Kornimate/medical-research-clean huggingface dataset:
assessment of memory in children with kabuki syndrom

Conditions: Kabuki Syndrome

Summary: mnesic function has not, at present, been evaluated in patients with kabuki syndrome. some data from the neuroimagery suggest an impairment of memory function. the objective of our study is to assess the mnesic function of children with kabuki syndrom.

kabuki syndrome (sk - omim 147920 and 300867 orpha: 2322) is a rare genetic disease with a prevalence of approximately 1/32 000 and responsible for a malformation syndrome with mild to moderate intellectual impairment. sk is due to mutations in the kmt2d and kdm6a genes. as part of a national phrc (aom 07-090, clinicaltrial nct01314534, the investigators were able to perform psychometric tests type wisc4 and mri type vbm). disability in sk is characterized by a heterogeneous cognitive profile with strengths and weaknesses when calculating iq. brain mri reveals small hippocampi compared to controls. these 2 data are partly contradictory because the strengths of the patients with sk are a working memory and a verbal comprehension index high compared to the other indices of the tests wisc-iv. the objective of the research is to better understand the mnesic function of children with sk. 25 children aged 6 to 16 will be recruited. the diagnosis of sk will have been authenticated by the demonstration of a mutation in the kmt2d or kdm6a gene. the memory assessments will be conducted in one visit for each child, who will perform a memory assessment with a neuropsychologist, using the cms scale.

Eligibility criteria:
inclusion criteria: * child from 6 to 16 years old * presents an already established diagnosis of kabuki syndrome. * free, informed and written consent signed by the participant's parents, and the investigator (at the latest inclusion day and before any research required by the research). exclusion criteria: * be under 6 years old or over 16 years old * do not master the french language * not having access to language * deafness not paired * blindness.

Keywords: kabuki syndrome intellectual profile memory
compression headphone study

Conditions: Hearing Loss

Summary: the stimuli consist of speech in quiet, speech in noise, reverberant speech, and music recorded with different hearing aid settings, post-processed for headphone presentation and incorporated in an online sound survey. participants will receive tablets and headphones to conduct a sound quality rating at home. the survey will involve a training session and within-subject repeated measures. stimuli will be randomized.


Eligibility criteria:
inclusion criteria: * adults (18-99 years) with ≥3 months hearing aid experience * binaural, symmetric, sensorineural n3 to n4 hearing loss * able to use android interface and receive a video call on phone/computer * fluent in english exclusion criteria: * children/teenagers * normal hearing or hearing loss exceeding n4 by 10db * cannot wear over-ear headphones
oxytocin meg study

Conditions: Schizophrenia; Oxytocin; Magnetoencephalography (MEG); Social Cognition

Summary: the specific aim of this proposal is to investigate the neurophysiological mechanisms of oxytocin's (ot) prosocial effects in patients with schizophrenia and healthy subjects using magnetoencephalography. hypothesis a: when ot is administered to patients with schizophrenia, fear-related amygdala hyperreactivity and fusiform gyrus (fg) and anterior cingulate cortex (acc) hypoactivity will be normalized. hypothesis b: when ot is administered to patients with schizophrenia, the decreased functional connectivity (fc) between the amygdala, fg, and acc will be normalized. by elucidating the neurophysiological mechanisms of ot administration on emotional face processing, investigators will bee able to: 1. understand the pathophysiology of the functionally debilitating social cognitive deficits of schizophrenia, 2. test the efficacy of ot in normalizing the neural abnormalities underlying these social deficits, and 3. develop and optimize novel treatments for these currently untreatable deficits.


Eligibility criteria:
inclusion criteria for patients: * 18-40 years of age * male * must comprehend english * meet dsm-iv criteria for schizophrenia, schizophreniform or schizoaffective disorder * none or only minor changes to medications in the past week * able to use nasal spray * must be capable of providing informed consent * clinically stable inclusion criteria for healthy controls: * 18-40 years of age * male * must comprehend english * no diagnosis of mental disorder according to dsm-iv tr * able to use nasal spray * must be capable of providing informed consent * clinically stable exclusion criteria: * female * active substance abuse or dependence as determined by a urine toxicology drug screening * dsm-iv diagnosis of any disorder other than schizophrenia * medical conditions (atrophic rhinitis, recurrent nose bleeds and cranial surgical procedures (hypophysectomy), congestion or sinus problems that could interfere with the study as per the opinion of the investigator * hearing deficits * a pacemaker, extensive dental work, or any magnetic metal implants * any history of severe brain trauma

Keywords: oxytocin syntocinon social cognition schizophrenia magnetoencephalography (meg)
the use of genex in the management of early-stage osteonecrosis of the femoral head

Conditions: Avascular Necrosis; Osteonecrosis

Summary: the purpose of this study is to assess the clinical and x-ray results of patients who are treated with core decompression of the hip and the injection of a bone marrow concentrate and the use of the bone graft substitute genex®.

avascular necrosis (avn) or osteonecrosis (on) of the femoral head refers to a condition in bone metabolism when cells of the trabecular bone (porous bone found at the end of long bones like the femur) in the hip spontaneously die. depending on the amount of femoral head involvement, parts of the surface, like the articular surface that do not have blood vessels may collapse as the disease advances. although the exact common occurrence of avn or on is unknown, the incidence is estimated to be between 20,000 to 30,000 newly diagnosed patients each year in the us. core decompression of the hip is a minimally invasive surgical technique performed to manage symptoms in early stages (precollapse) of the condition. the procedure involves drilling holes into the femoral head to relieve pressure and create channels for new blood vessels to nourish the affected areas. multiple adjuncts to core decompression, such as structural bone grafts, bone marrow concentrates, and bone proteins have been developed to accelerate the healing process in these patients. in recent years, considerable research activity has also been expanded to find new bone substitutes with osteoconductive properties (where bone grows on a surface) for the use in the treatment of surgically created defects. genex® bone graft substitute is a catalyst for bone healing. it complements the body's natural healing processes and encourages normal bone structure to be restored at a steady rate. over 12 months, the graft matrix is completely absorbed and replaced by bone. no foreign artifacts are left behind to impair structural integrity.

Eligibility criteria:
inclusion criteria: * subject is at least 18 years or older with osteonecrosis of the femoral head * surgeon considers the patient appropriate for the core decompression procedure of the hip * subject provides voluntarily signature on the irb approved informed consent form * subject must be physically and mentally willing and able, in the investigator's opinion at the time of enrollment, to be compliant with the protocol and complete the study protocol and follow ups exclusion criteria: * subject is pregnant at the time of surgery * subject is incarcerated * subject is not comfortable with speaking, reading and understanding questions and providing responses in an available language for the questionnaires provided for the study

Keywords: avascular necrosis osteonecorsis hip femoral head
salicylic augmentation in depression

Conditions: Depression; Depressive Disorder; Major Depressive Disorder; Treatment Resistant Depression

Summary: the investigators are doing this research study to find out if using aspirin along with antidepressant treatment can lessen symptoms of depression. this study also aims to find out if some people improve more from taking aspirin than others. the investigators also want to see if it is possible to predict which participants will do better based on a blood test. aspirin is approved by the u.s. food and drug administration (fda) as an over-the-counter pain medication. but, aspirin is not approved by the fda to make antidepressant treatment better. this research study will compare aspirin to placebo.

this study is a randomized, double-blind, placebo-control trial. the primary aims of this study are: aim 1: to evaluate the clinical effect of aspirin augmentation on depression. aim 2: to assess the inflammatory profile of the blood of the aspirin augmentation responders compared with the non-responders. aim 3: to evaluate whether immune gene expression patterns are associated with antidepressant response to aspirin. aim 4: to collect samples for later, more detailed immunologic characterization.

Eligibility criteria:
inclusion criteria: * current diagnosis of major depressive disorder * hamilton depression rating scale (hdrs) score of \>19 * stable treatment regimen (no medication changes or changes in psychotherapy treatment in past 8 weeks, and no participation in stepped treatments, such as completion of a course of cognitive behavioral therapy, during the trial) * failed to remit with at least 1 antidepressant trial, or combination of 1 antidepressant and 1 augmentation agent * women of childbearing age must agree to use an approved method of contraception for the duration of the study exclusion criteria: * active suicidal ideation * history of manic episodes or psychosis * alcohol or substance use disorder up to one month prior to first testing session * comorbid neurologic condition affecting the central nervous system * comorbid autoimmune condition * uncorrected thyroid disease or a current abnormal thyroid-stimulating hormone (tsh) * active or recent (within the past month) infection (such as otitis, pneumonia, urinary tract infection); temperature \> 100.3 or white blood cell (wbc) count \> 11 k/microl will be considered evidence of active infection even in the absence of other symptoms * history of gi bleed * history of stroke * history of a bleeding disorder * platelet count \< 150,000/mm3 on initial screening * on a blood-thinning agent or taking nsaids daily * current use of oral steroids or other immunomodulating medications * salicylate sensitivity * pregnancy or breastfeeding

Keywords: aspirin treatment salicylic acid anti-inflammatory
sanofi pasteur quadrivalent intradermal influenza vaccine pregnancy registry

Conditions: Pregnancy; Influenza

Summary: the sanofi pasteur fluzone intradermal quadrivalent vaccine (fluzone qiv-id) pregnancy registry will be a prospectively recruited pregnancy surveillance program designed to collect to collect and analyze information on vaccine exposures, pregnancy outcomes, and fetal and offspring outcomes on pregnant women exposed to fluzone qiv-id vaccine.

sanofi pasteur will encourage registration of pregnant women exposed to fluzone qiv-id in the sanofi pasteur pregnancy registry by providing the registry's toll-free number, 1-800-vaccine (1-800-822-2463), in the uspi. the toll-free number will also be available through the sanofi pasteur-sponsored website for the pregnancy registry. both the united states product insert (uspi) and website will advise health care providers to register women who are pregnant or became aware they were pregnant at the time of fluzone qiv-id immunization. descriptive statistical methods will be the primary approach for summarizing data from the fluzone qiv-id pregnancy registry. no vaccine products will be provided or administered as part of this registry protocol.

Eligibility criteria:
inclusion criteria: pregnant women will be enrolled in the registry prospectively (after exposure to a product but before the conduct of any prenatal tests that could provide knowledge of the outcome of pregnancy). if the condition of the fetus has already been assessed through prenatal testing (e.g., targeted ultrasound, amniocentesis, etc.), such reports will be considered retrospective reports. retrospective reports are also eligible for the registry, but they will be analyzed separately from prospective reports. exclusion criteria: n/a

Keywords: fluzone quadrivalent intradermal influenza vaccine pregnancy registry influenza
evaluation of exufiber ag+ and other gelling fibre dressings

Conditions: Wounds and Injuries

Summary: investigate impact of gelling fiber dressings on handling exudate in medium to high exuding wounds


Eligibility criteria:
inclusion criteria: * signed informed consent form * both gender ≥ 18 years old * from medium to high exuding wound exclusion criteria: * known allergy or hypersensitivity to any of the treatment dressings * pregnant or lactating females * subjects with a target wound that is ≤1 cm2 * subjects with a target wound that is a full thickness burn * subjects with a target wound that is a full thickness pressure ulcer * subjects with known immunodeficiency * subject taking systemic antibiotics for wound infection * subject were the target wound is located on an infected limb interfered by minimal blood flow in the opinion of the investigator * subject with a target wound with unexplored enteric fistula * subjects who in the opinion of the investigator, will have problems following the protocol * subjects needing treatment with oxidizing agents such as hypochlorite solutions or hydrogen peroxide * previously enrolled in the present investigation * inclusion in other ongoing investigations at present that would preclude the subject from participating in this investigation as judged by the investigator * involvement in the planning and conduct of the clinical investigation
inflacor - clinical and genetic predictors of inflammation related complications after heart surgery

Conditions: Systemic Inflammatory Response Syndrome

Summary: the aim of the study is to evaluate a clinically and economically most effective diagnostic algorithm for prediction of inflammatory response related complications in patients undergoing heart surgery with use of cardiopulmonary bypass.

identified so far predictors of mortality and/or morbidity in patients who undergo heart surgery with cardiopulmonary bypass (cpb), used in previous risk prediction models (euroscore, cabdeal, cleveland), will be compared with new candidate variables: 1. anamnestic: recent tooth extractions, chronic inflammatory diseases, specific drug use; 2. biochemical: c-reacting protein, interleukin-6, tumor necrosing factor alpha; 3. genetical: single nucleotide polymorphisms of 10 genes associated with inflammatory response; and 4. clinical from the 1. postoperative day: systemic inflammatory response syndrome, apache-iii score; against their predictive capability of selected clinical phenotypes of inflammatory response occuring after surgery, beginning from day 2. after surgery.

Eligibility criteria:
inclusion criteria: * adults (age \>=18) * given and signed informed consent * no previous cardiac surgery with opening the pericardium exclusion criteria: * previous cardiac surgery with opening the pericardium * consent refused or not given

Keywords: cardiac surgery cardiopulmonary bypass acute lung injury acute respiratory distress syndrome acute kidney injury atrial fibrillation postoperative psychosis myocardial infarct sepsis
gentlecath air (urinary self-catheterization) - pain in female patients with neurological vesico-sphincter disorders

Conditions: Spinal Cord Injuries; Multiple Sclerosis; Parkinsonian Disorders; Allodynia

Summary: the purpose of this study is to evaluate the rate of occurrence of urethral pain in female patients with neurological vesico-sphincter disorders whilst performing self-catheterization using gentlecath™ air catheters.

intermittent catheterisation involves the insertion and removal of a hollow flexible tube called a catheter to drain urine from the bladder. intermittent catheterisation allows the individual to empty their bladder without the need for a long term indwelling catheter and can be implemented for people who have difficulty emptying their bladder due to neurogenic disorders. one of the complaints of female patients performing intermittent self-catheterization for neurological bladder is the occurrence of urethral pain on insertion or removal of the catheter, in particular in patients retaining sensitivity at this level. the gentlecath™ air catheter was designed to improve its tolerance and in particular to reduce the risk of pain. however, no studies have addressed this in real life. therefore, the purpose of this study is to investigate the rate of occurrence of urethral pain when using gentlecath™ air catheters as a bladder emptying method. in this multicentre observational study each subject will participate for 90 days. women under the care of the participating investigator and receiving their first prescription of gentlecath air catheter for urinary dysfunction due to neurological disorders will be approached for potential participation in the study. the primary outcome will be the pain assessment score measured on a vas (visual analog scale) during insertion and removal of the gentlecath™ air catheter in naive female patients with confirmed neurological pathway on d1, d3, d7, d14, d21, d28, d35, d45 and d90. the secondary outcomes will be to assess the patients' satisfaction of self-catheterization (based on incasaq score) at d45 and d90, to describe patient compliance on d45 and d90, to measure the post-voiding residue on inclusion on d45 and d90, to assess compliance with the self-catheterization throughout study duration, to describe the tolerance of the gentlecath™ air catheter throughout study duration and to measure the overall satisfaction on gentle cath air on d90.

Eligibility criteria:
inclusion criteria: * naive women of any self-catheterization, * aged 18 years old or over, * having been diagnosed with vesico-sphincteric disorders of neurological origin (spinal cord injury, multiple sclerosis, parkinsonian syndromes, ponytail syndrome), * requiring self-catheterization and having a prescription for a gentlecath™ air catheter. exclusion criteria: * current participation in another clinical research, * patients not able to complete questionnaires.

Keywords: neurogenic bladder intermittent urethral catheterization pain tolerance
exercise training in colorectal cancer patients

Conditions: Rectal Cancer

Summary: neoadjuvant chemoradiotherapy (nacrt) prior to surgery for lower gastrointestinal (colon and rectal) cancer is associated with improved survival, but also adversely affects physical fitness, potentially rendering patients unfit for major surgery or increasing the risk of adverse outcome (death and serious complications) after major surgery. the investigators have pilot data using an upper gastrointestinal cancer patient cohort showing that neoadjuvant chemotherapy (nac)reduces objectively measured exercise capacity (fitness). the investigators therefore propose a blinded, single centre, prospective interventional trial of patients undergoing nacrt prior to elective colorectal cancer resection in an nhs teaching hospital. the investigators wish to explore various hypotheses: 1. is exercise intervention feasible and tolerable in this cohort of patients? 2. can fitness be improved using a structured, responsive exercise training programme (sretp)? 3. can sretp improve quality of life? 4. can sretp improve physical activity? 5. can sretp improve surgical outcome? 6. can physiological fitness and oncological outcome be matched to identify an optimal time for physiological recovery following nacrt prior to major surgery. the investigators aim to recruit 5 patients for a feasibility and tolerably study and 30 patients for an interventional study over 24 months from aintree university teaching hospitals nhs foundation trust. consenting patients will undergo a series of tests designed to evaluate the ability of the muscle to take up and utilise oxygen, namely a cardiopulmonary exercise test (cpet) and vo2 kinetics tests, all done pre-crt and at 3,6,9 and 14 weeks post-crt (pre-surgery). all patients will have their cpet, as well as standard restaging scans at 9 and 14 weeks post nacrt. outcome, activity and quality of life data will also be collected.


Eligibility criteria:
inclusion criteria: * all patients listed to undergo elective colorectal cancer resection and longcourse neoadjuvant chemoradiotherapy at aintree university hospitals nhs foundation trust exclusion criteria: * unable to consent * under 18 years of age * unable to perform exercise * meet any contraindications on the ats cpet safety guidelines
non-invasive validation of non-invasive central blood pressure measurements using oscillometric pulse wave analysis

Conditions: Arterial Hypertension; Healthy Control; Coronary Heart Disease; Diabetes Mellitus

Summary: there is growing evidence that central blood pressure is a better predictor of hypertensive end-organ damage and cardiovascular outcome than routine brachial readings. the investigators aimed to evaluate the accuracy of a novel device for the non-invasive determination of central blood pressure based on automated oscillometric radial pulse wave analysis.


Eligibility criteria:
inclusion criteria: * cardiovascular disease, diabetes mellitus or healthy control exclusion criteria: * inability to give informed consent * hemodynamic instability

Keywords: central blood pressure measurement oscillometric radial pulse wave analysis