Kornimate/medical-research-clean huggingface dataset:
avtx-801 d-galactose supplementation in slc35a2-cdg

Conditions: SLC35A2-CDG - Solute Carrier Family 35 Member A2 Congenital Disorder of Glycosylation

Summary: this is a multicenter, randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy and safety of avtx-801 in subjects with slc35a2-cdg


Eligibility criteria:
inclusion criteria * molecular confirmation of slc35a2 genetic variant * age \> 1 month * presence of seizures, chronic vomiting, chronic constipation, or chronic diarrhea * a parent or legal guardian must be available and willing to provide consent on behalf of minor subjects or adult subjects who are unable to give informed consent due to developmental disabilities. * use of contraception in females \> age 8 years * previously performed eye exam within last year exclusion criteria * aldolase-b deficiency * galactosemia * hemolytic uremic syndrome * hemoglobin \< 7 mg/dl * lfts \> 3x uln * previously experienced severe aes from oral galactose (severe diarrhea, vomiting, constipation, galactosuria, or increased liver glycogen storage) * other history of galactose intolerance as determined by the investigator * currently treated with ketogenic diet * current enrollment in another trial involving investigational compounds * ongoing dietary d-galactose supplementation * use of investigational compounds * pregnancy
retention and duration of activity of spl7013 (vivagel®) after vaginal dosing.

Conditions: HIV Infections; HSV-2 Genital Herpes

Summary: to assess the retention and anti-viral activity (human immunodeficiency virus (hiv) and herpes simplex virus 2 (genital herpes, hsv-2) of spl7013 in cervicovaginal samples taken up to 24 hours after administration of 3% spl7013 in the vagina. there is no hypothesis for this study.


Eligibility criteria:
inclusion criteria: * healthy women aged 18-45 with regular menstrual cycles, free from sexually transmitted infections and using adequate contraception exclusion criteria: * any condition, including genital conditions, sexually transmitted infection, menopause, and/or allergies that would make the study participant unsuitable for the study. * pregnancy or breast-feeding

Keywords: prevention
training in exercise activities and motion for growth

Conditions: Single Ventricle Physiology

Summary: to determine if an exercise program of passive range of motion (rom) is safe and feasible in infants with single ventricle (sv) physiology after their norwood procedure.

this is a non-randomized pilot study to evaluate the safety and feasibility of an exercise program in hospitalized infants with single ventricle physiology. following the norwood procedure, the intervention will be administered for up to 21 days or until discharge, whichever comes first. data will be collected daily during hospitalization and at a follow-up visit at 3 months of age. sources of data will include medical record review. twenty subjects will be enrolled at three pediatric heart network study sites (utah primary children's hospital, children's hospital of philadelphia and texas children's hospital). subjects will be recruited following institutional review board (irb) approval at each institution and parental/legal guardian consent.

Eligibility criteria:
inclusion criteria: * hospitalized infants with sv physiology * \>37 weeks gestation * \<30 days of age * hemodynamically stable (as defined by the attending physician) after surgical or interventional palliation with closed sternum * parent or guardian willing to comply with protocol and provide written informed consent exclusion criteria: * intrauterine growth restriction * chromosomal or recognizable phenotypic syndrome of non-cardiac congenital abnormalities associated with growth failure (for example trisomy, noonan or turner syndromes) * unstable hemodynamics as defined by the attending physician * non-cardiac diagnosis associated with growth failure * severe neurologic injury resulting from stroke or intracranial hemorrhage confirmed by head ct/ mri or cranial ultrasound * anticipated discharge within 14 days of screening

Keywords: passive range of motion single ventricle infants congenital heart disease
usefulness of continuous glucose monitoring in mody diagnosis

Conditions: Type 1 Diabetes; MODY

Summary: observational study about usefulness of intermittently scanned continuous glucose monitoring (iscgm) in the diagnosis of maturity-onset of the young (mody) patients.

cross-sectional retrospective analysis of all patients with type 1 diabetes (t1d) in castilla-la mancha (south-central spanish region) using intermittently scanned continuous glucose monitoring (iscgm). this study aimed to asses the usefulness of iscgm in the diagnosis of mody patients that were previously wrongly diagnosed as t1d patients. the following glycometrics were taking into account as mody predictors: time in range (70-180 mg/dl \>70%, glucose management index \<7% y coefficient of variation \<36%. patient´s clinical records of subjects meeting these glycometric criteria were reviewed for clinical suspicious of mody (diagnosis before 35 years of age, first-degree family history of diabetes, negative pancreatic autoimmunity, preserved pancreatic beta cell function. those patients meeting iscgm and clinical suspicious criteria were offered a diagnostic test for mody. the relationship between the qualitative outcome variable (mody presence) and the quantitative variables will be performed using student's t-test and anova in situations of good fit with normality, and the mann whitney u and kruskal wallis when there is not a good fit with normality, and the mann whitney u and kruskal wallis when there is not.a p value \< 0.05 was considered statistically significant. the protocol was approved by the reference castilla-la mancha public health institute ethic committee.

Eligibility criteria:
inclusion criteria: * presence of t1d. * age equal or higher than 18 years old. * in treatment with iscgm system. * active data in libreview. * iscgm use \>70% of the possible time of use (iscgm data quality criteria). * time in range \>70%, glucose management index \<7% and coefficiente of variation \<36% in the last 14 days glucometric recording. exclusion criteria: * not receiving treatment with iscgm. * diagnosis of t1d in the last three years. * gestation in progress or programmed pregnancy.
a single oral dose study of pf-06427878 in healthy adult subjects

Conditions: Healthy

Summary: pf-06427878 is a new compound proposed for the treatment of hyperlipidemia. the primary purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics of single oral doses of pf-06427878 in healthy adult subjects.


Eligibility criteria:
inclusion criteria: * healthy male and/or female subjects of non childbearing potential. * body mass index (bmi) of 17.5 to 35.4 kg/m2; and a total body weight \>50 kg * subjects with fasting tg level of \>=90 mg/dl and \<=500 mg/dl following an overnight fast exclusion criteria: * evidence or history of clinically significant hematological, renal, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, psychiatric, neurologic, or allergic disease (including drug allergies, but excluding untreated, asymptomatic, seasonal allergies at time of dosing).

Keywords: single ascending dose healthy subjects hyperlipidemia lipid metabolism disorders metabolic diseases
bronchodilator effects and safety of glycopyrronium bromide (25 ug and 50 ug o.d.) in asthma

Conditions: Asthma

Summary: the purpose of this trial is to characterize the bronchodilator effects and safety of 25 ug and 50 ug o.d. nva237 (glycopyrronium bromide) doses compared to placebo in asthma patients

this study uses a randomized, double-blind, placebo controlled, 3-period cross-over clinical trial design. during a screening epoch patient eligibility will be assessed. the screening epoch will be followed by a 21-day run-in epoch during which patients will continue their inhaled corticosteroids use but be withdrawn from laba-treatment and switched to short-acting bronchodilator-rescue medication. after the run-in period patients will be randomized to one of the 6 treatment sequences and enter the first 7-day study treatment period. treatment period one is followed by a 10 to 14 days washout period after which patients begin the second 7-day treatment period which is then followed by a second 10 to 14 days washout period followed by the third 7-day treatment period. at the end of each treatment period spirometry will be performed to assess the primary endpoint in terms of trough fev1. the study population will consist of approximately 144 patients with asthma who have been treated in a stable regimen of ics/laba for at least 4 weeks prior to screening.

Eligibility criteria:
inclusion criteria: * male and female adult patients aged \>= 18 or =\< 65 years * patients with a diagnosis of asthma for a period of at least 1 year receiving daily treatment of ics/laba in a stable regimen for \>= 4 weeks * pre-bronchodilator fev1 of \>= 50% and =\ = 200 ml during reversibility testing key exclusion criteria: * patients who have had an asthma exacerbation that required either treatment with systemic corticosteroids for at least 3 days, or an emergency room visit, or hospital treatment within 6 weeks prior to screening and patients with a history of life-threatening asthma attacks * patients who have had a respiratory tract infection within 4 weeks prior to screening. * patients who have smoked or inhaled tobacco products within the past 6 month of screening. * patients with a history of chronic lung diseases other than asthma, including (but not limited to) chronic obstructive pulmonary disease, bronchiectasis, sarcoidosis, interstitial lung disease, cystic fibrosis, and tuberculosis (unless tuberculosis is confirmed as no longer active by imaging). * patients on maintenance immunotherapy (desensitization) for allergies for at least 3 months prior to run-in who are expected to change therapy throughout the course of the study. * patients who during the run-in period are shown to be intolerable to laba withdrawal. * patients who have discontinued lama therapy in the past (e.g. due to intolerance or perceived lack of efficacy).

Keywords: asthma, nva237, glycopyrronium bromide allergic asthma, allergy triggered asthma, reactive asthma, asthma attack, difficulty breathing
the cerebral and cognitive changes after intermittent theta burst stimulation (itbs) treatment for depression

Conditions: Depression, Unipolar; Depression Moderate

Summary: the present project aims to assess the neurocognitive impact of a two-week once-a-day regimen of intermittent theta burst stimulation (itbs) compared to sham itbs, when targeting the left dorsolateral prefrontal cortex (ldlpfc) in clinically depressed outpatients. the study investigates the relationships between changes in cerebral measures and cognitive performance on an n-back task in relation to the antidepressive effect following itbs.

the study is a randomized sham controlled double blind clinical trial in which the changes in cortical functions associated with the anti-depressive effect of two weeks of once-a-day neuronavigated itbs over the left dorsolateral prefrontal cortex (ldlpfc) will be investigated in comparison to sham itbs. participants will be recruited prospectively, and the study is performed at a single university hospital. after written informed consent is obtained from eligible, volunteering patients, baseline measurements will be administrated, and the patient will be allocated to either sham or active itbs once a day for 10 consecutive workdays. a total of three measurements will take place, namely at baseline prior to itbs treatment, after two weeks with itbs treatment (posttest) and four weeks after (follow-up). the primary outcome measures will be assessed from baseline to the posttest.

Eligibility criteria:
inclusion criteria: * patients must meet the diagnostic criteria of at least a moderate depression * the duration of the current depressive episode must have lasted more than 2 weeks but less than 2 years * drug therapy must have been stable for the last three weeks prior to the first treatment day with itbs * patients must volunteer to provide informed consent, be able to follow the treatment schedule and have a satisfactory safety screening for itbs and mri exclusion criteria: * the current depressive episode is in the mild range * the current episode fulfills the criteria for a major depressive episode requiring inpatient treatment and/or electroconvulsive therapy, * the current depressive episode is clearly triggered by grief or a recent major stressful life event * bipolar disorder * borderline personality disorder * psychotic symptoms * alcohol or substance abuse/addiction in the last 6 months * current eating disorders * obsessive- compulsive disorders * post-traumatic stress disorder * a life-time medical history of seizure * neurological or neurosurgical pathologies * cardiac or systemic disease * metallic prosthetic material or foreign objects (pacemakers, prosthetic eye equipment, etc.) * autism * pregnancy * currently using of antipsychotic medication or benzodiazepines - or any medication that interferes with motor threshold excitability
high fodmap diet with metformin in predm

Conditions: PreDiabetes; Impaired Glucose Tolerance

Summary: this is a prospective, double blinded, randomised cross over feeding trial examine high or low fodmap diet in combination with metformin on postprandial glucose responses and gastrointestinal tolerability and gut microbiota profiles. the trial will compare high or low fodmap diet, each of 10 days duration in combination with 5 days metformin, separated by a washout period of at least 2 weeks.


Eligibility criteria:
inclusion criteria: 1. age 18-70 years 2. body mass index 18 to 40 kg/m 2 3. prediabetes defined as impaired fasting pg 5.6-6.9 mmol/l and/or impaired glucose tolerance with 2-hour pg 7.8-11.1 mmol/l on 75g oral glucose tolerance test (ogtt) and/or hba1c 5.7-6.4% at screening exclusion criteria: 1. currently pregnant, lactating, as demonstrated by a positive pregnancy test at screening or planning pregnancy 2. known current diabetes 3. current or previous use of glucose-lowering or weight loss drugs in 3 months prior to screening 4. concurrent participation in other weight loss or lifestyle intervention programmes 5. current use or recent exposure to any medication that in the opinion of the investigator could have an influence on the patient's ability to participate in this study or on the performance of the test device. 6. recent intake of prebiotic/probiotic or antibiotic, immunosuppressants (within 8 weeks of randomisation) 7. extensive skin changes/diseases that preclude wearing the fgm on normal skin at the proposed application sites (e.g., extensive psoriasis, recent burns or severe sunburn, extensive eczema, extensive scarring, extensive tattoos, dermatitis herpetiformis). 8. known uncontrolled thyrotoxicosis 9. known vitamin b deficiency 10. known irritable bowel syndrome or gastrointestinal disorders 11. estimated glomerular filtration rate (egfr) \<45 ml/min/1.73m2 at screening 12. current use of steroids 13. have a known allergy to medical-grade adhesives 14. known current or recent alcohol or drug abuse 15. hypersensitivity to metformin 16. acute or chronic metabolic acidosis, including diabetic ketoacidosis, with or without coma within 3 months of randomisation 17. currently participating in another investigational study protocol where the testing or results may interfere with study compliance, diagnostic results, or data collection. 18. an identified protected vulnerable patient (including but not limited to those in detention, or a prisoner). 19. participants who are on a vegetarian or vegan diet as their habitual diet at screening. 20. participants with clinically significant food allergy to components of the study diet
evaluating the effectiveness of an attachment-focused intervention in preschool children with fasd

Conditions: Fetal Alcohol Spectrum Disorder; Attachment Disorders

Summary: study summary: this study is being conducted in order to rigorously evaluate the real-world effectiveness of a publicly-funded, home-based, attachment-focused intervention circle of security (cos) family intervention model (marvin) in improving caregiving and child outcomes in families who have children with fetal alcohol spectrum disorder (fasd) or who are at-risk for fasd, as delivered under routine practice conditions. hypothesis: at post-test (after 36 sessions and 3-month follow-up), compared to a wait-list control group receiving standard services, the treatment group receiving cos will show greater improvement in caregiver behaviour, as well as child emotional and behavioural outcomes.

see arms and intervention

Eligibility criteria:
inclusion criteria: * two criteria must be present for a family (caregiver-child dyad) to be included in the cos component of the fasd outreach program and its evaluation: * the child was exposed to alcohol prenatally and has been clinically evaluated using the canadian fasd diagnostic guidelines as having fetal alcohol syndrome (fas), partial fetal alcohol syndrome (pfas), alcohol related neurodevelopmental disorder (arnd), or is considered "at risk" for fasd based on their confirmed history of prenatal alcohol exposure and clinical multidisciplinary assessment; and * evidence of disrupted caregiver behaviours or problems in the caregiver-child interaction as identified through a screening process consisting of clinical judgment and the sbsh procedure. exclusion criteria: * children from foster families who have experienced more than 2 placements in the last six months, * children who have an autism diagnosis, * children with a developmental quotient less than 50, * children with sensory impairments (hearing or sight impaired), and * children who are already involved in new directions' 'self regulation therapy project'. children who have parents who are clinically depressed, whose parents have substance abuse or domestic violence issues, or whose parents display a narcissistic devaluation personality trait based on initial clinical evaluation, will also be excluded from study eligibility.

Keywords: fetal alcohol spectrum disorder fasd
finnish imaging of shoulder trauma

Conditions: Shoulder Pain; Shoulder Injuries; Rotator Cuff Tears; Glenoid Labrum Tear

Summary: the fimage-trauma study is an extension of the fimage study and aims to answer the question if rotator cuff tears found on shoulder imaging after a shoulder injury are caused by the index trauma or are rather incidental findings. eligible participants of the fimage study will be invited to a follow up visit in the case of a shoulder injury or a sudden onset of significant shoulder symptoms (within a 2-year time frame). these findings will then be compared to the baseline data collected in the fimage study (including the comparison of pre-injury and post-injury mri:s)


Eligibility criteria:
inclusion criteria: * ambulatory * participated in the fimage * baseline mri from fimage study available exclusion criteria: * contraindications to mri * previous shoulder joint replacement * previous rotator cuff surgery

Keywords: shoulder injury rotator cuff magnetic resonance imaging
tooth mousse and fluoride in dentin hypersensitivity treatment

Conditions: Dentin Hypersensitivity

Summary: gc tooth mousse, a complex containing amorphous calcium phosphate (acp) and casein phosphopeptide (cpp), is recommended in dentin hypersensitivity reduction due to its ability to block opened dentinal tubules. it acts synergistically with fluorine in slowing caries progression. whether cpp-acp can act synergistically with fluorine in the dentin hypersensitivity treatment is unknown. the aim of this study was to assess the effect of cpp-acp combined with fluoride varnish in cervical dentin hypersensitivity treatment.


Eligibility criteria:
inclusion criteria: * subjects with a minimum of three cervical hypersensitive teeth at both sides of the dental arch exclusion criteria: * dentin hypersensitivity caused by caries lesions * fracture of restoration * chipped teeth * marginal gaps * post-operative sensitivity * cracked-tooth syndrome, and which were confirmed by periapical radiographs and teeth with cervical fillings

Keywords: dentin hypersensitivity tooth mousse fluoride varnish
oc and ictp in gingival crevicular fluid during piezocision accelerated orthodontic treatment

Conditions: Tooth Movement

Summary: the aim of this study was to evaluate the tooth movement with and without piezocision with regard to the levels of osteocalcin and cross-linked c-terminal telopeptides of type i collagen in the gingival crevicular fluid.

15 systemically healthy subjects requiring extraction of the maxillary 1. premolars with distalization of the maxillary canines were enrolled to the study. piezocisions were performed on the distal and mesial sides of the right maxillary canines while the left maxillary canines served as controls. canine distalization was performed via closed-coil springs applying 150 g of force per side by using miniscrews as anchorage. gingival crevicular fluid samples were collected from both mesial and distal sides of right and left maxillary canines at 0, 1, 7, 14 and 28 days. the gingival crevicular fluid levels of osteocalcin and cross-linked c-terminal telopeptides of type i collagen were determined by using elisa. the rate of tooth movement was measured on 14 and 28 days.

Eligibility criteria:
inclusion criteria: * class i, class ii or class iii malocclusion, * proclined incisors requiring extraction of the maxillary first premolars with subsequent retraction of the maxillary canines * no previous orthodontic treatment * good oral hygiene and periodontal health (plaque and gingival indices less or equal 1, probing depth less or equal 3 mm, no radiographic bone loss). exclusion criteria: * having systemic diseases that could affect bone and tooth movement * smoking

Keywords: tooth movement piezocision gingival crevicular fluid osteocalcin
prevalence and significance of attr aortic valve amyloidosis in degenerative aortic stenosis

Conditions: Amyloidosis

Summary: cardiac amyloidosis is a restrictive cardiomyopathy with a potentially severe prognosis that can be life-threatening. it is linked in the vast majority of cases to a light chain deposition of immunoglobulin or transthyretin. although myocardial involvement is predominant, other locations are possible: the atrioventricular conduction system, coronary arteries and valve leaflets. in systematic histological analyzes, deposits of amyloidosis infiltrating the aortic valve have been reported with a frequency of up to 74% for degenerative ra. the nature of these deposits has never been established because the immunostaining carried out all remained negative, probably due to decalcification prior to cutting. currently, these deposits are considered to be local degenerative phenomena without clinical repercussions. however, the use of bone scintigraphy has shown a high prevalence, between 14 and 16%, of attr cardiac amyloidosis in patients with severe ra. the diagnosis of attr amyloidosis has been proven histologically in a few patients. sequencing of the ttr gene has shown that they are mainly wild forms. in fact, the prevalence of transthyretin mutations in our local cohort is 20%. the objective of this study is to determine by proteomic analysis based on mass spectrometry, the prevalence of attr aortic valve amyloidosis in patients undergoing surgical valve replacement for degenerative aortic stenosis.


Eligibility criteria:
inclusion criteria: * patient over 18 years old * degenerative aortic stenosis * aortic valve replacement surgery * signature of the informed consent form exclusion criteria: * non-degenerative aortic stenosis: bicuspid, rheumatic disease, aortic regurgitation * persons under a system of legal protection for adults (guardianship, curatorship, etc.) * pregnant women

Keywords: attr aortic valve amyloidosis