Kornimate/medical-research-clean huggingface dataset:
a study of the natural course of surf1 deficiency

Conditions: Leigh Syndrome

Summary: the purpose of the study is to prospectively and systematically collect standardized clinical information, to describe important features of the disease course of surf1 deficiency. these include but are not limited to symptomatology, clinical course, and risk factors for severe disease and complications.

participant eligibility for the study will be determined during a screening period lasting up to 45 days. in-clinic follow visits will occur over several days every 6 months for 2 years from baseline. thereafter, annual telephone follow-up contact will be conducted for 2 additional years. thus, the active study duration for each participant will be up to approximately 2 years and the total duration per participant will be approximately 4 years. the study will be conducted in the united states and select sites outside the united states based on incidence data.

Eligibility criteria:
inclusion criteria: * informed consent/assent provided by the participant based on participant's cognitive ability as determined by principal investigator (pi), and/or participant's parent(s) or legally authorized representative(s). * participant is \< 18 years of age at time of initial informed consent. * displays one or more clinical features consistent with surf1 deficiency, including but not limited to, hypotonia, motor delays, motor regression, failure to thrive, language delays, and/or language regression. * genetic diagnosis of surf1 pathogenic or likely pathogenic mutation(s), either compound heterozygous or homozygous mutations. if variants are of uncertain significance (vus), verify documentation of cytochrome c oxidase (cox) activity deficiency. * ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records. exclusion criteria: * any known genetic abnormality (other than surf1 deficiency), including but not limited to a chromosomal aberration or molecularly known or clinically suspected progressive neurometabolic disorder or dementia, that confounds the clinical phenotype. * the presence of significant non-surf1-related central nervous system (cns) impairment/behavioral disturbances that would confound the scientific rigor or interpretation of results of the study or a known history of perinatal asphyxia, kernicterus, carbon monoxide or methanol intoxication. * current participation in a therapeutic study or participation in a therapeutic study within 30 days prior to enrollment in the present study. * prior or current treatment with gene or stem cell therapy. * any condition that, in the opinion of the site investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures.

Keywords: surf1-associated leigh syndrome biomarkers epidemiology study genotype-phenotype correlation data leigh syndrome primary mitochondrial disease surf1 deficiency natural history study neurodegenerative disease
e test strips applied to bronchoalveolar lavage for suspicion of hospital-acquired pneumonia to accelerate antibiogram analysis.

Conditions: Hospital-acquired Pneumonia

Summary: to rapidly adapt or deescalate the initially broad antibiotic treatment, an antibiogram analysis is required. e test strips have successfully provided an antibiogram 24 h after having been directly applied to bronchoalveolar lavage (bal). an open-label, prospective cohort study of consecutive patients with hospital-acquired pneumonia will be conducted with the aim of validating a new method increasing the rapidity of antibiogram analysis compared to standard methods of culture. this antibiogram will be provided by e test strips directly applied to bronchoalveolar lavage (bal) samples and analyzed from the 6th up to the 24th hour after its completion. the occurrence of major errors (s with e test method, i or r with standard method) and minor errors (i or r with e test method and s with standard method)will be observed and a comparison of h6, h10 and h24 results performed.


Eligibility criteria:
inclusion criteria: * all patients with suspected hap undergoing bal will be eligible exclusion criteria: * contraindications for bal (pao2/fio2 \<100, risk of bronchoscopy-related haemorrhagic complications), secondary exclusion of patients with negative cultures, defined by a threshold of bacteria \<104 cfu/ml.

Keywords: hospital-acquired pneumonia e test antibiogram bronchoalveolar lavage
effect of acupuncture and pain medication on radicular pain using qst

Conditions: Pain

Summary: in this aim, we propose to conduct a double blinded, placebo-controlled, and randomized clinical trial to compare the clinical effectiveness of radicular pain relief by either acupuncture therapy or a course of pain medication (e.g., gabapentin) using quantitative sensory testing (qst).


Eligibility criteria:
inclusion criteria: 1. subject will be between ages 18 to 75 years. both male and female subjects will be recruited. 2. subject should have had cervical or lumbar radicular pain for at least two months. this requirement is to avoid the uncertainty of an unstable pain condition and to minimize the study variation. 3. subject has a pain score of 4 or above (visual analog scale, vas: 0 - 10 from no pain to worst pain). 4. cervical or lumbar radicular pain will include, but is not limited to, such clinical conditions as disk herniation, spinal stenosis, and post-laminectomy syndrome. exclusion criteria: 1. subject has detectable sensory deficits at the site of qst. sensory deficits refer to such conditions resulting from neurological diseases or medical conditions causing peripheral polyneuropathy and sensory changes, which include but are not limited to diabetic neuropathy, alcoholic neuropathy, aids neuropathy, severe thyroid disease, and severe liver or kidney disorders. 2. subject has scar tissue, infection, or acute injury at the site of qst. 3. subject is pregnant. 4. subject tests positive for illicit drugs. 5. subject has a pacemaker. 6. subject is currently taking gabapentin.

Keywords: pain pain management
rituximab, eltrombopag and dexamethasone as frontline treatment for immune thrombocytopenia

Conditions: Immune Thrombocytopenia

Summary: the purpose of this study is to determine the response rate and response duration with the combination of low-dose rituximab, eltrombopag and high-dose dexamethasone.

immune thrombocytopenia is an autoimmune disorder characterized by formation of autoantibodies against platelet antigens leading platelet destruction. corticosteroids increase the platelet count in about 80 percent of patients. however, many patients have a relapse when the dose of corticosteroid is reduced. debilitating side effects are common in patients who require long-term corticosteroid therapy to maintain the platelet count. eltrombopag, it is a small molecule agonist of the c-mpl (tpor) receptor, which is the physiological target of the hormone thrombopoietin, has been shown to be effectively raise the platelet count in adult patients (aged 18 years and over) who have had their spleen removed or where splenectomy is not an option and have received prior treatment with corticosteroids or immunoglobulins, and these medicines did not work (refractory itp). there are a few case reports where eltrombopag was an option as first line treatment for it. the purpose of this study is to determine the response rate and response duration with the combination of rituximab (100 mg weekly four weeks), eltrombopag (50mg po once a day, day 1-28) and high-dose dexamethasone (40mg po days 1-4) in untreated adult patients with \<30\*109/l platelet count diagnosed with immune thrombocytopenia. a complete response is defined as an increase in platelet counts to \>150×109/l on two consecutive occasions. a clinical response is defined as an increase in the platelet count between \>30×109/l on two consecutive measures and no bleeding. duration of response is considered from the day of the initial administration to the first time of relapse (platelet count \<30×109/l) or to time of analysis patients will be evaluated each week during 4 weeks and then every month for at least 6 months.

Eligibility criteria:
inclusion criteria: * clinically confirmed immune thrombocytopenic (it) platelet count less than 30,000/mm3 on two ocasionts with bleeding. * subject ≥ 16 years * subject has signed and dated written informed consent. * no sepsis or fever or active infection * not pregnant or nursing exclusion criteria: * previous treatment (only corticosteroids at dose or prednisone equivalent of 300 mg) * performance status above or equal to 2. * pregnancy and lactation * previous splenectomy * connective tissue disease * autoimmune hemolytic anemia * relapse
reimagine - real world evaluation of mepolizumab in severe asthma achieving on treatment clinical remission, a prospective study

Conditions: Asthma

Summary: this is a prospective, real-world, single arm, global, multi-centre study to evaluate the effect of timely treatment with mepolizumab (nucala) to achieve clinical remission in adult participants with severe asthma with an eosinophilic phenotype (sa-ep).


Eligibility criteria:
inclusion criteria: * participant has a confirmed asthma diagnosis and has been prescribed nucala by their physician for the treatment of asthma, as per local label. nucala can be initiated up to 7 days prior to study enrollment. * no nucala use in the 6 months prior to enrollment. * participants with greater than or equal to (≥)60 percentage (%) predicted forced expiratory volume in 1 second (fev1) and less than or equal to (≤)4 exacerbations per year, as confirmed by the physician. * other local prescription criteria of nucala not described above at nucala initiation (e.g., local reimbursement criteria). * written informed consent exclusion criteria: * investigator concerns about participant's willingness to adhere to biologic treatment for any reason (e.g., cost, behavior, difficulty with access to healthcare) * participants currently on maintenance ocs or intramuscular corticosteroids. * participants using omalizumab, reslizumab, dupilumab, tezepelumab, or benralizumab within the 6 months prior to enrollment * participants participating in an interventional study with a treatment intervention

Keywords: severe asthma eosinophilic phenotype oral corticosteroids (ocs) asthma exacerbations clinical remission nucala mepolizumab
clinical evaluation of a myopia control lens in slowing myopia progression (csl)

Conditions: Myopia

Summary: this is a mono-centre, prospective, one-arm, unmask clinical trial to evaluate the effectiveness of test lens in slowing myopia progression with respect to axial length elongation compared to a single vision spectacle lens from the historical control group of another clinical trial nct05331378. a total of 40 children will be recruited.

as myopia is a growing worldwide problem, it is important to better understand the range of possible treatments to slow the progression of myopia. spectacle lenses with aspherical lenslets were shown to be effective in reducing myopia progression and axial length elongation in children in the previous clinical trial (bao et al. 2022). a dose-dependent effect was demonstrated, with higher lenslet asphericity having greater myopia control efficacy. this open clinical trial will test the safety and effectiveness of a test lens designed to modify the area and amount of myopic defocus on the retina without compromising vision. the study population includes children in singapore aged 8 to 13 years (40 subjects) at the time of commencing treatment. axial length and spherical equivalent refraction will be the primary measure for myopia progression. visual acuities will also be compared between test lenses and control lenses of the historical control group to determine the quality of vision using test lenses

Eligibility criteria:
inclusion criteria: * volunteer subject and guardian, fluent english spoken, willing to follow protocol and able to read, comprehend and sign the informed consent \& assent form. * 8 to 13 years old at time of informed consent and assent. * spherical equivalent refractive error (ser) by manifest refraction between -0.75 and -4.75 d in each eye. * astigmatism, if present, of not more than 1.50 d. * difference in ser between the two eyes (anisometropia) by manifest refraction not more than 1.00 d. * best corrected visual acuity in each eye equal to or better than +0.10 logmar (≥ 20/25 as snellen) * be in good general health based on his/her and parent's/guardian's knowledge. absence of ocular disease with full ophthalmic examination. without any ocular or systemic condition known to affect refractive status. * absence of strabismus by cover test at near or distance wearing correction. * absence of amblyopia * without ocular or systemic medications which, in the investigator's opinion, may significantly affect pupil size, accommodation or refractive state. exclusion criteria: * vulnerability of subject * history of myopia control intervention * participation in any clinical study within 30 days of the baseline visit.

Keywords: refractive error eye disease
study to learn more about the physical activity level of patients suffering from hemophilia a treated with damoctocog alfa pegol (life active study)

Conditions: Hemophilia A

Summary: in this study researcher want to learn more about the change of physical activity of hemophilia a patients treated with damoctocog alfa pegol. patients enrolled in this study will be wearing a small device measuring daily active time. researcher will compare these physical activity data with patient's clinical data including bleeding events to gain information on how bleeding levels are related to the activity level of the patients. the study aims to enroll about 80 patients who are at the same time also participating in the hem-powr study (nct03932201) evaluating the effectiveness and safety of damoctocog alfa pegol.

the primary objective is to evaluate the change in physical non-sedentary activity as measured by the actigraph centrepoint insight watch (actigraph llc, pensacola, florida) after 1, 2 and 3 years of treatment with damoctocog alfa pegol. secondary objectives are to determine the * change in intensity of physical activity, * association between physical activities and clinical outcomes / patient-reported outcome scores/ number of bleeds, * percentage of patients achieving who-recommended levels of activity * actual wear time.

Eligibility criteria:
inclusion criteria: * enrolled in the hem-powr study (nct03932201) * naïve to damoctocog alfa pegol prior to enrollment to hem-powr study * prescribed for prophylaxis treatment for hemophilia with damoctocog alfa pegol * patient is willing to wear the provided device * signed informed consent/assent to participate in life-active: observational study evaluating the physical activity in a subset of damoctocog alfa pegol treated hemophilia a patients who are enrolled in the hem-powr study exclusion criteria: * hypersensitivity to any material of activity monitor (e.g. steel, rubber) * time gap between enrollment to hem-powr study and enrollment to life-active study is greater than 6 months

Keywords: physical activity coagulation factor viii joint health
low-dose glucagon and advanced hybrid closed-loop system for prevention of exercise-induced hypoglycaemia in people with type 1 diabetes

Conditions: Type 1 Diabetes; Hypoglycemia

Summary: the primary aim of the study is to evaluate the glucose response to low-dose glucagon (single 150 µg dose) administered immediately before aerobic exercise in individuals with ahcl-treated t1d.

the study consists of a screening visit (visit a) and two additional study visits (visit b and visit c) completed in a sequential order. during study visit b participants will receive s.c. administration of 150 ug glucagon prior to a 45-min moderate intensity continuous exercise session and subsequently continue into a 1-hour post-exercise observation period. during study visit c the exact same procedures will be followed with the omission of glucagon.

Eligibility criteria:
inclusion criteria: * age ≥ 18 years * type 1 diabetes ≥ 2 years * use of ahcl system minimed 780g ≥ 4 weeks * use of novorapid for ≥ 1 week exclusion criteria: * allergies to lactose or glucagon * known or suspected allergies to glucagon or related products * history of hypersensitivity or allergic reaction to glucagon or lactose * patients with diagnosed pheochromocytoma, insulinoma or gastroparesis * concomitant medical or psychological conditions identified through review of medical history, physical examination and clinical laboratory analysis that, according to the investigator's assessment, makes the individual unsuitable for study participation * lack of compliance with key study procedures at the discretion of the investigator * females of childbearing potential who are pregnant, breast-feeding or intend to become pregnant or are not using adequate contraceptive methods (methods are considered adequate for study enrolment for females: an intrauterine device, hormonal contraception (birth control pills, implant, patch, vaginal ring or injection), a single partner who is sterile or infertile, or sexual abstinence. contraception is required throughout the study duration. sterilized or postmenopausal women (\>12 months since last period) are not required to use contraception) * inability to understand the individual information and to give informed consent

Keywords: type 1 diabetes hypoglycemia exercise glucagon hybrid closed-loop system
low intensity physical activity leads to improvement in brachial-ankle pulse wave velocity of hemiplegics

Conditions: Hemiplegia; Motor Activity; Physical Activity

Summary: low intensity physical activity by half squat of the elderly people with hemiplegia significantly slow down the pulse wave velocity of the arteries of the lower limbs of the paralyzed side within 8 weeks.

measurement of aortic pulse wave velocity (pwv) is a noninvasive method for assessing arterial stiffening in atherosclerosis. in hemiplegics, disuse of the affected limb is associated with the muscle wasting leading to development of local atherosclerosis. the brachial-ankle aortic pwv (bapwv) is an indicator of early stage disuse syndrome, and is measured with a device that is particularly useful in elderly hemiplegics. the lipa regime was designed to result in an increase of 3.3% (about 40 kcal/day) of daily energy consumption compared to their individual baseline values. this included aerobic exercises and half squats (70° knee flexion) for altogether about 20 minutes, once daily. in addition, the subjects performed passive ankle dorsiflexion-plantar flexion, 30 times/minute for 10 min, once daily. the lipa was aimed at affecting the passive range of motion in ankle, knee, and hip, and weight bearing on the affected leg in standing position.

Eligibility criteria:
inclusion criteria: * age above 65 years * male * hemiplegic * onset of stroke within 5 years * some of them required walking aid indoors * all of them required a walking aid outdoors exclusion criteria: * severe functional limitations that precluded any increase in pa * presence of associated cardiovascular conditions such as uncontrolled hypertension or angina * presence of undiagnosed or untreated health conditions that manifested as abnormal findings in laboratory test and contraindicated exercise tests

Keywords: pulse wave velocity low intensity physical activity hemiplegia
treatment of unstable 31.a2 and 31.a3 trochanteric fractures. randomised comparison of the proximal femoral nail pfn-a short and the pfn-a long.

Conditions: Unstable Proximal Femoral Fracture

Summary: 1. introduction: controversy exists with regard to whether to treat ao/ota (orthopaedic trauma association) 32.a2 - 32-a3 fractures of the proximal part of the femur with an intramedullary short pfn-a or long pfn-a. a prospective, randomized, controlled trial is performed to compare the outcome treatment of these unstable fractures of the proximal part of the femur with either a short pfn-a (170-240mm) or long pfn-a (300-420mm). 2. objectives and hypothesis the hypothesis is that the short pfn-a would have fewer complications than long pfn-a main objective: is defined as total number of complications between pfn-a short and pfn-a long. outcome measures were subdivided into preoperative, perioperative and post-operative. follow up data at four weeks, three months and one year. secondary objectives: complete and uneventful radiological and clinical healing of the fracture. revision operations (related to the failure of primary treatment) and mortality. baseline characteristics were documented pre-operatively: outcome measures were subdivided into intra-operative, post-operative and follow up data at four weeks, three months and one year. 3. methodology: one hundred and eighty eight patients presenting with an ao/ota 31-a2 and 31-a3 fracture of the proximal part of the femur will be randomized, at the time of the admission, to fixation with use either a short pfn-a or a long pfn-a.


Eligibility criteria:
inclusion criteria: * patients 60 years old above. * patients with trochanteric fracture 31.a2 and 31.a3 ao classification for long bones * patients that accept to participate on the study under consent exclusion criteria: * metaphyseal fractures with extension more than 3 cm in reference to lesser trochanter calibrated and analyzed with preoplan registered application. * combination of fractures in the proximal femur. * pathological fractures. * diaphyseal femoral fractures. * rejection of surgery by the patient. * contraindications to the use of either implants studied. * patients who do not wish to participate in this study

Keywords: hip fracture unstable (31a2 and 31a3) proximal femoral nail