Kornimate/medical-research-clean huggingface dataset:
familial and functional study of genetic variants identified in people with schizophrenia, bipolar disorder, autism spectrum disorder or resistant depression

Conditions: Psychiatric Disorder

Summary: genetic analyses conducted on patient with psychiatric disorders assessed at the expert centres resulted in the identific action of genetic variants associated with psychiatric disorders (courtois, 2020). these data require further genetic and functional analyses. the first objective of this study is to investigate the disease-related inheritance of genetic variants in the families of individuals in whom these variants have been identified. the second objective is to explore the functional consequences of disease-associated genetic variants in patients cells and those of their relatives with and without these variants. the present project aims to enrich existing biocollections with dna from blood or saliva from relatives of patients identified with genetic variants. in addition, we wish to collect hair follicules from patients with identified genetic variants of interest and their family members who wish to participate in the study. these hair samples with sna will be used to dedifferentiate the isolated cells into induced pluripotent stem cells (ipscs), and then to differentiate them into cells expressing the gene of interest, such as neurons or astrocytes, or into more complex systems, such as brain organoids.


Eligibility criteria:
inclusion criteria: * for patients: * subjects suffering from (according to dsm iv criteria) : bipolar disorder, unipolar depression, schizophrenia, autism spectrum disorder * age over 18 years * subject affiliated to the social security system * including patients under guardianship, curatorship, * patients included in the fondation fondamental cohort whose genetic analyses have revealed the need for comparative and functional genetic studies. * having signed the consent form for relatives : * age over 18 years * relative of patient included in the fondattion fondamental cohort * including relative under guardianship, curatorship * having signed the consent * affiliated to social security exclusion criteria: * for all subjects: * any condition that, in the opinion of the investigator, would make the subject's participation in the study undesirable or that would compromise compliance with the protocol * persons deprived of liberty * inability to understand french
haic plus sorafenib versus tace plus sorafenibfor advanced hcc

Conditions: Hepatocellular Carcinoma

Summary: the purpose of this study is to evaluate the efficacy and safety of hepatic arterial infusion chemotherapy (haic) compared with transarterial chemoembolization (tace) in patients with bclc stage hepatocellular carcinoma (hcc).

transarterial chemoembolization (tace) is the most widely used palliative treatment for hepatocellular carcinoma (hcc) patients. our previous prospective study also revealed that tace confers a survival benefit to patients with hcc and portal venous tumor thrombus (pvtt). recently, the results of our preliminary pilot study suggested that, compared with tace, hepatic arterial infusion chemotherapy (haic) may improve the survivals for patitens with bclc stage c hcc. thus, the investigators carried out this prospective randomized control study to find out it.

Eligibility criteria:
inclusion criteria: * the diagnosis of bclc c stage hcc was based on the diagnostic criteria for hcc used by the european association for the study of the liver (easl) * patients must have at least one tumor lesion that can be accurately measured according to easl criteria. * with no previous treatment * no cirrhosis or cirrhotic status of child-pugh class a only * not amendable to surgical resection ,local ablative therapy and any other cured treatment. * the following laboratory parameters: * platelet count ≥ 75,000/µl * hemoglobin ≥ 8.5 g/dl * total bilirubin ≤ 30mmol/l * serum albumin ≥ 30 g/l * asl and ast ≤ 5 x upper limit of normal * serum creatinine ≤ 1.5 x upper limit of normal * inr ≤ 1.5 or pt/aptt within normal limits * absolute neutrophil count (anc) \>1,500/mm3 * ability to understand the protocol and to agree to and sign a written informed consent document exclusion criteria: * main portal vein occlusion * evidence of hepatic decompensation including ascites, gastrointestinal bleeding or hepatic encephalopathy * known history of hiv * history of organ allograft * known or suspected allergy to the investigational agents or any agent given in association with this trial. * cardiac ventricular arrhythmias requiring anti-arrhythmic therapy * evidence of bleeding diathesis. * patients with clinically significant gastrointestinal bleeding within 30 days prior to study entry. * any other hemorrhage/bleeding event \> ctcae grade 3 within 4 weeks of first dose of study drug * serious non-healing wound, ulcer, or bone fracture * known central nervous system tumors including metastatic brain disease

Keywords: hepatic arterial infusion chemotherapy transarterial chemoembolization
autologous bone marrow derived mononuclear cells in treating diabetic patients with critical limb ischemia

Conditions: Peripheral Vascular Diseases; Diabetic Foot

Summary: the aim of this study is to assess the efficacy and safety of autologous transplantation of bone-marrow cells for therapeutic angiogenesis and vasculogenesis in diabetic patients with non-revascularizable critical limb ischemia.

phase i/ii, prospective, single-center study, with consecutive inclusion of 20 diabetic patients with critical limb ischemia due to bellow-the-knee extensive arterial disease. after the inclusion, patients are submitted to a bone-marrow aspiration (30 ml) under sedation. autologous bone-marrow mononuclear cells (minimum 80 millions mononuclear cells) are infused intraarterially at popliteal artery by blocking antegrade perfusion during 3 minutes. clinical and angiographic follow-up will be performed at 3 months after the infusion to assess the efficacy of autologous mononuclear cells transplantation in terms of: * changes in below-the-knee angiography from baseline to 3 months follow-up. * changes in ankle-brachial pressure index, transcutaneous oxygen pressure, and size of main ischemic ulcer will be also assessed at target limb.

Eligibility criteria:
inclusion criteria: * diabetic patients under treatment (type i or ii) * critical limb ischemia (rest pain and/or non-healing ischemic ulcers lasting more than 4 weeks, and/or ankle-brachial index \< 0,8) * not suitable to be revascularized (surgical and interventional consensus) exclusion criteria: * neoplastic disease and/or hematologic disease during the last 2 years * diabetic retinopathy * ischemic ulcer greater than 10 cm2 * major amputation at target limb * life expectancy \> 2 years

Keywords: diabetes complications lower limb ischemia adult stem cells
haic in combination with pd-1 inhibitors and lenvatinib for high tumor burden advanced hcc (chance2416)

Conditions: HCC - Hepatocellular Carcinoma; Hepatic Arterial Infusion Chemotherapy; BCLC Stage C Hepatocellular Carcinoma; Lenvatinib; PD-1 Inhibitors

Summary: the purpose of this study is to evaluate the safety and efficacy of hepatic arterial infusion chemotherapy (haic) in combination with pd-1 inhibitors and lenvatinib in patients with high tumor burden advanced-stage hepatocellular carcinoma (hcc) with portal vein tumor thrombus (pvtt).


Eligibility criteria:
inclusion criteria: 1. age 18 to 80 years old; 2. diagnosis of hcc was confirmed by histologic or cytologic analysis or clinical features according to the american association for the study of liver diseases (aasld) guideline; 3. at least one measurable intrahepatic lesion as per the recist 1.1 criteria; 4. hcc staging of the patients are consistent with both the bclc stage c and the cnlc stage iiia. 5. presence of pvtt; 6. patients received a first-line lenvatinib+pd-1 (l+p) inhibitors combination or that of haic+lenvatinib+pd-1 inhibitors (h+l+p). more specifically, the administration of lenvatinib was concomitant with pd-1 inhibitors, and haic was performed either concurrently with, or up to 2 months before or after the l+p inhibitors combination therapy. patients in the h+l+p group should undergo at least 2 cycles of haic, receive at least 2 cycles of pd-1 inhibiors and take at least 2 months of lenvatinib. patients in the l+p group should receive at least 2 cycles of pd-1 inhibiors, and take at least 2 months of lenvatinib. 7. child-pugh class a or b7; 8. tumor burden meets up to 7 out criteria. exclusion criteria: 1. patients who took anti-tumor treatments before the combination therapy; 2. with other malignant tumors; 3. incomplete data.
facilitating adolescent self-change for alcohol problems

Conditions: Underage Drinking

Summary: this present multi-site investigation compares a voluntary brief intervention for adolescent alcohol problems to an educational comparison condition. measures are taken at intake and at 4 and 12 weeks post intake to determine effectiveness of the intervention to promote personal change efforts and arrest progression of alcohol problems. this study tests cognitive mechanisms of change and treatment characteristics and processes associated with youth self-regulation to reduce or stop hazardous drinking.


Eligibility criteria:
inclusion criteria: * all 9th-12th graders at six schools from 3 sites across the country are eligible to participate, regardless of alcohol experience exclusion criteria: * exclusion prior to 9th grade and after 12th grade
disulfiram combined with lorazepam for alcohol dependence and anxiety disorder

Conditions: Alcohol Dependence; Anxiety Disorder

Summary: the proposed design is a single-group open-label trial. qualified consenting participants with active alcohol dependence and primary or secondary anxiety disorder will receive monitored disulfiram and lorazepam, in the context of a structured medication management (mm) model. in weeks 9-15 lorazepam is tapered, and disulfiram is stopped at the end of week 16. participants who achieve 4 weeks abstinence and meet criteria for a primary anxiety disorder or mood disorder may receive ancillary medication consisting fda-approved non-benzodiazepine treatment, with specific options for each disorder described in the protocol. participants requiring continued treatment are referred to clinical treatment in the community at week 16, and bridging prescriptions of anxiolytic/antidepressant medication may be provided. a final follow-up assessment occurs at week 28. the primary outcomes are percent days abstinent (pda) and retention in treatment. secondary alcohol outcomes are consequences, drinks per drinking day, remission status, and time to first heavy drinking day. anxiety outcomes are hamilton anxiety scale scores and anxiety disorder diagnosis.


Eligibility criteria:
inclusion criteria: * males and females age 18 and over with alcohol dependence. * able to provide voluntary informed consent. * at least 4 heavy drinking days in the past 30 days. * primary or secondary anxiety disorder, including diagnoses of generalized anxiety disorder, panic disorder, social phobia, ptsd, obsessive-compulsive disorder, alcohol-induced anxiety disorder, or anxiety disorder not otherwise specified, ascertained by the scid. * goal of abstinence. * 2 days abstinence at the time of study entry (did not drink yesterday or today). * willing to come to clinic 3x/week. * if female of child-bearing potential, willing to use approved method of contraception. exclusion criteria: * moderate or severe withdrawal (ciwa-a greater than 15), history of withdrawal seizures or delirium tremens. * medical conditions (seizure disorder, sleep apnea, significantly impaired liver function, chronic or acute nephritis, symptomatic coronary artery disease, acute narrow-angle glaucoma). * urine drug screen positive for opioids or barbiturates. * hypersensitivity to thiuram derivatives. * pregnancy. * laboratory abnormalities (any lft greater than 3 times normal, ecg evidence of ischemia, ua suggestive of nephritis, serious abnormalities of cbc). * need to take excluded medication (e.g. amprenavir oral solution, diazoxide oral suspension, isoniazid, lopinavir/ritonavir oral solution, metronidazole, omeprazole, phenytoins, ritonavir, tinidazole, tipranavir, warfarin, azelastine, sodium oxybate). * psychiatric conditions (schizophrenia, schizoaffective disorder, bipolar disorder; opioid dependence, benzodiazepine or other sedative hypnotic dependence).

Keywords: alcohol dependence alcoholism anxiety disorder pharmacotherapy disulfiram lorazepam
a trial investigating the concentration in the blood of nn1250 in children, adolescents and adults with type 1 diabetes

Conditions: Diabetes; Diabetes Mellitus, Type 1

Summary: this trial was conducted in europe. the aim of this clinical trial was to look into the concentration of nn1250 (insulin degludec/insulin 454) in the blood after one injection of nn1250 in children, adolescents and adults with type 1 diabetes.


Eligibility criteria:
inclusion criteria: * male or female aged 6-65 years (both inclusive) * type 1 diabetes mellitus (as diagnosed clinically) for at least 12 months * body mass index for children: 15.0-20.0 kg/m\^2 (both inclusive), for adolescents: 18.0-28.0 kg/m\^2 (both inclusive) and for adults maximum 30.0 kg/m\^2 exclusion criteria: * subject who has donated any blood or plasma in the past month or more than 500 ml within 3 months prior to screening * not able or willing to refrain from smoking during the inpatient period * female of childbearing potential who is pregnant, breast-feeding or intends to become pregnant or is not using adequate contraceptive methods
efficacy at 24 weeks and long term safety, tolerability and efficacy up to 2 years of secukinumab (ain457) in patients with active psoriatic arthritis (psa)

Conditions: Psoriatic Arthritis

Summary: this study will assess the efficacy and safety of secukinumab in patients with active psoriatic arthritis who are intolerant to or have had an inadequate response to nsaids, dmards and / or tnfα inhibitor therapy.


Eligibility criteria:
inclusion criteria: * male or non-pregnant, non-lactating female patients at least 18 years of age * diagnosis of psa classified by caspar criteria and with symptoms for at least 6 months with moderate to severe psa who must have at baseline ≥3 tender joints out of 78 and ≥3 swollen out of 76 (dactylitis of a digit counts as one joint each) * rheumatoid factor and anti-ccp antibodies negative * diagnosis of active plaque psoriasis, with at least one psoriatic plaque of ≥2cm diameter or nail changes consistent with psoriasis or documented history o plaque psoriasis exclusion criteria: * chest x-ray with evidence of ongoing infectious or malignant process * subjects who have previously been treated with more than 3 different tnfα inhibitors * subjects taking high potency opioid analgesics * subjects who have ever received biologic immunomodulating agents except for those targeting tnfα other protocol-defined inclusion/exclusion criteria may apply

Keywords: psoriatic arthritis psa acr caspar
role of intermittent islamic fasting in management of metabolic syndrome

Conditions: Intermittent Islamic Fasting in Metabolic Syndrome

Summary: metabolic syndrome doubles the risk of developing cardiovascular diseases and type 2 diabetes mellitus. intermittent islamic fasting is an effective health strategy associated with various benefits. objectives: to compare effect of intermittent islamic fasting with lifestyle modification versus lifestyle modification only on weight management, blood pressure, blood glucose and lipid profile among a group of metabolic syndrome patients.

metabolic syndrome (mets), also called "syndrome x" or "insulin resistance syndrome," describes a common condition characterized by high blood pressure, elevated triglycerides, central obesity, and low hdl cholesterol levels . having metabolic syndrome doubles the risk of developing cardiovascular diseases and type 2 diabetes mellitus. the prevalence of metabolic syndrome (mets) is globally increasing due to the widespread adoption of the western lifestyle . between 2011 and 2018, the prevalence of metabolic syndrome (mets) in the usa significantly increased from 37.6% in 2011-2012 to 41.8% in 2017-2018. this trend may be indicative of the rising epidemic of type 2 diabetes there . in egypt, an estimated 10.9 million people currently have diabetes. this number is projected to rise to 13 million by 2030 and to 20 million by 2045.our aim to compare effect of intermittent islamic fasting with lifestyle modification versus lifestyle modification only on weight management, blood pressure, blood glucose and lipid profile among a group of metabolic syndrome patients. a randomized control open label trial was conducted on with metabolic syndrome, their ages range from (30- 45 years) attending the clinical nutrition outpatient clinic in the zagazig university hospital from 1st of august (2023) to the end of february (2024) using consort guidelines and flow chart were used in this study including 54 patients with metabolic syndrome. at first, a sample was picked by systematic random technique from patients attending clinical nutrition outpatient clinic of zagazig university hospital then by block randomization, according to sex and bmi, the sample was classified randomly according to intervention type by block randomization using sealed envelope website into 6 blocks each block size 9 list length with allocation ratio 1:1, study was open -label . the sample was divided into two groups (intervention group and control group). 1. group i: intervention group (27 patients) followed islamic fasting with lifestyle modification; (islamic fasting means: fasting two days per week (monday and thursday) with fasting (13, 14, 15) middle of lunar months). 2. group ii: control group (27 patients) followed lifestyle modification only.

Eligibility criteria:
inclusion criteria: * adults with metabolic syndrome * adults (30-45years old) * providing a consent. exclusion criteria: * had any chronic diseases * pregnant females.

Keywords: intermittent islamic fasting, lifestyle modification and metabolic syndrome
modulation of circulating levels of the ketone body 3-hydroxybutyrate in patients with chronic heart failure: cardiovascular effects

Conditions: Heart Failure; Ketosis; Ketonemia

Summary: the ketone body 3-hydroxybutyrate (3-ohb) is a naturally occurring energy substrate, and is associated with increased life span and improved health. we have previously shown that intravenous 3-ohb treatment increases myocardial blood flow \> 70% in healthy humans and data from our group show that 3-ohb increases cardiac output by 40 % in patients with heart failure. in this study the investigators aim to investigate: 1. if this effect is reproducible with a commercially available oral ketone supplements 2. the safety of commercially available ketone supplements in heart failure patients

heart failure (hf) is a major public health issue because the disease affects 1-2% of the western population and the lifetime risk of hf is 20%. hf is responsible for 1-2% of all healthcare expenditures. despite major improvements in the management and care of patients with hf, the 1-year mortality in patients with hf is 13 % and \>50% of hf-patients is admitted during a 2.5 year period. furthermore patients with hf have markedly decreased physical capacity and quality of life. thus, there is a need for new treatment modalities in this group of patients. ketone bodies are produced in the liver and are of vital importance in the human body for energy generation in the heart and brain during fasting, exercise and severe illness. ketosis can be safely obtained using dietary supplements and can increase exercise capacity in athletes. the most important ketone bodies are 3-hydroxybutyrate (3-ohb) and acetoacetate. recently, it was demonstrated that patients with severe hf have increased myocardial utilization of the ketone body 3-hydroxybutyrate. we have shown, using positron emission tomography, that ketone body infusion reduces myocardial glucose uptake and increases myocardial blood flow in healthy subjects. data from another study conducted by our group show a 40% increase in cardiac output during infusion of 3-ohb. presently there are no data on the clinical cardiovascular and metabolic effects of long-term oral ketone-supplementation in patients with chronic hf. in this study the investigators will whether ketosis obtained by oral ketone supplements affects hemodynamics and contractile function.

Eligibility criteria:
inclusion criteria: * chronic heart failure; * nyha class ii-iii * left ventricular ejection fraction \<40% exclusion criteria: * diabetes or hba1c \> 48 mmol/mol * significant cardiac valve disease, * severe stable angina pectoris * severe comorbidity as judged by investigator, * inability to give informed consent.

Keywords: metabolism
an observational study of etrasimod in adult patients with moderate to severe ulcerative colitis

Conditions: Colitis, Ulcerative

Summary: the purpose of this observational study is to learn about the effects of etrasimod as a treatment for adult patients with moderate to severe ulcerative colitis. patients will be treated according to standard of care and will only be included in the study if etrasimod is the best treatment of choice according to the physician and they have not previously taken etrasimod. all patients will be prescribed etrasimod according to standard of care. tests and doctor visits will be conducted according to standard of care with the exception of health questionnaires about ulcerative colitis symptoms. these questionnaires will be completed by patients at various timepoints during the study using their mobile phone, tablet, or computer. the study is 52 weeks with 28 days of safety follow up. the effects of etrasimod will be analyzed for each patient comparing their disease activity prior to the start of etrasimod.


Eligibility criteria:
inclusion criteria: 1. age ≥ 18 years and \< 65 years at baseline 2. patients with confirmed diagnosis of uc who are prescribed etrasimod for moderately to severely active uc 3. evidence of a personally signed and dated icd indicating that the patient has been informed of all pertinent aspects of the study exclusion criteria: 1. the presence of clinical findings suggestive of crohn's disease 2. severe extensive colitis evidenced by: 1. physician judgement that the patient is likely to require hospitalization for medical or surgical intervention of any kind for uc (e.g., colectomy) within 12 weeks 2. current evidence of acute severe uc, fulminant colitis, or toxic megacolon 3. patients with a stoma or planned uc surgical intervention requiring hospitalization 4. prior/concomitant therapy: 1. any previous exposure to etrasimod, including participation in the etrasimod clinical program 2. any co-medication with one of the following conventional therapies: methotrexate or a thiopurine (azathioprine, mercaptopurine, or tioguanine) 3. any co-medication with one of the following advanced therapies for uc: biologics (a tnf, integrin or cytokine antagonist; jaki \[filgotinib, tofacitinib, or upadacitinib\]) or with any other s1p receptor modulator 5. unwillingness or inability to download the web-based tool to complete epros on a personal device or not capable of using the web-based tool 6. investigator site staff or pfizer employees directly involved in the conduct of the study, site staff otherwise supervised by the investigator, and their respective family