Kornimate/medical-research-clean huggingface dataset:
genetics of the combined pulmonary fibrosis and emphysema syndrome

Conditions: Combined Pulmonary Fibrosis and Emphysema Syndrome; Pulmonary Fibrosis; Emphysema; Healthy Subjects

Summary: the combined pulmonary fibrosis and emphysema syndrome (cpfe) individualized by our group in 2005 is characterized by an often severe dyspnea, almost exclusive male predominance, and often major, profound impairment of gas exchange contrasting with preserved lung volumes and absence of airflow obstruction, and a high risk of pre-capillary pulmonary hypertension responsible for increased mortality. almost all patients are smokers or ex-smokers. there are some arguments in favor of genetic abnormalities in this syndrome of unknown etiology (other than smoking) including short telomeres and mutations in the telomerase complex genes. there are also emphysematous lesions, in patients with familial pulmonary fibrosis, with mutations in the sftpc gene (surfactant protein c), and reported cases of cpfe syndrome with sftpc mutation. no large genetic studies have been conducted to date in the cpfe syndrome. our main hypothesis is that the proportion of subjects with short telomeres is higher among patients with cpfe syndrome than in subjects of similar age with idiopathic pulmonary fibrosis but without emphysema. it has previously been shown that mutations in the telomerase tert or terc genes are mostly found in people whose telomeres are abnormally short. the investigators propose to use that test to identify patients most likely carrying a mutation, and to seek, among them, the mutations in the tert or terc telomerase genes. the objective of the study is to compare the proportion of patients with short telomeres in the group of patients with cpfe syndrome to that of other patients (with idiopathic pulmonary fibrosis without emphysema, or with emphysema without fibrosis).


Eligibility criteria:
inclusion criteria: * age between 18 and 80 years old. * patient with idiopathic pulmonary fibrosis or * patient with emphysema or * patient with combined pulmonary fibrosis and emphysema syndrome or * patient reporting no chronic lung disease exclusion criteria: * other causes of interstitial lung disease or context: * connective * pneumonia drug * pneumoconiosis * sarcoidosis * histiocytosis, lymphangioleiomyomatosis, etc. * refusal to participate in the study or to sign the consent * inability to give informed about the information * woman breastfeeding or pregnant * no coverage for social security * deprivation of civil rights

Keywords: pulmonary fibrosis syndrome genetic emphysema
heart function and exercise capacity in patients with hypertrophic cardiomyopathy

Conditions: Angina, Unstable; Myocardial Infarction; Ischemic Heart Disease

Summary: this study will examine the relationship between certain measures of heart function and exercise capacity in patients with hypertrophic cardiomyopathy (hcm). patients who participated in nhlbi studies 01-h-0006 ("double blind placebo-controlled study of pirfenidone - a novel anti-fibrotic drug - in symptomatic patients with hypertrophic cardiomyopathy associated with left ventricular diastolic dysfunction") and 96-h-0144 ("double blind placebo-controlled study of long-term effects of angiotensin-converting enzyme inhibition (enalapril) and angiotensin ii receptor blockade (losartan) on genetically-induced left ventricular diastolic dysfunction") are eligible for this study. data from echocardiograms and measures of left ventricular pressure obtained from patients in those studies will be analyzed in the current study to assess their influence on exercise capacity. no additional tests, treatments or other procedures are required. information from this study may help in the development of improved drug treatments for hcm.

nih protocols 01-h-0066, double blind placebo controlled study of pirfenidone a novel anti-fibrotic drug in symptomatic patients with hypertrophic cardiomyopathy (hcm) associated with left ventricular diastolic dysfunction and 96-h-0144, double blind placebo-controlled study of long-term effects of angiotensin converting enzyme inhibition (enalapril) and angiotensin ii receptor blockade (losartan) on genetically-induced left ventricular diastolic dysfunction were undertaken to assess the effect of therapeutic interventions on left ventricular (lv) diastolic function. the relationship between baseline measures of diastolic function as assessed by noninvasive modalities such as doppler echocardiography and radionuclide angiography, and qualitative and objective measures of functional capacity in patients without lv outflow tract obstruction has not been reported. in this protocol we will look at measures of lv geometry, relaxation and novel indices of ventricular compliance as they may influence measures of exercise capacity. in all cases, we will use pre-existing baseline data obtained with informed consent as part of the above protocols.

Eligibility criteria:
* eligibility criteria not listed; analysis of data from previous studies.

Keywords: hcm echocardiography diastolic dysfunction enalapril
evaluation of patient satisfaction and color difference between natural teeth and monolithic all-ceramic crowns fabricated from celtra press treated with different surface finishing protocols

Conditions: Natural Optical Properties

Summary: investigating the effect of glazing and polishing on the color difference between natural teeth and all ceramic crowns made from celtra press (zirconia reinforced lithium silicate ceramic).

two groups of patients will be selected according to special inclusion criteria n=5 in each group total of 10 patients, one of the two groups will receive a glazed zirconia reinforced lithium silicate ''celtra press'' crowns and the other group will receive a polished ones of the same material , after crowns delivery color difference (δe) between the natural teeth and the celtra press crown will be measured by a spectrophotometer device (intra oral) and patient satisfaction will be recorded.

Eligibility criteria:
inclusion criteria: * age range of the patients from 20-45 years old; able to read and sign the informed consent document, illiterate patient will be avoided. * patients able physically and psychologically to tolerate conventional restorative procedures. * patients with no active periodontal or pulpal diseases, having teeth with good restorations. * patients with teeth problems indicated for full coverage restoration ( coronal fracture where partial coverage would lack retention, malposed or malformed teeth). * patients with root canal treated teeth requiring full coverage restorations with contralatral tooth not filled or fractured. * patients willing to return for follow-up examinations and evaluation. exclusion criteria: * patients in the growth stage with partially erupted teeth. * patients with poor oral hygiene and motivation. * pregnant women's to avoid any complication that may occur in dental office due to pregnancy or due to injected anesthetic solution. * patients with psychiatric problems or unrealistic expectation * deep discoloration of abutment .

Keywords: celtra press
translation and validation of a disease-specific questionnaire for hirschsprung's disease in danish patients

Conditions: Hirschsprung Disease

Summary: the hirschsprung and anorectal malformation quality of life (haql) questionnaire is a disease-specific quality of life questionnaire with 5 different elements (3 questionnaires for patients (categories: age 8-11, 12-16, and \>17 years) and two questionnaires for parents of patients (categories: patients aged 8-11 and 12-16 years). in the first part of this study, the questionnaires will be translated via forward-backward-translation, culturally adapted and evaluated for content validity. in the second part of the study, the questionnaires will be validated in a cohort of all eligible hirschsprung patients from odense university hospital from 1985-2014.


Eligibility criteria:
inclusion criteria: * diagnosed with hirschsprung's disease between the years 1985-2014 * age \> 7 years * good danish comprehension * signed informed consent exclusion criteria: * inability to follow the procedures of the study, e.g. due to language problems, severe psychological disorders, dementia, etc.

Keywords: hirschsprung disease quality of life translation and validation
serum folic acid levels in preterm infants

Conditions: Very Low Birth Weight Baby

Summary: therefore preterm infants must need folic acid replacement than term babies.

all babies need to different vitamin supplementation. especially preterm infants need some vitamin supplements. folic acid is very important structure of part of cell growing.ın theorically; preterm infants have very rapid cell reproduction capacity than term infants. therefore preterm infants must need folic acid replacement than term babies. the investigators want to determine preterm infants folic acid levels due to gestational age whether needs folic acid replacement.

Eligibility criteria:
inclusion criteria: -all preterm infants exclusion criteria: -major congenital anomaly

Keywords: folic acid replacement folic acid preterm neonate
a study of omp-313m32 in subjects with locally advanced or metastatic solid tumors

Conditions: Locally Advanced Cancer; Metastatic Cancer

Summary: the purpose of this study is to evaluate the safety and tolerability of omp-31m32 as a single agent or in combination with nivolumab. omp-313m32 is an experimental anti-tigit antibody that was developed to block tigit from binding pvr allowing the body's t-cells to destroy cancer cells.

this is an open-label, phase 1a/b dose escalation study of omp-31m32 administered as a single agent or in combination with nivolumab to evaluate the safety, tolerability pharmacokinetics, and pharmacodynamics in patients with locally advanced or metastatic solid tumors. this study consists of a screening period, a treatment period and a post-treatment follow-up period in which patients will be followed for survival for up to 2 years. subjects will be enrolled in two stages in the phase 1a (dose escalation and expansion) and one stage in the phase 1b (dose escalation).

Eligibility criteria:
inclusion criteria: 1. histologic documentation of locally advanced, recurrent or metastatic solid malignancy that has progressed and standard therapy has been ineffective or intolerable. phase 1b subjects must also have experienced disease progression after treatment with an anti pd-1 or pdl-1 agent. 2. ability to understand the willingness and to sign a written informed consent document 3. age \>/= 18 years 4. eastern cooperative oncology group (ecog) performance status of 0 or 1 5. life expectancy \>/=12 weeks 6. measurable disease per response evaluation criteria in solid tumors. 7. adequate hematologic and organ function 8. for women of childbearing potential and men with partners of childbearing potential, agreement (by patient and/or partner) to use two effective forms of contraception from study entry through at least 6 months after the termination visit. exclusion criteria: 1. anti-cancer therapy, including chemotherapy, hormonal therapy, or radiotherapy, within 3 weeks or 5 half lives, whichever is shorter, prior to initiation of study treatment 2. active autoimmune disease or a history of severe autoimmune disease or syndrome 3. history of severe allergic, anaphylactic, or other hypersensitivity reactions to chimeric or humanized antibodies or fusion proteins. 4. inability to comply with study and follow-up procedures. 5. pregnancy, lactation, or breastfeeding women. 6. significant cardiovascular disease, such as new york heart association cardiac disease (class ii or greater), myocardial infarction within the previous 3 months, unstable arrhythmias, or unstable angina. 7. known clinically significant liver disease, 8. major surgical procedure within 28 days prior to initiation of study treatment or anticipation of need for a major surgical procedure during the course of the study. 9. any other diseases, metabolic dysfunction, physical examination finding, or clinical laboratory finding giving reasonable suspicion of a disease or condition that contraindicates the use of an investigational drug or that may affect the interpretation of the results or render the patient at high risk from treatment complications.
a phase iv study, of the efficacy, safety, and acceptability of moviprep® versus colopeg® in colonoscopy preparation

Conditions: Gastrointestinal Diseases

Summary: primary: - to demonstrate the superiority of moviprep® versus colopeg® in gut cleansing prior to colonoscopy. secondary: * to assess the safety of moviprep® versus colopeg®. * to assess acceptability of moviprep® versus colopeg®.

primary efficacy analysis will be performed on the itt population. secondary efficacy analysis will be performed on both itt and pp sets. results will be summarised by treatment and age (overall, 18-35, 36-49, 50-74 and 75-85 years old) and provided in individual data listings. safety analysis will be performed on the safety set (itt population). safety data of all patients exposed will be summarised by treatment and age (overall, 18-35, 36-49, 50-74 and 75-85 years old). acceptability analysis will be performed on the itt population. acceptability data of all patients will be summarised by treatment and age (overall, 18-35, 36-49, 50-74 and 75-85 years old).

Eligibility criteria:
inclusion criteria: 1. the patient's written informed consent must be obtained prior to inclusion. 2. male or female, outpatients between 18 and 85 years old with an indication to colonoscopy. 3. willing and able to complete the entire procedure and to comply with study instructions. 4. females of childbearing potential must employ an adequate method of birth control. exclusion criteria: 1. age \ 85 years old, 2. ileus, 3. suspected intestinal occlusion or perforation, 4. toxic megacolon with severe inflammation conditions of intestinal tract (patients with crohn's disease or ulcerative colitis included), 5. gastroparesis, 6. congestive heart failure nyha iii or iv, 7. documented carcinoma or any other colic disease leading to a fragile mucosa, 8. documented severe renal insufficiency history 9. known hypersensitivity to moviprep®, colopeg® or to any of their components (peg, ascorbic acid etc.), 10. known deficiency in g6pd and/or phenylketonuria, 11. concurrent participation in an investigational drug/device study or participation within 30 days of study entry, 12. females who are pregnant, or planning a pregnancy. females of child bearing potential not using reliable methods of birth control, 13. clinically significant laboratory abnormality or disease which, in the opinion of the investigator, will create a risk for the patient, obscure the effects of study treatment or interfere with study results. 14. vulnerable patients (protected by the law) and those admitted to a sanitary/social institution according to art.l-1121-6 of the french public health code. -
healthy relationships training study: a comparison of interventions to reduce dating violence on college campuses

Conditions: Dating Violence

Summary: the purpose of this study is to compare the efficacy of a mindfulness-based skills training (mbst) to a psychoeducational intervention at reducing dating violence in a sample of college students. the mbst focuses on improving college students' abilities to manage emotionally charged states during conflict with their romantic partners by teaching them mindfulness-based skills. the psychoeducational intervention uses the love is not abuse curriculum. treatment groups are randomly assigned and are compared using a two-armed parallel design. 88 college students currently in a dating relationship were recruited through kent state university's subject pool. all participants completed a baseline assessment online where self-reported data was collected on demographics, dating violence (during the past month), emotion regulation, mindfulness skills, and other potential covariates. participants were then randomized into either the mbst intervention or the psychoeducational intervention. all participants completed three 50-minute sessions over the course of three weeks with assigned homework between sessions. daily diary data was collected, assessing knowledge and use of skills learned in the sessions. follow-up data was collected online 11 weeks following baseline (dating violence (during the last month), emotion regulation, mindfulness skills). it was hypothesized that the mbst intervention would be more effective at reducing dating violence as compared to the psychoeducational intervention.


Eligibility criteria:
inclusion criteria: * in a current dating relationship (of 6 months or longer) exclusion criteria: * diagnosed with psychopathology (major depressive disorder, post-traumatic stress disorder, borderline personality disorder)

Keywords: dating aggression emotion regulation mindfulness mindfulness-based skills romantic relationships dating relationships
optimization of mother-child dyad follow-up by a multidomain application: real-world cross sectional study

Conditions: Child Development Disorder; Post Partum Depression

Summary: after birth, the mother-child dyad can be impacted by issues which are usually under-detected or detected at early stage. among these issues, neurodevelopmental disorders (ndd) such as autism spectrum disorder are common and affect 1 in 59 children but are detected after 4 years of age although it could be detected using parent report screens as early as 12 or 18 months of age. moreover, parents are the main contributors of the screening of ndd in their children. in a recent french survey, the identification of the first symptoms was done by parents in 61% of cases and a health professional in only 14% and the mean age of disease detection was 6.8 years for autism spectrum disorder. other troubles that deserve early screening are hearing disorders which are observed in 1 child in 300 at 3 years of age and the main visual trouble in toddlers such as amblyopia which is observed with a prevalence of 3%. another issue that deserves improvement is the rate of mandatory or recommended vaccines in toddler which is only 71% for c-meningococcus and 79% for measles or rubella. concerning the mother, postnatal depression is defined as an episode of minor or major depression occurring during the first year postpartum with a pooled prevalence of 17.7%. despite the high prevalence of this disorder and its potential impact on child development it remains underdetected and undertreated in daily practice. the common point between all these disorders is that they can benefit from early detection by questionnaires intended for parents for their children or for themselves, because early treatment improves prognosis or prevent diseases. an "all-in-one" multi-domain familial digital health record patient reported outcomes application has been developing to help for early screening of neurodevelopmental disorders of toddler after birth to 3 years of age and mother's postnatal depression, to improve vaccinations rate of toddlers and to provide advice to parents for child development. the aim of the study is to assess in a real-world data-based the performances of this application.


Eligibility criteria:
inclusion criteria: * parent of child or more under 3 years of age * user of application malo exclusion criteria: * parent of a child who has already been diagnosed with a developmental disorder, known physical or mental disability
incidence of hemidiaphragmatic paralysis after usg guided low dose interscalene brachial plexus block

Conditions: Respiratory Insufficiency

Summary: to put a catheter in interscalene brachial plexus usg guided and give a bolus of drug followed by 24 hours continous infusion of drug

to put a catheter in interscalene brachial plexus usg guided and give a bolus of drug followed by 24 hours continous infusion of drug. to see hemidiaphragmatic paralysis by seeing diaphragmatic excursion on m mode usg subcostal approach, to see post operative pain, patient satisfaction score, complications if any

Eligibility criteria:
inclusion criteria: * patients aged 18-65 years and belonging to asa grade i, ii, iii, undergoing either, shoulder surgery, (rotator cuff repair, acromioplasty, hemiarthroplasty, and total shoulder replacement) or surgery for proximal humerus fracture will be recruited for the study. exclusion criteria: * a) patient refusal for interscalene block b) severe respiratory disease (fev1/fvc \<0.7 and fev1 \< 80% of predicted) c) allergy to amide local anaesthetic drugs d) chronic opioid therapy e) patients who cannot understand how to operate pca and vas
health smart (stress management and relaxation training)

Conditions: Breast Cancer

Summary: the study will examine the effects of a cognitive behavioral stress management (cbsm) group intervention on antibody and cellular immune function among women who are at elevated risk for breast cancer because of family history. hypothesis 1: women who participate in the cbsm intervention will have a larger primary and secondary antibody response to ha vaccine compared to women in the comparison group. hypothesis 2: in response to stimulation with ha antigen, lymphocytes from women who participate in the cbsm intervention will have larger primary and secondary in-vitro proliferative response to ha antigen, and increased primary and secondary in-vitro th1 cytokine response to ha antigen compared to lymphocytes from women in the comparison group. hypothesis 3: women who participate in the 10-week cbsm group intervention will report lower levels of distress immediately after the intervention compared to women in the comparison group. changes in distress as a result of the intervention will be associated with any significant changes in immune function discovered in aims 1 and 2.

cancer vaccines are emerging as important tools for cancer treatment and prevention. unfortunately, the cohorts that ultimately will benefit most from the vaccines, those at elevated risk for cancer, are likely to be stressed. chronic stress can impair immune function, including immune response to vaccines. an inadequate response to vaccines can weaken their protective effect. women at elevated risk for breast cancer can experience significant levels of distress and have associated immune function decrements. interventions to treat distress-related immune decrements among these women are needed because these women will be among the first candidates for breast cancer vaccines. in theory, stress-management interventions should improve immune function and response to vaccines; however, the findings to date are mixed. the proposed investigation will conduct an exploratory randomized clinical trial to collect preliminary data on the efficacy of a cognitive behavioral stress management (cbsm) group intervention among women who are at elevated risk for breast cancer because of family history and who are reporting elevated levels of distress. study outcomes will include antibody and cellular immune response to hepatitis a vaccine and self-reported distress.

Eligibility criteria:
inclusion criteria: * family history of breast cancer * fluent in english * working phone and address * plan to live in the area for one year * reporting elevated levels of distress at screening. exclusion criteria: * prior cancer diagnosis (except non-melanoma skin cancer) * current major depressive episode * history of bipolar disorder or schizophrenia * history of autoimmune disease * history of hepatitis a or ha vaccination * use of immune modulating drugs (e.g. corticosteroids, antihistamines), nicotine, or \> 3 drinks/ day alcohol

Keywords: immune response to vaccines stress management perceived risk for breast cancer