Kornimate/medical-research-clean huggingface dataset:
tg gene mutations and congenital hypothyroidism

Conditions: Congenital Hypothyroidism

Summary: the aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.

congenital goitrous hypothyroid is commonly linked to thyroglobulin (tg) gene mutations.we aim to identify mutations in the tg gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.four related patients with congenital goiter hypothyroidism from an inbred family were studied.recombinant human tsh stimulation test, dna sequencing and protein computer analysis were performed.we identified a novel compound heterozygous constellation (ivs30+1g\>t/a2215d) in two siblings. it was also identified a homozygous intronic mutation (ivs30+1g\>t) in their cousins, one of them with fetal goiter. the mutation ivs30+1g\>t promotes an aberrant splicing and loss of the entire exon 30 (138 nt) in the resulting messenger rna. the recent described mutation a2215d is located in the ache-like domain, which functions as a dimerization domain, facilitating efficient intracellular transport of the protein. protein computer analysis suggested that the a2215d mutation causes tg structural alterations.a novel compound heterozygous constellation (ivs30+1g\>t/a2215d) and the previously described mutation (ivs30+1g\>t) that cause severe congenital hypothyroidism due to defective tg synthesis have been identified. the mutation ivs30+1g\>t may be related to fetal goiter and hypothyroidism due to tg instability and impaired tg export to the colloid. this study shows the efficiency of the use of rhtsh in the differential diagnosis of ch due to tg defective synthesis and the importance of molecular diagnosis of ch for possible intrauterine treatment, thereby avoiding damage to the neuropsychomotor system.

Eligibility criteria:
inclusion criteria: * patients with congenital hypothyroidism due to thyroglobulin defective synthesis. exclusion criteria: * patients with another disease.

Keywords: thyroglobulin gene congenital hypothyroidism gene mutations fetal goiter iodine nutrition
evaluating the efficacy of the combination of multi-zonal contact lens and atropine for controlling myopia progression

Conditions: Myopia

Summary: the aim of the study is to explore efficacy of combination atropine and multifocal cl. randomized control trial including 4 arms: atropine / multizonal cl; atropine/ sv cl, placebo drop/ multizonal cl; placebo drop/ sv cl. followed over 1 year with outcome measure of change in spherical equivalent and axial length.

see above

Eligibility criteria:
inclusion criteria: * between 7 and 12 (inclusive) years of age at the time of screening. * spherical equivalent of cycloplegic objective refraction (by autorefraction) range of -0.75 d to -4.50 d (inclusive) in each eye. * refractive cylinder less than 1.12 d (inclusive) * best-corrected visual acuity (bcva) of 0.04 logmar or better in each eye, with difference less than 0.20 logmar between eyes. * have normal eyes (i.e., no ocular medications or infections of any type). exclusion criteria: * past or current use of myopia control treatment or involvement in previous myopia control study * any current or seasonal use of ocular medication (eg. for allergy or chronic blepharitis). * hypersensitivity or allergic reaction to atropine, cyclopentolate, topical anesthetics or study approved rewetting drop solutions available in local markets. * previous history or signs of a contact lens-related corneal inflammatory event (e.g., past ulcer or scar) that may contraindicate contact lens wear. * any ocular allergies, infections or other ocular abnormalities that are known to interfere with contact lens wear and/or participation in the study. this may include, but not be limited to entropion, ectropion, extrusions, chalazia, recurrent styes, ocular hypertension, glaucoma, history of recurrent corneal erosions, aphakia, uveitis, severe keratoconjunctivitis sicca, keratoconus, keratoconus suspect, and pellucid marginal degeneration. * grade 3 or greater palpebral conjunctival observations or any other grade 2 or greater slit-lamp findings (eg. edema, corneal neovascularization, corneal staining, conjunctival injection) on the iso 11980 classification scale. * any central corneal scar or corneal distortion resulting from ocular diseases or previous hard or rigid permeable contact lens wear.

Keywords: myopia intervention
continuous norepinephrine administration and blood pressure stability during anesthetic induction

Conditions: Blood Pressure; Perioperative Hypotension

Summary: this is a randomized trial investigating whether continuous norepinephrine administration via an infusion pump - compared to manual bolus administration - increases blood pressure stability within the first 15 minutes of anesthetic induction in non-cardiac surgery patients. the secondary endpoints area under a map of 65, 60, 50, and 40 mmhg \[mmhg × min\], cumulative duration of a map \ 100, \>110, \>120, and \>140 mmhg \[min\] and cumulative dose of norepinephrine indexed to body weight \[μg/kg\] within the first 15 minutes of anesthetic induction will be assessed.

not provided

Eligibility criteria:
inclusion criteria: * age ≥ 45 years * american society of anesthesiologists physical status ii-iv * scheduled for elective major non-cardiac surgery under general anesthesia * continuous intraarterial blood pressure monitoring using a radial arterial catheter for clinical indications not related to the trial * sinus rhythm exclusion criteria: * clinical indication to use a continuous norepinephrine infusion via an infusion pump during anesthetic induction * need for femoral artery catheterization * history of intracranial bleedings or aneurysms * patients who are incapable of giving consent * pregnancy

Keywords: blood pressure stability
evaluation of effects of dibifree® on regulation of blood sugar and hba1c in patients with type ii diabetes

Conditions: Type II Diabetes

Summary: at present, diabetic patients mainly use drugs to control blood sugar. however, drugs have side effects and the control effect varies among individuals. even if diabetic patients can control their blood sugar well, long-term medication will still cause a series of complications, including retinopathy, nephropathy, diabetic foot, heart disease, etc. vascular disease issues, etc. this study will focus on the changes in hba1c and blood sugar in patients with confirmed diabetes after taking "dibifree®" food supplement.


Eligibility criteria:
inclusion criteria: 1. age: 20 years old (inclusive) or above, gender is not restricted 2. diagnosed with type 2 diabetes 3. hba1c \> 6.5% 4. coagulation function and platelets are normal 5. participants voluntarily join this treatment course and sign the informed consent form 6. not taking other supplements containing blood sugar regulating properties for at least one month exclusion criteria: 1. women who are pregnant, lactating or planning to have children 2. have factors that significantly affect the absorption of oral drugs, such as inability to swallow, chronic diarrhea, intestinal obstruction, etc. 3. uncontrolled hypertension (\>180/110 mmhg) 4. people suffering from stroke, elderly dementia, alzheimer's disease and other brain diseases 5. during this study, the subject used other drugs or treatments that may interfere with this study in addition to blood sugar control medications. 6. got\>4 times normal value; gpt\>4 times normal value 7. creatinine\>4 times the highest normal value 8. those who are determined by the project administrator to be unfit to participate in this clinical study
the impact of zinc and probiotics in preventing pediatric antibiotic-associated diarrhea in southern iran

Conditions: Antibiotic-associated Diarrhea; Diarrhea

Summary: the impact of zinc and probiotics in preventing pediatric antibiotic-associated diarrhea in southern iran

the participants will be children aged 3 months to 3 years.the zinc group received oral zinc supplementation; 2.5 ml every 12 hours for children aged \<1 year and 5 ml every 12 hours for older children; the probiotics group received oral probiotics; 1 probiotic sachet; and the control group received nothing.

Eligibility criteria:
inclusion criteria: 1. children aged 3 months to 3 years 2. prescribed antibiotics for various medical conditions exclusion criteria: 1. diarrhea, dysentery 2. underlying chronic disease

Keywords: antibiotic-associated diarrhea children zinc, probiotics zinc probiotics
long-term outcomes of endoscopic resection (er) of lesions of the duodenum and ampulla

Conditions: Adenoma, Villous

Summary: this research project, 'outcomes of endoscopic resection of mucosal and submucosal lesions in the duodenum and ampulla'. the research project is aiming to determine the most effective and safe way to remove such lesions.

endoscopic resection (er) of superficial lesions of the duodenum and ampulla is a safe and effective surgery sparing modality in experienced hands. it is often curative of dysplastic lesions and is associated with minimal complications and high patient acceptance (1-5). westmead hospital has accumulated a significant amount of experience in the removal of such lesions; however, there is limited research to document the long term outcomes of patients undergoing endoscopic resection.the purpose of this study is to evaluate the long-term outcomes of er of superficial lesions of the duodenum and ampulla.

Eligibility criteria:
inclusion criteria: \* duodenal and ampullary lesion \> 10mm * lesion limited to the mucosal and/or submucosal layer (t1 lesion) * aged 18 years or older exclusion criteria: * lesion less than 10mm * duodenal or ampullary lesion involves the muscularis propria (t2 lesion) on other staging modalities such as endoscopic ultrasonography (eus) * aged younger than 18 years
this is an early study to investigate the effect of gimatecan® in adults with malignant glioma.

Conditions: Malignant Glioma

Summary: gimatecan® is sigma-tau research's new, potent, oral topoisomerase i inhibitor. drugs in this class play a crucial role in destroying dna replication in tumors. we are conducting this study to determine the maximum tolerated dose of our compound. in addition, we plan to assess the drug's ability to affect the evolution of malignant gliomas, when given as a capsule, rather than by intravenous injection.


Eligibility criteria:
inclusion criteria: * histologically confirmed diagnosis of a recurrent primary malignant glioma * life expectancy of at least 3 months with normal hematological, liver and renal function exclusion criteria: * pregnant and lactating patients * participation in any investigating drug study within 4 weeks preceding treatment start or concurrent treatment with any other anti-cancer therapy * gastrointestinal dysfunction that could alter absorption or motility

Keywords: malignant glioma, camptothecin, pharmacokinetics
peer professionals to increase capacity to treat adhd

Conditions: Attention Deficit and Disruptive Behavior Disorders

Summary: the goal of this 1-year project is to evaluate a service delivery model by peer support organizations to increase mental health service access and utilization for children at risk for attention-deficit/hyperactivity disorder (adhd) from socioeconomically disadvantaged, urban communities. behavioral parent training \[bpt\] currently delivered directly by family peer advocates (fpas), will be evaluated in a sample of 18 families on child outcomes.

the goal of this 1-year project is to further refine and evaluate an existing and employed potentially highly sustainable and scalable service delivery model that leverages peer support organizations to increase mental health service access and utilization for children at risk for attention-deficit/hyperactivity disorder (adhd) from socioeconomically disadvantaged, urban communities by improving the delivery of an evidence-based treatment (i.e., behavioral parent training \[bpt\]) currently delivered directly by family peer advocates (fpas) to parents of these children. specifically, through an iterative, single-case cohort design, the investigators will work with fpas to iteratively refine an existing and employed intervention model with three cohorts of parents (n= 6 families/cohort over 3 cohorts with a total sample size of 18 families). the investigators will collect information from parents before, during and after bpt to assess the impact of bpt on parents perceptions of their child's behavior and functioning, and parenting factors (e.g., parenting behavior, stress, depressive symptoms). in addition, the investigators will utilize this project to gain a better understanding of how best the position the fpa adhd model within the broader service delivery system through qualitative interviews with these parents to assess their experience and insights into improving the model. this research project is an effort at evaluating an existing intervention model and refining it through an iterative process.

Eligibility criteria:
inclusion criteria: * being a parent of a child who is seeking services through a participating vibrant emotional health site * being an adult over the age of 18 * having a child between the age of 5-12 * parent must speak english, spanish, mandarin, and/or cantonese. exclusion criteria: • parent presenting with severe mental health illness (e.g., schizophrenia; bipolar disorder) that would warrant immediate services.
cardiovascular complications in children with covid 19

Conditions: COVID 19 Associated Coagulopathy

Summary: prevalance of cardiovascular complications in children with covid 19 in assuit university children hospital

in december 2019, coronavirus disease 2019 (covid-19) was first described in wuhan, china, in patients complaining of flulike symptoms.1 the virus was isolated and identified as a new strain of coronavirus, now named sars-cov-2 (severe acute respiratory syndrome coronavirus 2 ) . cardiovascular complications of covid-19 have received less medical attention; nevertheless, the first cases of myocarditis in covid-19 patients have been reported,3, 4, 5, 6 and myocarditis has been recognized as the cause of death in some covid 19 patients.7 pathology usually is focal within the myocardium, but there is a risk of arrhythmia as well as progression to fulminant heart failure and cardiogenic shock. clinical presentation of sars-cov-2 myocarditis varies among cases. some patients may present with relatively mild symptoms, such as fatigue and dyspnea,4 , 5 whereas others report chest pain or chest tightness on exertion.3 , 6 many patients do deteriorate, showing symptoms of tachycardia and acute-onset heart failure with cardiogenic shock.3, 4, 5 in these severe cases, patients may also present with signs of right-sided heart failure, including raised jugular venous pressure, peripheral edema, and right upper quadrant pain.10 the most emergent presentation is fulminant myocarditis, defined as ventricular dysfunction and heart failure within 2-3 weeks of contracting the virus.8 the early signs of fulminant myocarditis usually resemble those of sepsis: the patient often presents febrile with low pulse pressure, cold or mottled extremities, and sinus tachycardia.10 myocarditis is an inflammatory disease of the heart characterized by inflammatory infiltrates and myocardial injury without an ischemic cause.8 the most commonly identifiable cause of myocarditis in the united states and other developed countries is viral.9 , arrhythmia is recognized as one of the possible clinical manifestations of covid-19 patients. one observational study of the clinical characteristics of covid-19 patients in hubei, china, reported a 7.3% incidence of heart palpitations among its 137 patients 13 moreover, wang et al reported that arrhythmia was a cause of intensive care unit transfer in 44.4% of covid- coagulation and inflammatory parameters are mildly altered in covid-19 infection, whereas mis-c is characterized by laboratory evidence of a proinflammatory and procoagulant state

Eligibility criteria:
inclusion criteria: * patient less than 18 years old presented with covid 19 exclusion criteria: * not presented with covid19
intravenous versus oral acetaminophen for postoperative pain control after cesarean delivery

Conditions: Pain, Postoperative

Summary: this study will compare iv (intravenous) versus oral (po) acetaminophen for postoperative pain after scheduled, elective cesarean delivery. all patients will receive a standardized spinal anesthetic for operative anesthesia and will be randomized into one of three groups: (group 1) 1 gram iv acetaminophen every 8 hours for three doses, (group 2) 1 gram oral acetaminophen every 8 hours for three doses, or (group 3) no acetaminophen. this will be a randomized, open label study.

this study will compare iv versus po acetaminophen for postoperative pain in parturients after scheduled, elective cesarean delivery. it is designed as a randomized, open label, controlled trial. all patients will receive a standardized spinal anesthetic for operative anesthesia and will be randomized into one of three groups: (group 1) 1 gram iv acetaminophen every 8 hours for three by a computer generated list.

Eligibility criteria:
inclusion criteria: * parturients 18 years * elective cesarean delivery * spinal anesthesia * able to consent to the study and participate in the follow-up. exclusion criteria: * weight under 50 kgs * allergy to acetaminophen * general anesthesia * urgent or emergent cases * bleeding diathesis or other coagulopathy * g6pd deficiency * liver disease * substance abuse or dependence * hellp syndrome * thrombocytopenia or platelet dysfunction * history or active gastrointestinal bleeding * acute kidney injury or chronic renal insufficiency * contraindication/refusal to spinal anesthesia * chronic pain * chronic narcotic use * illicit drug use * allergy to any study related medications.

Keywords: acetaminophen pain, postoperative analgesia, obstetrical cesarean section
3d echocardiographic assessment of rv function in patients undergoing pulmonary endarterectomy

Conditions: Chronic Thromboembolic Pulmonary Hypertension

Summary: chronic thromboembolic pulmonary hypertension causes progressive right heart hypertrophy, dilatation and dysfunction. surgical treatment is pulmonary endarterectomy, which although only carried out in a single uk centre, provides an excellent model for assessing right ventricular function. right heart function is most commonly assessed using echocardiography, either transthoracic pre- and post-operatively, or transoesophageal intra-operatively. measurement of tricuspid annular plane systolic excursion is the best validated and most commonly performed measurement for right heart function, however it may be inaccurate after sternotomy and pericardial opening, making accurate assessment difficult immediately after surgery. therefore, we aim to compare established methods of assessing right heart function with 3-dimensional echocardiographic reconstruction of the ventricle, using a novel reconstruction mechanism. right ventricular function will be assessed in 51 patients who undergo pulmonary endarterectomy surgery at baseline, after the pericardium has been opened, following the surgical procedure, using transoesophageal echocardiography, and at six-month outpatient followup using transthoracic echocardiography, as 3d-reconstruction is valid using both modalities. this comparison should allow the investigators to determine whether such a method could replace current measurement parameters for assessment of right ventricular function, which is important for clinical management of patients in a variety of settings.


Eligibility criteria:
inclusion criteria: * adult patients * undergoing pulmonary endarterectomy surgery at papworth hospital * willing to provide informed consent exclusion criteria: * patient refusal * contraindication to transoesophageal echocardiography * technical difficulty preventing adequate echocardiographic assessment of right heart function

Keywords: echocardiography
effect of depressin screening and care program at community health center

Conditions: Depression; Screening; Elderly

Summary: depression affect between 5% and 10% of older adults seen in the primary care setting.late-life depression is often chronic or recurrent and is associated with substantial suffering, functional impairment, and diminished health-related quality of life.depressed, older primary care patients are frequent users of general medical services and may have poor adherence to medical treatments.they are also at increased risk of death from suicide and medical illnesses. the aim of this study is to examine whether depression screening and health care practitioner feedback are increased depression treatment rate. depression screening is provided 60 or more who visited community health care center with a 15-item geriatric depression scale.gds scores of 10 or more were classified depression positive. intervention group participants received twice remind calls from primary care nurse.


Eligibility criteria:
inclusion criteria: * 60 or more * 10 or more in gds scor exclusion criteria: * severe cognitive problem
functional and clinical impact of cyp3a genetic polymorphisms on statin therapy

Conditions: Patients With High Cholesterol Levels Needing a Lipid-lowering Therapy

Summary: patients needing lipid lowering therapy will be recruited before initiation of the treatment. for each patient, total and ldl cholesterol levels before start of therapy will be measured. one, three and six months after his/her first visit, when steady-state will be reached, for each included patient, the cholesterol levels will be re-assessed in order to evaluate the response to statin therapy calculated as the amplitude of cholesterol reduction. the aim is to assess the association between patient's genotype and the response to statin therapy.


Eligibility criteria:
inclusion criteria: * patient known to be compliant * age \[25-80\] * treated with atorvastatin, simvastatin, fluvastatin. exclusion criteria: * pregnancy
rx for better breast health

Conditions: Breast Cancer

Summary: this randomized controlled trial will test the impact of a patient-navigated, anti-inflammatory, culinary-based intervention (reinforced by motivational interviewing \[mi\] and tailored newsletters) on obese (body mass index \[bmi\] 30+), early-stage (0-iiia) breast cancer survivors compared to a control group.

the investigators will recruit english-speaking, early-stage breast cancer survivors (n=200) to a two-arm randomized controlled trial (rct) involving a 2 (group) by 3 (time) repeated measures design. the intervention will stimulate dietary behavior changes using individualized anti-inflammatory dietary prescriptions with six monthly workshops (culinary demonstrations, recipes and meal planning) and behavior change cures reinforced through evidence- and theory-based patient navigation, motivational interviewing, and tailored newsletters personalized to individual readiness for change. control participants will receive minimal nutritional information at baseline, monthly american cancer society survivorship brochures, and two telephone calls prior to assessment appointments. groups will be compared at baseline and 6- and 12-month follow-up. dependent measures will include dietary behavior and levels of cancer-associated biomarkers.

Eligibility criteria:
inclusion criteria: * females 18 years or older * primary diagnosis of breast cancer * fluency in english * b.m.i. \>= 30 * available for follow-up for 12 months exclusion criteria: * clinical evidence of metastatic disease * not diagnosed with primary breast cancer * lack fluency in english * b.m.i. \< 30