Faculty Bibliography
Searched for:
school:SOM
Department/Unit:Neurology
Total Results:
23384
Executive Summary: Surviving Sepsis Campaign International Guidelines for the Management of Septic Shock and Sepsis-Associated Organ Dysfunction in Children
PMID: 32032264
ISSN: 1529-7535
CID: 4300862
Neurodevelopmental and Psychiatric Symptoms in Patients with a Cyst Compressing the Cerebellum: an Ongoing Enigma [Case Report]
A patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum. The patient was referred to our Ataxia Unit for consideration of surgical drainage of the cyst to improve his clinical constellation. This scenario led to an in-depth analysis including a literature review, functional resting-state MRI analysis of our patient compared to a group of controls, and genetic testing. While it is reasonable to consider that there may be a causal relationship between PFAC and neurodevelopmental or psychiatric symptoms in some patients, there is also a nontrivial prevalence of PFAC in the asymptomatic population and a significant possibility that many PFAC are incidental findings in the context of primary cognitive or psychiatric symptoms. Our functional MRI analysis is the first to examine brain function, and to report cerebellar dysfunction, in a patient presenting with cognitive/psychiatric symptoms found to have a structural abnormality compressing the cerebellum. These neuroimaging findings are inherently limited due to their correlational nature but provide unprecedented evidence suggesting that cerebellar compression may be associated with cerebellar dysfunction. Exome gene sequencing revealed additional etiological possibilities, highlighting the complexity of this field of cerebellar clinical and scientific practice. Our findings and discussion may guide future investigations addressing an important knowledge gap-namely, is there a link between cerebellar compression (including arachnoid cysts and possibly other forms of cerebellar compression such as Chiari malformation), cerebellar dysfunction (including fMRI abnormalities reported here), and neuropsychiatric symptoms?
PMCID:6984000
PMID: 31321675
ISSN: 1473-4230
CID: 5454232
Motor-cognitive approach and aerobic training: a synergism for rehabilitative intervention in Parkinson's disease
Parkinson's disease (PD) results in a complex deterioration of motor behavior. Effective pharmacological or surgical treatments addressing the whole spectrum of both motor and cognitive symptoms are lacking. The cumulative functional impairment may have devastating socio-economic consequences on both patients and caregivers. Comprehensive models of care based on multidisciplinary approaches may succeed in better addressing the overall complexity of PD. Neurorehabilitation is a highly promising non-pharmacological intervention for managing PD. The scientific rationale beyond rehabilitation and its practical applicability remain to be established. In the present perspective, we aim to discuss the current evidence supporting integrated motor-cognitive and aerobic rehabilitation approaches for patients with PD while suggesting a practical framework to optimize this intervention in the next future.
PMID: 32039653
ISSN: 1758-2032
CID: 4304142
Autoimmune psychosis - Authors' reply [Letter]
PMID: 31981531
ISSN: 2215-0374
CID: 4298742
Editors' note: Value of witness observations in the differential diagnosis of transient loss of consciousness [Comment]
PMID: 31988210
ISSN: 1526-632x
CID: 5092752
Editors' note: Pearls & Oy-sters: Challenging diagnosis of Gerstmann-Sträussler-Scheinker disease: Clinical and imaging findings [Comment]
PMID: 31988213
ISSN: 1526-632x
CID: 5092762
Does variability in motor output at individual joints predict stride time variability in gait? Influences of age, sex, and plane of motion
Old age is associated with variability in gait motor output, particularly in females, and is linked to fall risk. However, little is known about how older age and sex affect variability in the outputs of individual joints, and how these variabilities contribute to the collective gait output. Healthy adults aged 18-99 years (N = 102, 57 females) completed six trials of straight walking at self-selected speed. Stride time variability (coefficient of variation) and variabilities of lower limb tridimensional joint angles (standard deviations: SD) were calculated. Age * Sex (A * S) mixed models were conducted on all measures and year-by-year rates of change were subsequently estimated. Correlations and stepwise linear regression analyses were computed between joint angular variabilities and stride time variability. Each year of age was associated with 0.022% higher stride time variability (A: p = .002), 0.07° lower variability in peak ankle dorsiflexion (A: p = .004), 0.002-0.098° higher variability in mean ankle inversion/eversion, mean pelvic obliquity, and pelvic rotation range of motion (A: p < .05), and 0.024° higher variability in knee flexion/extension range of motion in males (A * S: p = .003). Higher variability in mean ankle and hip flexion/extension and in mean ankle inversion/eversion correlated with (Ï = 0.211-0.336; ps < 0.05) and independently predicted higher stride time variability (ps < 0.05), together explaining 21.9% of variance. Results suggest that higher stride time variability with older age may be produced by a shift from sagittal plane variability to frontal plane variability at the ankle.
PMID: 31870659
ISSN: 1873-2380
CID: 5353352
Multiple Sclerosis Severity Score: Concept and applications
Severity score represents disease duration-adjusted mean rank of disability in multiple sclerosis (MS) patients from the reference population. This measure allows one to compare the relative rates of disease progression among patients, patient subgroups, and across epochs, which opens up new question of what accounts for the observed differences in severity, and can be used to assess correlation between disease severity and clinical, radiologic, immunologic, genetic, and environmental variables of interest. Severity score can also prove useful for developing prognostic tools in MS. This article discusses the diverse applications of severity score concept in MS research, and (re)introduces Herbert's proposal of severity-based MS classification in the context of variability of MS severity.
PMID: 31965877
ISSN: 1477-0970
CID: 4273032
It's Time to Revise the Uniform Determination of Death Act
PMID: 31869833
ISSN: 1539-3704
CID: 4244052
FAM222A encodes a protein which accumulates in plaques in Alzheimer's disease
Alzheimer's disease (AD) is characterized by amyloid plaques and progressive cerebral atrophy. Here, we report FAM222A as a putative brain atrophy susceptibility gene. Our cross-phenotype association analysis of imaging genetics indicates a potential link between FAM222A and AD-related regional brain atrophy. The protein encoded by FAM222A is predominantly expressed in the CNS and is increased in brains of patients with AD and in an AD mouse model. It accumulates within amyloid deposits, physically interacts with amyloid-β (Aβ) via its N-terminal Aβ binding domain, and facilitates Aβ aggregation. Intracerebroventricular infusion or forced expression of this protein exacerbates neuroinflammation and cognitive dysfunction in an AD mouse model whereas ablation of this protein suppresses the formation of amyloid deposits, neuroinflammation and cognitive deficits in the AD mouse model. Our data support the pathological relevance of protein encoded by FAM222A in AD.
PMCID:6972869
PMID: 31964863
ISSN: 2041-1723
CID: 5134432
