Kornimate/medical-research-clean huggingface dataset:
neonatal screening of biotinidase deficiency: genotype-phenotype correlation and clinical follow-up

Conditions: Biotinidase Deficiency

Summary: retro-prospective, single-centre, observational study conducted at the endocrine-metabolic diseases center of the pediatrics unit, irccs azienda ospedaliero-universitaria di bologna, italy. the study involves children born in emilia-romagna region, italy, from january 2016 to december 2020 with biotinidase deficiency identified through neontal screening at the endocrine-metabolic diseases center of the pediatrics unit, irccs azienda ospedaliero-universitaria di bologna, italy. the primary aim of this study is to assess the incidence of biotinidase decificiency in this cohort of patients and the possible correlation between the genotype and the biochemical and clinical phenotype of this cohort of patients.

the study consists of the retrospective collection and analysis of clinical, biochemical and genetic data of pediatric patients who were taken in charge for biotinidase deficiency at the endocrine-metabolic diseases center of the pediatrics unit, irccs azienda ospedaliero-universitaria di bologna, italy, following neonatal screening positivity. for this cohort of patients, a clinical evaluation is planned annually after the diagnosis of biotinidase deficiency for the identification of possible long-term complications. a clinical follow-up of at least 36 months is expected. according to clinical practice, parents of pediatric patients with biotinidase deficiency identified through neonatal screening will undergo molecular genetic analysis for specific familial mutations of the btd gene, but will not be followed up.

Eligibility criteria:
inclusion criteria: for pediatric patients * neonatal screening test result of residual biotinidase enzyme activity \<50% carried out from january 2016 to december 2019 at the endocrine-metabolic diseases center of the pediatrics unit, irccs azienda ospedaliero-universitaria di bologna, italy; * neonatal screening test result of residual biotinidase enzyme activity \<30% carried out from january 2020 to december 2020 at the endocrine-metabolic diseases center of the pediatrics unit, irccs azienda ospedaliero-universitaria di bologna, italy; * obtaining informed consent from parents or legal guardian of pediatric patients. for parents * being a parent of a paediatric patient enrolled in the study; * availability of parental data; * obtaining informed consent. exclusion criteria: * subjects with known chromosomal abnormalities or complex syndromes.

Keywords: biotinidase deficiency
connectivity and social cognition in adolescent girls with borderline personality disorder, a pilot study

Conditions: Adolescent Behavior; Borderline Personality Disorder

Summary: the disruption of social cognition associated with borderline personality disorder (bpd), and more specifically categorization of facial emotions, remains largely under-studied, despite the high frequency of this pathology in the clinical population. the first results differ from the observations made in adults and this confirms the relevance of studying this theme specifically in adolescence. on the cognitive level, there is a disturbance of the detection and the categorization of the facial emotions in the tpl. the characteristics of this disturbance and its possible association with an attack on the connectivity of the brain remain unknown in adolescence. no functional imaging studies are published in adolescent tpl. this pilot bimodal functional imaging study eeg-nirs aims to collect preliminary and feasibility data to support a response to upcoming phrc competitions and eventually offer a science thesis opportunity.


Eligibility criteria:
inclusion criteria: * adolescents 14-17 years of age with suicidal behavior and a borderline personality disorder for whom consent is obtained from parental authority, * affiliation to social security exclusion criteria: * intellectual disability, psychopathy, delusional or concomitant major depression
weight regain after consumption of food supplement and interventional diet program

Conditions: Obesity; Overweight; Weight Loss; Body Weight Changes; Weight Change, Body

Summary: effect of the dietary supplement (fat-binder damm) on weight regain after 9 months of control weight program

* 60 participants will consume experimental product every day 3 sticks of the dietary supplement (1.4 grams/stick) during 12 months: 2 sticks should be consumed before lunch and 1 stick before dinner. during the 12 first weeks, each volunteer will be included on a low weight program (ppp) with an individual hypocaloric diet planning and regular physical adapted activity (ppp period). when ppp period is over, volunteers will continue consuming the product for 9 months more (post-ppp period). * 60 participants will consume everyday 3 placebo sticks (1.4 grams/stick) during 12 months: 2 sticks should be consumed before lunch and 1 stick before dinner. during the first 12 weeks, each volunteer will be included on a low weight program (ppp) with an individual hypocaloric diet planning and regular physical adapted activity (ppp period ). when ppp period is over, volunteers will continue consuming the product for 9 months more.

Eligibility criteria:
inclusion criteria: * men and women ranging from 18 to 65 years old. * bmi ≥27 and \<40 kg/m2. overweight type ii, obesity type i and ii * social or familiar environment that prevents from accomplishing the dietary treatment. * willingness to follow a balanced hypocaloric diet in order to lose weight and perform regular physical adapted activity. * adequate cultural level and understanding of the clinical trial. * signed informed consent. exclusion criteria: * individuals diagnosed with diabetes mellitus type i. * individuals diagnosed with diabetes mellitus type ii on pharmacological treatment. * individuals with dyslipidemia on pharmacological treatment. * individuals with hypertension on pharmacological treatment uncontrolled. * individuals allergic to yeast. * individuals with chronic diseases (hepatic, kidney...). * individuals who have participated in the last 6 months in a program or clinical trial to lose weight. * individuals receiving at least the preceding 2 months a pharmacological treatment that modifies the lipid profile (for example, statins, fibrates, diuretics, corticosteroids, ados). * pregnant or breastfeeding women.

Keywords: obesity overweight weight loss body weight maintenance weight change, body saccharomyces cerevisiae beta-glucans
testing the use of prompts to increase adolescent immunization rates

Conditions: Vaccine Preventable Diseases; Meningococcal Disease; Human Papillomavirus; Pertussis; Influenza

Summary: although most us adolescents visit their primary care doctor, their immunization rates are low. primary care practices from two networks, one in upstate new york as well as a national network of pediatric clinics were surveyed to ask what they thought was the best strategy to increase immunization rates. point-of-care prompts (either by an electronic health record message or by a nurse) when an adolescent patient comes in for any type of visit and is due for a vaccine was chosen. this study will determine if these prompts will increase immunization rates after a 12-month intervention period.


Eligibility criteria:
inclusion criteria: * adolescents aged 11 - 18 who had a visit to their primary care provider during the 12 month intervention period exclusion criteria: * adolescent is pregnant during intervention time period

Keywords: adolescent immunization rates provider prompts
transfusion requirements in transcatheter aortic valve implantation (tritavi) study

Conditions: Transcatheter Aortic Valve Implantation (TAVI); Blood Transfusion; AKI; Prognosis; Aortic Valve Stenosis

Summary: periprocedural bleeding events are frequent during transcatheter aortic valve implantation (tavi), mainly driven by vascular complications and are associated to a worse prognosis. therefore, red blood cell (rbc) transfusion is often required, although it is associated with worsened outcomes. there is no consensus on the optimal transfusion strategy after bleeding. the transfusion requirements in transcatheter aortic valve implantation (tritavi) will be a multicenter retrospective registry enrolling consecutive patients who underwent tavi; the primary aim of the study will be to test whether rbc transfusion is a marker or an independent predictor of adverse events.

periprocedural bleeding events are frequent during transcatheter aortic valve implantation (tavi), mainly driven by vascular complications and are associated to a worse prognosis. therefore, red blood cell (rbc) transfusion is often required, although it is associated with worsened outcomes. there is no consensus on the optimal transfusion strategy after bleeding: among patients undergoing cardiac surgery, the transfusion requirements in cardiac surgery (trics) iii trial documented that a restrictive rbc transfusion strategy (if hemoglobin level was \<7.5 g/dl) was noninferior to a liberal approach (if hemoglobin level was \<9.5 g/dl) with respect to the composite occurrence of death, myocardial infarction (mi), stroke, or new-onset renal failure with dialysis. the transfusion requirements in transcatheter aortic valve implantation (tritavi) will be a multicenter retrospective registry enrolling consecutive patients who underwent tavi; the primary aim of the study will be to test whether rbc transfusion is a marker or an independent predictor of adverse events. patients will be stratified according to their lowest hemoglobin value (\>9.5 g/dl, 7.5-9.5 g/dl and \<7.5 g/dl) and to whether they received or not periprocedural rbc transfusion. the primary endpoint will be the 30-day occurrence of major adverse cardiovascular events (mace), as death, myocardial infarction (mi), stroke, or acute kidney injury (aki, as absolute increase in serum creatinine ≥0.3 mg/dl \[≥26.4 μmol/l\] or ≥50% increase ≤72 hours).

Eligibility criteria:
inclusion criteria: * patients undergoing transcatheter aortic valve implantation (tavi) exclusion criteria: * age\<18 years
effects of antiemetic agents in orthognathic surgery patients

Conditions: Emesis, Postoperative; Maxillofacial Abnormalities

Summary: in an effort to prevent or treat consistently high rates of ponv following maxillofacial operations, several medications, techniques and multimodal protocols have been studied. in the present study, the investigators hypothesized that combining metoclopramide with granisetron will improve ponv incidence when compared with granisetrone alone.

despite advances in anesthetic techniques and antiemetic drugs that accompany increasing awareness of anesthesia providers, postoperative nausea and vomiting (ponv) remains one of the most common problems after general anesthesia. ponv is one of the major problems leading to patient dissatisfaction, prolonged stay in postoperative care unit and hospital, readmissions and thus it can increase health care costs. in the studies performed in ponv prone patients and high-risk surgeries, as compared with other antiemetic medications, "setrons" provided lower nausea and vomiting incidence postoperatively, but were unable to completely prevent this "big little" problem.the blood in the stomach has been indicated as one of the major causes of ponv following maxillofacial surgery thus, using metoclopramide may relieve the complaints by evacuating this irritant. after institutional ethic committee and national medicines, 66 consecutive patients, classified as asa i and ii physical status and aged between 18 and 60 years were included in the study. apfel's simplified ponv risk score including female sex, history of motion sickness or ponv, smoking status and predicted use of postoperative opioids was recorded.procedures were performed under general anesthesia. patients in group g received 3 mg granisetron (neoset, deva, istanbul) and the patients in group gm received 3 mg granisetron + 10 mg metoclopramide (metpamid, sifar i̇laç, istanbul) 30 minutes before the end of operation intravenously. a nursing staff collected the data concerning ponv, vas, systolic, diastolic and mean arterial pressures, heart rate, peripheral arterial saturation, total doses of drugs used, overall bleeding score, infused fluid volume, vas, surgical procedure, duration of surgery and rescue antiemetics for nausea if applied for 24 hours.

Eligibility criteria:
inclusion criteria: * undergoing orthognathic surgery * asa i and ii physical status * aged between 18 and 60 years * must be volunteer to take study drugs exclusion criteria: * unable or unwilling to give informed consent * underwent to genioplasty * documented hypersensitivity to study drugs * gastroesophageal reflux or hiatal hernia * diabetes mellitus * renal insufficiency * pregnancy * electrolyte imbalance * neurological disease * mental retardation * prolonged qt interval.

Keywords: anti-emetic agent orthognathic surgery granisetron metoclopramide
proliverenol supplementation for non-alcoholic fatty liver disease (nafld)

Conditions: Non-Alcoholic Fatty Liver Disease (NAFLD)

Summary: this is a 4-arm, prospective, randomized, double-blind, double-dummy, and placebo-controlled clinical study comparing proliverenol at a dose of 500 mg twice daily; proliverenol at a dose of 1000 mg once daily; proliverenol at a dose of 1000 mg twice daily; and placebo two caplets daily for a 12-week course of therapy. proliverenol is a bioactive fraction derived from the dried fruit of phaleria macrocarpa (scheff.) boerl (thymelaeaceae). proliverenol possesses a hepatoprotective activity via anti-inflammation, dna repairing, and the antiapoptosis properties.

there will be 4 groups of treatment; each group will consist of 20 subjects with the treatment regimens for 12 weeks: treatment i : 1 caplet of proliverenol 500 mg twice daily treatment ii : 2 caplets of proliverenol 500 mg once daily treatment iii : 2 caplets of proliverenol 500 mg twice daily treatment iv : 2 caplets of placebo daily study subjects will be asked to come to the clinic every 4-week interval throughout the study period. subjects will be evaluated for treatment efficacy at baseline and at interval of 4 weeks over the 12-week course of therapy. throughout the 12-week therapy, subjects should record the product consumption and adverse event occurred during the study in the provided patient's diary. the safety profile of study medication other than vital signs and adverse event will be measured at baseline and end of study.

Eligibility criteria:
inclusion criteria: 1. signed informed consent 2. male or female subjects with age of 18 years or older at screening. 3. diagnosed as nafld with liver ultrasonography (usg). patients with bright liver appearance based on usg, will be followed by cap examination. steatosis is defined if cap \>263 db/m 4. presence of hepatic impairment, defined as any of serum alt level \> uln 5. able to take oral medication. exclusion criteria: 1. suspected positive covid-19 based on clinical symptoms or sars-cov-2 antigen test 2. pregnancy and lactation period. 3. suspected alcoholic liver disease 4. history of or presence of autoimmune liver diseases 5. presence of bilirubin level \> 2x uln 6. uncontrolled diabetes mellitus with hba1c ≥ 9.0% 7. history or presence of significant/advanced cv, metabolic, acute or chronic infectious diseases, including viral hepatitis (b and c), or malignancy. 8. suspected cirrhosis as supported by biochemical profile (plt count, albumin) 9. presence of severe renal dysfunction 10. current or regular use of drug-induced hepatotoxicity, such as: such as non-steroidal anti-inflammatory drugs (nsaids), antibiotics, anti-epileptic drugs (e.g. carbamazepines, phenytoin, barbiturates), or anti-tuberculous drugs other than the investigational product 11. current or regular use of herbal medicines with hepato-protective properties 12. known or suspected hypersensitivity to the trial product or related products

Keywords: nafld proliverenol
effects of oral cholecalciferol (vitamin d3) on bone health, neuromuscular function, and quality of life in adults with chronic kidney disease

Conditions: End Stage Renal Disease

Summary: will oral vitamin improve strength, bone quality, pain and quality of life. this is a double blind, randomized placebo controlled study using 10,000 iu of cholecalciferol vs placebo.

the proposed study is be a randomized, double-blind, placebo-controlled trial of supplementation with oral vitamin d3. each subject will take a once-weekly capsule containing vitamin d3 or a an identical-appearing placebo for a treatment period of 15 weeks. subjects will be assessed for bone pain and tenderness, neuromuscular function, physical performance score, and quality of life assessment. a subset of subjects will have bone biopsies performed before and after intervention.

Eligibility criteria:
inclusion criteria: * on dialysis * likely to be able to complete the study * at least minimally ambulatory, with or without a walking aid (i.e., cane or walker) * able to complete the various questionnaires interactively with the research nurse * venous access that can be accomplished without unusual difficulty.

Keywords: dialysis vitamin d
covid-19 critically ill patients' evolution after medical transport by train from paris intensive care units to west of france intensive care units

Conditions: COVID-19; Intensive Care Unit Syndrome

Summary: since early 2020, france knows a sanitary crisis with a massive influx of covid-19 patients admitted in intensive care units (icu). it led to a saturation of the french health system, especially in some geographic areas such as east of france or paris region. therefore, authorities decided to transfer some critically ill patients from these crowded icus to less busy regional icus. it was done for the first time by medical train transportation. knowing that the investigators lack experience regarding this type of medical evacuation, regarding the high number of transferred patients, with such a logistic effort, the investigators decided to study this phase of the covid-19 sanitary crisis in order to draw a feedback. so far, there are no data in the literature regarding this topic.


Eligibility criteria:
inclusion criteria: * age \> 18 years * covid-19 positive patients admitted in intensive care unit between 15/03/2020 and 15/04/2020 * patients (or legal representative) with no opposition to inclusion in medical research protocol * regarding case group : patients transferred from paris's icu * regarding case control group : patients admitted in icu with no transfer from paris exclusion criteria: - \> 18 years under legal protection and patients with liberty restriction

Keywords: medical transport by train
long term prophylactic therapy of congenital long qt syndrome type iii (lqt3) with ranolazine

Conditions: Long QT Syndrome Type 3

Summary: the purpose of this study is to determine whether ranolazine will reduce the risk of arrhythmic events in patients with long qt syndrome type 3.


Eligibility criteria:
inclusion criteria: * long qt patients with genetic confirmation of carrier-status for the d1790g mutation in the scn5a gene * corrected qt interval \> 460 msec exclusion criteria: * need for therapy with medications that are potent or moderately potent cyp3a inhibitors (such as ketoconazole, diltiazem, verapamil, macrolide antibiotics or hiv protease inhibitors)

Keywords: long qt syndrome ranolazine
treatment of acute stroke with cromolyn(single dose)

Conditions: Acute Stroke

Summary: mastocytes were proven to have a central rule in their development of the lipoid plaque of the vascular system. mastocytes also has an important role in the stabilisation of the plaque in the building of the brain barrier. different animal studies show that the inhibition of the mastocyte activity decreases significantly the risk of secondary bleeding post ischaemic stroke.it was also shown that post stroke inflammation process was also blocked by the inhibition of mastocytes.other studies showed up to 100% decrease in the brain barrier disruption and post stroke oedema, after treatment with mastocyte inhibitors. cromolyn is a synthetic drug which has an anti-allergic effect by inhibition of the mastocytes. this drug is a well known,safe drug and is the main sub-substance that was used in the previously mentioned studies.


Eligibility criteria:
inclusion criteria: 1. infarction of the anterior circulation system. 2. both genders 3. age \> 20 years 4. nihss \> 5 - exclusion criteria: 1. non- ischaemic stroke 2. additional disease of the cns 3. known allergy to cromolyn 4. diseae of mastocytosis 5. renal or hepatic failure (acute or chronic) 6. inability to sign consent form (dementia or sensory aphasia) 7. lacunar infarctions 8. infarction present in cerebellum or brain stem -
acute pancreatitis: study of possible etiologies and risk factors affecting outcome

Conditions: Pancreatitis

Summary: this study is to assess the frequency of different etiologies of acute pancreatitis in our locality \& assess the effect of different risk factors on outcome of the patients.


Eligibility criteria:
inclusion criteria: - diagnosis of acute pancreatitis according to the following: the presence of two of the three following criteria: * abdominal pain consistent with the disease * serum amylase and or lipase greater than three times the upper limit of normal * characteristic findings from abdominal imaging contrast-enhanced computed tomographic (cect) and or magnetic resonance imaging (mri) of the pancreas exclusion criteria: * no exclusion criteria .

Keywords: pancreatitis