Kornimate/medical-research-clean huggingface dataset:
longitudinal study of ultra-rare inherited metabolic and degenerative neurological diseases.

Conditions: Inherited Disease; Rare Diseases; Metabolic Disease; Undiagnosed Disease; Neurologic Disorder; Neuro-Degenerative Disease

Summary: general aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.

the study provides a collection of retrospective data from adult patients with ultra-rare inherited neurological diseases followed at "carlo besta" neurological institute from 1st january 2004 until march 2021. further, prospective data will be collected starting from march 2021 (date of protocol approval) and spanning the next ten years. normal clinical practice will be followed for collection of the prospective data. follow-up assessment will be performed at least once a year to evaluate the disease course. based on their clinical manifestations, patients will be assessed by using quantitative functional tests (clinimetric tests such as timed up and go test) and traditional ordinal scales (such as the scale for the assessment and rating of ataxia (sara). moreover, a varying of laboratory and instrumental tests (e.g., neuroimaging, neurophysiological investigations, etc.) will be used according to clinical practice in selected patients.

Eligibility criteria:
inclusion criteria: * age \>= 18 years * subjects with ultra-rare inherited degenerative and metabolic neurological diseases * subjects with undiagnosed neurological diseases (when supposed to be inherited) exclusion criteria: * none

Keywords: leukodystrophies, adrenoleukodystrophy, metachromatic leukodystrophy, krabbe disease, vanishing white matter syndrome, alexander disease, hereditary leukodystrophy with spheroids (csf1r-related hlds), nasu-hakola disease (trem2- and tyrobp-related disease) leukoencephalopathy, progressive, with ovarian failure (lkenp, aars2-related), pelizaeus-merzbacher disease, pelizaeus-merzbacher-like disease, hypomyelinating leukodystrophies, leukodystrophies with calcifications and cysts (lcc), leukoencephalopathy with ataxia disease (lkpat, clcn2-related), l-2-hydroxyglutaric aciduria, polyglucosan bodies disease, methylmalonic acidemia with homocystinuria, niemann-pick type c, fahr's disease, wilson's disease, cerebrotendinous xanthomatosis, sphingolipidoses
a prospective longitudinal assessment of pd functional impairment and disability via mobile health technology

Conditions: Parkinson Disease

Summary: the purpose of this study is to compare data from a battery of novel mobile health technologies to standard-of-care validated patient questionnaires and clinician rating scales in parkinson's disease patients.

mobile health technologies include the wearable sensor technologies that are body-worn and passively collect information and mobile devices like smartphones that can be frequently used by patients to actively or passively collect information. however, there has been limited comparison of different wearable technologies to validated clinical rating scales to allow us to come to a consensus about their utility in both clinical practice and research trials. data from mobile health technologies in parkinson's disease (pd) have not been validated to use in the place of clinician rating scales. it is also not clear if the information obtained with the devices consistently correlates with change on the clinician scales and longitudinal motor decline. technological challenges, such as the feasibility (safety, compliance) of use devices in patients with neurodegenerative disease, change in equipment and algorithms over time, collaboration with companies who may own patents, and other issues may also limit their use in healthcare and research. the purpose of this study is to compare data from a battery of novel mobile health technologies to standard-of-care validated patient questionnaires and clinician rating scales in pd patients. the hypothesis is that there will be an association between data from mobile health technologies and data obtained from validated questionnaires/scales, indicating that these technologies are a reliable means of monitoring motor symptomatology and functional impairment and disability over time. the primary aims of the study are to compare information on continuously-measured patient-reported pd-related functional impairment and disability changes from traditional validated questionnaires to continuously-measured health-related data from a battery of novel mobile health technologies, and to assess the feasibility (compliance, safety, satisfaction) of pd patients to use a battery of novel mobile health technologies.

Eligibility criteria:
inclusion criteria: * pd as defined by the uk brain bank criteria * disease duration between 2-13 years * aged 35-68 years * hoehn \& yahr stage 3 or less when in the levodopa-"on" state exclusion criteria: * atypical parkinsonism including 18f-dopa pet patterns consistent with this * mmse score of \< 24 or evidence for dementia using dsm-iv criteria * unable to do normal copying of interlocking pentagons and semantic fluency score \<20 over 90 secs * ongoing major medical or psychiatric disorder including depression and psychosis * other concomitant treatment with neuroleptics * significant drug induced dyskinesias (\>2 for any body part on the aims scale) * previous neurosurgery unable to be imaged using mri
observational study on anti-tat immune response in hiv-1-infected haart-treated adult subjects

Conditions: HIV Infection

Summary: the present study is designed as a prospective observational study directed at evaluating the frequency, magnitude, quality and persistence (primary endpoint) of the anti-tat immune response in highly active antiretroviral therapy (haart)-receiving hiv-1 infected individuals, and to prospectively evaluate the immunological, virological and clinical outcome of anti-tat positive versus anti-tat negative subjects under successful haart (secondary endpoint), in order to determine the impact of anti-tat immunity on hiv disease progression as well as the potential use of anti-tat immune response assessment for the clinical and therapeutic management of haart-treated infected patients. this survey provided important information for the design, planning and conduction of future therapeutic vaccine trials based on the hiv-1 tat protein in haart-treated patients.


Eligibility criteria:
inclusion criteria: * diagnosis of hiv-1 infection * to be under successful haart treatment with plasma viremia \<50 copies/ml in the last 6 months prior to initiation of the study, without a history of virologic rebound * known cd4+ t cells nadir * age ≥ 18 years old * signed informed consent exclusion criteria: * current therapy with immunomodulators or immunosuppressive drugs, or chemotherapy for neoplastic disorders * concomitant treatment for hbv or hcv infection

Keywords: hiv, haart
genetic analysis of phace syndrome (hemangioma with other congenital anomalies)

Conditions: PHACE Syndrome

Summary: 1. phace syndrome(omim database number 606519) is the association of a vascular birthmark (hemangioma) on the face along with one or more of the following conditions: congenital heart defects, congenital anomalies of the cerebral arteries,brain, eyes, or sternum. 2. a research study is currently being conducted at the medical college of wisconsin (mcw) to investigate if there is an inherited cause of phace syndrome. 3. we are hoping that this study will lead to a better understanding of how and why children develop phace syndrome.

if you and your child agree to participate in this study, the following will happen: 1. the principal investigator at mcw, or her appointed representative or collaborators at other sites, will review the study protocol and consent form with you and answer any questions- this can be done over the phone. 2. if you choose to participate, the investigator will obtain informed consent for study participation, consent to obtain medical records, and a small amount of logistical information such as address and phone number. 3. subjects and parents may have a blood draw, saliva sample or buccal swab done. 4. if the subject undergoes surgery for another reason and there is tissue which would otherwise be discarded, we may ask to receive this sample for research purposes. 5. we will request completion of surveys about the individual's medical history as it relates to this condition. 6. the purpose of this study is to promote the understanding of the inheritance of hemangiomas associated with brain, eye and heart anomalies. the dna obtained from participants are stored in a dna repository and genetic data bank for current and future research projects related to their genetic disorders. the dna specimens will be used to map disease-related genes. the principal investigator uses her discretion to decide which investigators will have access to this resource. the analysis of the specimens will vary depending on the investigator and his/her specific protocol.

Eligibility criteria:
inclusion criteria: * meets the clinical diagnostic criteria for phace syndrome. exclusion criteria: * fails to meet the clinical diagnostic criteria for phace syndrome.

Keywords: phace syndrome hemangioma coarctation of aorta dandy walker brain malformation eye anomaly sternal malformation genetic analysis cerebral artery anomaly
a trial evaluating a 7-valent pneumococcal conjugate vaccine given with diphtheria, tetanus, and acellular pertussis vaccine (dtap) in healthy japanese infants.

Conditions: Healthy Subjects

Summary: subjects will be randomly assigned to 1 of 2 groups to receive the following vaccines: group 1: 7-valent pneumococcal conjugate vaccine (7vpnc) and diphtheria, tetanus, and accelular pertussis vaccine (dtap), group 2: dtap alone. group 2 subjects will also receive catch-up doses of 7vpnc. the study vaccines will be open-label. the main purpose of the study is to demonstrate that the immune responses as measured by serum antibody responses to diphtheria toxin, tetanus toxin, pertussis toxin (pt) and filamentous haemagglutinin (fha) induced by dtap given concomitantly with 7vpnc are comparable to the immune responses induced by dtap given alone. in addition, the study aims to evaluate the side effects (safety profile) after vaccination of 7vpnc when given with dtap in healthy japanese infants.


Eligibility criteria:
inclusion criteria: * aged 3 to 6 months (defined as the first day the subject is 3 months of age to the last day the subject is 6 months of age) at time of enrollment. * available for entire study period and whose parent/legal guardian can be reached by telephone. * healthy infant as determined by medical history, physical examination, and judgment of the investigator. exclusion criteria: * previous vaccination with licensed or investigational pneumococcal, diphtheria, tetanus, or pertussis vaccines. * a previous anaphylactic reaction to any vaccine or vaccine-related component. * bleeding diathesis or condition associated with prolonged bleeding time that would contraindicate any type of injection. * history of culture-proven invasive disease caused by s pneumoniae (eg, meningitis, bacteremia, osteomyelitis, arthritis). * subjects who are direct descendants (child, grandchild) of investigational site staff members or subjects who are direct descendants (child, grandchild) of pfizer employees directly involved in the conduct of the trial.

Keywords: vaccine pneumococcal conjugate
study of the effects of hypnosis before undergoing surgery, on anxiety in children aged 10 to 18 years

Conditions: Osteotomy and Spinal Column Surgery

Summary: this study aims to find how hypnosis performed just before a painful surgery can change anxiety level, in children aged 10 to 18 years.

undergoing surgery can cause anxiety among children. thus, peri operative anxiety can increase levels of pain, need for painkillers, and even length of stay in hospital. caring for children must take in account their anxiety. this anxiety can be treated through drugs or others means such as hypnosis. thus, the use hypnosis in surgery has been very poorly assessed. parents will be given a consent form as well as an information note. this study aims to compare the level of post operative anxiety (d1)of children having hypnosis before receiving anaesthetics to the level of anxiety of children getting the usual care. all the children included in this study will have a pre operative consultation with the pain management nurse. the study applies to inpatients, aged 10 to 18 years, who must go through orthopaedics surgery such as osteotomy (bone section) and spinal column surgery. 120 patients will be included in this study (60 in each arm) the primary outcome measure is the level of anxiety at day 1 (24 hours after surgery) other outcome measure are * the difference in anxiety level between d-1 (the day before surgery) and d1 (24 hours after surgery) * the use of morphine during the first 24 hours this study is a prospective randomized trial, comparing a usual analgesics procedure to an experimental analgesics procedure including hypnosis before anaesthesia. expected impact of this study :change in procedures, decrease of anxiety levels in patients by the use of hypnosis before anaesthesia.

Eligibility criteria:
inclusion criteria: * age 10-18 years * orthopaedics surgery (spinal column, osteotomy) * asa 1 \& 2 exclusion criteria: * casualty surgery * patient or family unable to understand the study (language, disability ...) * patient or family refusing the study

Keywords: hypnosis hypnoanalgesia surgery children anxiety morphine pain a-vas orthopaedics osteotomy tenotomy arthrodesis spinal column surgery
early treatment for acute acl tear

Conditions: Anterior Cruciate Ligament (ACL) Tears

Summary: this research study is the first of its kind and will allow health care professionals and researchers to answer many questions about the reasons why anterior cruciate ligament (acl) injury leads to knee pain and disability and osteoarthritis. we also hope that this study will be the beginning of new, more powerful and safer drugs to help patients with acl injuries heal sooner and return to sports or daily activities pain free. study participants will be recruited from the university of kentucky and vanderbilt university. the purpose of this research is to gather information on how safe and effective kenalog® is in alleviating knee pain following acl rupture.

injury to the knee during sports participation often involves partial of full detachment of the acl. acl tears cause pain, swelling and inflammation. while the swelling and inflammation usually goes away in time, individuals with acl injuries may experience pain and notice knee instability (knee slipping, etc.). often surgery can repair or replace the acl within the joint, allowing individuals the ability to walk or run again pain free or participate in sports. unfortunately, osteoarthritis of the knee, which also causes pain and swelling, can occur in that same knee 10-20 years later for reasons which are not well understood. in this research study, we hope to prevent and reduce the initial post-operative pain. the reduction of pain will allow for earlier movement of the knee joint and preparation for surgery. it may also reduce the risk to develop osteoarthritis in individuals with acl injuries by treating them within 1-2 days after their injury.

Eligibility criteria:
inclusion criteria: * currently participating in sporting activities * normal contralateral knee status * anterior cruciate ligament (acl) injury occurred while playing a sporting activity exclusion criteria: * underlying inflammatory disease (i.e. rheumatoid arthritis, psoriatic arthritis, etc.) * have been diagnosed with hepatitis b or tuberculosis * currently have an infection, including infection of the skin * have a disease that weakens your immune system such as diabetes, cancer, hiv or aids * other major medical condition requiring treatment with immunosuppressant or modulating drugs. * a history of chronic use of non-steroidal anti-inflammatory drugs * previous exposure or allergic reaction to kenalog * prior knee surgery (ipsilateral or contralateral) * have received any investigational drug with 4 weeks of study visit 1
use of mirnas in growth hormone deficiency (ghd)

Conditions: Growth Hormone Deficiency

Summary: this study aims at improving knowledge about the diagnosis of growth hormone deficiency (ghd) and treatment with growth hormone (gh), with the goal of providing information on the presence of new biomarkers, such as mirnas, for diagnostic and therapeutic purposes, with the goal of establishing a personalized gh treatment scheme, optimizing resources, reducing costs, and improving outcomes.

in 200 prepubertal and pubertal subjects with the suspicion of ghd, the levels of three specific circulating mirnas will be measured to establish whether they can be used for the diagnosis of gh deficiency. in subjects with isolated idiopathic ghd (iighd), short statured patients born sga, noonan and turner syndromes, and shox deficiency, we will also assess the changes of the identified mirnas before and after 3 months on gh therapy to verify an early growth prediction model for growth response at 12 months on treatment. finally, we plan to identify any differences in these mirnas at 3 months on treatment using daily gh versus weekly (long-acting) gh.

Eligibility criteria:
inclusion criteria for aim 1: * children with short stature and suspicion of ghd * subjects with organic gh deficiency exclusion criteria for aim 1: -subjects with underlying genetic conditions and chronic diseases inclusion criteria for aim 2-3-5: * patients having confirmed ghd enrolled for aim 1 * patients with growth failure and born sga (\>4 yr of age) * patients with noonan and turner syndrome and growth failure * patients with short stature homeobox-containing gene deficiency (shoxd) and growth failure inclusion criteria for aim 4: - isolated idiopathic prepubertal naive ghd subjects on long-acting versus daily gh therapy

Keywords: growth hormone mirna growth hormone deficiency growth hormone treatment small for gestational age turner syndrome noonan syndrome shox deficiency
unicondylar- or total knee replacement? patient satisfaction, function and muscle mass

Conditions: Knee Osteoarthritis

Summary: patients with medial gonarthritis are randomised to a unicompartmental or a total knee replacement. primary outcome: thigh muscle cross sectional area and radiological attenuation measured by ct secondary aims: functional tests, gait analysis, health related quality of life and patient related outcome.

objective: the investigators aim with the present study was to compare patient related outcome measurements, knee function and muscle mass in patients operated with an ukr or a tkr for medial gonarthritis. hypothesis: the investigators hypothesize that a greater number of patients might benefit from a less invasive surgery in terms of increased quality of life, function and muscle mass. primary outcome: thigh muscle cross sectional area and radiological attenuation measured by ct. secondary outcomes: functional tests (timed up and go, 30s sit and stand, forward reach, forward step down, 6 min walk and 40 m walk test), knee strength (biodex isokinetic dynamometer) and patient reported pain on a visual analogue scale (vas). a number of proms: health related quality of life (eq-5d), knee injury and osteoarthritis outcome score (koos), oxford knee score (oks) and forgotten joint score (fjs) as well as 3d movement and gait analysis. inclusion criteria: unilateral medial osteoarthritis of the knee (kellgren 3b-4), aged 50 or above. exclusion criteria: insufficient anterior cruciate ligament (acl). fixed varus deformity \>10°, fixed flexion deformity \>10°, flexion \ 35. rheumatoid disease. symptomatic osteoarthritis of the contra lateral knee or any hip. insufficient written or spoken swedish.

Eligibility criteria:
inclusion criteria: * medial gonarthritis, (kellgren 3b-4) * correctible varus deformity less than 10 degrees * intact acl * proficient in written and spoken swedish exclusion criteria: * valgus gonarthritis * flexion deformity of 10 degrees * knee flexion of less than 100 degrees * previous high tibial osteotomy * neuromuscular disorders of lower extremities * symptomatic osteoarthritis of the contralateral knee or any hip.

Keywords: medial gonarthritis, knee osteoarthritis, muscle function, muscle mass, muscle atrophy total knee arthroplasty (tka) unicondylar knee arthroplasty (uka) total knee replacement (tkr) unicondylar knee replacement (ukr) health-related quality of life (hrqol) patient related outcome measurements (proms)
comparison of computer-assisted navigation and conventional instrumentation for bilateral total knee arthroplasty

Conditions: Arthropathy of Knee Joint

Summary: to compare the functional outcomes of computer-assisted navigation (cas) and conventional instrumentation tka at the 8-year follow-up.

the data of the present study was collected from the review of the medical chart of the patients who were scheduled to undergo staged bilateral tka and randomly assigned to receive computer-assisted navigation (cas) tka in one limb and conventional tka. then, comparing the functional outcomes of cas and conventional instrumentation was performed by statistical software.

Eligibility criteria:
inclusion criteria: * the patients who were scheduled to undergo staged bilateral tka and randomly assigned to receive cas tka in one limb and conventional tka in the other at the 8-year follow-up. exclusion criteria: -