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Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms.
METHODS
We present a
Biliary dyskinesia (BD) is a motility disorder of the gallbladder that can result in right upper quadrant (RUQ) pain, nausea, vomiting, and diarrhea. Cholecystectomy is considered the standard of care for BD. Up to 23 per cent of pediatric patients who undergo surgery for BD have persistent symptoms
OBJECTIVE
The purpose of this study was to describe clinico-pathological characteristics in a group of children with motility disorders of the gallbladder and correlate the findings with cases receiving surgical treatment for gallstone during the same period.
METHODS
Retrospective chart analysis of
Biliary dyskinesia is defined as symptomatic biliary colic without cholelithiasis, and is diagnosed during cholescintigraphy by assessing gallbladder emptying with cholecystokinin (CCK) stimulation. Unfortunately, gallbladder emptying is not routinely assessed during cholescintigraphy in pediatric
A double-blind controlled study was undertaken to examine the value of phosphatidylcholine as a treatment for tardive dyskinesia (TD) in 19 psychiatric patients. All patients were maintained on their usual psychotropic medication throughout the entire study. In addition, they were given either
Study ObjectiveTo evaluate the long-term safety and tolerability of deutetrabenazine in patients with tardive dyskinesia (TD) at 2years.In the 12-week ARM-TD and AIM-TD studies, deutetrabenazine showed clinically significant improvements in Abnormal A 33-year-old Saudi woman presented with right hemiballismus of recent onset. Brain CT showed a left thalamo-subthalamic lesion which was thought initially to be a metastasis or a tuberculoma. The presence of severe subacute diarrhea, multiple lymphadenopathies and lymphopenia suggested an acquired
OBJECTIVE
We describe a child with severe generalized choreoathetosis and anti-N-methyl-d-aspartate receptor encephalitis after herpes simplex virus type 1 encephalitis. Recent evidence supports an autoimmune trigger for anti-N-methyl-d-aspartate receptor encephalitis following a viral infection.
OBJECTIVE
To characterize cholagenic diarrhea as a nosological entity with its specific features of etiology, pathogenesis, clinical picture and treatment.
METHODS
A total of 167 patients with chronic diarrhea (CD) participated in the trial. Of them, 25 patients have undergone resection of the small
BACKGROUND
Since the 1950's neuroleptic medication has been extensively used to treat people with chronic mental illnesses, such as schizophrenia. These may cause tardive dyskinesia (TD), abnormal, repetitive and involuntary movements, in up to 20% of those using the medication for longer than three
AFQ056 is a novel, selective metabotropic glutamate receptor 5 antagonist. This was a 13-week, double-blind, placebo-controlled study. Patients with Parkinson's disease and moderate-to-severe levodopa (l-dopa)-induced dyskinesia who were receiving stable l-dopa/anti-parkinsonian treatment and were
The majority of foreign gastroenterologists have their doubts whether there exist "undifferentiated" colitisis. They consider these to be a variant of the irritable bowel syndrome. We have examined 173 patients. Of these, 67 percent were less than 45 years of age with significant intestinal
Opicapone is a new catechol O-methyltransferase (COMT) inhibitor indicated for use as adjunct to levodopa therapy in patients with Parkinson's disease (PD) and motor fluctuations.To characterize the safety and tolerability of adjunct opicapone (25 and 50 The efficacy and safety of two dosages of tolcapone were compared in a 12-week crossover trial involving 118 nonfluctuating patients with PD on a stable dose of levodopa (L-Dopa). At trial onset, all patients received open-label tolcapone 100 mg three times daily for 4 weeks. At week 4, 116 eligible
Tolcapone is a catechol-ortho-methyl-tranferase (COMT) inhibitor that increases the L-DOPA half-life and the duration of effect in Parkinson's disease. We investigated the effect of tolcapone on the plasma catecholamine levels. We measured plasma catecholamines 2h after the first daily dose of