Kornimate/medical-research-clean huggingface dataset:
stenting versus neurosurgical treatment of idiopathic intracranial hypertension.

Conditions: Pseudotumor Cerebri; Cerebrospinal Fluid; Transverse Sinuses

Summary: idiopathic intracranial hypertension (htici) is a pathology, affecting young adults with a predominance of women, due to an increase in intracranial pressure, which may be associated with stenosis of the cerebral venous sinuses and whose origin remains unknown. this hypertension can lead to papillary edema (op) which can lead to a narrowing of the visual field and progress to blindness. along with weight reduction, acetazolamide, which reduces the production of cerebrospinal fluid (csf), is prescribed as a first-line treatment. its efficacy is inconsistent in resolving papillary edema and there are many side effects. in the event of ineffectiveness or dependence on acetazolamide associated with hygiene and dietetic rules, a second line of therapy is then considered: neurosurgical (internal shunt of the lcs) or endovascular (venous stenting) treatment. these invasive techniques have each proven their effectiveness in the rapid and permanent resorption of op, allowing improvement or preservation of visual function. in terms of induced morbidity, the superiority of one technique over the other, if it exists, has not been established. our objective is to compare the efficacy, safety, and safety of lcs bypass surgery versus venous sinus stenting in htici with moderate to severe visual impairment after failure of medical treatment defined by the absence of resorption of the op after several months

intervention 1 name : internal ventricular shunt (neurosurgery) other name \[facultatif\] : description : the internal ventricular shunt consists of the introduction of a catheter from a lateral ventricle into the atrium or peritoneum. it is associated with a valve whose opening pressure is adjustable. the goal is that cerebrospinal fluid can be absorbed extra-cranial. intervention 2 name : endovacascular stenting (interventional neuroradiology) other name \[facultatif\] : description : the placement of a vascular endoprosthesis (stent) is an interventional neuroradiology procedure aimed, by venous approach (percutaneous puncture), to restore the diameter of a venous sinus. it requires 6 months of antiplatelet aggregation. the aim is to allow better venous drainage from the brain to increase the absorption of cerebrospinal fluid.

Eligibility criteria:
inclusion criteria: * patient aged 18 or over * htici proven greater than 25cm of water * presence of papillary edema (grade\> 0 on the frisen scale) * stenosis of at least one transverse sinus on mri * failure of medical treatment and surgical / interventional indication defined by the medical team taking care of the patient * consent to participate in the study exclusion criteria: * fulminant htici * contraindication to antiplatelet aggregation * contraindication to one or the other of the interventions under study * pregnant or breastfeeding woman

Keywords: endovacascular ventricular shunt papillary edema visual field
stratification of cutaneous squamous cell carcinomas according to its transcriptomic, metabolic and inflammatory characteristics

Conditions: Skin Cancer

Summary: a collection of biological samples (skin) will be created to meet the objectives. skin biopsies will be taken (excluding on face and fold), in accordance with standard practice.

skin cancers are the most common type of cancer in human. among them, cutaneous squamous cell carcinomas (csccs) represent the 2nd most frequent, with an incidence that continues to grow (+300% between 1994 and 2006) in line with the ageing of the population and sun exposure habits. csccs is a multi-stage carcinogenesis model: the pre-cancerous lesion is actinic keratosis (ak), which can either regress or progressively evolve into cscc in situ and then infiltrating, and in some patients into a metastatic stage, initially lymph node and then distant, life-threatening. csccs are classified as low-risk or high-risk according to clinical and histological criteria associated with the risk of recurrence and metastasis. however, there is currently no tool for predicting this risk for a given cscc, particularly according to its genetic characteristics. indeed, the high mutation rate makes it difficult to identify specific genetic profiles. similarly, there is no tool to predict the potential for a precancerous lesion (ak) to regress or to develop into a cscc. the aim of this study is to characterize the molecular and metabolic features as well as immunologic landscapes of precancerous ak and csccs in order to uncover epithelial and immune cell subpopulations supporting tumor progression.

Eligibility criteria:
inclusion criteria: * patients aged 18 or over, * patients with suspected ak, or cscc lesions (in situ, infiltrating or metastatic), * patients able to sign a consent form, * patients affiliated to a french social security system. exclusion criteria: * patients who have previously received systemic treatment (chemotherapy, immunotherapy), * patients with cscc or ak localized on visible zone of the face or folds * patients under guardianship or guardianship, * patient not affiliated to a french social security system.

Keywords: actinic keratosis, cutaneous squamous cell carcinoma mitochondria metabolism
home sleep and circadian phase: mediators of diabetes risk

Conditions: Sleep Deprivation; Diabetes; Circadian Dysregulation

Summary: the purpose of this study is to determine if deficient sleep and/or disruption with the body's internal clock ("circadian rhythms") are associated with diabetes risk. this study is being done to look at the possible relationships between sleep and risk of diabetes by examining sleep in the home and diabetes risk in the laboratory.


Eligibility criteria:
inclusion criteria: 1. ages 21-50 years 2. bmi \<40 kg/m2. 3. no major illness. 4. no history of psychiatric, endocrine, cardiac or sleep disorders, 5. premenopausal, non-pregnant women. 6. those with dyslipidemia and hypertension will be included if these conditions are controlled by a stable treatment, such as lipid-lowering or antihypertensive medications (except beta blockers). exclusion criteria include: 1. persons with diabetes. 2. persons with diagnosed sleep disorders or apnea-hypopnea index\>15. 3. history of cardiovascular event or disease (excluding controlled hypertension). 4. major psychiatric disorder or other major illness. 5. persons taking medications, including but not limited to antidepressants and hypnotics (but excluding lipid-lowering drugs and anti-hypertensive medications as mentioned above). 6. persons regularly taking medication that affects melatonin such as beta blockers and exogenous melatonin. 7. anyone who tests positive for common drugs of abuse. 8. people with color blindness. 9. people who have had lasik eye surgery. 10. people who work night shifts. 11. participants who travel across multiple time zones will be studied only after they have remained in the central time zone (or indiana) for one month prior to the study.

Keywords: diabetes sleep
identification of the genetic variants responsible for primary biliary cirrhosis (pbc)

Conditions: Liver Cirrhosis, Biliary; Biliary Cirrhosis, Primary

Summary: primary biliary cirrhosis (pbc) is a disease of the liver, which predominantly affects women. it causes slowly progressive liver disease, which eventually causes liver failure, requiring a liver transplant. several different studies of large patient cohorts indicate that the cause of this disease is likely due to a combination of factors including genetic and environmental. pbc is associated with several other "autoimmune diseases" - recently a gene has been identified to be abnormal in individuals with another autoimmune liver disease, namely rheumatoid arthritis. this gene usually tells the body when to switch off an immune response. this study plans to identify whether individuals diagnosed with pbc have a similar abnormality in this gene called protein tyrosine phosphatase.

very recently, a single nucleotide polymorphism (snp) in the ptpn22 gene encoding the lyp (lymphoid-specific phosphatase) ptp has been shown to be associated with susceptibility to rheumatoid arthritis (ra) and type 1 diabetes (t1d)4,5. these data are consistent with the known role for lyp in suppressing t cell activation and with data showing t cell activation (and potentially autoreactivity) to be increased by the ra and t1d-associated ptpn22 variant. the ptpn22 risk allele has also been recently implicated in grave's disease and as such appears to represent a susceptibility allele for many autoimmune diseases. as a number of these conditions (ra, t1d etc.) frequently occur within members of pbc families, this ptpn22 variant is very likely to also be involved in pbc, a possibility we will directly investigate in this pilot study. the aim of this study is to analyze the frequency of a specific ptpn22 polymorphism in patients with pbc.

Eligibility criteria:
inclusion criteria: * patients attending liver clinic at toronto western hospital, toronto, on, canada * ama positive and liver biopsy proven pbc. exclusion criteria: - ama negative pbc

Keywords: biliary cirrhosis, primary genes autoimmune disease
metabolic determinants of cardiac function

Conditions: Heart Failure; Diabetes Mellitus

Summary: assessment of cardiac energy metabolism in patients with impaired glucose tolerance

insulin resistance, hepatocellular lipids (hcl) and plasma concentrations of free fatty acids (ffa) are predictors of heart failure, the leading cause of mortality in patients suffering from type 2 diabetes mellitus (t2dm). epidemiological data suggest that diabetic cardiomyopathy (dc) presents as ventricular dysfunction in patients with t2dm independent of coronary artery disease. the underlying cellular mechanisms are poorly understood. reduced mitochondrial activity and insulin resistance of skeletal muscle relates to liver steatosis, possibly due to higher substrate flux to the liver. high oxidation rates in the liver result in oxidative stress, damage of mitochondria and apoptosis. the investigators hypothesize that (i) hcl and impaired liver energy metabolism correlate with ventricular dysfunction, (ii) impaired glucose uptake and mitochondrial capacity in skeletal muscle relates to enhanced oxidative capacity, oxidative stress and lipid deposition in heart tissue (iii) reduced myocardial oxidative capacity limits recovery of myocardial function in patients with acute heart failure. the investigators aim to assess (i) liver energy metabolism and heart function, (ii) respiration and lipid metabolites in skeletal muscle and heart tissue in humans with advanced heart failure and (iii) the prognostic impact of these factors in humans with acute heart failure. this study will improve the understanding of mechanisms underlying the development of dc and the identification of patients at risk for poor outcome in heart failure.

Eligibility criteria:
inclusion criteria: * age ≥ 20 and ≤85 years * myocardial biopsy for medical reason exclusion criteria: * acute infection * autoimmune disease * pregnancy * cancer

Keywords: heart failure, diabetes mellitus, mitochondrial respiration
renal nerve denervation in patients with hypertension and paroxysmal and persistent atrial fibrillation

Conditions: Atrial Fibrillation; Hypertension

Summary: the purpose of this clinical study is to evaluate the feasibility of performing both renal nerve denervation and pulmonary vein isolation on the same patient with the intent of characterizing both safety and effectiveness in a paroxysmal and persistent atrial fibrillation population with hypertension. to assess safety, the study will measure the occurrence of a composite safety endpoint and, to assess effectiveness, the study will measure freedom of chronic treatment failure through a minimum of six months of follow-up.


Eligibility criteria:
key inclusion criteria: * drug refractory recurrent symptomatic paroxysmal or persistent atrial fibrillation * office-based systolic blood pressure of ≥140 mm hg based despite treatment with 1 or more antihypertensive medications * age 18 years to 80 years old. key exclusion criteria: * renal artery anatomy that is ineligible for treatment including: lacks at least one renal artery for each kidney with ≥3 mm diameter and minimum treatable length per the spyral instructions for use, renal artery stenosis (\>50%) or renal artery aneurysm in either renal artery, a history of prior renal artery intervention including balloon angioplasty or stenting, renal artery which contain calcification which does not allow at least four radio frequency ablations to be delivered , diffuse fibromuscular dysplasia (fmd) or fmd which does not allow at least four radio frequency ablations to be delivered; fmd defined as visible beading of the artery on angiography , unilateral kidney. * estimated glomerular filtration rate of \<30 ml/min/1.73m2. * pregnant, nursing or planning to be pregnant. (female participants of childbearing potential must have a negative serum or urine human chorionic gonadotropin (hcg) pregnancy test prior to angiography). * currently enrolled or plans to participate in a potentially confounding drug or device trial during the course of this study. co-enrollment in concurrent studies is allowed when documented pre-approval is obtained from the medtronic study manager.
new approach in the study of the autonomic nervous system through cardiac variability in sleep apnea syndrome.

Conditions: Sleep Apnea

Summary: the main objective of this study is to compare the different variations of the cardiac variability index measured thanks to the technique developed by the cic-it between subjects with severe sas and healthy subjects with sleep pathology. in a first step, these two groups will be compared in rem sleep phase because it is the period during which the risk of sleep apnea syndrome is the highest. in a second step, the same methodology will be applied for the other sleep phases and correlations will be established with the other markers of cardiac variability (hrv) already known. this will allow to validate a reliable method of screening for sas that is more accessible in ambulatory settings by means of a machine learning system based on artificial intelligence


Eligibility criteria:
inclusion criteria: * group healthy subjects - 1): absence of sleep disorder referenced in the icsd-3. * epworth sleep scale \< 11 * pittsburgh quality sleep index \< 6 * berlin questionnaire: \< 2 positive categories * stop bang \<3 * hads normal * no rls * group 2 (subjects with severe sas - 2): ahi \> 30/h obstructive exclusion criteria: non-inclusion criteria: * cardiac rhythm disorder * neurological or psychiatric pathology impacting on ans * control group (healthy subjects - 1) * complaint of sleep disorder * known sleep disorder * experimental group (subjects with severe sas - 2): o associated sleep pathology at diagnosis of severe sas * administrative reasons: * unable to receive informed information, * unable to participate in the entire study * lack of social security coverage * refusal to sign consent exclusion criteria * control group (healthy subjects - 1): * sleep pathology detected by polysomnography * total sleep time less than 4 hours * recording technically not usable

Keywords: sleep apnea hypopnea syndrome autonomic nervous system cardiac variability automatic detection machine learning
omics gaucher study: multiomic approach

Conditions: Gaucher Disease

Summary: the study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from gaucher patients and healthy controls.

gaucher disease is one of the most common lysosomal storage disorders (lsd) and is an autosomal recessive inherited disorder, primed by mutation in the gba1 gene which leads to a deficiency in β-glucocerebrosidase (gcase) activity and accumulation of its substrate glucosylceramide (glucer)/-sphingosine (glusph). the macrophages are the main cell type exhibiting a gaucher disease phenotype. the large accumulation of glucer and to a lesser extent that of glusph lead to dysfunction in organs such as spleen, liver, bone marrow, and lungs. however, a validated, reproducible, and broadly applicable tool to classify gaucher disease at any stage of the disease is still missing. the development of new technologies, such as genomic analysis by next generation sequencing (ngs) and other "omics technologies," has advanced the molecular understanding and diagnosis of rare diseases the current study will analyze the transcriptional and metabolomic profiles in blood, plasma and isolated monocytes from gaucher patients and healthy controls with the aim to compare these profiles and to define how much a patient profile differs from a healthy one.

Eligibility criteria:
inclusion criteria: gaucher type 1 participants: * informed consent * the participant is older than 18 years old * the participant was diagnosed with gaucher type 1 disease gaucher type 3 participants: * informed consent * the participant is older than 18 years old * the participant was diagnosed with gaucher type 3 disease healthy participants: * informed consent * the participant is older than 18 years old * healthy participants exclusion criteria: gaucher type i participants: * the participant had any other clinically significant disease * the participant had a recent (within 14 days) acute infection and/or vaccination gaucher type 3 participants: * diagnosis of a significant cns disease or cardiovascular disease other than gaucher type 3 * the participant had a recent (within 14 days) acute infection and/or vaccination healthy participants: * the participant had a recent (within 14 days) acute infection and/or vaccination
fatiguing arm exercise following stroke

Conditions: Stroke

Summary: this study investigates the effects of sub-maximal exercise to task-failure (e.g., fatigue) with the less involved, or so-called non-paretic hand, in people who have experienced a stroke. in previous work the investigators found that non-paretic hand exercise to task-failure increased excitability of the motor cortex in the more involved hemisphere and produced behavioral improvements in the unexercised paretic hand. importantly, the magnitude of increased brain excitability is greater than what has been observed following brain stimulation with either repetitive transcranial magnetic stimulation (tms) or transcranial direct current stimulation (tdcs) and lasts longer. this approach could be implemented in the clinical setting and could be accessible to a greater number of people than brain stimulation. the investigators' goals in the current study are to: repeat previous findings in a different group of participants and investigate the neural mechanisms that produce brain and behavioral facilitation in order to inform development of this approach for clinical implementation.

the long-term goal is to restore upper extremity (ue) motor function following stroke. the overall objective of this proposal is to improve the investigators' understanding of neural mechanisms contributing to inter-limb and inter-hemispheric transfer following non-paretic limb exercise to task failure. the investigators will use transcranial magnetic stimulation to probe acute adaptations in cortical excitability, intracortical and inter-hemispheric circuits that accompany behavioral facilitation of the paretic hand. the work proposed in this two year project will enable the investigators to obtain three data elements critical to complete the working hypothesis: 1. . changes in intracortical and interhemispheric inhibition in both hemispheres following non-paretic limb exercise to task-failure. 2. . behavioral effects using a motor task involving manipulation and dexterity. 3. . determine the persistence and consistency of neural and behavioral facilitation.

Eligibility criteria:
inclusion criteria: * individuals at least 6 months post-stroke in the cortical or sub-cortical distribution with residual upper-extremity hemiparesis * non-veteran participants are eligible exclusion criteria: * multiple strokes * strokes in both hemispheres * brainstem/medullary/cerebellar stroke * seizure disorder * metal implants in head or neck * pacemaker or other implanted device * inability to produce any measurable grip force

Keywords: hemiparesis
halt cardiomyopathy progression in duchenne (hope-ole)

Conditions: Duchenne Muscular Dystrophy

Summary: this phase 2, multi-center, open-label extension trial will provide cap-1002 to participants who were randomized to the usual care treatment group of the hope-duchenne study (nct02485938) and completed 12 months of follow-up. the trial will assess the safety and efficacy of two intravenous administrations of cap-1002, each separated by three months.

participants with documented enrollment in the usual care treatment group of the hope-duchenne study and completion of study follow-up through month 12 were eligible for this study. participants will undergo a targeted screening during a 30-day screening period, eligible subjects will then undergo baseline safety and efficacy assessments on day 1 prior to their first infusion of cap-1002. all cap-1002 infusions will be conducted in an outpatient setting at the investigative site on day 1 and at month 3. participants will be observed in the outpatient setting for at least two hours post-infusion and then discharged the same day if medically cleared by the site investigator.

Eligibility criteria:
inclusion criteria: 1. documented enrollment in the usual care treatment group of the hope-duchenne trial and completion of trial follow-up through month 12. 2. willing and able to provide informed consent to participate in the trial if greater than or equal to (\>=) 18 years of age, and assent with parental or guardian informed consent if less than (\<) 18 years of age. 3. adequate venous access for intravenous cap-1002 infusions and routine blood collections in the judgement of the investigator. 4. assessed by the investigator as willing and able to comply with the requirements of the trial. exclusion criteria: 1. left ventricular ejection fraction (lvef) \< 35 percent (%) within 6 months of screening. 2. planned or likely major surgery in the next 6 months after planned first infusion. 3. risk of near-term respiratory decompensation in the judgment of the investigator, or the need for initiation of non-invasive ventilator support as defined by serum bicarbonate \>= 29 millimoles per liter (mmol/l) at screening. 4. history of non dmd-related chronic respiratory disease including, but not limited to, asthma, bronchitis, and tuberculosis. 5. acute respiratory illness within 30 days prior to screening. 6. known hypersensitivity to dimethyl sulfoxide (dmso) or bovine products. 7. treatment with investigational product \<= 6 months prior to first infusion. 8. history, or current use, of drugs or alcohol that could impair ability to comply with participation in the trial. 9. inability to comply with the investigational plan and follow-up visit schedule for any reason, in the judgment of the investigator.

Keywords: duchenne muscular dystrophy cardiomyopathy duchenne
the effect of transcutaneous electric nerve stimulation on primary dysmenorrhea-a randomized control study

Conditions: Primary Dysmenorrhea,

Summary: the purpose of this study is to investigate the effect of high frequency tens and compare to the placebo effect by sham tens in a randomized control study.

over 50% of american women suffered from dysmenorrhea and 10% of them will take sick leave for 1-2 days. previous randomized control studies have demonstrated the pain relief effect of using high frequency tens in dysmenorrheal pain. however, no investigation has been conducted to investigate the effect of high frequency tens in female population in our country. the purpose of this study is to investigate the effect of high frequency tens and compare to the placebo effect by sham tens in a randomized control study.

Eligibility criteria:
inclusion criteria: * primary dysmenorrhea exclusion criteria: * subjects with organic disorders

Keywords: primary dysmenorrhea, transcutaneous electric nerve stimulation