Kornimate/medical-research-clean huggingface dataset:
study of gene associations and infertility

Conditions: Infertility

Summary: the purpose of this this study is to use dna screening strategies to identify genes and localize genomic regions that are differentially expressed in patients with infertility to further understand the genetic basis for reproductive competence.

experimental strategies seek to discover small variants in dna sequences, which are associated with certain infertility parameters. the alleles being analyzed in in vitro fertilization (ivf) population are sought to be associated with functional differences in the expression of the gene product that are then mechanistically linked to infertility.

Eligibility criteria:
inclusion criteria: * all patients undergoing fertility care exclusion criteria: * none

Keywords: ivf infertility dna
efgartigimod for stiff person syndrome (esps)

Conditions: Stiff-Person Syndrome

Summary: the goal of this clinical trial is to examine the proportion of patients with stiff person syndrome with no worsening in stiffness and/or spasms while on efgartigimod-hyaluronidase (efd) when compared to their current treatment. the main questions it aims to answer are: * proportion of patients with stiff person syndrome with no worsening in dsi and hss scores * whether there are changes in laboratory values, vital signs, electrocardiogram, or depression, and suicide risk during the trial, as well as the incidence of any adverse events. participants will come to the clinic up to 18 times and have up to 5 phone call visits during the course of the trial. during these visits a variety of measures will be collected, including blood samples, neurological and physical exams, patient reported outcomes on stiffness, spasms, depression, and suicide risk.


Eligibility criteria:
inclusion criteria: 1. age 18-80, men and women, capable of giving informed consent. 2. must have unexplained stiffness of limb and axial (trunk) muscles and involuntary striated muscle spasms. 3. dsi and hhs must be \>=2 (to allow for detection of improvement). 4. presence of serum (or csf) anti-gad antibodies regardless of titers. 5. stable dosage for at least two months before screening visit with antispasmodics (muscle relaxants, benzodiazepines, baclofen). 6. women with children bearing potential must be willing to use highly effective contraception method during and for a minimum of 90 days after the last dose of ip. exclusion criteria: 1. exclusionary conditions: 1a. type 1 dm 1b. cancer, except basal cell skin cancer 1c. infections: hiv, hepatitis b or c, clinically significant active infection not sufficiently resolved in the investigator's opinion 1d. serum igg (\<6 g/l) at screening 1e. pregnancy/breast feeding. 2. exclusionary medications: rituximab within 6 months of screening. 3. ivig or plex treatment 4 weeks prior to screening. 4. history of any type of solid organ or bone marrow transplant.

Keywords: stiff-person syndrome efgartigimod
stable angina management and treatment

Conditions: Stable Angina; Coronary Artery Disease

Summary: the prospective registry of stable angina management and treatment (presage) is an observational study on an all-comer stable angina population hospitalised in a highly specialized cardiovascular centre with cardiac surgery facilities. the aim of the study is to assess the clinical characteristics, treatment modalities, early and long-term outcomes in this population.

the prospective registry of stable angina management and treatment (presage) is a single-center, observational study recruiting consecutive patients with stable angina, who were diagnosed and treated in the 3rd chair and department of cardiology in the silesian centre for heart diseases in zabrze, poland. the silesian centre for heart diseases is a highly specialised cardiology centre with cardiac surgery facilities the main objective of the presage registry is to clarify the overall clinical characteristics of patients with stable angina, their demographics and clinical profile, current management, early and long-term outcomes, with regard to the administered treatment. the diagnosis of stable angina was based on clinical characterization, coronary angiography, and the current guidelines of the european society of cardiology. patients with vasospastic and/or microvascular angina were also included to the registry. performance of coronary angiography is the criterion of the enrolment in the registry. patients with acute coronary syndromes are excluded from the analysis. data collection is patient-based (not event-based). complete patient demographics: medical history, complete hospitalization data (diagnostic and therapeutic) and in-hospital results are collected in an electronic form by the attending physician. the patients are under constant follow-up for all-cause mortality and major cardiac adverse events.

Eligibility criteria:
inclusion criteria: * symptom based diagnosis of stable angina exclusion criteria: * acute coronary syndrome on admission * ≤ 18 years old
efficacy of caffeine, with and without biperiden, in the detoxification of cocaine dependent patients

Conditions: Cocaine Related Disorders

Summary: the aim of this study is to assess the efficacy of caffeine compared to placebo in detoxifying cocaine dependent patients. caffeine potentiation with biperiden will be also studied. 108 with cocaine dependence will be randomized to receive caffeine (300 - 1200 mg t.i.d.) plus biperidene (8 mg b.i.d.) or caffeine (300 - 1200 mg t.i.d.) with placebo or placebo during 6 months. primary efficacy outcomes will be 1) patient comfort assessed with abstinence symptomatology, craving for cocaine and mental status during detoxifying period, 2) study retention and 3) cocaine use. brain dopamine system will be assessed thru ibzm-spect and the apomorphine test.


Eligibility criteria:
inclusion criteria: * diagnosis of intranasal cocaine dependence, according to dsm-iv-tr criteria * age between 18 and 60 years * current cocaine use, confirmed by a positive urine drug screen for cocaine the week prior to admission. * demonstrated capacity to grant informed consent and sign the pertinent informed consent form. * place of residence compatible with attendance at the centre. * for women, willingness to use effective contraceptive measures during the study. exclusion criteria: * diagnosis of a severe medical disorder that could interfere with the study * presence of an organic pathology for which methylxanthines or biperidene, iodine or apomorphine administration is contraindicated * serum liver transaminase levels 3 times higher than normal values * pregnancy and breast-feeding * neuroleptic medication treatment in the past 6 weeks * current treatment, or anticipation that the patient may need to initiate treatment during the study with drugs that may interact with study medication. * current diagnosis of a major mental disorder. * awareness of a situation that could prevent the patient's participation in the study (e.g. serving a sentence) * current participation in another research project.

Keywords: cocaine dependence cocaine use cocaine craving
a study of physical activity in cancer survivors

Conditions: Cancer; Hematopoietic and Lymphatic System Neoplasm; Malignant Solid Neoplasm

Summary: the purpose of this study is to determine if increasing physical activity (pa) will increase physical functioning, as measured by cardiovascular endurance, muscular strength, and balance in underserved adult cancer survivors \> 60 years of age and/or those of any age residing at a rural address. also, to determine if increasing pa will increase quality of life (qol), as measured by physical functioning and fatigue, in underserved cancer survivors \>60 years of age and/or those of any age residing at a rural address.


Eligibility criteria:
inclusion criteria: * adult, cancer survivors (no active disease) at mayo clinic health system (mchs) in northwest wisconsin (nwwi), southwest wisconsin (swwi), southeast minnesota (semn), or southwest minnesota (swmn) * any stage cancer * age ≥18 years residing at a rural address (as defined by rural america, census.gov) * completed active treatment of surgery, (neo)adjuvant chemotherapy, and/or (neo) adjuvant radiation. patients receiving adjuvant endocrine therapy, targeted therapy, or immunotherapy therapies are eligible. * ownership of a computer/tablet/smartphone with internet access. * willingness to create a google account and maintain the account for use of the fitbit * willingness and ability to attend study visits. * must be able to complete semi-tandem (10 seconds), side-by-side tandem \[10 seconds and short physical performance batters(sppb)\] score of 6 or greater to qualify for virtual exercise. * must be ambulatory without the use of assisted device(s). exclusion criteria: * receiving surgery, (neo)adjuvant chemotherapy, (neo) adjuvant radiation, palliative treatment * are already performing \>150 minutes/week of moderate activity or 75 min/week of vigorous physical activity * cancer-free for greater than 5 years * unable to complete weekly interventions/exercise due to traveling or unable to be active for more than 7 consecutive days.

Keywords: rural physical activity
primary headache and psychological factors, mental functioning and attachment modalities.

Conditions: Primary Headache Disorder

Summary: the world health organization (who) ranks headache among the top 20 causes of disability in the world. primary headaches (with no known organic cause) account for 90% of these conditions. inserm estimates that 15% of the general population is concerned. who estimates that 1.7-4% of the global adult population is affected by headache for at least 15 days a month. headaches are disabling, for patients (pain, suffering, fatigue, unavailability ...) but also for society (socio-economic cost as frequent work stoppages and drug costs). they are a public health problem. in 2002, the high authority of health published its recommendations for the diagnosis and management of migraine patients. in addition, the french society for migraine and headache studies updated these recommendations in 2013. they are focused on the medical management offered by doctors and pharmacists. however, the professionals in daily contact with the subjects know that the dimension psychic plays an important role in the etiology of headaches.

the review of the literature shows the keen interest and the need for this type of research to better understand the main psychological factors involved in primary headaches. the current vagueness, the lack of knowledge regarding the aspects associated psychological and the lack of studies on the french population can be filled with this study which takes place at the university hospital of besançon.

Eligibility criteria:
inclusion criteria: * first consultation in neurology good general somatic state exclusion criteria: * pregnancy history of psychiatric disorder

Keywords: psychological factors
supporting caregivers of persons with dementia: a pilot study

Conditions: Alzheimer Disease; Dementia

Summary: the purpose of this study is to pilot the home environmental skill-building program (esp) and an educational control intervention with persons with dementia and their caregivers (n=40) in preparation for a larger double-blind randomized controlled trial. caregivers of persons with dementia often deal with difficult behaviors. the esp is an occupational therapy intervention that helps caregivers adapt to their environment and build care-giving skills. the areas addressed include changes to the home set-up, adaptive equipment, instruction in strategies of problem-solving, energy conservation, safe task performance, and fall recovery techniques. a trial is needed with methodological rigor and to determine if the intervention is feasible in the canadian health care system. results will contribute to understanding how caregivers and people with dementia can be supported in their home environments.


Eligibility criteria:
inclusion criteria: * the caregiver must be the primary caregiver * caregiver reports that the care recipient has at least one limitation in basic activities of daily living (adl) or two dependencies in instrumental activities of daily living (iadls) * the caregiver must: * provide at least 2 hours of care per day * be caregiving for at least 6 months and * be at least 21 years of age * the care recipients need to have a diagnosis of dementia exclusion criteria: * caregiver: * does not live with the care recipient * has poor health (undergoing treatments for cancer, hospitalized more than three times in past year) * planning to place care recipient in long term care within the next year * care recipients who are confined to bed most of the day or are minimally-responsive to touch or the environment are excluded

Keywords: randomized control trial dementia caregivers occupational therapy caregivers
changes of nlf in serum of long covid patients

Conditions: Clinical Syndrome

Summary: the study investigates the blood nfl levels in long-covid patients.

the study investigates the blood nfl levels in long-covid patients.

Eligibility criteria:
long-covid syndrom
feasibility study of a new screening program for major aneuploidies (t21, t18, t13) in the emilia-romagna region (saperer)

Conditions: Autosomal Aneuploidy

Summary: the study is promoted by the emilia romagna region which identified in the bologna ausl the coordinating center (unità operativa complessa laboratorio unico metropolitano, lum, maggiore hospital). the medical genetics centers, participating in the technical-scientific coordination group of assessment (resolution no. 1894, 4/11/2019), the family counseling centers and the region prenatal hospital clinics are involved as collaborative experimental centers. currently, 14,400 combined tests are carried out in the emilia romagna region every year. as a result offering the new non-invasive nipt test, it is estimated that the number of participants in the screening program will increase by up to 20,000/year. the study will collect data on the women who will access the combined test in the first 9 months of the protocol and join the enrollment.


Eligibility criteria:
inclusion criteria: * pregnant women resident in the emilia romagna region who access the combined test at regional counseling centers and hospital prenatal clinics. * women able to understand the information, participate in pre-test counseling and provide informed consent. exclusion criteria: * women under the age of 18 and/or unable to give informed consent * pregnancies with more than two twins * certain evidence of initial twinning, with subsequent disappearance of one of the twins (vanishing twin) * known maternal chromosome mosaicisms present in the mother and involving the chromosomes subject to investigation * presence of neoplasia in pregnant women * previous allogeneic transplantation in pregnant women * immunotherapy, radiotherapy or hemotransfusion performed in the pregnant woman within the previous 3 months.

Keywords: aneuploidies, down syndrome, edwards syndrome, patau syndrome
electronic monitoring of medication adherence in moderate to severe asthma patients

Conditions: Asthma

Summary: this study will evaluate the role of using electronic sensors for asthma inhaler devices in monitoring medication adherence and asthma control

this study will assess the feasibility of using electronic sensors for asthma inhalers in a population of urban minority adults and children with moderate-severe asthma in the bronx. investigators will also assess differences in asthma outcomes (specifically asthma control as a primary outcome measure) and treatment adherence in a group of participants with moderate-severe asthma who use inhalers with electronic sensors and real-time remote outreach worker monitoring/feedback compared to a group of participants who use inhalers with electronic sensors but without real-time monitoring/feedback.

Eligibility criteria:
inclusion criteria: * adults (\>18 years) and children (5-11 years old) with a clinical history (i.e. physician-diagnosed) of asthma * moderate to severe asthmatics with ≥1 asthma-related ed visits or hospitalizations in the past year * use of daily controller inhaler medications * adult non-smokers, or lifetime use \<5 pack years with no smoking in last 1 yr * smartphone required * english or spanish speaking exclusion criteria: * no smartphone * use of oral corticosteroids in prior 4 weeks * pregnancy * psychiatric conditions
11c-pib pet/ct in patients with parkinson's disease and parkinsonian dementia syndromes

Conditions: Parkinson Disease

Summary: to evaluate the potential contribution of amyloid burden, as indexed by 11c-pittsburgh compound b (pib) retention, to the progression of cognitive impairments in patients with parkinson's disease(pd).

study design: multi-center, five-arm subjects: patients with pd without dementia; patients with pd with mild cognitive impairment (mci); patients with pd with dementia; patients with a dementia with lewy bodies(dlb); healthy person sample size: 200, including a pd without dementia group of 75 patients, a pd with mci group of 30 patients, a pd with dementia group of 20 patients, a dlb group of 25 patients and a normal control group of 50 subjects.

Eligibility criteria:
inclusion criteria: 1. patients with parkinson's disease and parkinsonian dementia syndromes 2. males and females, ≥40 years old 3. the diagnosis of pd is established using the uk parkinson's disease society brain bank research center clinical diagnostic criteria. criteria for pd-mci and pd-dementia are consistent with those of the movement disorder society. the dlb consortium consensus criteria are used for dlb. 4. they rely on a combination of neurologic examination and neuropsychological assessment with a battery of tests. clinical diagnosis was established by sophisticated neurologists. exclusion criteria: 1. females planning to bear a child recently or with childbearing potential 2. renal function: serum creatinine \>3.0 mg/dl (270 μm/l) 3. liver function: any hepatic enzyme level more than 5 times upper limit of normal. 4. known severe allergy or hypersensitivity to iv radiographic contrast. 5. patients not able to enter the bore of the pet/ct scanner. 6. inability to lie still for the entire imaging time because of cough, pain, etc. 7. inability to complete the needed examinations due to severe claustrophobia, radiation phobia, etc. 8. concurrent severe and/or uncontrolled and/or unstable other medical disease that, in the opinion of the investigator, may significantly interfere with study compliance. -

Keywords: 11c-pib parkinson's disease dementia mild cognitive impairment
a phase 1 research study to evaluate safety, tolerability, and pharmacokinetics of wve-006 in healthy participants with wild-type aat expression (restoraation-1)

Conditions: Alpha-1 Antitrypsin Deficiency

Summary: this study is the first study in the restoraation clinical program. the purpose of this first-in human (fih), double-blind, randomized, placebo-controlled, single ascending dose (sad) and multiple-dose phase 1 study is to assess the safety, tolerability, and pk of wve-006 compared to placebo in healthy participants following a single dose (period 1) and multiple doses (period 2) of wve-006. this information will be used to determine doses and regimes that have the potential to be pharmacologically active in patients with alpha-1 antitrypsin deficiency in the restoraation 2 study, and the maximum safe and tolerable dose that may be given to these patients.


Eligibility criteria:
inclusion criteria: * healthy as determined by the investigator, based on a medical evaluation. * genetic testing confirming pi\*mm. * participant has been a non-smoker for at least 1 year prior to screening. exclusion criteria: * participant has a history of multiple drug allergies or of allergic reaction to an oligonucleotide or to n-acetylgalactosamine (galnac). * participant has a history of intolerance or any medical condition that might interfere with subcutaneous injections. * any ongoing or recent infections. * any recent or planned vaccinations during the study. * participant has a history of regular alcohol consumption exceeding 14 standard drinks/week. * unwilling to abstain from alcohol for 48 hours prior to dosing at each of the dosing visits. * participant has a history of caffeine consumption exceeding 8 cups of coffee/day. * use of prescription or non-prescription medications, including vitamin, dietary, and herbal supplements (including st john's wort) within 7 days prior to the first dose of study treatment unless, in the opinion of the investigator and sponsor, the medication will not interfere with interpretation of study assessments. contraception and hormone replacement therapy (hrt) are permitted. if needed, over-the-counter (otc) medications such as paracetamol/acetaminophen may be used acutely. * any recent or planned major surgery during the study. * donation of blood or blood products in excess of 500 ml within 12 weeks prior to screening visit and/or unwilling to refrain from blood donation for the duration of the study. * participant has received an investigational agent within 3 months of the screening visit.
maternal emotions and diet in pregnancy

Conditions: Pregnancy Related; Stress, Psychological; Glucose Intolerance During Pregnancy

Summary: this study seeks to understand how a mother's emotional state in pregnancy influences her biological response to food intake.

the purpose of this research study is to understand how a mother's emotional state in pregnancy influences her biological response to food intake. natural variation in emotional and mental state is frequently experienced in daily life, including during pregnancy. while the investigators understand that a healthy diet is important in pregnancy for maintaining blood sugar levels and other metabolic factors within normal ranges for optimal development of the baby, less consideration is given to the health effects of a mother's mental state during pregnancy. it may even be possible that, regardless of what a woman eats or drinks, the way her body responds to food may differ according to her emotional or mental state. this research is particularly interested in understanding how the combination of maternal emotional state and diet influence metabolism in pregnancy. thus, the aim of this study is to test whether and how an individual's emotional response to a mental challenge of varying complexity during pregnancy modifies the body's metabolic response to a standard breakfast.

Eligibility criteria:
inclusion criteria: * age 18-40 years * hispanic ethnicity * english and/or spanish speaking * multiparous * 28-30 week's gestation * pre-pregnancy bmi 25.0-34.9 kg/m2 * singleton, intrauterine pregnancy * non-smoker * non-diabetic and negative result on routine prenatal glucose challenge test (gct) exclusion criteria: * bmi \<25.0 or ≥35.0 kg/m2 * \>30 week's gestation * multiple pregnancy * nulliparous * present/prior obstetric risk conditions (hypertension, preeclampsia, infections, placental abnormalities) * current smoker * current psychiatric disorders or undergoing treatment/taking psychiatric medications * use of systemic/frequent corticosteroids or thyroid meds * diabetic or presence of other metabolic or neuroendocrine disorders

Keywords: pregnancy metabolism stress emotional state diet glycemic response