Kornimate/medical-research-clean huggingface dataset:
metabolomics of children with sma

Conditions: Spinal Muscular Atrophy

Summary: the aim of the proposed project is to evaluate whether the metabolome of patients with spinal muscular atrophy (sma) before the initiation of treatment with nusinersen differs from the metabolome of healthy individuals and whether it changes 14 months after treatment with nusinersen.

spinal muscular atrophy (sma) is a severe, debilitating disease and is an important source of morbidity and mortality of children. novel disease modifying therapies can alter the natural course of the disease. however, many aspects of their action remain unknown. metabolomics is the large-scale study of metabolites, within cells, biofluids, tissues or organisms. collectively, these small molecules and their interactions within a biological system are known as the metabolome. the aim of this study is to evaluate whether the metabolome of patients with sma before the initiation of disease modifying therapy with nusinersen differs from the metabolome of healthy individuals. next, we would like to asses whether tretament with nusinersen alters the metabolome of patients with sma. utilizing metabolomics, we would like to assess whether we can identify parameters reflecting the state of the disease in a particular patient, and parameters with diagnostic and/or prognostic value. using metabolomics, we will aim to identify sma patients that will positively respond to gene therapy.

Eligibility criteria:
inclusion criteria: * genetically confirmed sma * age up to 21 years exclusion criteria: * none

Keywords: spinal muscular atrophy, nusinersen, metabolome
prediction of migraine prevention efficacy based on individual's pain modulation

Conditions: Migraine; Preventive Treatment

Summary: a major reason for the substantial underuse of pharmacological prevention of migraine is its inadequate efficacy, since only \~50% of patients respond to a specific agent. there is currently no evidence-based way to identify the patients that will respond to a specific preventive treatment. amitriptyline is one of the commonest agents used for migraine prevention, strengthening patient's pain inhibitory capacity. individual tailoring of analgesics according to pain inhibitory capacity has been shown effective by our group for painful diabetic neuropathy patients. specifically, patients with reduced pain inhibition capacity gained more from a drug that augment pain inhibition as compared to those with efficient inhibitory capacity. the investigators now propose to assess migraineurs for their pain inhibition capacity, and examine whether, along similar reasoning, those with reduced inhibitory capacity are the ones more likely to respond to amitriptyline. psychophysical and neurophysiological dimensions of pain inhibitory modulation will be assessed in migraineurs, who will, subsequently, receive either amitriptyline or placebo for 8 weeks, in a randomized two arms parallel double blind design, and followed up for attacks reduction. the investigators expect to identify the best predictors for efficacy of migraine prevention by the study drug. this approach will promote individualization of migraine therapy.


Eligibility criteria:
inclusion criteria: * age \>18 * premenopausal * meeting the international headache society criteria for migraine * having \>4 attacks or days of migraine/month exclusion criteria: * baseline month diary indicating lower frequency of migraine * chronic migraine (\>15 days of headache per month) * use of migraine preventive treatment during previous 3 month * language barrier or cognitive dysfunction

Keywords: migraine amitriptyline pain modulation pain psychophysics pain neurophysiology preventive treatment
systematic wide-field emr scar assessment and therapy audit

Conditions: Polyps

Summary: the development of a standardised imaging protocol to detect post endoscopic mucosal resection (emr) recurrence or residual adenoma through the comparison of biopsies of the post emr scar with endoscopic findings.

removal of colonic polyps reduces colon cancer and although most polyps found are small, removal of large polyps can now be safely and effectively removed with wide field emr. residual polyp tissue is found at follow up colonoscopy in approximately 15% of cases however and remains a focus of attempts to improve emr efficacy. all patients undergoing surveillance colonoscopy after emr at westmead hospital endoscopy unit will have steps of assessment and therapy of the scar recorded. data will be entered into the large prospective audit database and also analysed separately. data will be stored in coded format. the individual steps and the outcome of the scar interrogation and therapy will also be assessed and analysed. it is expected that these results will help guide the optimal approach to assessment and confirm the efficacy of therapy of recurrence further aiding the endoscopic approach to large colonic polyps.

Eligibility criteria:
inclusion criteria: * patients undergoing surveillance colonoscopy of a previously resected large sessile colonic polyp or laterally spreading tumour ≥20mm in size. * age \> 18 years * able to give informed consent to involvement in the clinical study exclusion criteria: * unable to provide informed consent for involvement
kinase genotyping of gastro intestinal stomach tumors (gists) from patients enrolled in pfizer a6181112 phase iiib trial

Conditions: Gastrointestinal Neoplasm

Summary: the purpose of this study is to determine the genetic makeup of gastro intestinal stomach tumors (gists) from patients enrolled in the a6181112 phase iiib trial. tumor samples will be screened for mutations and this information will be used to determine whether the progression-free survival of patients being treated with the cancer medication sunitinib is related to the underlying genotype of their gist.

in this companion study, we will analyze the genomic dna from the gist tumor specimens of patients enrolled in the in the a6181112 phase iiib trial at participating u.s. and ex-u.s. medical centers. specifically, gist samples will be screened for mutations in kit gene exons 9, 11, 13 and 17, and pdgfra gene exons 12, 14 and 18, to determine the primary kinase genotype. subset analyses will be performed and compared with the overall pfs rates observed in patients with primary and secondary imatinib resistance. based on data from a previous phase i/ii trial, our hypothesis is that patients with either primary or secondary imatinib resistance having a kit exon 9-mutant or wt gist will have a longer pfs when treated with sunitinib than patients with exon 11-mutant gist. we further hypothesize that this difference will be observed among patients treated with high-dose imatinib.

Eligibility criteria:
inclusion criteria: * patients enrolled in pfizer a6181112 exclusion criteria: * patients who do not consent for analysis of their tumor in this companion study

Keywords: gastrointestinal stromal tumor gist sunitinib imatinib
familial pancreatic cancer prophilation program in italy

Conditions: Candidates for Hereditary Pancreatic Cancer Testing

Summary: the goal of the proph-ita study is to perform genetic testing in family members of pancreatic cancer patients who may have a genetic predisposition. the subjects belong to the italian registry of families at risk of pancreatic cancer (irfarpc, #nct04095195). this investigational study will assess the genetic background of subjects with familiarity with pancreatic cancer only. participants may accept to undergo genetic testing as part of the irfarpc registry, through a saliva-swab-based 41-gene panel test. up to 3,000 participants will be enrolled in this study.


Eligibility criteria:
inclusion criteria: * being enrolled on the irfarpc registry * having familiarity for pancreatic cancer (according to the irfarpc criteria, capurso et al. dig liv dis, 2020) * willingness to participate in saliva-swab-based genetic testing exclusion criteria: - already known genetic mutation

Keywords: pancreatic cancer pancreatic cancer familiarity genetic profiling genetic predisposition pancreatic cancer surveillance
using 32 - gauge needles with lengths of 5 mm and 8 mm on pain post-injection, leak and blood glucose

Conditions: Diabetes Mellitus, Type 2

Summary: this is a clinical crossover trial study. in this study, 100 patients with type ii diabetes will be selected based on entry and exit criteria, then randomly divided into two equal groups (group "a" and group "b").in the first three days of the first week of hospitalization, in group "a" insulin injection with a 90-degree angle and using nidel 32-gauge with a length of 5 mm, and in the other group insulin injection with a 90-degree angle and using nidel 32-gauge with a length of 8 mm will be done. after a one-day break, in another three days, the types of needles used in the two groups are moved together. after a one-day break, in another three days, the types of needles used in the two groups are replaced together. then the vas scale will be used to assess post-injection pain; the amount of leakage after the injection will be measured in two ways yes/no, according to the researcher's observation. and to check the effect of needles on controlling patients' blood sugar, their blood sugar levels will be measured based on the routine of hospital units.

this is a clinical crossover trial study. in this study, 100 patients with type ii diabetes will be selected based on entry and exit criteria, then randomly divided into two equal groups (group "a" and group "b").in the first three days of the first week of hospitalization, in group "a" insulin injection with a 90-degree angle and using nidel 32-gauge with a length of 5 mm, and in the other group insulin injection with a 90-degree angle and using nidel 32-gauge with a length of 8 mm will be done. after a one-day break, in another three days, the types of needles used in the two groups are moved together. after a one-day break, in another three days, the types of needles used in the two groups are replaced together. then the vas scale will be used to assess post-injection pain; the amount of leakage after the injection will be measured in two ways yes/no, according to the researcher's observation. and to check the effect of needles on controlling patients' blood sugar, their blood sugar levels will be measured based on the routine of hospital units. after entering the data in spss20 software, the collected data will be analyzed using descriptive statistics (frequency, percentage, mean, standard deviation) and statistical tests (t-test, chi-square).

Eligibility criteria:
inclusion criteria: * having type ii diabetes * use injectable insulin for at least two years * bmi \>18 * lack of mental illness and mental retardation * use insulin pen exclusion criteria: * lack of desire to participate in the study * having a skin problem in the injection site

Keywords: diabetes mellitus, type 2 blood glucose pain leakage insulin injections
brown adipose tissue activation by spinal cord stimulation

Conditions: Pain, Back; Obesity, Morbid; Type 2 Diabetes

Summary: the objective of this study is to investigate and utilize spinal cord stimulation (scs) as an effective approach to eliciting weight loss and potentially alleviating type 2 diabetes mellitus (dm), as evidenced by increasing metabolism of adipose tissue.

this research study aims to investigate possible activation of brown adipose tissue (bat) metabolism by upper thoracic spinal cord stimulation (scs). we believe that our multidisciplinary research team presents a unique opportunity to test whether scs can activate bat metabolism, as tested during a routine screening procedure for spinal cord stimulation (scs) for pain control. our marker for bat activation is 18f-fluorodeoxyglucose (fdg) - positron emission tomography (pet), which has previously been used to gauge cold-evoked bat activation, and other studies of bat in humans. we believe this proof-of-concept study could pave the way for a new therapeutic modality for the treatment of morbid obesity, and type 2 diabetes mellitus.

Eligibility criteria:
inclusion criteria: 1. age: 21-70 years 2. persistent neuropathic leg and back pain 3. subjects who are already planning to undergo scs for pain 4. subjects who have not received a prior scs trial for pain 5. subjects with a bmi of 25-45, using formula; weight (lb) / \[height (in)\]2 x 703 exclusion criteria: 1. not considering scs for pain 2. forensic patient 3. taking beta blockers 4. weight change \> 5% within last 3 months 5. habitual tobacco use 6. habitual excessive alcohol use 7. pregnancy 8. decisionally impaired adults 9. children 10. neonates 11. subjects with a bmi of \ 45

Keywords: obesity diabetes
school activity for the reduction of distress, pain and negative emotions in children experiencing hospital school

Conditions: Hospital School Experience

Summary: aim of present study is to evaluate the efficacy of hospital school experience in the reduction of distress, pain and negative emotion in children from 8 to 12 years old, hospitalized in oncology and pediatric wards. investigators also want to explore the ideas and opinions of teachers and parents about hospital school service. hypothesis: the investigators expect a reduction in pain, distress and negative emotions.

the school service into the hospital was born as an attempt to support emotionally, relationally and cognitively the hospitalized children, who have to spend a lot of time alone, without being educated by teachers with their classmates. there are not many studies in the italian contest about this issue and with the present study the investigators intended to implement the acknowledgement about this theme. the principal aim of this study is to explore if the school service reduces negative emotions experienced by oncological children as well as perceived pain and distress. to evaluate this aims, the investigators organized the study in 3 sections: the first is about the emotions experienced by oncological children between 8 and 12 years old, who benefit from the school service into the hospital; the second is about their parents' opinions and believes about the hospital school service; the third is about opinions, training and educational method dedicated by hospital school teachers and not hospital school teachers (who previously thought to our oncology children sample).

Eligibility criteria:
inclusion criteria for children: * age between 8 and 12 years old * knowledge of italian language * consent for study participation * recovery * be/not be in contact with classmates (group a and group b) exclusion criteria for children: * patients who have already had hospital school experience in the past * cognitive disability * patients that cannot complete the study because of health or mental issues incoming during the period of the research inclusion criteria for hospital teachers: * italian knowledge * being a hospital teacher exclusion criteria for hospital teachers: - have earlier experience as a hospital children in other hospitals inclusion criteria for not hospital teachers: * italian knowledge * being a teacher of the hospitalized children in the past or present time exclusion criteria for not hospital teachers: * a past experience as a hospital teacher inclusion criteria for parents: * italian knowledge * consent for study participation * health or mental issues that can cause problems in completing questionnaires or answering questions exclusion criteria for parents: * cognitive disability * health or mental issues that can cause problems in completing questionnaires or answering questions

Keywords: hospital school pain distress negative emotions school continuity child
a methodology study to look at genes in lung cells and tissue from asthmatic patients

Conditions: Asthma

Summary: the primary goal of this study is to identify a gene or panel of genes which are differentially expressed in lung cells and tissue from asthmatic patients following administration of ipratropium bromide and either nebulised albuterol or saline. each subject in this study will undergo two bronchoscopies.


Eligibility criteria:
inclusion criteria: * have a history of intermittant asthma. * have asthma symptoms less than once per week. * have no other significant disease. * do not take regular oral or inhaled steroids. * are a non-smoker for the past 12 months with a pack history of less than 5 years. exclusion criteria: * have a history of drug or alcohol abuse. * have poorly controlled asthma or a history of life-threatening asthma. * have a history of hypersensitivity to bronchodilators. * are unable to abstain from inhaled steroids from 14 days prior to the first study visit until completion of the study. * have received oral steroids within 3 months of study entry. * have been hospitalized for your asthma within 3 months of study entry. * have had treatment with an investigational drug within 30 days or 5 half-lives (whichever is longer) preceding the first dose of study medication.

Keywords: asthma bronchoscopy
improving communication and building a stronger medical home among spanish-speaking families

Conditions: Leukemia; Non Hodgkin Lymphoma

Summary: this study will seek to improve communication with spanish speaking families and patients with cancer and blood disorders.

the principal investigator seeks to improve communication with spanish speaking families with the following goals: 1) to increase patient and family sense of inclusion in the medical community, 2) to increase patient and family medical knowledge and understanding, 3) to improve patient adherence with critical medical regimens, and ultimately, 4) to increase equality of comprehensive medical care delivery across the continuum of care including physical and psychosocial domains.

Eligibility criteria:
inclusion criteria: * 0 to 22 years of age * diagnosis of leukemia or non-hodgkin lymphoma * spanish as preferred language for patient, parent or guardian * received or receiving care at the center for cancer and blood disorders (ccbd) exclusion criteria: * patients without oncologic diagnosis * patients with parents whose language preference is english * patients who received care solely outside of the ccbd

Keywords: spanish-speaking
health status of the patients followed for a disease of cushing in the region large-west of 1990 to 2015

Conditions: Cushing Disease

Summary: cushing's disease is a rare disease that can reduce patients' expectations or quality of life, and for which predictive factors for cardiovascular mortality and recurrence are not well defined. the primary objective is to determine the rates of remission and recurrence of patients with cushing's disease diagnosed between 1990 and 2015 in the french region of the west (angers, brest, nantes, rennes, poitiers , tours) focusing on remission particularly at two periods : that after the first pituitary surgery and that on the day of the last news. the secondary objective is to study the possible prediction of clinical and biological data perioperative of remission and recurrence during follow-up.

investigators are interested in the prevalence of complications of the pathology (cardiovascular, metabolic, neuropsychological, infectious, rheumatological, etc.) within this cohort, the mortality rate, the rate of remission and recurrence and the quality of life history using the history of patient illness and a questionnaire. all patients over the age of 18 years at the time of inclusion, formerly or currently being monitored for cushing's disease diagnosed between january 1, 1990 and december 31, 2015, in one of the six university centers in the west part of france can be included.

Eligibility criteria:
inclusion criteria: * patients over the age of 18 at inclusion, * formerly or currently being followed for cushing's disease diagnosed between 1 january 1990 and 31 december 2015 in one of the six university centers in the french west. exclusion criteria: * minor patients, * patients with a pathologic analysis in favor of a mixed secretion adenoma (positive immunohistochemical analysis for acth and another hormone of the anterior pituitary). * patients who have undergone a pathologic diagnosis of "adenoma to acth" without clinical-biological cushing syndrome, ie silent adenoma
a parallel-group active comparator, double-blind, multicenter, randomized, double-blind, phase iii clinical study

Conditions: Knee Osteoarthritis

Summary: a multicenter, randomized, double-blind, parallel-group, placebo-controlled, and active-drug, 12-week, multicenter clinical study. participants will be randomized 2: 2: 1 to receive the combination of glucosamine sulfate + meloxicam (experimental group), combination of glucosamine sulfate + chondroitin sulfate (active control group) or placebo.

a multicenter, randomized, double-blind, parallel-group, placebo-controlled, and active-drug, 12-week treatment period, phase 3 comparative clinical study. participants will be randomized 2:2:1 to receive the combination of glucosamine sulfate + meloxicam (experimental group), combination of glucosamine sulfate + chondroitin sulfate (active control group) or placebo.

Eligibility criteria:
inclusion criteria: 1. age of 40 to 75 years (both inclusive). 2. clinical and radiological diagnosis of primary (idiopathic) knee osteoarthritis according to the american college of rheumatology (acr) criteria. 3. radiological classification of kellgren and lawrence of grades 2 or 3 on x-ray of the target knee. 4. presence of painful symptoms in the target knee in the last 3 months due to osteoarthritis. 5. visual analogue scale for evaluation of knee osteoarthritis pain by the research participant ≥ 40 mm at the screening visit. 6. mean score ≥ 40mm on the "pain" subscale (0 to 100mm) on the target knee of the western ontario and mcmaster universities osteoarthritis index (womac) questionnaire at the randomization visit. 7. acr functional class from i to iii. 8. signature of the informed consent form before performing any study procedure. exclusion criteria: 1. diagnosis of septic arthritis, inflammatory arthritis (such as rheumatoid arthritis), gout, pseudogout, paget's disease, dysplasias or congenital articular anomalies. 2. severe joint misalignment in the target knee, defined by the researcher. 3. history of severe trauma or surgery (including arthroscopy) in the target knee within 6 months prior to the study selection visit. 4. symptomatic osteoarthritis of the ipsilateral hip. 5. use of non-steroidal anti-inflammatory, dipyrone, opioid or narcotic analgesics, collagen and herbal remedies for osteoarthritis from the screening visit, or a washout period for such drugs less than those defined by the protocol, prior to the visit randomization. the use of antidepressants and pain modulating medicinal products should not be started from the screening visit, but they should be kept stable during the study if they are already being used prior to the screening visit. 6. oral, intravenous or intramuscular corticosteroid therapy within 30 days prior to study visit visit. 7. intra-articular injection of corticosteroids, hyaluronic acid and / or platelet-rich plasma at the target knee within 6 months prior to the study selection visit.