Kornimate/medical-research-clean huggingface dataset:
biomarkers for hunter syndrome

Conditions: Hunter Syndrome; Mucopolysaccharidosis II; Hunter's Syndrome, Mild Form; Hunter's Canal Syndrome

Summary: international, multicenter, observational, longitudinal study to establish hunter syndrom biomarker/s and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s

mucopolysaccharides are long chains of sugar carbohydrates, found within the cells that help build bone, cartilage, tendons, cornea, skin, and connective tissue. glycosaminoglycans (gags) are also found in the fluids that lubricate joints. mucopolysaccharidosis (mps) are part of the lysosomal storage disorder (lsd) family, a group of more than 40 genetic diseases, and occur when a particular enzyme exists in a small quantity or is missing altogether. the effect is the accumulation of gags in the cells, blood, and connective tissues, resulting in permanent and progressive cellular damage which affects appearance, physical abilities, organ and system functioning and, in most cases, mental development. mps2 (also called hunter syndrome) is a hereditary, progressive, multisystemic disorder, caused by mutations in the ids gene coding for the enzyme iduronate sulfatase (ids). it is the only type of mucopolysaccharidosis that is x-linked, therefore, if mothers are carriers, there is a 50 percent chance for males to be born with the disease. mps2 has a wide range of symptoms that vary in severity, which can be managed with enzyme replacement therapy (ert). ert is unable to cross the blood-brain barrier, therefore it addresses strictly extra-neurological manifestations. on this note, further efforts are being made to develop novel therapies, in the attempt to stop the disease progression and to offer a better quality of life to the patients. as mps2 is very rare and many medical professionals only see a few or no patients in their lifelong practice, genetic testing is crucial for diagnosis. this study thrives to identify, validate, and monitor potential biomarker/s for mps2 in genetically confirmed samples.

Eligibility criteria:
inclusion criteria: * male individuals * informed consent is obtained from the participant's parent/legal guardian * the participant is aged between 2 months and 50 years of age * the diagnosis of mps ii is genetically confirmed by centogene exclusion criteria: * females * informed consent is not provided by the participant's parent/legal guardian * the participant is younger than 2 months or older than 50 years of age * the diagnosis of mps ii is not genetically confirmed by centogene

Keywords: hunter disease biomarker
rate of duodenal-biliary reflux increases in patients with recurrent common bile duct stones

Conditions: Common Bile Duct Gall Stones; Common Bile Duct GallStones

Summary: ercp is the primary choice for removal of common bile duct stone (cbds) currently. however, 4-24% patients underwent recurrence after successful clearance of cbds. stone re-formation due to chronic inflammation of biliary duct is generally considered an important cause of cbds recurrence, which is associated with duodenal-biliary reflux (dbr) after sphincterotomy. although it was believed that dbr was the important cause of cbds recurrence, the direct evidence was still lacking. here we conducted a case control study to investigate the dbr rate in patients with recurrent cbds after ercp.


Eligibility criteria:
inclusion criteria: * patients with common bile duct stone underwent successful stone removal by ercp in xijing hospital of digestive diseases. exclusion criteria: * gallbladder stones or hepatolithiasis; * stenosis of biliary duct; * incomplete common bile duct stone removal by ercp; * common bile duct stent; * unable to provide informed consent.

Keywords: duodenal-biliary reflux
effect of osteopathic manipulation therapy on pulmonary function testing in children with asthma

Conditions: Asthma in Children

Summary: objective to evaluate change in same-day pulmonary function testing in pediatric patients receiving omt compared to those receiving usual care. methods for this study, we selected patients utilizing the following inclusion criteria: 1) ages 7-18 years, 2) a diagnosis of asthma, 3) patients receiving care at a primary care-based asthma clinic, and 4) those patients who had baseline spirometry. selected patients were then randomized to either an omt or a control group. we excluded patients who were experiencing an acute asthma exacerbation. patients in the omt group were treated with rib raising and suboccipital release, in addition to standard asthma care, while control group patients received standard care only. a second pft was performed on both groups at the end of the visit. omt was performed by multiple osteopathic pediatric residents who were specifically trained for the purposes of this study. change in spirometry results (fvc, fev1, fvc/fev1, and fef 25-75%) were then compared.

objective to evaluate change in same-day pulmonary function testing in pediatric patients receiving omt compared to those receiving usual care. methods for this study, we selected patients utilizing the following inclusion criteria: 1) ages 7-18 years, 2) a diagnosis of asthma, 3) patients receiving care at a primary care-based asthma clinic, and 4) those patients who had baseline spirometry. selected patients were then randomized to either an omt or a control group. we excluded patients who were experiencing an acute asthma exacerbation. patients in the omt group were treated with rib raising and suboccipital release, in addition to standard asthma care, while control group patients received standard care only. a second pft was performed on both groups at the end of the visit. omt was performed by multiple osteopathic pediatric residents who were specifically trained for the purposes of this study. change in spirometry results (fvc, fev1, fvc/fev1, and fef 25-75%) were then compared. note: the omts were done either by our omm attending at that time (dr. wolf) or by residents trained by her for this study (drs. jones, pe, bryant and regan,)

Eligibility criteria:
inclusion criteria: * age as noted above * diagnosis of asthma * scheduled for routine asthma care at our clinic * at least one prior pft done prior to this visit exclusion criteria: * clinical indication for pre- and post-bronchodilator spirometry on day of visit * albuterol use w/in 8 hours of the visit * oral steroid use in previous 2 weeks * diagnosis of asthma exacerbation w/in prior 4 weeks

Keywords: omm
risk stratification of patients presenting with upper gastrointestinal bleeding to the emergency department using aims65 score and red cell distribution width

Conditions: Upper Gastrointestinal Bleeding

Summary: the rationale of this study in ugib patients is to assess whether the prediction of mortality and morbidity using aims65 score improves when used in combination with rdw in the emergency department setting.

ugib is a ticking time-bomb and emergency physicians are challenged to accurately assess risk, and aggressively manage patients with gastrointestinal bleeding within the stipulated time in the confines of emergency department. if not managed properly, it is associated with high mortality. various clinical prediction scores help in risk stratifying such patients. among the scores, aims65 score is the easy to use score and has good mortality predictive accuracy. rdw, once thought as marker of chronic blood loss has recently been identified as a good prognostic indicator as well as good predictor of mortality in conditions where there is acute blood loss. both aims65 score and rdw value have been used separately as a predictor of morbidity and mortality in patients with ugib. but there are not much studies so far evaluating their combined role as marker of predicting mortality as well as high risk among ugib patients. hence there is a need for a study to know the predictive value of combination of aims6s score and rdw in patients presenting to ed with symptoms of ugib not been much studies comparing the relationship between rdw and upper gi bleed. the rationale of this study in ugib patients is to assess whether the prediction of mortality and morbidity using aims65 score improves when used in combination with rdw in the emergency department setting.

Eligibility criteria:
inclusion criteria: 1. all patients presenting to ed with ugib 2. age more than 18 years of age exclusion criteria: 1. patients not consenting to study 2. patients with known hematological disorders 3. patients in which endoscopy or blood transfusion is done outside 4. patients in which rdw value and laboratory parameters required for aims65 score are not available.

Keywords: emergency department, upper gi bleed, risk stratification, mortality, red cell distribution width, aims65 score, receiver observer characteristic curve
macrophage polarization in response to macronutrient intake in healthy humans: a randomized clinical study

Conditions: Atherosclerosis

Summary: macrophages can exhibit distinct phenotypes and functions in response to stimuli and can polarize into one of three distinct phenotypes: a pro-inflammatory (m1), an anti-inflammatory pro-tissue (m2) and metabolically-activated (mme) macrophage phenotypes. thirty-six healthy volunteers were recruited and randomized into one of three macronutrient intake groups (glucose, lipids, proteins). this study measured the effects of macronutrient intake on the macrophage differentiation.

thirty-six normal healthy adult volunteers of normal weight were recruited into the study. all were normotensive, had a normal lipid profile, normal renal and liver function tests, and were not on any medications. all subjects gave their written, informed consent. institutional review board (irb) of the ministry of national guard health affairs (mngha) approved the study protocol. the 36 participants were randomly assigned by the primary investigator (pi) following simple randomization procedure (computerized random numbers) to three different groups, each received one type of macronutrient (glucose, whey proteins or lipids). following an overnight fast, a baseline blood sample was taken. subjects were then given either 300 calories of glucose (nerl trutol 75) or lipids (90 grams whipping cream, 31.5 grams fat, 1.7 grams protein and 2.25 grams carbohydrate) or protein (isopure unflavored whey proteins isolate (wpi) powder containing 26 grams per serving of 100% wpi, stripped of fat, carbs, fillers, sugars and lactose) solution over 5 minutes. cream and protein preparations were diluted with water up to 300 ml solutions. further blood samples were obtained at 1, 2 and 3 hours after the macronutrient intake. subjects, either one week before or after the macronutrient challenge, were given 300 ml of water to drink in the fasting state. blood samples were obtained before and at 1, 2 and 3 h after water intake as well. each subject served as his/her own control and was randomly given macronutrient or water intake.

Eligibility criteria:
inclusion criteria: * normal weight (bmi 18.5-25) * healthy adults evident by: physical examination, normal lipid profile, normal renal and liver function tests. exclusion criteria: * renal disease * hepatic disease * cardiovascular disease * using multivitamins * using nsaids

Keywords: mononuclear cells whey proteins metabolically-activated macrophage macrophage polarization macronutrients
internet-based interventions for mdd

Conditions: Depression; Medication Adherence

Summary: the acute and remission depression patients of 18-65 years old were recruited. at the time of enrollment, the demographic, symptomatic, neuropsychological and medication adherence data was collected. after the completion of the baseline assessment and examination, the patients were given antidepressant treatment or antidepressant treatment combined with internet-based interventions. clinical evaluation was performed at 1, 3 months (acute patients) and 6, 12 months (remission patients) after treatment, including the medication adherence, therapeutic efficacy, recurrence rate and functional rehabilitation. through above work, this research is expected to provide clinicians with a set of internet generalized technologies to improve the compliance and clinical outcomes of patients with depression, and to provide patients with treatment and management of the entire disease cycle.


Eligibility criteria:
inclusion criteria: * age 18-65 years old, acute (hamd17 \> 17) and remission (hamd17 \< 8) depression exclusion criteria: * other mental illnesses, serious somatic illnesses
efficacy of polyglucosamine long term treatment

Conditions: Obesity

Summary: the polyglucosamine, specification l112, is a medical device and in this clinical trial used for weight reduction in moderately obese participants following a long term treatment lasting 12 months. the rationale for this study is to show that overweight can be reduced by taking 2 times daily 2 tablets with the main meals.

two groups of subjects were compared. a comparable diet condition, consisting of 10 % reduction of caloric intake was followed, according to a questionnaire based on the weekly number of servings. no modification of physical activity was requested. one group had to take the polyglucosamine tablets and the other group placebo tablets for at least 12 months. it is known, that polyglucosamine is a fat binder acting in a physical-chemical manner, the positive charged fiber is bound to the negative charged dietary fat and this complex is unable to pass the gut wall into the body but is naturally excreted,hence this energy is not available. therefore, this medical device should show a measurable reduction in body weight.

Eligibility criteria:
inclusion criteria: * bmi \>30 and \< 35 * waist circumference of more than 88 cm for women and greater than 102 for men exclusion criteria: * pregnancy or breast-feeding * alcohol abuse * drug abuse or drug addiction * inability to fulfill the criteria of the trial protocol * cancer diseases * malignant tumors * pre-existence of chronic intestinal disease * known hypersensitivity reactions to crustaceans

Keywords: obesity body weight overweight weight loss polyglucosamine l112 caloric restriction physical activity
nonneoplastic epithelial disorders of vulva and high intensity focused ultrasound

Conditions: Vulva Intraepithelial Nonneoplastic

Summary: nonneoplastic epithelial disorders of skin and mucosa of vulva refer to a group of chronic diseases shown as female genital skin and mucosal tissue degeneration and pigmentation change. the main symptoms are vulval itching, squamous cell hyperplasia, vulval and perianal skin atrophy or thinning, hypopigmentation. the current treatments are primarily local drug or surgical treatments. however, the effect is not good enough, but the diseases often recur and severely affect patients' quality of life. in this study, the investigators combined the technology of high intensity focused ultrasound (hifu) (ultrasound device made by mianyang sonic electronic llc, mianyang china, registration number: 2005-2230099} with special drug to treat. the data from colposcopy and biopsy pathology were collected before and after treatment to create the objective identifying degree of the disease by with "grading methods" and evaluate the treatment effect. at the meantime, the standardized treatment procedure, methods and efficacy criterion were all stipulated to achieve satisfactory results, which could be used to clinical treatments. so far, the investigators have not seen similar study reported internationally.


Eligibility criteria:
inclusion criteria: * patients with clinically and biopsy confirmed non-neoplastic lesions of genital skin and mucous membrane (non-neoplasia epithelial disorders of skin and mucosa of vulva). symptoms include repeated itching, discoloration, rhagades, loss of skin elasticity and dyspareunia that affect the patients' quality of life. exclusion criteria: * atypical hyperplasia or vulvar cancer confirmed by biopsy of genital lesions; * vulvovaginal or other gynecological trauma, acute inflammatory diseases and other acute illness in need of urgent care; * combined with other serious gynecological diseases (symptomatic hysteromyoma, ovarian tumor, etc.), and/or severe organ diseases (such as heart, lung, brain and renal disease/failure) that need immediate treatment; * other type of cancers that require urgent care.
anxiety intervention for preschool children with asd

Conditions: Anxiety Disorder; Autism Spectrum Disorder

Summary: this study evaluates the feasibility, acceptability, and preliminary efficacy of a treatment program for anxiety in preschool children with autism spectrum disorder.

anxiety is highly prevalent in individuals with asd with lifelong impact. in this population, anxiety often emerges when children are very young, yet there are no evidence-based treatments for this age group. cognitive-behavioral treatment (cbt) successfully reduces anxiety levels in young, typically developing children and older children with asd. this study pilots the dino strategies for anxiety and fear of uncertainty reduction (dinosaur) program, which is an integrated treatment program that utilizes cbt modified for young children with asd. the treatment includes heavy doses of parent training to reduce accommodation of the child's anxiety symptoms and interventions targeting fear of uncertainty, a common fear in children with asd. the feasibility, acceptability, and preliminary efficacy of this treatment program will be studied.

Eligibility criteria:
inclusion criteria: * age 4 years 0 months to 6 years 11 months * nviq ≥ 85 based on mullen scales of early learning or stanford binet 5 * expressive and receptive language scores ≥ 85 based on preschool language scale - fifth edition or orals or written language scales, second edition * dsm-5 diagnoses of separation anxiety, social anxiety, and/or generalized anxiety disorder and/or the distinct diagnosis of other social fear based on the results of the anxiety disorders interview schedule/asa exclusion criteria: * history of psychological trauma * history of neurologic illness * parent substance abuse, bipolar disorder, psychosis * parents require support from a medical interpreter * child displays severe behavior challenges * severe eyesight or hearing impairments that may interfere with the protocols * child's behavior prevents their ability to participate in a 1 hour group consisting of various activities (e.g., listening to a story, snacks, playing movement games, completing a craft)
protection against allergy: study in rural environment - part iv

Conditions: Asthma; Atopy

Summary: pasture is a birth cohort of children born to farm and non-farm women from rural areas across europe. five study centres austria, germany, switzerland, france and finland enrolled 1133 children (farmers in about half of the children) to study the origins of asthma and atopy and to develop potential preventive strategies. previous results show a protective effect of farm exposure on allergic risk by livestock contacts and microbial exposures and by raw cow milk consumption in early age. pasture part iv is the 10-year follow up of this birth cohort. the primary objective is to characterize the allergic phenotype between 6 and 10 years old (asthma and allergic rhinitis) and to explain how early age exposures and particularly milk products consumption contribute in the process of allergic illness in childhood. a focus on the characterization of the protective biologically active components in raw milk and identification of immunological mechanisms are involved.


Eligibility criteria:
inclusion criteria: * pature iv is a birth cohort. all children enrolled at the beginning and who still agree to participate will be included at 10-year follow-up. exclusion criteria: -

Keywords: farm children non-farm children
cortical dynamics of inhibitory control: a concurrent tdcs-meg study

Conditions: Impulsive Behavior

Summary: this study aims to use concurrent transcranial direct current stimulation (tdcs) and magnetoencephalography (meg) with measures of impulsivity to examine the neurobiological underpinnings of rapid response impulsivity (rri) and how these can be modified using tdcs in healthy subjects.

concurrent tdcs-meg parallel arms single-blinded experimental design (right anodal v sham tdcs) will be employed in this study. the study will be conducted at the university of nottingham, using a sample of student volunteers. this study aims to examine the influence of anodal tdcs on beta-band and alpha-band oscillatory activities, using an anti-saccade task administered before, during and after tdcs stimulation. it can potentially help understand the neurobiological mechanisms underpinning rapid response impulsivity and how these can be influenced by tdcs. the research hypotheses are that (i) a generalised mechanism for top-down inhibitory control will play a vital role, whereby prefrontal beta-band activity initiates alpha-band activity for functional inhibition over the frontal eye fields and other areas in the neurocircuitry involved in rri; (ii) anodal tdcs (as opposed to sham) delivered over the right dlpfc will enhance this mechanism; and (iii) there will be no significant correlations between measures of self-report impulsivity and performance on the anti-saccade task and measures of oscillatory activity.

Eligibility criteria:
inclusion criteria: * university students and staff * aged 18-40 exclusion criteria: * individuals with epilepsy and other neurological conditions, history of significant head injury, substance misuse, major mental disorder and those receiving psychotropic medication. * contraindications to use of magnetic resonance (pacemakers, metal implants, aneurysm clips) * pregnancy.