Kornimate/medical-research-clean huggingface dataset:
safety study of rhasm enzyme replacement therapy in adults with acid sphingomyelinase deficiency (niemann-pick disease)

Conditions: Acid Sphingomyelinase Deficiency; Niemann-Pick Disease

Summary: the purpose of this study is to determine the safe range of single doses of rhasm administered to adults with asm deficiency.

asm deficiency (asmd), also known as niemann-pick a and b disease, is a rare genetic disorder in which reduced activity of the lysosomal enzyme, asm, leads to the accumulation of sphingomyelin primarily in macrophages throughout the body. this deficiency results in characteristic features such as hepatosplenomegaly, thrombocytopenia, interstitial lung disease, growth retardation, coronary artery disease, fatigue, and in severe cases, neurodegeneration with death in early childhood. there is no specific treatment for this disease. this phase 1 safety study will seek to enroll a minimum of 12 and a maximum of 30 eligible adults patients with asmd with each patient participating for approximately 7 weeks.

Eligibility criteria:
inclusion criteria: * signed, informed consent by the patient or legal guardian prior to performing any study-related procedures; * have ≤ 0.2 nmol/hr/mg protein asm activity in peripheral leukocytes, as measured by the reference laboratory; * have a diffusing capacity (dlco) \> 30% of the predicted normal value; * have a spleen volume ≥ 2x normal * female patients of childbearing potential must have a serum pregnancy test negative for β-hcg and agree to use a reliable birth control method for the duration of the study. exclusion criteria: * is pregnant or lactating; * has received an investigational drug within 30 days prior to study enrollment; * has a medical condition, including serious intercurrent illness, active hepatitis b or c or human immunodeficiency virus (hiv) infection, cirrhosis, \> stage 3 liver fibrosis, inr \>1.5, platelet count \ 40 mm hg, moderate or severe valvular dysfunction, or \< 40% left ventricular ejection fraction by echocardiography (echo)), or any other extenuating circumstances that may significantly interfere with study compliance including all prescribed evaluations and follow-up activities; * has had a major organ transplant (e.g. bone marrow or liver); * has had a total splenectomy; * has an alanine aminotransferase (alt) or aspartate aminotransferase (ast) value \>250 iu/l or a total bilirubin \>3.6 mg/dl; * is unwilling or unable to avoid the use of alcohol, medications that may decrease rhasm activity, medications or herbal supplements that may cause or prolong bleeding, and the use of medications or herbal supplements with potential hepatoxicity within 14 days prior to and 28 days afte the rhasm infusion.

Keywords: acid sphingomyelinase deficiency niemann-pick disease lysosomal storage disorder enzyme replacement therapy treatment
adverse events in acute limb ischemic patient undergoing revascularization

Conditions: Major Adverse Cardiac Events; Adverse Effect of Unspecified General Anesthetic

Summary: acute limb ischemia is one of the devastating vascular emergencies that lead to life and limb loss if the appropriate treatment is not reached.the revascularization is a cornerstone in treating acute limb ischemia. the conventional surgical approach includes surgical embolectomy and surgical bypass.from the anesthetic aspect, this emergency condition limits the lengthening cardiovascular assessment of this high-risk patient group which might lead to the uncertainty outcome.with the variety of patients and procedures, we sought to find out the perioperative adverse events, especially major adverse cardiac events, in acute ischemic limb patients undergoing revascularization, in order to increase awareness of the team and properly admit to icu in a retrospective manner.


Eligibility criteria:
inclusion criteria: * age more than 18 years * undergoing revascularization surgery or procedure (surgical revascularization, endovascular revascularization, hybrid revascularization, catheter directed thrombolysis) exclusion criteria: * incomplete data during perioperative period
single doses gsk159797 on patient safety and lung function in patients with mild to moderate asthma

Conditions: Pulmonary Disease, Chronic Obstructive

Summary: this study was designed to test safety aspects and effects on lung function of a new dry powder version of gsk159797 for asthmatic subjects to inhale. this will allow comparison with previous studies which have only used inhalation of the drug as a vapour.


Eligibility criteria:
inclusion criteria: * subjects with mild to moderate stable asthma but no other lung problems. * male subjects or females who are not able to get pregnant (e.g. post-menopausal or surgically sterile). * non-smokers. * subjects that show a measurable improvement in the function of their lungs after a single dose of salbutamol. exclusion criteria: * any significant illness. * subjects with heart problems. * subjects who have had a cold or chest infection 2-4 weeks prior to the study. * subjects who take medication for their asthma, or other conditions, not compatible with the study.

Keywords: inhaled asthmatic subjects gsk159797 safety and tolerability efficacy dry powder
natural history and patient journey in atrial fibrillation: a nationwide linked electronic health records study of 5.6 million individuals.

Conditions: Atrial Fibrillation; Epidemiology

Summary: the trajectory of atrial fibrillation (af) patients within the national health system and their recent temporal trends remains to be fully elucidated. to study the af incidence, mortality and case-fatality, the investigators implemented a longitudinal cohort study with the linked electronic health records of 5.6 million population in the uk from 1998 to 2016 (caliber). a matched case-control study design was used to investigate the causes of hospitalization and death comparing individuals with and without incident af.


Eligibility criteria:
inclusion criteria: * the investigators identify individuals aged 18 years or older and registered in the current primary care practice for at least one year. exclusion criteria: * individuals are excluded if they had a prior history of af before study entry.

Keywords: atrial fibrillation healthcare contacts electronic health records epidemiology comorbidity health inequality
a study of the safety and effectiveness of juvéderm voluma® xc injectable gel for cheek augmentation using cannula

Conditions: Age-related Volume Deficit in the Mid-face

Summary: the objective of this study is to evaluate the safety and effectiveness of juvéderm voluma® xc injectable gel using cannula in participants seeking correction of age-related volume deficit in the mid-face.


Eligibility criteria:
inclusion criteria: male or female aged 35 to 65 (inclusive) years of age with overall mid-face severity of moderate, significant, or severe for both cheeks on the mid-face volume deficit scale (mfvds); exclusion criteria: * has any facial procedures or trauma that may interfere with the study procedures and results; * has a history of anaphylaxis or allergy to lidocaine (or any amide-based anesthetics), hyaluronic acid (ha) products, or streptococcal protein, or is planning to undergo allergen desensitization therapy during the term of the study; * has active autoimmune disease; * has current cutaneous or mucosal inflammatory or infectious processes.
do you arthroscopic repair for subscapularis tendon tear, which accounts for more than half of the 1st facet? or do you perform debridement?

Conditions: Subscapularis Tendon Tear; Arthroscopic Repair; Arthroscopic Debridement

Summary: the purpose of this study was to randomly classify the upper third of the subscapularis in 1/2 of the rupture patients as preoperative group (arthroscopic and arthroscopic debridement group) and the difference between clinical and clinical scores.

the degree of rupture that is an adaptation of arthroscopic surgery is now known to be about one-third to one-half of a rupture. however, the most controversial case is the one-third to one-half of the upper tear attached to the tendinous portion of the subscapularis. currently, debridement or repair is under way. but evidence-based studies are lacking and no clear treatment guidelines are available.

Eligibility criteria:
inclusion criteria: * subscapularis tendon tear from more than 1/2 to entire of 1st facet found during routine arthroscopy with 70 degree scope * isolated or combined with supraspinatus and/or infraspinatus tear (ss/is tear less than 3 cm) * combined biceps lesion * combined acromial clavicle (ac) arthritis exclusion criteria: * revision case or previous surgical history of the index shoulder * any open surgery, including open repair of the subscapularis tendon * compensation case * combined severe arthritis of the glenohumeral joint * patient who selects one's own surgical method, i.e. not randomized * infection, tumor, etc
pelvis rct: impact of surgery on pain in lateral compression type pelvic fractures

Conditions: LC Pelvic Fracture

Summary: lateral compression type pelvic ring injuries remain the most common type of pelvic fractures encountered. there is a substantial amount of controversy surrounding the treatment of these injuries and there is evidence that both operative and non-operative treatment can be successful.

the crux of the problem is determining which of these patients would benefit from early surgical stabilization and which will heal uneventfully without surgery. many authors site patient pain and inability to mobilize as indications for surgery, although there is conflicting evidence supporting this claim. the presence of chronic pain in the trauma population is a growing area of interest, and there is a push towards controlling pain more effectively in the acute setting. it remains to be proven that surgical intervention is more effective at decreasing acute and longer term pain. there is evidence in the literature to support both operative and non-operative treatment of patients with lc1 or lc2 pelvic fractures. there is conflicting evidence that surgical stabilization decreases acute pain and narcotic requirements, although patients are often counseled to that effect. the investigators propose to prospectively randomize patients with lateral compression type pelvic fractures to non-operative versus operative treatment and track which group has less pain, less need for narcotic pain medications, and who mobilizes with physical therapy faster.

Eligibility criteria:
inclusion criteria: * the patient has one of the following pelvic fractures (includes bilateral sacral fractures): lateral compression type 1, lateral compression type 2, lateral compression type 3 * the patient is between 18 and 80 years of age, inclusive * the patient has reached skeletal maturity * the patient's pelvic fracture is a result of trauma (includes polytraumatized patients) * the patient/family/guardian is english-speaking * the patient's surgeon agrees to randomization (the patient is amendable to either operative or non-operative treatment) * patient enrollment and, if applicable, patient randomization can occur within 96 hours post injury exclusion criteria: * the patient has prior surgical hardware in place that precludes intervention * the patient's pelvic fracture is classified as a lateral compression type 1 and the associated sacral fracture is incomplete as indicated by failure to violate both the anterior and posterior cortex * the patient received prior surgical intervention for his/her current pelvic injury * the patient has sacral morphology that precludes percutaneous fixation * the patient is non-ambulatory due to an associated spinal cord injury * the patient was non-ambulatory pre-injury * the patient is currently pregnant * the patient is enrolled in another research study that does not allow co-enrollment * the patient is likely to have severe problems with maintaining follow-up

Keywords: operative vs. non-operative lc pelvic fracture complications
structural and functional brain reorganization in neuropathic pain: basal state of local cerebral blood flow and functional connectivity

Conditions: Neuropathic Pain

Summary: neuropathic pain is a medical condition involving allodynia (painful perceptions in response to stimuli that normally are not) and spontaneous pain (occurring at rest, without stimulation). this pain is secondary to nervous system injury affecting the sensory system. the lesion is either at the nerve endings of the spinal cord or brain. it induces a loss of sensitivity and likely reorganization of brain activity that are causing pain and which are the subject of this study. previous studies in functional neuroimaging has focused on brain areas activated during allodynic stimuli compared to non-painful stimuli. the abnormalities have been reported, but it was not possible to conclude formally. the authors failed to assess the part of the effect of the loss of sensory afferents (deafferentation) and the basal brain function. indeed, the operation without any sensory stimulation is not known yet is the initial level of activity which is the benchmark for studying brain function during stimulation. the objective of this study is to understand what are the cortical systems of allodynic dysfunctional in patients compared with controls at baseline.


Eligibility criteria:
inclusion criteria for patients : * major * with nervous pain : chronic or peripheric * treatment not stable opioid since one week * signed consent inclusion criteria for witnesses : * major * without chronic pain * signed consent exclusion criteria for 2 groups : * severe psychiatric history * presence of an active nervous lesion * subject with morphine treatment * contraindication to mri scan
clinical study to evaluate the efficacy and safety of two marketed investigational products in children with diaper rash

Conditions: Diaper Rash

Summary: to evaluate whether desitin; zinc oxide diaper rash ointment (desitin original) and desitin creamy; zinc oxide diaper rash ointment (desitin creamy) provide relief of the signs and symptoms associated with diaper rash after 12 and 24 hours of product application.

subjects received applications of the investigational products following a gentle cleansing of the diaper zone at every diaper change and following bathing of the child during a 24 hour period. efficacy was assessed during this study through the documentation of the severity of diaper rash. results of five anatomic areas and overall severity score by the evaluator's assessments, and parent/guardian's assessments all indicated that both products were significantly effective (p\<0.05 in relieving diaper dermatitis (rash) after 12 and 24 hours of treatment. safety was assessed through the reporting of adverse events during the course of the study. overall, the reporting of no adverse events under the conditions of the protocol indicate that the investigational products would appear to be safe for their intended use.

Eligibility criteria:
inclusion criteria: * healthy male and female children, 2-36 months of age * wear diapers 24 hours per day * present to the test facility for enrollment at baseline with diaper rash receiving an "overall severity score" greater than or equal to 1.5 as determined by the trained evaluator * parent/guardian signed informed consent * parent/guardian willing to use only the test product in the diaper area during the trial * parent/guardian willing to ensure that their child continues to wear their usual brand of diapers and will continue to clean their child during diaper changes using their usual products and method with the exception of ointments, lotions, creams or powders during the trial * parent/guardian is willing to refrain from changing any other products whose use may have an effect on their child's skin condition during the trial, i.e., laundry detergents, fabric softeners, and products used to bathe the child * a fitzpatrick skin type of i-iv exclusion criteria: * illness within 4 days preceding enrollment * currently being toilet trained * active dermatological conditions other than diaper rash that may affect trial results * history of recurrent dermatological conditions other than diaper rash that may affect trial results * concomitant use of medications that may affect trial results * known sensitivity to ingredients in trial medications * known sensitivity, rash or other abnormal skin reaction to topical or systemic medications or cleansing products within one year of trial initiation * other severe acute or chronic medical conditions that may increase the risk associated with trial participation or may interfere with the interpretation of results
root cause determination of catheter obstructions

Conditions: Type1diabetes

Summary: during this study, the investigators will perform a collection of biological and device samples (blood, catheters, insulin) in order to investigate the causes of catheter obstructions in patients with type 1 diabetes treated by implanted insulin pumps using intra-peritoneal delivery. this multi-centre study is interventional with minimal constraints. after an inclusion visit, blood samples and an insulin sample from pump reservoir will be collected. during the following year, if a peritoneal catheter is blocked or changed, the explanted catheter and new blood and insulin samples will be collected for examination of the catheter obstruction and search for patient- or insulin-related reasons for obstructions. in this study, 140 patients will be investigated.

in patients with type 1 diabetes treated by implanted pumps using intra-peritoneal delivery, the incidence of peritoneal catheter obstructions is close to 12 per 100 patient-years. variability of occurrence is however important between patients. fibrin, aggregates of insulin and fibrotic tissue have been found inside the catheter lumen at peritoneal tip or forming a capsule around the catheter. this study will investigate with more precision the nature of catheter blockages and look for potential causes of these obstructions such as stability of insulin in the pump reservoir, immune reactions against insulin or catheter components in patient plasma, prothrombotic factors in patient blood. blood samples and insulin from pump reservoir will be collected at baseline (inclusion). during the following one year period, each catheter presenting an obstruction or needing a change associated with pump change will be collected and explored. blood and insulin samples will be collected again for comparison with initial samples. investigations will be performed in collaboration with pr burgess' team at the school of pharmacy of the university of connecticut. from obtained results, models replicating the conditions of obstruction will be elaborated and tested in rodents at the university of connecticut. solutions will be proposed to reduce the occurrence of obstruction of peritoneal catheters as an outcome of the study.

Eligibility criteria:
inclusion criteria: * collection of catheters for intra-peritoneal insulin infusion from implanted pumps presenting obstructions or not exclusion criteria: -
o-glcnacylation role in the pathophysiology of systemic lupus erythematosus

Conditions: Systemic Lupus Erythematosus

Summary: this study aims at defining the role of o-glcnacylation is in the physiopathology of systemic lupus erythematosus (sle). o-glcnacylation is a metabolic pathway potentially implicated in sle with potential for the discovery of new therapeutic strategies.

systemic lupus erythematosus (sle) is a rare and potentially life-threatening auto-immune systemic disease. there is an urgent need for better comprehension of the physiopathology of the disease and to discover new therapeutic pathways. the hexosamine biosynthesis pathway, or hbp, is an important regulator of immunity and results in a post-transductional modification of proteins called o-glcnacylation and involved in inflammation and immunity. there is a very unbalanced sex ratio in favor of women in sle suggesting a role of the x chromosome in the physiopathology of the disease. the human ogt gene (a key o-glcnacylation enzyme) is localized on the x chromosome, near the xist gene responsible for the inactivation of one x chromosome by methylation. moreover, genes encoding cd40l, cxcr3 and ogt have been shown to be demethylated and overexpressed in t cells of women with systemic systemic lupus erythematosus compared to men with the same pathology. the investigators hypothesize that o-glcnacylation is increased in the effector lymphocytes of sle patients and involved in the pathophysiology of the disease. therefore, inhibiting o-glcnacylation may be a promising therapeutic option in sle. this study will recruit 100 patients with sle followed in bordeaux university hospital. among classical disease activity information, blood samples will be collected at study visit to study o-glcnacylation levels in immune cells. fundamental research will be realized on patients' sample. clinical and biological disease activity, treatment and outcomes will be studied in correlation with o-glcnacylation levels. patients will be included within their usual follow-up. no extra visit will be needed and blood samples will be drawn at the same times as those drawn for clinical purposes.

Eligibility criteria:
inclusion criteria: * adult patient aged over 18 years old * diagnosis of systemic lupus erythematosus * affiliated person or beneficiary of a social security scheme. * having signed an informed consent (at the latest on the day of inclusion and before any examination required by research). exclusion criteria: * pregnant or breastfeeding women, * patient concerned by articles l 1121-5 to l 1121-8 (persons deprived of their liberty by a judicial or administrative decision, minors, persons of legal age who are the object of a legal protection measure or unable to express their consent)

Keywords: systemic lupus erythematosus autoimmunity o-glcnacylation
effect of antioxidant intake on resistin levels in patients with gum disease and diabetes

Conditions: Diabetes Mellitus; Periodontitis

Summary: to evaluate the effectiveness of non surgical periodontal therapy in addition to antioxidant(ala) on resistin levels in patients with type 2 diabetes and periodontal disease

a total of 40 patients with diabetes and chronic periodontitis attending the department of periodontics will be recruited in the study. 40 subjects will be randomly divided into two groups(control group and test group with 20 subjects in each group). clinical parameters such as gingival index, periodontal index, random blood sugar levels(rbs) and glycosylated hemoglobin levels (hb1ac) will be recorded at baseline and after 3 months and 2ml of blood sample will be collected by venepuncture ( baseline and after 3 months) and stored in ethylenediaminetetraacetic acid containing vials to identify the levels of resistin in the patients by enzyme linked immunosorbent assay. group a will receive alpha lipoic acid at baseline for a period of 3 months. both the groups will receive scaling and rootplaning at baseline.

Eligibility criteria:
inclusion criteria: diabetic patients with chronic periodontitis. - exclusion criteria: smokers, pregnant \& lactating women, prior periodontal therapy within 3 months.
false positive findings in breast cancer tomosynthesis

Conditions: Breast Cancer Screening

Summary: to analyse false positives in breast cancer screening with tomosynthesis versus 2d mammography. the avellino breast tomosynthesis screening trial is a observational population-based study that analyze souspicious findings in tomosynthesis slice images. this study is based on two years screening and tomosynthesis was analzyed by two expert breast radiologists.


Eligibility criteria:
inclusion criteria: * breast cancer screening population exclusion criteria: * previous cancer * breast prostheses