linjc16/ctgov huggingface dataset:
Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents

Study Overview
=================
Brief Summary
-----------------
Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic re-programing, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the spermatozoa of an SRS patient, which has important implication for genetic counseling.

Official Title
-----------------
Can Epimutations be Inherited? How to Manage Patients With Imprinting-related Diseases Who Wish to Become Parents

Conditions
-----------------
Epimutation

Intervention / Treatment
-----------------
* Genetic: pyrosequencing
* Genetic: Methylome


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Men who have been informed about the study Patients over 18 years old Fertile Matched for age with Silver Russel syndrome (SRS) patients Exclusion Criteria: Adults under guardianship Patients without national health insurance cover Patients with psychomotor development diseases or pulmonary, cardiac, renal or metabolic diseases (including type 1 and 2 diabetes before the pregnancy), inflammatory and systemic diseases, hypertension, neurological diseases, chronic hepatitis B or C, infection with human immunodeficiency virus (HIV).

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
Male

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| SRS patient<br> | Genetic: pyrosequencing<br> <br> Genetic: Methylome<br> <br> |
| father SRS patient<br> | Genetic: pyrosequencing<br> <br> Genetic: Methylome<br> <br> |
| control patient<br> | Genetic: pyrosequencing<br> <br> Genetic: Methylome<br> <br> |

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Analysis of levels of methylation of deoxyribonucleic acid (DNA) measured by cloning/ sequencing and/or pyrosequencing for genes susceptible to imprinting (GSI) |  | Through the study completion up to 1 month |
Buprenorphine Formulation Comparison: Sublingual Tablet vs. Solution - 1

Study Overview
=================
Brief Summary
-----------------
The purpose of this study is to compare subject response to liquid vs. tablet formulations, to assess bioequivalency of liquid vs. tablet, to compare subject preference, and to evaluate if dose response curve for tablet is equal to liquid form.

Detailed Description
-----------------
1) Compare subjects response to liquid vs tablet formulation 2) Assess bioequivalency of liquid vs tablet 3)Compare subject preference 4) Evaluate if dose response curve for tablet = to liquid form

Official Title
-----------------
Buprenorphine Formulation Comparison: Sublingual Tablet vs. Solution

Conditions
-----------------
Opioid-Related Disorders

Intervention / Treatment
-----------------
* Drug: Buprenorphine formulation: liquid vs. tablet


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: M/F ages 18-65. Meet DMS-IV criteria for opiate dependence. Agree to conditions of the study and sign informed consent. Exclusion Criteria: Pregnant or nursing women. Acute medical condition that would interfere with study participation or put safety of subjects in jeopardy. Current daily use of anti-convulsants, antabuse or neuroleptics. DSM-IV diagnosis of ETOH or sedative/hypnotics dependence.

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 65 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Quadruple


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Active Comparator: 1; liquid formulation<br>liquid formulation | Drug: Buprenorphine formulation: liquid vs. tablet<br>* random assignment to liquid buprenorphine or tablet buprenorphine<br>* Other names: Suboxone;|
| Active Comparator: 2; tablet formulation<br>tablet formulation | Drug: Buprenorphine formulation: liquid vs. tablet<br>* random assignment to liquid buprenorphine or tablet buprenorphine<br>* Other names: Suboxone;|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| blood level |  | across study duration | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| drug use |  | across study duration | 
| craving |  | across study duration | 
| withdrawal symptoms |  | across study duration | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
opioid dependence
The Effect of Balance Training on Neuromuscular Control in Subjects With CAI

Study Overview
=================
Brief Summary
-----------------
The goal of this study is evaluate the effect of uni-axial versus multidirectional balance training on muscle reaction time in subjects with chronic ankle instability. Muscle reaction time is measured on a trapdoor simulating an inversion sprain before and after a 6 week lasting balance training protocol.

Official Title
-----------------
The Effect of Balance Training on Neuromuscular Control in Subjects With CAI

Conditions
-----------------
Ankle Inversion Sprain, Instability, Joint, Treatment, Neuromuscular Control, Reaction Time

Intervention / Treatment
-----------------
* Other: Balance training


Participation Criteria
=================
Eligibility Criteria
-----------------
According to the consensus statement of the International Ankle Consortium Inclusion Criteria: History of an ankle sprain Repetitive ankle sprains AND feelings of instability AND giving way Ankle functionality is documented (not as inclusion criteria) Exclusion Criteria: Fracture Surgery equilibrium disorder

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 35 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Single


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Active Comparator: Uni-axial<br>Subjects in this group perform exercises on an uni-axial balance board | Other: Balance training<br>* 6 weeks lasting balance training program<br>|
| Active Comparator: Multidirectional<br>Subjects in this group perform exercises on a multidirectional balance board | Other: Balance training<br>* 6 weeks lasting balance training program<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| muscle reaction time | Muscle reaction of lower leg muscles is recorded during sudden simulated inversion sprain on a trap door | 6 weeks |
Family Impact of Polyhandicap: a Mixed Methodological Approach

Study Overview
=================
Brief Summary
-----------------
Polyhandicap (PLH) is a complex disability condition corresponding to a chronic affliction occurring in an immature brain, leading to the combination of profound mental retardation and serious motor deficit, resulting in an extreme restriction of autonomy and communication. In a preliminary work, we demonstrated that French families reporteda deterioration of the quality of life. This first study, based on a cross-sectional study and quantitative methods, did not allow to explore: 1) the dynamic aspect and the evolution over time of this experience, 2) the mechanisms underlying the difficulties encountered, the needs and expectations of families

Official Title
-----------------
Family Impact of Polyhandicap: Mixed Methodological Approach

Conditions
-----------------
Polyhandicap

Intervention / Treatment
-----------------
* Behavioral: qualitative study


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Familial caregivers: member of a family of a polyhandicapped person aged from 8 to 35 years old Patients: with severe polyhandicap defined by the combination of motor deficiency and intellectual impairment associated with everyday life dependence, restricted mobility and age at onset of cerebral lesion below 3 years old Written consent signed by caregivers for participation Exclusion Criteria: caregivers refusing to participate

Ages Eligible for Study
-----------------
Minimum Age: 8 Years
Maximum Age: 35 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Intervention/Treatment |
| --- |
|Behavioral: qualitative study|The qualitative approach will be based on content analysis of - Isemi-structured nterviews of families|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Qualite of life | WHOQOL-Bref | 5 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| interview content | semi-structured interviews | 2 hours |
Safety and Tolerability of SPD485 in Children Aged 6-12 Diagnosed With ADHD and Previously Participated in MTS Trials

Study Overview
=================
Brief Summary
-----------------
This study will evaluate the long-term safety of MTS in the symptomatic treatment of children aged 6-12 diagnosed with ADHD

Detailed Description
-----------------
Attention-Deficit/Hyperactivity Disorder (ADHD) is a psychiatric disorder characterized by 3 main symptoms: inattention, hyperactivity and impulsivity. This study will evaluate the long-term safety of SPD485 in the symptomatic treatment of children aged 6-12 diagnosed with ADHD

Official Title
-----------------
A Phase III, Multi-center, Open-label Study of Methylphenidate Transdermal System (MTS) in Pediatric Patients Aged 6-12 With Attention-Deficit/Hyperactivity Disorder (ADHD)

Conditions
-----------------
Attention Deficit Disorder With Hyperactivity

Intervention / Treatment
-----------------
* Drug: Methylphenidate Transdermal System


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Subject must have participated in and completed SPD485-201 or participated in and completed a minimum of five of the seven weeks of double-blind treatment in study SPD485-302. Subjects who are participating in N17-021 may enroll in this study following completion of the End of Study/Termination visit procedures. Females of childbearing potential must have a negative urine pregnancy test at Baseline and must abstain from sexual activity that could result in pregnancy, or use acceptable contraceptives. Exclusion Criteria: Subject was terminated from SPD485-102, SPD495-201, SPD485-302 OR N17-021 for non-compliance or experienced a serious adverse event resulting in termination from the antecedent protocols Female subject is pregnant or lactating

Ages Eligible for Study
-----------------
Minimum Age: 6 Years
Maximum Age: 12 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Methylphenidate transdermal system<br>MTS Patch 27.5mg, 41.3mg, 55mg, and 82.5mg for 7 Weeks | Drug: Methylphenidate Transdermal System<br>* MTS Patch 27.5mg, 41.3mg, 55mg, and 82.5mg for 7 Weeks<br>* Other names: MTS;|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Treatment emergent adverse events over 12 months. |  | Weekly | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| ADHD-RS-IV scores |  | Weekly | 
| Parent Global Assessment |  | Weekly | 
| Clinical Global Impressions Scale |  | Weekly | 
| Child's Sleep Habits Questionnaire |  | Weekly |
Treatment Outcomes of Advanced Neoplasia in IBD

Study Overview
=================
Brief Summary
-----------------
In this study, we aimed to (1) compare cumulative incidences of synchronous and metachronous colorectal neoplasia as well as mortality following AN in CD and UC patients who underwent proctocolectomy, (sub)total colectomy, partial colectomy or endoscopic resection, and (2) to determine factors associated with AN treatment choice.

Detailed Description
-----------------
In this retrospective multicenter cohort study, using PALGA (the Dutch nationwide pathology databank), partial colectomy yielded a similar metachronous neoplasia risk compared to (sub)total colectomy after treatment of advanced neoplasia in inflammatory bowel disease. High metachronous neoplasia rates after endoscopic resection underline the importance of strict subsequent endoscopic surveillance.

Official Title
-----------------
Endoscopic and Surgical Treatment Outcomes of Colitis-associated Advanced Neoplasia: a Multicenter Cohort Study

Conditions
-----------------
Inflammatory Bowel Diseases

Intervention / Treatment
-----------------
* Procedure: Endoscopic or surgical resection


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: IBD (ulcerative colitis (UC), CD or IBD-unclassified (IBD-U)) Histological diagnosis of colorectal AN Available treatment data Exclusion Criteria: Familial CRC syndrome AN prior to IBD diagnosis

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| IBD patients with advanced neoplasia<br>IBD patients with advanced neoplasia (high-grade dysplasia or colorectal cancer) treated with: proctocolectomy (sub)total colectomy partial colectomy endoscopic resection | Procedure: Endoscopic or surgical resection<br>* endoscopic or surgical (partial, (sub)total, proctocolectomy) resection<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Synchronous | defined as co-existence of two or more neoplastic colorectal lesions detected in the initial resection specimen or up to 6 months after treatment of the index lesion, categorized in (a) any neoplasia (independent of grade) and (b) only AN | up to 6 months | 
| Metachronous (advanced) neoplasia | defined as colorectal neoplasia detected >6 months after treatment of index AN, categorized in (a) any neoplasia (independent of grade) and (b) only AN, including the impact of IBD type | up to 30 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| All-cause mortality | All-cause mortality | up to 30 years | 
| Associations with treatment choice | Clinical and disease characteristics associated with AN treatment choice | up to 30 years |
Diagnostic and Screening Study of Genetic Disorders

Study Overview
=================
Brief Summary
-----------------
OBJECTIVES: I. Determine the phenotypic heterogeneity of patients with genetic disorders including their clinical spectrum and natural history. II. Develop and evaluate novel methods for the treatment of genetic disorders including metabolic manipulation, enzyme manipulation, enzyme replacement, enzyme transplantation, and gene transfer techniques in these patients. III. Develop and evaluate methods for the prenatal diagnosis of genetic disorders using improved cytogenetic, biochemical, and nucleic acid techniques and amniotic fluid cells or chorionic villi in these patients.

Detailed Description
-----------------
PROTOCOL OUTLINE: Patients are evaluated annually or biannually, depending on disease status and progression. Patients undergo a complete medical history, an extensive family pedigree, and a physical examination. Patients undergo general laboratory, imaging, physiologic, and clinical laboratory studies according to their disease type. Patients undergo specialized laboratory studies including plasma and leukocyte enzyme assays, quantitative urinary mucopolysaccharides and oligosaccharides, urine and plasma glycolipids, plasma and urine amino acids, urine organic acids, lymphoblastoid culture, DNA isolation from peripheral leukocytes, skin biopsy for fibroblast culture (if indicated), and medical photography. Patients also receive consultations with various specialties including ophthalmology, ENT, cardiology, pulmonary, gastroenterology/nutrition, hematology, neurology, orthopedics, rehabilitation medicine/physical therapy, and dermatology.

Conditions
-----------------
Tay-Sachs Disease, Porphyria, Erythropoietic, Leukodystrophy, Globoid Cell, Metabolism, Inborn Errors

Participation Criteria
=================
Eligibility Criteria
-----------------
Suspected diagnosis (homozygous or heterozygous) of a genetic disorder including, but not limited to, one of the following: Tay-Sachs disease (adult form) Congenital erythropoietic porphyria Galactosemia Mitochondrial myopathy Globoid cell leukodystrophy (Krabbe disease) Methylmalonic acidemia Isovaleric acidemia Morquio type A Glycogen storage disease type 1AB Ornithine aminotransferase deficiency Ceroid lipofuscinosis Glutaric aciduria type 1 Citrullinemia Other malformation syndromes, lysosomal storage disorders, or peroxisomal disorders

Ages Eligible for Study
-----------------
Minimum Age: 0 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------
What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
The Incidence and Nature of Adverse Events During Pediatric Sedation for MRI/CT in One Korean University Hospital: Prospective Study

Study Overview
=================
Brief Summary
-----------------
Sedation and anesthesia for which to perform diagnostic imaging represents a rapidly growing field of practice, especially in children. Propofol is the most common sedative drug administered for MRI/CT. However, this drug is associated with adverse events, including pulmonary complications, and there has been no report on these complications in Korea. In this prospective observation study, the investigators will report the nature and frequency of adverse events associated with propofol-based sedation for MRI/CT.

Conditions
-----------------
Children Requiring Sedation for MRI/CT

Intervention / Treatment
-----------------
* Drug: sedation with propofol


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: Requiring sedation for MRI/CT, aged 0- 18 years Exclusion Criteria: Parent refusal of participation

Ages Eligible for Study
-----------------
Maximum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| sedation group<br>Children requiring sedation for MRI/CT | Drug: sedation with propofol<br>* When a patient is admitted to the Pediatric Sedation Center, a presedation assessment is performed by hospitalists. Then Pediatric sedation is performed by protocol in the sedation unit. Data on demographics, primary illness, ASA, snoring history, URI symptom, medications used, procedure and recovery times, medication doses, outcomes of anesthesia, airway interventions and adverse events will be reported.<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Frequency of Adverse Events | The investigators will record all adverse events that are associated with pediatric sedation for MRI/CT | 24 hours |
The Effect of Acupuncture Treatment on the Perception of Pain and Coping With Pain

Study Overview
=================
Brief Summary
-----------------
The Purpose of this study is to evaluate whether cognitive and emotional components take part in the positive acupuncture effect on pain.

Detailed Description
-----------------
The effect of acupuncture on pain intensity has been already investigated and confirmed. Recent publication (Pariente J., et a., 2005) indicated that acupuncture may affect midbrain areas, that are associated with cognitive control of pain. The Pain Self Regulation Model (Levental, 1980)distinguishes between emotional response pain representations and cognitive pain representations. According to this model, emotional and cognitive pain representations leads to a new (cognitive or emotional) evaluation of the pain, that affects its perception and the ability to cope with it (Levental at al., 2001). This study will try to assess the hypothesis that acupuncture treatment is involved in this process. The study is designed as pilot study, limited to 45 patients.

Official Title
-----------------
Pilot Study on the Effect of Acupuncture Treatment on Pain Perception and on the Ability to Cope With Pain

Conditions
-----------------
Pain

Intervention / Treatment
-----------------
* Procedure: acupuncture


Participation Criteria
=================
Eligibility Criteria
-----------------
Inclusion Criteria: patients suffering from pain,who are reffered for acupuncture treatment,and consented to participate in this study Exclusion Criteria: children under 18 years of age

Ages Eligible for Study
-----------------
Minimum Age: 18 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
No

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Intervention/Treatment |
| --- |
|Procedure: acupuncture|nan|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
pain, acupuncture