Kornimate/medical-research-clean huggingface dataset:
study of clinical and molecular manifestations of genetic disorders

Conditions: Hereditary Diseases

Summary: this study will investigate the cause and natural history (medical problems that appear over time) of certain genetic disorders. it will also try to locate the abnormal genes responsible for these conditions and eventually develop tests to predict who is likely to be affected and to what degree. patients with known or suspected genetic disorders in certain categories, such as those involving chromosomal or metabolic abnormalities, immune system or blood disorders, abnormal growth, benign tumors, and others may be eligible for this study. participants will be interviewed by specialists in genetics about their condition and family history. they may also be asked to have a physical examination and certain tests needed for study of the specific individual's condition. these may include collection of blood samples (up to 3 tablespoons); imaging studies, such as computerized tomography (ct), magnetic resonance imaging (mri), ultrasound and echocardiography; skin biopsy (removal of a small sample of skin tissue under local anesthetic), and other procedures. dna testing may reveal the genetic abnormality responsible for the disorder. participants who so wish will have an opportunity to talk with experts about the health implications of the test results. this study may provide information that will lead to improved treatment or management of these inherited disorders, as well as more effective genetic counseling for families.

individuals and their families affected by disorders with a potentially genetic basis within six broad categories will be evaluated over time to characterize the natural and clinical history of various specific disorders. medical and laboratory evaluations will be completed to identify areas of management concern that have not been previously described. further protocols will be developed addressing specific disorders once a number of affected individuals have been investigated and is sufficient to query various aspects of those disorders. issues for both diagnosis and medical management of those affected with certain genetic disorders will be collated and addressed within a national consensus conference format. in addition, phenotype to genotype correlation will be established to further understanding of specific molecular alterations on phenotypic expression. this broad-based protocol will also facilitate the training of fellows in medical genetics, graduate and post graduate training in genetics and genetic counseling.

Eligibility criteria:
patients and their families with known or suspected genetic disorders within the following categories will be recruited: hereditary connective tissue disorders; phacomatoses; chromosomal disorders; dysmorphic syndromes; neuromuscular or neurological disorders; inherited immunological and hematologic disorders.

Keywords: clinical genetics etiology medical screening prognosis genetic disorders
laser interstitial thermal therapy under "real time" mri guidance for "minimal invasive" treatment of liver metastasis

Conditions: Carcinoma, Hepatocellular; Liver Neoplasms; Digestive System Neoplasms

Summary: the purpose of this study is to determine if the, mr guided, laser interstitial thermal therapy (litt) treatment technique can be safety and efficiently used for the human liver metastasis

this new "minimally invasive" technique has been tested so far, with success, on animal brain and prostate tumors. litt has also tested with success by other teams for the treatment of liver metastasis. the main purpose of this study is to determine if the visualase, mr guided, laser interstitial thermal therapy device can be safely and efficiently used for the treatment of human liver metastasis originating from the colon and rectal primary tumors. as secondary objectives for this clinical study is to explore the tolerance of the treatment and its contra indications. the clinical trial will include a statistical sample of 25 patients and will run over a period of 24 months. the inclusion period will be of 12 months and the patients will be followed up during a period of 7 days after the intervention. the clinical trial will be performed at the cochin university hospital of paris and the patients will be coming from the oncology / surgery departments of the hospital. the patients recruited for this study are those who developed several liver metastasis and are planned for the a surgical resection for part of the liver (where metastasis are located). prior to the surgical resection, a litt procedure will be performed on one of the metastasis. after the surgical resection histological analysis will be elaborated to compare the real necrosis volume created by the litt procedure to the expected predicted volume.

Eligibility criteria:
inclusion criteria: * patients 18 years of age or older * patients with liver metastasis, originating from colon and liver cancer and proved by histological analysis * patient that are scheduled for a surgical resection of part of the liver, * patient having a liver metastasis, originating from colon and rectal cancer, smaller or equal to 3 cm * patients having the liver metastasis at a distance of at least 1 cm or from the hepatic capsule or/and from a vascular structure exclusion criteria: * patients younger than 18 years old * patients presenting contra indication for mri studies * patient presenting contra indication to liver surgery * patients who already had other interstitial treatment on the targeted lesion

Keywords: mri guided laser therapy laser interstitial thermal therapy magnetic resonance thermal imaging liver metastasis
liver ablative radiotherapy utilising kilovoltage intrafraction monitoring (kim)

Conditions: Liver Cancer

Summary: primary and secondary liver cancer patients will receive liver sabr with or without kim intervention.

this is a single arm, phase ii, two stage study designed to evaluate cancer targeting accuracy, treatment outcomes and treatment efficiency in 46 patients eligible for sabr for either primary or secondary liver malignancy with the incorporation of kim.

Eligibility criteria:
inclusion criteria: * ecog performance status 0-1 * life expectancy \>6 months * number of lesions: ≤ 3 * lesion size : \< 10 cm for a single lesion (and up to 10 cm cumulative diameter for multiple lesions) * child-pugh a or b7 within 6 weeks prior to study entry * unsuitable for rfa or resection or transplant * distance from gtv to luminal structures (i.e., oesophagus, stomach, duodenum, small or large bowel) ≥ 10mm * all blood work obtained within 6 weeks prior to study entry with adequate organ function * may have had previous surgery, rfa or ethanol injection * patient must have been discussed at multidisciplinary tumour board with consensus opinion for sbrt exclusion criteria: * hcc/cholangiocarcinoma with evidence of metastatic disease including nodal or distant metastases * metastatic disease with complete liver disease response to first-line chemotherapy (i.e. no target for sbrt) * previous radiation to the liver (including sirtex) * untreated hiv or active hepatitis b/c * on systemic antineoplastic drug therapy within 7 days before inclusion * pregnant or lactating women

Keywords: primary liver cancer secondary liver cancer kilovoltage intrafraction monitoring stereotactic ablative body radiation
single locking miniplate and two non-locking miniplates in the management of parasymphyseal fracture

Conditions: Mandible Fracture

Summary: evaluating the biting force after management of parasymphyseal fracture in patients with two-line mandibular fractures.

evaluating the biting force after using 2.0 mm single locking miniplate versus 2.0 mm two conventional non-locking miniplates in the management of parasymphyseal fracture in patients with two-line mandibular fractures.

Eligibility criteria:
inclusion criteria: * contra-lateral unfavorable non-comminuted simple or compound mandibular fracture in the parasymphyseal and angle regions. * fractures amenable to treatment using intra oral approach. exclusion criteria: * medically compromised patients who are unfit for the procedure under general anesthesia. * patients with comminuted fractures. * patients with history of occlusion disturbances or skeletal malocclusion. * patients with insufficient dentition to reproduce occlusion.
rivaroxaban monotherapy after cyp2c19 genotype testing in patients with atrial fibrillation and percutaneous coronary intervention

Conditions: Atrial Fibrillation; Coronary Artery Disease

Summary: rationale: patients with atrial fibrillation who undergo percutaneous coronary intervention for coronary artery disease are treated with antiplatelet therapy on top of a non-vitamin k oral anticoagulant. inevitably, this is associated with a higher risk of (major) bleeding. given the reduction of ischemic risk with low-dose rivaroxaban and advances in stent properties, implantation techniques, and post-pci management, it may be possible to treat atrial fibrillation patients after percutaneous coronary intervention with full-dose rivaroxaban and without antiplatelet therapy. objective: this study will serve as a pilot to investigate the feasibility and safety of rivaroxaban monotherapy in 50 patients with atrial fibrillation after percutaneous coronary intervention. study design: single-centre, single arm pilot study with a stopping rule based on the occurrence of definite stent thrombosis study population: patients with atrial fibrillation and an indication for a non-vitamin k oral anticoagulant who undergo optimal percutaneous coronary intervention intervention: rivaroxaban 20 mg once daily or 15 mg once daily, in case of moderate-to-severe kidney dysfunction, for 6 or 12 months without antiplatelet therapy main study endpoint: the primary ischemic endpoint is the composite of all-cause death, myocardial infarction, definite stent thrombosis, and ischemic stroke at 6 months after percutaneous coronary intervention. the primary bleeding endpoint is the composite of international society on thrombosis and haemostasis defined major and clinically relevant non-major bleeding at 6 months after percutaneous coronary intevention.


Eligibility criteria:
inclusion criteria: * age ≥18 years * successful pci * history of or newly diagnosed (\<72 hours after pci/acs) af or atrial flutter with a long-term (≥ 1 year) indication for oac * treatment with a loading dose of clopidogrel and aspirin prior to or during pci exclusion criteria: * known allergy or contraindication for rivaroxaban * current indication for oac besides atrial fibrillation/flutter (e.g. venous thromboembolism) * overwriting indication for dapt (e.g. tia/cva or pad) * mechanical heart valve prosthesis * moderate to severe mitral valve stenosis (ava ≤1.5 cm2) * intracardiac thrombus or apical aneurysm requiring oac * kidney failure (egfr \<15) * active liver disease (alt, asp, ap \>3x uln or active hepatitis a, b or c) * active malignancy excluding non-melanoma skin cancer * active bleeding on randomization * severe anaemia requiring blood transfusion * pregnancy or breast-feeding women * planned high-bleeding risk surgical intervention within 6 months after pci for stable cad and 12 months after pci for acs * pci of left main disease, chronic total occlusion, bifurcation lesion requiring two-stent treatment, saphenous or arterial graft lesion, severely calcified lesions * participation in another trial with an investigational drug or device (i.e. stent)
evaluation of radiofrequency neurolysis and chemical neurolysis of the genicular nerves

Conditions: Knee Osteoarthritis

Summary: knee osteoarthritis is one of the most common causes of pain and loss of function in the elderly population and is a source of socioeconomic costs. selective denervation of the superior medial, superior lateral and inferior medial genicular nerves, which provide the sensory innervation of the knee joint, is an effective treatment method used to relieve pain and improve functional capacity. radiofrequency neurolysis of genicular nerves (rfn) is accepted as an effective technique for the treatment of knee pain. however, due to higher equipment costs, longer procedure times, and procedure-related pain, alternative treatments are needed.


Eligibility criteria:
inclusion criteria: - exclusion criteria: * coagulation disorders * rheumatoid disorders * infections
the effectiveness of probiotics for the therapy of acute pharyngotonsillitis in adult patients

Conditions: Throat Pain

Summary: the addition of probiotics to the routine therapy of acute pharyngotonsillitis in adult patients may shorten the duration, and reduce the severity of the disease.

hypothesis the addition of probiotics to the routine therapy of ap in adult patients may shorten the duration, and reduce the severity of the disease. study design a prospective, randomized, placebo-controlled, double-blinded study comparing treatment with probiotics to placebo in patients with ap. the study will be conducted in accordance with the ethical standards of the helsinki declaration and will be approved by the human experimentation ethics committee of the ziv medical center. signed informed consent will be required from all patients before inclusion.

Eligibility criteria:
inclusion criteria: * age over 18 years * acute pharyngotonsillitis for which hospitalization for intravenous antibiotic treatment and/or fluids is needed exclusion criteria: * current therapy with systemic prednisone or equivalent at 20 mg/d for more than 10 days prior to inclusion
the effects of enzyme-rich malt extract on chronic constipation

Conditions: Constipation; Quality of Life; Methane Production

Summary: participants with constipation will take enzyme-rich malt extract for 4 weeks whilst completing a daily bowel habit diary before and during intervention.

this pilot study is an open label, pre-post interventional study to evaluate the use of erme in the treatment of people with chronic constipation. this study involves eligible participants that have a diagnosis constipation according to the knowles-eccersley-scott score (kess). participants will receive intervention with a food supplement enzyme-rich malt extract (erme) at a dose of 15ml twice daily with food. before intervention commences, participants will complete baseline breath samples and a 7 day stool diary to assess stool frequency and consistency. participants will then receive the erme as instructed and continue to complete a bowel diary. then at 4 weeks since starting the intervention, participants will provide another breath sample and complete another set of breath samples.

Eligibility criteria:
inclusion criteria: * participant has diagnosis of chronic constipation according to the kess score. * participant can communicate and understand english. * participant has a body mass index (bmi) between 18.5 and 34.9kg/m2 (bounds included). exclusion criteria: * dependant use of opioid-based medications. * new use of prokinetic therapy during the study. * use of antibiotics in the last 4 weeks. * use of probiotics in the last 2 weeks. * organic gastrointestinal disease, including inflammatory bowel disease (ibd), coeliac disease and diverticulitis. * participant has known mechanical obstruction of the gi tract. * participant has diabetes. * participant has any hepatic disease. * participant has any disease of the cns. * participant has had previous abdominal or colorectal surgery including appendectomy, cholecystectomy, and hysterectomy. * participant has intake of erme for 2 weeks before the study.

Keywords: constipation
pain control for undergoing costal cartilage harvesting

Conditions: Nasal Surgery

Summary: the purpose of this study is to find out whether injecting the u.s. food and drug administration (fda) approved drug exparel®, a long acting (approximately 96 hours) numbing medication, will reduce pain after rib cartilage removal in comparison to the standard injection of xylocaine®.


Eligibility criteria:
inclusion criteria: * diagnosis of functional nasal obstruction or aesthetic nasal concern requiring nasal surgery with costal cartilage harvest. * willing and able to understand and provide written informed consent. exclusion criteria: * known pregnancy. * women who are currently nursing a child. * history of coagulopathy; such as hemophilia or von willebrand disease, or any congenital or acquired bleeding disorder. * use of anticoagulation medication during the study, i.e. aspirin, coumadin, plavix, or medications similar in class to these medications will exclude the patient from participation. * inability to provide informed consent (patients under guardianship). * known hypersensitivity to local anesthetics * history of cardiac disease; such as current impaired cardiovascular function, past history of myocardial infarction, congenital heart disease, current cardiac symptoms, i.e. angina, shortness of breath, or chest pain as determined by history or review of the medical record. * history of complex pulmonary disease; such as uncontrolled asthma, copd, or interstitial lung disease as determined by history or review of the medical record. impaired renal function as documented in the medical record in the last 3 months with a serum creatinine greater than 1.2 mg/dl or glomerular filtration rate \< 60 ml/min/bsa as determined by history or review of the medical record. - history of or current hepatic disease as documented by liver function test abnormality in the last 3 months as determined by history or review of the medical record.
a study of abemaciclib (ly2835219) with and without food in participants with metastatic breast cancer

Conditions: Metastatic Breast Cancer

Summary: the main purpose of this study is to examine the side effects that participants with metastatic breast cancer experience when taking abemaciclib with or without food.


Eligibility criteria:
inclusion criteria: * have a diagnosis of hr+, her2- metastatic breast cancer (mbc). * have all of the following: * recurrent, locally advanced, unresectable or mbc with disease progression following anti-estrogen therapy. * prior treatment with chemotherapy for locally advanced or metastatic disease. * no prior treatment with cyclin-dependent kinases (cdk) 4 and 6 inhibitor. * have eastern cooperative oncology group performance status (ecog ps) ≤1. * have discontinued all previous treatments for cancer and recovered from the acute effects of therapy. * have adequate organ function. * women of child-bearing potential must have a negative pregnancy test. * are able to swallow tablets/capsules. exclusion criteria: * are currently receiving treatment in a clinical study involving an investigational product. * have a serious concomitant systemic disorder. * have symptomatic central nervous system (cns) malignancy or metastasis. * have a symptomatic human immunodeficiency virus (hiv) infection or symptomatic activated/reactivated hepatitis a, b, or c. * have a personal history of syncope of either unexplained or cardiovascular etiology, ventricular tachycardia, ventricular fibrillation, or sudden cardiac arrest. * have a history of any other cancer. * had major surgery within 14 days prior to randomization. * are breastfeeding. * have received treatment with a drug that has not received regulatory approval for any indication within 14 or 21 days of the initial dose of study drug for a nonmyelosuppressive or myelosuppressive agent, respectively.
the effect of whole grain on gut microbiome and metabolic health

Conditions: Metabolic Disease; Injury of Gastrointestinal Tract

Summary: objective: to identify how specific changes of the whole grain content in the diet affect the host-gut microbiome interactions with implications for metabolic health . design: a randomized, controlled, single-blinded, cross-over intervention trial consisting of two 8-week intervention periods, separated by a 6-week wash-out period. a total of 60 participants will be included. intervention: low vs. high whole grain intake.

the study is designed as a randomized, controlled, single-blinded, cross-over intervention trial consisting of two 8-week interventions periods, separated by a 6-week wash-out period. a total number of 60 participants will be included. participants consume, in randomized order, a diet rich in whole grain in the active treatment period and a refined grain diet during the control period. measurements: insulin sensitivity will be assessed by means of a meal challenge test and by the homeostasis model assessment of insulin resistance (homa-ir) which is the primary outcome of this study. secondary outcomes include metabolic and inflammatory markers, appetite hormones, transit time, and gm composition. furthermore, selected control measures are included; 4-day food records and a study intervention diary.

Eligibility criteria:
inclusion criteria: * body mass index (bmi): 25 - 35 kg/m2 * no medical prescribed diet * weight stable * no blood donation during the study * intense sporting activities less than 10h/ week * alcohol consumption less than 14 units/ week (female) and 21 units/ week (male) * signed written consent exclusion criteria: * pharmacological treatment; hypertension, diabetes and blood lipid regulation * lactating (or lactating, 6 weeks ago), pregnant (or pregnant, 3 months ago) or wish to become pregnant during the study * participation in another biomedical trial 1 month prior to study start * diagnosed with any form of diabetes, celiac disease or chronic pancreatitis * reported chronic gastrointestinal disorders * antibiotic treatment for 3 month prior to study start * intake of vitamin, mineral, or pre- or probiotic supplements for 1 month prior to study start * blood hemoglobin \< 7.0 mmol/l * blood donation within 1 month prior to study start
peritoneal lavage on the incidence of pancreatic fistula and related complications after pancreatoduodenectomy

Conditions: Pancreatic Fistula; Pancreaticoduodenal; Fistula

Summary: as one of the possible strategies to prevent pancreatic fistula, peritoneal lavage is still widely used in clinical practice, but it lacks more evidence of evidence-based medicine and recommendations of guidelines. some clinicians believe that routine flushing after pancreatoduodenectomy wastes medical resources and has a negative impact on patients' comfort. in this study, the investigators designed a multicenter prospective controlled trial to compare the effects of peritoneal lavage and natural drainage on the incidence of pancreatic fistula and related complications after pancreatoduodenectomy. to study the indications of peritoneal lavage.


Eligibility criteria:
inclusion criteria: 1. preoperative diagnosis was pancreatic head, lower common bile duct, ampulla and duodenum tumors; 2. patients with resectable tumors evaluated by imaging examination, and patients who plan to undergo pancreatoduodenectomy; 3. subjects informed consent, understood and were willing to cooperate with the trial protocol, and signed relevant documents. exclusion criteria: 1. complicated with severe liver, kidney, heart, brain, lung and other organ complications; 2. intraoperative changes in surgical methods, such as patients with tumor dissemination and only abdominal opening and closing; or it needs to be resected in combination with other organs; 3. patients and their families do not understand the treatment implementation plan of this study; 4. failure to complete follow-up;