Defining Biological Phenotypes of Mild Traumatic Brain Injury Using Saliva MicroRNA Profiles.

Concussion is a heterogeneous injury that relies predominantly on subjective symptom reports for patient assessment and treatment. Developing an objective, biological test could aid phenotypic categorization of concussion patients, leading to advances in personalized treatment. This prospective multi-center study employed saliva micro-ribonucleic acid (miRNA) levels to stratify 251 individuals with concussion into biological subgroups.

Comprehensive analysis of two Shank3 and the Cacna1c mouse models of autism spectrum disorder.

To expand, analyze and extend published behavioral phenotypes relevant to autism spectrum disorder (ASD), we present a study of three ASD genetic mouse models: Feng's Shank3 model, hereafter Shank3/F, Jiang's Shank3 model, hereafter Shank3/J and the Cacna1c deletion model. The Shank3 models mimick gene mutations associated with Phelan-McDermid Syndrome and the Cacna1c model recapitulates the deletion underlying Timothy syndrome. This study utilizes both standard and novel behavioral tests with the same methodology used in our previously published companion report on the Cntnap2 null and 16p11.

Urologic Management and Complications in Spinal Cord Injury Patients: A 40- to 50-year Follow-up Study.

Objective: To assess the management and types of urologic complications in spinal cord injury (SCI) patients and to explore the risk factors for these complications.

Methods: A total of 43 SCI patients with a median follow-up of 45 (range 40-50) years were included in this retrospective study. All medical charts were reviewed for demographics, urologic complications, and bladder management.

Advanced neuroimaging in the clinic: critical appraisal of the evidence base.

The shortage of high-quality systematic reviews in the field of radiology limits evidence-based integration of imaging methods into clinical practice and may perpetuate misconceptions regarding the efficacy and appropriateness of imaging techniques for specific applications. Diffusion tensor imaging for patients with mild traumatic brain injury (DTI-mTBI) and dynamic susceptibility contrast MRI for patients with glioma (DSC-glioma) are applications of quantitative neuroimaging, which similarly detect manifestations of disease where conventional neuroimaging techniques cannot. We performed a critical appraisal of reviews, based on the current evidence-based medicine methodology, addressing the ability of DTI-mTBI and DSC-glioma to (a) detect brain abnormalities and/or (b) predict clinical outcomes.

Diagnosing primary immunodeficiency: a practical approach for the non-immunologist.

Objective: This review will provide an overview of the most common clinical presentations of primary immunodeficiency (PI), navigating through various affected organ systems. The goal is to accurately portray the high variability of this disease and provide a resource that helps to raise the index of suspicion of PI among physicians, aid in recognition of various PI disorders, and trigger more frequent screenings with appropriate referrals to immunologists for further evaluation and treatment.

Summary: Patients with PI comprise more than 200 defined genetic abnormalities.

Neurogenic lower urinary tract dysfunction: how, when, and with which patients do we use urodynamics?

Neurogenic lower urinary tract dysfunction (NLUTD) affects many patients and requires close monitoring. Initial studies establishing patients at risk for upper tract disease revealed that high detrusor leak point pressures were predictive of upper tract disease. Urodynamics in patients with NLUTD have specific challenges.

Brain or strain? Symptoms alone do not distinguish physiologic concussion from cervical/vestibular injury.

Objective: To compare symptoms in patients with physiologic postconcussion disorder (PCD) versus cervicogenic/vestibular PCD. We hypothesized that most symptoms would not be equivalent. In particular, we hypothesized that cognitive symptoms would be more often associated with physiologic PCD.

No regional gray matter atrophy differences between pediatric- and adult-onset relapsing-remitting multiple sclerosis.

Objective: To investigate differences in region-specific gray matter (GM) damage between adults with pediatric-onset (PO) multiple sclerosis (MS) and adult-onset (AO) MS.

Methods: Twenty-four relapsing-remitting (RR) adults with POMS (mean age = 35 years, mean disease duration = 18.4 years) were compared to 23 age-matched (AOA, mean age = 33.

Limb ataxia originating from peri-central sulcus demyelinating lesion in multiple sclerosis.

Background: To report the development of limb ataxia/intention tremor (LA/IT) associated with inflammatory demyelinating cortical peri-central sulcus lesions.

Methods: We describe a case series of five multiple sclerosis (MS) patients followed at the Jacobs Neurological Institute who developed LA/IT associated with contralateral cortical lesions without visible subtentorial MRI pathology. Demographics, MRI findings and tremor evolution in relation to specific therapies were recorded.

Angiotensin-converting enzyme inhibitors.

KEY POINTS AND RECOMMENDATIONS: •  In addition to hypertension, angiotensin-converting enzyme inhibitors are indicated for treatment of patients at high risk for coronary artery disease, after myocardial infarction, with dilated cardiomypathy, or with chronic kidney disease. •  The most familiar angiotensin-converting enzyme subtype, angiotensin-converting enzyme-1 (kininase II), cleaves the vasoconstrictor octapeptide angiotensin II from its inactive decapeptide precursor, angiotensin I, while simultaneously inactivating the vasodilator bradykinin. •  Biochemical pathways within and around the renin-angiotensin system are highly species-specific; there is little evidence that "angiotensin-converting enzyme bypass pathways" have major clinical implications in humans.

Gerstmann-Sträussler-Scheinker syndrome masquerading as multiple sclerosis.

Gerstmann-Sträussler-Scheinker syndrome (GSS) is a rare degenerative disorder of the central nervous system that belongs to the family of human spongiform encephalopathies, or prion diseases. GSS is almost always inherited and mostly carried in an autosomal dominant pattern. Nevertheless, GSS is genetically and phenotypically heterogeneous; among the different prion diseases GSS has the longest clinical course thereby has the potential to mimic the clinical course of different neurological disorders.

Approach to the patient with recurrent infections.

Children with a history of recurrent or unusual infections present a diagnostic challenge. Differentiation between frequent infections caused by common risk factors, versus primary immune dysfunction should be based on a detailed history and physical examination and, if indicated, followed by appropriate laboratory studies. A high index of suspicion could lead to an early diagnosis and treatment of an underlying immune deficiency disease.

Clinical and investigational considerations for the use of IGIV therapy.

Purpose: Clinical uses of immunoglobulin intravenous (IGIV) therapy for a number of autoimmune and inflammatory diseases are discussed, as well as the probable mechanisms by which IGIV exerts its immunoregulatory and antiinflammatory actions. Case studies are also presented to examine practical considerations in the selection of IGIV products for patients at risk for adverse events.

Summary: At present, the Food and Drug Administration has approved IGIV for use in six conditions, including replacement therapy for patients with antibody-deficiency disease, adjunct therapy in patients with poor antibody-producing capabilities, prophylaxis against certain types of infections, and several autoimmune disorders, including idiopathic thrombocytopenic purpura and Kawasaki disease.

Opposing effects of polyadenylation on the stability of edited and unedited mitochondrial RNAs in Trypanosoma brucei.

Mitochondrial RNAs in Trypanosoma brucei undergo posttranscriptional RNA editing and polyadenylation. We previously showed that polyadenylation stimulates turnover of unedited RNAs. Here, we investigated the role of polyadenylation in decay of edited RPS12 RNA.

Construct validity and frequency of euphoria sclerotica in multiple sclerosis.

Using the Neuropsychiatric Inventory (NPI), we studied euphoria and other behavioral changes in 75 consecutive, unselected multiple sclerosis (MS) patients and 25 healthy controls. We also assessed disease duration, clinical course, physical disability, personality, depression, insight, cognition, and caregiver distress. Factor analysis identified a cluster of symptoms--labeled euphoria/disinhibition--similar to the euphoria sclerotica syndrome originally described by Charcot and others.

Role of cytokines in nasal polyposis.

Chronic hyperplastic sinusitis and nasal polyposis (CHS/NP) is associated with significant morbidity. The response to medical treatment is often unsatisfactory, and surgery often provides only temporary relief. The genesis and pathophysiology of polyps are poorly understood.

Expression and regulation of nuclear retinoic acid receptors in human lymphoid cells.

Retinoids are known to play an important role in cellular growth and differentiation and more recently in the immune response. Our laboratory has previously shown that all-trans-retinoic acid (atRA) augments immunoglobulin synthesis of cord blood mononuclear cells by enhancing the synthesis of certain cytokines. Transcriptional regulatory elements, the retinoic acid nuclear receptors (RAR), could mediate the RA-induced regulation of genes, e.

Primary immunodeficiency disorders: antibody deficiency.

As a group, antibody deficiencies represent the most common types of primary immune deficiencies in human subjects. Often symptoms do not appear until the latter part of the first year of life, as passively acquired IgG from the mother decreases to below protective levels. As with the T-cell immune deficiencies, the spectrum of antibody deficiencies is broad, ranging from the most severe type of antibody deficiency with totally absent B cells and serum Igs to patients who have a selective antibody deficiency with normal serum Ig.

Survival benefit of extended D2 resection for proximal gastric cancer.

Background: The long-term survival of patients with adenocarcinoma of the proximal stomach remains dismal. Despite its increasing frequency and poor prognosis, a general consensus has not been reached on the extent of surgical resection. The significance of extended lymph node dissection (D2 gastrectomy) for the surgical treatment of patients with proximal gastric cancer was evaluated.

Electrically induced changes in Ca2+ in Helisoma neurons: regional and neuron-specific differences and implications for neurite outgrowth.

The present experiments addressed the questions of how electrical stimulation influenced the magnitude, time course, and regional levels of free intracellular calcium of different identified neurons. The calcium concentration in the growth cones, neurites and cell bodies of Helisoma buccal neurons B4 and B19 was measured while somata were electrically stimulated via an intracellular electrode. The findings showed that calcium levels in B4 and B19 increased monotonically with increasing stimulation frequency.