Kornimate/medical-research-clean huggingface dataset:
respiratory muscle function in untreated x-linked myotubular myopathy (xlmtm)

Conditions: X-linked Myotubular Myopathy

Summary: this study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with x-linked myotubular myopathy (xlmtm) aged 0-14.

subjects aged 0-7 will be evaluated every six months for a total of three evaluations (baseline, six-month visit, twelve-month visit). subjects aged 8-14 will be evaluated every twelve months for a total of two evaluations (baseline, twelve-month visit). evaluations include medical history, physical exam, respiratory muscle tests, a qualitative interview related to the child's function and use of respiratory aids, and quality of life assessments.

Eligibility criteria:
inclusion criteria: * patients who have centronuclear myopathy resulting from an mtm1 genetic mutation. * patients who are between 0 and 14 years of age. exclusion criteria: * patients without a confirmed genetic mutation. * patients unable to travel to the site for the study. * patients participating in an interventional treatment study for xlmtm at the time of enrollment. * patients who are unable to complete study procedures. * patients who have a condition that, in the opinion of the investigator, would make participation in this study unsafe.

Keywords: myotubular myopathy respiratory muscles natural history
hypo-combi trial: hypofractionated ebrt plus hdr-bt boost for prostate cancer

Conditions: Prostate Adenocarcinoma; Radiation Toxicity

Summary: hypo-combi trial: a prospective phase i/ii study of combined hypofractionated external beam radiation therapy (ebrt) plus interstitial high-dose-rate brachytherapy (hdr-bt) for intermediate/high risk prostate cancer

the phase i/ii trial will prospectively assess the acute, early late and late gastrointestinal (gi), genitourinary (gu) and sexual toxicity of combined hypofractionated external beam radiation therapy (ebrt) plus high dose-rate brachytherapy (hdr-bt) schedule (total dose of ebrt 36 gy/ in 12 fractions of 3 gy plus hdr-bt with a total physical dose of 14 gy in a single fraction) for patients with unfavourable intermediate/high risk (based on nccn stratification guidelines) organ-confined prostate cancer, not requiring pelvic irradiation.

Eligibility criteria:
inclusion criteria: * the patient must consent to be in the study and must have signed an approved consent form * age \> 18 years old. * life expectancy of at least five years, excluding his diagnosis of prostate cancer. * histopathologically proven primary adenocarcinoma of the prostate * the patient must be registered within 180 days following the histopathological confirmation of the malignancy * prostate volume \< 80ml * international prostate symptom score (ipss) \< 18 * eastern cooperative oncology group (ecog) performance status ≤ 2 * patients with a history of non-prostate malignancies are eligible if they have been disease-free for 5 or more years prior to enrolment, are deemed by their physician to be at low risk for recurrence and they did not need pelvic radiotherapy as part of their treatment. patients with the following cancers are eligible if diagnosed and treated within the past 5 years: carcinoma in situ of the colon, melanoma in situ, and basal cell and squamous cell carcinoma of the skin. exclusion criteria: * histopathological confirmation or suspicion in conventional or molecular imaging of regional or distant metastases * prior pelvic radiotherapy * known autoimmune disorders (e.g. inflammatory bowel disease, lupus, scleroderma) * prior turp * mri non compatible metal implants * pre-existing fistulae * contraindication for general and spinal anaesthesia * inability to be placed in lithotomy position * any treatment with radiation therapy, chemotherapy, immunotherapy, biotherapy and/or hormonal therapy for the currently diagnosed prostate cancer prior to registration. * history of non-prostate malignancy, apart from patients that have been disease-free for 5 or more years prior to randomization and are deemed by their physician to be at low risk for recurrence. * psychiatric or addictive disorders or other conditions that, in the opinion of the investigator, would preclude the patient from meeting the study requirements.

Keywords: hdr-brachytherapy ebrt prostate cancer
diagnostic value of ultra-low dose thoracic scanner for the pulmonary arteriovenous malformation detection in hht patient

Conditions: Telangiectasia, Hereditary Hemorrhagic; Rendu Osler Disease

Summary: hereditary hemorrhagic telangiectasia (hht) is linked to a dysregulation of angiogenesis leading to the formation of arteriovenous malformations (avm): cutaneo-mucous telangiectasia and visceral shunts. the diagnosis is clinical and based on curaçao criteria: recurrent epistaxis, cutaneo-mucous telangiectasia, hereditary signs and presence of visceral avm. pulmonary avms (pavm) expose patients to many potentially life-threatening complications, such as strokes or brain abscesses due to the right-left shunt created and the lack of filtration barrier of the pulmonary capillary within the avm. these patients should therefore have regular monitoring throughout their life by a chest ct scanner every 5 to 10 years in the absence of pavm at the initial scan or more often if pavms are present. the management of pavms is based on their early detection and embolization in interventional radiology during which is set up within the afferent artery of the pavm an embolizing agent, the coil. however, the risk of cumulative irradiation exposure from thoracic scanners and repeated thoracic embolizations over time could be reduces by a decrease of x-rays dose. a new thoracic ct imaging protocol validated in the united states in the primary screening of lung cancer, the ultra-low dose protocol, is a ct scanner acquired at an irradiation dose equivalent to that of a frontal chest x-ray and in profile. the dose reduction is of 40 times the usual dose of a chest ct scanner. the lung parenchyma has a high natural contrast on thoracic ct images and there are few adjacent attenuating structures allowing a drastic reduction of dose. however, from this dose, the image quality is degraded with an increase of the image noise. the diagnostic performances have to be confirmed with qualitative and quantitative measurements. thus, the objective of this study is to compare the sensitivity and the specificity of the current scanner and the ultra-low dose scanner to reduce the exposure to x-rays.


Eligibility criteria:
inclusion criteria: * patient monitored for a clinically confirmed rendu-osler disease and / or confirmed by molecular biology, seen for an initial assessment or for a reassessment of pavm (after treatment or without treatment) * patient who agreed to participate in the study and signed the written informed consent * patient affiliated to a social security scheme or similar exclusion criteria: * women who are pregnant, nursing (lactating) or at risk of pregnancy (verified by a urine test before performing the scanner) * patient who is protected adults under the terms of the law (french public health code). * patient who has not or poorly understand french

Keywords: hereditary hemorrhagic telangiectasia (hht) diagnosis, arteriovenous malformation interventional radiology pulmonary arteriovenous fistulas embolization
implementing and evaluating the genie tool in copd

Conditions: COPD; Emphysema

Summary: the generating engagement in network involvement (genie) tool is designed to support people to find and join social activities in their own neighbourhoods. evidence has shown that people with more social support have increased ability to manage long term conditions and ill health. patients with chronic obstructive lung disease (copd) have difficulty breathing every day; this is both tiring and makes its difficult to socialise as they did prior to having their condition. copd can be managed with medicines, and exercise, but will never be cured, so it is considered a 'long term condition.' this study plans to use a social mapping tool (genie) with copd patients that are already part of the community service. the aim of the study is to increase opportunities to socialise and get day to day support outside of the health service. patients will be offered either the tool, or usual care. if the study is successful then use of health care may reduce in the copd patients already using the copd service.

the main aim here is to increase long term health care management options in solent nhs ( national health service) trust by building social capacity to support self-management. the genie tool will be introduced into the copd service to improve options for social groups and exercise when leaving a pulmonary rehabilitation group, or when clinically unable to participate in exercise. the implementation of the genie tool aims; * to build social networking awareness and the importance of utilising existing social resources in the professional and voluntary members of the copd service * to use social network mapping techniques and preference elicitation to engage copd patients in reflecting on their support preferences and needs, help them access further resources and knowledge * evaluate the success of the social mapping techniques (genie) in the copd patient population * evaluate the cost benefit to the health service of the genie in the copd patient population

Eligibility criteria:
inclusion criteria: * adults over 18 with a predominant diagnosis of copd * ability to understand spoken english * attending pr assessment/ enrolled in pulmonary rehabilitation (pr) or maintenance therapy * ability and capacity to make their own decision and consent freely exclusion criteria: * no clear copd diagnosis * inability to consent

Keywords: self-management supportive self-management normalisation process theory social networks
bendamustine and temsirolimus in patients with relapsed or refractory mantle cell non-hodgkin's lymphoma (nhl)

Conditions: Mantle Cell Lymphoma

Summary: the purpose of this study is to assess the safety, tolerability and activity of the combination of bendamustine and rituximab in patients with relapsed/refractory mantle cell lymphoma who are not eligible for high dose chemotherapy and autologous/allogeneic stem cell transplantation.


Eligibility criteria:
inclusion criteria: * age 18 years or older * mantle cell lymphoma according to real/who classification * first or second relapse or alternatively progression during therapy. previous use of bendamustine is permitted, if the patient has reached at least partial remission and progression occured more than 6 months after therapy. previous high dose chemotherapy with auto-sct is permitted, if the patient has reached at least partial remission and progression occured more than 12 months after therapy. * patients must not be eligible for high dose chemotherapy with auto-sct or allo-sct. * adequate bone marrow function (hemoglobin \> 9g/dl, platelet count \>100/nl, absolute neutrophil count \>1,5 /nl) * who/ecog performance status 0-2 * measurable disease (two perpendicular diameters by either physical or radiological examination) * life expectancy ≥ 3 weeks * written informed consent exclusion criteria: * prior treatment with any m-tor inhibitor * unstable or severe uncontrolled medical condition (e.g. severe congestive heart failure, myocardial infarction within the past 6 months, severe, uncontrolled arterial hypertension, renal insufficiency requiring hemodialysis, severe pulmonary disease, severe diabetes) * abnormal liver function: transaminases or total bilirubin \> 2 x upper limit of normal (uln) * abnormal renal function: serum creatinine \> 2 x upper limit of normal * previous malignancy other than non-melanoma skin cancer or carcinoma in situ of the cervix. * concurrent treatment with strong inhibitors of cyp3a4 and/or inducers of cyp3a4 * pregnant or breastfeeding women (negative pregnancy test not older than 7 days is required for women of fertile age). men and women of child-bearing potential must agree to use adequate contraception (i.e. failure rate \< 1% p.a. ) * major surgery within 4 weeks before study entry; minor procedures (e.g. implantation i.v. port catheter, lymphnode biopsy) within 1 week before study entry * previous therapy with any investigational agents within 28 days before study entry * concomitant immunotherapy (e.g. rituximab) or chemotherapy other than bendamustine. use of systemic steroids should be documented and the principal investigator be informed. * central nervous system (cns) lymphomatous involvement * hiv positivity * current or chronic hepatitis b or hepatitis c infection * severe psychiatric illness or individuals that are placed in an institution due to a magisterial or judiciary command. * inability to comply with study requirements

Keywords: relapsed mantle cell lymphoma refractory mantle cell lymphoma non-hodgkins lymphoma temsirolimus bendamustine phase 1/2
the study of lithogenesis processes in patients with non-alcoholic fatty liver disease (nafld)

Conditions: NAFLD; Urinary Lithiasis

Summary: non-alcoholic fatty liver disease (nafld) is the most common cause of chronic liver disease, ranging from pure steatosis to non-alcoholic steatohepatitis and ultimately to liver cirrhosis. in order to study the association between nafld and nephrolithiasis while minimizing the confounding effect of metabolic syndrome, we investigated the impact of different degrees of nafld severity on potential risk factors for stone formation.


Eligibility criteria:
inclusion criteria: * subject \>= 18 years old * able to sign the icf * liver biopsy with report compatible with nafld exclusion criteria: * alchol use \> 20g/die * other causes of liver disease * active neoplasm
self-help in adjunct to pharmacotherapy

Conditions: Attention Deficit Hyperactivity Disorder (ADHD)

Summary: therapist-led parenting interventions have been shown to reduce symptoms of attention deficit hyperactivity disorder (adhd) and are recommended as a first line treatment for school age children with adhd. however, parenting interventions can be costly and impractical for parents due to factors such as time constraints and travelling costs. a self-help parent training manual has been developed and initial results have shown moderate reductions in adhd symptoms, indicating that whilst self-help may offer a cost effective alternative to therapist led parent training interventions, it may not be sufficient to treat adhd alone. this study therefore aims to compare the efficacy and additional benefits of the self-help intervention plus treatment as usual including pharmacotherapy with a control treatment as usual group . families with a child aged 6-10 with a clinical diagnosis of adhd will be recruited to the study via referrals from community paediatricians and child and adolescent mental health services. after gaining informed consent subjects will be randomised to self-help plus treatment as usual (tau) + or tau (control). those allocated to tau+sh will be issued with the self-help manual and an introductory dvd to highlight key aspects of the intervention. self-help intervention will last for 12 weeks. data will be collected via standardised questionnaires completed by the parent, teacher and child and a recorded speech samples from the parent. data will be collected at three time points; pre-intervention, post-intervention (12 weeks) and as a long term follow up (28 weeks). after completing the trial, qualitative data will be collected about participants' experience of self-help intervention.


Eligibility criteria:
inclusion criteria: * parent/main caregiver aged 18 years or over. * children aged been 6-10 years who have received a clinical diagnosis of adhd. * children who are about to commence a course of medication for adhd for the first time or a currently receiving medication for adhd. exclusion criteria: * parents who are not fluent in english, or unable to read english. (due to copyright restrictions the self-help manual is only available in english.) * families who clinicians feel may be unable/incapable of completing the self-help intervention (e.g. where parents have severe mental illness) * parents who are aware that they have had previous experience of the nfpp

Keywords: parenting interventions adhd family functioning parent training
peripheral nerve ultrasound for diagnosis and prognosis of guillain-barre syndrome

Conditions: Guillain-Barre Syndrome

Summary: the purpose of this study is to determine if peripheral nerve ultrasound can be used as a supplemental tool to diagnose guillain-barre syndrome (gbs) in the acute setting and aid in prognostication.


Eligibility criteria:
inclusion criteria: * for gbs group: inpatients with acute, progressive weakness and no alternative diagnosis, with onset less than 30 days prior to examination. * for control group: hospitalized patients on the inpatient neurology service who are being treated for non-peripheral nerve disorders (e.g. epilepsy, multiple sclerosis, or stroke). * for all subjects: 18+ years of age exclusion criteria: - patients with any history of multifocal motor neuropathy (mmn), prior guillain-barre syndrome (gbs), chronic inflammatory demyelinating polyneuropathy (cidp), or hereditary neuropathy (e.g. charcot-marie-tooth)
comprehensive management for terminal heart failure program:

Conditions: Heart Failure

Summary: advanced heart failure presents with various symptoms, including pain, dyspnea, functional decline, reduced quality of life, and physiological deterioration, which can ultimately lead to spiritual distress. the functional losses experienced by patients-encompassing physical, social, and mental aspects-place a significant burden on caregivers, impacting their physical, mental, and spiritual well-being. this burden is further intensified by the stress of making major medical decisions, highlighting the need for palliative care that extends beyond the patient. addressing how to holistically support both patients and caregivers is a key focus of palliative care. studies have shown that integrating palliative care with heart failure treatment significantly improves patients' quality of life, as well as their comfort and dignity at the end of life. evidence from multiple studies demonstrates the benefits of palliative care for heart failure patients, including enhanced quality of life, reduced emergency department visits and hospitalizations, and increased participation in advance care planning discussions. consequently, national guidelines in several countries, including the united states and europe, recommend the early integration of specialist palliative care for heart failure patients. however, the optimal timing for intervention by palliative care specialists remains undetermined. this study aims to develop and assess the feasibility and effectiveness of the comprehensive management for terminal heart failure (comfort-hf) program. participants will be randomly assigned to either the experimental group, which will receive the comfort-hf model, or the control group, which will receive usual care. the implementation of the comfort-hf model involves heart failure case managers conducting screenings to identify patients for referral to a specialist palliative care team. once the shared decision-making process is initiated and both the patient and the primary heart failure care team agree, palliative care specialists and shared care nurses will collaborate with the heart failure team to provide comprehensive, coordinated care, including regular visits. the study aim to validate that the comfort-hf model produces positive outcomes for patients with advanced heart failure, making it a promising approach for broader implementation and promotion.


Eligibility criteria:
inclusion criteria: 1. congestive heart failure at stage c or d 2. age ≥ 18 years 3. able to communicate in chinese or taiwanese exclusion criteria: 1. pregnant women 2. patients who have previously received palliative care services

Keywords: palliative care heart failure
laparoscopic retrovesical colpopectinopexia

Conditions: Pelvic Organ Prolapse

Summary: the purpose of this study is to identify whether a new operative technic would be acceptable in female with pelvic organ prolapse.

a new operative technic use to treat pelvic organ prolapse in women. investigators plan to evaluate the results of procedure in the field of recurrence rate, effectiveness, mortality,morbidity and learning curves.

Eligibility criteria:
inclusion criteria: * all female with cystocele 1-2-3 grade? hysterocele 1-2 (pop-q) exclusion criteria: * rectocele more then 1 grade (pop-q) hysterocele more then 2
prehospital stroke study at the universitair ziekenhuis brussel i (pressub i)

Conditions: Stroke.

Summary: the pressub trial i will focus on prehospital telemedicine for patients with suspicion of acute stroke. the study is designed as a prospective monocentric observational trial on the safety, feasibility and reliability of in-ambulance telemedicine for patients with suspicion of acute stroke during transportation by the paramedic intervention team of the universitair ziekenhuis brussel.

as part of the prehospital stroke study at the universitair ziekenhuis brussel (pressub) project, the investigators have developed and tested several prototypes for prehospital telemedicine. the current system consists of commercially available hardware and a web-based telemedicine platform. the data are transmitted to a multimedia server unit over a mobile (ultra)broadband connection (3g or 4g). data privacy is secured by password-protected logins, role-based access control, and hypertext transfer protocol secure encryption. the results of a feasibility study using the 4g network in healthy volunteers have been reported and feasibility data using the 3g network in healthy volunteers are available (unpublished data). the investigators recently evaluated the safety, technical feasibility and reliability of in-ambulance telemedicine in patients during emergency missions by a paramedic intervention team of the universitair ziekenhuis brussel (feasibility study on ambulance-based telemedicine, fact) and yielded satisfactory results (paper under review, trial registered at clinicaltrials.gov: nct02119598). telestroke consultations should include standardized evaluation of key stroke features, which can be obtained by application of validated clinical scales (e.g. glasgow coma scale for evaluation of consciousness). prehospital assessment of stroke severity remains challenging and inspired researchers to develop adapted scales, among which the unassisted telestroke scale (utss). the utss has shown to be a rapid, simple, quantitative measure for the evaluation of stroke severity through telemedicine, without need for assistance from a third party at the patient's bedside. moreover, it has been shown that this scale can be used for ambulance-based telemedicine for emergent patient transportation. the pressub trial i builds further on the reassuring data obtained in a general patient population during emergency missions in the fact study and will focus on prehospital telemedicine for patients with suspicion of acute stroke only.

Eligibility criteria:
inclusion criteria: * emergency transportation by the paramedic intervention team of the universitair ziekenhuis brussel * age \>= 18 years * suspicion of acute stroke with symptom onset \<12 h or unknown, based on any of the symptoms mentioned in the belgian manual for medical regulation of pre-hospital care: hemiparesis, facial asymmetry, speech disturbance, sudden, severe headache, or confusion. exclusion criteria: * patients for whom telemedicine consultation would delay any diagnostic or therapeutic intervention.

Keywords: telemedicine prehospital emergency medicine stroke