Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Application of dopamine agonists in the therapy of Parkinson's disease constitutes significant progress. The adverse effects of dopamine agonists in the treatment of this disease are caused by various action mechanisms and depend upon the composition and pharmacological characteristics of the drug, its impact upon the dopaminergic and non-dopaminergic receptors, as well as dosage and duration of treatment. The most important ones include: nausea and vomiting, orthostatic hypotonia, psychiatric syndromes, sleep disturbances, pleuropulmonary and retroperitoneal fibrosis, vasoconstrictive properties, oedema, hormonal disturbances, as well as dyskinesias. Knowledge of such adverse effects is necessary for each physician, although in Poland dopamine agonists are used in a minority of patients due to the significant costs of the treatment.
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PMID:[Adverse effects of dopamine agonists]. 1794 57

Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by a set of phenotypic traits, which include infantile hypotonia, short stature, and morbid obesity. Over the last 12 years, visible progress has been made in medical care management of PWS patients in Poland. Increasing awareness of the disorder in neonatal and paediatric care has led to early identification of the condition in neonates, followed by the institution of an appropriate dietary regime, introduction of physiotherapy, and early-onset recombinant human growth hormone (rhGH) treatment. Growth hormone (GH) therapy in Poland is conducted within the nationwide framework of the Therapeutic Programme: "Treatment of Prader-Willi Syndrome". The therapeutic interventions initiated in the paediatric centres need to be continued in multidisciplinary adult care settings. The main aim of PWS clinical management in adulthood is prevention of obesity and its comor-bidities, treatment of hormonal disorders, mental health stabilisation, nutritional guidance, as well as on-going physiotherapy. Integrated multidisciplinary therapeutic intervention is necessary if patients with such a complex genetic condition as PWS are to not only achieve an average life expectancy but also to enjoy higher quality of life.
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PMID:Management of Prader-Willi Syndrome (PWS) in adults - what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology. 3020 1

Congenital chloride diarrhoea is one of the rare causes of diarrhoea during infancy and it is infrequently reported throughout the world. It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait while rarely reported in Pakistan. Our patient was 7.5-month-old baby boy who presented with diarrhoea since neonatal period. He had consanguineous parents. On examination, baby had distended abdomen, hypotonia and hyporeflexia. Investigations revealed hypochloremic hypokalemic metabolic alkalosis. Urinary electrolytes were normal. Stool electrolytes revealed increased stool chloride excretion that confirmed our diagnosis of congenital chloride diarrhoea. Patient was treated with intravenous fluids and electrolyte replacement, followed by oral potassium and sodium replacement. He was also started on butyrate, cholestyramine and proton-pump inhibitors. He started gaining weight during his hospital admission and is being followed up in clinic.
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PMID:Congenital chloride diarrhoea. 3182