Kornimate/medical-research-clean huggingface dataset:
identification of y chromosome from free circulating dna in patients with turner syndrome

Conditions: Turner Syndrome

Summary: turner syndrome affects 1/2500 female newborns. it is characterized by a short stature, gonadal dysgenesis and bone anomalies. it is secondary to x chromosome abnormality. the clinical course can be marked by various complications, including degeneration of gonadal streaks into cancer (gonadoblastoma). the risk of gonadoblastoma is increased by the presence of y chromosome, with a risk of 19 to 43%. however, y chromosome material may be difficult to identify due to its mosaic state, at varying rates depending on the tissue. free circulating dna (cfdna) corresponds to fragments of extracellular dna present in the plasma, released into the circulation during cell death processes by the various tissues of the body. due to its multiple tissue origins and easy collection, cfdna appears to be a suitable matrix for searching for low mosaic y chromosome sequences in patients with turner syndrome. the main objective of the study is to develop a cfdna-based test to look for y chromosome sequences in 50 patients with turner syndrome. the secondary objectives are to determine the mosaic detection threshold of this test and to compare the performance of this test with the fluorescence in situ hybridization (fish) technique used in routine diagnosis. this study will assess the detection sensitivity of this test and its relevance in a clinical context.


Eligibility criteria:
inclusion criteria: * patient aged 2 to 74 years * with a diagnosis of turner syndrome confirmed by karyotype * who have given their consent or whose legal representative(s) have given their consent(s) consent(s) to participate in the study * affiliated to the french social security system or benefiting from such a system exclusion criteria: * male phenotype * patient or legal representative(s) with comprehension difficulties (linguistic, etc.) * patients covered by articles l.1121-5 to l.1121-8 of the csp (french public health code)

Keywords: turner syndrome y chromosome
study of tak-816 in healthy infants

Conditions: Immunization

Summary: the purpose of this study is to evaluate the efficacy (immunogenicity) of tak-816 when administered to healthy japanese infants as multiple subcutaneous doses.

haemophilus influenzae type b (hib) is one of the major causes of infectious meningitis in children, and can also cause sepsis, cellulitis, arthritis, epiglottitis, pneumonia and myelitis. tak-816 is a conjugated hib vaccine being tested in healthy infants aged 3-6 months at the time of the first dose. the objective of this study is to evaluate the efficacy (immunogenicity) and safety of tak-816 (10 ϻg/0.5 ml) in comparison with acthib (haemophilus b conjugate vaccine) as a control. in addition, the efficacy (immunogenicity) and safety of absorbed diphtheria-purified pertussis-tetanus combined (dpt-takeda) vaccine when tak-816 and dpt vaccine are administered concomitantly will also be investigated. for the primary immunization phase of this study: three doses of tak-816 or acthib 10 µg/0.5 ml and dpt-takeda 0.5 ml will be administered at 4-week intervals over 8 weeks (visit 1, 2, 3). at4 weeks after the third dose, a follow-up observation and evaluation will be made (visit 4). for the booster vaccination phase of this study: a single dose of tak-816 or acthib 10 µg/0.5 ml and dpt-takeda 0.5 ml will be given at 52 weeks after the third dose (visit 5). at 4 weeks after the fourth dose, a follow-up observation and evaluation will be made (visit 6).

Eligibility criteria:
inclusion criteria: 1. male or female infants aged ≥3 and \<7 months (excluding hospitalized infants). 2. infants whose legal acceptable representatives have given informed consent to the study prior to enrollment. 3. infants whose parents or legal guardians have agreed to cooperate with the investigator during the study period. exclusion criteria: 1. any serious acute illness. 2. any underlying cardiovascular, renal, hepatic, or hematologic disease, and/or developmental disorder. 3. history of possible haemophilus influenzae type b (hib) infection. 4. history of possible pertussis, diphtheria or tetanus infection. 5. previously diagnosed immunodeficiency. 6. a documented history of anaphylaxis to any ingredient of the investigational products (tak-816, acthib or dpt-takeda). 7. a history of convulsions. 8. previous administration of another hib vaccine. 9. previous administration of any other vaccine containing any of the components of polio, diphtheria, pertussis, or tetanus. 10. treatment with any live vaccine during the 27 days before the first dose of tak-816 or with any inactivated vaccine during the 6 days before dosing.

Keywords: immunostimulation haemophilus b conjugate vaccine hib
scorpio® cruciate retaining (cr) outcomes study

Conditions: Arthropathy of Knee

Summary: the purpose of this study is to evaluate the design and functional performance of the scorpio® cruciate retaining (cr) total knee system.

the study design is a prospective, multi-center clinical trial. the scorpio® cruciate retaining (cr) total knee system is to be implanted for evaluation in this study. this device system is commercially available and is intended for cemented use. the study group will consist of a maximum of 265 cases, requiring primary total knee replacement, and diagnosed with non-inflammatory arthritis. all subjects will be implanted with a femoral component, a tibial insert, a tibial tray and a resurfaced patella. subjects receiving bilateral total knee replacements will represent two cases. study participants will be recruited from 5 institutions. subjects will be evaluated preoperatively and at follow-up intervals of 7 wks (± 2 wks), 3 months (± 3 weeks), 6 months (optional visit), 12 months (± 2 months) and annually thereafter (± 2 months). each subject will be followed for 15 years post-implantation. the objectives of this study are to: 1. evaluate the effect of system component design on functional performance. 2. evaluate the effect of system component design by comparing postoperative functional and radiographic findings with preoperative. 3. evaluate complications and the rates in which they occur.

Eligibility criteria:
inclusion criteria: 1. the subject is a male or non-pregnant female between the ages of 21-80. 2. the subject requires a primary cemented total knee replacement. 3. the subject has a diagnosis of osteoarthritis (oa), traumatic arthritis (ta), or avascular necrosis (avn). 4. the subject has intact collateral ligaments. 5. the subject has signed the irb approved, study specific informed patient consent form. 6. the subject is willing and able to comply with postoperative scheduled clinical and radiographic evaluations and rehabilitation. exclusion criteria: 1. patient has inflammatory arthritis. 2. the subject is morbidly obese, \>60% over ideal body weight for frame and height. 3. the subject has a history of total or unicompartmental reconstruction of the affected joint. 4. patient has had a high tibial osteotomy or femoral osteotomy. 5. the subject has a neuromuscular or neurosensory deficiency, which would limit the ability to assess the performance of the device. 6. the subject has a systemic or metabolic disorder leading to progressive bone deterioration. 7. the subject is immunologically suppressed, or receiving steroids in excess of normal physiological requirements. 8. the subject's bone stock is compromised by disease or infection which cannot provide adequate support and/or fixation to the prosthesis. 9. the subject has had a knee fusion to the affected joint. 10. the subject has an active or suspected latent infection in or about the knee joint. 11. the subject is a prisoner. 12. the subject is pregnant.

Keywords: osteoarthritis, traumatic arthritis, avascular necrosis
combined breast mri and biomarker strategies in identifying high-risk breast cancer patients

Conditions: Healthy Subject

Summary: this clinical trial studies normal breast tissue changes combined with breast magnetic resonance imaging (mri) that may suggest the beginnings of cancer development. using breast tissue markers in combination with breast imaging such as mri may help to more accurately assess a woman's risk of developing breast cancer.

primary objectives: i. to determine the number of high risk women with abnormal screening breast mri and morphologically normal biopsy over 7 years. secondary objectives: i. to determine if wnt10b/mutant p53 expression as measured in the 0-month biopsy predicts women with an abnormal mri/non-cancerous biopsy who will progress to cancer over 7 years. tertiary objectives: i. to determine the predictive accuracy of wnt10b with mri, of which will be compared with mri alone using the c-index. outline: participants undergo standard of care high risk breast cancer screening mris at baseline and follow-up and blood sample collection at baseline. participants undergo collection of breast tissue samples at any breast biopsy or breast surgery.

Eligibility criteria:
inclusion criteria: * women who are undergoing screening breast mri as per standard of care for high-risk breast cancer screening * willing to donate left-over tissue if patient undergoes a breast biopsy and/or breast surgery * willing to have about 40 ml of blood (approximately 3 tablespoons) drawn * documented informed consent of the participant exclusion criteria: * allergy or intolerance to gadolinium * inability to undergo breast mri (e.g. claustrophobia) * participants with active cancer diagnosis (exception: skin cancer, biopsy-proven atypical lobular, ductal hyperplasia and/or lobular carcinoma in situ) * previous diagnosis of stage 4 cancer * participants who have received cytotoxic chemotherapy within 1 year prior to screening breast mri * participants who have received endocrine therapy within 1 year prior to screening breast mri * participants who have received breast radiation within 1 year prior to screening breast mri * radiation to both breasts * pregnant and/or lactating within 1 year prior to screening breast mri * receives screening breast mris at an outside facility other than the consenting institution
cell therapy with mesenchymal stem cell in ischemic limb disease

Conditions: Critical Limb Ischemia

Summary: bone marrow mscs will be isolated from allogenic donors, expanded under hypoxic conditions using medium containing no serum or animal-derived reagents, and applies for phase ⅰ/ⅱ study in treating 18 recipients with ischemic limb diseases.

ischemic limb disease remains one of the major causes of morbidity and mortality in the industrialized world despite the development of several new therapeutic modalities. based on experimental data demonstrating that infusion or injection of stem/progenitor cells enhances blood flow in models of cardiovascular diseases, clinical trials were initiated in 2001 to treat patients with critical limb ischemia or cardiac ischemia with circulating blood or bone marrow-derived cells. despite all promises, pending uncertainties and practical limitations attenuate the therapeutic use of stem/progenitor cells for ischemic limb disease. the main theme and method in the current program project, based on expertise, track record, and preliminary results of pi's laboratory, is to focus on clinical studies of using allogenic mesenchymal stem cells (mscs), expanded under hypoxic conditions (1% o2), in treating ischemic limbs. this project is an integrated and coordinated effort aimed to overcome the regulation of cell product, and the barriers of preclinical and clinical studies. for the purposes, we have specially set up the core laboratory for stem/progenitor cells production and quality control in cell therapy clean room on the 9th floor of medical science technology building in taipei veterans general hospital. we have also completed the preclinical studies in using allogenic hypoxic mouse mscs in treating limb ischemia. in the current project, bone marrow mscs will be isolated from allogenic donors, expanded under hypoxic conditions using medium containing no serum or animal-derived reagents, and applies for phase ⅰ/ⅱ study in treating 18 recipients with ischemic limb diseases in three years.

Eligibility criteria:
inclusion criteria: * fontaine stage \> ii, total walking distance \< 100 m, stair \< 1 floor, or ulcer / necrosis * established critical limb ischemia, clinically and hemodynamically confirmed as per rutherford- ⅱ-4, ⅲ-5, or ⅲ-6; patients having infra-inguinal arterial occlusive disease with rest pain or ischemic ulcer/necrosis, who are not eligible for or have failed traditional revascularization treatment * ankle brachial pressure index (abpi) ≤ 0.8，ankle pressure ≤ 70 mm hg, or tcpo2 ≤ 70 mmhg in the foot * no response to medication (aspirin and cilostazol) * normal liver and renal function * on regular medication for hypertension if any exclusion criteria: * the above mentioned patients combined with infection or systemic septicemia. (ps, patients with poor control of diabetes, hypertension and hyperlipidemia will also be excluded * patient with immunocompromised or immunosuppressed * type i diabetes * patients having stroke or myocardial infarction within last 3 months * hb% \ 8%
study to investigate the analgesic efficacy of a single dose of azd1386

Conditions: Pain

Summary: the primary aim of this study is to investigate if azd1386 can relieve the pain induced by the surgical removal of one lower wisdom-tooth. this will be done by comparing the effect of azd1386 to placebo ("inactive substance") on pain. a number of patients will instead receive the common painkiller naproxen for comparison purposes. rescue medication, acetaminophen, will be allowed if a need for additional painkillers would arise. a number of patients will receive naproxen as control.


Eligibility criteria:
inclusion criteria: * patients scheduled for surgical removal of one partial or complete impacted mandibular third molar. * provision of signed informed consent. exclusion criteria: * history of somatic disease/condition, which may interfere with the objectives for the study, as judged by the investigator. * clinically significant illness or clinically relevant trauma within the 2 weeks prior to the administration of the investigational product, as judged by the investigator. * a family history of short qt syndrome (sqts) or sudden cardiac death (scd) amongst first degree relatives * patients with a body temperature \>37.5°c at visit 2, before start of surgical procedures

Keywords: analgesic effect
resistance training in patients with parkinson's disease.

Conditions: Parkinson Disease

Summary: this is a controlled trial to assess the effects of resistance training on bradykinesia and physical function in patients with parkinson's disease. forty patients diagnosed with parkinson disease stage 1 to 3 of the hoehn and yahr scale took part in the study and were allocated into 2 groups; training group performed a 9-week rt program twice a week while the control group attended lectures on the disease.


Eligibility criteria:
inclusion criteria: * medical neurologist confirmation of 1-3 hoehn and yahr stages, * age between 50 and 80 years old; * and physician attested to participate in the resistance training program. exclusion criteria: * diagnostic of any other neurological disease, cardiovascular disease, hematologic or orthopedic disorders; * and motor fluctuations or severe dyskinesia that could affect their ability to perform the experimental protocol.
insulin therapy and falls due to orthostatic hypotension

Conditions: Orthostatic Hypotension; Diabetes; Syncope

Summary: in the proposed study, the investigators examine in older adults with type 2 diabetes the impact of beginning insulin therapy on the orthostatic drop in blood pressure as well as the response of arterial blood pressure and doppler measures of cerebral blood flow during upright tilt. the investigators hypothesize that in older adults with type 2 diabetes, the cardiovascular effects of insulin would precipitate or worsen orthostatic intolerance not present at baseline.

before and 2 weeks after the start of standard insulin therapy several tests will be done: * orthostatic hypotension will be tested for with 3 orthostatic maneuvers * vasovagal syncope will be tested with 2 tilt table tests, one augmented with 400ug of nitroglycerin * mca velocity will be measured with a transcranial doppler * heart rate and blood pressure will be measured throughout the test with a finometer and power lab on a beat to beat basis

Eligibility criteria:
inclusion criteria: * all subjects must be 65 years of age or older * all must have been diagnosed with type 2 diabetes for at least 5 years * all subjects must be insulin-naïve on recruitment * all subjects must be eligible to start insulin therapy (long or intermediate acting) as determined by their diabetologist exclusion criteria: * anemia, as determined by serum hematocrit * abnormal liver function tests * elevated creatinine * smoker * musculoskeletal or neurological condition that would preclude tilt table testing or orthostatic vitals

Keywords: diabetes insulin orthostatic hypotension falls syncope
the effect of a retrofit particle trap on the vascular effects of diesel exhaust inhalation

Conditions: Heart Disease

Summary: the purpose of this study is to determine whether a retrofit particle trap can reduce the adverse vascular responses to diesel exhaust inhalation

18 subjects healthy male volunteers will be recruited at umeå university. in a randomised, double blind 3 way crossover trial, subjects will be exposed to filtered air, diesel exhaust (300mcg/m3) or filtered diesel exhaust for 1 hour during intermittent exercise. 2 hours following the exposure, thrombogenicity will be assessed using the badimon chamber - an ex-vivo model of thrombosis formed under constant flow conditions. forearm blood flow in response to infused intra-brachial vasodilators will be measured using venous occlusion plethysmography 6 hours after the exposure. arterial stiffness will be measured using peripheral arterial applanation tonometry in the hour post-exposure. blood samples will be collected at timepoints over the 24 hours after exposure.

Eligibility criteria:
inclusion criteria: * healthy male volunteers exclusion criteria: * intercurrent illness * smoking * significant occupational exposure to air pollution * regular medication usage

Keywords: air pollution diesel exhaust endothelial function vascular function particle trap thrombosis effects inhalation
study of avelle™ negative pressure wound therapy (npwt) system

Conditions: Surgical Wound, Recent; Surgical Wound Leak; Dehiscence Wound; Trauma-related Wound

Summary: the main questions the study aims to answer are: * how much do wounds improve when using the avelle™ negative pressure wound therapy system for a maximum of 14 days? * how safe is the avelle™ negative pressure wound therapy system?

the goal of this observational study is to gather information about the the avelle™ negative pressure wound therapy system in people that have a wound that leaks fluid and is 14 days old or less. the avelle™ negative pressure wound therapy (npwt) system combines a sterile dressing comprising gelling fibre technology to absorb wound exudate with negative pressure applied to the wound via a vacuum pump. the avelle™ npwt system consists of a disposable single patient use battery powered pump, absorbent wound dressing, and fixation strips. participants will: * be asked questions about their medical history and medications * asked to allow the wound and surrounding skin to be examined * be asked to use the avelle™ negative pressure wound therapy system for a maximum of 14 days * be asked to review any issues or concerns with the avelle™ negative pressure wound therapy system

Eligibility criteria:
inclusion criteria: 1. subject is ≥ 18 years of age. 2. subject is willing and able to take part in the study and provide written informed consent. 3. subject has one target wound which is ≤ 14 days old 4. subject has target wound that is intended to heal by primary intention 5. subject has a target wound which is ≤ 25% of the dressing area as per the instructions for use 6. target wound has low to moderate exudate 7. wound is suitable for treatment with avelle™ npwt 8. subject is deemed capable and willing to comply with the protocol and product instructions. exclusion criteria: 1. subject has an existing health condition that would compromise their participation and follow-up in this study such as the ability to understand and follow instructions 2. subject has been treated with another npwt system during the past 14 days 3. subject, in the opinion of the investigator, is not clinically suitable for inclusion 4. subject is contraindicated for the avelle™ npwt system
safety of rfxiii in patients following first time myocardial revascularization requiring cardiopulmonary bypass

Conditions: Acquired Bleeding Disorder; Cardiac Surgery Requiring Cardiopulmonary Bypass

Summary: this trial is conducted in europe and the united states of america (usa). the aim of this trial is to evaluate the safety of escalating single doses of rfxiii (recombinant factor xiii, catridecacog) administered following first time myocardial revascularization requiring cardiopulmonary bypass (cpb).


Eligibility criteria:
inclusion criteria: * subject is undergoing his/her first myocardial revascularization exclusion criteria: * previous participation (randomisation and dosing) in this trial * subject has a history of cerebrovascular event (including thrombotic or haemorrhagic stroke or transient ischaemic attack (tia)) and/or extra-myocardial thromboembolic events, e.g., deep vein thrombosis (dvt) or pulmonary embolus (pe) * subject required a pre-operative (within 30 days) transfusion of any blood and/or blood product * subject has a current atrial fibrillation or history of atrial fibrillation
is the normal looking bladder mucosa on wl cystoscopy during turbt really normal and can nbi detect hidden tumor

Conditions: Transition Cell Cancer

Summary: as every urologist does transurethral resection of bladder tumor. so there are instances in which the operating surgeon is not sure whether the normal-looking mucosa or the inflammatory changes are really benign or if we are missing the cis/bladder cancer.

this is basically the observational study. in which we want to clarify that the normal-looking mucosa on white light cystoscopy is normal in reality or we are missing cis/bladder tumor.

Eligibility criteria:
inclusion criteria: any patient with bladder tumor - exclusion criteria: * any patient whose age is less than 18 years any patient whose age is more than 75 years