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Pàgina 1 des de 16 resultats
Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.
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BACKGROUND
Dystonia musculorum (Dstdt ) is a murine disease caused by recessive mutations in the dystonin (Dst) gene. Loss of dorsal root ganglion (DRG) sensory neurons, ataxia, and dystonic postures before death by postnatal day 18 (P18) is a hallmark feature.Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.
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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
Oromandibular dystonia and persistent psychiatric symptoms in extra-pontine myelinolysis.
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A 32 years female presented with gradually progressive dysarthria, dysphagia, oromandibular dystonia and mild generalized weakness. She had several episodes of acute psychotic behavior. She had abnormal saccadic eye movements, generalized hypertonia and exaggerated jerks in upper limbs. She was
Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations.
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Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with
[MEDICAL CANNABIS].
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The cannabis plant has been known to humanity for centuries as a remedy for pain, diarrhea and inflammation. Current research is inspecting the use of cannabis for many diseases, including multiple sclerosis, epilepsy, dystonia, and chronic pain. In inflammatory conditions cannabinoids improve pain
[Medical cannabis: the opportunity versus the temptation].
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The cannabis plant has been known to humanity for centuries as a remedy for pain, diarrhea, and inflammation. Current research has shown cannabis to be a useful remedy for many diseases, including multiple sclerosis, dystonia, and chronic pain. Cannabinoids are used to improve food intake in
Betamethasone-dixyrazine versus metoclopramide as antiemetic treatment in cancer chemotherapy.
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In a prospective randomized and double-blind cross-over study betamethasone-dixyrazine was compared with metoclopramide as antiemetic treatment in cisplatin and doxorubicin chemotherapy. Sixty-two consecutive patients without prior experience of chemotherapy entered the study and were followed
Metoclopramide versus metoclopramide and lorazepam. Superiority of combined therapy in the control of cisplatin-induced emesis.
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Sixty-four patients treated with cisplatin-containing regimens were entered into a randomized, double-blinded study examining the antiemetic efficacy of metoclopramide with and without lorazepam for control of cisplatin-induced emesis. Metoclopramide was administered to all patients at 2 mg/kg,
Tolcapone: a novel approach to Parkinson's disease.
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The pharmacology, pharmacokinetics, clinical efficacy, adverse effects, and dosage and administration of tolcapone are reviewed. Tolcapone is the first drug brought to market from the new class of selective and reversible inhibitors of catechol-O-methyltransferase. Tolcapone is indicated for use in
Risk assessment of patient falls while taking medications ordered in a teaching hospital.
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OBJECTIVE
to stratify prescribed medication in a fall risk scale, identifying subgroups of drugs and inpatient units with higher risk of falls.
METHODS
retrospective study on prescription order forms given by medical clinic, surgical clinic, and general intensive care unit. Risk factors under
Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children.
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OBJECTIVE
To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan.
METHODS
A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with
Lumateperone for the Treatment of Schizophrenia
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Introduction: Schizophrenia is a severe psychotic disorder that is diagnosed by the presence of hallucinations or delusions along with disorganized speech, disorganized thought, or negative symptoms that are present for at least six
[Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review].
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A case of 3-hydroxyisobutyryl-CoA hydrolase deficiency was reported, and its clinical features, gene mutation characteristics, and diagnosis and treatment were analyzed with reference to related literature. The patient aged 1 year and 6 months had developmental regression and paroxysmal dystonia
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
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The causative variant in a consanguineous family in which the three patients (two siblings and a cousin) presented with intellectual disability, Marfanoid habitus, craniofacial dysmorphisms, chronic diarrhea and progressive kyphoscoliosis, has been identified through whole exome sequencing (WES)
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
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Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, which is involved in bile acid synthesis. The CYP27A1 gene is located on chromosome
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