Kornimate/medical-research-clean huggingface dataset:
the interplay between inborn error of immunity and blood disorders: unravelling immune defects behind common haematological diseases

Conditions: Hematologic Diseases

Summary: the universe of inborn errors of immunity (iei) is rapidly expanding: their clinical spectrum is not only characterised by infections but often includes haematological complications. moreover, an increasing number of "iei phenocopies" due to somatic mutations in specific cell types are progressively being unveiled and complicate the genetic plot of iei, which are therefore not only caused by germline mutations. however, these aspects have never been studied by large prospective studies. this study aims to fill this gap by prospectively recruiting patients \<25 y/o with haematologic disorders that fall into one of the following 4 subgroups: autoimmune cytopenia (aics), polyclonal lymphoproliferation (pl), monoclonal (malignant) lymphoproliferation (ml), bone marrow failure/myelodysplasia (bmf/mds). recruited subjects will undergo an extensive immunologic workup (extended immunophenotyping, cytokine and autoantibody dosage) together with genetic testing (ngs) to detect both germline and somatic variants. bulk rna sequencing will be performed either as functional validation of variants or to identify altered pathways in selected cases with inconclusive genetics. patient advocacy organisations (paos) will be pivotal to assist patients' needs throughout the project and to raise awareness of predictive and yet unknown signs of iei. the study involves recruitment a total of almost 700 children over a 3-year period. considering recent studies on aics and bmf/mds, a global detection rate of 30% "hidden" iei is expected, with higher rates in the aic subgroup and lower ones for ml, given the complexity of lymphoma pathogenesis. new iei candidate genes or new examples of iei phenocopies are expected to be identified. the immunological workup should detect early disease biomarkers or currently unknown molecular signatures of specific disorders. these may increase the chance of identifying an iei in a specific subgroup and promptly address the patient to a targeted treatment or to hematopoietic stem cell transplantation, avoiding late complications, increasing patients' survival, and abating the economic burden of the disease on healthcare services. finally, involvement of paos may foster patients' knowledge about their condition, increasing their compliance to disease follow-up and treatment and ameliorating their quality of life.


Eligibility criteria:
inclusion criteria: 1. patients age \< 25 years 2. patients with diagnosed autoimmune cytopenias (aic), polyclonal lymphoproliferation (pl), lymphoma (ml), bone marrow failure, and myelodysplastic syndrome (bmf/mds) (see details below) 3. signed informed consent exclusion criteria: 1. patients with lymphoma secondary to hiv or transplant 2. patient with self-resolving or post-infective aics
kidney information network for disease research and education

Conditions: ESRD; Fabry Disease; Rare Diseases; Kidney Diseases; End Stage Renal Disease; Genetic Diseases, X-Linked

Summary: in this study, investigators will conduct a prospective cohort study of dialysis patients by collecting research-quality information on patient characteristics, comorbid diseases and laboratory markers used in routine practice, as well as novel biochemical markers and genetic data. investigators will utilize data from the cohort to test the independent relationship between biochemical and genetic markers and fabry disease and other rare diseases.

kindred is a prospective observational cohort study that will enroll up to 5,000 dialysis patients throughout the united states with and without known diagnosis of fabry disease but at risk for fabry disease (e.g., unknown cause of renal disease, young male, initiating dialysis without a kidney biopsy, etc).this tissue repository will allow for genetic screening of a geographically diverse population, assist in identification of rare diseases in esrd, and collect research-quality information on risk factors and outcomes from an ethnically heterogeneous population of dialysis patients. in this study, investigators will use a novel method of performing research in this population by leveraging the internet to enhance and accelerate recruitment of potential subjects to participate in a genetic screening/tissue repository protocol.

Eligibility criteria:
inclusion criteria: * adults between 18 and 65 with esrd undergoing dialysis. exclusion criteria: * kidney biopsy unlikely to be fabry disease; those with a diagnosis that is clinically or biochemically proven not to be fabry disease.

Keywords: hemodialysis kidney dialysis kindred fabry massachusetts general hospital
assessing the colgate assist handle toothbrush in individuals with impairment of hand movement.

Conditions: Movement Disorders and Physical Impairments

Summary: user experiences of colgate assist handle toothbrush as indicated by questionnaire and interview

video recording of tooth brushing technique picture of toothbrush bristles after study period

Eligibility criteria:
inclusion criteria: * individuals with specific movement disorders and physical impairments, such as, but not limited to, parkinson disease, huntington disease, multiple sclerosis, arthritis, cerebral palsy, stroke, and/or tremors that affect their ability to perform daily tasks, such as brushing their teeth. exclusion criteria: * individuals with severe oral health issues such as oral cancer, ulcers, or severe periodontal disease. * individuals who are unable to open their mouth enough that it would prevent using a brushing device.

Keywords: hand movement impairment
noninvasive cardiac output monitoring in pulmonary hypertension

Conditions: Pulmonary Hypertension

Summary: comparison of ultrasonic cardiac output monitor (uscom) system with fick and thermodilution methods during right heart catheterization in patients with pulmonary hypertension.


Eligibility criteria:
inclusion criteria: * age \> 18 years * diagnosis of group 1 or group 4 pah based on papm \> 25 mmhg, pawp \ 3 wu and consistent clinical history. note: for logistical reasons, patients at high suspicion for group 1 or group 4 pah will sign informed consent to have the uscom system applied during right heart catheterization before the procedure; if it is found that the patient does not meet the definition of group 1 or group 4 pah during right heart catheterization, he/she will be excluded. * willingness and ability to comply with study procedures. * no known hypersensitivity to the components of uscom electrodes exclusion criteria: * unwillingness to sign informed consent or inability or unwillingness to comply with study procedures * evidence of postcapillary pulmonary hypertension on right heart catheterization
evaluation of treatment effect of low fodmap diet in treatment of ibs patients

Conditions: Irritable Bowel Syndrome

Summary: irritable bowel syndrome (ibs) is a common functional gastrointestinal disorder, affecting 15% of the population. ibs is characterized by recurrent abdominal pain/discomfort without identifiable organic lesions. the pathophysiology of ibs can be multi factors which included immune activation/inflammatory reactions, visceral hypersensitivity, gastrointestinal dysmotility, changes in gut microflora, brain-gut dysfunction and food intolerance. many short-chain carbohydrates can induce abdominal symptoms, and these carbohydrates were called, fermentable, oligosaccharides, disaccharides and monosaccharides and polyols (fodmaps). around 50- 86% of the ibs patients will have a clinically meaningful response to the low-fodmap diet. to evaluate the efficacy of low fodmap diet. experimental design: health control and patients meeting the rome iii criteria for ibs will be enrolled in this study. the basic profiles, patient characteristics, intestinal microbiota profiles and mri images will be obtained before and after low fodmap diet intervention.


Eligibility criteria:
inclusion criteria: patients are eligible for the study if all of the following criteria are met: 1. patients with irritable bowel syndrome as per rome iv diagnostic criteria symptom characteristics of ibs according to rome iii and iv criteria 2. patients must provide witnessed written informed consent prior to any study procedures being performed 3. patients aged between 20-65 years 4. male or female patients exclusion criteria: * exclusion criteria including: 1. unable to provide or understand written informed consent. 2. pregnancy. 3. receiving antibiotics or narcotics within 90 days prior to enrollment. 4. receiving new prebiotics, probiotics within 90 days prior to enrollment. 5. current infection. 6. history of inflammatory bowel disease. 7. thyroid disease. 8. major psychiatric disorders, including clinical anxiety or depression and previous use of anxiolytics and antidepressants. 9. previous stroke, intracerebral hemorrhage, or central nervous system diseases. 10. malignancy.

Keywords: low fodmap diet
prospective rct on post prostatectomy urine leak

Conditions: Prostate Cancer; Urinary Incontinence

Summary: objectives: primary: comparison of proportion of patient achieving continence between the four arms at 6 months. secondary: * comparison of time to achieve continence between the four arms. * comparison of urinary symptoms and quality of life improvement between the four arms. * assessment of adverse events in duloxetine arms. primary outcome/ time frame: proportion of patient achieving continence at 6 months. continence is defined as "using no pad"or "only security pad". secondary outcome: * time to achieve continence * quality of life tested in relation to incontinence according to visual analog scale (vas) and king's health questionnaire (kqh). * urinary symptoms measured with international prostate symptom score (ipss). no. of subjects entered: 300 patients informed and included, 240 patients will be randomized. statistical methods * proportion of patients who achieve continence and time to achieve continence will be compared between the four arms. * comparison of quality of life outcomes between the four arms * comparison of clinical variables that can affect the primary/secondary outcome - univariate and multivariate analysis (itt).


Eligibility criteria:
inclusion criteria: 1. all consecutive patients undergoing robotic assisted radical prostatectomy for clinically organ confined prostate cancer exclusion criteria: 1. prior urethral, bladder or prostate surgery 2. pelvic radiotherapy. 3. overactive bladder 4. known neurological disease associated to luts 5. hepatic impairment with hepatic insufficiency. 6. severe renal impairment (creatinine clearance \< 30ml/min) 7. hypersensitivity to duloxetine 8. uncontrolled hypertension 9. narrow angle glaucoma post-operative criteria: 10. post-void residual urine volume \> 100ml measured 15 days after the rarp
assessment of prevalence of stress urinary incontinence during pregnancy

Conditions: Stress Urinary Incontinence

Summary: stress urinary incontinence is the most common type of incontinence during pregnancy.our study aims at determining the prevalence in the first and third trimesters and the associated risk factors.

the required sample size has been calculated using ibm© sample power© version 3 .the primary outcome measure is the prevalence of stress urinary incontinence (sui) in the 1st and 3rd trimesters. accordingly, it is estimated that a sample of 240 patients in either study group would have a power of 80% (beta error, 0.2) to detect a statistically significant difference of 9% between the two groups as regards the incidence of sui. the incidence of sui is assumed to equal 10% in the 1st trimester. the prevalence of sui in the 3rd trimester is assumed to equal 10% under the null hypothesis and to equal 19% under the alternative hypothesis. this calculation used a two-sided z test with a confidence level of 95% (alpha error, 0.05). data will be collected, tabulated, then analyzed using ibm© spss© statistics version 22. normally distributed numerical data will be presented as mean and sd, and skewed data as median and inter-quartile range. qualitative data will be presented as number and percentage.comparison of normally distributed numerical data will be done using the unpaired student t test. skewed data will be compared using the mann-whitney u test. categorical data will be compared using the chi-squared test, or fisher's exact test when appropriate. a two-sided p-value \<0.05 will be considered statistically significant .

Eligibility criteria:
inclusion criteria: * pregnant women in first and third trimesters exclusion criteria: * communication problems. * mental disturbances. * previous surgery for incontinence or other pelvic procedures.

Keywords: stress urinary incontinence sui
green propolis extract and royal jelly in hypertensive patients and/or with chronic kidney disease

Conditions: Chronic Kidney Diseases; Hypertension; Cardiovascular Diseases

Summary: this work aims to evaluate the effects of the association of green propolis extract with royal jelly on inflammation and oxidative stress in participants with chronic kidney diseases (ckd) and systemic arterial hypertension (sah), in a longitudinal, randomized, double-blind, placebo-controlled clinical trial that will be carried out for 2 months.

propolis and royal jelly are bee products. propolis is a resinous mixture produced by bees with their saliva and the addition of wax, from exudates collected from buds and plant sap. royal jelly is a substance produced in the hypopharyngeal glands of young worker bees. both products are rich in bioactive compounds such as polyphenols. the combination of propolis extract and royal jelly, substances constituted by the combination of several chemical components with potential biological activity, may emerge as a promising adjuvant therapeutic alternative for patients with ckd and sah.

Eligibility criteria:
inclusion criteria: * patients in stages 3 and 5 of ckd (gfr from 15 to 59 ml/min), * patients receiving ambulatorial nutrition treatment at least 6 months * patients on regular hemodialysis treatment for at least 6 months * patients using one to three antihypertensive drugs exclusion criteria: * autoimmune and infectious diseases, * diabetes * cancer * aids * pregnant women * patients using catabolic drugs or antibiotics; * patients with catheter access to hemodialysis; * patients using antioxidant vitamin supplements, prebiotics, probiotics, symbiotic, * patients on regular intake of propolis who are allergic to corn starch or report being allergic to bee stings. * patients with acute myocardial infarction (ami) and/or cerebrovascular accident (cva)

Keywords: chronic kidney disease hypertension cardiovascular disease inflammation oxidative stress green propolis royal jelly nrf2 nuclear factor kappa-b
study of tolerance to oral peanut

Conditions: Peanut Allergy

Summary: open pilot study of peanut oral immunotherapy in 22 children with peanut allergy

background peanut allergy is severe and rarely resolves. objective to test the efficacy and safety of a new oral immunotherapy protocol for peanut allergy. method 22 peanut-allergic children will undergo oral challenge. oral immunotherapy will be administered by gradual updosing with 2-weekly increments (8-38w) to 800mg protein (5 peanuts/day) followed by 30-weeks maintenance. oral challenge will be repeated after 6 and 30 weeks maintenance.

Eligibility criteria:
inclusion criteria: * peanut allergy defined by oral challenge exclusion criteria: * major immunodeficiency

Keywords: peanut food allergy anaphylaxis immunotherapy
gut hormone response after paleolithic-type meals

Conditions: Insulin Resistance; Satiety

Summary: the effects of two palaeolithic-type meals will be assessed with respect to a panel of gut hormones, satiety, blood glucose and insulin levels as compared to a meal constructed along the lines of the world health organisation dietary recommendations

in the current study the effects of two palaeolithic-type meals will be assessed with respect to a panel of gut hormones (including incretins), satiety, blood glucose and insulin levels.

Eligibility criteria:
inclusion criteria: * body mass index (bmi) 18-27 inclusive * apparently healthy: no medical conditions which might affect study measurements as judged by leatherhead physician based on a health questionnaire) * having general practitioner * reported dietary habits: no medically prescribed diet, no slimming diet, used to eat 3 meals a day, no vegetarian * reported intense sporting activities less than 10h/w * reported alcohol consumption less than 21units/w * non-smoking * a fasting capillary blood glucose value within the local normal reference value: 4-6.5 mmol/l measured by finger prick exclusion criteria: * use of medication which interferes with the study measurements (as judged by the study physician) * being an employee of unilever or leatherhead food research * scoff questionaire score ≥ 2 * eating habit questionnaire ≥ 14 * smoking * dislike, allergy or intolerance t the test meals or the ad libitum meal * reported participation in another nutritional or biomedical trial 3 months before pre-study examination or during the study * reported participation in night shift work two weeks prior to the pre-study investigation during the study. night work is defined as working between midnight and 06.00 am

Keywords: glucagon-like peptide-1 glucose-dependent insulinotropic peptide peptide yy glucagon satiety meal palaeolithic
evaluation of contact lens saline solutions with scleral gp contact lens wearers experiencing fogging

Conditions: Contact Lens Complication; Debris in Post Lens Tear Reservoir

Summary: evaluation of saline solutions used with scleral rigid gas permeable contact lens wearers experiencing debris in the post lens tear reservoir

one-month, approximately 36 subjects enrolled (\~12/site), randomized, double-masked crossover trial. existing scleral rigid gas permeable (rgp) contact lens wearing subjects are randomly assigned (block) to different arms of the trial and receive different saline solutions for use sequentially for 2-week periods. the subjects will continue to wear their existing scleral gp lenses if lens fit is acceptable following an initial evaluation. subjects will agree to complete a survey administered daily (via email) that will address contact lens wear time and subjective symptoms.

Eligibility criteria:
inclusion criteria:• * daily wear large diameter (scleral) rigid gas permeable contact lens wearers in design with acceptable fit * 18 years old or above. * agree to and sign informed consent. * correctable to at least 20/40 distance visual acuity in each eye. * presence of debris or "fogging" in post lens tear film reservoir (pltr). exclusion criteria: * extended wear contact lens wearers * require concurrent ocular medication. * grade 2 or more slit lamp findings (does not include fogging assessment). * eye injury or surgery within twelve weeks immediately prior to enrolment for this trial. * currently enrolled in an ophthalmic clinical trial. * pregnant or lactating * evidence of active ophthalmic disease or abnormality including glaucoma, chorioretinitis, central retinal artery or vein occlusion, intraocular or ocular infection.

Keywords: fogging insertion solutions rgp scleral contact lenses
a study of alxn1830 in healthy adult participants

Conditions: Healthy

Summary: this trial will study the effects of single and multiple doses of alxn1830 in healthy adult participants.

this is a phase 1 study in healthy adult participants. the study will consist of 2 single ascending dose (cohorts 1 and 2) and 4 multiple ascending dose cohorts (cohorts 3 to 6). participants will be randomly assigned to each of the 6 cohorts to receive either single or multiple doses of alxn1830 subcutaneous (sc) or single or multiple doses of placebo sc. cohort 6 will enroll only healthy participants of japanese descent who will be dosed according to the highest tolerated dose (htd) established in the non-japanese cohorts.

Eligibility criteria:
inclusion criteria: * satisfactory medical assessment. * participants must have had vaccination against pneumococcus (pneumovax 23 \[ppsv23\]) at least 28 days, and maximally 4 years prior to day 1. * participants must have had seasonal influenza vaccination for the current season at least 28 days prior to day 1. * body weight within 60 to 90 kilograms (kg), inclusive, and body mass index within 18 to 30 kg/meter squared, inclusive. * must be willing to follow protocol-specified contraception guidance during the study and for 3 months after last dose of study drug. exclusion criteria: * current/recurrent diseases or relevant medical history. * known exposure to investigational or marketed therapeutic proteins, such as monoclonal antibodies, fusion proteins, bispecific molecules, or antibody drug conjugates, within 60 days or 5 half-lives (whichever is longer) prior to dosing. * participants who have prior exposure to alxn1830. * current enrollment or past participation within the last 90 days before signing of consent in this or any other interventional clinical study. * participants with hepatitis b or c, or human immunodeficiency virus. * participants who are either immunocompromised or have one of the following underlying medical conditions: anatomic or functional asplenia (including sickle cell disease); primary antibody deficiencies.

Keywords: alxn1830 autoimmune disease pharmacokinetics pharmacodynamics