Mar 14th, 2014 - In this critical review, the authors appraise neuroimaging findings in bipolar disorder in emotion-processing, emotion-regulation, and reward-processing neural circuitry in order to synthesize the current knowledge of the neural underpinnings of bipolar disorder and provide a neuroimaging research road map for future studies. The authors examined findings from all major studies in bipolar disor...

Jan 31st, 2014 - Pulmonary hypertension (PH) is common in elderly patients, but a detailed analysis of the causes of PH in the elderly has not been performed. We hypothesized that pulmonary arterial hypertension (PAH) is rare in elderly patients and sought to describe the characteristics of these patients at a large referral center. Clinical and hemodynamic data were collected on consecutive patients ≥ 65 years...

Aug 25th, 2014 - Symptomatic orthostatic hypotension (SOH) and recurrent reflex syncope (RRS) can be disabling. Midodrine has been proposed in the management of patients with these conditions but its impact on patient important outcomes remains uncertain. We performed a systematic review to evaluate the efficacy and safety of midodrine in patients with SOH and RRS. We searched multiple electronic databases with...

Apr 17th, 2012 - Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr of GH treatment. Cognitive functioning was measured biennially by short forms of the WPPSI-R or WISC-R, depending on ag...

Aug 11th, 2010 - Adrenocortical carcinoma (ACC) is a rare, severe disease. Pregnancy-associated ACC has rarely been reported. We wished to evaluate the characteristics and prognosis of ACC diagnosed in patients during pregnancy or in the postpartum period, comparing them with those for ACC diagnosed in nonpregnant women. Clinical presentation, hormonal secretion, staging, survival, and obstetric data are report...

Apr 12th, 2010 - To develop a standardized clinical grading system for the management of patients with vernal keratoconjunctivitis (VKC) and to identify the risk factors associated with a worsened outcome of the disease, including decrease of visual acuity and ocular complications development. Retrospective cohort study. A total of 207 consecutive patients with VKC, referred to our Cornea and External Diseases ...

Oct 22nd, 2009 - Myasthenia gravis (MG), a neuromuscular disease mediated by anti-acetylcholine receptor (AChR) autoantibodies, is associated with thymic hyperplasia characterized by ectopic germinal centers that contain pathogenic antibody-producing B cells. Our thymic transcriptome study demonstrated increased expression of CCL21, a recruiter of immune cells. Accordingly, we are investigating its implication ...

Oct 8th, 2012 - Once thought to be a passive process of calcium accrual in arterial vascular beds, vascular calcification is considered to be a tightly regulated process mediated by osteoblast-like cells under the dys-regulated interplay of shear stress, metabolites, cytokines and transcription factors. Unfortunately, without effective medical interventions to prevent or regress vascular calcification, this pr...

Feb 11th, 2008 - This review highlights two groups of women with phenylketonuria (PKU) who are at risk of producing offspring with maternal phenylketonuria (MPKU) embryopathy: (I) those not yet diagnosed; (II) those lost to follow-up. The world literature is reviewed, including that published from the International MPKU Collaborative Study (MPKUCS) and evidence is presented to support our hypothesis that at lea...

Jul 22nd, 2013 - Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) is a progressive multisystem neuromuscular disorder. In addition to the skeletal muscle, the myocardium in the DMD/BMD patient is dystrophin deficient which results in a progressive cardiomyopathy. The myopathic myocardium poses significant risk of increased morbidity and mortality at the time of major surgical procedures. Careful ...

Feb 6th, 2012 - Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) in about 14% of incident cases. We assessed the frequency of the recently identified C9orf72 repeat expansion in familial and apparently sporadic cases of ALS and characterised the cognitive and clinical phenotype of patients with this ex...

May 11th, 2012 - Neuromyelitis optica and neuromyelitis optica spectrum disorders have been recently associated with the disease-specific autoantibody aquaporin-4, thought to be pathogenic. Identifying this antibody has allowed the clinical phenotype to be broadened. It is clear that some patients with similar clinical features do not have this antibody and may have a different condition with different outcomes...

May 20th, 2008 - We analyzed interleukin (IL) 12 and IL-23 production by monocyte-derived dendritic cells (mono-DCs). Mycobacterium tuberculosis H37Rv and zymosan preferentially induced IL-23. IL-23 but not IL-12 was efficiently induced by the combination of nucleotide-binding oligodimerization domain and Toll-like receptor (TLR) 2 ligands, which mimics activation by M. tuberculosis, or by the human dectin-1 li...

May 2nd, 2011 - To identify early clinical markers of neurologic involvement in mucopolysaccharidosis type II. A retrospective review of neurobehavioral standardized assessments of patients with mucopolysaccharidosis type II evaluated at the Program for Neurodevelopmental Function in Rare Disorders was completed. Patients were grouped based on the presence or absence of central nervous system (CNS) involvement...

Dec 17th, 2015 - Awake craniotomy (AC) has been used in increasing frequency in the past few decades. It has mainly been used for resection of intrinsic tumors, but also, rarely, for other pathologies. The vast majority of reports specific to one pathology, however, have focused on resection of low grade glioma in the awake setting. Tumors in eloquent areas have mainly been resected when the patient is awake fo...

May 15th, 2013 - Bronchiectasis is the outcome of a number of different airway insults. Very few studies have characterised the aetiology and utility of a dedicated screening proforma in adult patients attending a general bronchiectasis clinic. A prospective observational study of 189 bronchiectasis patients attending two centres in the North East of England over a two-year period was performed. The aetiology o...

Nov 30th, 2010 - Hypoxia and pheochromocytoma/paraganglioma have a long common history. Since the description, almost 40 years ago, of an increased incidence of head and neck paragangliomas in chronic hypoxia, discoveries on oxygen-sensing and on hereditary paraganglioma in the beginning of years 2000 provided the proof of concept of a strong link between these neuroendocrine tumors and the hypoxic pathway. It ...

Apr 9th, 2009 - 3,4-Diaminopyridine and pyridostigmine are widely used to treat Lambert-Eaton myasthenic syndrome (LEMS), either alone or in combination. 3,4-Diaminopyridine enhances the release of acetylcholine at the neuromuscular synapse, and pyridostigmine inhibits the degradation of this neurotransmitter. Although this could lead to a synergistic effect on neuromuscular transmission, no studies have compa...

Dec 16th, 2008 - Inclusion body myositis (IBM) is a progressive inflammatory skeletal muscle disease of unknown cause and without effective treatment. This article discusses existing literature, emphasizing disease mechanisms and models. In particular, it addresses limitations in the beta-amyloid-mediated theory of IBM myofiber injury, flawed rationales of animal models of this disease, and recent reports regar...

May 29th, 2012 - Recent studies have suggested the presence of cardiac atrophy as a key component of the pathogenesis of the postural orthostatic tachycardia syndrome (POTS), similar to physical deconditioning. It has also been shown that exercise intolerance is associated with a reduced stroke volume (SV) in POTS, and that the high heart rate (HR) observed at rest and during exercise in these patients is due t...