Kornimate/medical-research-clean huggingface dataset:
genetic and functional analysis of cherubism

Conditions: Cherubism

Summary: the goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. the long-term goal of researchers involved in this study is to find mechanisms to slow down bone resorption in cherubism patients.

cherubism is a very rare bone disorder where bone gets excessively resorbed only in the jaw bones (mandible and maxilla). the resulting cavities in bone fill up with soft fibrous (fibro-osseous) tissues that can expand and push the bony shells apart. thus the characteristic facial appearance in patients with progressed cherubism. bone resorption (cherubism lesions) in this disorder occurs always symmetrically in the mandible, the maxilla or in both. this distinguishes cherubism from similar disorders. as cherubism progresses, the lesions can invade the eye sockets (inferior and/or lateral orbital walls) and displace the eye balls and push down the eyelids. as a result the sclera (white of the eye) below the iris becomes visible and patients have an upward gazing appearance (cherubic look) which gave the name to this fibro-proliferative bone disorder. cherubism typically appears between ages of 2-7 years. it is often diagnosed during dental evaluations. at early stages cherubism is accompanied by lymph node swelling. proliferation of the fibro-osseous tissue typically stops after puberty and in many the soft tissue in the cherubic bone cavities are replaced by new bone. for this study we will: * send out study participation kits and consent by phone * collect a saliva sample from eligible individuals * obtain information regarding cherubism * document disorder with photos and doctor's letters * if patients undergo surgery for cherubism we ask to obtain some bone tissue that would otherwise be discarded * isolate dna from the saliva sample * perform genetic analyses of the dna with the most up-to-date methods available to identify genetic variations * study in the laboratory why the genetic variations cause the disorder

Eligibility criteria:
inclusion criteria: * cherubism; unaffected individuals only if part of a participating cherubism family exclusion criteria: * no cherubism unaffected individuals only as part of a participating cherubism family

Keywords: cherubism bone autoinflammatory disorder osteoblast osteoclast mandible maxilla
education program for family caregivers

Conditions: Stress

Summary: the purpose of this evaluation was to determine the effectiveness of an educational program designed to assist family caregivers to learn the knowledge and skills to take better care of their frail elder relatives and themselves.

spouses, children, and other family members typically care for frail elderly persons. these family caregivers attempt to provide care for their relative in the home, despite the potential for excessive stress to themselves. this care may extend over many years, involving unrelenting management of their relative, which puts the caregiver at risk for the development of physical and mental health consequences. the stress of caring for a frail elder may result in the institutionalization of the care receiver due to declining health or abilities in the caregiver as caregivers frequently continue to provide care at the expense of their own health. the goal of the education program is to fill an important need, that is, assist caregivers to become empowered, hardier, and have the ability to cope with the stress associated with caregiving. the aim is to investigate whether this educational intervention improves selected outcomes for family caregivers of frail elders. the selected outcomes are knowledge of caregiving, hardiness, quality of life, physical health, depressive symptoms, burden, and coping.

Eligibility criteria:
inclusion criteria: * 18 years of age and older * family member participating in care of a frail elder (60 years and older) exclusion criteria: * unable to speak or read english (materials are written in english)

Keywords: family caregivers caregiver education caregiver burden caregiver hardiness caregiver depressive symptoms
safety and tolerability of wve-210201 in patients with duchenne muscular dystrophy

Conditions: Duchenne Muscular Dystrophy

Summary: this is a phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of wve-210201 in ambulatory and non-ambulatory male pediatric patients with dmd amenable to exon 51 skipping intervention.


Eligibility criteria:
inclusion criteria: * diagnosis of duchenne muscular dystrophy (dmd) based on clinical phenotype with increased serum creatine kinase * documented mutation in the dystrophin gene associated with dmd that is amenable to exon 51 skipping * ambulatory or non-ambulatory male patients aged ≥5 - ≤18 years * stable pulmonary and cardiac function as measured by: 1. reproducible percent predicted forced vital capacity (fvc) ≥50% 2. left ventricular ejection fraction (lvef) \>55% in patients \ 45% in patients ≥10 years of age, as measured (and documented) by echocardiogram within one year prior to enrollment into the study. exclusion criteria: * severe cardiomyopathy; cardiomyopathy that is managed by angiotensin-converting enzyme (ace) inhibitors or beta blockers is acceptable provided the patient meets the lvef inclusion criteria. * need for mechanical or non-invasive ventilation or anticipated need for mechanical or non-invasive ventilation within the next year, in the opinion of the investigator. * changes in nutritional or herbal supplements or concomitant medications within 1 month prior to screening visit or plans to modify dose or regimen during the study. * currently on anticoagulants or antithrombotics. * received treatment with eteplirsen or ataluren within the past 14 weeks. * received prior treatment with drisapersen. * received any investigational drug within the past 3 months or 5 half-lives, whichever is longer.
a study to evaluate efficacy and safety of darunavir/cobicistat/emtricitabine/tenofovir alafenamide (d/c/f/taf) fixed dose combination (fdc) versus a regimen consisting of darunavir/cobicistat fdc with emtricitabine/tenofovir disoproxil fumarate fdc in treatment-naive hiv type 1 infected subjects

Conditions: Immunodeficiency Virus Type 1, Human

Summary: the purpose of this study is to demonstrate non-inferiority in efficacy of a darunavir/cobicistat/emtricitabine/tenofovir alafenamide (d/c/f/taf) fixed dose combination (fdc) tablet versus darunavir/cobicistat (drv/cobi) fdc coadministered with emtricitabine/tenofovir disoproxil fumarate (ftc/tdf) fdc in human immunodeficiency virus-1 (hiv-1) infected, antiretroviral (arv) treatment naive adult participants.

this is a phase 3, multicenter (when more than one hospital or medical school team work on a medical research study), randomized (study drug assigned by chance), double-blind (a medical research study in which neither the researchers nor the participant know what treatment the participant is receiving), active-controlled (study in which the experimental treatment or procedure is compared to a standard \[control\] treatment or procedure) study. the study consists of 5 periods: a screening period, double-blind treatment period, single-arm treatment period, extension period and a follow-up period. participants will receive either darunavir (drv)/ cobicistat (cobi)/emtricitabine (ftc) /tenofovir alafenamide (taf) fixed dose combination (d/c/f/taf fdc) or drv/cobi fdc along with ftc/tdf fdc. primarily percentage of participants with human immunodeficiency virus (hiv) -1 ribonucleic acid (rna) less than (\<) 50 copies per milliliter (copies/ml) defined by snapshot analysis will be evaluated. participants' safety will be monitored throughout the study.

Eligibility criteria:
inclusion criteria: * subject must be antiretroviral (arv) treatment-naive (never treated with an arv including post-exposure prophylaxis and pre-exposure prophylaxis); no prior use of any approved or experimental anti- human immunodeficiency virus (anti-hiv) drug for any length of time * screening plasma hiv-1 ribonucleic acid (rna) level greater than or equal to \>=1,000 copies per milliliter (copies/ml) * cluster of differentiation 4+ (cd4+) cell count \>50 cells/microliter (cells/mcl) * screening hiv-1 genotype report must show full sensitivity to drv, tdf and ftc * screening egfrcreatinine \>=70 ml/min according to the cockcroft-gault formula for creatinine clearance exclusion criteria: * subject has been diagnosed with a new acquired immunodeficiency syndrome (aids)-defining condition within the 30 days prior to screening * subject has proven or suspected acute hepatitis within 30 days prior to screening * subject is hepatitis c or hepatitis b positive * subject has a history of cirrhosis

Keywords: immunodeficiency virus type 1, human darunavir cobicistat tenofovir alafenamide emtricitabine tenofovir disoproxil fumarate
efficacy of intravenous tissue-type plasminogen activator on acute ischemic stroke patients with large vessel occlusions

Conditions: Stroke, Ischemic; Stroke, Acute

Summary: this is an observational prospective study about the reperfusion rate of intravenous thrombolysis on ischemic stroke patients with large vessel occlusions and predictor factors of successful recanalization.

stroke is one the most common cause of mortality and disabilities in the world, with the highest incidence in east asia. current american stroke association (asa) and european stroke organisation (eso) guidelines recommend bridging therapy with ivt for all eligible patients before indicating endovascular thrombectomy (evt) for those with large vessel occlusions (lvo). nevertheless, the decision to use ivt on stroke patients with lvo is still debatable, with many arguments against and supporting combined therapy or direct mechanical thrombectomy. at present, guideline in our hospital advocates the use of ivt in all patients who meet eligibility criteria and present within the 4,5 hour window for anterior circulation stroke and within 24 hour window for posterior circulation stroke. due to the overcrowded nature of our center as a high-end specialization establishment in vietnam, it is noted that our door-to-groin time is sub-optimal. this fact inadvertently prolongs the time of action of intravenous tissue-type plasminogen activator before the re-assessment of occlusion site on interventional radiography. therefore, it is possible for us to better estimate the reperfusion effectiveness of ivt as well as analyse other factors that might have an influence on this rate. the goal of our study is to determine the recanalization rate of ivt and related predictor factors in ais patients.

Eligibility criteria:
inclusion criteria: 1. age 18 and older with consent form signed. 2. patients hospitalized in 115 people's hospital for acute ischemic stroke. 3. patients receiving full dose of ivt, with a confirmed lvo (including mca m1, mca m2, ica, ba and va) on angiography and repeat vascular imaging within 24 hours of hospitalization. exclusion criteria: 1. patients with evidence of chronic occlusion of large vessels. 2. patients without source angiography data to assess the characteristics of thrombus

Keywords: reperfusion ivt
anti-hiv drugs for ugandan patients with hiv and tuberculosis

Conditions: HIV Infections; Tuberculosis

Summary: this study is designed to determine whether 6 months of anti-hiv drugs given along with tuberculosis treatment will delay the onset of aids in hiv infected african patients.

tuberculosis (tb) is a common and serious complication of hiv infection in the developing world, especially in sub-saharan africa. since the emergence of the hiv epidemic in africa, the incidence rates of tb have risen dramatically, overwhelming national tb control programs across the continent. over 50% of tb patients presenting to tb clinics in africa are hiv infected. these patients often present in the early stages of hiv infection. recent world health organization guidelines on the management of hiv-associated pulmonary tb recommend antiretroviral (arv) therapy in patients with cd4 cells less than 200 cells/mm3, but not for hiv infected tb patients who present with a high cd4 count. in uganda, over half of hiv infected patients with active tb present to tb clinics with cd4 counts above 200 cells/mm3, and there is evidence that coinfected patients with a high cd4 count should be treated with arv therapy. first, mortality in hiv-associated tb is high, even when patients respond to effective anti-tuberculosis therapy. second, excess mortality associated with tb is most evident when cd4 counts are above 200 cell/mm3. third, in coinfected patients, tb results in prolonged immune activation, which may enhance viral replication and accelerate the decline of cd4 cells. this study will evaluate whether short-term arv therapy of abacavir sulfate, lamivudine, and zidovudine given during treatment of active tb will slow progression of hiv disease in tb patients with cd4 counts of at least 350 cells/mm3. the study will also assess the possible risks (e.g., drug toxicities and resistance) and benefits (e.g., more rapid clearance of mycobacterium tuberculosis and reduced tb relapse) of punctuated arv therapy. participants in this study will be hiv infected tb patients with cd4 counts of at least 350 cells/mm3. all participants will receive treatment for tb. participants will be randomly assigned to receive 6 months of arv therapy or to delay arv therapy until cd4 counts drop below 250 cells/mm3. the participants will be followed for 2 years; cd4 counts will be compared between groups. this study will also follow a group of hiv infected patients without active tb to quantify the extent to which cd4 cell decline is accelerated with active tb and to determine the extent to which a decline is neutralized in patients who receive punctuated arv therapy.

Eligibility criteria:
inclusion criteria: * diagnosis of pulmonary tb (afb smear-positive or culture-positive) * hiv infected * cd4 count greater than 350 cells/mm3 * residence within 20 km of kampala, uganda * willing to use acceptable forms of contraception during the study and for 6 weeks after stopping study medication * parent or guardian willing to provide informed consent, if applicable exclusion criteria: * pregnancy

Keywords: antiretroviral therapy africa
the clinical effect of mk0476 with concomitant administration of and removal of inhaled beclomethasone in asthmatic patients (0476-029)

Conditions: Asthma

Summary: this study will investigate the additive effect of montelukast (mk0476) taken along with inhaled beclomethasone versus inhaled beclomethasone alone.


Eligibility criteria:
inclusion criteria: * female patients tested negative for pregnancy and agreed to use appropriate contraceptives through out the study * patient was a nonsmoker * patient was in good general health (except for asthma) exclusion criteria: * patient was hospitalized * patient was female who was less than 8 weeks postpartum or breast feeding * patient planned to move or vacation away during the study * patient had major surgery within 4 weeks the past 4 weeks * patient has donated blood or participated in a clinical trial within the past 4 weeks * patient was a regular user or recent abuser of alcohol or illicit drugs * patient was 40% over or under normal weight for height

Keywords: chronic asthma
comparison of optic nerve sheath diameter measured by ultrasonography before and after ventriculoperitoneal shunt surgery in adult patients with hydrocephalus

Conditions: Hydrocephalus

Summary: hydrocephalus is a disturbance of cerebrospinal fluid production, flow and absorption leading to intracranial hypertension. assessment of the change in intracranial pressure after ventriculoperitoneal shunt surgery is important in guiding appropriate postoperative management. the optic nerve sheath diameter measured using ultrasonography has been verified as a non-invasive indicator of intracranial hypertension in various clinical studies. the investigators hypothesized that a change in optic nerve sheath diameter detected through ultrasonography could help ascertain a reduction in intracranial pressure following ventriculoperitoneal shunt surgery in adult patients without the risk of serious complications.


Eligibility criteria:
inclusion criteria: * adult patients (20-90 years of age, asa physical status 3 or less) who are scheduled for elective ventriculoperitoneal shunt surgery with non-communicating hydrocephalus and communicating hydrocephalus except for normal-pressure hydrocephalus * non-communicating hydrocephalus is defined as a pattern of ventricular system or at the level of the fourth ventricle's outlets by lesions including tumor, giant aneurysm, or aqueductal stenosis. * communicating hydrocephalus is defined as paraventricular enlargement resulting from postoperative complication after cranial surgery, meningitis, subarachnoid or intracerebral hemorrhage. exclusion criteria: * patients with previous history of shunt operation, ocular disease and ocular surgery * patients with anatomical or functional abnormality of optic nerve * emergency patient

Keywords: ventriculoperitoneal shunt optic nerve sheath diameter intracranial pressure
68ga-nodaga-rgd pet/ ct for tumoral neoangiogenesis

Conditions: Pathological Angiogenesis

Summary: this study will assess the potential of the 68ga-nodaga-rgd for the evaluation of neoangiogenesis in patients followed for a neoplastic pathology and for whom a18f-fdg (or 18f-fet for gliomas) is indicated for initial extension evaluation or suspicion of recurrent tumor.

the purpose of this study is to assess the value of 68ga-nodaga-rgd pet/ct for detection of neoangiogenesis at level of neoplastic processes, in patients, compared to 18f-fdg pet/ct (tumors other than glioma) or 18f-fet pet/ct (patients affected by glioma) and to determine the respective diagnostic contribution of every technique. every patient will undergo a routine 18f-fdg (or 18f-fet) pet/ct followed by a 68ga-nodaga-rgd pet / ct specific for the study within the next 7 days. (each image procedure duration: 2h) the criteria of primary evaluation for each of the techniques will be defined: * on the images of pet/ct: suvmax, suvmoyen, voi ( ml ), suv41 % ratio \[mean suv of pixels ≥ 41 % of the suvmax\] of lesions / suv * on the images of ct: size of the lesions measured in 3d (axial, coronal and sagittal), density in hounsfield unit (hu) the 18f-fdg/18f-fet and 68ga-nodaga-rgd pet / cts will be analyzed at first separately then will be compared according to the methods described in the analysis

Eligibility criteria:
inclusion criteria: * age ≤ 85 years old * karnofsky index: ≥ 80% * patients presenting a neoplasic pathology, histologically proven, known to have expressed integrin αvβ3and for which a 18f-fdg (or a 18f-fetfor glioma) is indicated : (1) glioma (who i, ii-iv), (2) malignant melanoma, (3) cancer of upper respiratory tract, (4) breast cancer,(5) bone metastasis, (6) ovarian cancer, (7) lung cancer,(8) non-hodgkinian malignant lymphoma with extra- lymphatic nodes extension, (9) neuroendocrine tumors, (10) pancreatic cancer,(11) oesophagus cancer,(12) stomach cancer. 10 patients will be included per type of cancer. * informed consent signed exclusion criteria: * incapacity to sign the informed consent * pregnancy, breastfeeding * age \<18 years

Keywords: 68ga-nodaga-rgd 18f-fdg 18f-fet pet/ct neoangiogenesis
evaluation of the efficacy of restylane silk in the correction of tear trough deformity

Conditions: Tear Trough Deformity

Summary: prospective single center study to evaluate the safety and effectiveness of restylane silk for treatment of tear trough correction.


Eligibility criteria:
inclusion criteria: 1. is a healthy male or female between 21 and 65 years old 2. tear trough deformity, hirmand type-1 and type-2 3. is voluntarily willing to consent to participate in the study 4. is willing to comply with all requirements of the study including being photographed, follow post treatment care instructions, to attend all treatment, and follow up visits 5. willingness to waive rights to use of still photos of themselves for research, marketing, or promotional reasons, including on the internet and on social media outlets. 6. willingness to refrain from other surgical, laser, or injectable treatments in the periorbital region during the entire duration of the study. 7. ability to provide informed consent. exclusion criteria: 1. marked delineation of the inferior orbital rim in the lateral aspect of the eyelid/orbit 2. use of botulinum toxin in the periorbital region within the past 6 months. 3. treatment with injectable fillers in the midface or periorbital region within the past 2 years or treatment at any time in the past with a permanent filler in the midface or periorbital region such as silicone, or pmma (artefill) 4. laser skin resurfacing of the periorbital region within the past one year. 5. history of lower eyelid blepharoplasty or periorbital surgery in tear trough region. 6. the subject has a coagulation disorder or is currently using anti-coagulation medication 7. history of facial nerve palsy. 8. inability to discontinue the use of nonsteroidal anti-inflammatory drugs or anticoagulants prior to treatment. 9. current participation in another active clinical trial protocol 10. presence of malar festoons 11. active cutaneous infections 12. allergy or sensitivity to benzocaine, lidocaine, prilocaine, or tetracaine. 13. pregnant or nursing females 14. other factors as deemed by the principal investigator that would make a subject unqualified for participation. 15. the subject has a history of keloids or compromised wound healing 16. the subject has a known adverse reaction to previous injection with hyaluronic acid or other subcutaneously injected device