Kornimate/medical-research-clean huggingface dataset:
a natural history study in pediatric participants with hearing loss due to otof, gjb2, or gjb2/gjb6 mutations

Conditions: Congenital Hearing Loss Secondary to Biallelic Mutations in the Otoferlin Gene (OTOF); Biallelic Mutations in the Gap Junction Beta 2 (GJB2) Gene; Digenic Mutations in GJB2/Gap Junction Beta 6 (GJB6) Genes

Summary: this is an observational study to examine the characteristics of gene-related hearing loss in pediatric participants with biallelic otoferlin (otof) mutations, gap junction beta 2 (gjb2) mutations, or digenic gjb2/gap junction beta 6 (gjb6) mutations. this study will follow the participant for 4 years with annual visits each year.

former sponsor decibel therapeutics this is a longitudinal, retrospective and prospective, low interventional study designed to collect data on the natural history of pediatric participants with otof, gjb2, or gjb2/gjb6 gene mutations to assess hearing-related outcomes, auditory skills, and speech perception. no investigational product will be administered. at study visits, participants will undergo physiological and behavioral assessments of hearing and vestibular function. additionally, parents/legal guardians or participants will complete questionnaires that will include the capture of epidemiologic, quality-of-life, auditory and language development, and health resource utilization information.

Eligibility criteria:
inclusion criteria: * participant is no older than 7 years (inclusive) at the time of the parent/legal guardian signing the informed consent form (icf) * participant has 1 of the following genotypes and meets the associated audiologic criteria based on physiologic and/or behavioral measures of inner ear function: * biallelic pathogenic or likely pathogenic otof mutations with severe to profound sensorineural hearing loss (snhl; ≥ 85 db hl) and confirmed presence of oaes * biallelic pathogenic and truncating gjb2 mutation(s) with moderate or moderately-severe snhl (≤41 to \<71 db hl) * digenic pathogenic or likely pathogenic mutations in gjb2 and gjb6 genes with mild or worse snhl (\>26 db hl) * participant has at least 1 ear that has not received a cochlear implant (ci) exclusion criteria: * history of or active participation in an interventional trial related to hearing loss * history or presence of any other permanent/untreatable hearing loss conditions, including genetic conditions other than those involving biallelic otof or gjb2 mutations, or digenic gjb2/gjb6 mutations * history of treatment with ototoxic drugs

Keywords: congenital hearing loss sensorineural hearing loss auditory neuropathy pediatric cochlear implant otoferlin gjb2 gjb6 otof deaf hard of hearing hearing impaired hearing disorder fully implantable hearing aid child infant ensemble gap junction beta 6 genes gap junction beta 2 genes
forecasting ed overcrowding with statistical methods: a prospective validation study

Conditions: Emergencies

Summary: the aim of this study is to prospectively validate statistical forecasting tools that have been widely used retrospectively in forecasting ed overcrowding

emergency department (ed) overcrowding is a chronic international issue that has been repeatedly associated with detrimental treatment outcomes such increased 10-day-mortality. forecasting future overcrowding would enable pre-emptive staffing decisions that could alleviate or prevent overcrowding along with its detrimental effects. over the years, several predictive algorithms have been proposed ranging from generalized linear models to state space models and, more recently, deep learning algorithms. however, the performance of these algorithms has only been reported retrospectively and the clinically significant accuracy of these algorithms remains unclear. in this study the investigators aim to investigate the accuracy of the previously reported ed forecasting algorithms in a prospective setting analogous to the way these tools would be used if used implemented as a decision-support system in a real-life clinical setting.

Eligibility criteria:
inclusion criteria: * all patients presenting in the emergency department exclusion criteria: * no exclusion criteria

Keywords: emergency department overcrowding forecasting artificial intelligence deep learning
prognostic value of circulating tumoral free dna versus circulating tumoral cells in patients with colorectal cancer stage ii-iii

Conditions: Colorectal Neoplasms

Summary: after curative surgical resection, detection of metastatic lymph node remains the main prognostic validated criteria on which is based the decision of adjuvant therapy. to date, none of the molecular alterations, identified as potentially predictive factor, are used in routine for therapeutic decision. the circulating markers, either in the form of free circulating dna or in the form of circulating tumoral cells seems important potential candidates. to investigators knowledge, only one study estimated with several interesting results the prognostic interest of a coupled detection of the free circulating mutant dna (gene kras) and by the hypermethylation of the p16 gene. definitive conclusions remain however difficult to achieve because of the small number of patient included (n=58) and the fact that this study included different stages. for colorectal cancer a chinese team presented a series of results suggesting that the presence of ctc during the postoperative course is a factor significantly related to the risk of recurrence. in multivariate analysis integrating the lymph node status and the vascular invasion, the presence of ctc appeared as an independent factor for recurrence with a hazard ratio of 29.5. the aim of the present study is to compare the prognostic value of two circulating tumoral markers kras point mutations and rassf2a methylation (free tumoral dna) and circulating tumoral cells (ctc). the primary objective is to compare sensibility and specificity of two circulating markers (free tumoral dna and tumoral cells) on 2 years disease free survival rate. secondary objective is to confirm the prognostic value of circulating free tumoral dna and circulating tumoral cells in localised colorectal cancer.


Eligibility criteria:
inclusion criteria: * male or female, age superior to 18 years. * histologically confirmed colonic or rectal adenocarcinoma. * stage ii or iii (tnm classification). * curative resection (r0) * absence of metastasis (abdominal ultrasonography or ctscan and pulmonary rx or ctscan) in exams performed within 4 weeks. * ecog performance status \<3. * signed and dated informed consent document. exclusion criteria: * metastatic disease. * familial adenomatous polyposis * prior chemotherapy and or radiotherapy within 6 weeks * medical history of cancer within 5 years except: basocellular cutaneous neoplasia and intraepithelial neoplasia of the cervix
intra-articular botox type a versus corticosteroids in knee osteoarthritis

Conditions: Knee Osteoarthritis

Summary: introduction: osteoarthritis of the knee is a very common disease. however there are few treatment options for these patients. botulinum toxin type a is an option for chronic pain. if the investigators prove effectiveness of its use for intra-articular analgesia, botulinum toxin type a can be useful for treat these patients. objective: compare the effectiveness of the use of intra-articular corticosteroid versus botulinum toxin type a in the treatment of patients with knee osteoarthritis. methods: a prospective controlled randomized double blind studied with three groups (n = 35 each group) of patients with symptomatic osteoarthritis of the knees receive intra-articular medication in a single moment will be undertaken. the three groups will be: botulinum toxin type a group: patients who receive 100 units of botulinum toxin; hexacetonide of triamcinolone group: patients who receive 40mg of triamcinolone hexacetonide, and saline group: patients who receive 2ml of normal saline. patients will be assessed by evaluators " blind " in 4 times during 12 weeks of follow-up with clinical assessment instruments (pain, quality of life questionnaire as short form 36 questionnaire) , functional ( womac questionnaire) , and ultrasound (quantitative and semi quantitative measure of synovial hypertrophy and semi quantitative power doppler ) .the following statistical tests will be used : student's t test, mann - whitney , chi- square test and anova for repeated measures . will be considered as statistical significance the difference of 5 %.


Eligibility criteria:
inclusion criteria: * age above 50 years * diagnose of knee osteoarthritis using clinics and radiographic criteria * pain for more than 6 months * analogic visual scale among 4 to 8 * patients who agree to sign informed consent exclusion criteria: * secondary osteoarthritis * skin lesion * use of intraarticular corticosteroid in the last 3 months * use of oral corticosteroid in the last 30 days * kellgren lawrence i or iv * inflammatory arthritis * neuromuscular disease * use of aminoglycoside antibiotics * metalic prosthesis in knee * peripheric neuropathy * serious cardiovascular or pulmonary disease * serious disorder of coagulation * pregnancy or breastfeeding * infections * use of wheelchair

Keywords: knee osteoarthritis intra-articular injection botulinum toxin type a corticosteroid
a study to test whether nintedanib influences the components of birth-control pills in women with systemic sclerosis associated interstitial lung disease (ssc-ild)

Conditions: Scleroderma, Systemic

Summary: the main objective is to assess the potential influence of continuous intake of nintedanib on the systemic exposure of ethinylestradiol and levonorgestrel when administered in combination.


Eligibility criteria:
inclusion criteria: * age \>= 18 years * a woman of non-child bearing potential, i.e. being postmenopausal1 or permanently sterilised (e.g. hysterectomy, bilateral oophorectomy, or bilateral salpingectomy), or a woman of childbearing potential correctly and consistently using a highly effective method of non-hormonal birth control (i.e. iud or bilateral tubal ligation) together with barrier methods at least 30 days prior to first administration of microgynon® (visit 2), during the trial and for 3 months after last intake of nintedanib. * 2013 american college of rheumatology (acr) / european league against rheumatism (eular) classification criteria for systemic sclerosis associated interstitial lung disease (ssc) fulfilled * ssc related interstitial lung disease confirmed by high resolution computer tomography (hrct); extent of fibrotic disease in the lung \>= 10% * forced vital capacity (fvc) \>= 40% of predicted normal * carbon monoxide diffusion capacity (dlco) 30% to 89% of predicted normal * further inclusion criteria apply exclusion criteria: * aspartate transaminase (ast), alanine transaminase (alt) \>1.5 x upper level of normal (uln). * bilirubin \>1.5 x uln * creatinine clearance \<30 ml/min * clinically relevant anaemia at investigators discretion * airway obstruction (pre-bronchodilator forced expiratory volume in 1 second (fev1)/forced vital capacity (fvc) \<0.7) * other clinically significant pulmonary abnormalities * significant pulmonary hypertension (ph) * cardiovascular diseases * more than 3 digital fingertip ulcers or a history of severe digital necrosis requiring hospitalization or severe other ulcers * bleeding risk (such as predisposition to bleeding, fibrinolysis, full-dose anticoagulation, high dose antiplatelet therapy, history of hemorrhagic central nervous system (cns) event within last year * international normalised ratio (inr) \>2, prolongation of prothrombin time (pt) and partial thromboplastin time (ptt) by \>1.5 x uln) * history of thrombo-embolic event within last year * previous or planned hematopoietic stem cell transplantation * clinical signs of malabsorption or needing parenteral nutrition * patients with underlying chronic liver disease (child pugh a, b, c hepatic impairment) * previous treatment with nintedanib or pirfenidone * further exclusion criteria apply
cosopt versus xalacom

Conditions: Open-Angle Glaucoma; Ocular Hypertension

Summary: to compare the intraocular pressure efficacy and safety of the dtfc given twice daily versus the ltfc given once every morning following a run-in period with timolol maleate given twice daily.


Eligibility criteria:
inclusion criteria: * adults with primary open-angle or pigment-dispersion glaucoma, or ocular hypertension * at baseline the intraocular pressure should be 20 to 32 mm hg inclusive at 08:00 measurement (visit 2) after dosing with timolol the evening before * the intraocular pressure should be 32 mm hg or less at all the time points in both eyes at visit 2 * visual acuity should be 6/60 or better in the study eye(s) exclusion criteria: * any anticipated change in systemic hypotensive therapy during the trial * use of any corticosteroids by any route for more than two weeks during the study * contraindications to study medicines
study evaluating efficacy and safety of pf-04523655 versus laser in subjects with diabetic macular edema

Conditions: Diabetic Retinopathy; Diabetes Complications

Summary: to evaluate the effectiveness of study drug in improving visual acuity compared to laser treatment in the patients with diabetic macular edema

degas termination decision date was december 17, 2010. rationale: the objectives of the study could no longer be achieved. the study was not terminated for safety.

Eligibility criteria:
inclusion criteria: * patients with diabetes mellitus (type 1 or type 2) showing diabetic macular edema in the eye. exclusion criteria: * proliferative diabetic retinopathy in the study eye. * subjects receiving concomitant intravitreal anti-vegf therapy.

Keywords: phase ii prospective randomized diabetic macular edema pf-04523655 laser
gastric procedures for obesity

Conditions: Morbid Obesity

Summary: this is a prospective case series study; all morbidly obese patients that need surgical management in royal alexandra hospital will be provided 3 surgical options: laparoscopic sleeve gastrectomy (lsg), laparoscopic roux-en-y gastric bypass (lr-en-y), and laparoscopic gastric banding (lgb), safety and effectiveness will be compared among the 3 groups. the outcome measures will be percentage of excess weight loss, bmi, operative time, hospital stays, complications and improvement of comorbidities.


Eligibility criteria:
inclusion criteria: * morbid obese patients aged from 18-65, * bmi \> 40 kg/m2 or bmi\> 35 kg/m2 with severe comorbidities: diabetes, sleep apnea, hypertension etc. exclusion criteria: * psychiatric illness, * substance abuse, * previous gastrointestinal surgery, and * any patient who transfers from laparoscopic to convention procedure.
transarterial ethanol ablation(tea) for unresectable hepatocellular carcinoma(hcc)

Conditions: Hepatocellular Carcinoma

Summary: the objective of this trial was to evaluate the clinical outcome, treatment toxicity and tumor response of tea for unresectable hcc.

transarterial therapy has been playing an important role in the treatment algorithm for patients with multifocal or large intrahepatic lesions not eligible for surgical resection, transplantation, or local ablative therapy. among the various options of transarterial therapy including chemoembolization (tace), bland embolization, radioembolization, and tea, chemoembolization is the only one that has been proven to be of survival benefits versus best supportive care in randomized controlled trials. tea is a hybrid of bland embolization and chemical ablation. utilizing a liquid agent of lipiodol-ethanol mixture consisting of 33% ethanol by volume, tea offers complete and long lasting embolization of both the arterioles and portal venules supplying the tumor and could possibly be more effective than particulate embolic agents in tumor vessel embolization. the component of ethanol very likely offers synergistic effect to embolization and causes tumor ablation.

Eligibility criteria:
inclusion criteria: * signed informed consent by patient * age above 18 years * child-pugh a or b cirrhosis * eastern cooperative oncology group(ecog) performance score 2 or below * no serious concurrent medical illness * no prior treatment or surgery for hcc * histologically or cytologically proven hcc except for lesions of size 1 to 2 cm, with typical features of hcc on two dynamic imaging techniques, or lesions larger than 2cm, with typical features on one dynamic imaging techniques, or lesions larger than 2cm with alpha feto protein(afp) level \> 200 ng/ml * unresectable disease without extra-hepatic involvement on chest x-ray(cxr) and ct * massive expansive tumor type with measurable lesion on ct * total tumor mass \< 50% liver volume * tumor size ≤ 15cm in largest dimension * tumor number ≤ 5 exclusion criteria: * history of prior malignancy except on the condition that the patient has been disease free for ≥ 3 years * concurrent ischemic heart disease or heart failure * history of acute tumor rupture presenting with hemo-peritoneum * serum creatinine level \> 180 umol/l * biliary obstruction not amenable to percutaneous drainage * child-pugh c cirrhosis * history of hepatic encephalopathy * intractable ascites not controllable by medical therapy * history of variceal bleeding within last 3 months; serum total bilirubin level ≥ 50 umol/l * serum albumin level \< 25g/l * international normalized ratio(inr) \> 1.5 * extrahepatic metastasis * infiltrative or diffuse tumor * tumor number \> 5 * thrombosis of target hepatic artery * partial or complete thrombosis of the main portal vein; tumor invasion of portal branch of contralateral lobe * hepatic vein tumor thrombus * significant arterio-portal venous shunt * significant arterial-hepatic venous shunt
automatic administration of oxygen during respiratory distress

Conditions: Acute Respiratory Distress Syndrome; Hypoxemia

Summary: aim: the purpose of this study is to evaluate the use feasibility of freeo2 so as to deliver automatically oxygen in the emergency department in a patient population admitted for acute respiratory failure. hypothesis: the principal hypothesis is that freeo2 is possible and well-accepted by nurses and medical personnel and there are advantages to use this system. in comparison with the common oxygen delivery (the rotameter), the hypothesis is that freeo2 system will make for a better control of the oxygen saturation in function of designed target, reducing the desaturation time and hyperoxia. we think that oxygen weaning will be faster than classical way if it is automated. in addition, freeo2 could reduce the number of intervention by nurse personnel.


Eligibility criteria:
inclusion criteria: * admission to the emergency for respiratory disease (or cardiac - acute pulmonary edema)justifying an oxygen administration to over 3 l / min to maintain a spo2 ≥ 92%. * inclusion within a time less than two hours after the start of the oxygen at the emergency. * patient consent,or a close. exclusion criteria: * necessity of an oxygen flow exceeds 15 l / min to maintain a spo2 higher than 92%. * criteria of gravity justifying immediately a different technique of ventilatory support: * disturbance of consciousness with a glasgow coma score ≤ 12 * serious ventricular rhythm disorders * hemodynamic instability (sbp \<80mmhg or recourse to vasopressors) * cardiac or respiratory arrest * ph \ 55 mm hg * necessity of a urgent surgery, or coronary revascularization * age \<18 years * pregnant women, lactating * patient not relevant * unavailability of the prototype freeo2
using ca-41 methodology to assess the impact of different vitamin d supplementation levels on postmenopausal bone health

Conditions: Osteopenia

Summary: the purpose of this study is to determine whether increasing levels of serum 25(oh)vitamin d as achieved by oral supplementation higher than the current recommendations are associated with a less negative bone calcium balance in post-menopausal swiss women.

in a substudy - not related to the vitamin d intervention - spot and 24 h urine samples are compared with regard to the assessment of iodine status in swiss post-menopausal women. in an short subsequent study using five of the subjects who participated in the original trial, the effect of a 40 d-exercise program (rebounding on a trampoline) on ca-41 excretion will be observed.

Eligibility criteria:
inclusion criteria: * apparently healthy women, at least 5 years post-menopausal * bmi 18-30 * no hrt * no regular intake of ca or vit d supplements * wiling and able to give written informed consent and to understand, participate and comply with study requirements * non-smokers * no long travels (\>3 wk) planned within study period exclusion criteria: * diseases that predispose to osteoporosis * history of fragility fractures * currently on a weight reduction program * excessive physical activity * diseases influencing calcium metabolism (thyroid, parathyroid, adrenal disorders etc.) * regular intake of medication affecting calcium metabolism * osteoporosis (t-score below -2.5) * history of psychological illness likely to interfere with the subject's ability to understand the requirements of the study * participation in concurrent studies
intravitreal aflibercept injection in vision impairment due to dme

Conditions: Diabetes Mellitus; Macular Edema

Summary: to determine the efficacy of intravitreally (ivt) administered vegf trap-eye on the best-corrected visual acuity (bcva) assessed by the early treatment diabetic retinopathy study (etdrs) chart in subjects with diabetic macular edema (dme) with central involvement


Eligibility criteria:
inclusion criteria: * adults ≥ 18 years with type 1 or 2 diabetes mellitus * subjects with dme secondary to diabetes mellitus involving the center of the macula in the study eye * decrease in vision determined to be primarily the result of dme in the study eye * bcva etdrs letter score of 73 to 24 (20/40 to 20/320) in the study eye exclusion criteria: * laser photocoagulation (panretinal or macular) in the study eye within 90 days of day 1 * more than 2 previous macular laser treatments in the study eye * previous use of intraocular or periocular corticosteroids in the study eye within 120 days of day 1 * previous treatment with antiangiogenic drugs in either eye (pegaptanib sodium, bevacizumab, ranibizumab etc.) within 90 days of day 1 * active proliferative diabetic retinopathy (pdr) in the study eye, with the exception of inactive, regressed pdr * uncontrolled diabetes mellitus, as defined by hba1c \> 12% * only 1 functional eye even if that eye is otherwise eligible for the study

Keywords: diabetic macular edema (dme) vegf trap-eye best-corrected visual acuity (bcva)
a multimodal intervention for community-dwelling individuals with unwanted loneliness

Conditions: Loneliness; Mental Health Disorder

Summary: the absence of social relationships negatively affects physical, psychological, and social health. in other words, it alters people's quality of life and makes active aging difficult. the investigators have designed a study to reduce unwanted loneliness in people over 65 living in the community through multiple interventions (music therapy, health education, and physical exercise).

the proposed study will involve 4 group sessions each week for a total of 13 weeks. the program will include the following activities: physical exercise adapted to the physical conditions of each participant. total of 26 sessions (2 per week). health education workshops. a total of 12 workshops. these will include group training talks on the following topics: sleep hygiene, diet, and cognitive stimulation, among others. music therapy workshops. through listening to songs, singing, dancing, guided relaxation with music, and group instrumental performance, the enjoyment and expression of feelings will be encouraged. there will be 1 session per week. total 12 sessions.

Eligibility criteria:
inclusion criteria: * over 60 years of age with unwanted loneliness * must live in the city of valencia * must speak spanish or valencian (or have sufficient knowledge to be able to answer the questions in the study). exclusion criteria: + severe mental disorder or dementia.

Keywords: music therapy