Kornimate/medical-research-clean huggingface dataset:
rescue of infants with mct8 deficiency

Conditions: Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency

Summary: monocarboxylate transporter 8 (mct8) deficiency (that is also known as allan-herndon-dudley syndrome) is a rare x-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. this condition, which occurs almost exclusively in males, disrupts development from before birth.


Eligibility criteria:
inclusion criteria * genetic confirmation: male fetus or fetuses (including monozygotic twin pregnancies) must have a confirmed mct8 gene mutation. * family history: a previously born child or children with a severe, typical phenotype and an mct8 gene mutation identical to that of the fetus. * alternatively, the mother or a sister must have a relative with a known mct8 defect. * parental decision: parental refusal to terminate the pregnancy despite the diagnosis of mct8 deficiency. * compliance and availability: willingness of the parents to comply with all study procedures and ensure availability for the duration of the study. exclusion criteria: • pregnancy-related factors: dizygotic (non-identical) twin pregnancy (unless only one fetus is confirmed with the mct8 mutation, and the unaffected fetus will not be treated). parental decision to terminate the pregnancy. • maternal medical conditions: hyperthyroidism requiring treatment. significant liver or kidney insufficiency. congestive heart failure. hyperemesis gravidarum unresponsive to treatment. * significant cardiac conditions, including: * atrial fibrillation or other arrhythmias. * unstable angina. * coronary heart disease. * medications: current use of sympathomimetic therapy. anticoagulant therapy. use of cytochrome p450 2c9 (cyp2c9) inhibitors with a narrow therapeutic index. • other factors: major illness or recent major surgery within four weeks of baseline visit 1, unrelated to mct8 deficiency.
3t mri cied post-approval study

Conditions: Cardiac Rhythm Disorder

Summary: the purpose of this study is to evaluate product performance of magnetic resonance (mr) conditional cardiac implantable electronic devices (cied) following 3 tesla (3t) mri exposure. this will be achieved by evaluating the changes in pacing capture threshold (pct) measurements following 3t mri scan exposure. this study is required by fda as a condition of approval of 3t mri compatible labeling of applicable cied systems. this study is conducted within medtronic's post-market surveillance platform, the product surveillance registry (psr).


Eligibility criteria:
inclusion criteria: * subject or legally authorized representative provides written authorization and/or consent per institution and geographical requirements * subject is intended to be implanted or is within 30 days post-implant of a qualifying medtronic 3t mr conditional cied system exclusion criteria: * subject who is, or will be inaccessible for follow-up at a study site * subject with exclusion criteria required by local law (europe, central asia \[eca\] only) * implant and follow-up data, including any adverse device effects and system modifications at implant through the time of enrollment are unavailable

Keywords: 3t magnetic resonance imaging (mri) implantable cardioverter defibrillator (icd) implantable pulse generator (ipg) cardiac resynchronization therapy (crt) cardiac implantable electronic device (cied)
real world evidence clinical utility study of kidneyintelx

Conditions: Chronic Kidney Diseases; Diabetic Kidney Disease

Summary: the purpose of this study is to assess the impact of the kidneyintelx assay utilized as part of the current standard of care on the management of patients seen in the primary care physician's office at mount sinai.


Eligibility criteria:
inclusion criteria: * individuals with type 2 diabetes and concurrent chronic (diabetic) kidney disease (g3a-g3b or g1-g2, a2-a3) per kdigo ckd staging. exclusion criteria: * patents without the appropriate characteristics as identified in the kidneyintelx intended use population. * patients with egfr \<30 or ≥ 60 ml/min/1.73m2 without albuminuria. * patients with esrd or on renal recovery treatments at time of enrollment. * patients who are pregnant at the time of enrollment. * patients who are currently hospitalized. * patients without minimum 6 month pre-baseline kidneyintelx medical history. * patients who are currently on enbrel.
efficacy of photobiomodulation in the rehabilitation of olfactory dysfunctions induced by long covid-19

Conditions: Anosmia; Ageusia; COVID-19; Rehabilitation; Laser Therapy

Summary: on january 30, 2020, the who (world health organization) declared the new coronavirus pandemic as the sixth public health emergency of international concern. in february 2020, the virus was designated by the coronavirus study group of the international committee on virus taxonomy as severe acute respiratory syndrome coronavirus 2. many reports have described the appearance of olfactory or gustatory dysfunction simultaneously with other pre-established symptoms of covid-19. symptoms such as loss of taste or smell may appear 2 to 14 days after being infected with covid-19. worldwide, evidence regarding anosmia (loss of smell) and dysgeusia (change in taste) has been associated with covid-19 infection. objectives: to evaluate the effectiveness of low-intensity laser in treating changes in smell and taste after covid-19 infection and map which changes obtained the best results. material and methods: this is an intervention study whose sample will consist of 30 individuals with loss of smell and taste for more than 6 months after covid-19 infection, aged 18 years or older.

objective: to evaluate the effectiveness of low-intensity laser in resolving chemosensory symptoms caused by covid-19. this is an intervention study. the sample will consist of 30 individuals who will be allocated to the low-intensity laser treatment group. the patients will come from research at the covid-19 outpatient clinic at the gafree guinle university hospital - unirio. patients who agree to participate in the study will be informed about the objective of the research and will sign an informed consent form.

Eligibility criteria:
inclusion criteria: * patients who complained of loss of smell and taste more than 6 months after covid-19 infection, aged 18 years or older, with proof of infection by pcr, will be included in the study. exclusion criteria: * patients with comorbidities prior to covid-19 infection that could interfere with the functions of smell and taste will be excluded from the study; patients with a history of head and neck cancer, epileptic patients; mouth breathing patients; and pregnant women.

Keywords: anosmia ageusia covid-19 rehabilitation photobiomodulation
aaa registry: clinical outcomes of highly angulated anatomy treated with the aorfix™ stent graft

Conditions: Abdominal Aortic Aneurysms

Summary: the archytas registry is a long-term, global, multicenter, non-randomized, prospective, registry designed to collect "on-label" data in real world clinical settings on patients undergoing endovascular repair with the latest generation aorfix™ aaa flexible stent graft system. registry data will augment existing data from ongoing and prospective aorfix™ clinical trials for the purposes of publication, general product development and quality measures.

the archytas registry is a long-term, global, multicenter, non-randomized, prospective, registry established by lombard medical ltd. (lombard) to collect "on-label" data in real world clinical settings on patients undergoing endovascular repair with the latest generation aorfix™ aaa flexible stent graft system, for treatment of abdominal aortic and aorto-iliac aneurysms in anatomy where the aorta in the aneurysm neck is bent through an angle between 0° and 90°. this indication for aorfix™ is approved in all territories where this registry is being operated and this registry does not seek to collect data on any use of the implant for which full commercial approval does not already exist. the archytas registry data will augment existing data from ongoing and prospective clinical trials with aorfix™ for the purposes of publication, general product development and quality measures.

Eligibility criteria:
inclusion criteria: 1. diagnosed abdominal aortic aneurysm with indication for endovascular repair. 2. intention to electively implant the aorfix™ stent graft system. exclusion criteria: 1. does not comply with the indications for aorfix™ in the instructions for use (ifu). 2. unwillingness or inability to comply with the recommended follow-up assessments according to the standards of care at the investigative site. 3. unwillingness or inability to provide informed consent to both the registry and the evar procedure. 4. patients in whom aorfix™ is being placed as a secondary procedure to a previous surgical or endovascular treatment of an aaa other than with another aorfix™ graft.

Keywords: abdominal aortic aneurysm aaa endovascular evar stent stent graft high angle tortuous
prospective validation study of an e-health tool for patient selection for scs

Conditions: Pain, Chronic

Summary: the goal of this observational study is to learn more about the selection of patients with chronic pain for spinal cord stimulation. the main question it aims to answer is to assess the predictive value of an e-health tool for patient outcomes. participants will be treated as normal and will be asked to complete patient questionnaires to evaluate their pain relief after receiving spinal cord stimulation. the e-health tool will not be used during the conduct of the study, as patient outcomes will only at the end of the study be compared with the recommendations made by the e-health tool.

this is a multicentre study within europe, prospectively collecting data from patients with a positive decision on scs, receiving either a direct implant or an scs screening trial. data will be collected by implant centres who have not previously used the e-health tool for scs patient selection (i.e. tool-naïve). furthermore, participating centres should declare neither to use the tool during the conduct of study nor on patients included in the study population. in addition, participating implant centres should have previous experience in conducting prospective clinical trials. baseline data should be collected at the moment of the final decision on scs (i.e., after multidisciplinary team consultation if applicable) using an online data capture program: * general baseline data * e-health tool variables * centre decision on scs (direct implant or trial) only for patients receiving scs (direct implant or positive trial), follow-up data at 6 and 12 months will be collected. afterwards, the prospectively collected data will be applied to the e-health tool and its recommendations compared with the centre decisions, trial results and patient outcomes.

Eligibility criteria:
inclusion criteria * age ≥18 years * chronic pain with a duration of least 6 months * one of the following primary indications: persistent spinal pain syndrome (psps) (type 1 and type 2), complex regional pain syndrome, neuropathic pain syndrome, ischaemic pain syndrome * pain severity at least moderate (vas ≥ 5, on average over the last month) having a substantial impact on daily functioning and quality of life at the discretion of the attending physician * insufficiently responding to appropriate trials of medication, conservative management (e.g. physiotherapy) and/or minimally invasive treatments (such as local anaesthetic nerve blocks), and/or experiencing intolerable side effects of these treatments * no clear benefits of surgery expected exclusion criteria * unwilling to have an implant * unable to manage the device * absolute contra-indications for active treatment (e.g. unfit for undergoing scs, pregnancy, spine- or skin-related infections, coagulation disorder) * uncontrolled disruptive psychological or psychiatric disorder at the discretion of the attending physician * ongoing alcohol and drug misuse * widespread pain * lack of reimbursement of scs

Keywords: scs e-health tool patient selection
corifollitropin alfa versus recombinant follicle stimulating hormone (fsh) in ovarian stimulation of women undergoing in vitro fertilisation

Conditions: Infertility

Summary: the use of corifollitropin alfa is superior in terms of pregnancy outcome parameters as compared to recombinant follicle stimulating hormone (fsh) during ovarian stimulation protocols in women undergoing in vitro fertilisation.


Eligibility criteria:
inclusion criteria: * women aged 18-36 years old with a body weight of more than 60 kg up to 90 kg * bmi of 18-32 kg/m2 * menstrual cycle length of 23-35 days * an indication for controlled ovarian stimulation for ivf or icsi exclusion criteria: * history of an endocrine abnormality * abnormal outcome of blood biochemistry or hematology * abnormal cervical smear * chronic disease * uterine pathology that interfering with the cos treatment (e.g. fibroids ≥ 5 cm)

Keywords: corifollitropin alfa fsh ovarian stimulation ivf
health effects of consuming olive pomace oil

Conditions: Healthy; Hypercholesterolemia

Summary: healthy and at risk (hypercholesterolemic) subjects consumed during 4 weeks 45 g/d of either olive pomace oil (opo) or sunflower oil (so) as the only dietary fat in a randomized, crossover trial. the effects on blood lipids, glucose homeostasis, endothelial function, inflammatory cytokines, oxidative stress biomarkers and anthropometry were measured.

the intervention aimed at studying the potential health effects of olive pomace oil in comparison with sunflower oil. after a 3-weeks run-in, 31 healthy (normocholesterolemic) and 37 hypercholesterolemic subjects were randomized to consume either opo or so (45 g/d) during 4 weeks, followed by a 3-week wash-out during which volunteers consumed the same amount of corn oil. during all the study, other dietary sources of fat (oil, nuts, butter, etc.) were restricted. food intake was monitored by 3-d food records in each intervention stage and volunteers were instructed to maintain their normal physical and dietary habits (except for the changes in the consumption of other oils and fats). at the beginning and end of each intervention stage, blood and urine samples were obtained, and blood pressure and anthropometric measurements were performed. a complete batch of analysis were performed, including serum lipids, endothelial function (endothelial nitric oxide synthase (enos), vascular (vcam-1) and intercellular (icam-1) cell adhesion molecules, e- and p-selectins), inflammatory and anti-inflammatory cytokines, glucose homeostasis/insulin resistance, antioxidant status and biomarkers of lipid oxidation (malondialdehyde (mda), ldlox, ferric reducing antioxidant power (frap), oxygen radical absorbance capacity (orac), abts (2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid) quenching capacity) and anthropometry, along with determination of incretins, adipokines, and other clinical and hematological parameters.

Eligibility criteria:
inclusion criteria: * healthy volunteers (total cholesterol \< 200 mg/dl; ldl-cholesterol \< 135 mg/dl) * hypercholesterolemic volunteers (total cholesterol 200-300 mg/dl; ldl-cholesterol 135-175 mg/dl) exclusion criteria: * bmi \> 30 kg/m2 * smokers * vegetarians * pregnant women * medication/consumption of vitamins, dietary supplements * on antibiotic treatment 3 months before starting the study * digestive disorders/pathologies (gastric ulcer, chron's disease, inflammatory bowel syndrome, etc.) * food allergies/intolerances

Keywords: olive pomace oil lipaemia glucose homeostasis inflammation oxidative stress biomarkers endothelial function
effortful swallow maneuver for swallowing impairment in people with parkinson disease

Conditions: Parkinson Disease; Dysphagia

Summary: context: many people with parkinson disease (pwpd) experience swallowing difficulties, particularly with food/liquid going down the wrong way or remaining in the throat after swallowing. prior studies suggest that exercise-based treatments targeting swallowing strength may be effective in reducing these difficulties. research question: does an exercise-based treatment involving the effortful swallow maneuver improve swallowing function in pwpd? study plan: the investigators will study the effects of a four-week intensive swallowing rehabilitation program in pwpd, over a 2-year period.

the investigators will study the effects of a four-week intensive swallowing rehabilitation program in pwpd, over a 2 year period. the program will involve daily practice of the effortful swallowing maneuver, with swallowing function assessed before and after the treatment program using videofluoroscopic x-rays. expected outcomes: in other populations, the effortful swallow has shown to address two mechanisms that are thought to underlie swallowing impairment in parkinson disease: slowness in achieving airway protection and weakness in muscles responsible for transporting food through the throat. the investigators expect that repeated practice of this maneuver by pwpd will lead to improved airway protection and improved clearance of residue from the throat.

Eligibility criteria:
inclusion criteria: * at least 18 years old * english-speaking * able to follow study instructions * neurologist confirmed diagnosis of pd * hoehn and yahr scale score of 2 or 3 * self-report of one or more swallowing or related symptoms: 1. difficulty with secretion management 2. coughing at the meal time 3. choking on food 4. respiratory infection in the past 6 months (other than covid) exclusion criteria: * history of head and neck cancer * radical neck dissection (e.g. anterior cervical spine surgery) or neck/ oropharyngeal surgery (not excluded - tonsillectomy, adenoidectomy) * past medical history of any neurological disease other than pd (e.g. multiple sclerosis, amyotrophic lateral sclerosis, traumatic brain injury, stroke) * cognitive or receptive communication difficulties that preclude the participant's ability to follow study instructions provided in english. this will be determined by the participant's physician prior to referring them to the study.
c11 sodium acetate pet/ct imaging of pca

Conditions: Prostate Cancer

Summary: the investigators propose to conduct carbon-11 sodium acetate pet/ct studies. the purpose of our study is to evaluate the impact of carbon-11 sodium acetate pet/ct studies on patient management in patients with prostate cancer.

this is an expanded access study under an ind with a total of 300 participants with prostate cancer. eligible participants will undergo baseline assessments at enrollment. study participants will receive 11c-sodium acetate and will undergo a pet/ct imaging study. all patients referred by oncologists and urologists will be screened by a ucla nuclear medicine physician and then accepted for scanning if clinically appropriate. the following steps will take place. 1. informed consent will be obtained. 2. vital signs (heart rate, blood pressure, respiratory rate, pulse oxymetry) will be recorded. 3. participant will be injected with 20 - 40mci of 11c-sodium acetate intravenously (i.v.). 4. pet/ct scans will be performed with or without oral and iv contrast. all investigational scans will be read by at least one board-certified nuclear medicine physician with established expertise in pet/ct of at least 5 years' experience. fifteen minutes after injection of 11c-sodium acetate, the investigators will acquire a scan. emission images will be acquired for 3-5min/bed position. intravenous and oral contrast will be given for the ct portion of the study. 5. vital signs (heart rate, blood pressure, respiratory rate, pulse oxymetry) will be recorded following the completion of the scan. 6. within 24-48 hours of pet/ct imaging, a follow-up telephone call or email will be conducted to discuss any side effects or reactions to the investigational agent.

Eligibility criteria:
inclusion criteria: * diagnosed prostate cancer * able to remain still for duration of each imaging procedure (about 30 minutes) exclusion criteria: * inability to complete the needed investigational and standard-of-care imaging examinations due to other reasons (severe claustrophobia, radiation phobia, etc.) * any additional medical condition, serious concurrent illness, or other extenuating circumstance that, in the opinion of the investigator, may significantly interfere with study compliance.

Keywords: prostate cancer diagnostic imaging pet/ct acetate carbon-11
association of systemic immune-inflammation index and severity of diabetic ketoacidosis in type 1 diabetes mellitus

Conditions: Diabetic Ketoacidosis

Summary: diabetic ketoacidosis (dka) is the most serious metabolic complication of type 1 diabetes mellitus (t1dm). insulin deficiency and inflammation play a role in the pathogenesis of dka. the investigators aim to assess the systemic immune-inflammation index (sii) as a marker of severity among t1dm patients with dka and without infection.

diabetic ketoacidosis (dka) is one of the most severe acute metabolic complications of diabetes mellitus (dm). therefore, dka patients require prompt treatment and any delay in identifying severe dka cases can lead to worse outcomes. dka provokes a systemic inflammatory response through increased levels of various cytokines such as interleukin (il)-8, il-6, il-10, tumor necrosis factor-alpha (tnf-α), and il-1b. this will lead to cellular activation, cellular adhesion, increased oxidative stress, and endothelial damage, possibly contributing to complications. consequently, surrogate markers of inflammation and immune status may help in the early identification of patients with severe dka. the systemic immune-inflammation index (sii) had a better prognostic value compared to nlr and plr among cancer patients. recently, studies have suggested a link between sii and increased risk of atherosclerotic cardiovascular disease (ascvd), hepatic steatosis, and worse outcomes among hypertensive patients and patients with stroke. therefore, the investigators aim to examine sii as a marker of severity in t1dm patients with dka in an uninfected state.

Eligibility criteria:
inclusion criteria: * diagnosis of t1dm * hospitalization because of dka * age ≥ 12 years. exclusion criteria: * diagnosis of t2dm * diagnosis of infection * renal impairment * malignancy * ascvd (atherosclerotic cardiovascular disease) * history of any medical condition or medications that can change cbc parameters or cause metabolic acidosis * pregnancy

Keywords: complete blood count diabetes mellitus diabetic ketoacidosis systemic immune inflammation index.