Kornimate/medical-research-clean huggingface dataset:
genetic studies in patients and families with infantile spasms

Conditions: Infantile Spasms

Summary: infantile spasms (iis), a characteristic epilepsy syndrome of infancy with often catastrophic developmental consequences, is known in some patients to have many different genetic, metabolic and structural etiologies. however, for most patients iis is the only presenting clinical feature and the specific cause is unknown. only two fda approved pharmacologic treatments for iis exist, adrenocorticotropic hormone (acth) and vigabatrin. while vigabatrin may be the treatment of choice for tuberous sclerosis as a cause for is, acth is the treatment of choice for all others. unfortunately, a substantial number of patients may still not respond to acth and there is no a priori way that suggests which patients may be responders. this has led to the following key questions: can novel genetic analyses determine known genetic causes of is with greater efficiency (more timely and cost-effective)? can novel genetic analyses determine previously unknown disease modifying genes that predispose individuals to develop is? can novel genetic analyses elaborate genes and gene polymorphisms that favor acth responsiveness? do these polymorphisms suggest strategies to improve acth responsiveness?

primary aim 1: apply whole-exome sequencing to determine possible causes of cryptogenic is and evaluate adding whole-exome sequencing to standard practice for determining causes of is. sub-aim 1: determine the effectiveness of whole-exome sequencing in suggesting disease-modifying genes that may contribute to triggering is. primary aim 2: determine genes, through whole-exome sequencing, that may play a role in determining acth responsiveness for is. sub-aim 2: correlate genes or genetic factors (haplotypes) associated with acth responsiveness and disease modification.

Eligibility criteria:
inclusion criteria: * patient trios (both biological parents + patient with iis = trio) with iis retrospectively identified to have been treated with acth according to fda-approved protocol (table 1). * ability to provide informed consent (in case of severe to profound intellectual disability, consent provided by an legally authorized representative, as necessary) exclusion criteria: * iis due to suspected or genetically proven tuberous sclerosis * iis but do not meet retrospective enrollment criteria (table 1) * inability to complete consent process
predictors for responsiveness to corticosteroid in patients with early acute respiratory distress syndrome

Conditions: Acute Respiratory Distress Syndrome

Summary: in a recent multicenter randomized controlled trial, prolonged administration of low-dose methylprednisolone (1mg/kg/day) initiated in early acute respiratory distress syndrome was associated with earlier resolution of pulmonary and extrapulmonary organ dysfunction and reduction in duration of mechanical ventilation and intensive care unit stay. however, glucocorticoids may induce serious adverse events and these adverse events might compensate the positive effect of prolonged methylprednisolone infusion and discourage physicians from treating acute respiratory distress syndrome patients with glucocorticoids. early prediction of responsiveness to prolonged methylprednisolone infusion would be help to decide whether to continue or not prolonged methylprednisolone infusion and this could reduce the drug related adverse events. we project to evaluate the predictors of responsiveness to prolonged methylprednisolone infusion in early acute respiratory distress syndrome .


Eligibility criteria:
inclusion criteria: * aecc definition of acute respiratory distress syndrome * early acute respiratory distress syndrome (within 72 h of diagnosis) * pf ratio \< 200 at peep ≥ 8 cmh2o exclusion criteria: * imminent death * contraindication to corticosteroid treatment * already on more than 0.5 mg/kg of methylprednisolone or its equivalent * evidence of uncontrolled infection * refusal of managing physician to participate in the study
comparative study of gangtrainer gt1, lokomat and conventional physiotherapy

Conditions: Stroke, Acute

Summary: the gangtrainer gt i and the lokomat have proven their effectiveness on stroke patients, but a comparison on the same controlled study population has not been made so far. aim of the study will not only be to establish which device will work better on acute, non ambulatory stroke patients in terms of regain of gait ability and motor function, but also clinical matters, like the efficacy of the treatment period. as a result of the trial it should be highlighted which kind of therapy has to be suggested for patients comparable to the study population. a significant better outcome of one device in regard to the other will suggest to use one device more than the other for future treatments.

a total of 120 patients will be enroled in the study and divided into 2 treatment and 1 control group. enroled patients will all be first supratentorial non ambulatory stroke patients (ischaemic, haemorrhagic or ich) with a hemiparesis and stroke onset from 3 - 12 weeks. theywill undergo either robotic treatment with the gangtrainer gt1 or the lokomat in one of the 2 treatment groups for 30 minutes of gross therapy time every workday for a 8 weeks period if they are in the treatment group, or conventional physiokinetherapy for 30 minutes of gross therapy time every workday for a 8 weeks period if they are in the control group. primary outcome will be the functional ambulation category (fac) assessed at enrolment, after 4 weeks after 8 weeks and at 6 months follow up.

Eligibility criteria:
inclusion criteria: * first supratentorial stroke (ischaemic, haemorrhagic or ich) resulting in a hemiparesis * interval from stroke 3 - 12 weeks * non ambulatory (fac \< 3) * free sitting on bedside for 1 minute, both feet on the floor, ev. holding on bedside by hands * barthel index 25 - 65 exclusion criteria: * unstable cardiovascular system (in case of doubt, only after approval by a internist) * manifested heart diseases like labile compensated cardiac insufficiency (nyha iii), angina pectoris, myocardial infarction 120 days before study onset, cardiomyopathy, severe cardiac arrhythmia * severe joint misalignment (severe constriction of movement for hip, knee and/or ankle: more than 20° fixed hip and knee extension deficit, or more than 20° fixed plantar flexion of the ankle * severe cognitive dysfunction, which does not allow for comprehension of the aims of this study * severe neurological or orthopaedic diseases (like polio, parkinson´s disease), which massively affect the mobility * deep vein thrombosis * severe osteoporosis * malignant tumour diseases

Keywords: stroke robotics gait rehabilitation
restoring emotion regulation networks in depression vulnerability

Conditions: Major Depression

Summary: selective biases in attention can be modified by a simple computerized technique: the attention bias modification task (abm) pioneered by macleod et al. cognitive biases may be one reason depression recurs, and altering these biases should reduce risk of recurrence. recently, evidence has supported this hypothesis . the mechanisms by which abm works are not well understood. more research is needed to explore how altering an implicit attentional bias can lead to changes in subjective mood. one possible explanation is that positive attentional biases are an important component of explicit methods of emotion regulation. the ability to effectively regulate one's emotions is a fundamental component of mental health and this ability is impaired in depression. it has also been shown that recovered depressed people spontaneously show a more dysfunctional pattern of emotion regulation as compared to never depressed controls. supporting this, growing evidence implicates dysregulation of a medial/orbitofrontal circuit in mood disorders. this circuit includes the orbitofrontal cortex and anterior cingulate cortex, the ventral striatum, the ventral pallidum and medial thalamus. components of this circuit are reciprocally connected with the amygdala, which is implicated in emotional processing in the healthy brain and dysregulated in depression. negative emotion processing biases depend on both enhanced "bottom-up" responses to emotionally salient stimuli and reduces "top-down" cognitive control mechanisms, required to suppress responses to emotionally salient but task irrelevant information. cognitive reappraisal and distancing are common strategies to down- or upregulate emotional responses. reappraisal is an emotion regulation strategy that involves reinterpretation and changing the way one thinks about an event or stimulus with the goal of changing its affective impact. distancing is a type of reappraisal that involves creating mental space between oneself and the emotional event in order to see things from a different, less self-focused perspective. it has been shown that distancing is a strategy that people can improve at over time compared to reinterpretation. the neural systems which support the explicit regulation of emotion have previously been characterized and include both lateral- and prefrontal cortex. this frontal activity is predicted to downregulate limbic circuitry involving the amygdala during passive viewing of emotional salient stimuli.


Eligibility criteria:
inclusion criteria: * currently no-depressed subjects with a history of major depression. exclusion criteria: * current or past neurological illness, bipolar disorder, psychosis or drug addiction.
unbound cloxacillin concentrations during continuous infusion

Conditions: Staphylococcal Infections

Summary: cloxacillin is the first-line choice for the treatment of severe infections caused by the bacterium staphylococcus aureus in sweden. over the past year, cloxacillin is increasingly administred through continuous infusion. in this study, the free (unbound) concentration of cloxacillin when administered as a continuous infusion will be measured to ensure that the free concentration is neither too high nor too low. a pk/pd model will be developed to predict which dosage of cloxacillin is appropriate for an individual based on age, gender, kidney function, and serum-protein level.


Eligibility criteria:
inclusion criteria: * age 18 years or older * treating physician has decided to start continuous infusion of cloxacillin exclusion criteria: * unwilling or unable to provide written informed consent

Keywords: cloxacillin
a long-term safety extension study of delta-9-tetrahydrocannabinol (thc) and cannabidiol (cbd) in multiple sclerosis

Conditions: Multiple Sclerosis; Spasticity

Summary: an extension study to evaluate the long-term safety, tolerability and efficacy of gw-1000-02 treatment in multiple sclerosis.

patients who participated in the placebo controlled phase of this study and opted to continue receiving open label gw-1000-02 entered the follow-on extension of the study and completed symptom assessments to determine whether they were continuing to receive clinical benefit from gw-1000-02.

Eligibility criteria:
inclusion criteria: * aged at least 18 years. * multiple sclerosis of any type. * stable multiple sclerosis symptomatology during the four weeks before study entry. * symptoms of the required severity (\>50 mm on a 100 mm visual analogue scale severity scale) in least one of the specified impairment categories; spasticity, muscle spasms, disturbed bladder control, neuropathic pain, limb tremor. * a stable medication regime during the four weeks before study entry. * willing to abstain from cannabis or cannabinoids for at least seven days before study entry, and during the study. * agreed either to use effective contraception during the study and for three months thereafter, or had been surgically sterilised or, if female, were post-menopausal. * clinically acceptable laboratory results for pre-study screening. * willing and able to undertake and comply with all study requirements. * willing and able to read, consider and understand the subject information and consent form and give written informed consent. subjects unable to read or to sign the document procedures were treated as detailed in the declaration of helsinki. * willing for their general practitioner, and consultant if appropriate, to be informed of study participation. * willing for their name to be notified to home office for participation in the study. exclusion criteria: * known or strongly suspected to be abusing drugs, including alcohol. * not prepared to abstain from cannabis or cannabinoids during the study. * current or past addiction to cannabis. * known or suspected to have had an adverse reaction to cannabinoids causing psychosis or other severe psychiatric illness. * history of any type of schizophrenia, any other psychotic illness, or other significant psychiatric illness or personality disorder other than depression associated with chronic illness. * received any drug containing levodopa (sinemet®, sinemet plus®, levodopa®, l-dopa®, madopar®, benserazide®). * serious cardiovascular disorder including angina, uncontrolled hypertension, or an uncontrolled symptomatic cardiac arrhythmia. * significant renal or hepatic impairment as shown in medical history or indicated by laboratory results. * history of epilepsy. * terminal illness or other condition in which placebo medication would be inappropriate. * pregnant, lactating or at risk of pregnancy. * participated in any other clinical research study during the 12 weeks before study entry. * planned hospital admission between study entry and visit 6. * planned travel outside the uk between study entry and visit 6.
aprepitant- and olanzapine- containing anti-emetic regimens with high dose melphalan

Conditions: Nausea; Vomiting

Summary: the purpose of this study is to help answer the following research question: * whether administration of an aprepitant containing regimen, an olanzapine containing regimen or regimen containing both will prevent nausea and vomiting better for patients undergoing an autologous stem cell transplant with melphalan chemotherapy. both of these medications are approved by the united states food and drug administration (fda) for nausea and vomiting. * participants will be randomly assigned to one of the 3 treatment groups: * arm a: aprepitant containing anti-emetic therapy * arm b: olanzapine containing anti-emetic therapy * arm c: aprepitant plus olanzapine containing anti-emetic therapy

this is a multi-center, randomized, non-inferiority phase 3 study conducted to determine an appropriate anti-emetic regimen for patients receiving melphalan for an autologous stem cell transplant (sct). candidates for this trial will include patients aged 18-80 years with hematologic malignancies receiving high dose melphalan as part of a conditioning regimen for an autologous stem cell transplant. patients will be enrolled in 3 arms. patients in arm a will receive an aprepitant containing anti-emetic regimen. patients in arm b will receive an olanzapine containing anti-emetic regimen. patients in arm c will receive an aprepitant plus olanzapine containing anti-emetic regimen. patients must be able to tolerate oral medications. patients will be carefully monitored for rates of emesis, nausea, and mucositis. any adverse events will be recorded. impact on quality of life will also be assessed. a total of 184 patients will be accrued to each arm. it is anticipated that the accrual period will last approximately 2-3 years. the primary endpoint of this study is a complete response, defined as no emesis and no rescue therapy within 120 hours of melphalan administration.

Eligibility criteria:
inclusion criteria: * autologous transplant containing high dose melphalan as part of the conditioning regimen (single or 2 day melphalan; beam \[carmustine, etoposide, cytarabine, melphalan\]) * able to tolerate oral medications exclusion criteria: * nausea/vomiting within 12 hours before planned high dose conditioning chemotherapy * any anti-emetic treatment within 24 hours before planned high dose conditioning chemotherapy * pregnancy * baseline corrected qt interval (qtc) \> 500 ms * history of seizures * history of central nervous system (cns) disease * human immunodeficiency virus (hiv)

Keywords: autologous myeloma transplant
decision aid for gastroesophageal reflux disease management

Conditions: Gastroesophageal Reflux Disease; Esophageal Cancer; Barrett's Esophagus

Summary: the study is to test a decision aid that is designed to help patients make decision regarding management of their gastroesophageal reflux disease (gerd). once the decision aid is constructed we will test and assess the aid on \~100 patients who have gerd to assess effectiveness.


Eligibility criteria:
inclusion criteria: * patients with gerd, * age at least 18, * able to give consent exclusion criteria: * unable to perform decision aid on a computer

Keywords: gerd heartburn decision aid
acrysof® bilateral panoptix(r) spectacle freedom and patient satisfaction study

Conditions: Cataract

Summary: the objective of this study is to assess the spectacle independence of patients receiving the acrysof® panoptix® intraocular lens (iol) after uneventful cataract surgery.

this study is a single-arm unmasked clinical evaluation study of spectacle independence after successful bilateral cataract surgery. subjects will be assessed pre-operatively, operatively and at 1 day, 1 month and 3 months post-operatively. clinical evaluations will include administration of a spectacle independence questionnaire, as well as measurement of bilateral visual acuity and manifest refraction.

Eligibility criteria:
inclusion criteria subjects are eligible for the study if they meet the following criteria: note: ocular criteria must be met in both eyes. * presenting for uncomplicated bilateral cataract surgery and have an interest in spectacle independence using a multifocal iol or multifocal toric iol option * gender: males and females. * age: 40 or older. * willing and able to provide written informed consent for participation in the study. * willing and able to comply with scheduled visits and other study procedures. * have good ocular health, with no pathology that compromises visual acuity (outside of residual refractive error and cataract) * have regular corneal astigmatism with a magnitude that can be treated with a non-toric iol or a toric iol in the approved ranged for the panoptix lens. * have 20/32 (0.2 logmar) or better potential acuity in both eyes exclusion criteria if any of the following exclusion criteria are applicable to the subject or either eye, the subject should not be enrolled in the study. * irregular astigmatism (e.g. keratoconus) * corneal pathology (e.g. scar, dystrophy, pterygium, moderate-to-severe dry eye) * monocular status (e.g. amblyopia) * previous radial keratotomy, corneal refractive surgery or other corneal surgery (e.g. corneal transplant, lamellar keratoplasty) * previous anterior or posterior chamber surgery (e.g., vitrectomy, laser iridotomy) * diabetic retinopathy * macular pathology (e.g. age-related macular degeneration, epiretinal membrane) * history of retinal detachment * subjects who have an acute or chronic disease or illness that would confound the results of this investigation (e.g., immunocompromised, connective tissue disease, clinically significant atopic disease, diabetes, and any other such disease or illness), that are known to affect postoperative visual acuity. * participation in (or current participation) any investigational drug or device trial within the previous 30 days prior to the start date of this trial. the principal investigator reserves the right to declare a patient ineligible or non-evaluable based on medical evidence that indicates they are unsuitable for the trial. pregnancy has a known effect on the stability of refractions and visual acuity. as such, subjects who become pregnant during the study will not be discontinued but their data may be excluded from analyses of effectiveness.

Keywords: panoptix trifocal iol multifocal iol
trial to investigate viral shedding in healthy children vaccinated with vaccine virus liquid (caiv-t)

Conditions: Influenza

Summary: the primary objective of this study was to determine the proportion of subjects, seronegative to all three strains of influenza, as defined by a serum hemagglutination inhibition antibodies (hai) antibody titer of \<1:10, who shed each vaccine virus strain following a single dose of caiv-t.


Eligibility criteria:
inclusion criteria: * children at least 6 months of age and less than or equal to 18 months of age at the time of enrollment, and in good health as determined by medical history, physical examination, and clinical judgment; * whose parent/legal guardian has provided written informed consent after the nature of the study has been explained; * who, along with their parent or legal guardian, will be available for the two month duration of the trial (from enrollment to study completion). exclusion criteria: * whose parents or legal guardians are perceived to be unavailable or difficult to contact for evaluation or study visits during the study period; * with any serious chronic disease (e.g., with signs of cardiac or renal failure or severe malnutrition), including progressive neurological disease; * with down's syndrome or other known cytogenetic disorders; * with a known or suspected disease of the immune system or those receiving immunosuppressive therapy, including systemic corticosteroids; intranasal steroids or cytotoxic agents; * have an immunosuppressed or an immunocompromised individual living in the same household; * with a documented history of hypersensitivity to egg or egg protein or any other component of the study vaccine or placebo; * who, at anytime prior to study enrollment, receives any influenza vaccine (commercial or investigational); * with any medical conditions that in the opinion of the investigator might interfere with interpretation of the study results. note: a pregnant household member is not considered a contraindication to enrollment.
study evaluating agg-523 in subjects with osteoarthritis

Conditions: Osteoarthritis

Summary: this study will evaluate the effect of agg-523 administration on biomarkers related to osteoarthritis. safety and tolerability of agg-523 will also be assessed.


Eligibility criteria:
inclusion: * mild to moderate osteoarthritis of the target knee. * subjects must be generally healthy but enrolled with stable chronic illness if well controlled.