Kornimate/medical-research-clean huggingface dataset:
clinical study of a single ciliopathy: alström syndrome

Conditions: Alström Syndrome (ALMS)

Summary: the aim of the study is to characterize the clinical manifestations of alms within the ciliopathies to prevent complications and determine preventive and therapeutic targets. the investigators believe that the clinical consequences of mutations in the gene result alms1 unprecedented protests and the alms study should help to be informed, not only about the understanding and decision support other ciliopathies, but also about some common diseases, as some physiopathogenic roads could be common; the rare disease being exacerbated a model of the channel concerned. secondarily, the clinical data generated by this project will also be used as part of basic research (eg comparison with results in animal models, use of human cells for in vitro studies or transcriptomic ....) (which will be a secondary upgrading to this work).


Eligibility criteria:
inclusion criteria for patients with alström syndrome: * age\> 2 years * affiliated with a social security scheme * informed consent signed * retinal dystrophy and proved at least three diagnostic criteria alström syndrome (criteria marshall et al, 2005): * early obesity * deafness * dilated cardiomyopathy * type 2 diabetes * hypogonadism * absence of polydactyly * lack of mental retardation * a family history of the alms * mutation in the alms gene identified inclusion criteria for related of alström patients : * father / mother of a patient diagnosed with alström * age greater than 18 years * affiliated with a social security scheme * informed consent signed exclusion criteria for patients with alström syndrome: * current pregnancy (a pregnancy test is routinely performed at baseline) * pregnant or breastfeeding women * intercurrent diseases do not allow the practice exams in protocol * subject to exclusion period (determined by a previous study or a study in progress) exclusion criteria for related of alström patients : * age less than 18 years * subject to exclusion period (determined by a previous study or a study in progress)

Keywords: ciliopathy retinitis pigmentosa alms1 gene
pharyngeal airway dimensions with twinblock versus myobrace appliances in developing skeletal class ii patients

Conditions: Malocclusion, Angle Class II, Division 1

Summary: the goal of this clinical trial is to compare the pharyngeal airway changes after treatment with myobrace and after treatment with twinblock in developing skeletal class ii patients. the main question it aims to answer is: is the efficacy of the twin-block vs myobrace appliances in the improvement of pharyngeal airway dimensions in adolescents having skeletal class ii malocclusion with retrognathic mandible utilizing sagittal pharyngeal airway area measurements.


Eligibility criteria:
inclusion criteria: * healthy children * 9-12 years * skeletal class ii with mandibular defeciency and normal maxillary growth depending on clinical diagnosis and confirmed with lateral cephalometric x-reay readings ( anb angle \>4 and sna angle \<78) exclusion criteria: * previous orthodontic treatment * previous extractions * mandibular shifts * severe crowding * anterior open bite * any perioral habits

Keywords: airway myobrace twinblock
study of the causes of the breakdown of muscle fibers in hospitalized patients

Conditions: Rhabdomyolysis; Myopathy; Acute Renal Failure; Neuroleptic Malignant Syndrome

Summary: 1. analyze the various causes of breakdown of muscle fibers in hospitalized patients. 2. analyze the characteristics of these patients in taiwan (including the drugs history, risk factors and the incidence of complications).

1. find the causes of breakdown of muscle fibers in hospitalized patients through medical record review. * especially drug-related 2. find the risk factors of muscle fibers breakdown.

Eligibility criteria:
inclusion criteria: * patients who admitted to the national taiwan university hospital during 2003/1/1\~2008/12/31 with the following discharge diagnosis: myoglobinuria, rhabdomyolysis, myopathy, toxic myopathy, malignant hyperthermia, neuroleptic malignant syndrome, polymyositis, myalgia and had acute neuromuscular illness presentations and serum creatinine kinase (ck) more than 5 times the upper limit of normal (male \> 900 iu/l; female \> 835 iu/l). exclusion criteria: * patients with recent myocardial infarction or stroke, unless clinical history, examination, or electromyography showed a concomitant myopathy.

Keywords: rhabdomyolysis myopathy acute renal failure neuroleptic malignant syndrome pharmaceutical preparations hydroxymethylglutaryl-coa reductase inhibitors fibrates creatine kinase
building skill in heart failure self-care: a community based intervention

Conditions: Heart Failure

Summary: the purpose of this study is to pilot and feasibility test an innovative cognitive behavioral intervention to improve heart failure self-care among community dwelling older adults.the primary aim of this study is to test the effect of the intervention on improving heart failure self-care, knowledge and health related quality of life at 1 month and 3 months. we will test three hypotheses comparing 60 older adults with heart failure randomly assigned to either the intervention or a control group: hypothesis 1. participants in the intervention group will have significantly improved heart failure self-care than control participants. hypothesis 2. participants in the intervention group will have significantly improved knowledge about heart failure and heart failure self-care than control participants. hypothesis 3. participants in the intervention group will have significantly better health related quality of life than control participants. a secondary exploratory aim is to assess and describe implementation feasibility of providing a heart failure self-care intervention in a community group setting.


Eligibility criteria:
inclusion criteria: * diagnosis of chronic hf * able to read and speak english or spanish * over age 50 exclusion criteria: * history of prior neurological event (e.g., stroke, head injury, encephalopathy) that could cause dementia * unable to perform tests or participate in the intervention session (e.g., inability to communicate verbally, major visual impairment, or severe and uncorrected hearing loss). * living in a nursing home or other long term care facility

Keywords: heart failure self-care
cvn058 effect on mismatch negativity in schizophrenics

Conditions: Schizophrenia

Summary: this is a phase 1, double-blind, placebo-controlled, 3 period cross-over study to evaluate cvn058 target engagement by measuring auditory evoked potential mismatch negativity (mmn) downstream to 5-hydroxytryptamine receptor 3 (5-ht3) as a pharmacodynamic (pd) marker.

male and female subjects with schizophrenia, age 18 to 50 years old, inclusive, will be randomized to 1 of 6 treatment sequences (table 2.a) to receive 1 of 3 dose regimens in each period: a single oral administration of cvn058 (15 mg or 150 mg) or matching placebo. the sequence will determine the order in which a subject will take each of the 3 regimens. discontinued subjects may be replaced at the discretion of the sponsor so that approximately 20 completed subjects are available for analysis. the study includes three 1-day treatment periods, with a minimum of 7-day washout, maximum 10 day washout (2 total washouts, after periods 1 and 2) between periods, and a 7-10 day follow-up call post dosing of the last period. subjects may be inpatients or outpatients at the discretion of the investigator.

Eligibility criteria:
inclusion criteria: * subjects 18 to 50 years of age, inclusive, at the time of informed consent. * the subject weighs at least 50 kg and has a body mass index (bmi) between 18 and 40 kg/m2 inclusive at screening. * subject meets schizophrenia criteria as defined by the diagnostic \& statistical manual of mental disorders, 5th edition (dsm-v). * subjects are on a stable dose of antipsychotic medication(s) for at least 2 months prior to - screening as documented by medical history and assessed by site staff. * subject has a positive and negative syndrome scale (panss) total score of \<95. exclusion criteria: * subject currently receiving treatment with any excluded medication or dietary supplement. * subjects who have a history of gastrointestinal disease that would influence the absorption of study drug or have a history of any surgical intervention known to impact absorption (e.g., bariatric surgery or bowel resection). * subjects having clinical laboratory evaluations (including clinical chemistry, hematology and complete urinalysis) outside the reference range for the testing laboratory, unless the results are deemed to be not clinically significant (ncs) by the investigator at screening. * subjects with moderate to severe substance use disorder, unstable mood or anxiety disorder. * subject has a current diagnosis of a significant psychiatric illness other than schizophrenia per dsm-v and is in an acute phase/episode. * subject has clinically meaningful hearing loss.

Keywords: mmn eeg p50 gamma power p300 auditory gating
intravitreal bevacizumab in agioid streaks

Conditions: Angioid Streaks; Choroidal Neovascularization

Summary: the purpose of this study is to investigate the safety and efficacy of intravitreal bevacizumab in patients with choroidal neovascularization associated with angioid streaks.

to investigate the safety and efficacy of intravitreal bevacizumab in a patient with choroidal neovascularization associated with angioid streaks. one of the most serious ocular complication of angioid streaks is the occurrence of choroidal neovascularization (cnv) and because of the implication of the macula, this complication usually leads to central vision loss. during the past, laser photocoagulation, first, and photodynamic therapy (pdt), more recently, have been used as treatment for this kind of cnv. the outcome of these therapies was often variable and sometimes disappointing for the stabilization of visual acuity and lesion size in cnv secondary to as. five patients (six eyes) with cnv secondary to as participated in this retrospective interventional case series. all patients were scheduled for three monthly ivb injections (1.25 mg). two eyes had been previously treated with photodynamic therapy (pdt), and four received ivb as first choice treatment. ivb was repeated in case of recurrence after the three monthly ivb schedule. ophthalmic evaluations included: best corrected visual acuity (bcva) determination (etdrs), optical coherence tomography (oct), fluorescein and indocyanine green angiographies. main outcome measures were bcva improvement, reduction of leakage from cnv and diminution of central retinal thickness (crt). patients were followed-up for 30 months. patients were 3 males and 2 females aged 44 to 67 years (mean 51.6 +/- 9.07 sd), who received a mean number of 4.33 ib treatments (+/-1.5; min: 3, max: 7). the mean retreatment interval was 3 months (+/-1.36; min: 2, max: 6). four eyes (66.6%) showed a bcva improvement (mean 3.4 lines) from baseline and two eyes (33.3%) did not show any change in visual acuity from baseline to last follow-up. mean bcva rose significantly from 22.5+/-14.4 letters at baseline to 35.8+/-21.5 letters at 30 months (p=0.025). angiographic examinations showed reduction or cessation of the cnv leakage in all patients. oct findings demonstrated slight crt diminution (mean 41.6 µm). no intraocular pressure changes were observed after the ivb injection, which did not cause any systemic complication. no injection related back pain or ivb-induced ocular complication was reported.

Eligibility criteria:
inclusion criteria: * presence of an active cnv * visual loss * increased retinal thickness exclusion criteria: * no actively leaking cnv by fag * normal retinal thickness * satisfactory visual acuity
tolerance of early exercise in intensive care unit

Conditions: Critical Illness

Summary: practice guidelines recommend early physical therapy in intensive care unit. feasibility, safety and efficacy are confirmed by growing evidence based data. however, the scientific literature emphasizes the heterogeneity of targeted populations, lack of precisions concerning eligibility criteria, program modalities, timing initiation, progressions and stopping criteria. however, all these results remain to be precised and confirmed. so, the investigators hypothesize that an early exercise program in intensive care unit formalized from a decisional algorithm is well tolerated in clinical practice.

practice guidelines recommend early physical therapy in intensive care unit. feasibility, safety and efficacy are confirmed by growing evidence based data. however, the scientific literature emphasizes the heterogeneity of targeted populations, lack of precisions concerning eligibility criteria, program modalities, timing initiation, progressions and stopping criteria. however, all these results remain to be precised and confirmed. so, the investigators hypothesize that an early exercise program in intensive care unit formalized from a decisional algorithm is well tolerated in clinical practice.

Eligibility criteria:
inclusion criteria: * men and women * over 18 years old * hospitalized in intensive care unit * patients whose clinical condition allows initiating an early exercise program from critical care physician inclusion exclusion criteria: * less than 18 years old or disabled adult * head or spinal severe trauma * severe trauma of the lower limbs or pelvis * musculoskeletal and neurological conditions which do not permit to realise the exercise program * patient for whom the reason for hospitalization does not justify early physical therapy

Keywords: algorithm critical illness early exercise feasibility intensive care unit physical therapy
quality of life (qol) assessment in cancer patients and survivors with dermatologic conditions using dermatologic qol instruments

Conditions: Cancer; Dermatologic Conditions

Summary: the purpose of this study is to see how skin conditions that are related to different kinds of cancer or cancer treatments affect a patient's overall well-being. skin conditions are common in cancer patients and survivors. sometimes, the skin condition is directly related to the cancer. other times, these conditions are a side effect of cancer treatment. patients in the study will be asked to fill out at least one questionnaire about how they feel about their skin condition. if the patient needs to be treated for their skin condition, they will be asked to complete the same questionnaire when they return for a follow-up visit. the investigators hope the study will improve our understanding of how cancer patients feel about their skin conditions. they also hope this study helps them learn how to improve the way we treat skin conditions in cancer patients.


Eligibility criteria:
inclusion criteria: * cancer patients and survivors with a pre-existing dermatologic condition related to their underlying disease or completed/ongoing therapy for cancer, who present for assessment/management of their skin condition. * male or female patients at least 3 years and older * note: informed consent guidelines will be followed for minors * first grade adult family members, spouses, and caregivers of patients with a grade 2 or 3 or higher dermatologic condition related to their primary cancer or cancer treatment able to provide written informed consent exclusion criteria: * cognitive or psychiatric deficit resulting in an inability to provide written informed consent

Keywords: quality of life (qol) assessment 14-236 patients and survivors
identifying patterns in the breath of individuals with breast cancer

Conditions: Breast Cancer

Summary: researchers will compare the breath profiles of women with breast cancer and those without to determine whether there are disease-specific patterns that can be leveraged to facilitate breast cancer detection. women with mammogram-confirmed dense breast tissues undergoing standard-of-care breast cancer screening will be invited to participate. those who provide informed consent will provide one breath sample and fill out a questionnaire about their medical history with help from the research coordinators. breath samples will be collected prior to standard of care biopsy or mri, and patients will be stratified into the case or control group based on their test results. the primary goal of this project is to use exhaled alveolar breath and the subsequent spectral data produced by breathe biomedical's cavity ring-down spectrometer to further develop breathe biomedical's technology and machine learning algorithms to determine the feasibility of detecting breast cancer in women with dense breast tissue. secondarily, this project aims to identify patterns of vocs that are either over- or under-represented in participants with breast cancer when compared to the breath profiles of participants without breast cancer. this project will also assess performance characteristics of the technology (e.g. sensitivity, specificity, false negative rate, and false positive rate) including subgroup analyses. this project aims to understand intra-subject variability by exploring differences in breath signatures before and after definitive management of breast cancer, including surgical resection.


Eligibility criteria:
inclusion criteria: * female (sex as assigned at birth); * aged 40 - 74 years; * mammography confirmed dense breast tissue (bi-rads density score of c or d); * scheduled for standard of care biopsy or mri; * fluent in language of consent (english, spanish, or french); * ability to give informed consent; * able to provide a breath sample. exclusion criteria: * mammography confirmed fatty breast tissue (bi-rads a or b); * prior history of breast cancer; * previous surgical biopsy or surgical excision of breast cancer in the past six months; * history of cancer (except basal cell or squamous cell carcinoma of the skin) in the past year; * acute respiratory infection and/or symptoms in the past seven days; * mri bi-rads 3 undergoing active surveillance (mri requiring six-month follow-up). * pregnant or become pregnant during the study.

Keywords: breast cancer dense breast tissue infrared spectroscopy machine learning
to study the effect of short-chain fructooligosaccharides in women with irritable bowel syndrome

Conditions: Irritable Bowel Syndrome; Diarrhea- Irritable Bowel Syndrome; Constipation-predominant Irritable Bowel Syndrome

Summary: to evaluate whether there is clinical improvement through the scales (bristol, ibs severity score, and ibs quality of life) in women with irritable bowel syndrome after administration of sc-fos (short-chain fructooligosaccharides).

patients will be selected according to the inclusion and exclusion criteria of the study population for randomization into two groups: one group will be administered short-chain fructooligosaccharides at a dose of 12 gr. every 24 hours, and the other group will be administered corn starch as a placebo for 10 days.the protocol will be discussed with the patients and/or relatives of the patients, who will understand the consequences and advantages of the study and will sign the informed consent. it should be specified to each patient and/or family member that their participation in the protocol will not generate any extra cost for the administration of sc-fos, and furthermore, that no reward of any kind will be granted for their participation in the protocol.once informed consent has been obtained, the preparation (placebo or not) will be delivered to the surgery department of the central state hospital. it will come in bags in which the content can be visualized (10 pieces in total, one for each day), numbered according to the folio obtained by the corresponding randomization. it should be emphasized that neither the patient nor the surgery department will know which is a placebo and which contains sc-fos.there will be a placebo control group and a group that will be administered 12g of sc-fos, which should be diluted in 250 ml and taken daily for 10 days. before starting the administration of sc-fos or placebo, data will be collected on each patient (bristol scale, ibs severity score to evaluate severity, ibs quality of life, age, physical activity, drugs, food restriction, time of diagnosis of ibs, etc.).

Eligibility criteria:
inclusion criteria: * female sex * age 18 to 65 years * irritable bowel syndrome diagnosed by rome criterion * useful enteral feeding exclusion criteria: * recent gastrointestinal disease \< 2 weeks different to ibs * previous consumption of sc-fos * pregnancy

Keywords: irritable bowel syndrome sc-fos prebiotics
personalized post-operative pain management

Conditions: Persistent Post Operative Opioid Use; Post-surgical Pain

Summary: the main questions this study aims to answer are: does perioperative pgx personalized opiate therapy reduce persistent post-operative opioid use dependency, improve pain management and reduce opiate related adverse events in opioid naïve patients after surgery? participants will: take hydromorphone if the pgx results determine they have a snp indicating high or low metabolic activity in the cyp2d6 enzyme. complete a 7-day pain diary post-discharge. complete a follow-up phone call once per month for 90 days.


Eligibility criteria:
inclusion criteria: 1.18-85 years of age 2.able to read and understand study procedures. 3.willing to participate and sign an icf. 4.opioid naïve 90 days prior to surgery. exclusion criteria: 1. \ 85 years of age 2. unable to understand study procedures. 3. unwilling to give consent. 4. patients with cognitive impairment that can affect their ability to give consent. 5. previous surgery \<14 days from time of enrollment. 6. allergies to study intervention or oxycodone.

Keywords: cyp2d6 snps oprm1 snps comt snps pharmacogenomics