cyrilzakka/clinical-trials huggingface dataset:
Child-Parent Familial Hypercholesterolemia Screening

Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease. The investigators assessed the efficacy and feasibility of such screening in primary care practice.

key scitific questions:

1. The 95th and 99th percentile of finger blood TC in children of 2 years old.
2. Mutations that contribute to high TC status ( serum TC \>99th percentiles) compared with international FH48 panel for FH genetc screening.

Familial hypercholesterolemia (FH) is an inherited condition resulting in high levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature coronary artery disease in men and women. Child-parent screening for familial hypercholesterolemia has been proposed to identify persons who are carriers of FH mutations and with high risk for inherited premature coronary artery disease. The investigators will conduct a cross-sectional community-based screening in children of 2 years old to detect FH children cases using finger blood TC test first and followed by serum TC test and mutation test, and to identify and diagnose their affected parents. This study aims to established the Child-parent screening program and technique issues for early diagnosis of familial hypercholesterolemia families for future early intervention.

Child-parent screening strategy in our study consists three steps: i. Apillary blood total cholesterol test of children aged around 2 years; ii. re-test for children with cholesterol\>95th percentile in the first step; iii. WES (whole exome sequencing) test for \>P99 in the first two steps. iV: TC test and mutation test to the parents of the child FH cases. The investigators will determine FH families based on the program. Children's Hospital of Fudan University will provide treatment further.

Eligibility Criteria:
Inclusion Criteria:

* Receive routine child care
* aged 1 - 3 years old ( date of investigate minus date of birth)

Exclusion Criteria:

* It is up to the researcher to decide whether it is suitable to participate in this research
Patients With Acl Injury and Varus Knee Will Undergo Acl Reconstruction Alone, or Combined With High Tibial Osteotomy in the Same Session.

The purpose of this study is to compare the results of single-stage anterior cruciate ligament reconstruction combined with high tibial osteotomy and anterior cruciate ligament reconstruction alone in knees with varus malalignment and anterior cruciate ligament deficiency. Evaluation will be clinically, radiologically and time needed to return to pre injury activity level. Our Hypothesis: Simultaneous anterior cruciate ligament reconstruction and high tibial osteotomy provides good functional scores, low rate of graft failure and early return to pre injury activity level with minimal added morbidity.


Eligibility Criteria:
Inclusion Criteria:

* Age between 20 and 50.
* Knee varus malalignment 7-10°.
* ACL injury with clinical anterior instability confirmed by MRI.

Exclusion Criteria:

* Osteoarthritis (Kellgren-Lawrence grade IV).
* Inflammatory joint disease.
* Knee flexion \< 120°
* Knee fixed flexion deformity \> 10°.
* BMI \>30
* Any ligamentous or meniscal knee injury other than ACL injury.
Anhydroglucitol in Children With Type 1 Diabetes

The investigators will measure blood levels of 1,5-anhydroglucitol in children with type 1 diabetes and correlate them with parameters related to functional beta-cell mass in diabetic patients. The values will be compared to those obtained in healthy volunteers. Children with newly diagnosed diabetes as well as children with longstanding disease will be included. The aim of the study is to test the validity of 1,5-anhydroglucitol as a novel biomarker of beta-cell mass and function in type 1 diabetes.

One-center prospective exploratory pilot study performed in collaboration between the Pediatric Endocrine and Diabetology unit of the University Hospitals of Geneva (HUG) and Prof. Pierre Maechler, Diabetes Center of the Faculty of Medicine, University of Geneva Switzerland.

1,5-anhydroglucitol (1,5-AG), a deoxyhexose present in almost all foods and forming a stable pool in human subjects, has recently been found to be correlated with functional beta-cell mass in two different mouse models of beta-cell dysfunction leading to diabetes. The decline of this biomarker precedes the development of hyperglycemia in lean b-Phb2 -/- and obese db/db diabetic mice, where beta-cell loss occurs through two different mechanisms.

Additional studies have shown a correlation of 1,5-AG levels with risk of progression of type 1 diabetes (T1DM) in auto-antibody positive children, as well as with glycaemic control in patients with type 2 diabetes.

The present project will analyse the correlation between functional beta-cell mass and the circulating levels of 1,5-AG in children with T1DM. This should contribute to the evaluation of a novel biomarker of beta-cell mass and function in T1DM.

Eligibility Criteria:
Inclusion Criteria:

* Type 1 diabetes with positive autoantibodies against islets, insulin, islet antigen 2 (IA2), glutamic acid decarboxylase (GAD) 65 or zinc transporter (ZnT)8.
* Treatment with continuous subcutaneous insulin infusion (CSII) with or without automated insulin delivery (AID).
* Monitoring with a continuous glucose measurement system (CGMS) or flash glucose monitor (FGM).
* Patient willing to keep the same type of CGMS or FGM during the year of observation
* Ability to give informed consent as documented by signature

Exclusion Criteria:

* Patients treated with multiple daily injections (MDI) or not willing to wear a CGMS of FGM
* Patients changing the type of CGMS during the course of the study.
C1 Esterase Inhibitor (C1INH-nf) for the Prevention of Acute Hereditary Angioedema (HAE) Attacks

The study objective was to determine the safety and efficacy of C1INH-nf for the prevention of acute HAE attacks.

Subjects were given diary cards and instructed to document all HAE attacks on a daily basis. Subjects evaluated their symptoms over the previous 24 hours, noting the severity and duration of swelling at each of 5 locations (abdominal, genitourinary, facial, respiratory \[including laryngeal\], and/or extremity).

The study design also allowed for administration of open-label C1INH-nf (1,000 U of C1INH-nf administered IV \[repeated after 60 minutes, if necessary\] for treatment of laryngeal angioedema or if deemed necessary by the investigator; 1,000 U of C1INH-nf administered IV \[single dose\] prior to emergency surgical procedures).

A total of 26 subjects were enrolled in the study. One subject received open-label C1INH-nf but withdrew prior to randomization. Another subject was randomized but withdrew prior to receiving study drug. Twenty-four (24) subjects were randomized and treated with blinded study drug. In total, 25 subjects received at least 1 dose of study drug and were analyzed for safety; all 25 subjects were exposed to C1INH-nf and 23 subjects were exposed to placebo.

Eligibility Criteria:
Inclusion Criteria:

* Documented HAE
* Normal C1q level
* Relatively frequent angioedema attacks (at least 2 per month on average)

Exclusion Criteria:

* Low C1q level
* B-cell malignancy
* Presence of anti-C1INH autoantibody
* History of allergic reaction to C1INH or other blood products
* Narcotic addiction
* Current participation in any other investigational drug study or within the past 30 days
* Participation in a C1 esterase inhibitor trial, or received blood or a blood product in the past 90 days
* Pregnancy or lactation
* Any clinically significant medical condition, such as renal failure, that in the opinion of the investigator would interfere with the subject's ability to participate in the study
Norepinephrine for Spinal-induced Hypotension

Norepinephrine (NE) infusion is used prophylactically to counteract the vasodilator effect of spinal anesthesia. prophylactic use of NE infusion is expected to decrease bouts of hypotension, vomiting and increase patient satisfaction


Eligibility Criteria:
Inclusion Criteria:

* All patients scheduled for elective surgery under spinal anesthesia

Exclusion Criteria:

* ischemic heart disease uncontrolled hypertension
The Effect of Minocycline and N-acetylcysteine for the Treatment of Fibromyalgia

Evaluation of the effect of combinatorial treatment of fibromyalgia patients (standard of care + minocycline + N-acetylcysteine (NAC) relative to standard of care on subjective pain measurement Revised Fibromyalgia Impact Questionnaire (FIQR).


Eligibility Criteria:
Inclusion Criteria

* Female
* Age 18 years or older
* Diagnosis of fibromyalgia for at least 6 months (confirmed by the modified 2010 ACR Diagnostic Criteria for Fibromyalgia Widespread Pain Inventory and Symptom Severity Scale)
* Currently on birth control or unable to become pregnant
* Willingness to avoid taking opioid and opiate medications during the duration of the study (5-6 months) Exclusion Criteria
* Known hypersensitivity to minocycline or tetracycline antibiotics or to N-acetylcysteine
* Current opioid therapy or planned initiation of opioid therapy
* Active pregnancy, lactation or plans to become pregnant in the next 6 months
* Significant hepatic disease as indicated by an AST or ALT greater than twice the upper limits of normal or bilirubin greater than twice the upper limits of normal
* Significant renal disease as indicated by an estimated glomerular filtration rate less than 60 mL/min/1.73m2 at baseline or during the first washout period
* History of autoimmune syndromes (systemic lupus erythematosus, myasthenia gravis, rheumatoid arthritis,
* History of intracranial hypertension or pseudotumor cerebri
* History of IBD (Crohns disease, ulcerative colitis), Clostridium difficile infection
* History of esophagitis, esophageal obstruction, achalasia or esophageal dysmotility
* History of GI hemorrhage or known risk factors for GI hemorrhage, such as esophageal varices, peptic ulcer disease, etc.
* Subjects taking divalent and trivalent cations such as oral iron supplements, certain dietary supplements (multivitamins) that contain manganese or zinc, or antacids that contain aluminum, calcium, or magnesium, which would decrease minocycline absorption
* Subjects taking anticoagulant medication since minocycline can decrease plasma prothrombin activity
* Subjects taking isotretinoin
* Subject taking ergot alkaloids for migraines
* Subjects taking penicillin antibiotics
* Subjects taking methoxyflurane containing products
* Subjects who work outdoors or otherwise have prolonged exposure to UV light and sunlight
* Lack of access to reliable technology to be able to complete emailed REDCap questionnaires
* Cognitive deficits that may make it difficult to adhere to the medication regimen or provide consistent and timely completion of questionnaires
* Inability or unwillingness to give informed consent
* Unwillingness to use two forms of birth control for the entire duration of participation in the study (if capable of becoming pregnant)
* Unwillingness to complete home pregnancy tests throughout the study (if capable of becoming pregnant)
* Inability to swallow large pills
Pulmonary Endarterectomy Guided by CT Scanning for Patients With Chronic Thromboembolic Pulmonary Hypertension----PEACT

This study is a effectiveness study of the application of high-definition enhanced computed-tomography for patients with chronic thromboembolic pulmonary hypertension(CTEPH).The patients with CTEPH was randomized into 2 groups,precise pulmonary endarterectomy group(guided by enhanced CT scanning) and traditional pulmonary endarterectomy group,the hemodynamic changes tested with right sided heart catherization from baseline to post-operative period and end-point including peri-operative deaths,follow-up mortality,follow-up parameters of ultrasonic cardiogram(UCG),right-sided heart catherization(RHC),nuclear magnetic resonance imaging(MRI),cardiac pulmonary exercise test(CPET) are documented,so as to compare the prognosis between these 2 groups.


Eligibility Criteria:
Inclusion Criteria:

* Definite diagnosed with chronic thromboembolic pulmonary hypertension with the right-sided cathrization and pulmonary angiography;
* The computed tomography imaging implied that the location of the embolism could be reached with surgeries;

Exclusion Criteria:

* Beyond the age limit described above,or combined with other severe conditions such as severe organ dysfunction and considered contraindicated for surgical therapy by the cardiac surgeons;
* Without the consent by the patient or his/her families;
* Acute pulmonary embolism;
* Pulmonary sarcoma;
* Pulmonary arteritis;
* Combined with cardiogenic pulmonary hypertension or idiopathic pulmonary hypertension;
A Study of Changes in Ki67 Expression in People With Breast Cancer Receiving Endocrine Therapy Before Surgery

The researchers are doing this study to look at changes in Ki67 expression after at least 2 weeks of endocrine therapy in people with ER+/HER2- breast cancer undergoing cancer removal surgery. Participants will receive the endocrine therapy before their surgery. The researchers will look at how changes in Ki67 expression compare between participants who are carriers of the BRCA2 mutation and participants who are noncarriers of the BRCA2 mutation.


Eligibility Criteria:
Inclusion Criteria:

* Postmenopausal women aged ≥18 years with biopsy-proven stage I-III invasive breast cancer that is ER+/HER2-
* Scheduled to undergo upfront surgery
* Eligible for genetic testing in accordance with National Comprehensive Cancer Network guidelines

Exclusion Criteria:

* History of breast cancer
* Receipt of ET for risk reduction in the previous 3 months
* Stage IV disease at presentation
* Scheduled to undergo neoadjuvant systemic chemotherapy
* Pregnant
Therapy and Outcome of Prolonged Veno-venous ECMO Therapy of Critically Ill ARDS Patients.

In the context of the coronavirus (COVID-19) pandemic, healthcare systems worldwide faced an unprecedented shortage of severe ARDS. Critically affected patients were treated with veno-venous extracorporeal membrane oxygenation (VV-ECMO) for complete respiratory failure early in the pandemic. Due to a shortage of resources in the sense of terminal equipment and adequately trained personnel with appropriate expertise in many countries and regions, a strict selection of suitable patients was made. Repeatedly, it was observed that patients under VV-ECMO also needed several weeks to recover sufficiently to generate device sufficient gas exchange. Due to the scarcity of VV-ECMO resources outside of the pandemic, the question arose whether a prolonged therapy still holds a sufficient prospect of success and what the course of treatment of such patients would be like.


Eligibility Criteria:
Inclusion Criteria:

veno-venous extracorporeal membrane oxygenation

Exclusion Criteria:

veno-arterial extracorporeal membrane oxygenation
18F-FAPIBiotin PET/CT: Dosimetry and Biodistribution Study

As a new dual targeting PET radiotracer, 18F-FAPI-Biotin is promising as an excellent imaging agent applicable to various cancers. In this study, we observed the safety, biodistribution and radiation dosimetry of 18F-FAPI-Biotin in patients with various types of cancer and compared them with the results of 18F-FAPI or 18F-FDG imaging to evaluate the dosimetric characteristics and diagnostic efficacy of 18F-FAPI.

Fibroblast activation protein (FAP) is highly expressed in the stroma of a variety of human cancers and is therefore considered promising for guiding targeted therapy. The recent development of quinoline-based PET tracers that act as FAP inhibitors (FAPIs) demonstrated promising results preclinically and already in a few clinical cases. Biotin is overexpressed in various tumor cells and underexpressed in normal cells. We assume that expanding molecular probes targeting FAPI and biotin with dual targets to enhance the targeting ability of the tracer, improve the sensitivity and specificity of tumor lesion detection. 18F-FAPI-Biotin is a novel dual targeting tracer. The present study aimed to evaluate the biodistribution, pharmacokinetics, and dosimetry of 18F-FAPI-Biotin, and performed a head-to-head comparison with 18F-FAPI or 18F-FDG PET/CT scans in patients with various cancers.

Eligibility Criteria:
Inclusion Criteria:

* Various solid tumors with available histopathological findings • Signed informed consent

Exclusion Criteria:

* pregnant or lactational women • who suffered from severe hepatic and renal insufficiency
Preference of Room Setting and Waiting Time in Patients With Advanced, Locally Advanced, or Metastatic Cancer and Their Caregivers Who Are Seen in the Outpatient Supportive/Palliative Care Center

This trial studies the preference of room setting and waiting time in patients with cancer that has spread to nearby tissue or lymph nodes or other places in the body and their caregivers who are seen in the outpatient supportive/palliative care center. Room setting preferences of patients and caregivers may help to understand their opinion regarding direct rooming system in the outpatient supportive/palliative care center.

PRIMARY OBJECTIVES:

I. To determine patients and caregivers preferences regarding the rooming process in outpatient supportive palliative care clinic, measured by the preference to exam room versus waiting area.

SECONDARY OBJECTIVES:

I. Patients and caregiver perceptions regarding room setting and waiting time in the outpatient supportive care clinic.

II. Extent/experience of team contact in the outpatient supportive care clinic. III. The factors associated with rooming preferences such as age, gender, symptom distress and performance status.

IV. The association between level of distress (physical, psychological, and spiritual distress as measured by Edmonton Symptom Assessment Scale (ESAS) and perception of usefulness of the visit to palliative care center.

V. The attitudes and beliefs toward usefulness of referral to outpatient palliative care.

VI. The correlation between the patient and caregivers preferences.

OUTLINE:

Patients and their caregivers complete a questionnaire over 15 minutes either in person or over the phone within 3 days after their supportive care center visit.

Eligibility Criteria:
Inclusion Criteria:

* Patient: Have advanced cancer, defined as locally advanced, metastatic or incurable disease.
* Patient: Seen at University of Texas M. D. Anderson Cancer Center (UTMDACC) outpatient Supportive Care Center for consultation (first visit).
* Patient: Provided informed consent.
* Patient: Can read and speak English or Spanish.
* Patient: Has a consenting caregiver at the time of the Supportive Care consultation visit.
* Caregiver: Provided informed consent.
* Caregiver: Can read and speak English or Spanish.
* Caregiver: Must be with consenting patient at the time of the Supportive Care consultation visit.

Exclusion Criteria:

* Patient: Delirium diagnosed by palliative care physician or nurse and/or Memorial Delirium Assessment Scale (MDAS) \>= 7 or dementia.
* Patient: Inability to read and speak English or Spanish.
* Patient: No caregiver at the time of Supportive Care consultation visit.
* Caregiver: Inability to read and speak English or Spanish.
Rate-limiting Amino Acids in Endurance-trained Athlete

Protein requirements in individuals who participate in endurance-based exercise training have been suggested to be greater than the current recommended dietary allowance (RDA).

The biological value of protein depends on the amino acid composition. As liebig's law of the minimum, the protein synthesis is limited due to the lack of single rate limiting amino acid. In this case, the first rate limiting amino acid determines protein intakes to maximize the protein synthesis. Adding a small amount of rate-limiting amino acid to the diet improves the biological value of its protein diet.

The indicator amino acid oxidation (IAAO) method has clarified the individual amino acid requirement in children, normal healthy adult and clinical populations. however, the IAAO method has never been utilized for determining the first rate limiting amino acid.

Therefore, the purpose of this study is to address of IAAO method to be applied for determining the rate-limiting amino acid in endurance athlete.


Eligibility Criteria:
Gender: Male

Age limit: Minimum age 18 years - Maximum age 35 years

Accepts Healthy Volunteers : yes

Inclusion Criteria:

* Endurance-trained participants who regularly more than 40 km/week
* Ability to perform the exercise stimulus (20 km run) on metabolic trial.

Exclusion Criteria:

* Inability to meet health and physical activity guidelines according to the physical activity readiness questionnaire (PAR-Q+)
* Inability to adhere to any of the protocol guidelines (i.e. alcohol, caffeine consumption)
* Regular tobacco use
* Illicit drug use
The Effect of Auricular Acupressure on the Improvement of Anxiousness, Depression and Heart Rate Variability in Stroke Patients

Heart rate variability (HRV) in post-stroke patients are closely related to patient mortality, neurological deterioration and overall prognosis. Anxiety and depression will demotivate the patients' will to undergo rehabilitation program, which would delay their functional recovery. The influence of acupressure over the auricle on the HRV, anxiousness and depressive mood have yet to be verified. The investigators aimed to study the effect on auricular acupressure treatment between the different trending of HRV, anxiety and depression and their correlations.

This is a randomized control study, consisted of 70 patients with post-stroke depressive mood, from both CGH and Xizhi Cathay hospital in Taiwan. HRV analysis is performed on the first 24 hours, and on a weekly basis for a total of 6 weeks. The included depressed patients were defined by the "Hospital Anxiety and Depression Scale" and weekly will be undertaken by the patients. A "Taiwanese Depression Questionnaire" pre-test and after-test will be undertaken by the patients. Experimental group will receive acupressure treatment by the second week, trice daily, 3\~5minutes each session for a course of four weeks. Data were analyzed using SPSS 20.0, using generalized estimating equation, GEE.

The study hypothesized that the auricular acupressure treatment would improve post-stroke depression. Therefore, participants would be more willing to receive rehabilitation program. Our study would also help to provide future references on related studies.


Eligibility Criteria:
Inclusion Criteria:

1. over 20 years old
2. Within 24 hours of arriving at the hospital with the first symptoms of stroke
3. Hemorrhagic stroke:nontraumatic hemorrhagic stroke and Intracerebral Hemorrhage score 0-1
4. Infarct stroke:National Institutes of Health Stroke Scale less than 30
5. Able to express themselves through oral or written communication
6. Hospital Anxiety and Depression Scale Score equal to or greater than 11

Exclusion Criteria:

1. Previous diagnosis of arrhythmia
2. Mental illness, dementia, Alzheimer's disease, or possible complete paralysis on imaging
3. Subarachnoid hemorrhage, subdural hemorrhage, epidural hemorrhage
4. Patients with acute myocardial infarction
5. There is a wound or lesion at the ear auricular point