Kornimate/medical-research-clean huggingface dataset:
genetic epidemiology of hypertriglyceridemia

Conditions: Cardiovascular Diseases; Coronary Disease; Hyperlipidemia, Familial Combined; Hyperlipoproteinemia Type iv

Summary: to determine prospectively the role of elevated plasma triglyceride (tg) as a risk factor for 20-year coronary heart disease (chd) mortality in familial combined hyperlipidemia (fchl) and familial hypertriglyceridemia (fhtg), the familial forms of hypertriglyceridemia. also, to perform genetic epidemiologic studies of recently identified lipoprotein risk factors for chd, including atherogenic lipoprotein phenotypes (alp) based on subclasses of low-density lipoproteins (ldl), lipoprotein(a) (lp(a)) and apolipoprotein (apo) b plasma levels, and apo e isoforms.

background: the study provided valuable new data on the role of triglyceride as a risk factor for coronary heart disease and on the genetic epidemiology of lipoprotein risk factors, using the only existing sample of families with hypertriglyceridemia that could be studied prospectively. design narrative: using a sample of 101 families identified and studied in seattle in the early 1970s, the study sought to determine if 20-year chd mortality and all-cause mortality were increased in siblings and offspring of probands from families with familial combined hyperlipidemia and familial hypertriglyceridemia, compared to a group of married-in spouse controls. the study also sought to determine if elevated plasma triglycerides at baseline predicted 20-year chd mortality in these family members. based on new blood samples from these same families, the inheritance of lap phenotypes was investigated, the association of elevated plasma lp(a) and apo b levels with parental chd mortality was examined, and the association of lipid levels with apo e isoforms was investigated. a repository of frozen white blood cells and plasma aliquots for future genetic studies was established.. these hypotheses were addressed by determining the vital status of 1009 family members in the 101 families, carefully classifying the cause of death as chd or not for deceased family members, and by obtaining new blood samples from three generations of these families, including both local and non-local relatives. new personal and family history medical questionnaires were also completed for each participant. the study was renewed in fy 1997 through june 30, 2001. the study has three new specific aims: to elucidate the genetic basis of small, dense, low-density lipoprotein, to map the chromosomal location(s) of gene(s) influencing this phenotype using a whole genome screen; to reveal common genetic influences (pleiotropic effects) on combinations of interrelated lipoprotein risk factors; and to evaluate familial cvd risk by determining the association between cvd in the proband generation and lipoprotein phenotypes, including lipoprotein(a) in the younger offspring generation in specific forms of familial hyperlipidemia.

Eligibility criteria:
no eligibility criteria
identification of palliative care needs and prognostic factors of survival in tailoring appropriate interventions in advanced oncological, renal and pulmonary diseases

Conditions: Cancer; Chronic Renal Failure; Chronic Obstructive Pulmonary Disease; Idiopathic Pulmonary Fibrosis

Summary: this is a prospective observational study done on 3 patient populations (cancer, chronic pulmonary and renal disease). all patients will be treated and monitored according to the local clinical practice. no additional procedures/patient visits in comparison with the usual clinical practice are planned for the study.

this is a prospective observational study done on 3 patient populations (cancer, chronic pulmonary and renal disease). all patients will be treated and monitored according to the local clinical practice. no additional procedures/patient visits in comparison with the usual clinical practice are planned for the study. the primary objective is to analyze appropriateness and timeliness of progressive palliative care approach (initially simultaneously with ongoing disease-oriented treatment and subsequently possibly as the only modality of care to avoid aggressiveness of care) in patients with: * first diagnosis of advanced metastatic non-small cell lung cancer, or advanced gastric cancer or advanced pancreatic adenocarcinoma * advanced chronic respiratory failure, caused by chronic obstructive pulmonary disease (copd) or idiopathic pulmonary fibrosis (ipf). * advanced chronic renal failure

Eligibility criteria:
inclusion criteria: * both sex; * all ethnic background; * age ≥18 years; * subjects who are, in the opinion of the investigator, able to understand this study and to cooperate with the study procedures; * written informed consent; * not receiving care from the palliative care service inclusion criteria specific for population a: * diagnosis of inoperable locally advanced and/or metastatic non-small cell lung cancer, or gastric cancer or pancreatic adenocarcinoma within the previous eight weeks, any t, any n, m+ or t4 inoperable (neoadjuvant excluded); * life expectancy \>2 months; inclusion criteria specific for population b: * diagnosis of chronic obstructive pulmonary disease (copd) with at least two of these characteristics: age \> 70 years, fev1 \ 1 admission/year in hospital for copd exacerbated, congestive heart failure and/or other comorbidity, weight loss/cachexia, reduced functional autonomy, increase dependence. * or idiopathic pulmonary fibrosis (ipf) diagnosis with at least two of these characteristics: age \> 70 years, histological pattern "uip" (if known), dependence on oxygen-therapy, radiological aspect of "honeycomb" to the hrtc of the thorax, reduced functional autonomy, increased dependence. inclusion criteria specific for population c: - diagnosis advanced chronic renal failure with at least two of these characteristics: age \> 75 years, advanced malignancy, severe malnutrition, cardiac or pulmonary pathology terminal, multiple organ failure in intensive care.

Keywords: palliative care appropriateness cancer chronic pulmonary failure chronic renal failure
effect of a grape seed extract (gse) on insulin resistance

Conditions: Metabolic Syndrome

Summary: in people with the metabolic syndrome, the investigators hypothesize that administration of a single 300 mg dose of a grape seed extract (gse) will reduce insulin resistance (how well cells in the body can take up and use glucose), oxidative stress, and the amount of oxidized ldl in the blood during a 24 hour period. these measurements will be assessed at hourly intervals during the 24 hour study day protocol. additionally, the investigators hypothesize that daily administration of 300 mg of gse for 30 days will decrease baseline insulin resistance, oxidative stress, and the level of oxidized ldl in the blood.

in people with the metabolic syndrome, the investigators hypothesize that administration of a single 300 mg dose of a grape seed extract (gse) will reduce insulin resistance (how well cells in the body can take up and use glucose), oxidative stress, and the amount of oxidized ldl in the blood during a 24 hour period. each of these can be elevated after eating high fat meals, which are commonly found in the average western diet. to better assess the impact of these high fat eating patterns, three standardized high fat meals will be served during the study day: breakfast, lunch, and dinner. measurements in the blood will be assessed at hourly intervals during the 24 hour study day protocol. additionally, the investigators hypothesize that daily administration of 300 mg of gse for 30 days will decrease baseline insulin resistance, oxidative stress, and the level of oxidized ldl in the blood when this 24 hour study day protocol is repeated and breakfast, lunch, and dinner are again served. insulin resistance will be measured using a comparison of insulin and glucose levels in the blood. oxidative stress, a measure of inflammation, will be measured by cytokines levels in the blood. the level of oxidized ldl will be measured in the blood. the investigators also plan to undertake a subsidiary pharmacokinetic study on the various polymers which are known to be present in grape seed extracts to determine their bio-availability and their relationship to the biological effects observed.

Eligibility criteria:
inclusion criteria * metabolic syndrome, based on subject meeting at least 3 of the following criteria: * abdominal obesity with waist circumference \> 40 inches in men or \> 35 inches in women, * pre-hypertension with blood pressure \> 135/85, * fasting blood glucose levels above 110 mg/dl, * plasma triglyceride levels in excess of 150 mg/dl, * hdl levels below 40 mg/dl in men or 50 mg/dl in women. exclusion criteria: * any known systemic disease, * diabetes, * alcohol consumption \> 1-2 drinks/week, * taking any medications or supplements that will affect metabolism, their ability to exercise or oxidative status, * smokers, * female subjects having abnormal menstrual cycles, taking oral contraceptives, pregnant or lactating.

Keywords: insulin resistance central adiposity elevated blood pressure vascular reactivity elevated triglycerides low high-density lipoprotein (hdl)
an observational study of avastin (bevacizumab) in elderly patients with non-squamous non-small cell lung cancer in clinical practice

Conditions: Non-Squamous Non-Small Cell Lung Cancer

Summary: this prospective, observational study will assess the effectiveness and safety of avastin (bevacizumab) as 1st line therapy in elderly patients with advanced non-squamous non-small cell lung cancer in clinical practice. therapy with avastin and standard chemotherapy will be administered according to the treating physician. data will be collected for approximately 4 years.


Eligibility criteria:
inclusion criteria: * adult patients, \>= 65 years of age * diagnosis of advanced non squamous non-small cell lung carcinoma (nsnsclc, stage iiib or iv) for whom the physician has decided to initiate a treatment with avastin combined with chemotherapy as 1st line therapy * having received oral and written information about the study, and having signed a written consent form exclusion criteria: * participation in a cancer clinical trial with an investigational medicinal product other than this study * patient previously treated with avastin * patient under supervision or guardianship
treatment of ocular graft-versus-host disease (gvhd) with topical loteprednol etabonate 0.5%

Conditions: Dry Eyes

Summary: the purpose of this research is to: 1. evaluate the safety and efficacy of a steroid eye drop (lotemax) in patients who have been diagnosed with graft-versus-host disease (gvhd), which is a complication that may occur after bone marrow transplant where the newly transplanted material attacks the patient's body and may cause eye dryness. 2. assess the safety and efficacy of lotemax in decreasing the eye's reaction to the process in gvhd before the patient undergoes bone marrow transplant. 3. compare how well lotemax works in decreasing the process in gvhd with an immunosuppressive eye drop (restasis), which has been commonly used in the treatment of this condition.

allogeneic bone marrow or peripheral stem cell transplantation result in graft-versus-host disease. ocular symptoms may be the first presentation of gvhd and may be seen in the absence of systemic manifestations. gvhd is categorized into acute and chronic forms as defined by 100 days after the transplant. acute gvhd is characterized by dermatitis, hepatitis, and enteritis. chronic gvhd involves the skin, mouth, liver, gastrointestinal tract, lungs, and eyes. ocular gvhd is a common cause of dry eye symptoms in patients who have undergone bone marrow transplant (bmt), and can be defined as ocular surface disease in the context of gvhd. dry eyes develop in 76% of acute gvhd patients and between 62.5% and 81.8% of chronic gvhd patients. current treatment for ocular gvhd includes topical cyclosporine 0.05% (restasis, allergan). topical loteprednol etabonate 0.5% (lotemax, bausch and lomb) has been shown to be safe and efficacious in treatment of inflammatory ocular disorders, but has not been prospectively studied in ocular gvhd. 2. hypothesis: we anticipate that topical loteprednol etabonate 0.5% will be safe and efficacious in treatment of ocular gvhd patients, and would add to the armamentarium of therapeutics for this disease. further, by following the natural progression of the disease prior to a patient's bone marrow transplant (bmt), we may elucidate a new standard of care for these patients - one that involves referral to an ophthalmologist before ocular gvhd symptoms arise.

Eligibility criteria:
inclusion criteria: scheduled for allogenic bone marrow transplant exclusion criteria: allergic reaction to loteprednol or cyclosporine, previous allogenic transplant

Keywords: graft versus host disease (gvhd) dry eyes bone marrow transplant (bmt) restasis lotemax
accelerated recovery pathway for discharge after surgery in patients with pancreatic cancer

Conditions: Pancreatic Carcinoma

Summary: this randomized clinical trial studies accelerated recovery pathway for discharge after surgery in patients with pancreatic cancer. a standardized accelerated recovery pathway may improve outcomes after surgery following complex abdominal operations resulting in a shorter length of stay in patients with pancreatic cancer. it may also help patients to mobilize more quickly and return to the home setting, decrease hospital-acquired infectious complications, and increase potential cost savings. it is not yet known whether an accelerated recovery pathway is better than a standard recovery pathway for discharge following surgery in patients with pancreatic cancer.

primary objectives: i. the use of an accelerated pathway will result in a shorter postoperative hospital length of stay for patients undergoing pancreaticoduodenectomy (pd) without an increase in perioperative complications or readmission rates. secondary objectives: i. the investigators anticipate lower cost, lower readmission rate, similar rate of post-operative complications (delayed gastric emptying \[dge\], anastomotic leaks, intra-abdominal abscesses, wound infection, urinary tract infection \[uti\], respiratory compromise, renal failure, etc.) in our study group. outline: patients are randomized to 1 of 2 treatment arms. arm i: patients follow the standard 7-day pathway at the end of surgery. arm ii: patients follow the whipple accelerated 5-day pathway at the end of surgery. the accelerated pathway includes more rapidly leaving the icu setting, early mobilization and enhanced physical therapy, multimodal pain control, dietary modifications, and increased and standardized phone contact by a nurse practitioner during the first week following hospital discharge. after completion of study treatment, patients are followed up periodically.

Eligibility criteria:
inclusion criteria: 1. pancreaticoduodenectomy 2. firm gland texture 3. subjects able to provide informed consent exclusion criteria: 1. preoperative factors: * congestive heart failure (chf) * end stage renal disease (esrd) * chronic obstructive pulmonary disease (copd) * pregnancy * albumin \< 3 gm/dl * poor preoperative performance status as defined by: timed get up and go (\< 15 seconds) * patients cannot be homeless or have substance dependence 2. intraoperative factors: * estimated blood loss (ebl) \> 1 liter * failure to extubate at the conclusion of the case * operative time \> 8 hours * need for vascular resection/reconstruction
inhaled ibuprofen to treat covid-19

Conditions: Coronavirus Infection; Respiratory Disease; SARS (Disease)

Summary: the study aims to evaluate the reduction in severity and progression of lung injury with inhaled ibuprofen in patients with severe acute respiratory syndrome due to sars-cov-2 virus.


Eligibility criteria:
inclusion criteria: 1. provision of written informed consent by the patient or by the patient's legal representative. 2. confirmed or suspected sars-cov-2 infection; 3. pneumonia without criteria of severity. 4. with some of the following conditions: * diabetes. * cardiovascular disease. * chronic kidney disease. * chronic obstructive pulmonary disease. * structural diseases of the lung * immunocompromise. 5. patient who presents negative results by rtpcr for sars cov-2, in case of being highly suspicious, the patient may receive it empirically until the results are obtained. 6. no unstable bronchial asthma exclusion criteria: 1. the doctor considers that participation in the program is not the best for patients or for any condition that prevents the program from being followed safely. 2. patients with a history of unstable bronchial asthma 3. the patient is allergic to ibuprofen or any of the compounds in the preparation. 4. hypersensitivity to the drug, nasal polyps syndrome, angioedema or bronchospasm against aspirin or other nsaids. 5. pregnant or lactating woman, or positive pregnancy test on a pre-dose exam. 6. patient who is expected to be transferred to another place other than the place where the program starts, within 7 days of starting it.
a cohort study on the prognosis of neonatal kcnq2 gene-associated epileptic encephalopathy

Conditions: Seizures; Seizure Disorder; Seizure Newborn; Seizures, Generalized; Epileptic Encephalopathy; Epileptic Encephalopathy, Neonatal-onset; Epileptic Encephalopathy, Infant-onset; KCNQ2

Summary: the researchers hope to explore the etiological distribution and influencing factors of kcnq2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of kcnq2-related convulsions. to formulate countermeasures and measures for prevention, management and health education.

convulsion is the most common clinical manifestation of neonatal central nervous system dysfunction. the incidence of convulsion is very high in neonatal period, especially in the first week after birth. the incidence of convulsion decreases gradually with the increase of age. the incidence of convulsion reported by bassan et al was 1.5 ‰ \~ 3.5 ‰ in term infants and 10% ≤ 130% in premature infants. most of the neonatal convulsions suggest that there are serious primary diseases in the body. in addition to hypoxic-ischemic encephalopathy, intracranial hemorrhage and infection, a large number of studies have proved that genetic factors play a key role in the occurrence of neonatal convulsions and epileptic encephalopathy in infants. nearly 20% to 50% of neonatal convulsions are idiopathic convulsions. it has been thought that kcnq2 gene, a potassium channel subunit located in 20q11.3, and kcnq3 gene, another potassium channel subunit located in 8q24, are mutated. is the molecular basis for some benign familial neonatal convulsions, usually the prognosis is good, but with the expansion of the study sample, investigators found that kcnq2 may be associated with refractory epileptic encephalopathy, and there are few international reports in this regard. the study of kcnq2 gene has led to a new understanding of the etiology of neonatal convulsion. the researchers hope to explore the etiological distribution and influencing factors of kcnq2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of kcnq2-related convulsions. to formulate countermeasures and measures for prevention, management and health education.

Eligibility criteria:
inclusion criteria: * primary or initial convulsion * postnatal age \<28 days. * seizure in the neonatal period * informed consent of parents exclusion criteria: * seizure caused by congenital cerebral hypoplasia or multiple structural malformations. * seizure caused by other system-related syndromes. * seizure caused by perinatal or postpartum factors such as hie, infection, intracranial hemorrhage, etc.
effects of selective inhibition of cholesterol absorption with ezetimibe on intestinal cholesterol homeostasis in dyslipidemic men with insulin-resistance - a pilot study

Conditions: Metabolic Syndrome X

Summary: ezetimibe has been shown to inhibit cholesterol absorption and several lines of evidence from in vitro systems and animal models suggest that this effect is associated with an increase in low-density lipoprotein (ldl) receptor expression in the small intestine. the impact of a treatment with ezetimibe on intestinal gene expression and protein mass levels of ldl receptor and other key genes involved in intestinal cholesterol homeostasis will be examined in dyslipidemic men with insulin-resistance. in the present study, gene expression studies and protein mass levels will be assessed on duodenal biopsies by real-time polymerase chain reaction (rt-pcr) and liquid chromatography-mass spectrometry (lc-ms/ms), respectively. the primary objective of this proposal is to examine the effects of ezetimibe on intestinal gene expression (rt-pcr) and protein mass levels (lc-ms/ms) of ldl receptor in dyslipidemic men with insulin-resistance. the secondary objective is to examine the impact of ezetimibe treatment on intestinal gene expression and protein mass levels of sterol regulatory element-binding protein (srebp)-2, niemann-pick c1-like1 (npc1l1), atp binding cassette gene (abcg)-5/8, proprotein convertase subtilisin/kexin type 9 (pcsk9) and 3-hydroxy-3-methyl-glutaryl-coa (hmg coa) reductase. primary hypothesis treatment with ezetimibe 10 mg/day will significantly increase duodenal mrna and protein mass levels of ldl receptor in dyslipidemic men with insulin-resistance. secondary hypothesis treatment with ezetimibe 10 mg/day will significantly increase duodenal mrna and protein mass levels of srebp-2, npc1l1, abcg5/8, pcsk9 and hmg coa reductase in dyslipidemic men with insulin-resistance.


Eligibility criteria:
inclusion criteria: * men aged between 18-60 years * waist circumference \> 102 cm * hdl-cholesterol \< 1.1 mmol/l * triglycerides \> 1.7 mmol/l * fasting blood glucose \> 6.1 mmol/l * normal blood pressure (\<130/85) exclusion criteria: * women * men \ 60 years * smokers (\> 1 cigarette/day) * body weight variation \> 10% during the last 6 months prior to the study baseline * subjects with a previous history of cardiovascular disease * subjects with type 2 diabetes * subjects with a monogenic dyslipidemia * subjects on hypertension medications or medications known to affect lipoprotein metabolism or the integrity of gastrointestinal mucosa * subjects with endocrine or gastrointestinal disorders * history of alcohol or drug abuse within the past 2 years * subjects who are in a situation or have any condition that, in the opinion of the investigator, may interfere with optimal participation in the study.
osteoporosis prevention with low dose alendronate

Conditions: Osteopenia

Summary: the purpose of this study is to evaluate the efficacy of the intermittent administration of alendronate in a low dose, 70 mg once every two week, as osteoporosis prevention for menopausal, osteopenic patients, who don't want or can't receive an oestrogenic substitution treatment.


Eligibility criteria:
inclusion criteria: * 45 to 60 year-old women * menopausal since at least 6 months * baseline lumbar bmd from -1 till -2.5 exclusion criteria: * bone disease other than osteopenia * treatment with selective estrogen receptor modulator (serms), calcitonin or hormone replacement therapy within 6 monts prior to randomization * former or current treatment with any bisphosphonate or bone forming agents * chronic use of oral or iv corticosteroids * any diagnosis of malignancy less than 12 months

Keywords: osteopenia osteoporosis prevention alendronate