Kornimate/medical-research-clean huggingface dataset:
follow-up of children with gastrointestinal malformations and postnatal surgery

Conditions: Digestive System Abnormalities

Summary: the aim of this single center study is to measure the impact of standardized neonatal pediatric surgeries due to gastrointestinal malformations on the children's motor and cognitive development and psycho-emotional competence. to measure the neurodevelopment, the children will be tested with the bayley scales of infant development ii assessment.

objectives: the primary objective of this study is to compare differences in the score of bayley scales of infant development ii assessment (consisting of cognitive, verbal, nonverbal, motor development levels) between children with gastrointestinal malformations and early postnatal surgery at the age of 2 years and a control group. the secondary objective is to measure the growth of the patients compared to healthy children in the control group, to capture post-traumatic stress situations in families, and to capture the children's psycho-emotional competence. study design: the study is designed as a cross-sectional single center study. the study patients are children of 2 years of age who underwent neonatal surgery in our clinic since june 2008 due to a gastrointestinal malformation. the control group consists of matched pairs concerning gestational age, weight and gender. the study consists of five parts: * introductory interview including the medical history * bayley scales of infant development ii assessment * pediatric examination with anthropometry * questionnaire survey of post-traumatic stress situation * final conversation with the parents about the results the neurodevelopmental testing is performed by the child psychologist and the pediatric examination by the pediatrician. study population: the study is purely exploratory and based on the number of patients born in our hospital with the malformations mentioned above (approximately 40). each patient is compared against a healthy child of the same gestational age, weight class and gender (control group).

Eligibility criteria:
inclusion criteria: patients: * at follow-up between 18 and 36 months of age * at birth a gastrointestinal malformation * postnatal surgery * no other serious malformations * no serious complications of birth (e.g. asphyxia) * \> = 33. week of gestation at birth * follow-up appointment when not acutely ill * parental consent healthy individuals: * at follow-up between 18 and 36 months of age * uncomplicated postnatal period * no malformations * no surgery until follow-up appointment * \> = 33. week of gestation at birth * follow-up appointment when not acutely ill * parental consent exclusion criteria (both groups): * absence of parental consent

Keywords: congenital abnormalities digestive system abnormalities neonatal surgery neonatal anesthesia bayley scales of infant development ii
genetic testing in autosomal dominant polycystic kidney disease

Conditions: ADPKD

Summary: individuals with a diagnosis of autosomal dominant polycystic kidney disease (adpkd) often have a family history of the condition although up to 10-15% of cases are sporadic mutations. the investigators recently conducted an analysis of the investigators clinic population to determine percentages of individuals who have undergone kidney imaging and genetic testing and determined total numbers of patients eligible for tolvaptan and those currently active on tolvaptan. the study team found large racial discrepancies in usage of tolvaptan and found that more patients are eligible for tolvaptan than are currently taking the medication. reasons for this are often due to patient perception about the medication rather than treatment failure. there is a strong medical need to understand reasons for underuse of this critical medication in this population. among those with genetic testing, the study team found large disparities in ethnic background between individuals offered genetic testing who accept versus decline testing. the study team also found that those who choose to pursue genetic testing are more likely to have no family history of the condition, presumably because the diagnosis is more "surprising" to them and thus desire for verification by genetic testing, if possible, is greater. however, it is known that genetic testing can be an important component of understanding of disease biology in all patients with adpkd, while also providing important clinical information in some cases as individuals prepare for living donor transplantation or family planning. the investigators seek to understand barriers to use of tolvaptan and genetic testing among individuals in the clinic population and their relatives across a wide range of racial and ethnic backgrounds. the investigators hypothesize that anxiety about genetic conditions in particular is a barrier to accepting testing. the investigators seek to understand the mental health aspects of the diagnosis of adpkd. they will also evaluate changes in symptoms compared to pre-treatment after initiation of tolvaptan in eligible individuals using qualitative techniques. in so doing, the study team hope to improve care for current patients and also to expand the pool of the clinic population to include newly diagnosed family members ideally at early stages of disease.


Eligibility criteria:
inclusion criteria: * diagnosis of adpkd exclusion criteria: -
pharmacokinetics and pharmacodynamics of different nicotine salt concentration vape system pods and free-base nicotine

Conditions: Nicotine Dependence

Summary: comparison of the pharmacokinetics and pharmacodynamics of two different nicotine salt concentrations and free-base nicotine using an open vape pod system

on each study day, one puff will be taken with the assigned product every 30 seconds (total of 10 puffs). blood samples will be collected to measure nicotine 15 minutes before vaping and 2, 5, 15, 30, 60, 120, and 180 minutes after the last puff. heart rate and blood pressure will be measured 15 minutes before and 2, 10, 15, 30, 60, 120, and 180 minutes after the last puff. post-use withdrawal, craving, reward, and satisfaction will be assessed 10 minutes and 1 and 3 hours after the last puff using the modified minnesota nicotine withdrawal scale (mnws), the tiffany questionnaire on smoking urges (qsu), and the positive and negative affect schedule (panas) questionnaires. respiratory symptoms will be assessed at baseline and 5 minutes after the last puff. ten minutes post-use, the direct effects of the assigned product (e.g. satisfying, calming, pleasant, vape another one right now) will also be assessed using visual analog scales.

Eligibility criteria:
inclusion criteria: * men or women, age 18 or older at screening, who have used electronic cigarettes and/or smoked at least 5 cigarettes per day in the past 30 days * saliva cotinine of \> 50 ng/ml at screening * no clinically significant findings on the physical examination at screening * ability to communicate well with the investigator and to understand and comply with the requirements of the study * women of child-bearing age: willingness of using a reliable contraception method during the study * signed informed consent exclusion criteria: * known hypersensitivity/allergy to a content of the e-liquid * pregnancy or breast feeding * bmi \ 28 kg/m2 at screening * history or clinical evidence of alcoholism or drug abuse within the 3-year period prior to screening * loss of ≥ 250 ml of blood within 3 months prior to screening, including blood donation * treatment with an investigational drug within 30 days prior to screening * treatment with prescribed or over-the-counter (otc) medications with potential influence on cyp2a6 function within 1 week prior to screening (with the exception of contraception) * history or clinical evidence of any disease (e.g. gastrointestinal tract-disease) and/or existence of any surgical or medical condition, which in the opinion of the investigator might interfere with the absorption, distribution, metabolism or excretion of the study drugs, or which might increase the risk for toxicity * legal incapacity or limited legal capacity at screening * any circumstances or conditions, which, in the opinion of the investigator, may affect full participation in the study or compliance with the protocol

Keywords: nicotine pharmacokinetics pharmacodynamics
reverse total shoulder arthroplasty: a data analysis on patients undergoing reverse total shoulder arthroplasty

Conditions: Osteo Arthritis Shoulders; Proximal Humeral Fracture; Rotator Cuff Tear; Rotator Cuff Tear Arthropathy

Summary: the purpose of this study is to evaluate reverse total shoulder arthroplasty patients preoperative objective measurements and operative objective measurements to determine if there is any effect to postoperative outcomes. patients who were 18 years old or greater at the time of surgery were followed clinically and radiographically to determine best practice and optimal treatment and technique, risk and rate of complication, and postoperative outcomes.


Eligibility criteria:
inclusion criteria: 1. english speaking 2. \>18 years of age 3. reverse tsa performed by principal investigator exclusion criteria: 1. non-english speaking 2. \<18 years of age
johns hopkins crohn's disease and ulcerative colitis study

Conditions: Inflammatory Bowel Disease

Summary: inflammatory bowel disease (ibd), including crohn's disease (cd) and ulcerative colitis (uc), is a idiopathic, chronic and frequently disabling inflammatory disorder of the intestines characterized by a dysregulated mucosal immune response that affect more than a million americans. this current protocol was established in 1996 with the goal of identifying the genetic and environmental components that contribute to the development of ibd, especially in families.

we initiated this research study in 1996 with the overall goal of identifying ibd susceptibility genes. in the beginning, our major focus was recruitment of multiply affected ibd pedigrees for linkage studies, but we have since expanded our study to include singleton cases and spousal/friend as well as population controls for comparison purposes our recruitment goal is 2500 subjects. blood samples obtained from participants are used to isolate lymphocytes for storage, serum for serological analysis of antibodies and other proteins relevant to ibd and dna for genotyping or sequencing. lymphocytes may be transformed with ebv to establish immortalized lymphoblastoid cell lines. these cell lines can be used as a secondary dna source or to study ibd relevant gene, protein expression and cell function

Eligibility criteria:
inclusion criteria: adults: * patients with ibd and their family members who have or do not have ibd. * people that do not have ibd nor have a family member with ibd needed for comparison purposes. children: * children age 5 or older with ibd and their family members who have or do not have ibd. * children that do not have ibd nor have a family member with ibd needed for comparison purposes. exclusion criteria: * the only exclusions are age parameters and health reasons that would preclude their enrollment; such as, for anemic patients. blood-draws on anemic patients may, in certain medical cases, pose a health risk to them; therefore, we request that if they are anemic that they present a letter from their personal physician giving explicit permission for them to join if at the time it is clinically advisable.

Keywords: inflammatory bowel disease crohn's disease ulcerative colitis indeterminate colitis ibd cd uc ic
informed consent formats by information preference and priority

Conditions: Consent Forms; Asthma

Summary: this study will test whether different formats of medical informed consent documents can help improve understanding and confidence in decision-making for clinical trials. the study will be primarily run through an online survey.

the goal of this study is to investigate whether the same information can be communicated in different formats of an informed consent document in ways that improve participant understanding and confidence. participants will review one of several different versions of the same informed consent document, and will be asked to complete a survey after reading the documents. the survey will ask participants their willingness to enroll in the clinical trial discussed in the document and their confidence in their decision. the survey will also test participants recollection of information from the informed consent document. researchers will look at this data to see if there are ways to improve knowledge about the clinical trial and confidence in decisions without necessarily changing enrollment preferences.

Eligibility criteria:
inclusion criteria: * 18 years old or older * read and agreed to informed consent * indicated desire to participate * diagnosed with asthma * us resident exclusion criteria: * participants from whom we receive multiple responses will be dropped from analysis (but will be compensated for participation)

Keywords: informed consent
evaluation of an orally administered medication when taken in conjunction with pramlintide

Conditions: Diabetes Mellitus, Non-Insulin-Dependent

Summary: this is a randomized, single-blind, placebo-controlled, crossover study to examine the effect of pramlintide on the pharmacokinetics of an orally administered medication


Eligibility criteria:
inclusion criteria: * type 2 diabetes mellitus treated with diet and/or oral agents * hba1c 6.5-11.0

Keywords: diabetes mellitus, type 2
bryostatin 1 in treating patients with relapsed multiple myeloma

Conditions: Multiple Myeloma and Plasma Cell Neoplasm

Summary: rationale: drugs used in chemotherapy use different ways to stop tumor cells from dividing so they stop growing or die. purpose: phase ii trial to study the effectiveness of bryostatin 1 in treating patients with relapsed multiple myeloma.

objectives: i. determine the efficacy of bryostatin 1 administered as a 72-hour continuous infusion in patients with relapsed multiple myeloma. ii. determine the qualitative and quantitative toxic effects of bryostatin 1 in these patients. iii. determine the duration of response and survival following bryostatin 1 in these patients. outline: all patients receive bryostatin 1 by 72-hour continuous infusion every 2 weeks until disease progression or 2 courses beyond complete remission. response is assessed after every 4 courses. patients are followed for survival. projected accrual: a total of 15-25 evaluable patients will be entered into this study over 1.25 years.

Eligibility criteria:
disease characteristics: multiple myeloma of any stage that has failed 1 or 2 prior regimens (chemotherapy, biologic therapy, or both, or bone marrow transplantation) evidence of disease progression required ineligible for known treatment of higher potential efficacy one of the following protein criteria required: quantifiable m-components of igg, iga, igd, or ige urinary kappa or lambda light chain (bence-jones protein) excretion re-treatment on this protocol allowed if disease relapsed after a complete remission patient characteristics: age: 18 and over performance status: zubrod 0-2 life expectancy: at least 12 weeks hematopoietic: absolute neutrophil count greater than 1,500/mm3 platelet count greater than 50,000/mm3 hepatic: bilirubin less than 1.5 mg/dl transaminases less than 2.5 times normal renal: creatinine no greater than 1.5 mg/dl or creatinine clearance at least 60 ml/min cardiovascular: no history of impaired cardiac status, e.g.: severe coronary artery disease cardiomyopathy congestive heart failure arrhythmia other: no known aids or hiv infection no second malignancy within 5 years except: adequately treated nonmelanomatous skin cancer carcinoma in situ of the cervix no pregnant or nursing women effective contraception required of fertile patients during and for 2 months after study prior concurrent therapy: biologic therapy: see disease characteristics chemotherapy: see disease characteristics at least 4 weeks since chemotherapy (8 weeks since mitomycin or nitrosoureas) and recovered endocrine therapy: no concurrent steroids radiotherapy: at least 4 weeks since radiotherapy and recovered surgery: not specified

Keywords: refractory multiple myeloma
characterization of different phenotypes of microvascular dysfunction and their impact on angina severity in patients with chronic angina in the absence of obstructive coronary artery disease.

Conditions: Angina CCS Classe II-IV - IMR, RFR, FFR,CFR

Summary: the aim of the present study will be to identify different phenotypes of microvascular dysfunction and their associations with the severity of anginal symptoms assessed through the seattle angina questionnaire(saq-7).

after administration of unfractionated heparin (100ui/kg), a special pressure guide (pressure wire x, abbott), equipped with a distal sensor capable of measuring pressure and temperature, will be introduced inside the anterior descending branch (iva) of the left coronary artery and hyperemia will be induced by intravenous infusion of adenosine. the imr will be calculated using the thermodilution technique, and is given by the product between the mean distal pressure, in the left anterior descending coronary artery, and the mean transit time (tmn) during maximal hyperemia. during the procedure, additional coronary physiological indices will be calculated such as: * quiescent full cycle flow ratio (rfr), - fractional flow reserve (ffr), * coronary flow reserve (cfr) in order to identify different phenotypes of microvascular dysfunction, as follows: * phenotype a: patients with imr\>25, cfr \ 0.80 (concordant pure-microvascular pathological results) * phenotype b: patients with imr\>25, cfr\>2 and ffr\>0.80 (increased microvascular hyperemic resistance, maintenance of microvascular reactivity) * phenotype c: patients with imr 25, cfr 2 and ffr\>0.80 (normal hyperemic resistance and reduced reactivity) all these phenotypes can also be combined with pathological ffr measures (\<0.80) (phenotypes a1, b1, c1).

Eligibility criteria:
inclusion criteria: patients who meet all of the following criteria will be considered for study participation: age ≥18 and \<85 years. chronic coronary syndrome (including patients with anginal equivalents) angina ccs class ii-iv evidence of inducible reversible ischemia in noninvasive trials availability of the following measurements: * microvascular resistance index (imr) * quiescent full cycle flow ratio (rfr), * fractional flow reserve (ffr), * coronary flow reserve (cfr) willingness to participate and sign the informed consent document prior to the procedure. exclusion criteria: at least one of the following: pregnancy or breastfeeding. medical or psychological conditions that would compromise proper and orderly participation. left ejection fraction less than 30% prior coronary artery bypass surgery (cabg) decompensated congestive heart failure (chf) chronic or acute renal failure with creatinine \>2mg/dl severe valve disease patients with comorbidities limiting life expectancy to less than one year.

Keywords: ccs imr, rfr, ffr,cfr
next generation sequencing (ngs) in familial acute myeloid leukemia and myelodisplastic syndromes

Conditions: Leukemia

Summary: the aim of this study is to look for predisposing mutations in patients and relatives affected by aml and mds with familial history of myeloid or, less frequently, lymphoid malignancies. taking advantage of a next generation sequencing (ngs) platform, screening for known and unknown mutations potentially associated with the disease will be done. the screening will be performed on affected and unaffected family members, in order to outline new pedigrees that either validate previous findings or constitute novel discoveries.

patients with a diagnosis of aml or mds with at least one relative affected by al/mds or, secondly, lymphoproliferative disorders, will be enrolled into the study, and will be referred to as the index case. the analysis will be performed both retrospectively and prospectively. a gene panel deep sequencing (gpds) of the tumor dna from peripheral blood of the index case at diagnosis will be performed in order to identify mutations in a number of genes known to be associated to myeloid malignancies, mainly: asxl1, bcor, nras, tp53, runx1, cebpa, flt3, ezh2, idh1, idh2, npm1, dnmt3a, tet2, cbl, kras, etv6, sf3b1, srsf2, u2af1, zrsr2, gata2, tert, terc, srp72, and ankrd26. in case none of the known mutations is found by the gpds, whole exome sequencing (wes) will be performed as second step on the tumor cells of the index case. when one or multiple somatic mutations are found, a sanger sequencing (ss) on germline dna from epithelial buccal cells of the index cases and affected relatives will be performed for the screening of the same somatic leukemic mutations on germline dna. if the index case and affected relatives share the same mutations on the germline, the same germline mutations will be checked by ss in the unaffected family members.

Eligibility criteria:
inclusion criteria: any patient with acute myeloid leukemia (aml) or myelodisplastic syndrome (mds) with: 1. a first- or second-degree relative with acute leukemia or mds or other myeloid malignancies 2. a first- or second-degree relative with lymphoproliferative neoplasms 3. or with clinical features that resemble one of the familial mds/aml predisposition syndromes: * history of thrombocytopenia and/or a clinical bleeding propensity (as in runx1, ankrd26 or etv6 germline mutations) * abnormal nails or skin pigmentation, oral leukoplakia, idiopathic pulmonary fibrosis, unexplained liver disease (as in tert and terc germline mutations) * lymphedema, atypical infections, immune deficiencies (as in gata2 germline mutations) exclusion criteria: 1. any diagnosis other than acute myeloid leukemia (aml) or myelodisplastic syndrome (mds); 2. acute myeloid leukemia (aml) or myelodisplastic syndrome (mds) without a first- or second-degree relative with acute leukemia or mds or other myeloid malignancies or without a first- or second-degree relative with lymphoproliferative neoplasms or with clinical features that resemble one of the familial mds/aml predisposition syndromes; 3. unability to sign the informed consent
home parenteral nutrition (hpn) families' mobile distance connections to care research

Conditions: Short Bowel Syndrome; Malabsorption; Malnutrition

Summary: the purpose of this study is to test mobile technologies in assisting patients \& family caregivers in healthy living and complex home care by connecting to information and professionals from a distance.

hpn (home parenteral nutrition) families with tpn (total parenteral nutrition) users are typically geographically distant from one another (peers) as well as professional providers. real-time mobile access to health related information, peer and professional support will be tested in this study.

Eligibility criteria:
inclusion criteria: * 13 years or older total parenteral nutrition (tpn) patients/users and family members/caregivers (defined as those individuals involved in daily home hpn care) * tpn users (also called hpn users) must be receiving intravenous nutrition for a non-malignant short bowel disorder * read, write, speak english and provide informed consent * be able to participate in group clinic visits exclusion criteria: * enteral nutrition dependency only * less than 13 years of age * 13 through 17 years of age without parental consent * currently enrolled in an intervention study or hpn management program * severe cognitive impairment * disability disorders (e.g. blindness which cannot be accommodated for active participation in the group clinics

Keywords: short bowel disorder short bowel syndrome home parenteral nutrition hpn total parenteral nutrition tpn telehealth telemedicine