Kornimate/medical-research-clean huggingface dataset:
natural history study of patients with canavan disease (caninform study)

Conditions: Canavan Disease

Summary: this study uses medical records that allow retrospective data extraction of critical milestone and motor function data. in addition, prospective assessments collect data relevant to the natural history of canavan disease in children.

the caninform natural history study is the first multinational effort to rigorously gather both retrospective and prospective data from this patient population. data collection includes extraction of retrospective data from medical records of living and deceased patients, and collection of prospective, longitudinal data from living patients and their parent(s)/caregiver(s). motor function assessments are performed remotely in the home via video or in the clinic by qualified study team members. families will be invited to attend clinic visits and/or will be followed remotely by the clinical site for approximately 3 years.

Eligibility criteria:
inclusion criteria: 1. meet age criteria of a specific cohort. 2. confirmed clinical and biochemical diagnosis of canavan disease. 3. available medical records since birth that permit documentation of disease characteristics and developmental milestones. 4. parent and/or legal guardian is able to read, understand, and sign the informed consent. exclusion criteria: 1. patient does not meet the inclusion criteria.

Keywords: canavan disease aav aav9 gene therapy aspartoacylase aspa aspa gene raav9 acy2 aminoacylase 2 spongy degeneration n-acetyl-l-aspartic acid (naa) n-acetylaspartate rare disease inherited metabolic disorders leukodystrophy leukoencephalopathies autosomal recessive disorder neurodevelopmental diseases caninform study
coagulation in cirrhosis

Conditions: Liver Cirrhosis

Summary: out of fear of bleeding, liver cirrhosis patients are often treated prophylactically with blood and coagulation products before minor interventions. the couch study will examine whether these patients benefit from a restrictive administration of coagulation products.

patients with cirrhosis commonly have deranged coagulation parameters, in particular thrombocytopenia and/or an increased inr. however, these laboratory findings do not necessarily correlate with an increased tendency of bleeding. in fact, the reduced synthesis of both pro- and anticoagulant factors often equates to a new equilibrium in the coagulation system. nevertheless, out of fear of bleeding, liver cirrhosis patients with deviated laboratory coagulation parameters are often aggressively treated with coagulation products (such as platelet concentrates and prothrombin complex concentrate (pcc)) before minor interventions and punctures. since these products can also have procoagulant side effects, we will investigate whether patients with liver cirrhosis without a history of bleeding or clinical bleeding signs benefit from a restrictive substitution regime. the study will be carried out monocentrically at the general hospital of vienna, and will include 400 patients divided into two groups (liberal vs. restrictive substitution of thrombocytes and/or pcc) over an est. period of 4 years.

Eligibility criteria:
inclusion criteria: patients at the university hospital of vienna with diagnosed liver cirrhosis and deranged coagulation parameters (inr \>1,5 and/ or platelet count \<50 g/l) who are scheduled for one of the following elective invasive interventions of the liver * biopsy or puncture * microwave ablation (mwa) or radiofrequency ablation (rfa) * transjugular intrahepatic portosystemic shunt (tips) * percutaneous transhepatic cholangiography drain (ptcd) exclusion criteria: * missing informed consent or inability to consent * age \< 18 years * pregnancy or breastfeeding * manifest ascites * chronic kidney injury stage g4 or g5, kdigo * uninterrupted anticoagulant therapy, except for acetylsalicylic acid (asa) * history of bleeding or clinical signs of a hemorrhagic diathesis in the physical examination (e.g., petechia, ecchymosis, mucosal bleeding, hemorrhagic diathesis within the family, menorrhagia, prolonged bleeding after surgery)

Keywords: patient blood management platelet concentrates transfusion coagulation
genes of hypertension in african americans

Conditions: Cardiovascular Diseases; Heart Diseases; Hypertension

Summary: to identify genes contributing to hypertension in african americans by focusing on the physiological pathways that determine arterial pressure.

background: since the mid 1990s, the investigators have extensively characterized african americans for phenotypes related to cardiovascular and renal function. based on recently completed genome scans, they have identified several chromosomal regions likely to contain genes influencing hypertension-related phenotypes in hypertensive, african american sib pairs. for several phenotypes, overlapping qtls have also been identified in related studies in a genetically isolated french canadian population and/or in homologous chromosomal regions in the f2 cross of dahl-salt sensitive x normotensive brown norway rats. design narrative: the investigators will extensively phenotype 500 hypertensive and 500 normotensive african american subjects to conduct a genetic association study, using a single nucleotide polymorphism (snp) genomic scan approach. to achieve a clear separation of blood pressures from hypertensive subjects, normotensive subjects will be selected from the lower third of the population-based blood pressure distribution. hypertensive (bmi), and age. inclusion of phenotypes is based on their relevance to the pathophysiology of hypertension and prior evidence of "heritability." candidate genes for snp analysis will be selected within chromosomal regions of two quantitative trait loci (qtls) that they have previously demonstrated to be linked to hypertension-related phenotypes--a qtl for body mass index on chromosome 1 and a qtl for microalbuminuria on chromosome 18. snp analyses will be carried out in 15 percent of the genes within each of these qtls, and genes will be selected on the basis of their relevance to hypertension, including documented sequence conservation for blood pressure related qtls with rat or mouse. the final goal of the project is to determine if distinct clusters of blood pressure related phenotypes can be identified that will permit stratification of hypertensive individuals into distinct subgroups to facilitate the analysis of the genetic determinants of hypertension and/or provide mechanistic leads to genes contributing to these traits.

Eligibility criteria:
african americans, age 18-75 years
comparison of subtotal stomach and narrow gastric tube after esophagectomy

Conditions: Esophageal Cancer

Summary: currently, both the subtotal stomach and narrow gastric tube approaches are widely used for esophagogastric anastomosis after esophagectomy. some stud- ies have concluded that the subtotal gastric conduit is superior to the wide gastric-tube approach, as it provides better protection of the submucosal vessels and can slightly increase gastric capacity. furthermore, blood perfusion significantly decreases after tubular gastric surgery.

stomach is the most common esophageal subtitute after a esophagectomy procedure, because it has a abundant blood supply and the need for only one anastomosis. however, cervical esophago-gastro anastomosis still has a high risk of complications, especially anastomosis leakage (11.9 - 25 % ). there are three types of gastric subtitute: whole stomach, subtotal stomach and narrow gastric tube. while whole stomach and subtotal stomach has an advantage in the submucosal vascular network, a narrow tube is excellent elasticity and the ease with which it can be pulled up into the neck without tension, that could affect leakage rate. on the other hand, after esophagectomy, nutrition status and quality of life (qol) had decreased due to effect of adjuvant therapy, lower quantity of food intake, gastro-esophageal reflux and other postoperative syndromes. several studies had shown the affect of the width of gastric tube to the postoperative nutrition and qol, however, the results were not homogenous. this study aims to compared two types of gastric subtitute after esophagectomy: subtotal stomach and narrow gastric tube

Eligibility criteria:
inclusion criteria: * pathologic finding by esophageal endoscopy: confirmed esophageal cancer. * indication for esophagectomy * age: 18 - 80 year old * tumor located at the middle or lower third of the esophagus * asa score: ≤ 3 * informed consent patients (explanation about our clinical trials is provided to the patients or patrons, if patient is not available) exclusion criteria: * concurrent cancer or patient who was treated due to other cancer before the patient was diagnosed esophageal cancer * pregnant patient * using colon or intesinal conduit

Keywords: subtotal stomach narrow gastric tube anastomosis
a study in adults and adolescents with angelman syndrome (stars)

Conditions: Angelman Syndrome

Summary: the purpose of the study is to assess the safety and tolerability of oral ov101 (gaboxadol) in adult and adolescent subjects with angelman syndrome. in addition, several exploratory efficacy outcome measures will be investigated.

two dosing schedules of ov101 (gaboxadol) giving as once daily or twice daily dose will be assessed against placebo.

Eligibility criteria:
inclusion criteria 1. age 13- 49 years 2. diagnosis of angelman syndrome 3. receiving a stable regimen of concomitant medications for at least 4 weeks prior to baseline, and able to maintain these throughout the duration of the study 4. has a caregiver capable of providing informed consent on behalf of the subject and able to attend scheduled study visits 5. able to ingest study medication 6. caregivers must agree not to post any subject or study information on social media exclusion criteria 1. unable to perform the study related safety and exploratory efficacy assessments, such as motor function 2. poorly controlled seizure activity 3. concomitant cardiovascular, respiratory, liver, renal, or hematologic diseases of a degree that would limit participation in the study 4. pregnancy or women of child-bearing potential who are not using and acceptable method of contraception 5. concomitant use of minocycline, levodopa, zolpidem, zaleplon, eszopiclone, ramelteon, and cannabinoid derivatives, or any other use of any investigational agent, device, and/or investigational procedure 4 weeks prior to baseline and during the study 6. allergy to ov101 or any excipients 7. at increased risk of harming self and/or others based on investigator assessment 8. any condition or reason that in the opinion of the investigator makes the subject unsuitable for enrollment 9. inability of subject or caregiver to comply with study requirements other protocol-defined inclusion/exclusion criteria may apply.
efficacy of naso-esophageal tube feeding in patients with high cervical spinal cord injury.

Conditions: Spinal Cord Injury Cervical

Summary: the goal of this clinical trial is to compare the differences in pneumonia situation and nutritional status between patients with high cervical spinal cord injury using naso-esophageal tube feeding and nasogastric tube. patients will be randomly divided into an observation group and a control group, all receiving routine rehabilitation treatment. on this basis, the observation group will use naso-esophageal tube feeding for enteral nutrition support, while the control group will use nasogastric tube. researchers will compare changes in pneumonia situation and nutritional status of two groups of patients before and after the study to see if naso-esophageal tube feeding can improve the pneumonia situation and nutritional status between patients with high cervical spinal cord injury

naso-esophageal tube feeding is a medical procedure utilized to provide nutrition directly into the esophagus via a tube inserted through the nose. this method is employed when individuals cannot consume food orally due to various medical conditions, such as dysphagia (difficulty swallowing), neurological disorders, or conditions affecting the upper gastrointestinal tract. the goal of this clinical trial is to compare the differences in pneumonia situation and nutritional status between patients with high cervical spinal cord injury using naso-esophageal tube feeding and nasogastric tube. patients will be randomly divided into an observation group and a control group, all receiving routine rehabilitation treatment. on this basis, the observation group will use naso-esophageal tube feeding for enteral nutrition support, while the control group will use nasogastric tube. researchers will compare changes in pneumonia situation and nutritional status of two groups of patients before and after the study to see if naso-esophageal tube feeding can improve the pneumonia situation and nutritional status between patients with high cervical spinal cord injury

Eligibility criteria:
inclusion criteria: * high cervical spinal cord injury. * any degree of dysphagia at admission; * steady vital signs, without severe cognitive impairment or sensory aphasia, able to cooperate with the assessment. exclusion criteria: * damaged mucosa or incomplete structure in nasopharynx; * unfeasible to the support of parenteral nutrition; * simultaneously suffering from liver, kidney failure, tumors, or hematological diseases.
weight loss as treatment in heart disease

Conditions: Heart Failure

Summary: 30 obese moderate-to-severe heart failure patients will be randomized to intervention or control in groups of 5-10 subjects. all will receive dietetic advice according to randomization and according to the european heart association. intervention subjects will initiate with 8 weeks low energy diet, 800-1000 kcal/d by formula diet and subsequent four weeks reintroduction to regular foods supplying 1200 kcal/d substituting two daily meals with formula meal replacement. control subjects are advised to follow the nordic nutrition recommendations. patients will be monitored by blood sampling and assessed by change in physical performance.


Eligibility criteria:
inclusion criteria: * bmi \>30 * heart failure, moderate to severe, new york heart association ii og iii * stable disease * age \>18 years * out-patients * perform a six minutes walk test * given consent exclusion criteria: * unstable disease * insulin treated diabetes * pregnancy or lactating * unstable weight past 6 months (+- 10 kg) * planned procedures in the time of intervention

Keywords: intention weight loss heart failure 6-minute walk test
treatment of distal radius buckle fractures

Conditions: Fracture Treatment

Summary: this study determines if patients with buckle fractures of the distal radius and/or ulna treated with supportive care only demonstrate non-inferior outcomes in regard to pain control during healing, functional outcome at the wrist joint, and parental satisfaction, when compared with patients treated with the standard treatment regimen of 3-4 weeks in a short arm cast.


Eligibility criteria:
inclusion criteria: children age 1-17 with buckle fractures of the distal radius and/or ulna. - exclusion criteria: * patients are excluded if there is any other injury to the upper limb or serious bodily trauma that might complicate pain scores. children with suspected or proven metabolic bone disease, or pathologic fractures are excluded due to resultant abnormal bone healing.
prospective health assessment of cataract patients' ocular surface

Conditions: Dry Eye

Summary: this study will determine the incidence and severity of dry eye in patients undergoing cataract surgery as determined by grade on the international task force (itf) scale.


Eligibility criteria:
inclusion criteria: * patients should be at least 55 years old. * patients must be scheduled to undergo cataract surgery. exclusion criteria: * no previous intraocular surgery in the previous 3 months in either eye. * no previous corneal laser vision correction in either eye within the last one year. * no previous lid surgery within the past 3 months. * patients may not have used topical antibiotics, topical nsaids or topical steroid in either eye in the past month. * patients are not eligible if they have recently been started on restasis solely as a perioperative treatment regimen. * patients presently using restasis in either eye will not undergo any of the study testing but a questionnaire should be completed for these patients regarding use of these medications.

Keywords: dry eye incidence and severity cataract surgery
obstetric outcomes of primigravidae

Conditions: Primigravida Labour

Summary: to determine obstetric outcomes in primigravida at term at women's health centre

a primigravida is a woman carrying her first pregnancy(.1)a woman carrying her first pregnancy is starting a new life and it is a crucial time in her obstetric career as subsequent obstetric performance will depend on how well the first pregnancy was managed.(2).pregnancy in a primigravida is often viewed with anxiety not only by the patient who is going through the experience for the first time but also her relatives and her caregiver. the obstetric outcome of primigravidae is associated with many complications; therefore, they are considered high risk because of both maternal and fetal concerns(.2).numerous studies have shown that primigravidae are at increased risk of complications during pregnancy, labor, and delivery and if not properly managed, these complications can result in increased morbidity and mortality for both the mother and baby(3) reported complications include abnormal labor patterns, increased risk of operative deliveries, increased rate of admissions into neonatal intensive care unit and increased perinatal deaths.(4,5,6) the cardinal observation to be made in a gravid uterus at term in labor is engagement of head which is the initial step in the mechanism of labor. the term "engagement" in normal labor denotes that the greatest diameter of fetal head has passed through the brim of the pelvis.(7) engaged head in a primigravida at term in early labor is a sign of pelvic adequacy.unengaged head at the onset of labor is associated with increase in duration of labor and incidence of dysfunctional labor pattern.(8,9) thus, undue prolongation of labor leads to increased risk of caesarean section(10,11) and its associated maternal and perinatal morbidity and mortality. the adequacy of the pelvis, the efficacy of uterine contractions, the capacity of fetal head to mold and the temperamental resilience of the patient contribute more to the outcome of labor. hence, the dynamics of labor is equally important with mechanics as it improves the adaptation of fetal head to the pelvic cavity and its passage through it supported by primary and secondary forces of labor. careful monitoring of progress of labor and timely medical intervention in these cases can reduce the incidence of caesarean deliveries. (11)this study will, therefore, assess the obstetric outcome of vaginal delivery of these women at term considering course \& duration of labour \& the incidence of complication with its associated fetomaternal outcomes

Eligibility criteria:
inclusion criteria: * primigravida with singleton live fetus * cephalic presentation * delivered at term with gestational age(37 -41 weeks) exclusion criteria: * multiparous women * multiple gestation * intra uterine fetal death th (iufd) * medical condition as preclampsia * polyhydramnios and fetal anomalies * malpresentation (e.g., breech, face).

Keywords: primigravidae
pre-operative chemotherapy in operable breast cancer, phase iii study comparing a short intensive pre-operative chemotherapy with the same therapy initiated shortly after surgery(peri-operatively)(pocob)eortc 10902)

Conditions: Breast Cancer

Summary: pre-operative chemotherapy in operable breast cancer, phase iii study comparing a short intensive pre-operative chemotherapy with the same therapy initiated shortly after surgery (peri-operatively) (pocob) (eortc 10902)


Eligibility criteria:
inclusion criteria: disease characteristics: * palpable, operable breast cancer that has been diagnosed by core needle biopsy (mandatory for t1c tumors) or fine needle aspiration within 21 days prior to entry * stage t1c-4b, n0-1, m0 hormone receptor status: * not specified * no bilateral breast cancer prior/concurrent therapy: * no previous treatment for breast cancer biologic therapy: * not specified chemotherapy: * no previous chemotherapy endocrine therapy: * not specified radiotherapy: * not specified surgery: * core needle biopsy or fine needle aspiration within 21 days prior to entry * repeated core needle biopsy permitted patient characteristics: age: * 16 to 70 sex: * women only menopausal status: * not specified performance status: * who 0-2 hematopoietic: * wbc at least 4,000 * platelets at least 100,000 hepatic: * bilirubin no greater than 2.8 mg/dl (50 micromoles/l) renal: * creatinine no greater than 1.3 mg/dl (120 micromoles/l) cardiovascular: * no congestive heart failure * no significant arrhythmia * no bilateral bundle branch block * no recent myocardial infarction * no uncontrolled hypertension (diastolic pressure greater than 110 mm hg) other: * no male breast cancer * no pregnant or nursing women * no second malignancy except adequately treated: * nonmelanomatous skin cancer * cervical cancer
mechanistic studies on video-guided acupuncture imagery treatment of knee pain

Conditions: Osteoarthritis, Knee

Summary: the aim of this study is to investigate brain response and connectivity changes evoked by video-guided acupuncture imagery treatment (vgait) and verum and sham acupuncture in knee osteoarthritis patients to elucidate the underlying brain mechanisms of mind-body interaction, imagery, and acupuncture.


Eligibility criteria:
inclusion criteria: * right-handed * knee osteoarthritis patients * ages 40 to 70 years old exclusion criteria: * any contraindications to mri scanning (claustrophobia, metal implants) * current or past history of major medical, neurological, or psychiatric illness other than knee osteoarthritis (including high blood pressure, heart disorders, impaired elimination, stomach problems, major kidney or liver problems, bleeding problems, severe dehydration, history of diabetes, history of asthma or other respiratory condition) * pregnancy * non fluent english speaker

Keywords: fmri acupuncture osteoarthritis