Kornimate/medical-research-clean huggingface dataset:
abcb4 gene mutations in intrahepatic cholestasis of pregnancy and controls

Conditions: Intrahepatic Cholestasis of Pregnancy

Summary: mutations of the atp binding cassette subfamily b member 4 (abcb4) gene, a gene involved in a subtype of progressive familial intrahepatic cholestasis, have been reported in women suffering from intrahepatic cholestasis of pregnancy. the true incidence and the role of these abcb4 gene mutations in patients suffering from intrahepatic cholestasis of pregnancy have not been clearly established. the aim of the present study is to describe the nature and frequency of these mutations in a series of patients with intrahepatic cholestasis of pregnancy and to compare with a control group of pregnant women without intrahepatic cholestasis of pregnancy.

intrahepatic cholestasis of pregnancy was defined by pruritus and elevated serum alanine aminotransferase activity or bile acid concentration, with recovery after delivery. patients with intercurrent liver disease were excluded. the entire abcb4 gene coding sequence and the promoter region were analyzed, during the routine medical management, by single strand conformation polymorphism and/or sequencing in 50 unrelated caucasian patients with intrahepatic cholestasis of pregnancy. the genomic variants detected in these patients with intrahepatic cholestasis of pregnancy will be sought in 100 control women from caucasian origin recruited in the same hospital.

Eligibility criteria:
for the control group : inclusion criteria: * pregnant woman (age \> 18 years) during the third trimester * caucasian and born in france * multiparous (with at least 2 full term pregnancies) * with informed written consent exclusion criteria: * generalized pruritus and/or liver disease during pregnancy * liver disease secondary to oral contraception * chronic liver disease * disease during current pregnancy

Keywords: genetics gene expression mdr3 estrogens cholestasis pregnancy controls
muscle atrophy in patients with chronic obstructive pulmonary disease

Conditions: Chronic Obstructive Pulmonary Disease

Summary: limb muscle dysfunction, characterized by atrophy and weakness, is amongst the most troublesome systemic consequences of chronic obstructive pulmonary disease (copd) leading to poor functional status and premature mortality. one prevailing hypothesis stipulates that the deterioration in muscle structure and function during copd results from a spillover of inflammatory mediators from the lungs to the systemic circulation and then to the muscles.

the investigators objective is to investigate the impact of copd on key signaling pathways involved in the muscle atrophy. moderate to severe copd patients (fev1 under 60% of predicted) and healthy controls will be recruited. all of the investigators patients will undergo a thorough baseline assessment in pulmonary capacity, muscle force and body composition. blood sampling and biopsy of the quadriceps will be done. key proteins of signaling intramuscular pathways involved in protein synthesis and degradation will be measured in the quadriceps.

Eligibility criteria:
inclusion criteria: * male * copd with an fev1 of under 60% of predicted * non-smoker * between 55 and 75 years old exclusion criteria: * all inflammatory disease (hiv, cancer, renal and cardiac deficiency) * hormonal dysregulation * inferior limb pathology * neuromuscular pathology * history of tobacco or alcool abuse * oxygen dependent * recent exacerbation (2 months) of the symptoms of copd

Keywords: copd atrophy muscle
"new perspectives of adaptation to niv in als"

Conditions: Amyotrophic Lateral Sclerosis (ALS)

Summary: the purpose of this study is to demonstrate that the adaptation to the non invasive ventilation (niv) at home is not worse when compared with an adaptation performed in inpatient settings.


Eligibility criteria:
inclusion criteria: * als diagnosis according to the criteria of el escorial; * clinical indication to niv (nocturnal hypoventilation and respiratory muscle weakness confirmed according to the criteria normally accepted); * no respiratory infection within 3 months * severe disability (als-frs \<31); * age \> 18 years; * the voluntary participation to the study. exclusion criteria: -- previous episodes of pneumothorax; * comorbid cardiac and / or renal important * severe cognitive impairment; * refusal of the patient at the time of informed consent.

Keywords: non invasive ventilation (niv) amyotrophic lateral sclerosis (als) adaptation home care
subjective perception of motor control during psychogenic disorders

Conditions: Somatoform Disorders

Summary: the aim of this study is to reveal neurobiological bases of the motor control of conscious perception, thanks to new techniques of functional cerebral imaging (mri), and potentials deteriorations connected to neuropsychiatric disorders like conversion disorder. the hospital university center of grenoble will provide patients from neurology department, characterized with non psychogenic epileptic seizures and abnormal psychogenic movements, from conversive origin. subjects will be scanned by magnetic resonance imaging during a motor paradigm inducing a perceptive conflict between two informations : proprioceptive information coming from the action (drawing) and visual information (draw's mark) that appears on the screen when there is movement.

new results will be provided about brain mechanisms involved in motor control perception among healthy patients and patients suffering from functional neurologic symptoms.

Eligibility criteria:
inclusion criteria: * signed informed consent * medical exam médical done before study participation * between 18 and 65 years * right-handed persons * conversion disorder based on dsm iv-r criterias * symptom affecting motor system, like abnormal movements (shivers, dystonia, parkinsonism, or problem when walking) exclusion criteria: * subjects included in a clinical and/or therapeutic exeprimentation in progress * people with mri contraindications : prosthesis or metal implants, metallic teeth (dental) brace, pacemaker, iud, possibility of pregnancy, claustrophobia * traitement médicamenteux psychotrope ou susceptible d'interférer avec le débit sanguin cérébral ou l'activité neuronale * history of brain or disseminated and extendible lesions of white matter, of an other degenerative morbidity, a confusion or an insanity as well as serious deficits preventing language understanding. * alcohol ingestion * pregnant, parturient or breastfeeding women * all other categories of protected persons

Keywords: somatoform psychogenic
a research study to compare two doses of semaglutide taken once weekly in people with type 2 diabetes

Conditions: Diabetes Mellitus, Type 2

Summary: this study compares the effect of two doses of semaglutide (1.0 mg and 2.0 mg) in people with type 2 diabetes (t2d). people taking part in the study will take the medicine together with their current diabetes medicine (sulphonylurea and/or metformin). participants will get a dose of either 1.0 mg or 2.0 mg semaglutide once a week - which dose is decided by chance. participants will inject semaglutide under the skin once a week. the study will last for about 49 weeks. participants will have 9 clinic visits and 2 phone calls with the study doctor. at the visits participants will have blood taken and eye tests done. women cannot take part if pregnant, breast-feeding or planning to become pregnant during the study period. female participants who can get pregnant will be checked 11 times for pregnancy via urine tests.


Eligibility criteria:
inclusion criteria: * male or female, age equal to or above18 years at the time of signing informed consent * diagnosed with t2d at least 180 days prior to the day of screening * hba1c of 8-10% (64-86 mmol/mol) (both inclusive) * stable daily dose(s) for 90 days prior to the day of screening of: * any metformin formulations (equal to or above1500 mg or maximum tolerated or effective dose) alone or in combination with sulfonylureas (su) (equal to or above half of the maximum approved dose according to local label or maximum tolerated or effective dose) exclusion criteria: * treatment with any medication for the indication of diabetes or obesity other than stated in the inclusion criteria within the past 90 days prior to the day of screening. however, short term insulin treatment for a maximum of 14 days prior to the day of screening is allowed, as is prior insulin treatment for gestational diabetes * renal impairment measured as estimated glomerular filtration rate (egfr) value of \<30 ml/min/1.73 m\^2 according to the chronic kidney disease epidemiology collaboration (ckdepi) creatinine equation as defined by kdigo 2012 classification * uncontrolled and potentially unstable diabetic retinopathy or maculopathy. verified by a fundus examination performed within the past 90 days prior to screening or in the period between screening and randomisation. pharmacological pupil-dilation is a requirement unless using a digital fundus photography camera specified for non-dilated examination
validity, and reliability of the turkish version of the trapeziometacarpal arthrosis symptoms and disability questionnaire

Conditions: Trapeziometacarpal Arthrosis

Summary: to our knowledge, a turkish version of the tasd questionnaire, frequently used for assessing tmc arthrosis worldwide, does not currently exist. therefore, proper translation and cross-cultural adaptation of the tool are necessary for non-english speaking patients. this study aimed to develop the turkish version of the tasd questionnaire, and to demonstrate its reliability and validity for use in patients with tmc arthrosis.

the original tasd was translated into turkish independently by a physiotherapist with expertise in hand research and proficiency in english, a healthcare professional, and english teacher with no healthcare background. demographic data were collected, followed by administration of the tasd questionnaire, the thumb disability examination (tdx) questionnaire, the visual analogue scale (vas) for pain assessment, and hand grip and pinch strength measurements using the jamar® hydraulic hand dynamometer and jamar hydraulic pinch gauge to assess thumb function and muscle strength. the questionnaires were administered twice, with a 7-day interval, during which no medical or rehabilitation intervention was provided that could alter the clinical condition of the patients.

Eligibility criteria:
inclusion criteria: * patients aged 18 years or older, * diagnosis of trapeziometacarpal arthrosis exclusion criteria: * surgery on the thumb and/or hand/wrist, * acute trauma to the thumb, * cognitive problems

Keywords: trapeziometacarpal arthrosis, cross-cultural adaptation, turkish version, reliability, validity
asthma in children

Conditions: Asthma

Summary: this is a six-month non-interventional prospective study of various controller therapies in children with asthma in outpatient clinical practice.


Eligibility criteria:
inclusion criteria: * child (male or female) aged 5 to 11 years inclusive * provision of subject informed consent form for anonymous data collection and their subsequent use (must be signed by any of the parents) * the child must be included in an out-patient observation program at a medical institution for established bronchial asthma diagnosis for at least 1 year prior to enrolment and diagnosed with moderate to severe bronchial asthma at the time of enrolment * the child must have at least one documented bronchial asthma exacerbation in previous 1 year (including hospital admissions for bronchial asthma exacerbations, any cases of daytime hospital treatment without overnight stays and any cases of oral administration of glucocorticoids on an out-patient basis for \> 3 consecutive days) * out-patient receiving step 3 controller treatments with fixed dose combinations of icss and laba or treatment with separate administration of glucocorticoids and laba in stable doses with adequate control of bronchial asthma symptoms * the patient administered with short-acting β2 agonists (inhalational) or rapidly released methylxanthines (oral) in the doses approved for the respective age as a rescue on-demand therapies during the preceding month exclusion criteria: * cystic fibrosis, α1-antitrypsin deficiency or congenital abnormalities of lung development * severe comorbidities affecting the patient's overall performance * in the physician's opinion, the patient is not able to comply with the protocol requirements * expected specific hyposensibilization within next 6 months * expected treatment at health resort facilities within next 6 months * other reasons that in the physician's opinion will prevent reliable assessments of the study treatment efficacy

Keywords: asthma, asthma in children
non-interventional study to assess the tolerability, the safety profile and the adherence of different up-dosing schemes for a sublingual immunotherapy treatment

Conditions: Seasonal Allergic Rhinitis

Summary: this prospective open multi-centre non-interventional study initiated to document the up-dosing period of children and adults with allergic rhinoconjunctivitis and/or allergic asthma treated with a slit containing purified, aqueous extracts of birch, alder, and hazel pollen. the following up-dosing schemes are freely selectable: scheme a consists of an up-dosing period of 12 days at the patient´s home using the standardized pollen extract in three different solution strengths to reach the maximum dose; scheme b is performed only with the highest solution strength at the physician's office within 2 hours; and the new scheme c which is a regimen for initiation at the physician's office and continuation at the patient's home also exclusively using the highest solution strength and takes 4 days. data are documented by physicians and in patients´ diaries.


Eligibility criteria:
inclusion criteria: * patients of the age of 2 years and older suffering from a tree pollen induced seasonal allergic rhinitis exclusion criteria: * patients suffering from acute or chronic infections or inflammations * patients suffering from secondary modifications of the target organ with function impairment (emphysema, bronchiectasis) * patients suffering from severe and uncontrolled asthma * patients with a known severe autoimmune disease * patients with active malignant disease * patients requiring beta-blockers * patients having any contraindication for the use of adrenaline * patients with a hypersensitivity to the excipients of the drug
argyle safety fistula cannula with anti-reflux valve clinical study

Conditions: End Stage Renal Failure on Dialysis

Summary: the purpose of the investigation is to confirm the safety and performance of the argyle™ safety fistula cannula with anti-reflux valve for hemodialysis treatment.

the study will be performed at up to 5 us hemodialysis clinics. qualified patients who choose to participate and sign informed consent will be enrolled in the study. the investigational sites chosen to participate in this study will be trained on the insertion procedure using plastic fistula cannulas according to established curriculum. a combination of didactic training followed by insertion using a cannulation arm will be conducted. cannulation on consented subjects will begin after the inserter demonstrates proficiency on the cannulation arm. proficiency definitions are outlined in the protocol. after two supervised (by medtronic and/or dedicated, trained super user) successful cannulations on consented subjects, the clinician will be permitted to cannulate without supervision. data supporting the primary, secondary, and exploratory objectives will be captured following thirty-six (36) hemodialysis sessions for each enrolled subject. cannulations will be performed by a minimum of five different clinicians at up to 5 dialysis clinic sites. the investigational sites chosen to participate in this study will be trained on the insertion procedure using plastic fistula cannulas for a pre-determined period and according to established curriculum. a combination of didactic training followed by insertion using a cannulation arm will be conducted. after two supervised (by medtronic and/or dedicated, trained super user) successful cannulations on consented subjects, the clinician will be permitted to cannulate without supervision and the data collection for the primary and secondary objectives will begin. hemodialysis sessions will be performed, according to the investigator's prescription, throughout the duration of the study. dialysis adequacy will be verified at baseline and during the mid-week session on weeks 1, 3, 6 and 12. other than the blood sampling, there are no study-specific procedures, other than cannulation with the argyle™ safety fistula cannula with anti-reflux valve, that will be required.

Eligibility criteria:
inclusion criteria: * subject who is aged 18 years or older who signed informed consent * subject is undergoing in-center hemodialysis * subject has an arteriovenous fistulae (avf) fistula that was determined to be mature by standard clinical definition exclusion criteria: * subject is enrolled in another study that could confound the results of this study, without documented pre-approval * subject with an existing arteriovenous graft * subjects with known allergies to plastics * subjects who are unable to read or respond to the questionnaire about satisfaction
do aromatase inhibitors (ais) decrease intestinal calcium absorption?

Conditions: Breast Cancer; Osteoporosis; Osteopenia; Fracture

Summary: research question: do aromatase inhibitors decrease intestinal calcium absorption? study design: postmenopausal women with early stage breast cancer initiating aromatase inhibitor adjuvant therapy will participate in this two-month study. the primary study outcome is the change in intestinal calcium absorption following such therapy. secondary outcomes are the changes in bone resorption markers and musculoskeletal signs and symptoms after initiation of therapy. we will interview women and review their medical records to determine eligibility. eligible subjects will undergo two calcium absorption studies. the first study will determine their baseline calcium absorption, and the second study will occur after taking an aromatase inhibitor daily for at least 6 weeks. women will present to the research unit in the early morning and receive an oral and intravenous stable calcium tracer with breakfast. over the next 24 hours, we will collect all urine for measurement of its calcium content. during each inpatient stay, we will assess musculoskeletal symptoms by questionnaire and joint examination. each woman will complete a four-day diet diary twice during the study.


Eligibility criteria:
inclusion criteria: * women at least 5 years past menopause, defined as date of last menses or bilateral oophorectomy * newly diagnosed breast cancer and starting an ai as initial adjuvant therapy exclusion criteria * recent, current or planned chemotherapy for breast cancer, as this may have independent effects on intestinal health, calcium homeostasis and bone turnover * allergy or intolerance to orange juice, as one isotope is given with orange juice * current use of over-the-counter or prescription antacids, as they may influence ca-ab * intestinal conditions associated with malabsorption or low gastric acid levels including crohn's disease, ulcerative colitis, pernicious anemia, bacterial overgrowth, celiac sprue, chronic diarrhea or use of antibiotics within the past month * known stage 4 or 5 chronic kidney disease, defined as an estimated gfr \<30 cc/minute * use of medications known to interfere with calcium or vitamin d metabolism, including oral steroids or anticonvulsants * significant lymphedema precluding adequate intravenous access
detection of subclinical atrial fibrillation in high risk patients using implantable loop recorder

Conditions: Arterial Hypertension; Diabetes Mellitus

Summary: using implantable loop recorder the investigators wish to detect atrial fibrillation in high risk patients and compare it to the results using conventional holter monitoring. the hypothesis is that 10-15% of high risk patients have subclinical atrial fibrillation. the investigators want to detect those people so they can receive appropriate anticoagulation treatment. the patients will get a comprehensive workup including ecg, echocardiography and blood tests.


Eligibility criteria:
inclusion criteria: * age \> 65 years * arterial hypertension (at least dual treatment) * diabetes mellitus (oral antidiabetics or insulin) exclusion criteria: * known atrial fibrillation * ischaemic heart disease * current anticoagulation treatment * ejection fraction \<45 % * significant valvular heart disease * previous stroke/transient ischemic attack * peripheral arterial disease * end stage renal disease * thyreotoxicosis
nifedipine plus magnesium sulfate versus magnesium sulfate for very early preterm tocolysifs

Conditions: Threatened Preterm Labor

Summary: objective: this trial is designed to compare between the effectiveness of nifedipine plus magnesium sulfate (mgso4) and mgso4 alone for tocolysis in women with threatened preterm labor. patient population: the population will include pregnant women at gestational age between 28 and 31 weeks who are 18 years old or older and have signs of threatened preterm labor. study design: this is a single-center, prospective, randomized controlled clinical trial. a total of 264 women pregnant between 28 and 31 weeks having threatened preterm labor will be enrolled and randomized into two parallel treatment arms. patients in the group a will receive nifedipine plus mgso4, while patients in group b will mgso4 only. treatment: all patients will be randomized on the day of enrollment. patients with threatened preterm labor will receive the respective tocolysis in each group. all patients will receive corticosteroids for lung maturity according to the local protocol. primary outcome: number of women not delivered within 48 hours of starting tocolytic therapy. secondary outcomes: perinatal mortality, a composite of adverse neonatal outcomes, birth weight, days on ventilation support, length of admission in neonatal intensive care, prolongation of pregnancy more than 7 days, delivery after 37 weeks of gestation, number of days till delivery, maternal mortality, maternal infection, and harm to mother from intervention.


Eligibility criteria:
inclusion criteria: * pregnant women with threatened preterm labor defined as 3 or more uterine contractions in 30 minutes confirmed by cardiotocography. * gestational age from 28 week + 0 days to (inclusive) 31 weeks + 6 days. * women with singleton or multiple pregnancy. * women with preterm prelabor rupture of membranes (prom) will be included if they have uterine contractions. exclusion criteria: * contraindications for the use of either drugs, such as cardiac disease, hypotension, myasthenia gravis, or renal impairment. * contraindications for tocolysis, such as intrauterine demise, intrauterine infection, fetal distress, placental separation, or severe pre-eclampsia. * cervical dilatation \> 5 cm. * cervical length \> 30 mm by trans-vaginal ultrasound. * cervical cerclage.
systemic nalbuphine versus intravenous regional anesthesia

Conditions: Postoperative Pain

Summary: comparison of systemic nalbuphine versus intravenous regional anesthesia in patients undergoing hand surgery.


Eligibility criteria:
inclusion criteria: * patients scheduled for elective unilateral hand surgery. exclusion criteria: * patient refusal. * allergy to study medications * body mass index \> 35 kg/ m2 * patients with sickle cell or reynaud diseases * patients with a history of psychiatric illness or on chronic opioids