Kornimate/medical-research-clean huggingface dataset:
safety and effectiveness study of rhgaa in patients with advanced late-onset pompe disease receiving respiratory support

Conditions: Pompe Disease (Late-onset); Glycogen Storage Disease Type II (GSD-II); Acid Maltase Deficiency Disease; Glycogenosis 2

Summary: pompe disease (also known as glycogen storage disease type ii) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (gaa). normally, gaa is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. in patients with pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. the overall objective is to evaluate the safety and efficacy of rhgaa in patients with advanced late-onset pompe disease.


Eligibility criteria:
inclusion criteria: * male or female aged greater than or equal to 18 years * patient's legally authorized guardian(s) must provide signed, informed consent prior to initiation of study; patient's signature required if patient understands informed consent * patient must have a documented deficit in acid alpha-glucosidase (gaa) activity , corresponding to the diagnosis of pompe disease confirmed by documented genotyping * patient presents with advanced documented symptoms of the disease defined as follows: patient is in a wheel chair and presents diaphragmatic dysfunction and requires invasive ventilation or non invasive ventilation (12 or more hours daily) exclusion criteria: * patient has received enzyme replacement therapy with gaa from any source * patient has taken an experimental drug in the 30 days prior to study enrollment, or is currently included in another study involving clinical evaluations; if this is the case, inclusion of the patient in the present study will be subject to prior agreement by genzyme * major congenital anomaly * clinically important organic disease (except for symptoms related to pompe disease) or any other medical condition, serious intercurrent illness, or other extenuating circumstance that, in the physician's opinion should preclude the patient's participation in the study or may reduce survival * pregnancy and breastfeeding (women of childbearing age must use a medically accepted method of contraception throughout the entire duration of the trial. male patients must use a medically accepted birth control method throughout the entire duration of the study)

Keywords: glycogen storage disease type ii gsd-ii pompe disease
real world study of chronic viral hepatitis

Conditions: Hepatitis, Chronic

Summary: this study is aimed to collect and analyze clinical data of patients with chronic viral hepatitis in the real world, to investigate the long-term outcome of these patients and to optimize treatment options based on these data.

chronic viral hepatitis is defined as infectious liver disease caused by persistent virus infection for more than six months. sustained viral replication and ongoing liver inflammation can eventually lead to liver fibrosis/cirrhosis or even hepatocellular carcinoma. chronic viral hepatitis infection causes at least 80% of all liver cancers. though chronic viral hepatitis is a major global health concern, there is still a lack of evidence in high quality about the management of chronic viral hepatitis and the long-term outcome of patients. the concept of real-world data and research has been officially introduced into china since 2010. real-world evidence, based on real-world data, can help practitioners have better understanding of the characteristics of the patients with different treatment strategies. this study is aimed to collect and analyze clinical data of patients with chronic viral hepatitis in the real world, to investigate the long-term outcome of these patients and to optimize treatment options based on these data.

Eligibility criteria:
inclusion criteria: 1. informed consent of patients. 2. evidence of persistent virus infection for greater than six months \[hepatitis c virus(hcv) rna positive, hepatitis b surface antigen(hbsag) or hepatitis b virus(hbv) dna positive\] exclusion criteria: 1. serious psychiatric history, especially depression. * severe mental illness is defined as major depression or psychosis, suicide attempts, hospitalization due to mental illness or a period of disability due to mental illness. 2. patients with serious diseases of heart, lung, kidney, brain, blood and other important organs. 3. patients with malignant tumors (excluding those cured).
a cognitive behavioral therapy and yoga program for trauma symptoms

Conditions: Stress Disorders, Post-Traumatic

Summary: the purpose of the proposed study is to evaluate the effectiveness of a cognitive behavioral therapy (cbt) and yoga program for improving posttraumatic stress disorder (ptsd) symptoms and sleep quality in people who have experienced a traumatic event and are reporting trauma symptoms.

the purpose of the proposed study is to evaluate the effectiveness of a cognitive behavioral therapy (cbt) and yoga program for improving posttraumatic stress disorder (ptsd) symptoms and sleep quality in people who have experienced a traumatic event and are reporting trauma symptoms. the total length of the program will be 8 weeks. the sessions will be held 3 hours per week with 1.5 hours of group cognitive behavioral therapy and 1.5 hours of yoga. changes in ptsd symptoms and sleep quality will be measured at baseline, immediately following the program, and at 2 month follow-up.

Eligibility criteria:
inclusion criteria: * clinically diagnosed posttraumatic stress disorder (ptsd) or subthreshold ptsd symptoms exclusion criteria: * current uncontrolled psychotic or bipolar disorder, significant cognitive impairment, substance dependence, non-english speaking, or a significant medical condition that would interfere with participation in the yoga portion of the program

Keywords: posttraumatic stress sleep
impact of pilates and myofascial release on women's chronic low back pain

Conditions: Low Back Pain

Summary: the aim of this study is to find out if reformer pilates and self-myofascial release are effective for pain and muscle function in women with chronic low back pain. investigators will also look at changes in quality of life. the main questions for the study are can reformer pilates and self-myofascial release reduce pain in participants? can reformer pilates and self-myofascial release change muscle function in participants? the researchers want to compare the effects of reformer pilates and self-myofascial release in women with chronic low back pain. participants will be group 1 perform reformer pilates and self-myofascial release exercises twice a week for 6 weeks, for a total of 12 sessions. group 2 perform reformer pilates exercises twice a week for 6 weeks, for a total of 12 sessions. participants will visit the pilates centre for an examination before and once after starting the programme. all groups perform a home exercise training programme for 15 minutes three times a week.


Eligibility criteria:
inclusion criteria: * people who have had chronic low back pain for 12 weeks or more * have a korean oswestry disability index (kodi) score of 17% or higher exclusion criteria: * patients with low back pain due to trauma, neurological lesions of the lower extremities, herniated disc lesions, hip, pelvic or abdominal surgery * patients who have received radiation or injections within the last 3 months, * pregnant women or patients who have given birth within the last year

Keywords: low back pain pilates myofasical release pain flexibility
relation between polymorphism in genes related to kidney disease and renal manifistations in fabry disease

Conditions: Fabry; Renal Disease

Summary: the rational of the study is to try to predict which of the patients who suffer from fabry disease will have end stage renal disease. we hope to find correlation between certain modifier genes, previously related to renal disease, to renal disease in fabry.


Eligibility criteria:
inclusion criteria:fabry disease - exclusion criteria:none -
the efficacy and safety of using intralesional 5-fluorouracil for basal cell carcinoma

Conditions: Basal Cell Carcinoma; BCC

Summary: the investigators want to assess the safety and efficacy of using intralesional 5-fu for the management of different types of bcc (including all the types except the infiltrative one), by estimating different outcomes after the intralesional administration of 5-fu to bcc patient. patients are randomly selected from the outpatient dermatologic clinic in the aleppo university hospital (auh) over a period of 12 months and then these patients are followed up over another 12 months.

brief description: the investigatorswant to assess the safety and efficacy of using intralesional 5-fu for the management of different types of bcc (including all the types except the infiltrative one), by estimating different outcomes after the intralesional administration of 5-fu to bcc patient. patients are randomly selected from the outpatient dermatologic clinic in the aleppo university hospital (auh) over a period of 12 months and then these patients are followed up over another 12 months. detailed description: clinicians routinely consider surgical removal as the best and sometimes the only cost-effective treatment of basal cell carcinoma, but several studies have discussed other promising treatment approaches for bcc including 5% 5-fu cream which is indicated for the treatment of superficial bcc, in addition many studies have investigated the efficacy of the combination of 5-fu with imiquimode or cryoablation presenting promising results, however when searching the medical literature there was only few studies dealing with types other than superficial bcc, in addition intralesional administration of 5-fu alone was not thoroughly assessed so far even though there are some studies showing positive results suggesting 5-fu to be a cost-effective alternative to surgical excision, but as these papers are asking for further studies and stronger evidence the invistigators decided to conduct this study in accordance with the best recommendations reached by latest medical literature.

Eligibility criteria:
inclusion criteria: * 5 years to 90 years (child, adult, older adult). * volunteer to participate in study * superficial lesion * nodular lesion (x ≤ 1.5 cm) patients are seen at the outpatient department or in the dermatology wards at aleppo university hospital (auh) over 12 months' period. exclusion criteria: * ulcerative. * nodular lesion (x ≥ 1.5 cm)

Keywords: surgical excision basal cell carcinoma clinical trail intralesional 5-fluorouracil
point of care optic nerve sheath ultrasound to assess intracranial pressure

Conditions: Optic Nerve Sheath; Hypertonic Saline

Summary: elevated intracranial pressure (icp) is one of the most common symptoms encountered in a variety of traumatic injuries and diseases. any tissue swelling within the rigid confines of the skull results in increased icp, which may lead to life-threatening structural alterations in the brain or cerebral blood flow, thus causing oxygen deprivation and ischemia in the brain. methods for icp monitoring can be divided into invasive and noninvasive approaches. in fluid-based systems, external ventricular drainage (evd) has been considered the gold standard. clinicians have found several noninvasive methods that can be used as surrogates for invasive methods for icp measurement. the optic nerve, as part of the central nervous system, is wrapped by the dural sheath. the optic nerve sheath (ons) is the continuation of the subarachnoid space at the optic nerve, and its tissues are connected with the subarachnoid space. thus, an increase in icp results in a corresponding elevation of the ons diameter (onsd). hypertonic solutions such as mannitol and hypertonic saline (hts) are recommended early in the management of ich after severe tbi . they provide therapeutic benefit along with a wide therapeutic margin. the most recent btf guidelines stated "although hyperosmolar therapy may lower intracranial pressure, there was insufficient evidence about effects on clinical outcomes to support a specific recommendation, or to support use of any specific hyperosmolar agent".


Eligibility criteria:
inclusion criteria: 1. patients who having isolated traumatized brain injury (not for surgical intervention) 2. 3\<gcs ≤ 12. 3. both genders. 4. age ≥ 18 and ≤ 60years. 5. physical status asa i - iii. 6. cut off value for optic nerve sheath diameter (onsd) as 5.5 mm to diagnose increase in icp\> 20 mm hg. 2. exclusion criteria 1. patients' first-degree relatives' refusal to sign the consent. 2. gcs (glasgow coma score) \>12 or gcs of 3. 3. contraindication to hypertonic saline: pregnancy, coagulopathy and cardiac dysfunction. 4. spinal cord injury, orbital injury, optic nerve injury and optic neuritis. 5. multi organ affection. 6. serum na level ≥ 150 mmol/l at admission to icu. 7. hypotension requiring vasopressors to maintain map above 60 mmhg.
a clinical comparison of proclear® 1 day multifocal and clariti® 1 day multifocal 3 add

Conditions: Myopia; Hyperopia; Presbyopia

Summary: the aim of this study is to compare the overall lens satisfaction between two soft multifocal contact lenses.

the aim of the study is to evaluate the overall lens satisfaction between two soft multifocal contact lenses when compared to each other after 15 minutes of daily wear each.

Eligibility criteria:
inclusion criteria: 1. they are at least 18 years of age. 2. they understand their rights as a research subject and are willing and able to sign a statement of informed consent. 3. they habitually use soft contact lenses (multifocal soft contact lenses, sphere lenses for monovision, sphere lenses for distance vision correction and spectacles for near vision correction,) and have done so for at least the past three months. 4. they have a minimum reading add of +0.75ds (based on their spectacle refraction) 5. they have spherical equivalent refractive error between +6.00 to -10.00ds at the corneal plane and refractive astigmatism of no greater than -0.75dc in each eye. 6. they are able to achieve distance hcva of +0.10 logmar or better in each eye. exclusion criteria: 1. they have an ocular disorder which would normally contra-indicate contact lens wear. 2. they have a systemic disorder which would normally contra-indicate contact lens wear. 3. they are aphakic. 4. they have had corneal refractive surgery. 5. they have any corneal distortion resulting from previous hard or rigid lens wear or have keratoconus.
patterns of care and outcomes of patients with metastatic gastrointestinal stromal tumors (metagist)

Conditions: Gastro Intestinal Stromal Tumor

Summary: gastro intestinal stromal tumors (gist) are rare mesenchymal tumors of the gastrointestinal tract characterized by somatic mutations in the gene encoding the kit or the pdgfr alpha protein1. treatment of localized forms relies on adequate surgery without tumor spillage and systemic treatment with imatinib according to risk of relapse defined by localization, tumor size and mitotic count, as well as mutational status. advanced and relapsing forms are currently treated with oral tyrosine-kinase inhibitors (tki) of kit and pdgfr such as imatinib, sunitinib and regorafenib. over two decades significant changes in drug discovery have impacted treatment strategies, notably via patient's access to various clinical trials. the use of focal treatments such as surgery or interventional radiology with mini invasive procedure of oligometastasis is also being proposed in some cases. there is no precise data on patterns of sequential treatments used, especially proportions of patients with metastatic gist eventually benefiting from access to a clinical trial or a focal treatment strategy in the course of their disease, and their results in terms of survival on a real life national level. using the french sarcoma group national database we aim at describing treatments strategies proposed patients with metastatic gist in the real life setting. objectives include : (i) description of clinico-biological profiles, patterns of care and modalities of treatment of patients with metastatic gist in a real-life national setting and (ii) evaluation of impact of each treatment line on patients outcome in terms of time to next treatment (tnt) and survival


Eligibility criteria:
inclusion criteria: * patients ≥ 18 years old * with a diagnosis of metastatic gastrointestinal stromal tumor (metastatic at diagnostic or metastatic relapse) * from 1990 to 2018 exclusion criteria: -
an evaluation of the medtronic gatekeeper system in the treatment of subjects with gastroesophageal reflux disease (gerd)

Conditions: Gastroesophageal Reflux Disease

Summary: the purpose of the study is to demonstrate the intended use of the gatekeeper reflux repair system to provide symptomatic relief is subjects with gastroesophageal reflux disease.

the purpose of the study is to demonstrate the intended use of the gatekeeper reflux repair system to provide symptomatic relief is subjects with gastroesophageal reflux disease

Eligibility criteria:
diagnosis and main criteria for inclusion: * subjects diagnosed with gerd with symptomatic improvement on ppis. * subjects who have demonstrated a baseline 24 hour ph ≥ 4% time with ph ≤ 4.0. * subjects with a baseline gerd-hrql heartburn score of ≤11 on ppi and ≥ 20 off ppi. diagnosis and main criteria for exclusion: * extensive barrett's esophagus (\> 2 cm). * esophagitis (la classification grades c or d). * previous history of gastroesophageal surgery, anti-reflux procedures, or gastroesophageal or gastric cancer. * large hiatal hernia (\> 3 cm). * current complaints of clinical dysphagia evidenced by greater than one occurrence per month. * esophageal strictures * esophageal or gastric varices

Keywords: gerd
efficacy study to evaluate buprenorphine hcl buccal film in opioid-naive subjects

Conditions: Low Back Pain

Summary: the purpose of this study is to determine if buprenorphine hydrochloride (hcl) buccal film is effective in treating opioid-naive subjects, with moderate to severe chronic low back pain (clbp), who require continuous around-the-clock (atc) pain relief for an extended period of time.


Eligibility criteria:
inclusion criteria: * diagnosis of moderate to severe low back pain for ≥6 months * treating clbp with a stable daily maintenance dose of non-opioid analgesic medication up to 10 mg morphine sulfate equivalents (mse) per day for ≥4 weeks. (additional as needed \[prn\] non-opioid analgesic medications permitted on top of the stable daily maintenance dose of non-opioid analgesic) * stable health, as determined by principal investigator * are female who are practicing abstinence or using a medically acceptable form of contraception or have been post-menopausal, biologically sterile, or surgically sterile for more than 1 year * willing and able to comply with all protocol required visits and assessments exclusion criteria: * current cancer related pain or received chemotherapy with 6 months of screening * receiving opioid analgesic medication \>10 mg mse per day within 28 days of screening * subjects with a history of other chronic painful conditions * reflex sympathetic dystrophy or causalgia, acute spinal cord compression, cauda equina compression, acute nerve root compression, meningitis, or discitis * allergy or contraindications to any opioid or acetaminophen * surgical procedure for relief of pain with 6 months * hypokalemia or clinically unstable cardiac disease, including: unstable atrial fibrillation, symptomatic bradycardia, unstable congestive heart failure, or active myocardial ischemia * qt interval corrected using fridericia's formula (qtcf) of ≥450 milliseconds on the 12-lead electrocardiogram (ecg) * history of long qt syndrome or a family member with this condition * moderate to severe hepatic impairment * moderate to severe renal impairment * current or past history of alcohol abuse * positive urine toxicology screen for drug of abuse * history or abnormalities on physical exam, vital signs, electrocardiogram, or laboratory values

Keywords: clbp chronic low back pain chronic pain back pain
a randomized clinical trial of the effect of pimecrolimus cream 1% compared with topical corticosteroid in treatment of erosive oral lichen planus

Conditions: Oral Lichen Planus

Summary: the purpose of this study is to compare the effect of topical pimecrolimus with adcortyl on erosive-atrophic 0ral lichen planus in a randomized clinical trial study.


Eligibility criteria:
inclusion criteria: * biopsy confirmed oral lichen planus in combination with a compatible clinical appearance was used for diagnosis. exclusion criteria: * unable to undergo oral biopsy for diagnosis * systemic diseases or malignancy * pregnancy * lesion/lesions with dysplasia/ history of allergic reaction to corticosteroids or immunomodulatory drugs. * lesions adjacent to amalgam filling were also excluded from this study.

Keywords: oral lichen planus treatment pimecrolimus
allogeneic hematopoietic stem cell transplant for epidermolysis bullosa

Conditions: Epidermolysis Bullosa

Summary: rationale: in animal models, stem cells have been shown to home to the skin and repair the biochemical and structural abnormalities associated with recessive dystrophic epidermolysis bullosa (rdeb) (collagen 7 deficiency). purpose: to determine the safety and effectiveness of stem cell infusion in the treatment of rdeb.

objectives: primary * estimate the incidence of detectable donor-derived collagen type vii at day 100 in patients with epidermolysis bullosa by donor. secondary * determine the incidence of transplant-related mortality at day 180 * determine the incidence of blood chimerism at days 21, 100, 180, 365, and 730 * determine the incidence of neutrophil recovery at day 42 and platelet recovery at day 180 * determine the incidence of acute graft-versus-host disease (gvhd) grade ii-iv and grade iii-iv at day 100 * determine the incidence of chronic gvhd at 1 year * determine the probability of survival at 1 and 2 years * determine the incidence of donor derived cells in the skin * determine resistance to blister formation outline: this is an open-label, pilot study. * conditioning regimen: busulfan intravenously (iv) over 2 hours every 6 hours on days -9 to -4, fludarabine phosphate iv over 1 hour on days -5 to -3, and high-dose cyclophosphamide iv over 1 hour on days -5 to -2. * stem cell transplantation on day 0. after completion of study treatment, patients are followed periodically for at least 5 years. projected accrual: 30 patients

Eligibility criteria:
inclusion criteria: * diagnosis of epidermolysis bullosa (eb) * documented collagen type vii deficiency by: * antigenic mapping (lh7.2 antibody) * ultrastructure analysis of anchoring fibrils * dna mutation analysis * performance status: \>50% lansky; \>50% karnofsky * adequate organ function * renal: glomerular filtration rate \> 60ml/min/1.73m2 patients aged ≤ 10 years * hepatic: bilirubin, aspartate aminotransferase/alanine aminotransferase (ast/alt), alkaline phosphatase (alp) \ 92% 4.2.4 cardiac: left ventricular ejection fraction \> 45%. * healthy related hematopoietic stem cell donor available and meeting 1 of the following criteria: * hla-a, b, drb1-identical sibling bone marrow and/or umbilical cord blood donor (first priority) * hla-a, b, drb1-matched or partially matched related donor (second priority) * donor may be a carrier but must be unaffected by eb * 8/8 hla a, b, c, drb1 allele level matched unrelated marrow donor (third priority) * 7/8 hla-a, b, c, drb1 allele level matched unrelated marrow donor or 4/6 hla-a, b (antigen level), drb1 (allele level) matched unrelated cord blood donor (fourth priority) exclusion criteria: * active infection at time of transplantation (including active infection with aspergillus or other mold within 30 days) * squamous cell carcinoma of the skin * history of human immunodeficiency virus (hiv) infection * prior transplantation with donor skin

Keywords: epidermolysis bullosa dystrophic epidermolysis bullosa