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This is an exploratory clinical investigation. The objectives of this study are to evaluate the safety, steady-state pharmacokinetics, and efficacy of metyrosine (Demser®) for the treatment of psychosis in patients with velocardiofacial syndrome (VCFS).
Allocation: Randomized, Control: Placebo Control, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Parallel Assignment, Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor), Primary Purpose: Treatment
VCFS International Center
Aton Pharma, Inc.
Published on BioPortfolio: 2014-08-27T03:13:33-0400
The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS). In oth...
The present study examined the effect of Montmorency tart cherry juice and capsules on functional and blood-based cardio-metabolic markers in humans with Metabolic Syndrome. Participants r...
A prospective, open-label phase 2 trial in metastatic pancreatic cancer subjects who have failed at least one line of any prior chemotherapy. The trial is designed to evaluate the of SM-88...
Gilles de la Tourette's syndrome is a childhood onset inherited neuropsychiatric disorder characterised by the presence of both multiple motor tics and one or more vocal tics (noises), wit...
Background: The present study aims to identify the mechanisms underlying the deficit in facial emotion recognition reported both in schizophrenia and the 22q11.2 deletion syndrome, and th...
The Effect of Magnesium and Vitamin E Co-Supplementation on Glycemic Control and Markers of Cardio-Metabolic Risk in Women with Polycystic Ovary Syndrome: A Randomized, Double-Blind, Placebo-Controlled Trial.
Data on the effects of magnesium and vitamin E co-supplementation on glycemic control and markers of cardio-metabolic risk of patients with polycystic ovary syndrome (PCOS) were collected. This invest...
A 49-year-old man presented with a 1-week history of right facial paraesthesia with blurred vision and diplopia. Examination was normal apart from reduced facial sensation. Following appropriate neuro...
Facial nerve paralysis is a debilitating condition. Bell's palsy and temporal bone trauma are common causes of acute facial palsy, with recurrent idiopathic paralysis and Melkersson-Rosenthal syndrome...
Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and ...
Noonan syndrome (NS; Mendelian Inheritance in Men (MIM) ♯163950) and related syndromes (Noonan syndrome with multiple lentigines (NS-ML, formerly called LEOPARD syndrome; MIM ♯151100), Noonan-like...
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes.
Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis.
Pain in the facial region including orofacial pain and craniofacial pain. Associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves. Conditions which feature recurrent or persistent facial pain as the primary manifestation of disease are referred to as FACIAL PAIN SYNDROMES.
Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).
Of all the types of Dementia, Alzheimer's disease is the most common, affecting around 465,000 people in the UK. Neurons in the brain die, becuase 'plaques' and 'tangles' (mis-folded proteins) form in the brain. People with Al...
Cardiology is a specialty of internal medicine. Cardiac electrophysiology : Study of the electrical properties and conduction diseases of the heart. Echocardiography : The use of ultrasound to study the mechanical function/physics of the h...