Kornimate/medical-research-clean huggingface dataset:
differential ebi2 expression upon allelic status of the rs9557195 polymorphism

Conditions: Inflammatory Bowel Diseases

Summary: ebi2 is a risk gene for inflammatory bowel diseases (rs9557195). patients of the swiss ibd cohort study have been genotyped for the allelic status of ebi2. the investigators will test the influence of rs9557195 genoty (tt or cc allel), inflammatory activity and current treatment (infliximab vs. vedolizumab) on expression and activity of ebi2 on blood lymphocytes, mrna expression of ebi2 and ubac2 (located on the opposite dna strand of ebi2) and activity of lymphocytes on a migraton assay.

ebi2 is a risk gene for inflammatory bowel diseases (rs9557195). ebi2 is a g protein coupled receptors expressed on the immune cells. ebi2 directs migration and activity of immune cells. patients of the swiss ibd cohort study have been genotyped for the allelic status of ebi2. the investigators will recruit patients with crohn's disease and ulcerative colitis, assess epidemiological and clinical parameters (including clinical activity of ibd) draw blood, isolate lymphocytes, dna and rna. the investigators will test the influence of rs9557195 genotype (tt or cc allel), inflammatory activity and current treatment (infliximab vs. vedolizumab) on expression and activity of ebi2 on blood lymphocytes (by facs using an ebi2-antibody), mrna expression (by qpcr) of ebi2 and ubac2 (located on the opposite dna strand of ebi2) and activity of lymphocytes on a migration assay.

Eligibility criteria:
inclusion criteria: * patient with ibd or healthy volunteer * no major uncontrolled medical/ surgical/ psychiatric condition requiring ongoing management besides ibd in the respective study groups. well controlled conditions (i.e. medically controlled arterial hypertension, occupational asthma) may be present exclusion criteria: none

Keywords: ibd ebi2 g protein coupled receptor facs ubac2 lymphocyte migration single nucleotide polymorphism
metformin for weight loss in schizophrenia

Conditions: Schizophrenia; Obesity

Summary: study hypothesis is that patients on antipsychotics medication treated with metformin will show loss in weight and improved measures of glucose metabolism.

patients who had gained more than 10 lbs of weight in the last 3 months or had bmi of 35 or greater were treated with metformin up to 2500 mg/day in an open label study of up to 3 months time. changes in weight and glucose measures were recorded.

Eligibility criteria:
inclusion criteria: * patients will be 18-70 years of age; * currently hospitalized or an outpatient at mpc; * bmi ≥ 35 or excessive recent weight gain ( \> than 10 lb weight gain in the past 3 months); * patients will have a diagnosis of schizophrenia or schizoaffective disorder or bipolar disorder. exclusion criteria: * age below 18 or over 70; * patient is currently already treated with metformin.

Keywords: schizophrenia antipsychotics obesity diabetes
a study to investigate the efficacy and safety of zx008 (fenfluramine hydrochloride) as an adjunctive therapy in children and adults with lennox-gastaut syndrome

Conditions: Lennox Gastaut Syndrome

Summary: this is a two-part, multicenter, double-blind, parallel-group, placebo controlled study to evaluate the effect of zx008 when used as adjunctive therapy for the treatment of uncontrolled seizures in children and adults with lennox-gastaut syndrome (lgs).


Eligibility criteria:
key inclusion criteria: * male or non-pregnant, non-lactating female, age 2 to 35 years, inclusive as of the day of the screening visit. * clinical diagnosis of lennox-gastaut syndrome, where seizures that result in drops are not completely controlled by current antiepileptic treatments. * onset of seizures at 11 years of age or younger. * abnormal cognitive development. * must be receiving at least 1 concomitant aed and up to 4 concomitant anti-epileptic treatments. key exclusion criteria: * etiology of seizures is a degenerative neurological disease. * history of hemiclonic seizures in the first year of life. * subject only has drop seizures in clusters, where individual seizures cannot be counted reliably. * pulmonary arterial hypertension. * current or past history of cardiovascular or cerebrovascular disease, such as cardiac valvulopathy, myocardial infarction or stroke. * receiving concomitant therapy with: centrally-acting anorectic agents; monoamineoxidase inhibitors; any centrally-acting compound with clinically appreciable amount of serotonin agonist or antagonist properties, including serotonin reuptake inhibition; atomoxetine, or other centrally-acting noradrenergic agonist; cyproheptadine. * taking felbamate for less than 1 year prior to screening and/or does not have stable liver function and hematology laboratory tests, and/or the dose has not been stable for at least 60 days prior to the screening visit. * currently receiving an investigational product. * institutionalized in a general nursing home (ie, in a facility that does not specialize in epilepsy care). * a clinically significant condition, or has had clinically relevant symptoms or a clinically significant illness in the 4 weeks prior to the screening visit, other than epilepsy, that would negatively impact study participation, collection of study data, or pose a risk to the subject.

Keywords: lgs
developing an integrated model for home visitation

Conditions: Depressive Symptoms

Summary: perinatal depression is a significant concern, particularly for low-income women. many cases of perinatal depression are complicated by comorbidities such as post-traumatic stress disorder symptoms, anxiety, and intimate partner violence. providing perinatal mental health services to women in home visiting programs could have considerable public health significance. this study will develop and test an integrated model of mental health services embedded within home visitation (hv) programs. this model will (1) incorporate a protocol for systematic screening and referral; (2) strengthen formal linkages between hv programs and other components of service systems; (3) promote the capacity of service systems to provide evidence-based early intervention and treatment for depression; and (4) facilitate the receipt of early intervention and treatment services for perinatal depression and comorbid conditions. this will be the first model to our knowledge that systematically integrates screening, referral, and early intervention and treatment for perinatal depression and associated comorbidities within hv programs. the specific aims are: 1. to develop an integrated model of perinatal depression care within hv programs. this integrated model ("script") will incorporate screening, referral, and individualized prevention and treatment services. 2. to assess the feasibility of implementing the script model with high fidelity in two hv programs. one hv program-drum healthy families-will use paraprofessionals as interventionists while the other program-m\&i nursing-will use nurses and social workers as interventionists. 3. to determine the impact of the script model on depressive symptoms and major depressive episodes.


Eligibility criteria:
inclusion criteria: * pregnant or child \< 6 months * enrolled in baltimore city home visiting program
ribociclib vs. palbociclib in patients with advanced breast cancer within the her2-enriched intrinsic subtype

Conditions: Metastatic Breast Cancer

Summary: harmonia is an international, multicenter, randomized, open-label and phase iii study. the primary objective of this study is to demonstrate that the combination of ribociclib with endocrine therapy (letrozole or fulvestrant) is superior to palbociclib with endocrine therapy (letrozole or fulvestrant) in prolonging progression-free survival in patients with advanced hr+/her2- and her2-e breast cancer. the study will enroll approximately 456 patients with her2-e disease from approximately 95 sites worldwide. in addition, the harmonia trial will include an exploratory cohort of patients with hr+/her2- and basal-like disease treated with paclitaxel +/- tislelizumab. this cohort does not have a predefined sample size and the objective is only exploratory, given the suggested lack of efficacy of the combinations of hormone therapy and cdk4/6 inhibitors in this subgroup of patients. enrolment into the basal-like cohort will stop once the her2-e disease cohort is fully enrolled.


Eligibility criteria:
main inclusion criteria: * histologically documented hr-positive and her2-negative breast cancer by local testing * eastern cooperative oncology group (ecog) performance status of 0 to 1. * advanced (loco regionally recurrent not amenable to curative therapy or metastatic) breast cancer. * availability of ffpe tumor block for biomarker analysis, obtained during metastatic period. * her2-e or basal-like subtype as per central pam50 analysis. * measurable disease or non-measurable disease, as defined by recist v1.1 * adequate hematologic and end-organ function * patient must be willing and able to comply with scheduled visits, treatment plans, laboratory tests, and other trial procedures. * women of childbearing potential must have confirmed negative serum pregnancy test within 7 days prior to randomization. * women of cbp must be willing to use highly effective methods of contraception. * patient must have a 6-lead or 12-lead ecg with all of the following parameters at screening: * qtcf interval (qt interval using fridericia's correction) at screening \< 450 msec. * resting heart rate 50-90 beats per minute (determined from the ecg). main exclusion criteria: * prior therapy with any cdk4/6 inhibitors. * patient has received prior treatment with chemotherapy for advanced/metastatic breast cancer

Keywords: pam50 intrinsic subtype her2-enriched
changes in cardiac structure and function after establishment of autologous arteriovenous fistula

Conditions: End Stage Renal Disease; Arteriovenous Fistula

Summary: this study is a retrospective cohort study aimed at evaluating the impact of autologous arteriovenous fistula (avf) on the heart, especially the left atrial structure, in patients with end-stage renal disease (esrd) through a retrospective cohort study. the aim is to further clarify the relationship between the establishment of avf and the occurrence of atrial fibrillation, and provide a theoretical basis for exploring the relevant mechanisms of avf induced atrial fibrillation in the future.

1. retrospective collection of esrd patients who visited the department of nephrology at the first affiliated hospital of shandong first medical university (qianfoshan hospital, shandong province) from january 2014 to december 2022 for hemodialysis using avf and tunnel cuffed catheter (tcc) with a tunnel and polyester sheath. follow up comparison of the incidence of atrial fibrillation between the two groups; 2. collect general clinical data (gender, age, primary disease, history, etc.), echocardiography (atrioventricular diameter, wall thickness, left ventricular ejection fraction, pulmonary artery pressure, etc.), and biochemical indicators (albumin, total bilirubin, alanine aminotransferase, aspartate aminotransferase, blood urea nitrogen, blood creatinine, blood calcium, blood phosphorus, hemoglobin, etc.) of avf patients, analyze the changes in the structure of the heart, especially the left atrium, before and after the establishment of avf, and use binary logistic regression to analyze the risk factors for new onset atrial fibrillation after avf surgery; 3. according to whether new atrial fibrillation occurred after avf surgery, patients were divided into atrial fibrillation group and non atrial fibrillation group. the occurrence of adverse clinical outcomes was followed up, and the kaplan meier survival curve was used to analyze the impact of atrial fibrillation on patient adverse clinical outcomes. cox regression analysis was used to explore independent risk factors for adverse clinical outcomes. follow up: follow up will be conducted by a dedicated doctor from the establishment of avf to august 31, 2023. the main endpoint events are defined as all-cause death and cardiogenic death, while the secondary endpoint events are readmission due to heart failure and stroke; during the follow-up period, patients who underwent kidney transplantation, changed dialysis methods, and did not experience endpoint events at the end of the follow-up were defined as missing data.

Eligibility criteria:
inclusion criteria: * ① meets the diagnostic criteria for chronic kidney disease; ② age ≥ 18 years old; ③ regular dialysis patients; ④ using avf or tcc as the sole vascular pathway. exclusion criteria: * ① irregular dialysis patients; ② high output states such as hyperthyroidism; ③ basic heart diseases (cardiomyopathy, severe valvular disease, intracardiac shunting, constrictive pericarditis, post heart transplant, etc.)

Keywords: esrd avf mhd af echocardiogram
optical coherence tomography angiography in myopic patients

Conditions: Myopia

Summary: the aim of this study is to investigate the macular microvascular network alterations in high myopic eyes using optical coherence tomography angiography.

high myopia is defined as a refractive error equal to or more than -6 d, and/or axial length equal to or more than 25.5 mm².axial elongation of the globe and subsequent stretch of the retina leads to sight threatening complications. quantitative measurements of retinal vasculature in the healthy eye have been reported using several in vivo and in vitro techniques, including confocal microscopy, fluorescein angiography (fa), and swept-source optical coherence tomography (ssoct) angiography. the aim of this study is to investigate the macular microvascular network alterations in high myopic eyes using optical coherence tomography angiography. this cross-sectional prospective study included 75 eyes of 54 patients, they were recruited from the outpatient clinic of ophthalmology department of el-minia university hospital.they were divided into two groups, group a included 25 normal eyes of 25 patients. group b included 50 myopic eyes of 30 patients. all patients subjected to history taking and full ophthalmological examination in addition to axial length measurment before performing octa.

Eligibility criteria:
inclusion criteria: * • highly myopic subjects, defined as those with spherical equivalents (ses) of -6 or more, with axial length greater than 26.5 mm. group b individuals were chosen among healthy age-matched controls. exclusion criteria: * • patients younger than 18 years old, or older than 45 years. * any patient with macular pathology (e.g. diabetic retinopathy, hypertensive retinopathy, dystrophy) * myopic patients with any vitro-retinal abnormalities (e.g. choroidal neovascular membrane (cnvm), foveoschisis,macular hole) * patients who underwent previous intra ocular surgical procedures. * patients with previous history of intraocular injections. * glaucomatous patients. exclusion criteria to the images that has been captured: * - low signal strength index (less than 50). * - presence of blink artefacts. * - poor fixation leading to motion or doubling artefacts. * - media opacity obscuring view of the vasculature. * - segmentation error due to cystoid macular oedema or epi-retinal membrane, among others.

Keywords: optical coherence tomography angiography myopia
indoleamine 2,3-dioxygenase (ido) inhibitor in advanced solid tumors

Conditions: Solid Tumor

Summary: this is an open-label phase i study to evaluate the safety, tolerability, and pharmacokinetics of escalating oral doses of gdc-0919, an investigational agent intended to inhibit the indoleamine 2,3-dioxygenase 1 (ido1) enzyme and help the human immune system attack solid tumor cells more effectively.


Eligibility criteria:
inclusion criteria: * histologically or cytologically confirmed solid tumor that is relapsed/refractory to standard therapies or for which no approved or curative therapy exists * age \> or = 18 * eastern cooperative oncology group (ecog) performance status \< 2 * life expectancy \> or = 12 weeks * adequate hematologic and organ function before initiation of gdc-0919 * for some patients only: accessible lesions amenable to paired fresh tumor biopsies exclusion criteria: * some prior cancer immunotherapies * untreated brain metastases * active or history of autoimmune disease
study to investigate the efficacy and safety of sofosbuvir/velpatasvir (sof/vel) fixed-dose combination (fdc) and sofosbuvir/velpatasvir/voxilaprevir (sof/vel/vox ) fdc for 12 weeks in adults with chronic hepatitis c virus (hcv) infection

Conditions: Hepatitis C Virus Infection

Summary: the primary objectives of this study are to evaluate the antiviral efficacy, safety, and tolerability of therapy with sofosbuvir/velpatasvir (sof/vel) fixed-dose combination (fdc) and sofosbuvir/velpatasvir/voxilaprevir (sof/vel/vox ) fdc in participants with chronic hcv infection.


Eligibility criteria:
key inclusion criteria: * chronic hcv infected males and non-pregnant/non-lactating females * treatment-naive or treatment-experienced individuals * non-cirrhosis or compensated cirrhosis at screening note: other protocol defined inclusion/exclusion criteria may apply.
deep brain stimulation for morbid obesity

Conditions: Obesity; Obesity, Morbid

Summary: this is an open-label, phase i pilot trial designed to evaluate the safety and feasibility of deep brain stimulation (dbs) for the treatment of refractory morbid obesity. patients with diagnoses of morbid obesity will be recruited and enrolled. all patients will receive dbs targeting two brains areas involved in the pathophysiology of obesity and will be followed post-operatively for 12 months.

this study will establish 1)the safety of deep brain stimulation (dbs) in a patient population with treatment refractory morbid obesity. dbs has been used safely and effectively in thousands of patients for numerous disorders. recent evidence (outlined above) has shown that dbs can also be used to manage refractory psychiatric conditions, such as depression and obsessive-compulsive disorder, as well as in eating disorders such as anorexia nervosa. such studies indicate that a targeted therapy informed by the neuroanatomic and circuitry literature can be effective in altering pathological mood and behaviour. 2) evaluate the effectiveness of the procedure, which will be evaluated by the actual weight loss and resolution of the core symptoms of morbid obesity, including bmi, as well of, depression, self-esteem, and binge eating scores surrounding with loss or weight gain.

Eligibility criteria:
inclusion criteria: 1. female or male patients between age 20-60 2. diagnosis of morbid obesity (defined as a bmi\>40kg/m2 or bmi\>35 with 1 obesity related comorbidity) or a diagnosis of binge eating disorder not responsive to recommended treatments (as defined by the dsm-5) 3. failure or non eligibility of bariatric surgery with \ 35 kg/m2, at 18 months or more after the operation; or diagnosis of binge eating disorder for over 18 months 4. diagnosis of food dependence via yale food addiction scale (yfas) criteria 5. normal neurological exam 6. normal head ct scan and cerebral mri 7. patient informed and able to give written consent 8. able to comply with all testing, follow-ups and study appointments and protocols exclusion criteria: 1. active neurologic disease such as epilepsy 2. alcohol or substance dependence or abuse in the last 6 months, excluding caffeine and nicotine 3. any contraindication to magnetic resonance imaging (mri) or positron emission tomography (pet) scanning 4. likely to relocate or move during the study's one year duration 5. presence of cardiac arrhythmias, or other cardiac, respiratory, renal or endocrine conditions as a result of morbid obesity, that will result in significant risk from a surgical procedure. 6. presence of epilepsy, stroke or degenerative disorder of the nervous system 7. pregnancy

Keywords: deep brain stimulation functional neurosurgery neuromodulation bariatrics weight loss addiction
studies of families with hereditary cataracts

Conditions: Cataract; Congenital Anomaly

Summary: the objective of this study is to discover the genes responsible for the development of hereditary cataracts in families. a cataract is clouding of the lens of the eye that obstructs the passage of light and may impair vision. information from this study may provide a better understanding of why hereditary cataracts form and perhaps lead to the development of a test that can predict who will likely be affected and to what degree. patients or family members of patients with inherited cataracts who participate in this study will be asked questions about their family history, especially concerning eye disease or cataracts, and a family tree will be drawn. they will undergo a complete eye examination, including photographs to document the clarity or opacity of the lens. in addition, a small blood sample will be drawn for use in gene mapping studies of inherited cataract.

although the etiology of some secondary cataracts is becoming better understood and certain animal models have the promise to elucidate the relationships between lens crystallin and hereditary cataract, little is known about the causes of congenital cataracts in humans. even the classification of different types of cataracts is cumbersome and imperfect. a better understanding of cataractogenesis will come through an understanding of the molecular components of the lens of the eye and the ways in which lesions of these components are manifested structurally and functionally as opacity of the lens. it is well known that cataracts exhibit marked genetic heterogeneity. in mice and humans, hereditary cataracts have been shown to result from lesions at many distinct loci and those cataracts corresponding to one locus can be morphologically heterogeneous, implying that environmental factors may modify the phenotype of the cataract which a molecular lesion causes. nonetheless, molecular biological characterization of cataracts in the mouse and guinea pig has suggested that alterations in lens crystallins can cause hereditary cataracts making them reasonable candidate genes for causing hereditary cataracts in humans. in addition, it is apparent that hereditary lesions which mimic or contribute additively to environmental stresses known to cause cataracts might be candidate genes for causing hereditary cataracts. this knowledge increases the feasibility of genetic linkage studies and provides a rationale basis on which to begin the molecular analysis of naturally occurring hereditary cataracts. therefore, it is the purpose of this protocol to concentrate upon hereditary cataracts.

Eligibility criteria:
the proband must have documentation of congenital or hereditary cataract. patients with cataract due to radiation, steroid, or associated with other ocular diseases such as uveitis, retinitis pigmentosa etc. and age-related cataracts will be excluded.

Keywords: linkage genetic analysis lens opacity inherited linkage analysis genomic dna risk prediction pedigree analysis congenital cataracts hereditary cataracts
the role of corticosteroids and vestibular exercises in recovery of vestibular neuritis

Conditions: Vestibular Neuritis

Summary: aim of present study is to determine whether corticosteroids and vestibular exercises are equal effective in the recovery of balance in patients with acute vestibular neuritis.


Eligibility criteria:
inclusion criteria: * patients with history of acute or sub-acute rotatory vertigo with postural imbalance, nausea and imbalance. * horizontal-rotatory spontaneous nystagmus. exclusion criteria: * history of vestibular disfunction before the acute onset of symptoms * simultaneous hearing loss * neurologic disorder * pregnancy or lactation * history of psychiatric disorders * history of glaucoma * diabetes * hypertension * contraindication in receiving corticosteroids