cyrilzakka/clinical-trials huggingface dataset:
Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

Inherited bone marrow failure syndromes (IBMFSs) are a diverse collection of genetic illnesses characterized by various degrees of peripheral cytopenias due to defective single-lineage or multi-lineage hematopoiesis, it can manifest itself at birth or later in life.

Studying the genetic etiology underlying unclassifiable IBMFSs with bone fragility fractures should be useful for clarifying the undiagnosed pathophysiological mechanisms and other accessory factors to improve the diagnosis, follow-up, prognosis, and management of these patients as well as prevent future complications.

Moreover, early diagnosis of risk factors of unusual presentations of IBMFSs will be a useful tool for better treatment strategy.

In addition, along with typical IBMFSs, novel clinical entities must be included in an overall molecular portrait of IBMF disorders. As a result, comprehensive genetic analysis will be effective in establishing an accurate genetic diagnosis at medical evaluation.

Eligibility Criteria:
Inclusion Criteria:

* Confirmed a two-generational family with IBMFSs presented with signs and symptoms of bone fragility fractures and admitted or treated in Hematology Division at Internal Medicine Departments of various university hospitals will be screened for enrollment in this study.
* The investigators will invite the entire family for testing for IBMFSs mutations, and three additional family members consented to participate in this study.

Exclusion Criteria:

* • Patients will be diagnosed with paroxysmal nocturnal hemoglobinuria

  * Patients will be diagnosed with de novo myelodysplastic syndrome
  * IBMFSs-patients will refuse to consent to this study.
  * Serologic evidence of recent virus infection as hepatitis A (HAV), HBV, HCV, HEV, cytomegalovirus (CMV), Epstein-Barr virus (EBV), or positive test for HIV.
  * IBMFSs patients with severe systemic diseases (such as cardiovascular, renal, and hepatic disease) or surgical/medical conditions that might interfere with follow-up instructions.
  * IBMFs patients with psychiatric disorders or a history of drug abuse,
DMHI for At-Risk College Students

The goal of this clinical trial is to learn if a single-session digital intervention (SPARK Coping) is acceptable, usable, and demonstrates a preliminary signal of efficacy in reducing symptom-related distress and increasing positive treatment-seeking attitudes among college students reporting subthreshold symptoms associated with risk for psychosis. Research questions inclue:

* Does SPARK Coping reduce symptom-related distress and increase positive treatment seeking attitudes (primary outcomes) relative to a waitlist control condition?
* Does SPARK Coping increase adaptive coping and reduce internalized stigma (primary targets) relative to a waitlist control condition?

Researchers will compare provision of SPARK Coping to a waitlist control condition and collect data from participants on each of the variables described above. Participants will:

* Complete questionnaires and surveys remotely at the start of the study and two weeks later
* Be offered access to the SPARK Coping intervention either after completion of their baseline assessment (intervention arm) or after two weeks (waitlist control arm).


Eligibility Criteria:
Inclusion Criteria:

* Symptoms indicating risk for psychosis (a distress score \>= 20 on the Prodromal Questionnaire, Brief \[PQ-B\], per Savill et al., 2018; Early Intervention in Psychiatry and a positive frequency average score \>= 1.47 on the Community Assessment of Psychic Experiences (CAPE-P15), per Jaya et al., 2021 and Bukenaite et al., 2017)
* Residence in the United States
* Currently enrolled in a post-secondary college program.

Exclusion Criteria:

* Inconsistent or implausible reporting of symptoms at screening as determined by empirically-determined methods for detecting malingering or inconsistency
* Failure to demonstrate understanding of study details in comprehension screening
Transmagnetic Stimulation Pilot in Early Stage Alzheimer's Disease

Alzheimer's disease (AD) is a progressive neurodegenerative condition affecting 6.2 million individuals in the United States, resulting in an annual cost of care of $305 billion. AD is functionally characterized by progressive degeneration of large-scale brain networks (LSBNs), including the default mode network (DMN) presumably from the deposition of amyloid plaques and neurofibrillary tangles. Available FDA-approved medications for AD such as donepezil and memantine offer limited benefit and modest impact on quality of life. In combination with resting state functional MRI (rs-fMRI), transcranial magnetic stimulation (TMS) with intermittent theta burst stimulation (iTBS) offers a non-invasive alternative to pharmacotherapy in persons with AD. We propose a pilot trial using rs-fMRI to target dysfunctional LSBNs in early stage AD.


Eligibility Criteria:
Inclusion Criteria:

* Established diagnosis of Mild Cognitive Impairment (MCI)/mild AD
* Evidence for Central Nervous System (CNS) amyloidosis (e.g., Amyloid positron emission tomography (PET) or cerebrospinal fluid (CSF) biomarkers consistent with AD)
* Prior brain imaging performed
* Mini-Mental State Examination (MMSE) \>24
* Clinical Dementia Rating (CDR) Scale 0.5-1
* Stable dose of cholinesterase inhibitors and memantine for at least one month
* Subjects are between 40-90 years of age

Exclusion Criteria:

* Non-AD dementia including, but not limited to, Lewy body dementia, frontotemporal dementia, vascular dementia, Jakob-Creutzfeldt disease, etc.
* Inability to tolerate rs-fMRI
* Contraindication of rs-fMRI due to implants or metal
* Seizure disorder
Patient Receptiveness to Using Virtual Reality

This study will evaluate the acceptability, use, and general effect that exposure to virtual reality has on hospitalized patients reporting at least one discomfort including recent or current moderate-severe pain.

Patients with moderate-severe pain will be approached with approval of nursing staff and front line nurse manager who determine their appropriateness for a trial of virtual reality (VR) exposure for up to 30 minutes. The trial and use of VR will be explained after meeting the inclusion criteria and they will be asked about their level of interest in trying the VR headset. If interested, the subject will indicate their verbal consent to proceed with the VR trial. They will be asked about any baseline discomforts of pain, anxiety/stress or other discomfort; which will be rated on a 0-10 numeric (visual analog) scale. A baseline heart rate will be recorded in beats per minute. The headset will be applied and adjusted for comfort, then the app will be started along with a timer to track the duration of their use up to a maximum of 30 minutes. When the Headset is removed, the duration of use will be noted. The change in post-exposure heart rate (in beats per minute) and discomforts of pain, anxiety/stress or other discomforts (subtracting baseline from 5 minute post-exposure data) will be recorded. Subjects will be asked about the ease of use, whether or not they would use VR again, and for any other comments they would like to express. The headset will be disinfected between patient use.

Eligibility Criteria:
Inclusion Criteria:

* English-speaking
* Inpatients on a general care unit
* Current or recorded moderate to severe pain in past 24 hours

Exclusion Criteria:

* Receiving palliative/end of life care;
* Admitted for treatment of psychiatric or mental health disorder
* History of seizure or stroke
* Legally blind or deaf
* Moderate or severe cognitive impairment
* Head wounds or bandages
* On isolation precautions.
Interstitial Assessment of Architectural Heterogeneity in Prostate Cancer Using a Fine Needle Photoacoustic Probe

In this project, we will integrate the Photoacoustic (PA) technology into a prostate biopsy procedure through a fine needle probe. The needle probe will be in the shape of a biopsy needle and compatible with the needle insertion mechanism in the transrectal ultrasound (TRUS) probe. When inserted into the prostate, the fine needle PA probe will assess the histological information in its surrounding tissue without any tissue extraction. The needle probe has been tested in prostate tissue samples and whole human prostates ex vivo.


Eligibility Criteria:
Inclusion Criteria:

* 1) Planned prostate biopsy as part of routine clinical care
* 2) \> 40 and \<80 years old

Exclusion Criteria:

* 1) Known history of bleeding disorders or
* 2) Patients taking anticoagulants, no matter doses or washout time
* 3) Known allergy to silicone material
* 4) Unable to provide informed consent
* 5) Either the surgeon or the patient do not think the patient will not be able to complete all parts of the study, the patient will be excluded
* 6) Involved in other investigational studies.
Trimethoprim-Sulfamethoxazole vs Levofloxacin as Targeted Therapy for Stenotrophomonas Maltophilia Infections: a Retrospective Cohort Study

This study seeks to compare mortality outcomes of levofloxacin and trimethoprim-sulfamethoxazole treated patients who have Stenotrophomonas maltophilia blood stream or lower respiratory tract infections by retrospectively analyzing a propensity-matched cohort from a large dataset of electronic health record data.


Eligibility Criteria:
Inclusion Criteria:

* 18 years of age and older
* Stenotrophomonas maltophilia culture positive from blood or the following specified respiratory tract sites: sputum, tracheal aspirate, bronchoalveolar lavage and protected bronchial brush washings
* Received either levofloxacin or TMP/SMX targeted therapy
* Those patients that received empiric therapy with a consistent medication (for example, levofloxacin empirically in the levofloxacin targeted therapy cohort) were included

Exclusion Criteria:

* Received antimicrobial other than TMP/SMX and levofloxacin, with known activity against Stenotrophomonas maltophilia (the list of antimicrobials that fit this exclusion criteria is: erythromycin, moxifloxacin, ciprofloxacin, minocycline, tigecycline, doxycycline, eravacycline, ceftazidime, cefepime, ticarcillin-clavulanate, cefiderocol, colistin, and chloramphenicol)
* Received inconsistent empiric therapy (for example, levofloxacin empirically in the TMP/SMX targeted therapy cohort) will be excluded from analysis
* Cystic fibrosis code present
* Organism resistant to therapy received
One-lung Ventilation During Internal Thoracic Artery Grafting in Cardiac Surgery

Coronary artery bypass grafting is a current cardiac surgery. Internal thoracic artery is usually taking to restore coronary revascularization, and its dissection can lead to accidental or voluntary pleural effusions. Respiratory complications are frequent, due to the drainage required. In this study, the investigators propose one-lung ventilation to facilitate artery grafting and surgical procedure. The investigators will include all adult patients with elective coronary artery bypass surgery (CABG) by internal thoracic artery, in a prospective, controlled, randomized and monocentric study. The main objective is to demonstrate that one-lung ventilation using EZ-Blocker can reduce pleural effusion defined by presence of drainage and/or pneumothorax on X-ray chest in the ICU.


Eligibility Criteria:
Inclusion Criteria:

* elective CABG surgery with internal thoracic artery, with patient consent.
* Patient who have french social security

Exclusion Criteria:

* Cardiac or thoracic past-history
* polyurethane allergy
* guardianship patient
* endotracheal intern diameter too small to allow the EZ-Blocker introduction or the fiberscope
* use of LASER immediately near the EZ-Blocker
In Vivo EGFR Molecular Classification and Treatment Response

The investigators developed 18F-MPG as a targeted molecular imaging agent for noninvasive and repeatable detecting EGFR-activating mutational status. And use 18F-MPG to monitor EGFR-TKIs and chemotherapy treatment efficiency.

The goal of investigators were to evaluate the use of 18F-MPG as a novel PET/CT radiotracer to monitor EGFR-activating mutational status and identify EGFR-TKIs benefit NSCLC patients. the investigators want to evaluated the use of 18F-MPG in lung cancer imaging in adult NSCLC patients with different EGFR mutational status of primary and metastatic cancers. And the investigators want to evaluated the use of 18F-MPG in adult NSCLC patients with EGFR mutational status received non-treatment, EGFR-TKIs and chemotherapy.

Eligibility Criteria:
Inclusion Criteria:

* Advanced NSCLC
* 18 years or older
* A life expectancy of at least 12 weeks
* Presence of a malignant lesion within the chest of at least 0.5 cm diameter as measured by computed tomography (CT)
* Written informed consent

Exclusion Criteria:

* Claustrophobia
* Pregnancy
* Metal implants in the thorax
The Effect of Virtual Reality Applications

Thyroid nodules are a common health problem in the adult population. The majority of cancers are diagnosed by thyroid fine needle aspiration biopsy. Thyroid nodules generally show clinical findings in 1-5% of cases on physical examination and 20-70% on ultrasound examination. In diagnosis; Ultrasonography, fine needle aspiration biopsy, ultrasonography-guided fine needle aspiration biopsy, scintigraphy, computed tomography and magnetic resonance imaging are widely used. The fact that the thyroid fine needle aspiration biopsy procedure is painful, there is no speaking or coughing during the procedure, and in case of insufficient sample, the procedure must be performed several times. Its repetition causes fear and anxiety in patients. A combination of pharmacological and nonpharmacological methods for pain control likely provides the most effective pain relief for the patient. Distraction is one of the non-pharmacological methods used in pain control. Distraction is one of the most preferred methods to reduce pain in patients during diagnosis and treatment procedures. It is a method that allows patients to control and reduce the symptoms they experience by focusing their attention on a different point.The aim of this study is to examine the effect of using a motivational video with virtual reality glasses to distract attention during the biopsy procedure on pain, stress and fear in individuals with suspected thyroid cancer.

Research Type:

It was designed as a randomized controlled experimental study.

Research Population and Sample:

The research sample will consist of patients with suspected thyroid mass who applied to a University Hospitals. The sample of the research is aimed to be 100 volunteer diabetic patients who applied to the University Hospital.

Eligibility Criteria:
Inclusion Criteria:

* Patients with suspected thyroid mass
* No dizziness problem
* No vision problems

Exclusion Criteria:

* Mental health problems that may prevent wearing virtual reality glasses
Molecular Epidemiology of Essential Hypertension

To localize individual genes, called blood pressure quantitative trait genes \[BPQTGs\], which influence blood pressure levels in the population-at- large, and to determine if these genes are able to predict the occurrence of essential hypertension or coronary artery disease.

BACKGROUND:

Essential hypertension reaches epidemic proportions among adults and is a significant risk factor for premature coronary artery disease \[CAD\] and stroke. The research to localize BPQTGs represents an initial step toward applying DNA information to early identification of at-risk individuals and understanding the complex relationships among blood pressure, essential hypertension, and coronary artery disease.

DESIGN NARRATIVE:

The study has four aims. Aim 1 uses robust sibling pair linkage methods, parental marker data, and office blood pressure levels measured on 1,376 full sibling pairs to localize BPQTGs to regions of the human genome marked by highly polymorphic tandem repeat loci in or very near to 59 genes involved in blood pressure regulation. These genes were selected based on their involvement in the renin/angiotensin system, ion transport, cardiac physiology, biometabolism of neurotransmitters, or carbohydrate and lipid metabolism. At each gene, a highly polymorphic tandem repeat marker locus has already been identified. Aim 2 uses methods of association analysis for related individuals and office blood pressure levels measured on 587 full sibships to localize BPQTGs to regions of the human genome marked by the 59 candidate BPQTGs. Aim 3 determines if variation in these BPQTGs improves the ability to predict differences in blood pressure levels in a sample of 1,166 unrelated normotensive adults or essential hypertension status in a sample of 1,160 unrelated grandparents beyond that provided by established predictors. Aim 4 determines if variation in these BPQTGs improves the ability to predict symptomatic or asymptomatic coronary artery disease status beyond that provided by established predictors including blood pressure and essential hypertension. Aims 3 and 4 also ask whether the predictive relationship of the traditional risk factors to blood pressure, essential hypertension, or coronary artery disease is different among genotypes at these BPQTGs.

The study was renewed in FY 1999 to continue data analysis.

Eligibility Criteria:
No eligibility criteria
Efficacy and Safety of UC-MSCs for the Treatment of Steroid-resistant aGVHD Following Allo-HSCT

Randomized, open-label, multicenter study to investigate the efficacy and safety of umbilical cord-derived mesenchymal stem cells (UC-MSC) for the treatment of steroid-resistant acute graft-versus-host disease (aGVHD) following allogeneic hematopoietic stem cell transplantation (allo-HSCT), with a view to establishing an effective treatment protocol for steroid-resistant aGVHD.

A total of 130 patients with steroid-resistant aGVHD after allo-HSCT are enrolled in this multicenter, randomized, controlled trial. Patients were randomized to UC-MSC + anti-CD25 monoclonal antibodies (mAb) group and anti-CD25 mAb group. The complete response (CR) rate after 4 weeks of treatment in the two groups will be compared. Adverse events are also recorded throughout the study.

Eligibility Criteria:
Inclusion Criteria:

* 1.Confirmed diagnosed steroid-resistant aGVHD after allo-HSCT. 2. Neutrophile granulocyte (ANC) ≥ 0.5 x 10\^9/L. 3. Creatinine below 2 times normal upper limit . 4. Willing and able to sign written informed consent.

Exclusion Criteria:

- 1. Untoleratation of the treatment. 2. Primary disease are not effectively controlled or are progressing. 3. Active infection (Bacteria, fungi, viruses ). 4. Combined with dysfunction of multiple organ. 5. Female patients who are nursing or pregnant, or who contemplate pregnancy during the study period.

6. Patients who are deemed unsuitable for the study by the investigator.
Translation, Cross-cultural Validity and Reliability of a Danish Version of the Anterior Knee Pain Scale

The Anterior Knee Pain Scale (Kujala) is a questionnaire designed to assess adults with patellofemoral disorders and is widely used in both anterior knee pain and patellar dislocation patients.The questionnaire is a patient-reported outcome measure (PROM), that was developed in 1993 and has been translated and validated into most major languages (e.g. French, Italian, Chinese, German, and Spanish) and has gained wide international acceptance. In a recent systematic review, the Kujala was among the eight most commonly used PROMS for patients with patellofemoral pain. In addition, the Kujala was used in almost 80% of studies of patellofemoral instability/dislocation.

The Kujala has been widely used in Denmark during the last 15 years, but surprisingly it has not been translated and validated in Danish according to international guidelines. The translation of the Kujala into Danish will stimulate to more valid and precise results of the Kujala questionnaire in both patients with anterior knee pain and patients with patellar dislocation

The aim of this study is to cross-cultural translate and adapt the Kujala into a Danish Kujala-DK. Secondarily to determine validity and reliability of the Kujala-DK in two consecutive Danish populations of patients with either anterior knee pain or patellar dislocation.


Eligibility Criteria:
Inclusion Criteria:

* Danish speaking
* MPFL-reconstructed

Exclusion Criteria:

-
Co-administration of Pneumococcal Conjugate Vaccine With DTPa-IPV-Hib Versus Co-administration With DTPa-HBV-IPV/Hib

The purpose of this trial is to evaluate the immunogenicity and safety of a pneumococcal conjugate vaccine when co-administered with DTPa-IPV-Hib or DTPa-HBV-IPV/Hib in infants as a three-dose primary immunisation course during the first 6 months of life and as a booster dose at 11-12 months of age. The impact of the pneumococcal conjugate vaccine on nasopharyngeal carriage of S. pneumoniae and H. influenzae in children in their first two years of life will also be assessed. The Protocol Posting has been updated in order to comply with the FDA Amendment Act, Sep 2007.


Eligibility Criteria:
Inclusion Criteria:

* Subjects who the investigator believes that their parents/guardian(s) can and will comply with the requirements of the protocol (e.g., completion of the diary cards, return for follow-up visits) should be enrolled in the study.
* A male or female between, and including, 6-12 weeks (42-90 days) of age at the time of the first vaccination.
* Written informed consent obtained from both parents or from the guardian(s) of the subject.
* Free of obvious health problems as established by medical history and clinical examination before entering into the study.
* Born after a gestation period of at least 36 weeks.

Exclusion Criteria:

* Use of any investigational or non-registered product (drug or vaccine) other than the study vaccine(s) within 30 days preceding the first dose of study vaccine, or planned use during the study period.
* Concurrently participating in another clinical study, at any time during the entire study period, in which the subject has been or will be exposed to an investigational or a non-investigational product (pharmaceutical product or device).
* Chronic administration (defined as more than 14 days) of immunosuppressants or other immune-modifying drugs since birth.
* Planned administration/administration of a vaccine not foreseen by the study protocol during the period starting from one month (30 days) before and up to one month (30 days) after each dose of study vaccine.
* Previous vaccination against diphtheria, tetanus, pertussis, polio, hepatitis B, Haemophilus influenzae type b and/or Streptococcus pneumoniae.
* Children for whom hepatitis B vaccination is required according to the local recommendations
* History of or intercurrent diphtheria, tetanus, pertussis, hepatitis B, polio, Haemophilus influenzae type b disease.
* History of allergic disease or reactions likely to be exacerbated by any component of the vaccines.
* History of any neurologic disorders or seizures.
* Acute disease at the time of enrolment.
* Any confirmed or suspected immunosuppressive or immunodeficient condition based on medical history and physical examination
* A family history of congenital or hereditary immunodeficiency.
* Major congenital defects or serious chronic illness.
* Administration of immunoglobulins and/or any blood products since birth or planned administration during the study period.