Kornimate/medical-research-clean huggingface dataset:
metabolomic exploration of dysregulated lipid metabolism in mfn2-related cmt2a (metadlm_cmt2a)

Conditions: Charcot-Marie-Tooth Disease Type 2A

Summary: charcot-marie-tooth (cmt) disease is the commonest sensitivo-motor inherited peripheral neuropathies with a prevalence of about 10-30 per 100,000. to date, more than 80 genes have been found responsible for cmt. some of these genes code for mitochondrial proteins such as mitofusin 2 (mfn2). in the last few years, our laboratory has developed strong expertise in metabolomics. the metadlm_cmt2a project proposes to produce metabolomic and lipidomic maps in cmt2a plasma from a cohort of genetically and clinically characterized patients with a national recruitment. in the perspective of future clinical trials, these biomarkers and the better understanding of lipid metabolism defects in cmt2a would be of major interest in monitoring the evolution of the disease and developing specific therapeutic approaches.


Eligibility criteria:
inclusion criteria: for all participants : * adult person * person on an empty stomach at the time of inclusion * person who signed the study participation consent form * person affiliated or beneficiary of a social security scheme patients charcot-marie-tooth : * patient with symptoms of charcot-marie-tooth disease on clinical examination clinical examination * patient with axonal neuropathy confirmed by an electrophysiological study electrophysiological study with a median nerve conduction velocity \> 38 m / s * patient with documented pathogenic mutation (class 4 or class 5) in the mfn2 or patient with a variant of uncertain significance, as determined by the laboratory performing the test, if the variant of unknown significance has been found in found in multiple affected individuals in a family and not found in unaffected family members in unaffected family members. control subject : * each control is matched in age and sex to a case previously included in the study. exclusion criteria: for all participants : * pregnant, breastfeeding or parturient woman * person deprived of liberty by judicial or administrative decision * person subject to forced psychiatric care * person subject to a legal protection measure * person unable to give consent patients charcot-marie-tooth : * patient with a neuropathy other than cmt2a (such as diabetic neuropathy or any other cause of acquired neuropathy) neuropathy or any other cause of acquired neuropathy), medical history of kidney stones kidney stones or cardiovascular risk factors (dyslipidaemia diabetes, severe obesity (bmi \>35 kg/m²)) * patient treated with idebenone at the time of inclusion. (it is possible to include a patient treated with idebenone if the treatment was interrupted at least 5 days before) control subject : * person with neuropathy, medical history of kidney stones or cardiovascular risk factors cardiovascular risk factors (dyslipidaemia, diabetes, severe obesity (bmi \>35 kg/m²))
buprenorphine in acute renal colic pain management

Conditions: Acute Pain Management; Renal Colic

Summary: the purpose of this study is to determine whether sublingual buprenorphine is as effective as iv morphine sulfate on pain control of the patients with acute renal colic in the emergency department.


Eligibility criteria:
inclusion criteria: * clinical diagnosis of acute renal colic; positive urinalysis of hematuria; pain score more than 3 in numerical rating score (nrs); patients sign the informed consent to enroll. exclusion criteria: * previous history of seizures; cardiovascular, hepatic, renal or metabolic diseases; * febrile patients (t \> 38°c); * hemodynamically unstable patients ( systolic blood pressure \< 90 mmhg); * pregnant patients; * patients with abdominal tenderness as a sign of peritoneal inflammation; * any clinical suspicion for diseases other than urolithiasis like abdominal aortic aneurysm or dissection; * patients with a history of drug addiction or known allergy to opioids; * patients who had used analgesics 6 hours before arriving.
intervention in informal caregivers who care older people after a stroke: a pilot study in northern portugal

Conditions: Cerebrovascular Disorder

Summary: background: more than 42% of older people (aged +65) have a stroke and most of them require some type of help to self-care at home. informal caregivers have reported different types of need and have shown dissatisfaction with technical and emotional support delivered by community health teams. furthermore, empowering informal caregivers who care after older stroke survivors is an important challenge, preventing them from negative outcomes such as burden, anxiety and depression or loss of physical function or hospitalization in older people. objectives: this pilot study aims to implement and evaluate the impact of an intervention based on training and telephone support delivered to informal caregivers who care after older people post-stroke. setting: community health units in northern portugal region. design/methods: this single blinded randomized trial will be delivered by a community nursing team to informal caregivers 1 week, 1 and 3 months after a hospital discharge. study outcome(s): the primary outcomes will be informal caregivers´ empowerment. secondary outcomes will include burden and health quality of life in caregivers; functionality, hospital readmission and institutionalization of older people stroke survivors, measured 1 and 3 months after intervention. results/conclusion: data collection started in february and will be concluded in august 2014. first results will be published at the beginning of 2015. the incare programme will be the first pilot in informal caregivers study ever conducted in portugal. it will highlight new ways to support caregivers who take care of older people after a stroke. if successful, this study will be translational and it will also allow to disseminate the results in portugal and abroad and implement it as best practice.

incare study has a purpose to implement and evaluate an intervention delivered to informal caregivers who care for older people after a stroke.

Eligibility criteria:
inclusion criteria: informal caregivers are eligible to participate in the incare programme if they meet the following inclusion criteria: (i) to be able to communicate and learn (2) not to have a cognitive disease; (3) to live in the cávado region covered by aces i, ii and iii; (4) to return the informed consent. in addition, older stroke survivors will enter in this study if they had a stroke for the 1st time and which have become dependent for activities of daily living. - exclusion criteria: involvement in the incare programme requires to communicate frequently, face to face or on the phone, with the nursing staff. informal caregivers will also be excluded in all the situations in which the provision of older people care is taken by formal support.

Keywords: stroke elderly caregivers empowerment self-care pilot study
electrophysiological evaluation of voluntary attention

Conditions: Brain Injury

Summary: aim : to assess the ability of healthy subjects and patients with a severe motor disability to voluntary control their attention material and methods: population: healthy subjects, patients with brain injury electroencephalographic study to research attentional modulation during different kind of stimulation (visual, auditory, tactile) sudy 1: passive recording. study 2: active recording (instruction of attentional control given to the subject). study 3: active recording with a feedback obtained after a processing of the brain activity.


Eligibility criteria:
inclusion criteria: inclusion criteria for patients : * adults, man or woman, left or right-handed, from 18 years old to 80 years-old ; * diagnosis : * locked-in syndrome : \< brainstem injury, without any evolution for at least 3 week, etiology : vascular, traumatic \< amyotrophic lateral sclerosis \< following damage to the central or peripheral nervous system * or minimal conscious state or unresponsive wakefulness syndrome consecutive to a severe acquired brain injury for at least one month * or with a severe brain injury, since birth or acquired, for at least one month * or with guillain-barré syndrome * subjects affiliated to social security; * signature of consent form by the patient or by a relative (family member or "the trusted person") if obtaining a consent is impossible inclusion criteria of healthy subjects * adults, man or woman, left or right-handed, from 18 years old to 80 years-old ; * without known auditory impairment * subjects able to understand the experimental instructions * subjects affiliated to social security; * signature of consent form exclusion criteria of patients and healthy subjects * medical history : psychiatric disorders (except if due to brain injury), neurologic disorders (except if due to brain injury) * for healthy subjects : history of brain injury * pregnant women or breastfeeding women * person under legal protection * medico-legal conflicts * absence of consent by the subject or the patient or his/her representant

Keywords: voluntary attention electroencephalogram brain-computer interface disorders of consciousness
dual task training in spastic cerebral palsy

Conditions: Cerebral Palsy

Summary: this study aims to investigate the effects of dual task training on gait and balance parameters, gross motor function skills, functional mobility skills, functional independence levels and health-related quality of life o in children with spastic diplegic cerebral palsy. the clinical study's hypothesis is the dual task training programs are superior to conventional physiotherapy programs to improve the parameters in spastic diplegic cerebral palsy.

in this self-controlled study, children with spastic diplegic cerebral palsy, aged 7-16, who were at level 1 or 2 according to the gross motor function classification system, scored 27 and above from the modified mini mental test were included. children are recruited to the routine physiotherapy program 45 minutes 2 days a week for 8 weeks, and in addition to the routine physiotherapy program dual task training program 45 minutes 2 days a week for the next 8 weeks. the children will evaluate at baseline, after the routine physiotherapy program and after the dual task training program. children will be evaluate with gross motor function measurement-88,modified ashworth scale , gait platform, edinburgh visual gait score, pediatric berg balance scale,1 minute walk test, functional independence measure, pediatric quality of life inventory tm-cerebral palsy module.

Eligibility criteria:
inclusion criteria: * having been diagnosed with spastic diplegic cerebral palsy, * being at level 1 or 2 according to the gross motor function classification system, * being at level 1 according to communication function classification system, * to adapt to the evaluations, * to get 27 points or above from the modified mini mental test (mmmt). exclusion criteria: * having had injuries such as strains, sprains or fractures of the lower extremity in the last six months, * having undergone a surgical intervention or botulinum toxin in the last six months, * having any known chronic systemic problems, * having uncontrollable seizures, * having vision or hearing problems.

Keywords: cerebral palsy dual task training gait balance
study of ixabepilone in asian subjects with unresectable or metastatic gastric cancer

Conditions: Stomach Neoplasms

Summary: the purpose of this study was to determine whether ixabepilone is effective in the treatment of unresectable or metastatic gastric cancer in asian participants.


Eligibility criteria:
inclusion criteria: * histologically confirmed gastric carcinoma originating from the stomach or gastroesophageal junction * must have unresectable or metastatic disease * asian ethnicity * must have failed prior fluoropyrimidine-based chemotherapy * eastern cooperative oncology group (ecog) performance status of 0-1 * measurable disease by with response evaluation criteria in solid tumors (recist) guidelines exclusion criteria: * \>1 prior chemotherapy regimen in the metastatic setting or \>2 prior chemotherapy if subject also received adjuvant therapy * receipt of prior ixabepilone * ecog ≥2 * known brain or meningeal metastasis * known viral hepatitis * prior taxane therapy * uncontrolled non-cancer related medical condition * second malignancy * peripheral neuropathy ≥ grade 2 * inadequate hematologic, renal and hepatic function
avapritinib rollover study

Conditions: Mastocytosis, Systemic

Summary: the primary objective of the rollover study is to evaluate the long-term safety of avapritinib in participants who have completed a blueprint medicines sponsored study (parent study) and continued to benefit from avapritinib.


Eligibility criteria:
inclusion criteria: * participated in a blueprint medicines sponsored avapritinib clinical study. the sponsor reserves the right to not roll over patients who have been on drug hold for an extended time period. * completed end of trial / end of study (eot/eos) visit in the parent study and demonstrated compliance with the parent study requirements. * continue to clinically benefit from treatment with avapritinib. * able to give written informed consent. * agree to continue to use highly effective contraception as defined in this protocol. * female patients of childbearing potential must have negative highly sensitive serum pregnancy test within 20 days before the first dose of avapritinib. women of nonchildbearing potential do not require this test. exclusion criteria: * participant is participating in another interventional study. * participant is unwilling or unable to comply with study procedures and study restrictions. * participant is breastfeeding. other protocol-defined criteria apply.

Keywords: indolent systemic mastocytosis ism advanced systemic mastocytosis advsm rollover study
a population-based cohort of osteoarthritis: the tsinghua university tiantongyuan community osteoarthritis study

Conditions: Osteoarthritis

Summary: the purpose of this study is to examine the natural history and risk factors of osteoarthritis (oa) and to explore the relationship between metabolic factors and oa progression.

1. to investigate the natural history of osteoarthritis (oa) in a large-sample cohort. 2. to identify oa phenotypes and their relationship with clinical symptoms and functional impairment. 3. to analyze metabolic factors (e.g., obesity, diabetes, and hypertension) as risk factors for oa onset and progression. 4. to evaluate the association between radiographic changes and oa symptoms. 5. to develop predictive models for oa progression and identify high-risk individuals for early intervention. design: this is a prospective cohort study. participants: the study will recruit approximately 4,000 individuals aged 50 years and above. participants will undergo baseline assessments, including demographic data collection, medical history, dietary evaluation, physical examination, blood sample collection, and radiographic imaging. annual follow-ups will be conducted over 10 years to monitor oa progression and related risk factors.

Eligibility criteria:
inclusion criteria: * aged 50 years and above * long-term resident of the study area * willing to participate and provide informed consent exclusion criteria: * hearing, speech, or mental impairments preventing effective communication * unable to complete scheduled follow-up visits * pregnant or planning pregnancy during the study period * any other condition deemed unsuitable for participation by the researchers
multicenter sous vide frostbite

Conditions: Frostbite; Frostbite of Hand; Frostbite of Foot

Summary: the purpose of this study is to determine the efficacy of using sous vide devices for heating and maintaining the circulating warm water bath used in the rewarming of acute frostbite.

frostbite can be a devastating and limb threatening injury. treatment involves active rewarming in a warm water bath at a consistent temperature, but maintaining the correct temperature water is clinically challenging. currently these water baths are created and monitored manually - leading to poor rewarming and inefficient use of resources. the "sous vide" device offers an alternative to the manual water bath method. the specific aim of our study is to evaluate the safety, efficacy, and feasibility of use of the sous vide device in patients with extremity frostbite in a multicenter prospective cohort. data demonstrating the ability of the sous vide device to warm and precisely maintain water bath target temperatures, in addition to expanded evidence of the safety of this modality, will support the broader use of sous vide devices in frostbite care.

Eligibility criteria:
inclusion criteria: * age 18 or up * age \<17 with parent or guardian consent * ability to understand english * ability to provide consent to the study * acute frostbite of the hands and/or feet exclusion criteria: * children under age 18 without parent or guardian * frostbite that has already thawed * frostbite of tissue other than hands or feet * inability to understand english * inability to provide consent
effect of ezetimibe on platelet aggregation and ldl tendency to peroxidation

Conditions: Hypercholesterolemia

Summary: the aim of our study is to estimate the reduction of ldl by ezetimibe in hypercholesterolemic patients on simvastatin.investigate the effect of ldl lowering by ezetimibe on platelet activity and ldl tendency to peroxidation in hypercholesterolemic patients on simvastatin therapy the hypothesis is that: 1. ldl lowering by ezetimibe on-top of simvastatin in patients on fixed dose of simvastatin can reduce platelet aggregation, due to the potential decreasing of cholesterol content in the platelet membranes. 2. ldl lowering by ezetimibe can lower ldl tendency to peroxidation.


Eligibility criteria:
inclusion criteria: 1. hypercholesterolemic patients on stable simvastatin dose for at least one month. 2. age ≥18 years on stable aha step 1 diet. 3. patients without chd or with one risk factors ; ldl \> 130 mg/dl and for patients with chd or chd risk equivalent(clinical manifestations of non-coronary forms of atherosclerotic disease) or with 2 risk f actors (cigarette smoking, hypertension (bp ≥140/90 mm hg or on antihypertensive medication), low hdl cholesterol (\ 100 mg/dl 4. patients 'on at least simvastatin treatment of 20 mg per day. 5. cpk, alt and ast \< 1.5 x upper limit of normal at baseline. exclusion criteria: 1. women currently receiving cyclical hormones. 2. treatment with psyllium, other fiber based laxatives, phytosterol margarines, or other otcs that affect serum lipids, unless treated with a stable regimen for \> 6 weeks and the patient agrees to continue this regimen for the duration of the trial. 3. oral corticosteroids unless used as replacement therapy for pituitary/adrenal disease and a stable regimen for at least 6 weeks. 4. lipid lowering agents including fish oils and questran taken within 6 weeks. 5. active coronary heart disease: unstable angina, acute myocardial infarction, cabg or ptca within the last 3 months. 6. women with childbearing potential unless on safe contraception. 7. psychiatric disease with defect in judgement. 8. severe renal or hepatic disease. 9. uncontrolled hypo- or hyperthyroidism. 10. contraindication for ezetimibe or simvastatin treatment. the patients will continue on their treatment with simvastatin for 6 weeks, and then the patients will be treated by the same dose of simvastatin combined with ezetimibe 10 mg/day for other 6 weeks.
evaluating an interactive cancer communication system (iccs) in lung cancer

Conditions: Lung Cancer, Stage IIIb or IV

Summary: this study will examine the potential for an interactive cancer communication system (iccs) to impact not only psychosocial outcomes such as quality of life but also length of survival in an advanced stage lung cancer population. two hypotheses will be tested: the comprehensive health enhancement support system- lung cancer (chess- lc) will significantly improve patient quality of life and length of overall survival as compared to a usual care control group.

the prognosis for non-small cell lung cancer patients remains poor despite recent advances in anti-cancer therapies. a lung cancer diagnosis often inflicts fear, despair, and hopelessness on patients and loved ones. for lung cancer patients in particular, a population where palliation rather than cure is often the focus, interventions addressing communication about various types of suffering are crucial to quality of life (qol). our center has done extensive research testing chess (comprehensive health enhancement support system), a non-commercial, web-based information and support system. the recent clinician integration project tested the impact of chess versus an internet only control group on qol for caregivers of advanced stage lung cancer patients. this study yielded an unanticipated finding that chess may have a survival benefit for patients as one year survival was significantly increased in the chess group (50%) compared to internet (34.2%). as this project did not focus on patient outcomes, follow-up with a well-formulated study designed and powered to address specific hypotheses of the nature of this effect is critical. the proposed study will specifically test qol and survival effects of chess on lung cancer patients. using sites in wisconsin, connecticut,houston, and chicago, we will randomly assign 376 advanced lung cancer patients to two study arms: a patient control group receiving usual care (including access to a computer and internet) and a group given access to the chess website. patients may invite a caregiver to participate. patients will be followed for 18 months or until patient death.

Eligibility criteria:
inclusion criteria: * all patients must be diagnosed with non-small cell lung cancer (stage iiia non surgical, iiib or iv) * all patients must be within 12 months of their primary lung cancer diagnosis or metastatic or recurrence disease. * all patients must be at least 18 years of age, * all patients must have an ecog performance status rating of level 0, 1 or 2. * if patients have brain metastases, they must be stable * all patients must be under the care of a clinician who has consented to participate in the study. * all patients must be able to speak and read english (educational attainment of at least 6th grade). * all patients will be invited to have a caregiver also participate in the study, however this is not required.

Keywords: lung cancer quality of life communication with physician