Kornimate/medical-research-clean huggingface dataset:
prospective natural history study of retinitis pigmentosa

Conditions: Retinitis Pigmentosa

Summary: this is natural history study of rods and cones degenerations in patients with retinitis pigmentosa (rp) caused by pathogenic mutations in rho, pde6a or pde6b gene mutations.

this is an open, longitudinal, prospective, multicentric study to describe the disease progression in patients with retinitis pigmentosa due to mutation in genes with selective expression in rods: rhodopsin (rho), phosphodiesterase 6a (pde6a) or phosphodiesterase 6b (pde6b).rho,pde6a or pde6b mutation.

Eligibility criteria:
inclusion criteria: * rp with mutations affecting the rho, pde6a and pde6b genes * visual acuity ≥ 20/200 for at least one eye at inclusion visit * binocular visual field diameter ≥ 5° as measured on the goldmann iii-4e isopter at inclusion visit * patients having signed the informed consent form * sufficient knowledge of the local language to ensure understanding of the tasks to be performed and the instructions received * patient affiliated to a health security system if they are included in a clinical site based in france (per law) exclusion criteria: * patients with any other gene mutation known to be involved in rp * patients with other ocular disorder likely to impact the retinal function * pregnant or breastfeeding women

Keywords: rho pde6a pde6b pathogenic mutation prospective natural history retinal disease eye disease blindness inherited eye disease vision disorder inherited retinal disorder rod-cone dystrophy
microarray analysis for human genetic disease

Conditions: Breast Neoplasm; Hereditary Neoplastic Syndrome; Melanoma; Ovarian Neoplasm

Summary: this study will look at genetic changes which occur in the development of male and female breast cancer and other cancer. it will use a new technology called dna microarray hybridization that looks at a wide array of genes to identify disease-associated patterns in the human genome (complete set of human genes). numerous studies have linked particular genes to a given disease, but there is very little information on patterns of gene expression (production of proteins from genetic coding) in the entire human genome. pinpointing genetic abnormalities in disease may help classify different forms of cancer and perhaps lead to new avenues of treatment or prevention. a primary goal of this study will be to create a database of gene expression for human cancers and other disorders that will provide the basis for finding genetic abnormalities in disease. tumors specimens used in this study will be taken from tissues biopsied from patients with breast, colon cancer, sarcomas or melanoma as part of their routine care. patients in the study will be among those receiving care at the: department of oncology, university hospital, university of lund, sweden (breast cancer); department of medicine, university of michigan, ann arbor, michigan (breast cancer); surgery branch, national cancer institute, bethesda, maryland (melanoma), johns hopkins univ. (colon cancer), memorial sloan kettering (sarcoma). patients in the study will have a family history taken and will complete a questionnaire. some patients will be asked to have a blood test. breast cancer patients will have a mammogram if one has not been done within the last year.

the purpose of our study is to make use of a novel technology that the cancer genetics branch of the nhgri has been a leader in developing. this technology for genome-wide expression analysis, dna microarray hybridization, is the focus of our protocol. we will access tissue banks collected by our collaborators that contain excess tissues obtained during routine clinical care. specimens will be processed for large-scale gene expression analysis and dna copy number determination using dna microarrays. the development and analysis of this gene expression and gene copy number database are the primary purpose of this study. currently available and new bioinformatics tools will be applied to the data for the characterization of disease subsets (e.g., early vs. advanced stage cancer) as well as to mine the data for specific genes which are linked to given disease states.

Eligibility criteria:
* clinical inclusion/exclusion criteria will be dependent upon the collaborating institutions' requirements.

Keywords: melanoma breast cancer gene expression dna chip technology expressed sequence tags
population-based chronic kidney disease cohort at northern taiwan

Conditions: Chronic Kidney Disease, Population, Community, Multidisciplinary, Education

Summary: ckd is a global endemic disease with increased comorbidities and mortality. the prevalence and the incidence of the end-stage renal disease (esrd) are extremely high in taiwan. the prevalence of ckd remains high; however, the awareness remains low. screening of unique risk factor and early diagnosis of ckd can improve outcome. furthermore, data of renal education deep into the community remains limited. the aims of this study are: 1. explore risk factors associated with ckd in the community 2. establish multidisciplinary care model in the community 3. investigate mechanistic mediators for ckd and multidisciplinary education approached in behavioral , physiological, immune and metabolomics aspects 4. provide bio-specimen repository for future study


Eligibility criteria:
inclusion criteria: * residents of northern taiwan exclusion criteria: * pregnancy women, unwilling to participate
phase ii trial of neo-adjuvant pemetrexed plus cisplatin followed by surgery and radiation for pleural mesothelioma

Conditions: Pleural Neoplasms

Summary: this study aims to determine how successful the chemotherapy regimen of pemetrexed plus cisplatin before surgery is at killing all the tumor so that none is left at the time of surgery. following surgery, all eligible patients will receive radiation to the chest. how patients respond, whether the cancer returns and if so, where, will also be monitored.


Eligibility criteria:
inclusion criteria: * patients will be clinically staged using ajcc/uicc tnm staging criteria. eligible stages: 1. patients must be m0 2. patients with t1, t2, and t3 disease (without cardiac involvement) are eligible (t status can be established clinically and radiologically or at exploratory thoracotomy without surgical resection 3. patients with n0, n1,or n2 disease are eligible * performance status of 0 to 1 on the ecog performance status schedule. * no prior systemic chemotherapy and no prior intracavitary cytotoxic drugs or immunomodulators, unless given for the purpose of chemical pleurodesis * no previous radiation therapy * estimated life expectancy of at least 12 weeks exclusion criteria: patients will be excluded if they meet any of the following criteria: * have received treatment within the last 30 days with a drug that has not received regulatory approval for any indication at the time of study entry * have previously completed or withdrawn from this study or any other study investigating pemetrexed * pregnancy or breast-feeding * serious concomitant systemic disorders (i.e. active infection) that, in the opinion of the investigator, would compromise the safety of the patient or compromise the patient's ability to complete the study * second active primary malignancy (except in situ carcinoma of the cervix, adequately treated non-melanomatous carcinoma of the skin, low grade (gleason score less than or equal to 6), localized adenocarcinoma of the prostate or other malignancy treated at least 2 years previously with no evidence of recurrence
evaluation of lifestyle modification on cardiovascular risk

Conditions: Metabolic Syndrome; Menopause; Cardiovascular Diseases; Obesity; Type2diabetes

Summary: this study proposes to examine the independent and combined effects of an 8-week home-based, equipment-free hiit exercise intervention with/without mediterranean diet through ghrelin-mediated alteration in overweight and obese metabolic women to improve cardiovascular-risk related markers and metabolic risk factors.

this is a randomised-controlled study investigating the independent and combined effects of a home-based, equipment-free high intensity interval training (hiit) exercise intervention with/without the mediterranean diet (meddiet) through ghrelin-mediated alteration on body composition, cardiovascular risk-related markers, metabolic markers and obesity-related hormones in postmenopausal women. the intervention will last for 8-weeks, with three arms comprising of 1) exercise only (ex); 2) exercise and meddiet (ex+meddiet); 3) control (no intervention).

Eligibility criteria:
inclusion criteria: * female * participants \>45-65 years of age * body mass index (bmi) \>25.0 - 35.0 * postmenopausal (with spontaneous amenorrhea for the last 12 months) * healthy (no known diseases) * physically inactive (ipaq score - category i and not engaged in at least 60 min/week of structured exercise during the previous 6 months) * generally well enough to exercise. exclusion criteria: * any inclusion criteria not met * abnormal ecg * current smokers * current or history of substance abuse and/or excess alcohol intake * cardiovascular disease * cancer * gastrointestinal disease e.g. inflammatory bowel disease or irritable bowel syndrome * kidney disease * liver disease * pancreatitis * on hormone therapy for \<6 months * prescribed anti-hypertensive or beta-blocker medication

Keywords: ghrelin postmenopause
tfus induced transient scotoma for individual dosing

Conditions: Healthy

Summary: the purposes of this research study is to: 1. develop a technique of transcranial focused ultrasound stimulation (tfus) where meaningful effects on the brain can be easily measured. 2. use this technique to measure threshold for effective tfus in individuals. 3. determine whether disruption of conscious visual detection, versus non-conscious visually-guided behavior have different thresholds for disruption with tfus.

transcranial focused ultrasound (tfus) is a new noninvasive way to stimulate the brain in an awake and alert person. investigators do not yet have an easily observable way to know whether they are in the right brain location with the correct dose for that person. investigators wonder if they can produce a transient change in someone's visual field, called a scotoma, and whether they can use that to determine the minimum tfus dose for that person.

Eligibility criteria:
inclusion criteria: * male or female * age 18-70 * normal or corrected-to normal vision and hearing * no neurological or psychological illness exclusion criteria: * diagnosis of any depressive or anxiety disorder * diagnosis of schizophrenia or bipolar disorder * current use of any non-prescribed psychoactive medications or drugs * contraindication to enter the mri environment. * pregnancy (or suspected/possible pregnancy or plan to become pregnant in the short term). * urine pregnancy test: if the subject is a woman of childbearing potential and /or a man capable of fathering a child before, during, and/or after participation precaution should be taken. examples of acceptable methods of birth control for participants involved in the study include: birth control pills, patch, iud, condom, sponge, diaphragm with spermicide, or avoiding sexual activity that could cause the subject to become pregnant. * inability to adhere to treatment schedule. * initiation of new antidepressant treatment at the time of study randomization. note: there will be no exclusion based upon gender or minority status. we anticipate that at least 50% of the participants will be women. the percentage of minority participants is expected to be at least 5%. we will make vigorous attempts to increase this number by posting advertisement flyers in minority communities. children, prisoners, and institutionalized individuals will not be recruited, because they are beyond the scope of the objectives. moreover, we will emphasize that participation in this study is completely voluntary. recruitment of women and minorities has been addressed above. non-english speaking subjects will not be recruited because they may not be able to understand instructions, which could undermine the validity of the results.

Keywords: ulltrasound tfus scotoma visual field
clinical benefits in optimized remote hf patient management

Conditions: Congestive Heart Failure Treated

Summary: the study purpose is to demonstrate the superiority of optimized remote patient management compared to optimized standard care in the management and prognosis of heart failure, in the prevention of recurrent atrial tachycardia or atrial fibrillation episodes and in the reduction of inappropriate shock therapies. the remote care allows early intervention in terms of drug therapy adjustment and cardiac resynchronization therapy (crt-d) device reprogramming.

the outcome measure of the study is a combined endpoint of: * proportion of patients with hf hospitalization or emergency unit admission with intravenous diuretics, atrial tachycardia/atrial fibrillation (at/af) episodes or cardiovascular/cerebrovascular episodes requiring hospitalization at 12 months * proportion of patients with inappropriate implantable cardioverter-defibrillator (icd) therapies delivered at 12 months comparing optimized remote patient management to optimized standard patient management

Eligibility criteria:
inclusion criteria: * heart failure patients already implanted with crt-d devices (from 4 to 8 weeks), according to current guidelines1 * 1 hospitalization or access to emergency unit due to heart failure (including treatment with diuretic and/or cardioactive intravenous therapy) within the last 12 months * left bundle branch block (lbbb) * patients must be able to provide written informed consent * patients are mentally capable to participate in the investigation (based on physician's discretion) exclusion criteria: * patients already implanted with crt or crt-d device to be replaced * patients in long-standing persistent or permanent at/af * patients in dialysis treatment at the time of enrollment * patients in parenteral inotropic therapy at the time of enrollment * patients with epicardial left ventricular (lv) lead * patients with mechanical valvular prosthesis * patients with life expectancy \< 12 months * patients actively considered for cardiac transplant * patients \< 18 years old * pregnant women

Keywords: heart failure cardiac resynchronization therapy remote care disease management
translational therapy in patients with osteogenesis imperfecta - a pilot trial on treatment with the rankl-antibody denosumab

Conditions: Osteogenesis Imperfecta

Summary: pilot study to assess the efficacy of a therapy with the rankl-antibody denosumab in children 5-10 years of age with mutation in col1a1 or col1a2 leading to osteogenesis imperfecta. efficacy will be assessed by dxa measurements at the lumbar spine of the areal bone mineral density (bmd) which is the most frequently used parameter in trials investigating osteoporosis. the hypothesis of the study is: osteoclastic activity which is increased in oi could be reduced by inhibition of osteoclast maturation. denosumab inhibits maturation of the osteoclasts by inhibiting rankl. bmd could be increased during a 36 week treatment course with denosumab measured after 48 weeks.


Eligibility criteria:
inclusion criteria * male or female subjects between 5 years and 10 years of age with molecular proven osteogenesis imperfecta (col1a1/a2 mutation) * subjects must have been treated for a minimum of 2 years with bisphosphonates prior to study entry exclusion criteria: * hypocalcemia (\<1.03 mmol/l ionized calcium) * subjects with reduced renal function (estimated gfr (schwartz formula) \<30ml/min/1.73m2) * any other abnormal finding such as physical examination or laboratory evaluation, in the opinion of the investigator that is indicative of a disease that would compromise the safety of the patient when getting denosumab s.c.

Keywords: osteogenesis imperfecta col1a1/a2 denosumab bisphosphonates children areal bone mineral density
studying impact of religiosity and spirituality on depression and anxiety

Conditions: Depression; Anxiety

Summary: the aim of the study is to detect correlation between religiosity/spirituality and severity of depression and anxiety as well as finding impact on quality of life in patients, suffering from one of those disorders or both, who are attending the psychiatric clinic and ward of assiut university hospitals. given the centrality of religious activities in egyptian society and the arab population as a whole, finding such correlation may be beneficial in terms of analysing factors that may lead to depression and/or anxiety as well as factors that may reduce their severities.

religiosity and spirituality are fundamental aspects of the human experience, shaping beliefs, values, and how individuals navigate life's challenges. religiosity refers to the degree to which individuals identify with, and participate in the practices and beliefs of, a particular religion. it encompasses behaviors like prayer, attending religious services, and following religious teachings. spirituality, on the other hand, is a broader concept that reflects a sense of connection to something larger than oneself, a search for meaning and purpose in life. this connection can be expressed through religious beliefs, but it can also be independent of religion, encompassing a connection to nature, humanity, or a sense of purpose. research has increasingly explored the complex interplay between these constructs and mental health. the relationship between religiosity/spirituality and mental health is multifaceted. religious involvement can provide individuals with social support, a sense of belonging, and a framework for coping with stress. spiritual beliefs can offer comfort, hope, and a sense of purpose, potentially promoting resilience in the face of challenges. however, the relationship is not always straightforward. certain religious beliefs or practices could contribute to feelings of guilt, shame, or isolation, potentially impacting mental health. additionally, negative religious coping styles, such as feeling angry or abandoned by god, might exacerbate mental health problems. given the centrality of religion in the arab world, including egypt, a deeper look into the associations between religiosity/spirituality and psychiatric disorders such as depression and anxiety is warranted.

Eligibility criteria:
* inclusion criteria: 1. age above 18 years old. 2. diagnosed with depression and/or anxiety disorders according to the dsm-5 criteria. * exclusion criteria: 1. severe psychiatric disorders including schizophrenia, personality disorders and drug-use disorders. 2. patients with cognitive impairment. 3. severe comorbid medical condition or disabilities including metabolic diseases and neurological disabilities.

Keywords: depression anxiety religiosity spirituality egypt
comparative clinical trial: manual therapy with and without radial extracorporeal shockwave therapy to treat acute low back pain

Conditions: Acute Lower Back Pain

Summary: the goal of this clinical trial is to learn if the addition of radial pulse therapy to chiropractic care will help adult patients recover faster to an acute bout of low back pain. radial pulse therapy is the application of acoustic waves that passes through the skin to tissues and cells in the body. the main questions that the clinical trial aims to answer are: * does the addition of radial pulse therapy to chiropractic care result in better or earlier reduction in pain intensity? * does the addition of radial pulse therapy to chiropractic care result in better or earlier improvement in physical function? researchers will compare radial pulse therapy plus chiropractic care to chiropractic care alone to see if patients with acute low back pain recover faster with the addition of radial pulse therapy. participants will: * visit the clinic once a week for 5 weeks * receive chiropractic care with or without the addition of radial pulse therapy to the low back and hip regions of the body * report their pain intensity and perform a physical function test at each clinic visit


Eligibility criteria:
inclusion criteria: 1. biological sex of male or female 2. age range: 18 to 40 years old 3. diagnosis of acute mechanical low back pain (\< 3 months duration) 4. pain intensity \> 3 on the 11 point nprs with 0 "being no pain at all" to 10 "being worse pain possible" within the context of either "right now" or "at its worst during the past 7 days" exclusion criteria: 1. subjects who are currently using over-the-counter nonsteroidal anti-inflammatory drugs (nsaids), like ibuprofen (advil, motrin) and naproxen (aleve), or prescription nsaids to manage any medical condition. 2. subjects who used oral corticosteroids that are only available by prescription to manage any medical condition within the past 6 weeks. 3. subject who received a corticosteroid injection for any medical condition within the past 6 weeks. 4. subjects who are not willing to be randomly assigned to either of the treatment interventions. 5. subjects with open wounds to the lower and mid back that will prevent the application of radial eswt. 6. subjects with hypermobility and/or instability of the lower and mid back, which are contraindications for manual therapy. 7. subjects who have a case history of low back pain episodes, e.g., chronic or persistent occurrence of low back pain. 8. subjects who do not meet the differential diagnosis of acute mechanical low back pain, i.e., origin of their back pain is unknown or non-specific to a low back structure. -

Keywords: chiropractic care acute low back pain, mechanical
internal limiting membrane flaps for coexistent macular hole and retinal detachment

Conditions: Retinal Detachment

Summary: purpose: to evaluate the logical surgical approaches in closing macular holes in eyes of proliferative diabetic retinopathy with retinal detachment

high mh closure rate can be achieved. other than high myopia, mh with rd may appear in several conditions, such as severe vitreomacular traction, proliferative diabetic retinopathy (pdr).clinical charts were reviewed of patients of proliferative diabetic retinopathy suffering from mh with rd who were treated with vitrectomy combined with inverted epiretinal ilm flap,inverted ilm flaps insertion techniques, or free ilm flaps.standard 3-port 23 or 25 gauged pars plana vitrectomy was performed. after core vitrectomy, anterior-posterior oriented tractions as well as all fibrovascular tissues were removed as thoroughly as possible.the patients were kept in a facedown position overnight and were allowed to take any positions except supine for approximately one week.various surgical approaches utilizing in managing macular hole may effectively closing macular holes and reattach retina.

Eligibility criteria:
inclusion criteria: * patients were proliferative diabetic retinopathy suffering from mh with rd. exclusion criteria: * patients were not proliferative diabetic retinopathy suffering from mh with rd.

Keywords: macular hole retinal detachment pdr