Kornimate/medical-research-clean huggingface dataset:
study of a large family with congenital mirror movements : from underlying pathophysiology to culprit gene identification projet " momic "

Conditions: Healthy

Summary: mirror movements are involuntary, symmetrical and simultaneous movements occurring on one side of the body that accompany controlateral voluntary movements. congenital mirror movements (cmm) are characterized by childhood onset and the absence of additional manifestations. the aim of this study is to unravel the pathophysiology of the cmm that remains poorly elucidated. the combination of imaging studies and neurophysiological studies using transcranial magnetic stimulation in a homogeneous and relatively large group of patient is likely to allow us to better understand the underlying pathophysiology of the disorder. using a linkage analysis approach we will try to identify a locus associated with cmm and related candidate genes.


Eligibility criteria:
inclusion criteria: * patients aged from 11 to 82 years * members of the family of interest displaying mirror movements or being obligatory asymptomatic carrier, without additional manifestation or malformation; or patient with genetically proven kallmann syndrome and mirror movements. * no contraindication for mri or tms study exclusion criteria: * inability to provide an informed consent * simultaneous participation in another clinical trial * treatment that modulate cortical excitability (for the tms part of the study only)

Keywords: congenital mirror movement, physiopathology, imaging, transcranial magnetic stimulation, candidate gene
a study of ro6870810/ten-010 in participants with acute myeloid leukemia and myelodysplastic syndrome

Conditions: Acute Myeloid Leukemia; Myelodysplastic Syndromes

Summary: ro6870810 (formerly ten-010) is a small molecule, bromodomain and extra-terminal (bet) bromodomain inhibitor. this study is designed to characterize the safety, tolerability, and pharmacokinetics of ro6870810 monotherapy in participants with relapsed/refractory acute myeloid leukemia (rr-aml) and hypomethylating agent (hma)-refractory myelodysplastic syndrome (mds). the study will consist of a screening period, treatment period, and post-treatment period. a standard 3+3 design will be used in which successive cohorts of three or more participants with rr-aml or hma-refractory mds will be treated at escalating doses until a maximum tolerated dose (mtd) is identiﬁed. up to 51 adult participants with aml or mds will be enrolled in the study.


Eligibility criteria:
inclusion criteria: * rr-aml * relapsed/refractory mds * participants with a history of allogeneic stem cell transplant are eligible for study participation provided the following eligibility criteria are met: 1. transplant was more than (\>) 100 days prior to study enrollment 2. participant has not taken immunosuppressive medications for at least 2 weeks 3. no signs or symptoms of graft versus host disease other than grade 1 skin involvement 4. no active infection * eastern cooperative oncology group performance status score equal to or less than (\<=) 2 * life expectancy of at least 2 months * disease-free of active second/secondary or prior malignancies for equal to or more than (\>=) 1 year with the exception of currently treated basal cell or squamous cell carcinoma of the skin, or carcinoma in-situ of the cervix or breast * adequate hematological, renal, hepatic and coagulation laboratory test results * women of childbearing potential and men must agree to use adequate contraception from 28 days prior to the first dose of the study drug, during the entire treatment period, and for at least 28 days after the last dose of the study drug exclusion criteria: * new york heart association class iii or iv cardiac disease, myocardial infarction within the past 6 months, unstable arrhythmia * have fridericia-corrected qt interval \> 470 milliseconds (msec) (female) or \> 450 msec (male), or history of congenital long qt syndrome * uncontrolled bacterial, viral, or fungal infections * known clinically important respiratory impairment * positive for human immunodeficiency virus, hepatitis b surface antigen, or hepatitis c antibodies * history of major organ transplant * symptomatic central nervous system disease, malignancy, or metastasis * pregnant or nursing * concomitant chemotherapy, radiation therapy, immunotherapy, biologic therapy, or hormonal therapy * treatment with surgery or chemotherapy within 21 days prior to study entry * prior treatment with small molecule bromodomain and extra terminal family inhibitor * radiation for symptomatic lesions within 14 days of study enrollment * active substance abuse
investigating memory and physical activity after cancer treatment in survivors of adolescent and young adult cancers

Conditions: Hematopoietic and Lymphatic System Neoplasm; Malignant Solid Neoplasm

Summary: this study evaluates relationships among physical activity, thinking, and memory after cancer treatment in survivors of adolescent and young adult cancers.


Eligibility criteria:
inclusion criteria: * adults (aged 18+ years) * primary diagnosis of cancer when 15-39 years-old * access to a desktop computer or laptop with reliable internet access * no gross motor impairments that prohibit ambulation * willing to complete study requirements * english speaking exclusion criteria: * diagnosed with nonmelanoma skin cancer only * not diagnosed with cancer in adolescent and young adult (aya) age range of 15-39 years * scheduled travel during the study period that is not indicative of individual's normal schedule

Keywords: cancer adolescent young adult cognition memory exercise physical activity
prevalence of genetic polymporphism on rnf213 rs112735431 gene in non-cardioemboli ischemic cerebrovascular disease

Conditions: Ischemic Stroke

Summary: to explore the prevalence of genetic polymorphism on rnf213 rs112735431 gene in non-cardioembolic ischemic cerebrovascular disease in thai patients.

this is an cross-sectional observational study in chulalongkorn hospital, to determine the prevalence of genetic polymorphism on rnf213 rs112735431 gene in non-cardioembolic ischemic cerebrovascular disease. patients who are potentially eligible for study participation will be identified through a chart review of patients who were admitted in chulalongkorn hospital for acute ischemic stroke treatment.

Eligibility criteria:
inclusion criteria: * nationality in thailand * age equal or more than 18 years * clinical and imaging diagnosis of acute ischemic stroke * patient consent to participate in the research exclusion criteria: * high risk for cardioembolic stroke by toast classification * contraindication for venipuncture * pregnancy or breast feeding patient * history of head and neck radiation * down's syndrome * marfan syndrome * autoimmune disease such as sle * ongoing malignancy or remission of malignancy less than 1year

Keywords: rnf213 rs112735431 gene acute non-embolic ischemic stroke
family-centered behavioral preparation for surgery

Conditions: Anxiety

Summary: children experience significant anxiety and distress during the preoperative period. currently available interventions are ineffective and/or associated with significant disadvantages. these interventions exclusively target the child and do not attempt to reduce parental anxiety. based on an integration of the literature in both the anesthesia and psychological milieus, we developed advance, a behaviorally oriented anxiety reduction program for children undergoing surgery that targets the family as a whole.

children and their parents (n=408) were randomly assigned to one of four groups: 1) control: received standard of care, 2) ppia: received standard parental presence during induction of anesthesia, 3) advance: received family-centered behavioral preparation, and 4) oral midazolam. we assessed the effect of group assignment on anxiety levels and postoperative outcomes.

Eligibility criteria:
inclusion criteria: * children 2-10 years old who were in good health (american society of anesthesiology physical status i-ii) and who were undergoing general anesthesia and elective, outpatient surgery, and their parents. exclusion criteria: * children with a history of chronic illness, prematurity (fewer than 36 weeks gestation) or reported developmental delay

Keywords: children anxiety behavioral preparation family surgery parents
safety and tolerability of gate-251 in normal human volunteers

Conditions: Major Depressive Disorder

Summary: to evaluate the safety and tolerability of single ascending doses of gate-251 in normal human volunteers

single ascending dose (sad), double-blind placebo-controlled study in normal human volunteers. secondary objectives: to evaluate the pharmacokinetics (pk) and eeg biomarker of target engagement of gate-251 following increasing single doses of gate-251. gate-251 or placebo: dose/mode of administration: single dose; oral

Eligibility criteria:
inclusion criteria: * agree to effective method of birth control * if female, negative pregnancy test at screening and day -1 * nonsmoking at least 2 years * bmi 18-30 * supine pulse rate 30-100 exclusion criteria: * known hypersensitivity to nmda receptor drugs * clinically significant disease in any body system * qtcf \> 430 ms in males, \>450 ms in females * positive test for hepatitis b or c * abnormal liver function tests on day -1 * history of alcohol or other substance abuse during the previous 5 years * positive drug screen at screening or day -1 * taken any medication within the past 14 days

Keywords: nmda receptor nmda receptor positive allosteric modulator pharmacokinetics biomarker eeg
pharmacokinetics and safety/tolerability after oral administration of ckd-387 and d635 in healthy adults

Conditions: Type2 Diabetes Mellitus

Summary: the purpose of the clinical trail is to evaluate the pharmacokinetics and safety/tolerability after oral administration of ckd-387 and d635 in healthy adults.


Eligibility criteria:
inclusion criteria: 1. healthy adults aged 19 to 55 years 2. females must be menopause or surgical infertility 3. signed informed consent form 4. other inclusion criteria, as defined in the protocol exclusion criteria: 1. history of clinically significant hepatic, renal, nervous, immune, respiratory, endocrine, hemato-oncology, cardiovascular systemic disease or psychosis disorder 2. clinical laboratory test values are outside the accepted normal range at screening * aspartate aminotransferase(ast), alanine aminotransferase(alt) \> 1.25 times the upper limit of the normal range * total bilirubin \> 1.5 times the upper limit of the normal range * creatine phosphokinase(cpk) \> 1.5 times the upper limit of the normal range * estimated glomerular filtration rate(egfr, mdrd\* formula) \< 60 ml/min/1.73m2 (\*mdrd: modification of diet in renal disease) * positive reaction on following tests: hepatitis b, hepatitis c, human immunodeficiency virus(hiv) and syphilis * systolic blood pressure(sbp) ≥ 150 mmhg or \ 100 mmhg or \< 50 mmhg 3. subject who smoke heavily or drink caffeine or alcohol continuously and who cannot discontinue smoking, caffeine or alcohol intake during hospitalization 4. participated in a clinical trial within 90 days prior to 1st ip dosing 5. not eligible to participate for the study at the discretion of investigator 6. other exclusive inclusion criteria, as defined in the protocol
impact of the persistence of inflammation at doppler ultrasound level on the structural evolution of erosion in rheumatoid arthritis treated with biotherapy

Conditions: Rheumatoid Arthritis

Summary: since biological disease-modifying anti-rheumatic drugs (bdmards) are available in rheumatoid arthritis (ra) strategy an emerging question is the definition of remission in ra. today some criteria were already proposed and the last one was proposed in 2011. all these criteria integrated only clinical criteria without imaging assessment. in this context, ultrasound joint is daily performed without definition of remission. a discrepancy exists between clinical remission and persistence of active disease with ultrasound joint presence of a doppler effect indicating inflammation and the risk of progression of joint damage. a definition of remission in ra could include erosions regression in subchondral bone (at best measured by high resolution peripheral quantitative computed tomography (hr-pqct)). the main hypothesis is that the reduction of erosion size assessed by hr-pqct will be observed only in the absence of local inflammation measured by doppler ultrasound in the erosion. tumor necrosis factor (tnf) blockers have strongly improved ra therapy outcome in terms of clinical improvement and structural damage (progression of radiographic lesions). recent data showed that there could be joint bone rebuilt in case of inflammation suppression. hr-pqct is a new technique emerging for bone erosions assessment in ra. erosions size and volume could be reduced with anti-tnf, but with a large interindividual variability. there was no correlation between the activity of clinical or ultrasound synovium and evolution of erosion hr-pqct.


Eligibility criteria:
inclusion criteria: * initial medical examination performed, * ra diagnosis according to the criteria of the acr / eular 2010 * low or moderate disease activity with a das28 ≤ 4 since at least for 6 months * patients with bdmards (remicade®, enbrel®, humira®, cimzia®, simponi®, ro-actemra®, ou orencia®) since at least 6 months and no change planned by the investigator, * patient with at least one erosion on the head of the 2nd or 3rd metacarpal right or left, * stable corticosteroids dose since at least 3 months less than or equal to 10 mg of prednisone equivalent, * medical care and monitoring in the rheumatology department of the chu of saint-etienne or the edouard herriot hospital in lyon, * written consent of patient exclusion criteria: * other diagnosis than ra, * intravenous or intra-articular injection at the 2nd or 3rd metacarpophalangeal left or right during the 3 months prior to inclusion, * surgery provided at the 2nd or 3rd metacarpophalangeal right or left within a year of inclusion, * concomitant treatment with zoledronic acid (aclasta) or denosumab (prolia®) * refusal of blood collection, * pregnancy or breastfeeding women,

Keywords: rheumatoid arthritis bdmards biotherapy remission erosion
long term safety of tobramycin inhalation powder in patients with cystic fibrosis

Conditions: Pulmonary Infections; Pseudomonas Aeruginosa in Cystic Fibrosis

Summary: this study assessed the long term safety data for the use of tobramycin inhalation powder in patients suffering from cystic fibrosis who have a chronic pulmonary infection with pseudomonas aeruginosa.


Eligibility criteria:
inclusion criteria: * confirmed diagnosis of cystic fibrosis * fev1 at screening must be between 25 and 75 percent of normal predicted values for age, sex and height based on the knudson equation * pseudomonas aeruginosa must be present in a sputum / deep cough throat swab culture or bronchoalveolar lavage within 6 months prior to screening and in the sputum/deep-throat cough swab culture at screening exclusion criteria: * history of sputum culture or deep cough throat swab culture yielding burkholderia cenocepacia complex within 2 years prior to screening and /or sputum culture yielding burkholderia cenocepacia at screening * hemoptysis more than 60ml at any time within 30 days prior to study drug administration * history of hearing loss or chronic tinnitus deemed clinically significant * serum creatinine 2mg/dl or more, bun 40mg/dl or more, or an abnormal urinalysis defined as 2+ or greater proteinuria at screening * known local or systemic hypersensitivity to aminoglycosides or inhaled antibiotics * patients who are regularly receiving more than 1 class of inhaled anti-pseudomonal antibiotic * any use of inhaled or systemic anti-pseudomonal antibiotic within 28 days prior to study drug administration * use of loop diuretics within 7 days prior to study drug administration other protocol-defined inclusion/exclusion criteria may apply.

Keywords: tobramycin inhalation powder cystic fibrosis lung disease anti-bacterial agents
efficacy of core stabilization exercises in women with stress and mixed urinary incontinence

Conditions: Stress Urinary Incontinence

Summary: in our study, we aimed to evaluate the effects of core stabilization exercises added to traditional kegel exercises on incontinence and quality of life in women with stress and stress dominant mixed urinary incontinence.


Eligibility criteria:
inclusion criteria: 1. women between the ages of 18 - 55 2. diagnosis of stress and stress predominant mixed urinary incontinence 3. pelvic floor muscle strength ≥ 3 4. bmi ≤ 35 kg/m2 5. ≥ 1 complaint of urinary incontinence in the last month exclusion criteria: 1. pregnancy and postpartum first 6 weeks 2. other types of incontinence and stress type 3 incontinence 3. urinary tract infection 4. pelvic organ prolapse advanced stage (stage ≥ 2) 5. history of pelvic surgery or pelvic tumor 6. surgical treatment for urinary incontinence 7. history of serious systemic or neurological disease (severe cardiovascular disease, advanced copd, cvo and/or cancer, parkinson's etc.) 8. severe low back and/or pelvic pain

Keywords: stress urinary incontinence incontinence rehabilitation incontinence exercises core stabilization exercises
mechanisms of human plasticity in the human system

Conditions: Blindness; Cerebrovascular Accident; Spinal Cord Injury

Summary: the purpose of this study is to investigate the physiology associated with plasticity of the motor system. plasticity refers to the process by which neighboring brain cells assume the responsibilities of damaged or diseased brain cells. the mechanisms behind this process are unknown. however, researchers have several theories about how plastic changes take place. possible explanations include the growth of new connections between brain cells and the use of previously unused connections. researchers plan to use transcranial magnetic stimulation and drug intervention in order to determine the mechanisms responsible for specific types of plasticity. previous studies have shown that certain drugs can affect the mechanisms involved in these changes. by using one drug at a time, researchers plan to evaluate the role of each of several different mechanisms in brain reorganization.

the purpose of this study is to investigate the physiology associated with plasticity of the motor system seen in a number of different circumstances. techniques used will involve the combination of transcranial magnetic stimulation (tms) and pharmacologic interventions. we propose to use drugs judged to be safe, that either potentiate gaba related intracortical inhibition, change presynaptic release of excitatory aminoacids like glutamate, or decrease the activity of the nmda receptors (mostly antiepileptic drugs). if plastic changes expressed as larger motor maps or motor evoked potentials (mep) to tms are secondary to intracortical disinhibition, administration of a drug that potentiates intracortical inhibition may result in decreased plasticity and smaller motor maps or mep. this finding would then identify intracortical disinhibition as the mechanism responsible for this type of plasticity. similarly, if plastic changes decrease with a drug that inhibits release of excitatory aminoacids, or that antagonize the action of nmda receptors, the mechanism underlying plasticity is likely to be mediated by modulation in the release of excitatory aminoacids or activity in nmda-receptors. results from this study will then provide information about the relative involvement of intracortical disinhibition, modulation in the release of excitatory aminoacids, and role of nmda receptors in different settings of human plasticity.

Eligibility criteria:
must be over 18 years of age. must not have personal history of seizures, loss of consciousness, hypertension, psychosis, heart conditions or allergies to any of the drugs. women must not be nursing or pregnant. patients may have amputations, spinal cord injuries, blindness or large hemispheric lesions from stroke.

Keywords: plasticity use stroke spinal cord injury amputation intracortical inhibition
a clinical trial to investigate safety/tolerability and pharmacokinetics of da-1229_01 compared to co-administration of evogliptin 5 mg and metformin xr 1000 mg, and to evaluate the effect of food on the pharmacokinetics of da-1229_01 in healthy male volunteers

Conditions: Type 2 Diabetes Mellitus

Summary: this phase i clinical study is to evaluate the safety/tolerability and pharmacokinetics of da-1229_01 and to investigate the effect of food on the pharmacokinetics of da-1229_01 in healthy male volunteers


Eligibility criteria:
inclusion criteria: * age between 20 to 45, healthy male subjects(at screening) * body weight between 55kg - 90kg, bmi between 18.0 - 27.0 * fpg 60-125mg/dl glucose level(at screening) * volunteer who totally understands the progress of this clinical trials, make decision by his free will, and signed a consent form to follow the progress. exclusion criteria: * volunteer who has past or present history of any diseases following below.(liver including hepatitis virus carrier, kidney, neurology, immunology, pulmonary, endocrine, hematooncology, cardiology, mental disorder) * volunteer who had gi tract disease(crohn's disease, ulcer, acute or chronic pancreatitis) or surgery(appendectomy, hernioplasty are excluded) * volunteer who had drug(aspirin, antibiotics) hypersensitivity reaction * subject who already participated in other trials in 2 months * subject who had whole blood donation in 2 months, or component blood donation in 1 months or transfusion
additive effect of endonase on eradication rate of first line therapy for helicobacter pylori

Conditions: Gastric Ulcer Associated With Helicobacter Pylori

Summary: endonase, a kind of protease, is known to cause both extensive degradation of mucins and a reduction in mucus viscosity. as part of the search for more effective forms of therapy against h. pylori when it colonizes not only the surface of the surface mucosal cells but also the surface mucous gel layer covering the mucosal surface of the stomach. the investigators decided to investigate whether or not endonase might have additive effect of pronase on the efficacy of eradication therapy against helicobacter pylori.


Eligibility criteria:
inclusion criteria: male or female with 18 years or more of age without history of h. pylori eradication and 1. patients with h. pylori associated peptic ulcer in scar stage, or 2. non-ulcer dyspepsia patients with h. pylori infection exclusion criteria: 1. under 18 years, or 2. patients with a history of previous treatment of h. pylori infection, or 3. pregnant or breast feeding women, or 4. patients with severe renal, liver, or heart disease, or 5. patients with gastric malignancy, or 6. patients with a history of drug allergy or hypersensitivity, or 7. patients who had received treatment with antibiotics or proton pump inhibitors, h2 blocker, bismuth preparation, anticoagulant, ketoconazole, glucocorticoid during the 2 weeks preceding endoscopy

Keywords: helicobacter pylori eradication peptic ulcer