Kornimate/medical-research-clean huggingface dataset:
phosphoproteomic profile of children with down syndrome

Conditions: Down Syndrome

Summary: one of the major causes of cognitive disorders limiting the learning abilities of children with down's syndrome is excess activity of the dyrk1a protein kinase, whose gene is located on chromosome 21. consequently, variations in the level of phosphorylation, and hence activity, of dyrk1a target proteins involved in synaptic transmission, could identify mechanisms underlying these cognitive disorders. several studies have shown that plasma proteins can reflect a pathophysiological brain state. the investigators plan to carry out a phosphoproteomic study to determine the phosphorylation profile of plasma proteins in children with down's syndrome, and identify potential dyrk1a-dependent pathophysiological mechanisms and biomarkers involved in the natural course of cognition in children with down's syndrome.

during a consultation in their usual care department, dedicated to the care of children with trisomy 21, the children with trisomy 21 and their parents present will be informed about the study. an additional 2 ml of blood (from a blood sample taken as part of the consultation) will be drawn for the study by experienced nurses as part of their usual care. plasma from this remaining volume will be fixed and analyzed to determine a phosphoproteomic profile. multidimensional liquid chromatography with ultra-high resolution mass spectrometry will be used to analyze the native proteome and to obtain expression and phosphorylation levels of plasma proteins. similar procedure will be performed on remaining blood samples of boys without genetic abnormality having blood analysis. phosphoproteomic profiles of children with down syndrome and children without genetic abnormality will be compared to identify specific biomarkers of down syndrome.

Eligibility criteria:
inclusion criteria: * clinical diagnosis of free and homogeneous trisomy 21, * body mass index (bmi): 15-25, * able to understand the study based on the pictorial information leaflet and give agreement/assent to participate, * parent present on the day of the visit to validate their child's consent/assent, if applicable. exclusion criteria: * celiac disease, * autoimmune dysthyroidism, * type i autoimmune diabetes, * alopecia, * other autoimmune diseases, * current infectious pathology, * history of infantile spasms, * autism spectrum disorders, * epilepsy, * central nervous system infections, * leukemia not in remission, * anti-inflammatory treatments (nsaids, local or systemic corticosteroids).
all ultrasound predicts the success of acl repair?

Conditions: Anterior Cruciate Ligament Rupture; Surgery

Summary: this case series evaluates whether patients with an anterior cruciate ligament (acl) repair have better outcome if the anterolateral ligament (all) was repaired or not considering the ultrasound (us) pre-surgical recommendation.

in this case series, the surgeon will decide which patient will have acl only or acl and all surgery on the basis on multiple parameters. all patient will undergo detailed pre-clinical evaluation, including an ultrasonographic evaluation of the integrity of the all. two subgroups will be compared for the primary outcome (international knee documentation committee score at 8 months of follow-up). in subgroup 1, the surgeon will follow the ultrasonographic evaluation of the all considering the all repair (i.e. : all intact on the ultrasound, acl repair only; all broken on ultrasound; acl and all repair). in subgroup 2, the surgeon will not follow the ultrasonographic evaluation of the all considering the all repair. secondary outcomes of interest will be evaluated with multivariate regression analysis. sample size calculation: the chosen parameter of interest for the primary outcome evaluation is a continuous response variable (ikdc score) from two independent subgroups (ultrasonographic evaluation of the all followed or not for the surgical repair), considering a ratio of 1:3 between the two subgroups. in a previous study (ajsm sonnery-cottet 2017) the response within each subject group was normally distributed with standard deviation 13.1. if the true difference between the group means is the published minimal clinically important difference of 9 (ajsm nwachukwu 2017), we will need to study 30 experimental subjects and 90 control subjects to be able to reject the null hypothesis that the population means of the experimental and control groups are equal with probability (power) 0.9. the type i error probability associated with this test of this null hypothesis is 0.05.

Eligibility criteria:
inclusion criteria: * patients with an acl rupture and pre-surgical ultrasound evaluation exclusion criteria: * sedentary patient without sports activities * prior acl rupture of the same knee * posterior cruciate ligament rupture

Keywords: anterior cruciate ligament rupture anterolateral ligament ultrasonography
faecal microbiota transplantation to ameliorate nintedanib-induced diarrhea in patients with idiopathic pulmonary fibrosis

Conditions: Idiopathic Pulmonary Fibrosis

Summary: this is a multicentric, randomised, double-blind, placebo-controlled study that will consist of two consecutive phases: 1. first phase: faecal samples will be collected in patients diagnosed with idiopathic pulmonary fibrosis treated with nintedanib. 2. second phase: double-blind, randomised, clinical trial of autologous faecal microbiota transplantation (fmt) vs placebo in idiopathic pulmonary fibrosis patients who will experience nintedanib-induced diarrhea within 8 weeks of baseline visit. follow-up visits will be scheduled at 1, 4 and 12 weeks after randomization. the main aim of the study is to assess the efficacy of fmt in ameliorating diarrhea experienced by patients with idiopathic pulmonary fibrosis treated with nintedanib.


Eligibility criteria:
inclusion criteria: phase 1 (faecal samples collection) * patients aged ≥18 years when signing the informed consent; * diagnosis of ipf within 4 weeks based on 2018 ats/ers/jrs/alat guidelines (2) as confirmed by the investigator based on chest hrct scan and if available surgical lung biopsy; * patients already on antifibrotic therapy with nintedanib according to clinical practice. phase 2 (fmt procedure) - patients who develop diarrhea of grade 2 or 3 according to the common terminology criteria (ctc) for adverse events (ae) version 5.0 (12) within 8 weeks of baseline visit. exclusion criteria: * women of childbearing potential or pregnant; * history of colorectal surgery or cutaneous stoma; * food allergies; * recent (\<6 weeks) therapy with drugs that could possibly alter gut microbiota (e.g. antibiotics, probiotics, proton pump inhibitors, immunosuppressants and/or metformin); * any documented active or suspected malignancy, except appropriately treated basal cell carcinoma of the skin, "under surveillance" prostate cancer or in situ carcinoma of uterine cervix; * decompensated heart failure or heart disease with ejection fraction lower than 30%, severe respiratory failure, psychiatric disorders, pregnancy or inability to provide informed consent. * fecal sample unable for fmt according to the opinion of the investigators (e.g. positive for pathogens); * (phase 2 only) diarrhea from known causes (e.g. infectious gastroenteritis, clostridium difficile infection, coeliac disease, inflammatory bowel disease, irritable bowel syndrome, chronic pancreatitis and/or biliary salt diarrhea).
disorders of systemic glucose balance

Conditions: Hypoglycemia

Summary: we wish to identify people with hypoglycemia (low blood sugar) and ultimately determine why the blood sugar levels are so low. to do so, we will contrast the responses of patients suspected to have hypoglycemia with those of healthy subjects during standardized tests. those tests may include: 1) a controlled hypoglycemia produced by administration of insulin, a blood sugar-lowering hormone, and sugar, 2) a formula meal, and 3) a period of up to 72 hours without food.


Eligibility criteria:
inclusion criteria: * patients with suspected hypoglycemia * healthy subjects (controls) * absence of known macrovascular disease or of known cns disease by medical history, physical examination or ecg (exclusions for induced hypoglycemia) * ability to give informed consent
a study to assess the long-term safety of ustekinumab versus other biologics in patients with crohn's disease and ulcerative colitis

Conditions: Crohn Disease; Colitis, Ulcerative

Summary: the purpose of this study is to estimate and compare the incidence of overall malignancy, serious infection, and opportunistic infections between new users of ustekinumab and new users of other biologic therapies among adult participants with crohn's disease (cd) or ulcerative colitis (uc).


Eligibility criteria:
inclusion criteria: * adult men and women with cd or uc who are new users of ustekinumab or the comparator drugs during the study period * participants must have at least 1 year of enrollment history with the dod ehr database immediately prior to new use (that is, exposure index date) of ustekinumab or the comparator drugs exclusion criteria: * participants below 18 years of age on the exposure index date * participants who do not meet the definition for cd or uc prior to or on the exposure index date * participants with any records of human immunodeficiency virus (hiv) diagnosis, organ or tissue transplant, or malignancy (excluding non-melanoma skin cancer \[nmsc\]) at any time prior to or on the exposure index date * participants with a physician diagnosis of rheumatoid arthritis, ankylosing spondylitis, or psoriatic arthritis within 12 months prior to or on the exposure index date * in the analysis of infection outcomes, participants diagnosed with the same infection of interest both within 60 days prior to or on the exposure index date and within 60 days after the exposure index date will be excluded
evaluate the working environments of individuals working from home during covid-19 outbreak

Conditions: Musculoskeletal Pain

Summary: the study aims to evaluate the working environments of individuals working from home during the covid-19 outbreak and the effect of the working environments on their musculoskeletal system.

the study will include people between the ages of 18-65 who work from home (works in the office before isolation) as a part of the covid-19 isolation measure. the working environment of the individuals participating in the study will be evaluated with the rapid office strain assessment (rosa). musculoskeletal symptoms will be analyzed by using the standardised nordic questionnaires (nmq). pain will be analyzed by using the visual analogue scale (vas) .

Eligibility criteria:
inclusion criteria: * between the ages of 18-65 * works from home * works in the office before isolation exclusion criteria: * have any systemic disease that may affect on musculoskeletal system such as fibromyalgia, myofacial pain syndrome, etc. * have any vision problem * have difficulty of understanding and following online survey * have any physical disability * have self-reported computer use for less than four hours on a typical workday
healthy lifestyles and quality of life in women with breast cancer

Conditions: Breast Cancer

Summary: a cross-sectional, multicenter, and observational study designed to update clinical, pathological, and lifestyle information for a cohort of approximately 1245 breast cancer patients included in the epigeicam-01 study.

in 2007, geicam started the epigeicam case-control study, to investigate the association of diet and other lifestyle factors with breast cancer risk. in this study, we were able to identify two dietary patterns related with breast cancer in an opposite way. thus, while women with high adherence to the so-called "western" diet had an excess risk of breast cancer, high adherence to the "mediterranean" pattern reduced the risk of breast cancer, being this effect particularly marked for triple negative tumors. regarding physical activity, our preliminary results show a positive association between sedentarism and breast cancer risk. this project will focus on breast cancer patients included in that study in order to explore their degree of adherence to lifestyle behaviour recommendations and their association with the quality of life of these women. survivors will be re-surveyed to assess tobacco, alcohol, diet, obesity and health-related quality of life, using a specific questionnaire witch contains the following information: * sociodemographic information. * anthropometric data (weight, height). * clinical and gynecological data. * assessment of lifestyle habits: including tobacco consumption and diet. * physical activity questionnaire, with the international physical activity questionnaire (ipaq). * questionnaire to know the preference of patients on receiving information about their treatment in physical exercise. * general short form-36 (sf36) quality of life questionnaire already used at the time of diagnosis. * specific fatigue and quality of life questionnaires: functional assessment of cancer therapy - breast cancer (fact-b) and functional assessment of cancer therapy - fatigue (fact-f). * coping questionnaires: cope-28 and brief resilience scale (brs).

Eligibility criteria:
inclusion criteria: * women who participated in the case cohort in the epigeicam-01 clinical epidemiological study * capable and willing women to provide their written informed consent. if the patient has died, the biological sample and clinical data may be analyzed in those cases in which there is no express opposition from the patient or her relatives for participation in this type of study. the document of previous instructions will be consulted and, failing that, the criteria of the closest relative of the deceased will be recorded. * capable and willing women to complete the questionnaires provided in the study (except deceased). exclusion criteria: none

Keywords: lifestyle quality of life breast cancer
retrospective study of the results of cooled radiofrequency for genicular nerves neurotomy in 40 consecutive patients with osteoarthritis of the knee and painful knee arthroplasty

Conditions: Osteoarthritis, Knee

Summary: analyze the results of cooled radiofrequency in patients with chronic knee pain after one year of follow- up.

the investigators performed a retrospective case-series reviewed of 40 patients who underwent cooled rf of genicular nerves. the investigators evaluated results of the survey of quality of life (sf36), knee society score (kss) and the visual analogue scale (vas).

Eligibility criteria:
inclusion criteria: * chronic knee pain (older than 3 months, with no response to physiotherapy, medication or hyaluronic acid infiltration) with a pain intensity according to vas\>7/10 * the radiological criteria were witness of oa with kellgren-lawrence index of 2 to 4. * painful tka with no apparent cause and with a radiological image where a proper placement was observed exclusion criteria: * infection or lymphangitis of the member * acute knee pain * corticoids or hyaluronic acid infiltration with a high molecular weight prior to the surgery * pregnancy * severe neurological or psychiatric disorders * patients with pacemakers

Keywords: cooled radiofrequency chronic knee pain knee arthroplasty genicular nerve
prevalence of periodontitis in sample of egyptian population

Conditions: Periodontitis

Summary: prevalence of periodontitis on a sample of adult egyptian population: a cross-sectional study

the aim of this study is to assess the prevalence, severity, and extent of periodontitis through full-mouth examination of cal, and its association withsociodemographic, behavioral and environmental risk factors, in anegyptian sample will be recruited from diagnostic center at faculty of dentistry, cairo university, egypt.

Eligibility criteria:
inclusion criteria: * - all adult patients attending at the diagnostic center at the faculty of dentistry above 18 years old. exclusion criteria: 1. patients undergone periodontal therapy in the last 6 months. 2. patients with psychomotor dysfunction. 3. patients less than 18 years old. 4. edentulous patients
machine learning for estimating cardiorespiratory fitness in patients with obesity

Conditions: Obesity; Overweight

Summary: the primary aim of this study is to develop an obesity-specific machine learning (ml) model capable of accurately estimating vo2max, a key indicator of cardiovascular fitness.


Eligibility criteria:
inclusion criteria: * diagnosed with severe obesity * body mass index (bmi) ≥40.0 kg •m-2, or 35.0-39.9 kg •m-2 with at least one obesity-related comorbidity exclusion criteria: * not obese

Keywords: obesity; overweight; cardiorespiratory fitness; vo2max; machine learning; ml, web-application;
a study of mdx-010 (bms-734016) administered with or without prophylactic oral budesonide

Conditions: Malignant Melanoma

Summary: the purpose of the study is to determine efficacy, safety and tolerability of mdx-010 (bms-734016) administered with or without prophylactic oral budesonide.


Eligibility criteria:
inclusion criteria: * histologic or cytologic diagnosis of unresectable stage iii or iv malignant melanoma (excluding ocular melanoma) * flexible sigmoidoscopy and colonic biopsy required exclusion criteria: * patients with active, untreated central nervous system metastasis. patients with autoimmune disease.

Keywords: unresectable stage iii or iv malignant melanoma
burn micronutrient repletion pilot study

Conditions: Burn

Summary: burn injury patients undergo a series of metabolic changes that, if untreated, could lead to reduced health outcomes. nutrition is thought to play a vital role in post-burn recovery. the research team developed a novel vitamin and mineral supplementation protocol based on current scientific literature. the study will test the hypothesis that the novel vitamin and mineral supplement regimen will improve adult patient recovery from burn injury.

burn injury patients undergo a series of metabolic events that, if untreated, could lead to severe physical impairment and even death. antioxidants minimize free radical damage by neutralizing the chemical reaction as well as promoting cellular repair. currently there is no consistent protocol for micronutrient repletion in adult burn patients. the aim of this study is to evaluate the effectiveness of the current vitamin regimen in comparison to the novel vitamin and mineral supplementation protocol developed by the research team. dosages for oral and intravenous supplementation are based on current literature. the combination of intravenous and enteral treatment is important due to gastrointestinal mucosal swelling related to post-burn fluid resuscitation. measurable health outcomes will include rate of infection, length of hospital stay, mortality rate, hospital cost, number of days in intensive care unit, number of ventilator-dependent days and wound healing. the investigators hypothesize that use of the novel vitamin and mineral supplement regimen will improve adult burn patient outcomes.

Eligibility criteria:
inclusion criteria: * patients who present at the burn unit with tbsa \> 1% exclusion criteria: * less than 19 years old * chronic renal failure * chronic liver failure * pregnancy or lactation * patients who require parenteral nutrition

Keywords: post-burn recovery oxidative stress micronutrient protocol
polyphenols and risk of dementia

Conditions: Diet, Polyphenols, Flavonoids, Stilbenes, Aged, Dementia, Alzheimer's Disease, Epidemiology

Summary: this project aims to leverage existing data from a large observational prospective study on dementia, the three-city study, to investigate the relationship between intakes of polyphenols and the risk to develop dementia in the 12 years following dietary assessment.

the study sample includes 1,329 subjects followed for up to 12 years fro dementia after dietary assessment. the aim is to identify a pattern of polyphenol intake (based on 26 flavonoid and non-flavonoid polyphenol subclasses ascertained using a 24-hour dietary recall) associated with the risk of dementia and ad over 12 years in the 3c bordeaux cohort.

Eligibility criteria:
inclusion criteria: * 65 years or more, live in bordeaux area (france) exclusion criteria: * with dementia at the time of dietary assessment in year 2001-2002
comparison of inhaled mannitol and rhdnase in children with cystic fibrosis

Conditions: Cystic Fibrosis

Summary: the purpose of this study is to determine the medium term efficacy and safety profile of inhaled mannitol, on its own and also as an additional therapy to rhdnase (pulmozyme). in particular, we will assess the impact on: lung function; airway inflammation; sputum microbiology; exacerbations; quality of life; adverse events; exercise tolerance; total costs of hospital and community care; and cost-effectiveness.


Eligibility criteria:
inclusion criteria: * known diagnosis of cystic fibrosis (sweat test or genotype) * of either gender * aged between 8 and 18 years * have a baseline fev1 of \<70% of the predicted normal value * currently taking rhdnase for at least 4 weeks exclusion criteria: * currently active asthma, uncontrolled hypertension, colonised with burkholderia cepacia or mrsa * listed for transplantation * known intolerance to mannitol, rhdnase or bronchodilators

Keywords: cystic fibrosis
effectiveness of low-intensity laser on pain in patients with supraspinatus tendinopathy

Conditions: Tendinopathy; Pain

Summary: tendinopathy is an inflammatory process that occurs in and around the tendon when both are affected by a certain injury. in the case of the supraspinatus muscle it is one of the most frequent causes of shoulder pain. to test the efficacy of laser treatment in reducing shoulder pain caused by supraspinatus muscle tendinopathy. a randomized controlled clinical trial was carried out in which a physiotherapy intervention was performed using therapeutic laser for four weeks, to observe the influence on the pain generated by supraspinatus muscle tendinopathy in the shoulder. a sample of 82 patients was recruited and randomly divided into two groups: experimental group and control group. laser therapy was applied to the first group and to the second group it was applied as a placebo


Eligibility criteria:
inclusion criteria: * age 30-65 years. * present a 3 or higher on the visual analogue scale in the shoulder. * adequate cognitive capacity for comprehension. * tendinopathy of the rotator cuff confirmed by ultrasound at the study center, either by inflammation of the tendon, presence of hypoechoic zones, calcification, fibrillar disorganization and/or neovascularization in the supraspinatus muscle. * pain in the proximal side of the arm that is aggravated by abduction. exclusion criteria: * laser-specific contraindications (e.g., tumors, presence of pacemaker or defibrillator, pregnancy, etc.). * history of glenohumeral fracture and rheumatoid arthritis. * rheumatic, neurological or structural polymyalgia affecting the joint. * previous surgeries. * pregnant or breastfeeding women. * taking anticoagulants or antiaggregants. * diabetes mellitus. * cardiac dysfunctions. * infiltrative and/or rehabilitative treatment in the two months prior to recruitment. * pre-existing diseases associated with pain in the upper extremities. * difficulties of follow-up. * depression. * treatment with another intervention, during the development of the study will not be able to perform.

Keywords: shoulder laser placebo tendinopathy
bottle pep in cystic fibrosis

Conditions: Cystic Fibrosis

Summary: the study aims to investigate the sustainability of bottle-pep in patients with cystic fibrosis


Eligibility criteria:
inclusion criteria: * diagnosis of cystic fibrosis * acute exacerbation exclusion criteria: * any contraindication using the bottle - pep such as the presence of pneumothorax