Kornimate/medical-research-clean huggingface dataset:
exploratory muscle biopsy assessment study in patients with late-onset pompe disease treated with alglucosidase alfa

Conditions: Pompe Disease (Late-Onset); Glycogen Storage Disease Type II (GSD II); Glycogenesis 2 Acid Maltase Deficiency

Summary: this is an open-label, multicenter study of participants with late-onset pompe disease naive to treatment with enzyme replacement therapy (ert). the primary objective of this study is to evaluate glycogen clearance in muscle tissue samples collected pre and post alglucosidase alfa treatment in participants with late-onset pompe disease. the secondary objectives are to characterize the disease burden in participants with late-onset pompe disease and explore imaging, histologic, and functional assessments in these participants and to explore potential plasma or urine biomarkers relative to late-onset pompe disease and participant's response to treatment with alglucosidase alfa (myozyme®/lumizyme®/gz419829).


Eligibility criteria:
inclusion criteria: * the participant has confirmed acid alpha-glucosidase (gaa) enzyme deficiency from any tissue source and/or confirmed gaa gene mutations and without known cardiac hypertrophy * the participant is able to ambulate a distance without stopping and without an assistive device. use of assistive device for community ambulation is appropriate * the participant has a certain forced vital capacity (fvc) in upright position * the participant, if female and of childbearing potential, must have a negative pregnancy test (urine beta-human chorionic gonadotropin \[beta-hcg\]) at baseline exclusion criteria: * the participant has had previous treatment with ert * the participant is wheelchair dependent * the participant requires invasive-ventilation (non-invasive ventilation is allowed) * the participant is participating in another clinical study using investigational treatment * the participant cannot submit to magnetic resonance imaging (mri) examination because of a formal contraindication such as a pacemaker, implanted ferromagnetic metals, etc * the participant, in the opinion of the investigator, is unable to adhere to the requirements of the study
empathy, psychopathy and autism: behavioural associations and the role of an oxytocin receptor polymorphism in a non-clinical adult population

Conditions: Empathy; Autism; Psychopathy

Summary: this is an investigation into the associations between psychopathic traits, autistic traits and empathy (cognitive and affective) in the general population as measured using three self report questionnaires and one behavioural task. participants will also be genotyped for oxtr rs53576 to assess whether this mutation associates with any of the behavioural traits investigated.

in clinical populations with psychopathy or autism, associations with different forms of empathy have been found. an increase in autistic traits has been found to be associated with a decrease in cognitive empathy traits but no difference in affective empathy traits, while an increase in psychopathic traits has been found to be associated with a decrease in both cognitive and affective empathy traits. the current investigation is to establish whether this previously observed relationship between cognitive empathy, affective empathy, psychopathic traits and autistic traits found in clinical populations is also found in a non-clinical population. this will be assessed by three self report questionnaires and one behavioural task (as described in 'outcome measures'). this investigation will also assess the potential link between of all of the traits measured and a specific snp on the oxytocin receptor gene (oxtr rs53576) to establish whether this mutation is associated with any of these behaviours.

Eligibility criteria:
inclusion criteria: * at least 18 years of age at time of participation * proficient english reading comprehension exclusion criteria: * current or previous diagnosis of a psychopathy, autism or related conditions. * not proficient in english reading comprehension

Keywords: psychology biopsychology genetics
efficacy and safety study of rimegepant in episodic migraine prevention with multiple dosing regimens

Conditions: Migraine

Summary: the purpose of this study is to compare the efficacy and safety of daily and every other day dosing of rimegepant to placebo as a preventive treatment for episodic migraine.


Eligibility criteria:
inclusion criteria: 1) target population: subject has at least 1 year history of episodic migraine (with or without aura) consistent with a diagnosis according to the international classification of headache disorders, 3rd edition, including the following: 1. age of onset of migraines prior to 50 years of age 2. migraine attacks, on average, lasting 4-72 hours if untreated 3. per subject report, 4-14 migraine attacks per month within the last 3 months prior to the screening visit (month is defined as 4 weeks for the purpose of this protocol exclusion criteria: 1. sex and reproductive status: 1. wocbp who are unwilling or unable to use an acceptable contraceptive method or abstinence to avoid pregnancy for the entire study and for 60 days after the last dose of study drug 2. women who are pregnant or breastfeeding 3. women with a positive pregnancy test at screening or prior to study drug administration 2. prohibited medications: 1. use of prophylactic migraine medication within 30 days prior to the screening visit. 2. history of use of analgesics (e.g., non-steroidal anti-inflammatory drugs \[nsaids\] or acetaminophen) on ≥ 15 days per month during the 3 months (12 weeks) prior to the screening visit. 3. use of medication accepted for treatment of acute migraine for a nonmigraine indication on ≥ 15 days per month during the 3 months (12 weeks) prior to the screening visit. 4. subjects who previously discontinued biologic migraine medication must have done so at least 6 months (24 weeks) prior to the screening visit. 5. subjects taking a prohibited medication as defined per protocol

Keywords: migraine episodic migraine adult migraine calcitonin gene-related peptide migraine prevention migraine prophylaxis
a study of radiation toxicity in the liver using mri-based perfusion

Conditions: Liver Cancer

Summary: researchers at the the university of michigan are conducting a research project to assess how a course of radiation therapy changes the way blood flows through the liver. to be able to do this, the researchers will be using mri (magnetic resonance imaging) scans completed before, during, and after radiation therapy. mri's will be done on 4 or 5 occasions. on each occasion, you will be injected with a fluid called gadolinium (a contrast agent) before getting an mri. this contrast agent makes it easier for the researchers to see your organs in the scans, and causes any abnormal areas to become very bright on the mri. this agent will be injected into a vein in your arm or leg. each mri scan will last approximately 45 minutes.


Eligibility criteria:
inclusion criteria: * patients must be ≥18 years of age. * the patient's planned cancer management is radiation to the liver with or without chemotherapy. * patients must have a performance status of 0-2 and a life expectancy of at least 3 months. * patients should have no contraindications to having a contrast enhanced mri scan. exclusion criteria: * women who are pregnant or breastfeeding are excluded. * prisoners are excluded
effects of flow magnitude on cardiorespiratory stability during nasal high flow therapy in preterm infants

Conditions: Respiratory Distress Syndrome

Summary: premature babies often need help breathing for a longer period of time. traditionally, this is done with a breathing aid called ncpap (nasal continuous positive airway pressure). this treatment is safe and effective, but it is very time-consuming and can sometimes have side effects. in the present research project, the investigators want to find out whether another type of breathing aid called nhf (nasal high flow therapy) is just as effective for stable premature babies. the investigators suspect that nhf is just as effective, but easier to use and more comfortable.

this is a multi center parallel group three arm randomized controlled clinical trial investigating cardiorespiratory stability in stable preterm infants receiving nhf. currently, ncpap remains the gold standard for administration of prolonged non-invasive ventilatory support in very preterm infants. nhf is a promising method for tailored, less invasive long-term ventilatory support for preterm infants. if ventilatory support with nhf is similarly effective to conventional ncpap in stable preterm infants, clinicians are likely to adopt this method for widespread clinical use because of its improved comfort and potential other benefits. primary aim of this trial is to examine cardiorespiratory stability in preterm infants treated with two commonly used nhf flowrates (interventional group 1 and 2) in comparison to ncpap (comparator). secondary aim is to examine potential comfort-related beneficial effects of nhf.

Eligibility criteria:
inclusion criteria: inclusion if all apply. * preterm infants up to 31+6 weeks ga admitted to the division of neonatology at inselspital bern, switzerland or division of neonatology at the university medical center of the johannes gutenberg-university mainz, germany (inborn or outborn) * \>2nd day of life (defined as date day) * stable on ncpap 6 cm h2o for ≥ 24 hours, defined as: * ≤ 2 apneas with concomitant bradycardias (\<100/min) per hour for the previous 6 hours * fio2 ≤ 0.3 and not increasing * no significant chest recessions (silverman score \< 5) * respiratory rate ≤ 60/min * no need for intermittent positive pressure ventilation * parents with an age 18+ years * written parental informed consent (or other legal representative) exclusion criteria: exclusion if any applies. * significant fetal anomalies * primary palliative care * stable on ncpap 6 cm h2o according to stability criteria for more than 120 hours

Keywords: nasal high flow therapy continuous positive airway pressure
blood flow restriction versus standard exercise after rotator cuff repair

Conditions: Rotator Cuff Injury; Rotator Cuff Tears; Rotator Cuff Repair

Summary: the goal of this clinical trial is to determine the effectiveness of postoperative standard exercises with blood flow restriction therapy (bfrt) versus standard exercises alone on shoulder muscle strength and mass in participants with surgically treated rotator cuff tear. it is presumed that the addition of bfrt will significantly improve the shoulder strength and muscle mass at the end of the intervention period compared to the group receiving only standard exercises. patients who agree to participate in this research will be randomly assigned to a control group (standard exercises alone) or an experimental group (standard rehabilitation with bfrt). the duration of the postoperative intervention will be 12 weeks. the primary variables will be the shoulder muscle strength and muscle mass. secondary variables will be the active shoulder mobility, pain intensity, upper limb disability, and health-related quality of life. results will be measured at 0, 4 and 12 weeks postoperative.


Eligibility criteria:
inclusion criteria: * age between 40-65 years * symptomatic degenerative rotator cuff tear diagnosed by magnetic resonance imaging * undergoing arthroscopic rotator cuff repair * be able to read and understand spanish exclusion criteria: * massive irreparable rotator cuff tear * concomitant fracture * labral or nerve injury * suspicious of developing a frozen shoulder * revision surgery after rotator cuff repair * previous corticosteroid injection (\< 6 months) * recent surgery (\< 1 year) in the contralateral shoulder * history of deep venous thrombosis/pulmonary embolism, peripheral vascular disease, thrombophilia or clotting disorders * severe or uncontrolled hypertension, or any comorbid condition that impedes participants to complete the intervention

Keywords: blood flow restriction therapy blood flow restriction training
health related lifestyle and quality of life in children with cerebral palsy

Conditions: Cerebral Palsy; Quality of Life; Physical Activity; Physical Disability; Parenting; Sleep Disorder

Summary: the primary aim of this study is assessing physical activity, the quality of sleep and health related quality of life in children with cerebral palsy, and parenting stress of caregivers of the children with cerebral palsy in korea.

monitor the physical activity, health related quality of life, parenting stress according to gmfcs level in children with cerebral palsy in korea. 1. physical activity and quality of sleep are monitored by wearing actigraph for a week. 2. health related quality of life is checked by parents withchild health questionnaire parent form 50 (chq-pf50). 3. parenting stress is monitored with korean parenting stress index-short form (k-psi-sf) by parents.

Eligibility criteria:
inclusion criteria: * children with cerebral palsy, 4-19 years old exclusion criteria: * patients with progressive brain lesions, tumors, leukodystrophies, etc. * children with mitochondrial myopathy * some diseases that are known to progress, rett syndrome, etc.

Keywords: cerebral palsy health-related quality of life physical activity
antiretroviral therapy and extreme weight

Conditions: HIV Infection

Summary: the concentration of the third agent in antiretroviral therapy \[non nucleoside reverse transcriptase inhibitor (nnrti), or boosted protease inhibitor (pi) \] is different according to the body weight or body composition and therapeutic monitoring may be necessary in overweight hiv patients. the investigators aim at measuring the individual trough concentrations of interest \[at steady state for nnrti and boosted pi\] in overweight and normal weight hiv+ patients.

our primary endpoint is the individual trough concentrations of interest at steady state for nnrti or boosted pi; principal outcome measure: comparison of the concentrations between patients \<25kg/m2 and patients\<25kg/m2 secondary endpoints: * occurrence of virologic failure * occurrence of clinical/biological adverse events * percentage of patients with concentration within the therapeutic range * body composition secondary outcome measures: comparison of the occurrence of virologic failure, occurrence or adverse event, patients with concentration within the therapeutic range between groups. correlation between body composition and concentration. methodology, study design: open-labelled monocentric study. sample size: it will be a descriptive experimental study involving 120 overweight subjects, 120 normal weight subjects inclusion criteria : * patients with hiv+ * patients aged more than 18 years old. * patient giving its well-informed and free consent. study design : plasma concentration was performed during the usual clinical follow-up. study duration: 12 months duration for a patient: 1 day investigating center and participating units: one center enrolling the patients and the lab performing drug dosages.

Eligibility criteria:
inclusion criteria: * patients with hiv+ receiving one of the following third agent their haart: efavirenz, atazanavir , or darunavir * patients aged \> 18 years old. * patient giving its well-informed and free consent. patient giving its well-informed and free consent. patients living in france during the study. exclusion criteria: treatment with rifampin/rifabutin

Keywords: trough concentration weight hiv virological failure
the effectiveness of gamification vs. traditional teaching in undergraduate medical education

Conditions: Medical Education; Gamification

Summary: this study will evaluate the effectiveness of a gamification-based learning method (board game) versus traditional teaching (lecture) in enhancing the knowledge of acute cholecystitis and pancreatitis among medical students in the general surgery ward at rasoul akram hospital. this study will be conducted as an extra-curricular program, using pre- and post-tests to determine the effectiveness of gamification in general surgery learning within undergraduate medical education. the board game will incorporate innovative educational strategies to engage students in learning about acute cholecystitis and pancreatitis


Eligibility criteria:
inclusion criteria: * medical students in their clinical externship in the general surgery ward. * willingness to participate voluntarily. exclusion criteria: * previous knowledge or exposure to acute cholecystitis and pancreatitis. * lack of consent or inability to attend the sessions. * medical students not currently assigned to general surgery clinical rotations.

Keywords: gamification boardgame medical education medical student general surgery
prevention of cerebral infarction in sickle cell anemia - comprehensive sickle cell center

Conditions: Anemia, Sickle Cell; Blood Disease; Cerebrovascular Disorders; Cerebrovascular Accident

Summary: to conduct a prospective study aimed at the early detection and treatment of cerebral vascular disease prior to irreversible brain injury in young children with sickle cell anemia (sca).

background: cerebral infarction is a major contributor to childhood morbidity and mortality in sickle cell anemia (sca) design narrative: the investigators tested the hypotheses that young children with sca experienced a variable period of asymptomatic progressive central nervous system (cns) vasculopathy prior to cerebral infarction; that pre-infarct cns vasculopathy could be identified by non-invasive imaging techniques:mri, magnetic resonance angiography (mra), and transcranial doppler (tcd); and that therapeutic intervention at this stage of the disease could significantly reduce the subsequent occurrence of cerebral infarction. mri, mra, tcd, and standardized neurologic and psychometric examinations were performed yearly in a cohort of homozygous hb ss children enrolled at 2-4 years of age. subjects without mri evidence of cerebral infarction who had significant cerebral vasculopathy (cerebral arterial stenosis on mra and/or elevated blood flow velocity on tcd) were randomized to receive either no therapy or chronic transfusion therapy, in order to determine the risk of subsequent cerebral infarction in untreated subjects with these abnormalities, and the extent to which transfusion therapy could significantly reduce the risk. subjects with evidence of prior cerebral infarction on mri, whether symptomatic or asymptomatic, were randomized to receive either chronic transfusion therapy alone ('standard therapy') or chronic transfusion therapy plus ticlopidine, in order to determine whether ticlopidine could significantly increase the efficacy of standard therapy in preventing recurrent cerebral infarction in sca. subjects with prior cerebral infarction were also offered the option of bone marrow transplantation if an hla-identical non-ss sibling donor was available.

Eligibility criteria:
no eligibility criteria
nutraceutical combination in patients with low-grade systemic inflammation

Conditions: Atherosclerosis; Inflammation; Hypercholesterolemia

Summary: the investigators tested if a nutraceutical combination with red yeast rice, berberine and policosanol (nc) can significantly modify inflammation, lipid profile and markers of endothelial injury (endothelial microparticles) in subjects with elevated levels of high-sensitivity c-reactive protein (hscrp).

will be included in the study 100 subjects with suboptimal ldl cholesterol levels (ldl 100-160 mg / dl) and hscrp levels\> 2 mg / l, divided into two groups of equal numbers, matched by by sex and age, randomized to receive a nutraceutical combination containing red yeast 200 mg, berberine 500 mg and policosanol 10 mg (nc) in combination with a low-cholesterol diet (\<200 mg / day) or a low-cholesterol diet only (standard of care - soc). all subjects at the time of inclusion in the study protocol will be prescribed the soc for a period of 30 days (lipid stabilization period: lsp); after 30 days lsp it will be performed randomization in the two intervention arms: nc + soc or soc.

Eligibility criteria:
inclusion criteria: * ldl cholesterol \<160 mg/dl (4,14 mmol/l); * hscrp \>2 mg/l; exclusion criteria: * triglycerides \>500 mg/dl (5.6 mmol/l); * current or previous treatment with lipid-lowering drugs or with other drugs supposed to modify vascular damage and/or repair (antiplatelet, anti-hypertensive and antioxidant drugs); * current or previous treatment with hormone replacement therapy for menopause vasomotor symptoms; * evidence of liver dysfunction or alanine-aminotransferase (alt) levels twice above the upper normal limit; * creatin-kinase (ck) levels thrice above the upper normal limit * history or clinical evidence of previous or current cardiovascular disease; * presence of strong cardiovascular risk factors such as: serum creatinine levels \>2 mg/dl, diabetes mellitus, uncontrolled systemic arterial hypertension (systolic blood pressure \>190 mg/dl or diastolic blood pressure \>100 mg/dl); history of cancer in the former 5 years before recruitment; not adequately treated hypothyroidism (tsh levels \>1,5 times the upper normal limit); * history of malignancy in the previous 5 years before screening; * not adequately treated hypothyroidism (tsh levels \>1,5 times the upper normal limit); * previous or current alcohol or drugs abuse; * history or clinical evidence of chronic inflammatory disease such as severe arthritis, systemic lupus erythematosus or chronic inflammatory bowel disease; * current or previous use of immunosuppressant agents or long term glucocorticoids * history or clinical evidence of any severe concomitant disease which may compromise subject's safety or its possibility to carry out the study.

Keywords: c-reactive protein endothelial microparticles endothelium nutraceutical cholesterol
dressing impregnated with chlorhexidine and vancomycin for the prophylaxis of central venous catheter-related infections - a randomized trial

Conditions: Chlorhexidine

Summary: you are being invited as a volunteer to participate in the study "dressing impregnated with chlorhexidine and vancomycin for the prophylaxis of central venous catheter-related infections." the objective is to evaluate the incidence of bloodstream infection related to the catheter in icu patients with central venous catheters (cvc), using dressings impregnated or not with chlorhexidine/vancomycin. we believe this study is important as it aims to evaluate a new dressing method intended to reduce bloodstream-related infections.


Eligibility criteria:
iinclusion criteria included: age over 18 years, admitted to the icu, need for a cvc placed in the icu by the trained team, use of the cvc for a period exceeding 72 hours, and intact skin in the area of contact with the dressing. cvc inserted outside the icu and need for two cvcs in the same patient simultaneously were exclusion criteria. a subsequent cvc could not be randomized. other infections were not excluded during the evaluation. only short-term cvc were evaluated (long-term and hemodialysis were excluded).

Keywords: chlorhexidine