Participants will undergo germline genomic sequencing as part of consenting to the WU-PE-CGS program.

Participants will be given the option to receive the results from the genomic sequencing. After they consent to the study, the types of results available to them will be explained by research staff. Participants will be able to choose to receive: (1) no results, or any combination of (2) biomarker information from cancer cells, (3) inherited mutations related to cancer, and (4) inherited mutations related to other medical issues. These choices will be presented to them via a discussion with study staff with accompanying paper information

Participants will receive a novel return of results report that is tailored to their choices.

Return of Genetic Results: Biomarker information from cancer cells

Return of Genetic Results: Inherited mutations related to cancer

Return of Genetic Results: Inherited mutations related to other medical issues

Graham Colditz, M.D., DrPH, MPH

Bettina Drake, Ph.D., MPH

Li Ding, Ph.D.

Bettina Drake, Ph.D.

Ryan Fields, M.D.

Yin Cao, ScD, MPH

Feng Chen, Ph.D.

Patricia Dickson, M.D.

Eric Duncavage, M.D.

Mark Fiala, MSW

Aimee James, Ph.D., MPH

Reyka Jayasinge, Ph.D.

Kian-Huat Lim, M.D., Ph.D.

Erin Linnenbringer, Ph.D., MS

Jessica Mozersky, Ph.D.

Mary Politi, Ph.D.

David Spencer, M.D., Ph.D.

Tunji Toriola, M.D., Ph.D., MPH

Ravi Vij, M.D., MBA

Mark Watson, M.D., Ph.D.

Fei Wan, Ph.D.

Mike Wendl, DSC, MS, PHS

Matthew Wyczalkowski, Ph.D.

Stephanie Solomon Cargill, Ph.D., MSPH

단장증후군 환자를 위한 Eclipse XL1 시스템의 안전성과 효과를 살피는 치료 연구입니다.

All subjects will be assigned to the XL1 Coil treatment group.

The surgeon verifies the intestinal diameter and selects the appropriate device diameter size. The device is introduced into the lumen of the intestine and advanced about 5-10cm. The surgeon uses 4-0 chromic sutures placed in the seromuscular layer to secure the XL1 Coil within the intestine. The surgeon places metal clips on proximal and distal sutures and in the mesentery adjacent to the XL1 Coil ends to mark the location for radiologic evaluation. The surgeon releases the XL1 Coil and closes the enterotomy.

Distraction Enterogenesis in Adult Patients with Short Bowel Syndrome

모든 피험자는 XL1 코일 치료 그룹에 배정됩니다.

단장증후군 성인 환자의 장간막 형성술

Shweta Namjoshi, MD

Matthew Lin, MD

Anisha Abreo

Joseph Forrester, MD

Clarivet Torres, MD

Meghan Fitzgerald

Mark Puder, MD

Beth Cobb

Michael Helmrath, MD

Paul Wales, MD

단장증후군을 가진 성인 및 소아 환자에서 장 연장술을 위한 Eclipse XL1 시스템의 안전성 및 예상 효과를 평가하기 위한 타당성 연구

The participants in the intervention group will be added to a chat group in the Zalo app, created and managed by one investigator, which is named The Dementia Caregiver Support group. Weekly, the investigator will post one of the topics identified in Phase 1. Before posting the information, the investigator will ask the participants what topic they would like to read and discuss the week after by voting the answer. The posted information will be based on evidence-based resources and consulted by geriatricians, the neurologist, and the psychologist who specialize in dementia. Immediately after posting the topic, one investigator will call the participants to ensure they read and understand the post. The chat group monitor will also collect the questions or comments from the carers who are encouraged to share their feelings or experiences with relevant questions. Then the monitor will post the answers after consulting with the experts.

The intervention will be administered to the participants via a smartphone app (Zalo app). Weekly, the investigator will post one of the eight topics identified in Phase 1 in the chat room. After posting the topic, one investigator will call the participants to ensure they read and understand the contents.

Information including knowledge and skills related to dementia patient care

The participants will receive usual care, introduced to the website Alzheimer.org to search for eligible information.

Caregivers will be introduce to the website www.alzheimer.org to search for eligible information

Usual care

University of Medicine and Pharmacy at Ho Chi Minh City

Busulfan and fludarabine

Recommended schedule as below:

* Days -6 to -3: Busulfan ≥ 9 mg/kg total dose (IV or PO) with pharmacokinetic (PK) monitoring recommended as per institutional practice to achieve a daily area under the curve (AUC) target of 4800-5300 μM\*min47 or busulfan plasma exposure units (BPEU) 19.7-21.75 mg x h/L48.
* Days -6 to -2: Flu 30 mg/m2/day (adjusted for renal function) is administered over a 30-60 minute IV infusion (maximum cumulative dose, 150 mg/m2).

Conditioning Regimen A

Fludarabine and TBI The recommended fludarabine plus TBI regimen is the following:

* Days -7, -6 and -5: Flu (30 mg/m2/day, maximum cumulative dose, 90 mg/m2), IV
* Days -4 to -1: TBI (150 cGy administered twice daily, 1200 cGy total dose)

  * Radiation sources, dose rates, and shielding follow institutional practice.
  * Although not required, it is recommended that palifermin be used to mitigate the risk of mucosal toxicity with this regimen.

Conditioning Regimen B

Fludarabine and busulfan (Flu/Bu)

The recommended Flu/Bu regimen is the following:

* Days -6 to -2: Flu (30 mg/m2/day, recommended total dose of 150 mg/m2, but not exceeding 180 mg/m2), IV Busulfan options
* Days -5 to -4: Busulfan without PK - Busulfan 3.2 mg/kg/day IV or oral equivalent; total dose of 6.4 mg/kg IV or oral equivalent respectively
* Days -5 to -4: Busulfan with PK - target doses to AUC of 4000 μMol/min or BPEU of 16.43 mg x h/L (total BPEU of 65.72 mg x h/L) or less is allowed.

Conditioning Regimen C

Fludarabine and melphalan (Flu/Mel)

The recommended Flu/Mel regimen is the following:

* Days -7 to -3: Flu (30 mg/m2/day or 25 mg/m2/day, total dose of 125-150 mg/m2), IV
* Day -1: Mel (100-140 mg/m2 IV for recipients aged 18-59; dose of melphalan cannot exceed 100mg/m2 if age 60 or older or calculated glomerular filtration rate (GFR) is \<60 ml/min), IV

Conditioning Regimen D

Fludarabine/cyclophosphamide/total body irradiation (Flu/Cy/TBI)

The recommended Flu/Cy/TBI regimen is the following:

* Days -6 to -5: Cy (14.5 mg/kg/day IV, total dose of 29 mg/kg, or single dose 50 mg/kg on Day -6 \[Minnesota regimen\])
* Days -6 to -2: Flu (30 mg/m2/day, total dose of 150 mg/m2) IV
* Day -1: TBI 200 cGy single dose Hydration and Mesna may be administered per institutional standards. For recipients of RIC/NMA AND donors matched at \<7/8, consider the addition of TBI 200-300cGy for the Flu/Bu and Flu/Mel regimens to mitigate the risk of primary graft failure.

Conditioning Regimen E

* On Day 0, the donor PBSC graft is infused.
* Donor PBSC will be collected per NMDP/donor registry policies with a target viable CD34+ cell dose of at least 4 × 106 /kg recipient weight (actual, ideal, or adjusted ideal per institutional practice).
* Dose of CD34+ cells/kg and CD3 cells/kg infused will be recorded.
* If the donor PBSC graft is cryopreserved prior to the start of conditioning, follow institutional practices to ensure a sufficient cell dose is available for infusion after thawing.
* The graft cannot be manipulated ex vivo to deplete T cells.

Hematopoietic Cell Transplantation

Cyclophosphamide (50mg/kg ideal body weight (IBW); \[if actual body weight (ABW) \< IBW, use ABW\]) will be given on Day +3 (between 60 and 72 hours after the start of the PBSC infusion) and on Day 4 post HCT (approximately 24 hours after Day +3 cyclophosphamide). Cyclophosphamide will be given as an intravenous (IV) infusion over 1-2 hours (depending on volume), or according to institutional standards. Hydration pre- and post- cyclophosphamide and Mesna administration will be given per institutional standards.

No systemic immunosuppressive agents are given until at least 24 hours after the completion of the PTCy. This includes corticosteroids as anti-emetics but excludes any drugs listed in section 7.9.1.

Azoles (e.g., posaconazole or voriconazole) must be delayed from beginning of conditioning through completion of Day 4 PTCy dose to avoid potential drug-drug interactions with cyclophosphamide that could lead to increased toxicity.

PTCy (50 mg/kg D3, D4)

Tacrolimus will be given per institutional practices, at a dose of 0.05 mg/kg per os (PO) or an IV dose of 0.03 mg/kg of IBW starting on Day + 5. The dose of tacrolimus may be rounded to the nearest 0.5 mg for oral formulations. Subsequent dosing will be based on blood levels per institutional guidelines with a suggested range of 5-12 ng/mL. If subjects are on medications which alter the metabolism of tacrolimus (e.g., concurrent CYP3A4 inhibitors), the initial starting dose and subsequent doses should be altered as per institutional practices. Tacrolimus taper is recommended to be initiated at 100 days post HCT if there is no evidence of active GVHD and ended by Day + 180 post HCT.

Post-transplant Tacrolimus

MMF will be given at a dose of 15 mg/kg 3 times daily (TID) (based upon actual body weight) with the maximum total daily dose not to exceed 3 grams (1g TID, IV or PO). MMF prophylaxis will start Day + 5 and continue until Day + 35 post-transplant, at which time it should be discontinued (no taper necessary). Study site investigators may modify dose/taper early if clinically indicated for the study subject. Dose rounding may be done per institutional practice.

Post-transplant Mycophenolate mofetil

Granulocyte colony-stimulating factor (G-CSF) to accelerate neutrophil recovery should be administered starting at Day +5 with dose, route of administration, formulation, and duration of administration following institutional guidelines. Filgrastim biosimilars are permissible, but granulocyte-macrophage colony-stimulating factors are not permissible.

Supportive Care: Growth Factors

Transfusion thresholds for blood product support will be consistent with standard institutional guidelines. All blood products must be irradiated.

Supportive Care: Blood Products

Subjects should receive infection prophylaxis according to institutional guidelines and in accordance with the Center for Disease Control (CDC) guidelines49. Infection prophylaxis will include, but is not limited to, agents or strategies (e.g., polymerase chain reaction \[PCR\] screening and preemptive therapy) to reduce the risk of bacterial, viral (e.g., adenovirus, CMV, EBV, herpes simplex), opportunistic (e.g. Pneumocystis jirovecii, Toxoplasma gondii) and fungal (yeast and mold) infections.

Infection risk should assess patient-, pathogen-, and immune-related factors that increase susceptibility to infection. Minimal parameters requiring prophylaxis include but are not limited to neutropenia (ANC≤500/μL), lymphopenia (ALC≤500/μL), and exposure to immunosuppression or GvHD. Use of intravenous immunoglobulin (IVIG) should be considered for total IgG\<400 mg/dL during exposure to immunosuppression and/or GvHD.

Supportive Care: Infection Prophylaxis

Intravenous immune globulin (IVIG) administration will be according to local institutional standard practice for hypogammaglobulinemia but is generally not recommended.

Supportive Care: Intravenous immune globulin (IVIG)

Subjects will receive busulfan seizure prophylaxis with levetiracetam, fosphenytoin, or lorazepam per institutional guidelines.

Supportive Care: Seizure prophylaxis

The use of HLA-mismatched PBSC has been associated with greater risk of CRS relative to bone marrow. Following the infusion of MMUD PBSC on Day 0, subjects should be monitored daily through Day 14 for the development of CRS. High index of suspicion is urged, particularly in the few days following infusion. Many sites have successfully intervened with tocilizumab in order to avoid severe or prolonged CRS. Supportive care is encouraged for CRS Grades 1-2 and tocilizumab (or alternative) is recommended for CRS grade 3-4 where subject outcome may be impacted (Appendix G - CRS Guidance and Management).

Supportive Care: Monitoring and management of CRS

The administration of study agents must be recorded in the subject's medical chart for verification of study treatment compliance.

Study treatment compliance

Prophylactic anti-viral cellular therapies and/or co-enrollment on studies using therapies for the prevention of GVHD is prohibited.

Subjects reported to have received prohibited therapy while on this study will be withdrawn and will not be included in the primary and secondary analyses.

No concomitant systemic immunosuppressive agents can be administered during PTCy (Day 3 and Day 4). If needed, administer at least 24 hours after completion of Day 4 PTCy.

It is crucial that no systemic immunosuppressive agents are given until at least 24 hours after completion of the Day +4 dose of PTCy. This includes corticosteroids as anti-emetics but excludes tacrolimus and MMF. Steroid use is permitted as pre-medication prior to start of conditioning but is prohibited from Day 0 through 24 hours post Day 4 PTCy administration.

If prohibited therapies are administered, these data must be reported in the study EDC on the Concomitant Medications form.

Prohibited Concomitant Therapy

Pre-medication and/or treatment for possible AEs related to PTCy are permitted. Subjects may continue all medications in compliance with local treatment center and local institutional guidelines, except those described in Section 7.9.1. If GVHD or infection occurs, enrollment on a clinical trial to treat infection or GVHD is permissible. At time of relapse, patients are permitted to enroll on a clinical trial or receive disease targeted therapy.

The following medications/therapies must be reported on the study EDC Concomitant Medications form:

* Medications taken to treat adverse events that have been reported on the study EDC Adverse Event form.
* Antimicrobial prophylaxis (viral, bacterial, fungal, parasitic).
* Antimicrobial pharmaceutical and cellular therapies used to treat grade II-III infections per BMT CTN grading criteria (Appendix D - BMT CTN Infection Grading).
* Post HCT, primary malignant disease-directed pharmaceutical and cellular therapies.
* Planned maintenance therapy

Permitted Concomitant Therapy

Cyclophosphamide (25mg/kg ideal body weight (IBW); \[if actual body weight (ABW) \< IBW, use ABW\]) will be given on Day +3 (between 60 and 72 hours after the start of the PBSC infusion) and on Day 4 post HCT (approximately 24 hours after Day +3 cyclophosphamide). Cyclophosphamide will be given as an intravenous (IV) infusion over 1-2 hours (depending on volume), or according to institutional standards. Hydration pre- and post- cyclophosphamide and Mesna administration will be given per institutional standards.

No systemic immunosuppressive agents are given until at least 24 hours after the completion of the PTCy. This includes corticosteroids as anti-emetics but excludes any drugs listed in Table 4 and Table 5 in Section 7.1.

Azoles (e.g., posaconazole or voriconazole) must be delayed from beginning of conditioning through completion of Day 4 PTCy dose to avoid potential drug-drug interactions with cyclophosphamide that could lead to increased toxicity.

PTCy (25 mg/kg D3, D4)

Abatacept will be given at a dose of 10 mg/kg with a maximum of 1000 mg.

Post-transplant Abatacept

Consider monitoring for EBV reactivation during abatacept treatment and continue for six months following HCT.

Consider monitoring and prophylaxis for CMV infection/reactivation during abatacept treatment and for six months following HCT.

Supportive Care: Prophylaxis against infections

Treatment with any other Investigational Medicinal Product (IMP) is not allowed while on study treatment. An IMP is defined as any medication without any known FDA-approved indications.

No other investigational drugs for GVHD are allowed.

Premedication and/or treatment for possible adverse events (AE)s related to abatacept are permitted.

Ruxolitinib will be given at a dose of 5 mg/kg twice daily starting at Day 30 post HCT, provided both the absolute neutrophil count (ANC) is \> 1000/μl and platelet count is \>30,000/μl.

Post-transplant Ruxolitinib

For participants receiving ruxolitinib, the recommended maximum dose of fluconazole daily is 200 mg.

Assess lipid levels 8-12 weeks from start of therapy with ruxolitinib and treat as needed.

Supportive Care: Lipid elevations

Treatment with any other Investigational Medicinal Product (IMP) is not allowed while on study treatment. An IMP is defined as any medication without any known FDA-approved indications.

Concomitant use of ruxolitinib with fluconazole doses of greater than 200 mg daily should be avoided.

No other investigational drugs for GVHD are allowed.

Premedication and/or treatment for possible AEs related to ruxolitinib are permitted.

컨디셔닝 프로그램 A

컨디셔닝 프로그램 B

컨디셔닝 요법 C

컨디셔닝 요법 D

컨디셔닝 요법 E

조혈모세포 이식

이식 후 타크로리무스

이식 후 마이코페놀레이트 모페틸

보조 치료: 성장 인자

보조 치료: 혈액 제제

보조 치료: 감염 예방

보조 치료: 정맥 면역글로불린(IVIG)

보조 치료: 발작 예방

지지적 치료: CRS 모니터링 및 관리

연구 치료 순응도

금지된 병용 요법

허용되는 병용 요법

이식 후 아바타셉트

이식 후 룩솔리티닙

보조 치료: 혈중 지질 수치 상승

Center for International Blood and Marrow Transplant Research

혈액암 환자에서 비일치 비혈연 공여자 말초혈액 줄기세포 이식 후 사이클로포스파미드 기반 이식편대숙주질환 예방을 연구하기 위한 플랫폼 프로토콜

Participants in this arm will undergo the full diagnostic procedure under investigation. This includes :

* A blood sample collected for analysis by the investigational in vitro diagnostic device targeting biomarkers associated with bipolar disorder,
* Completion of validated psychiatric questionnaires, including the Mood Disorder Questionnaire (MDQ), used as clinical reference standards,
* Collection of sociodemographic and clinical data relevant to the psychiatric profile. This arm does not involve any therapeutic intervention. The objective is to evaluate the diagnostic concordance between the blood test and psychiatric screening tools.

Participants will undergo a venous blood draw for analysis by an investigational composite medical device designed to aid in the diagnosis of bipolar disorder. The device analyzes specific circulating biomarkers hypothesized to differ between patients with bipolar disorder and those with unipolar depression.

Venous blood sample for measuring blood biomarkers related to bipolar disorder

Participants will complete validated psychiatric screening tools used as reference standards to evaluate bipolar disorder, including the Mood Disorder Questionnaire (MDQ). These tools will be used to compare their diagnostic output with that of the investigational blood test.

Standardized psychiatric assessment tools

Raoul BELZEAUX

뇌경색과 당뇨를 가진 환자에게 전통 중의학 치료의 장기 효과를 관찰하는 연구로, 환자의 신경 손상과 생활능력 개선을 평가합니다.

On the basis of standard treatment, a combined treatment plan of TCM universal treatment and syndrome-specific treatment was given.

TCM universal treatment plan:

(Intensive treatment) Chuanzhi Tongluo Capsules (Lunan Pharmaceutical), 4 capsules each time, orally, 3 times a day; administration from day 1 to day 14 of the disease.

(Sequential treatment) Chuanzhi Tongluo Capsules (Lunan Pharmaceutical), 2 capsules each time, orally, 3 times a day; administration from day 15 to day 365.

TCM decoction: Individualized herbal decoction based on TCM diagnosis (four diagnostic methods), administered for 14 days during intensive phase.

4 capsules each time, orally, 3 times a day; administration from day 1 to day 14 of the disease.

(Intensive treatment) Chuanzhi Tongluo Capsules

2 capsules each time, orally, 3 times a day; administration from day 15 to day 365.

(Sequential treatment) Chuanzhi Tongluo Capsules

Individualized herbal decoction based on TCM diagnosis (four diagnostic methods), administered for 14 days during intensive phase.

TCM Syndrome Differentiation Decoction

Guideline-based treatment for cerebral infarction with diabetes: aspirin (100 mg/day) + clopidogrel (75 mg/day) + atorvastatin (20 mg/day) + metformin (500 mg bid). Other antiplatelet/antidiabetic drugs may be added per clinician discretion.

Combination therapy including: 1. Antiplatelet: aspirin 100 mg/day + clopidogrel 75 mg/day. 2. Lipid-lowering: atorvastatin 20 mg/day. 3. Antidiabetic: metformin 500 mg bid (max 2000 mg/day). \*Doses may be adjusted per local guidelines or patient tolerance.

Standard Treatment (Guideline-Based)

Guangzhou University of Traditional Chinese Medicine

Participants will be asked to attend 35 minute, remotely delivered, group exercise classes using choreographed exercise twice a week for 12 weeks.

Adults with Down syndrome will be asked to attend 35 minute, remotely delivered (Zoom®) group dance sessions twice weekly across 12 weeks. All sessions will be directed by an instructor experienced in leading 35 minute, group remote exercise sessions for individuals with intellectual disability as part of the ongoing exercise program for individuals with intellectual disability offered by the Division for Physical Activity and Weight Management.

Decreasing Alzheimer's Risk Through oNline Choreographed Exercise - Down Syndrome Program

Subjects in the intervention group will receive personalised dietary advice \& educational materials from a renal dietitian for retarding CKD progression (low salt, moderate protein) with additional focus on including more non-/minimally processed plant-based foods. Food recommended would be those easily obtained

Predominantly Plant-Based CKD Diet

Subjects in the control arm will receive advice from a renal dietician for general healthy eating for retarding CKD progression (low salt, low-moderate protein intake). No specific advice on percentage of protein intake contributed to by plant-based protein will be given.

Standard CKD Diet

Saradha Anantharaman, MBBS, MMed Internal Medicine

다운증후군 아동을 대상으로 2개월간 드럼 레슨이 자기 통제력과 타이밍 기술 향상에 미치는 영향을 연구하는 시험입니다.

Experimental group will receive the drumming lesson intervention between baseline and testing approximately 2 to 3 months later, so the effects of the intervention can be assessed in the lab measures.

Drumming lessons consisting of how to use hands to drum on djembe drum, using alternating hands to drum, drumming to a metronome and to music.

2 months of drumming lessons given by a professional drummer with extensive experience working with children with Down syndrome

Children in the Control condition will receive drumming lessons only after they have completed lab baseline and testing measures, about 2 to 3 months later.

Receiving lessons after the two lab visits should still offer any possible positive effects to participants while still allowing us to compare the Control group children's behaviors to those of the Experimental group.

유전자 검사 결과 반환: 암세포의 바이오마커 정보, 유전자 검사 결과 반환: 암과 관련된 유전적 돌연변이, 유전자 검사 결과 반환: 기타 의학적 문제와 관련된 유전적 돌연변이

단장증후군을 가진 성인 및 소아 환자에서 장 연장술을 위한 Eclipse XL1 시스템의 안전성 및 예상 효과를 평가하기 위한 타당성 연구

치매 환자 치료, 일반적인 치료와 관련된 지식 및 기술을 포함한 정보

혈액암 환자에서 비일치 비혈연 공여자 말초혈액 줄기세포 이식 후 사이클로포스파미드 기반 이식편대숙주질환 예방을 연구하기 위한 플랫폼 프로토콜

양극성 장애와 관련된 혈액 바이오마커 측정을 위한 정맥혈 샘플, 표준화된 정신과적 평가 도구

(집중치료) 천지동락캡슐, 표준치료(지침기반), (순차치료) 천지동락캡슐, 중의학 증후군 감별탕

온라인 안무 운동을 통해 알츠하이머병 위험을 줄이는 방법 - 다운증후군 프로그램

주로 식물성으로 구성된 만성 신장 질환 식단, 표준 만성 신장 질환 식단

다운증후군 아동 지도 경험이 풍부한 전문 드러머가 진행하는 2개월 드럼 레슨. (측정 후 레슨 시작)