Kornimate/medical-research-clean huggingface dataset:
diagnosis and phenotype characterisation using genomics in patients with inherited bone marrow failure (ibmdx study)

Conditions: Inherited BMF Syndrome; Inherited Platelet Disorder; Hematologic Diseases

Summary: this project seeks to perform whole genome sequence (wgs) and whole transcriptome sequence (wts) analysis on 350 patients with suspected inherited bone marrow failure syndromes and related disorder (ibmfs-rd) in order to increase the genomic diagnostic rate in ibmfs.

ibmfs-rd are a heterogeneous group of rare diseases resulting in significant morbidity and early mortality. these syndromes are individually and collectively rare (affecting \<1 per 10,000 people) and a significant proportion are unexplained by mutations in known genes. whilst rare, these familial conditions are also likely underdiagnosed due to their relatively recent description and also due to lack of accessible genomic testing. for patients with clinically suspected ibmfs-rd, receiving a genomic diagnosis is critical to: * establish a precise and reliable diagnosis (including distinguishing a monogenic aetiology from more common acquired or autoimmune causes of bone marrow failure which have dramatically different treatments (e.g. immunosuppression) * inform prognosis, clinical course, optimal treatment choice and screening for non-haematological organ dysfunction * optimise allogeneic haematopoietic stem cell transplant (hsct) chemotherapy conditioning and minimise regimen-related toxicity * inform risk-benefit analysis of performing allogeneic hsct to potentially prioritise other therapies (including novel gene therapy strategies) * avoiding the catastrophe of hsct donation from occult genetically affected relatives * provide counselling (including stem cell donor counselling) and offer genetic testing for potentially affected family members * provide accurate reproductive counselling and reproductive options to affected individuals this study aims to provide wgs and wts to a national cohort of patients with ibmfs-rd to determine diagnostic rate, health economic impact, health implementation challenges and other exploratory endpoints.

Eligibility criteria:
inclusion criteria: 1. age ≥ 3 months 2. able to give informed consent (or parent/guardian able to give informed consent) 3. a clinicopathological diagnosis (or differential diagnosis) of inherited bone marrow failure syndrome or related disorder (ibmfs-rd) as per the study team exclusion criteria: 1. a clinicopathological diagnosis of an acquired bone marrow failure syndrome (including acquired aplastic anaemia and hypoplastic myelodysplastic syndrome) as per the study team 2. existing definitive genomic diagnosis for patient's haematological phenotype

Keywords: bone marrow failure syndrome whole genome sequencing hematological diseases pancytopenia
evaluation of mangoselect® in improvement of exercise/activity-induced knee joint discomfort in subjects suffering from osteoarthritis grade i or ii

Conditions: Osteoarthritis, Knee

Summary: the aim of the present investigation is to evaluate the efficacy of mangoselect®, a mangosteen extract, and of a formulation containing mangoselect®, in subjects suffering from activity/exercise-induced knee joint pain/discomfort, during a 12-week supplementation period. subjective discomfort improvement will be assessed with both womac questionnaire and pain visual analogic scale (vas); functional joints features, quality of life, and inflammatory markers, will also be assessed. finally, long lasting benefits will additionally be evaluated 4 weeks after the end of the supplementation period. the design of the study is double-blind, randomized, multi-arm, parallel and placebo controlled.


Eligibility criteria:
inclusion criteria: * physically active volunteers * bmi 22-29.9 kg/m2 * declaring knee joint pain during and/or after activity/exercise * joint knee pain rated of at least 4 cm on a 10 cm vas following activity/exercise * diagnosed osteoarthritis grade i or ii according to kellgren-lawrence classification exclusion criteria: * diagnosed inflammatory joint disorder or osteoarthritis grade iii or more according to kellgren-lawrence classification * currentlu chronically taking pain killer drugs or dietary supplement or intra-articular treatment 3 months before selection * anemia * subjects with knee/joint surgery/replacement in the past 10 years * significant injury of the studied knee joint 12 months before selection * unable to carry out functional tests and/or questionnaires * currently participating or having participated in another clinical trial in the 3 previous months * pregnant women and women positive at beta-hcg serology test * any condition that the investigator believes would interfere with the ability to provide inform consent, or comply with study instructions, or confound the interpretations of the study results, or put the volunteer at undue risk * allergy to one of the component of the supplements
does green tea affect postprandial glucose, insulin and satiety in healthy subjects

Conditions: Diabetes Type 2; Obesity

Summary: green tea consumption could lower the risk of type ii diabetes, as suggested by epidemiological studies. there is also evidence from intervention studies that green tea can decrease blood glucose levels and contribute to weight loss. the aim with this study is therefore to examine the postprandial effects of green tea on glycemic index, insulin levels and satiety in healthy individuals after the consumption of a meal.

the study was conducted on 14 healthy volunteers, with a crossover design. participants were randomized to either green tea or water. this was consumed together with a breakfast consisting of white bread. blood samples were drawn at 0, 15, 30, 45, 60, 90 and 120 minutes. participants completed two different satiety scores at the same time intervals.

Eligibility criteria:
inclusion criteria: * healthy subjects exclusion criteria: * diabetes
importance of peritoneal free fluid cultures in acute appendicitis

Conditions: Appendicitis

Summary: the purpose of this study is to evaluate the frequency of positive free fluid cultures in both perforated and non-perforated appendicitis. in addition predictors of positive free fluid cultures will be analyzed.

prior to surgery, all patients will receive antibioprophylaxis. in case of free peritoneal fluid, a sample is aspirated and sent for microbiology. a lavage with saline is not necessary. the decision to start postoperative antibiotic is left at the discretion of the surgeon. the decision to leave an abdominal drain is left at the discretion of the surgeon. the use of a preoperative single dose administration of antibiotics has been extensively studied and found beneficial in the prevention of ssi in appendicitis. however, the use of continued postoperative antibiotics has barely been studied. the sparse evidence that exist does not seem to support its systematic use. during appendectomy the surgeon frequently encounters turbid free fluid, even in non-perforated appendicitis. it is common practice in belgium to continue antibiotic prophylaxis for 5 days after aspiration and lavage. although the aspect often seems purulent, it is unknown in what percentage this fluid is contaminated. also, it is unknown whether after aspiration and lavage intra-abdominal drains are necessary.

Eligibility criteria:
inclusion criteria: * appendicitis (perforated/ non-perforated) free fluid age: 6 - 90y exclusion criteria: * immunosuppression (recent chemotherapy, chronic use of immunosuppressive medication) age \ 90y

Keywords: appendicitis free fluid
phase 2 study of hl-009 liposomal gel to treat mild to moderate atopic dermatitis

Conditions: Mild to Moderate Atopic Dermatitis

Summary: the objective of this phase 2 study is to evaluate the safety and efficacy of hl-009 liposomal gel in adult patients with mild to moderate atopic dermatitis (ad).

this is a randomized, double-blind, placebo-controlled, parallel-group comparison study in subjects with mild to moderate ad. following a 2-week screening period, subjects will be randomly assigned into one of four treatment arms. placebo or hl-009 study treatments will be administrated to subjects twice daily for 8 consecutive weeks. after the randomization at week 0 (visit 2), subjects will visit their respective trial sites at weeks 0.5, 1, 2, 4, 6, 8, and 10 (visits 3, 4, 5, 6, 7, 8, and 9). all study drugs will be in identical laminated tubes to preserve double-blinding of the study.

Eligibility criteria:
inclusion criteria: * males or females aged 18 or older * clinical diagnosis of ad by a board certified/eligible dermatologist * subjects who have body surface area affected to at least 2% total body surface area (bsa) * subjects with iga score 2 or 3 corresponding to mild to moderate ad at screening and baseline visits * subjects who can give written informed consent exclusion criteria: * subjects who had topical treatment with corticosteroids within 2 weeks before screening * subjects who had systemic treatment with corticosteroids or ciclosporin and photopheresis treatment within 2 weeks before screening * subjects who had ultraviolet irradiation within 2 weeks before screening * subjects who participated in another drug trial within 4 weeks before screening * subjects who have an allergy to one of the excipients * female subjects who have a positive serum pregnancy test at screening, plan a pregnancy during study period, or are breast feeding * female subjects who don't meet one of the following criteria: be surgically sterile,post-menopausal for at least 12 months, or if sexually active, they should use oral contraceptives, double barrier contraception, intrauterine device, or other methods approved by the sponsor * subjects who have other topical treatment of the ad area * subjects who take any systemic anti-infective or antibiotic treatment * subjects who had eczema herpeticum * subjects who have any clinically significant presence of skin disease or pigmentation other than atopic dermatitis, or wide scar on atopic dermatitis area * subjects who have poorly-controlled chronic disease * subjects who have significant medical problems, including but not limited to uncontrolled hypertension and congestive heart failure * subjects who have clinically significant laboratory abnormalities at screening * subjects who have a marked prolongation of qt/qtc interval at screening * subjects who have a history of additional risk factors for tdp * subjects who use a medication that prolongs the qt/qtc interval * subjects who, in the opinion of the investigator, would be non-compliant with the visit schedule of study procedures
a pilot study to assess the feasibility of a novel non-invasive technology to measure changing blood glucose levels in adults with type-1 diabetes mellitus

Conditions: Type 1 Diabetes Mellitus; Type 1 Diabetes Mellitus with Hypoglycemia; Type 1 Diabetes Mellitus with Hyperglycemia

Summary: the primary aim of this study is to assess the feasibility of the lab demo 1.0 and associated computational models to detect and track glucose changes noninvasively and transcutaneously in defined and dynamic states of glycemia.


Eligibility criteria:
inclusion criteria: * 1.1nformed consent signed by the subject * 1.2 male and female subjects 18 - 60 years of age (inclusive) * 1.3 skin colour type i, ii, or iii according to fitzpatrick scale (see appendix 1) * 1.4 type 1 diabetes diagnosed \> 12 months ago * 1.5 intensified insulin therapy scheme using multiple daily injection (mdi) or continuous subcutaneous insulin infusion (csii) for more than 6 months * 1.6 bmi between 18.5 and 28.0 kg/m2 * 1.7 using a cgm/fgm system (freestyle libre2, freestyle libre3, dexcom g6 or dexcom g7) * 1.8 willingness to follow the study procedure exclusion criteria: * 2.1 in female subjects: pregnancy or breastfeeding period (self-reported) * 2.2 hba1c of \> 9.0% (based on last measurement by treating physician but not older than 120 days) note: to be repeated at the study site if measurement is older than 120 days or not available * 2.3 history of cardiovascular diseases * 2.4 irregular 12-lead ecg upon investigator's judgement * 2.5 medical history of epilepsy or other neurological disease associated with seizure events * 2.6 atypical skin condition (e.g., hyperkeratosis, hyperpigmentation) or presence of tattoos or scars in the measurement area (wrist) that could impair validity of measurement upon investigator's judgement * 2.7 known sensitivity to medical grade adhesives or other skin-related complications, which might influence the outcome * 2.8 not able to understand, write or read german * 2.9 participation in another investigation with an investigational drug within the 30 days preceding and during the present investigation * 2.10 enrolment of the pi, his/her family members, employees and other dependent persons

Keywords: hypoglycemia hyperglycemia diabetes transcutaneous spectral fingerprint noninvasive
20-week repeat oral dose study of akb-6548 in participants with chronic kidney disease and anemia

Conditions: Anemia; Chronic Kidney Disease

Summary: the purpose of this study is to evaluate the hemoglobin response (efficacy), safety, and tolerability of orally administered akb-6548 in participants with chronic kidney disease (pre-dialysis) with anemia with dosing for 20 weeks.


Eligibility criteria:
key inclusion criteria: * 18 to 82 years of age, inclusive * chronic kidney disease with a gfr category of g3a-g5 and not yet on dialysis * egfr ≥ 10 and ≤ 65 ml/minute/1.73 m2 * anemia secondary to ckd with an esa status and a screening hgb as per protocol * iron replete with ferritin and tsat levels as defined per protocol key exclusion criteria: * bmi \> 44.0 kg/m2 * red blood cell transfusion within 11 weeks prior to the screening visit * androgen therapy within the previous 21 days prior to the screening visit * intravenous iron within the past 4 weeks prior to the screening visit * ast or alt \>1.8x uln, alkaline phosphatase \>2x uln, or total bilirubin \>1.5x uln * screening ecg with qtc \> 500 msec * uncontrolled hypertension * class iii or iv congestive heart failure * myocardial infarction, acute coronary syndrome, or stroke within 6 months prior to the screening visit

Keywords: anemia chronic kidney disease ckd chronic renal insufficiency renal impairment erythropoietin kidney oral anemia treatment hemoglobin hypoxia-inducible factor hif hypoxia-inducible factor prolyl-hydroxylase inhibitor hif-phi efficacy safety pharmacokinetics
lyme borreliosis and early cutaneous diagnostic

Conditions: Erythema Migrans

Summary: test and evaluate a new diagnostic method (srm-ms/ms: selected reaction monitoring- mass spectrometry) for lyme borreliosis on human skin biopsies. patients included are those with the early skin manifestation (erythema migrans). this new proteomic method will be compared to the two existing method: culture of borrelia and pcr detection of borrelia (dna detection of the bacteria).


Eligibility criteria:
inclusion criteria: * erythema migrant as criteria eucalb or atypical form associated to tick's sting * patient having signed a consent * patient affiliated to a social security scheme exclusion criteria: * prior treatment with antibiotics * erythema migrans on the face * bleeding disorders * anticoagulant treatment * inability to give clear information (subject in an emergency situation, understanding of the topic difficulty, ...)

Keywords: erythema migrans lyme early diagnosis skin biomarkers proteomics diagnostic mass spectrometry
neurobiological markers of treatment response for anxiety and ocd

Conditions: Obsessive-Compulsive Disorder; Social Anxiety Disorder; Panic Disorder

Summary: obsessive-compulsive disorder (ocd) and anxiety disorders are common and debilitating conditions which are often chronic when treatment is not provided. international guidelines recommend cognitive behavioral therapy (cbt) as the first-line treatment, and research has shown that cbt can be delivered over a concentrated period of time. the bergen 4-day treatment (b4dt) is an exposure-based treatment which is delivered over four consecutive days. b4dt has been shown to induce rapid and long-lasting remission in around 70% of patients. this provides a platform for studying psychological and neurobiological changes associated with treatment response and non-response. the present study will investigate longitudinal changes in psychological measures and dna methylation in patients who receive the b4dt, as well as a subset will also undergo multimodal brain imaging.

the primary study will include 500 ocd patients who will receive the b4dt. symptom severity will be prospectively measured before treatment, approximately 10 days after treatment and three months after treatment. saliva samples will be collected for later extraction of dna methylation during the first day of treatment, the last day of treatment, and three months after treatment. a substudy will use multimodal magnetic resonance imaging (mri) before treatment, approximately 10 days after treatment and three months after treatment. the substudy will also 100 patients with social anxiety disorder or panic disorder for dna methylation and mri, as well as 50 healthy controls for mri. clinical data will be collected from a consent-based quality register ("kvalitetsregister for konsentrerte behandlingsformat"). the aim of the study is to investigate changes in dna methylation as well as functional and structural brain networks that occur in patients undergoing b4dt, and to correlate these changes with immediate and long-term response to treatment.

Eligibility criteria:
inclusion criteria: * diagnosed with obsessive-compulsive disorder, panic disorder or social anxiety disorder using dsm-5 criteria * referred to national clinic for 4-day treatment, haukeland university hospital, bergen, norway * consented to participate in the "kvalitetsregister for konsentrerte behandlingsformat" exclusion criteria: * suicidal, ongoing mania, primary eating disorder, intellectual disability, ongoing psychosis, ongoing substance abuse for mri substudy: inclusion criteria: - for the healthy controls, no previous or current psychiatric disorders as detected by the mini international neuropsychiatric interview (mini) exclusion criteria: - mri incompatibility (e.g. pregnancy, metal implants)

Keywords: mri epigenetics genetics
tobacco exposure and influencing factors of smoking cessation among chronic kidney disease patients

Conditions: Smoking Cessation

Summary: the purpose of this study is to describe the tobacco exposure and characteristics of patients with chronic kidney disease (ckd) who quit smoking, to identify patients' tobacco-related knowledge, attitude, and practice (kap) and explore the influencing factors of smoking cessation.

participants will be invited to recall their smoking status and tobacco-related kap. smokers need to identify their smoking cessation behavior. first part: participants need to finish the questionnaire, which includes the demographic information sheet, characteristics of smoking sheet, and tobacco-related kap. including (a) patients' knowledge of health risks of tobacco and tobacco-related diseases (the delphi method was used to construct this knowledge questionnaire); and (b) perceptions of tobacco harm. second part: smokers need to finish the questionnaire, which includes history of smoking cessation sheet, attitudes towards tobacco control smoking cessation, nicotine dependence sheet, tobacco withdrawal symptoms sheet, intention to quit smoking sheet, ability to quit smoking sheet, alcohol use disorders and physical activity.

Eligibility criteria:
inclusion criteria: 1. participants aged 18 years or older; 2. participants with a confirmed diagnosis of chronic kidney disease; 3. participants were able to speak and read chinese.; exclusion criteria: 1. participants who with psychiatric illness, disorders of consciousness, communication impairments, were unable to communicate effectively; 2. participants who have acute and life-threatening exacerbations which require urgent treatment; 3. patients who currently involved in other smoking cessation programs.

Keywords: chronic kidney disease smoking cessation behavior cross-sectional study tobacco-related knowledge, attitudes, and practice tobacco exposure
outcomes post treatment: impact on motor impairment of sleep efficiency in sci (optimise sci trial)

Conditions: Spinal Cord Injuries; Spine Disease

Summary: this randomized clinical trial will compare three groups of individuals with cervical/thoracic, complete or incomplete spinal cord injury (sci) that will undergo: (i) early cpap therapy in the management of moderate-to-severe sleep-related breathing disorders (srbds) among adults at 6 weeks after sci; (ii) delayed cpap therapy in the management of moderate-to-severe srbds among adults at 22 weeks after sci; and (iii) no treatment as they either have mild or no srbd.


Eligibility criteria:
inclusion criteria: * english-speaking adults (18 years of age or older) * acute (≤ 30 days after injury), cervical/thoracic (injury level at c2 to t12), complete or incomplete (ais a to d) sci * not being treated for sleep apnea prior to the spinal cord impairment onset. exclusion criteria: * non-traumatic spinal cord disease at risk for neurologic progression (e.g., demyelinating spine diseases such as neuromyelitis optica and multiple sclerosis, spinal cord malignancy) * concomitant diseases of the central nervous system * preinjury chronic pain * other pre-existing diseases of the central nervous system * significant psychiatric disorders with recent episode of exacerbation * neuromuscular diseases * current substance misuse * known history of primary hypersomnia or secondary hypersomnia of any cause except for srbds (e.g., hypothyroidism, moderate or severe iron deficiency anemia, infections, depression, kidney failure, chronic fatigue syndrome, neurodegenerative diseases, and myotonic dystrophy) * epilepsy * vitamin b12 deficiency

Keywords: sleep apnea sleep-related breathing disorders
effect of educational program about preventive care bundle for prevention of ventilator associated pneumonia among newborns

Conditions: Ventilator Associated Pneumonia

Summary: this study is designed to investigate the effect of educational program for nurses about preventive care bundle for prevention of ventilator associated pneumonia among newborns.

neonatal ventilator associated pneumonia (vap) is a common nosocomial infection and a frequent reason for empirical antibiotic therapy in nicus. ventilator associated pneumonia (vap) is defined as a nosocomial lower airway infection in intubated patients with onset after 48 h or more of invasive mechanical ventilation.prevention of vap has been primarily achieved by the "bundle approach"; this involves the simultaneous application of several preventive strategies for all patients.in egypt and other developing countries, reports on the success of vap intervention strategies, particularly among neonates, are scarce. so, it is important to conduct educational programs for nurses about vap to decrease its incidence.

Eligibility criteria:
inclusion criteria: * gestational age ≥34 weeks * intubated newborns and those expected to receive mechanical ventilation for more than 48 hours. exclusion criteria: * newborns with diagnosis of pneumonia at the time of admission. * newborns developed pneumonia in the first 48 hours of mechanical ventilation. * newborns subjected to reintubation. * immunosuppressed newborns.

Keywords: newborn