip or knee replacement. The types of joint replacement, their clinical efficacy, and the expected radiographic appearances are reviewed for each of these upper and lower extremity joints. Potential complications and their radiographic appearances are presented.

Natural rodent grooming and other instinctive behavior serves as a natural model of complex movement sequences. Rodent grooming has syntactic (rule-driven) sequences and more random movement patterns. Both incorporate the same movements--only the serial structure differs. Recordings of neural activity in the dorsolateral striatum and the substantia nigra pars reticulata indicate preferential activation during syntactic sequences over more random sequences. Neurons that are responsive during syntactic grooming sequences are often unresponsive or have reverse activation profiles during kinematically similar movements that occur in flexible or random grooming sequences. Few neurons could be categorized as strictly movement related--instead they were activated only in the context of particular sequential patterns of movements. Particular sequential patterns included "syntactic chain" grooming sequences of paw, head, and body movements and also "warm-up" sequences, which consist of head and body/limb movements that precede locomotion after a period of quiet resting (Golani 1992). Activation during warm-up was less intense and less frequent than during grooming sequences, but both sequences activated neurons above baseline levels, and the same neurons sometimes responded to both sequences. The fact that striatal neurons code 2 natural sequences which are made up of different constituent movements suggests that the basal ganglia may have a generalized role in sequence control. The basal ganglia are modulated by the context of the sequence and may play an executive function in the complex natural patterns of sequenced behaviour.