Kornimate/medical-research-clean huggingface dataset:
molecular targets for the treatment of histiocytosis

Conditions: Histiocytosis

Summary: the primary objective: to develop technical and operating procedures for detection mutations of histiocytosis during clinical practice of no-specialized molecular platforms, for diagnosis and follow-up of the disease. the secondary objectives: to describe therapeutic target mutations in histiocytosis patients, and to develop the cellular tests to evaluate in vitro the sensibility of these mutations drive to inhibitors.

the study is ancillary of the french "gene histio" cohort (patients already included) and "histio target 2020" cohort (patients recruited since may 2020). the data base of the french registry of histiocytoses is held by dr j. donadieu, and localized in trousseau hospital (aphp) 75012 paris, france, where server and backup are kept. 5 teams contributes to the study with different role: team 1 is responsible for histology diagnosis, selection of histiocyte- rich areas, extraction of nucleic acids and detection of the braf p.v600e mutations. this group is also responsible of the tissue and nucleic acids biobank. team 2 is responsible for the collection of clinical data and tissue and blood samples of the children. this group is also responsible of the clinical data base. team 3 is responsible for the collection of clinical data and tissue and blood samples of the adult patients. team 4 is responsible for the development and validation of the new methods of detection of genetic somatic alterations described in project, and will perform most of the molecular analyses and interpretations. team 5 is responsible for regulatory requirements preparation and submissions and takes care of replying to regulatory comments and amendments until getting approvals. the project manager will also take care of the coordination of all activities related to the database setting and utilization, liaising between researchers, doctors and operational team. team 5 will be in charge of the data management of the database and will ensure collection tools, integration and availability of data at appropriate quality. the data manager ensures that data is collected, validated, complete, and consistent, to provide a high quality and comprehensive database to the statistics team. team 5 includes also a statistician who will perform data analysis according to a detailed statistical analysis plan to be developed once the project is approved.

Eligibility criteria:
inclusion criteria: * histologically proven histiocytosis; * informed consent form signed by patients (or parents/legal tutors of children) to participate"gene histio" or "histio target 2020". exclusion criteria: - patient refusal.

Keywords: histiocytosis
effects of siliphos-selenium-methionine-alpha lipoic acid in patients with fatty liver and non-alcoholic steatohepatitis

Conditions: Liver Disease

Summary: non-alcoholic steatohepatitis represents 10 - 15% total cases of hepatic cirrhosis. in the upcoming years, the economic burden of this disease will increase and will mean an important problem for our health system due to obesity epidemic. there are several treatments for non-alcoholic steatohepatitis; however, none of them have overcome a healthy lifestyle including diet, exercise and some drugs related with insulin metabolism. there after, using hepatoprotective drugs and antioxidants have been recommended as an eligible therapy to reduce the progression from fatty liver to steatohepatitis and cirrhosis. being this approach not only an experimental item yet but also an unavoidable reality. the purpose of this randomized controlled study is explore the effects of siliphos-selenium-methionine-alpha lipoic acid + metformin versus metformin in patients with fatty liver and non-alcoholic steatohepatitis about biochemical and echosonographic parameters.


Eligibility criteria:
inclusion criteria: * patients with metabolic syndrome according to atp iii criteria * non smokers * without intake of vitamins or herbal medicine for at least one month * without uncontrolled glycemic levels * compatible ultrasound and/or histological report exclusion criteria: * alcohol ingest \> 50 gr weekly or chronic alcoholism * creatine serum \> 2 mg/dl * potassium serum \> 5.5 meq/l * allergic to metformin or any components of the study * pregnancy * anomalies of blood coagulation or liver anatomic * patients with diseases and/or treatment that cause fatty liver or steatohepatitis * body weight change \> 10% in the last 5 weeks

Keywords: nafld, nash, fatty liver
study evaluating sirolimus in kidney transplant recipients in india

Conditions: Kidney Failure; Graft vs Host Disease

Summary: to determine the safety of sirolimus tablets in renal allograft recipients in a postmarketing surveillance setting.


Eligibility criteria:
inclusion criteria: * patients in end stage renal disease who are above 13 years of age and weigh more than 40 kilograms. * patients scheduled to receive a kidney from a cadaveric donor, from a living unrelated donor or from a living related donor. exclusion criteria: * evidence of major infections at the time of sirolimus administration * use of any investigational drug or treatment up to 4 weeks prior to enrolling in the study and during the treatment phase. * females who are pregnant, breast feeding or in reproductive age group and not using a medically acceptable form of contraception

Keywords: kidney transplant
chronology of occult and gross coagulopathy in burn patients

Conditions: Thermal Burns

Summary: the purpose of the study is to identify the inflammatory and coagulation pathways and mechanisms that are activated immediately following burn injury, and how they affect outcomes in terms of organ failure and death. this study also addresses the limitation of current tests (pt, ptt, and platelet counts) employed to identify coagulation disturbances in severely injured patients both in a comprehensive and rapid manner.


Eligibility criteria:
inclusion criteria: * patients, male or female, \> or = 18 years of age, who arrive at burn/trauma center with anticipated admission to the burn center within 4 hours of injury, with a thermal burn injury due to flash, flame, contact with hot object or liquid. exclusion criteria: * patients suffering concomitant trauma that are in hemorrhagic shock. patients with a preexisting history of coagulopathy, or currently taking anti-coagulants. children and pregnant women. patients with chemical or electrical injury. patients who do not fluently speak either english or spanish.
alpha radiation emitters device for the treatment of cutaneous, mucosal and superficial soft tissue neoplasia (dart)

Conditions: Skin Cancer; Mucosal Neoplasm of Oral Cavity; Soft Tissue Neoplasm

Summary: a unique approach for cancer treatment employing intratumoral diffusing alpha radiation emitter device for superficial cutaneous, mucosal or soft tissue neoplasia

this will be a prospective, open label, single arm, controlled study, assessing the safety and efficacy of diffusing alpha emitters radiation therapy (dart) delivered through radioactive seeds inserted into the tumor. this approach combines the advantages of local intratumoral irradiation of the tumor, as used in conventional brachytherapy, with the power of the alpha radiation emitting atoms, that will be introduced in quantities considerably lower than radiation therapy already used in patients. superficial lesions with histopathological confirmation of malignancy will be treated using dart seeds. reduction in tumor volume and evaluation the percent of necrotic tissue in the tumor 30-45 days after dart seeds insertion (15-30 days after seed removal) will be assessed. safety will be assessed by the cumulative incidence, worst severity and frequency of adverse events (aes) observed including the follow-up period.

Eligibility criteria:
inclusion criteria: * subjects with histopathological confirmation of cutaneous and/or mucosal and/or superficial soft tissue malignant neoplasia. * subjects with a tumor size ≤ 5 centimeters in the longest diameter. * subjects' age is over 18 years old. * subjects' ecog performance status scale is \< 2. * subjects' life expectancy is more than 6 months. * women of childbearing potential (wocbp) will have evidence of negative pregnancy test. * subjects are able and willing to sign an informed consent form. exclusion criteria: * subject has a tumor with a maximal diameter \> 5 centimeters. * subjects' ecog performance status scale is \> 3. * subject has a tumor of keratoacanthoma histology. * patients with moribund diseases, e.g., autoimmune diseases, vasculitis, etc. * patients under systemic immunosuppressive and/or corticosteroid treatment. patients taking corticosteroid inhalers are eligible.

Keywords: squamous cell carcinoma scc skin cancer skin metastasis hnscc carcinoma, squamous cmn basal cell carcinoma superficial sarcoma kaposi sarcoma alpha radiation cutaneous lesion tongue cancer lip cancer
clinical, molecular and electrophysiological profiling of parkinson's disease: the role of non-pharmacological therapies

Conditions: Parkinson Disease

Summary: in parkinson's disease (pd), direct evidence linking inflammation to the harmful activities of alpha-synuclein (a-syn) aggregates, the disease onset, and its progression is still lacking. this translational project aims to reveal the causal relationship between a-syn and inflammation. the investigators will also investigate the mechanisms underlying the beneficial effects of two non-pharmacological approaches, motor exercise and neuromodulation, with particular focus on neuroinflammation and brain-derived neurotrophic factor (bdnf) production. the investigators will investigate the molecular pathways and synaptic alterations underlying disease progression. this will be paralleled by a clinical study, in which clinical assessment will be associated with cerebrospinal fluid (csf) and blood neurodegeneration and inflammatory biomarkers measures. then, the investigators will test the hypothesis that intensive exercise and neuromodulation may reduce neuroinflammation and a-syn spreading via the activation of bdnf-related pathways.


Eligibility criteria:
inclusion criteria: * clinically established diagnosis of pd according to the movement disorders society (mds) diagnostic criteria * hoehn \& yahr (h\&y) stage between 1 and 3 exclusion criteria: * pregnancy * oncological or autoimmune comorbidities
recovery by endovascular salvage for cerebral ultra-acute embolism (rescue)-japan rct

Conditions: Ischemic Stroke

Summary: the aim of this study is to clarify the efficacy of the endovascular treatment for acute ischemic stroke patients with large vessel occlusion and are not respond to intravenous recombinant tissue plasminogen activator (rt-pa) therapy.


Eligibility criteria:
inclusion criteria: * acute ischemic stroke patients who were treated with intravenous rt-pa therapy within 4.5 hours from onset and have persistent occlusion of ic and m1 proximal portion\* confirmed by cerebral angiography. \*: m1 proximal portion means the segment of mca within 5mm from the internal carotid bifurcation. * patients who can receive endovascular treatment within 8 hours after the onset. * patients whose dwi-aspects was 5 points and more, or ct-aspect was 6 points and more just before cerebral angiography. * patients whose nihss is between 8 and 29 points. * patients who are between 20 and 85 years. * gender does not matter. * consent of this study participants must be obtained from patients or legal representative in writing. exclusion criteria: * patients whose neurological symptoms improved and nihss is eight points and less after intravenous rt-pa therapy. * patients whose mrs was 3 points and more before the onset. 3)patients with past history of lumbar puncture or arterial puncture that were difficult of hemostasis. * patients with intracranial tumor * patients with hypersensitivity to contrast agent. * patients with serious renal disease. * patients with malignant tumor. * patients with pregnancy or suspect of pregnancy, or during lactation. * patients with findings of acute myocardial infarction or pericarditis after myocardial infarction. * patients who cannot be followed for 3 months. * patients with past history of cerebral aneurysm, cerebral arteriovenous malformation, cerebral venous thrombosis, or moyamoya disease. * patients with other occlusions besides ica or m1 proximal portion. * patients with aortic dissection complicating endovascular treatment. * patients with tortuous arteries that prevent the navigation of the device to the target vessel. * patients considered inappropriate to participate in the study.
emergent laparoscopic cholecystectomy with icg cholangiography

Conditions: Acute Cholestatic Hepatitis

Summary: a consecutive case series report to share our experience in surgical outcome of patients who underwent emergency laparoscopic cholecystectomy guided by indocyanine green (icg) fluorescence. the patients were recruited in pumch emergency department from 2023 to 2024.

acute calculous cholecystitis, typically occurs in patients with gallstones, accounts for 90 to 95% of acute cholecystitis. emergent laparscopic cholecystectomy (elc) is the major treatment option. traditionally, the time frame for elc is generally considered to be within 72 hours from the onset of symptoms. however, with the development of surgical techniques, nowadays, elc is also considered for patients with symptoms onset within 10 days and hospital stays within 7 days. the determination of the time frame for elc in acute cholecystitis is primarily based on the risk of complications occurring. comparing to delayed laparscopic cholecystectomy (dlc), elc has advantages in post-operative complications in patients with symptoms onset within 72 hours. post-operative complications for both dlc and elc include bile leaks, intestinal obstruction, ascites, intraperitoneal hemorrhage, would bleeding and hematoma, wound infection and calculus remaining. most of them associate with intraoperative procedures. laparoscopic cholecystectomy guided by indocyanine green (icg) fluorescence, comparing to conventional laparscopic procedures, can help the surgeons to identify bile tracts and therefore may reduce the complications. therefore, we conduct this case series report to share our single center experience of surgical outcomes and economic effectiveness of laparoscopic cholecystectomy guided by icg. the surgical outcomes are evaluated by both intraoperative events and postoperative events. intraoperative events contain the following items: (1) incidence of intraoperative accidental bile tract injury, (2) intraoperative bleeding (volume), (3) operation time. postoperative events contain the following items: (1) incidence of complications staging 2 and above according to clavien dindo grade during hospital stay, (2) duration of postoperative hospital stay. the economic effectiveness is evaluated by cost of hospital stay.

Eligibility criteria:
inclusion criteria: * all of the hospitalized patients of underwent emergent laparscopic cholecystectomy guided by icg fluorescence by the emergent surgeon team from 1st august 2023 to 1st feburary 2024 in the department of emergency in peking union medical college hospital exclusion criteria: * patients with incomplete medical records. patients have other emergent conditions which warrant other emergent operations or major treatment simultaneously besides elc.

Keywords: emergent laparscopic cholecystectomy indocyanine green fluorescence surgical outcome economic effectiveness acute cholecystitis
long term follow-up after primary or revision shoulder arthroplasty with a patient- specific glenius implant

Conditions: Arthroplasty, Replacement, Shoulder; Glenoid Cavity; Osteoarthritis of the Shoulder

Summary: this post-market follow-up study investigates improvement in clinical and radiological outcome after reversed total shoulder arthroplasty with the patient-specific glenius glenoid reconstruction system

the glenius glenoid implant is a solution for patients who need a reversed glenoid reconstruction (primary or revision) because of a severely damaged glenoid associated with severe bone loss. in these cases, standard reconstruction of the glenoid is not possible because of the lack of body support of the glenoid rim or columns. the glenius implant is custom-made prothesis: during pre-operative planning, the implant is designed based on a detailed 3d ct analysis of the defect with special reference to bone quality and the anatomy of the bone deficient glenoid. optimized screw fixation trajectories are defined for each individual patient, which accommodate screws that are positioned and angled towards the best bone stock available in the glenoid/coracoid/scapula with each specific patient. the surgeon provides feedback on the the design and orientation of the implant needed to achieve the optimal inclination of the head and the position \& offset of the joint's centre of rotation. because glenius is a relatively new product and only for use in specific and complex cases of severy glenoid erosion, follow-up data on the clinical and radiological outcome are scarce. with this study we aim to collect long-term clinical and radiological follow-up data for patients treated with glenius in a uniform, standardized way.

Eligibility criteria:
inclusion criteria: * patients having primary or revision shoulder joint replacement with severe glenoid bone defects * patient is 18 years of age or older * patient can follow the glenius system procedure that is standard of care * patient is willing to cooperate in the required post-operative therapy * patient has participated in the informed consent process and has signed the ec approved informed consent form exclusion criteria: * pregnant patients * skeletally immature patients * prisoners
malignant hyperthermia registry and genetic testing

Conditions: Malignant Hyperthermia

Summary: the purpose of this study is to to determine the penetrance of known and probable pathogenic variants in genes and the factors that contribute to penetrance in a population of children and adults in the united states exposed to malignant hyperthermia (mh) trigger agents.

the purpose of the study is to determine how genetic mutations and variants in combination with non-genetic factors influence risk for mh in children who had general anesthesia with triggering agents and develop reliable predictive mh risk algorithms. rationale: once the factors responsible for mh risk are determined, it will be possible to better predict risk and develop better individualization of anesthetics such as tailored selection of intravenous anesthetics, regional anesthesia and avoidance of all triggering agents. the long-term goal is to tailor and improve safety of anesthetic and clinical care and to reduce mortality, morbidity and cost of care due to mh with right anesthetics and muscle relaxants for endotracheal intubations for an individual child.

Eligibility criteria:
inclusion criteria: * any english speaking person registered at nahmr who has had a positive clinical manifestation of malignant hyperthermia * any person with a positive caffeine halothane contracture probtest (chct) or a close relative of a person that had these. exclusion criteria: * any person who has not had a positive clinical manifestation of malignant hyperthermia * any person with a positive caffeine halothane contracture test (chct) or not a close relative of a person that had these. non-english speaking registrants will be excluded.

Keywords: malignant genetics ryr1 cac-na1s hyperthermia
associations between pre-transplant comorbidities and post-transplant toxicities and quality of life

Conditions: Hematologic Malignancies; Other Diagnoses, Comorbidities, and Complications

Summary: we are interested in studying whether and how medical problems other than primary cancer before hematopoietic cell transplantation would impact the profiles of quality of life and toxicities post-transplantation for patients with blood cancers. we want to see if by assessing comorbidities (such as diabetes) early on, we can identify those patients who will have more toxicities or limitations in their quality of life after transplant. the generated information could set the stage for future intervention studies aiming to improve quality of life for patients with blood cancers after transplantation.


Eligibility criteria:
inclusion criteria: * allogeneic hct candidates who are \>18 years of age * able to speak and read english * able to provide informed consent * access to a telephone for study-related communications * diagnosed with a hematological malignant disease * willing to complete survey packets at 5 time-points, spanning two years exclusion criteria: * hct candidates who are 18 years or younger at the time of study enrollment * hct candidates who cannot read, write, or speak english * patients with diagnoses of non-malignant diseases, or solid tumors are primary disease

Keywords: quality of life toxicities hematopoietic stem cell transplantation
nutraceutical support of fatigue reduction, improved physical, mental & cognitive function and mitochondrial function

Conditions: Fatigue

Summary: the purpose for this protocol is to perform an open-label human clinical pilot study on the effects of consumption of two nutraceutical blends in subjects with long-term unexplained fatigue interfering with daily living.

this is an open-label human clinical study to evaluate the effects of consumption of the nutraceutical product atp-fuel, compared to the nutraceutical product atp-ii. the study participants will be randomized to one of three groups: consuming atp-fuel (5 capsules, twice daily); consuming atp-ii (3 capsules, once daily); or consuming atp-ii (3 capsules, twice daily). the study is of 8 weeks' duration, with evaluation at baseline, 1, 4, and 8 weeks of product consumption. at each visit the following measurements and procedures are performed: blood pressure, questionnaires pertaining to fatigue, pain and wellness, and a blood draw. the blood is used for testing of lipid peroxidation and mitochondrial volume and metabolic activity.

Eligibility criteria:
inclusion criteria: * adult people of either gender; * age 18-75 years (inclusive); * bmi between 18.0 and 34.9 (inclusive); * experiencing fatigue, at a level that moderately to severely interferes with daily activities, for the past 6 months. exclusion criteria: * cancer during past 12 months; * chemotherapy during past 12 months; * currently taking blood thinning medication (81mg aspirin allowed); * getting regular joint injections (such as cortisone shots); * have received a cortisone shot within past 12 weeks; * major surgery within the past 3 months; * major trauma within the past 3 months; * any other significant disease or disorder that the investigator judges may put the subject at risk because of participation in the study, or may influence the result of the study; * known food allergies or sensitivities related to the test products; * participation in another research study involving an investigational product in the past month; * planned surgery within 2 weeks of completing the study; * previous major surgery to stomach or intestines \[(absorption of test product may be altered) minor surgery is not a problem, including appendix and gallbladder removal\]; * unwilling to maintain a constant intake of supplements over the duration of the study; * women who are pregnant, nursing, or trying to become pregnant.