cyrilzakka/clinical-trials huggingface dataset:
Genetic Determinants of Sudden Cardiac Death

To evaluate whether genetic variation in selected candidate genes is associated with risk of sudden cardiac death in the general population.

BACKGROUND Sudden cardiac death (SCD) affects 400,000 individuals each year in the U.S. alone. Over half have no evidence of heart disease prior to death, and our ability to identify those at risk and, therefore prevent SCD, is poor. Mutations in cardiac ion channel genes including SCN5A, KCNQ1, KCNH2, KCNE1, KCNE2 and RyR2 have been implicated in monogenic traits with high risk of SCD, such as the long-QT, Brugada, sudden infant death syndrome (SIDS), and catecholaminergic polymorphic ventricular tachycardia. Alterations in ion channel function can result in life-threatening ventricular arrhythmias in diverse disease states. Therefore, sequence variants in these genes that alter function or transcription of these ion channels may confer a predisposition to ventricular arrhythmia and SCD in broader populations.

DESIGN NARRATIVE This research program proposes to determine if sequence variants in the above and other candidate genes are associated with an increased risk of SCD in apparently-healthy populations. Cases of SCD will be assembled from 5 NIH-funded prospective cohorts with a total of 106,314 individuals with existent blood samples. All cohorts are exceptionally well-characterized with respect to environmental exposures and have collected medical records on cardiovascular endpoints. We will characterize all coding sequence variation and selected non-coding sequence variation among 100 cases and controls from these cohorts for the 6 genes. We will then employ a nested case-control design and conditional logistic regression to test for associations between haplotypes (haplotype tag SNPs) in both coding and non-coding regions of candidate genes and SCD risk. We will also test directly for associations between single loci that may have functional significance and SCD risk. An estimated 600 cases of well-documented SCD will be confirmed over the first 3 years of the grant period, and these cases will be matched on age, sex, ethnicity, and geographic location to two control subjects from the same cohort. In addition, based upon known sex difference in the phenotypic expression of the candidate genes in the primary arrhythmic disorders, we will specifically examine sex difference in the risk of SCD associated with sequence variation in these genes. The findings generated will have substantial implications for our understanding of the SCD syndrome and risk stratification in the general population.

Eligibility Criteria:
No eligibility criteria.
Social-emotional and Behavioural Problems of Healthcare Workers During the Outbreak

Healthcare worker mothers had to leave their children with their relatives out the fear of contagion and isolated themselves. The investigators aimed to explore the sleep, socioemotional and behavioural problems of children of healthcare workers; assess the psychological distress of mothers and their social support during the Severe Acute Respiratory Syndrome Corona Virus pandemic, and compare them with age-matched children and their mothers from other occupations.

Healthcare worker mothers had to leave their children with their relatives out the fear of contagion and isolated themselves. The investigators aimed to explore the sleep, socioemotional and behavioural problems of children of healthcare workers; assess the psychological distress of mothers and their social support during the Severe Acute Respiratory Syndrome Corona Virus pandemic, and compare them with age-matched children and their mothers from other occupations.

A case-control study design was applied, and a snowball approach was used to enrol volunteered participants aged between 6 to 36 months of age, through a Google survey. The investigators used Brief Infant Sleep Questionnaire and the Brief Infant-Toddler Social and Emotional Assessment questionnaire to assess children's sleep and socioemotional and behavioural problems respectively. A Multidimensional Scale of Perceived Social Support and a Brief Symptom Inventory were used to evaluate the social support and psychological distress of mothers.

Eligibility Criteria:
Inclusion Criteria:

* All women having children aged between 6 to 36 months of age,
* Parental Education above university level,

Exclusion Criteria:

* Out of age range,
* Parental Education below university level
* Didn't read the informed consent form and tick the mandatory consent box
The First Therapeutic Intervention in Malignant Pleural Effusion Trial

Fluid caused by cancer cells may accumulate in the lining of the lung. Draining the fluid with a chest tube may relieve pain and shortness of breath. To stop the fluid from coming back again, patients are given a medicine (talc) into the chest drain to seal up the space around the lung. This procedure is known as pleurodesis. This sometimes causes pain and discomfort, and the investigators do not know the best way of preventing this.

The investigators hope to find the best way to prevent pain during pleurodesis.

Patients with metastatic cancer often have fluid collecting around the lung as a result of cancer cells spreading to the membranes adjacent to the lung (malignant pleural effusion). The standard way of treating this condition, which may cause unpleasant symptoms such as breathlessness and cough, is to drain the fluid off and then seal the cavity, using a drug (talc) given into the chest drain. Talc causes inflammation in the lining of the lung and chest wall, sticking the two surfaces together and preventing fluid from recurring. This procedure is often very painful; the pain may be partly related to the size of the chest tube used and the type of analgesia taken by the patient during the procedure. Reducing the amount of pain associated with this procedure would be a substantial benefit for patients undergoing this procedure.

This trial is looking at which of two different drug regimens is more effective in preventing pleurodesis pain, and whether the size of chest tube influences pain. It will also address whether either of these influences success rate of pleurodesis.

We hope to learn whether the size of chest drain or the type of pain medication given (ibuprofen or morphine) influences the amount of pain felt after the pleurodesis procedure. We hope to find the best way of preventing pain during this procedure.

Eligibility Criteria:
Inclusion Criteria:

1. Clinically confident diagnosis of malignant pleural effusion requiring pleurodesis. The diagnosis may be established by one of:

   * Histologically proven pleural malignancy OR
   * Typical features of pleural malignancy seen on direct vision during thoracoscopy OR
   * Pleural effusion in the context of histologically proven cancer elsewhere
2. Expected survival more than 1 month
3. Written informed consent

Exclusion Criteria:

1. Age \< 18 years
2. Primary lymphoma or small cell lung carcinoma
3. Patients who are pregnant or lactating
4. Inability to give informed consent
5. History of GI bleeding or of untreated peptic ulceration
6. Known sensitivity to non-steroidal anti-inflammatory drugs (NSAIDs)/opiates/acetaminophen
7. Hypercapnic respiratory failure
8. Known intravenous drug abuse
9. Severe renal or liver disease
10. Known bleeding diathesis
11. Warfarin therapy
12. Current or recent (within 2 weeks) corticosteroid steroid therapy
Ovarian PRP Injection in Women With POR

Patients with poor ovarian response (POR）is considered one of most challenging tasks in artificial reproductive treatment (ART). Several retrospective studies have shown that platelet-rich plasma (PRP) is one of the proposed therapeutic strategies for women with POR. However, prospective randomized controlled trials are still lacking. This study aimed to evaluate the effect on intraovarian injection of autologous PRP in poor ovarian reserve prospectively.

It will be divided two groups of POR patients according to the treatment itself. One group was treated by intraovarian injection of autologous PRP, and the other was control. It will detect the function of ovarian reserve and IVF outcomes before and after treatment in both two groups. In addition, granulosa cells and follicular fluid before and after injection were collected for functional exploration experiments.

Eligibility Criteria:
Inclusion Criteria:

* 1) Women less than 43 years old and undergo IVF/ICSI; 2) AMH \< 1.1 and the number of follicles in bilateral antrum \< 7; 3) those who have obtained less than or equal to 3 follicles in conventional controlled ovulation cycle or whose diameter ≥ 14mm on the trigger day; or have a previous history of ovarian cyst removal; if the woman is less than 40 years old, she needs to meet the inclusion criteria 2 and 3 at the same time. If you are 40 years old or older, you can join the group if you meet the inclusion criteria 2 or 3.

Exclusion Criteria:

* 1) patients with clear indications or plans to undergo pre-embryo transfer genetic diagnosis (PGD) and preimplantation genetic screening (PGS); 2) patients with recurrent abortion who had more than 2 consecutive spontaneous abortions (including biochemical pregnancy); 3) men with azoospermia who underwent microsemen extraction; 4) benign ovarian cysts (endometriosis cyst, teratoma, etc.) found by B-ultrasound; 5) women with heart, liver and kidney insufficiency. 6) one of the husband and wife has chromosome abnormality; 7) the history of malignant tumor of the woman or the hereditary family history of the husband and wife 8) uterine anatomical abnormalities (including uterine adhesion, endometrial polyps, submucous myoma, uterine mediastinum, etc.) 9) untreated hydrosalpinx 10) uncontrolled endocrine abnormalities, including thyroid dysfunction, diabetes, etc. 11) other reasons that the researchers believe are not appropriate to participate in this study, such as positive for syphilis or HIV.
Sputum Labeling Utilizing Synthetic Meso-Tetra (4-Carboxyphenyl) Porphine (TCPP) for Detection of Lung Cancer

This is a single center study to assess the efficacy of CyPath® Early Detection Lung Cancer Assay to detect lung cancer cells from deep lung sputum.

Meso Tetra (4-Carboxyphenyl) Porphine (TCPP) is a porphyrin that can label cancer cells by reacting to the increased number of low-density lipoproteins coating the surface of cancer cells and the porous nature of the cancer cell membrane, causing the cell to fluoresce under specific wavelengths of light. The primary objective of this clinical trial is to determine the the presence or absence of red fluorescent \[ie, cancer\] cells (RFCs) from deep-lung sputum samples using the CyPath® Early Lung Cancer Detection Assay from one cohort of Participants who are healthy. The results from this trial will be compared with two additional cohorts of Participants including individuals at high risk for lung cancer and individuals diagnosed with lung cancer. Collection of the sputum samples from high-risk individuals and lung cancer patients is complete (NCT00894127).

Participants who satisfy the inclusion/exclusion criteria will be enrolled into the study and assigned to the healthy cohort. The sputum samples will be collected at the study site or at the Participant's home after explanation of the collection procedure by study staff. Samples will be identified with an identification number blinding the sample identity. Each subject's sputum specimen will be processed onto 13 microscope slides at the University of Texas Health Science Center of San Antonio (UTHSCSA) Laboratory. The UTHSCSA laboratory will process each sputum sample onto slides using the ThinPrep T2000 processor for use in the CyPath® Early Lung Cancer Detection Assay.

Twelve slides from each sputum sample will be labeled with CyPath®. One slide will be used to preform PAP staining for the presence of macrophages. Macrophages are an indication that the sputum sample is from deep within the lungs. A cytopathologist will review the slide and record results on a specimen adequacy form. bioAffinity researchers who will be blinded as to the Participant's identity will perform the CyPath® labeling and scoring of the slides. The study results of the healthy cohort will be used for comparison with the results of a closed study in which the sputum from individuals at high risk of lung cancer and individuals diagnosed with lung cancer was compared.

Findings of the CyPath® assay will not be used in the diagnosis or treatment of Participants.

Eligibility Criteria:
Inclusion Criteria:

* Participants who have never smoked nor have known lung diseases

Exclusion Criteria:

* Severe obstructive lung disease
* Angina with minimal exertion
* Pregnancy
* Have or have had cancer other than lung cancer
* Worked in the mining Industry
Study on the Brain Network of Angelman Syndrome

The aims of study on Angelman syndrome:

1. Establish the Angelman syndrome database
2. Explore the brain Network of Angelman Syndrome Based on Multi-modal Brain Image and Neural-EEG Data

1. The participants recruitment: from Chinese Angelman Syndrome Patients group (Angelhome : angelman225@126.com) and Children's Hospital of Fudan University.
2. Fistly all participants had clinically and molecularly confirmed as Angelman syndrome . All participants should entry the online questionnaries and carified by telephone or on site . All the information will be recorded in the Angelman syndrome database. Investigators will analyze and summarize the relationship of phenotype and genotype(n=200).
3. Participants who assigned the informed consent and will undergo the brain MRI inspection and Neural-EEG recording in the Children's Hospital of Fudan University. The healthy age- and sex-matched control participants will enrolled in the same hospital. The Investigators will explore the brain morphology and electrophysiological alterations and for Angelman syndrome (AS) children among the different genotypes（n=200）.

Eligibility Criteria:
Inclusion Criteria:

* Clinical and molecular diagnosis of Angelman syndrome.
* Agreed and completed the MRI scan and EEG-recording by using oral chloral hydrate.

Exclusion Criteria:

* Reject MRI scan and EEG-recording by using oral chloral hydrate or unable to complete the scan.
Pain Free Laceration Repairs Using Intra-nasal Ketamine

Lacerations are one of most common trauma in children presenting to the emergency department (ED). Currently, there are wide variations regarding sedation and analgesia practices when suture are required. Even though topical anesthesia is very useful to reduce pain, it does not obviate the use of pharmacologic agents to decrease stress in anxious children undergoing laceration repairs in the ED.

There is a growing interest in the intranasal (IN) route of administration in the pediatric population. It bypasses the first hepatic passage and thus provides medications direct access to the systemic circulation leading to higher and faster serum concentrations than would the oral route. Also, intravenous (IV) cannulation can be avoided reducing the pain associated with it and the need for nursing time and procedure delay. IN fentanyl and midazolam are two agents that can be combined for this procedure, but respiratory depression is a feared adverse effects. Ketamine is the most commonly used IV agent for procedural sedation, and can offer potent analgesia and sedation while maintaining respiratory drive and protective airway reflexes. Few studies have evaluated IN ketamine for procedural sedation. There is a wide range of dosing reported from 3 to 9 mg/kg. This raises the question as what is the lowest possible dosage that can be used to successfully repairs laceration in children with minimal restrain and no adverse events, as described by the Pediatric Emergency Research Canada (PERC)/ Pediatric Emergency Care Applied Research Network (PECARN) consensus.


Eligibility Criteria:
Inclusion Criteria:

1. Children aged 1 to 12 years;
2. Weight between 10 and 30 kg
3. Any laceration requiring sutures repair;
4. Need for procedural sedation according to the emergency physician assessment for the suture repair

Exclusion Criteria:

1. American Society of Anesthesiologists (ASA) physical status class III and more;
2. Previous administration of IV, IN or oral analgesics or opioid other than acetaminophen and ibuprofen;
3. Allergy or previous adverse reaction to ketamine;
4. Aberrant nasal anatomy or nasal trauma;
5. Presence of multiple trauma or eye rupture suspicion
6. Head injury with loss of consciousness, decreased Glasgow Coma Scale (GCS) or intracranial bleeding;
7. Cognitive impairment;
8. Known glaucoma;
9. Pregnancy
10. Language barrier
11. Known schizophrenia or psychotic event;
12. Uncontrolled hypertension;
13. Airway instability (tracheal surgery, tracheal stenosis, tracheomalacia, and laryngomalacia)
14. Active pulmonary infections (including upper respiratory infections)
15. Known or suspected cardiac disease
16. Known or suspected kidney disease
ColoRectal Cancer in India: catastrOphiC expenDIture and Referral Pathways infLuencE on Presentation and Treatment

Observational study to assess barriers for colorectal cancer treatment compliance in India, including quantitative assessment of catastrophic expenditure incidence and qualitative assessment of financial and non-financial barriers.

Objective: To identify a vulnerable group of colorectal cancer patients in India who cannot afford or are unable to comply with a treatment plan for colorectal cancer.

Aims:

1. To identify the proportion of CRC patients suffering catastrophic expenditure due to out-of-pocket payments for cancer treatment.
2. To determine the proportion of patients who are unable to comply with the treatment plan for CRC, at 6 weeks, 3 months and 6 months after diagnosis.
3. To identify barriers and solutions to CRC treatment compliance. Design: A mixed-methods study comprising quantitative pilot data from 3 tertiary cancer centres and qualitative work from interviews with patients and healthcare professionals.

Participants: Patients diagnosed with primary colorectal cancer.

Outcomes:

Primary outcome:

• Incidence of catastrophic expenditure due to out-of-pocket payments for cancer care at 3 timepoints: 6 weeks, 3 months and 6 months after CRC diagnosis.

Secondary outcomes:

* Compliance to the initial treatment plan at three timepoints: 6 weeks, 3 months and 6 months after CRC diagnosis.
* Patients and healthcare professionals perspectives on patient compliance to CRC treatment.
* Identify the 5 main drivers (items charged to the patient) of CRC treatment cost.
* Colorectal cancer stage at the time of diagnosis.

Eligibility Criteria:
Inclusion Criteria

* Adults aged 18+ years old. AND
* Consecutive new patients with a histopathology proven colorectal cancer for whom a CRC treatment plan is made:

  * In an multi-disciplinary team meeting (MDT);
  * OR in the outpatient clinic where an MDT is not available (surgery, oncology or radiotherapy outpatient clinic).

AND

• Undergoing treatment in the hospital where the MDT took place

Exclusion Criteria

* Patients with no histopathology available
* Telephone follow-up not possible
An Open Study of Foscarnet Treatment of Acyclovir-Resistant Herpes Simplex Virus in Patients With the Acquired Immunodeficiency Syndrome and Other Immunodeficiencies

To evaluate the safety and efficacy of intermittent intravenous (IV) foscarnet in the treatment of acyclovir-resistant herpes simplex virus (HSV) infections in AIDS patients and other immunocompromised patients. To evaluate the necessity, efficacy, and safety of IV maintenance foscarnet therapy in preventing recurrent disease. To confirm the pharmacokinetics of intermittent induction and maintenance IV regimens.


Eligibility Criteria:
Inclusion Criteria

Concurrent Medication:

Allowed:

* Cyclosporine.

Patients must have AIDS as defined by the CDC or be immunocompromised (transplant patients; other hematologic malignancies with recognized cell-mediated immune deficiency). Patients must also have herpes simplex virus (HSV) infection documented by culture and in vitro resistance to acyclovir by standard laboratory susceptibility or suspected resistance to acyclovir after an acyclovir treatment failure in which acyclovir was administered for at least 2 weeks intravenously at doses of 30 mg/kg/day (or a comparative dose adjusted for renal insufficiency). In vitro susceptibility data must be pending in the latter case. Patients must be able to give informed consent. Patients \< 18 years of age may participate with the consent of parent, guardian, or person with power of attorney, or through the provisions of state laws regarding emancipated minors. Patients must have expected survival of at least 6 months.

Prior Medication:

Allowed:

* Cyclosporin.
* Ganciclovir.

Exclusion Criteria

Co-existing Condition:

Patients with the following are excluded:

* Known allergy to foscarnet.
* Any clinically significant pulmonary or neurologic impairment (e.g., patients who are intubated or comatose).

Concurrent Medication:

Excluded:

* Any potentially nephrotoxic agent (except cyclosporine).
* Immunomodulators.
* Biologic response modifiers.
* Investigational agents.

Patients with the following are excluded:

* Known allergy to foscarnet.
* Any clinically significant pulmonary or neurologic impairment (e.g., patients who are intubated or comatose).

Prior Medication:

Excluded within 7 days of study entry:

* Any potentially nephrotoxic agent (except cyclosporin).
* Immunomodulators.
* Biologic response modifiers.
* Investigational agents.
Personality Traits and Its Impact on Quality of Life and Clinical Outcome Evaluation in Crohn's Patients

Quality of life is recommended as one of essential parameters to evaluate treatment effect and clinical outcome in patients with Crohn's disease (CD). Recent studies reported that several disease-unrelated variables may affect quality of life in CD patients. This study is dedicated to investigate the influence of various personality traits on quality of life, and whether or not they should be taken into account when evaluating clinical outcomes in patients with CD.

This is a prospective, single-center study.

All enrolled patients are divided into 2 groups:

* Group 1: quiescent CD group (CDAI≤150 points)
* Group 2: active CD group (CDAI\>150 points)

All enrolled patients are required to accomplish the following questionnaires at visit:

* Inflammatory Bowel Disease Questionnaire (IBDQ)
* Neuroticism (N) and Lie (L) subscale of the Eysenck Personality Inventory (EPI)
* Hospital Anxiety and Depression Scale (HADS)
* Buss-Perry Aggression (BPA) questionnaire

All questionnaires are translated and validated in Chinese population.

Eligibility Criteria:
Inclusion Criteria:

* 18-65 years old
* a definite diagnosis of CD

Exclusion Criteria:

* current or previous mental disorders
* receiving or once received psychotherapy
* presence of major medical conditions (such as necessity of an operation)
* chronic disease history other than inflammatory bowel disease
* unwilling to participate in or cannot accomplish current study