Kornimate/medical-research-clean huggingface dataset:
mutation analysis of 17α-hydroxylase

Conditions: Pseudohermaphroditism; Congenital Adrenal Hyperplasia; Hypertension

Summary: to elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.

17α-hydroxylase is a rare form of congenital adrenal hyperplasia. patients with complete 17α-hydroxylase deficiency may come to attention to the doctor at their early adulthood due to hypertension or disordered puberty. 17α-hydroxylase is a form of cytochrome p450 enzyme in the adrenal cortex for the production of cortisol, while 17,20-lyase is required in both adrenal glands and the gonads for the production of androgen precursors of sex hormones. therefore, patients with 17α-hydroxylase will presented with elevated deoxycorticosterone (doc) level and decreased aldosterone and cortisol level. because doc is the second most important naturally occurring mineralocorticoid hormone, hypertension and hypokalemic alkalosis will be noted in these patients. besides, deficiency of 17,20-lyase activity will lead to impairment of virilization in 46 xy patients and deficient estrogen production in 46 xx patients. the p450c17 has both 17α-hydroxylase and 17,20-lyase activity and are encoded by the cyp17 gene. the sequence of cyp17 gene was established in 1987 and more than 40 mutations were identified till now. the purpose of this study is to elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.

Eligibility criteria:
inclusion criteria: * patients with 17α-hydroxylase deficiency and their family exclusion criteria: -
brain training for substance use disorders

Conditions: Opioid Use Disorder

Summary: participants play games designed to train visual attention towards natural, non-drug-related scenarios. a biofeedback loop between gameplay and an electroencephalogram (eeg) system monitors game performance and guides game difficulty.

the main purpose of this project is to gather pilot data on neurofeedback games that use electroencephalogram (eeg)-based attention bias modification (abm) to reduce cue-induced drug craving processes in individuals with opioid use disorder (oud). the project will involve the use of three empirically-supported and potentially therapeutic games that include drug- (such as pill bottle and syringe) and non-drug-related stimuli (such as food and smiling faces). an eeg system will be used to monitor brain activity during gameplay. the neurofeedback loop for attention training will be synchronized to cue presentations using eegs which monitor visual event-related potentials (erp) signatures of attention. the degree of difficulty (i.e., cue content) on subsequent trials of the game will be determined based on the level of attention measured in the neurofeedback loop.

Eligibility criteria:
inclusion criteria: oud patient participants: * admitted into chemical treatment with opioid use being a reason for treatment; * dsm-iv-tr diagnosis of oud; * ability to provide informed consent; * a minimum of a 6th grade reading level; and * able and willing to provide own contact information for follow-up visit(s). control participants: * age- and gender-matched to an oud patient participant in the study; * ability to provide informed consent; * a minimum of a 6th grade reading level; * able and willing to provide own contact information for follow-up visit(s). exclusion criteria: oud patient participants: * refusal or inability to consent; * pregnant; * history of serious neurological illness (e.g., chronic seizure disorder, wernicke-korsakoff syndrome, epilepsy, any history of seizures not caused by withdrawal from substances, other \[please specify\]); * inability to see text and photos clearly on the computer display; and * unwillingness to change hairstyle (e.g., braids, pony tails, dreadlocks) or remove wig to accommodate application of the eeg headset, if necessary. control participants: * refusal or inability to consent; * pregnant; * history of serious neurological illness (e.g., chronic seizure disorder, wernicke-korsakoff syndrome, epilepsy, any history of seizures, other \[please specify\]); * inability to see text and photos clearly on the computer display; * current or previous problems using opioids, other prescription (prescribed or not prescribed) or illicit drugs; * regular nicotine user (e.g., cigarette smoker, e-cig user) within the past 12 months; and * unwillingness to change hairstyle (e.g., braids, pony tails, dreadlocks) or remove wig to accommodate application of the eeg headset, if necessary.

Keywords: biofeedback neurofeedback electroencephalogram addiction substance use disorder opioid use disorder attention emotion regulation event-related potential
topical ruxolitinib evaluation in chronic hand eczema study 2

Conditions: Chronic Hand Eczema (CHE)

Summary: the purpose of this study is to evaluate the efficacy and safety of ruxolitinib cream in adult participants with diagnosis of chronic hand eczema (che) and moderate to severe disease activity (investigator's global assessement (iga) of che score 3 or 4).


Eligibility criteria:
inclusion criteria: * diagnosis of chromic hand eczema (che) as defined by hand eczema (he) lasting \> 3 months or ≥ 2 flares within the previous 12 months. * screening and baseline iga-che 3 or 4. * baseline che-related itch nrs ≥ 4. * recent history (within the past 1 year of baseline) of inadequate response to treatment with topical corticosteroids (tcs), topical calcineurin inhibitors (tci), or oral alitretinoin; or intolerance or contraindication to tcs or tci or oral alitretinoin. * willingness to avoid pregnancy or fathering children based on the criteria below. exclusion criteria: * known triggers for che (allergic or irritant, such as those identified by previous patch tests) cannot be avoided during the course of this study. * participants who have an unstable course of ad (spontaneously improving or rapidly deteriorating) as determined by the investigator in the 4 weeks prior to baseline. * participants with concurrent conditions and history of other diseases such as other active skin disease or infection on the hands; immunocompromised; chronic or acute infection requiring systemic treatments; active acute skin infection; other concomitant skin conditions that may interfere with study assessments or compromise participant safety; other types of eczema; chronic asthma requiring high dose of inhaled corticosteroids; current or history of hepatitis b or c virus infection. * any serious illness or medical, physical, or psychiatric condition(s) that, in the investigator's opinion, would interfere with full participation in the study, including administration of study drug and attending required study visits; pose a significant risk to the participant; or interfere with interpretation of study data. * laboratory values outside of the protocol-defined criteria. * use of protocol-defined treatments within the indicated washout period before baseline. * psoralen ultraviolet a (puva) or ultraviolet b (uvb) therapy on the hands within 4 weeks before baseline. * pregnant or lactating participants, or those considering pregnancy during the period of their study participation. * further exclusion criteria apply.

Keywords: eczema hand eczema dermatitis skin disease jak inhibitor
risk of acute kidney injury in living liver donor surgery

Conditions: Acute Kidney Injury; Liver Transplant; Complications; Fluid and Electrolyte Imbalance

Summary: acute kidney injury (aki) is one of the most common complication after restricted fluid therapy for major surgery. the aim of this study is to evaluate the incidence of aki as defined by kidney disease improving global outcomes (kdigo) criteria in living liver donor hepatectomy in which applied intraoperative protocolized fluid restriction targeting a low central venous pressure (cvp) level and high pulse pressure variation (ppv) / systolic pressure variation (spv).

operative blood loss and need for transfusion are risk factors associated with mortality after partial hepatectomy. the low central venous pressure (cvp) anesthetic technique has been strongly advocated to minimize hepatic venous bleeding during hepatectomy. low cvp technique for living donor hepatectomy may not be advantageous regarding the safety of healthy living donors. safer, simpler, and more useful fluid management methods are, therefore, required to reduce blood loss and subsequent morbidity during living donor hepatectomy. pulse pressure variation (ppv) and systolic pressure variation (spv) are the dynamic parameters of hemodynamic used to access the volume status and fluid responsiveness in mechanically ventilated patients. based only on the serum creatinine increase, aki occurs in 5-15% of hepatectomy patients.in this study, we aimed to evaluate the incidence of aki based on the change of serum creatinine levels in living liver donor hepatectomy regarding intraoperative fluid restriction targeting low cvp levels and high ppv and spv depending on our protocolized fluid management. 130 living liver donors were admitted for a retrospective observational study. the low central venous pressure (\<5 mmhg) and high pulse pressure variation (ppv\<20%) / systolic pressure variation (spv\<15%) were applied to reduce intraoperative blood loss as fluid management until the end of the hepatic parenchymal division. aki was defined using the kdigo criteria according to the serum creatinine. the spss 11.5 program was used for statistical analysis.

Eligibility criteria:
inclusion criteria: * patients who underwent living liver donor hepatectomy exclusion criteria: -

Keywords: living donors acute kidney injury central venous pressure hemodynamic monitoring fluid therapy
an extension study of iron chelation therapy with deferasirox (icl670) in β-thalassemia patients with transfusional iron overload

Conditions: Transfusional Iron Overload in β-thalassemia

Summary: a 1-year randomized phase iii core trial (nct00061750) using deferoxamine as the comparator was conducted to investigate the efficacy of deferasirox in regularly transfused patients with β-thalassemia 2 years of age and older. patients who successfully completed this main trial may continue in this extension trial to receive chelation therapy with deferasirox for an additional 4 years. the objective of this study is to assess the efficacy and long-term safety of deferasirox in regularly transfused patients with β-thalassemia 2 years of age and older.


Eligibility criteria:
inclusion criteria * patients who completed the 12-month core study (nct00061750) * female patients after menarche and who were sexually active, if they used double-barrier contraception, oral contraceptive plus barrier contraceptive, or had undergone clinically documented total hysterectomy and/or ovariectomy, or tubal ligation * written informed consent obtained from the patient and/or legal guardian on the patient's behalf in accordance with the national legislation exclusion criteria * pregnant or breast feeding patients * patients with a history of non-compliance to medical regimens or those considered to be potentially unreliable

Keywords: β-thalassemia iron overload deferasirox
central venous to arterial co2 difference and low cardiac output syndrome related outcomes in children after cardiac surgery

Conditions: Congenital Heart Disease; Perioperative/Postoperative Complications; Lactate Blood Increase

Summary: the goal of this clinical trial is to compare the capability of 3 different bedside surrogates in children who underwent cardiac surgery and were admitted in intensive care unit. these test are lactate, oxygen saturation from central venous and the carbon dioxide gap between central venous and arterial. the main questions is which one is the best prognostication for post operation poor outcomes participants will be taken routine blood test for post cardiac care (at icu arrival, 6, 12, and 24 hour post operation) and follow the their outcomes. there is no any intervention or drug in this research


Eligibility criteria:
inclusion criteria: * children aged 0-18 years old with either congenital or acquired cardiac disease * undergone cardiopulmonary bypass for cardiac surgery * be admitted in picu for post-operative care exclusion criteria: * preterm infant (ga \< 37 weeks) or weight less than 2 kg * patient who weaned off cardiopulmoanry bypass and required extracorporeal membrane oxygenator (ecmo) before leaving the operating room * patient who required emergency cardiac operation within 24 hour after hospitalization * patient who had significant residual left side outflow tract obstruction (e.g., coarctation of aorta, interrupted aortic arch) which defined by difference of sbp between upper and lower extremities more than 10 mmhg * patient who had already participated in another research project * patient who does not have both arterial line and central line catheter back from operating room * parents or legal guardian refuse to inform consent.
lifestyle intervention of food and exercise for lymphoma survivors

Conditions: Non Hodgkin Lymphoma; Hodgkin Lymphoma

Summary: the purpose of this study is to investigate if a mediterranean diet and exercise program for lymphoma patients during chemotherapy can improve treatment completion and reduce treatment-related side effects.


Eligibility criteria:
inclusion criteria: 1. 18 years of age or older 2. any sex/gender 3. able to provide consent 4. able to read or understand english or spanish 5. diagnosis of untreated non-hodgkin or hodgkin lymphoma, requiring at least 6 cycles of chemotherapy, being treated with one of the following therapies at discretion of pis: 1. r-chop or r-chop-like regimen 2. br 3. bv-avd or abvd or checkpoint inhibitor+avd 6. ecog performance status grade of \<2 a. pi approval needed if ecog = 2 7. approval from treating oncologist, confirmed via email or in writing 8. delivery of chemotherapy treatments at one of the following institutions: 1. sylvester comprehensive cancer center (including satellite/network sites) 2. university of miami hospital/uhealth tower 9. internet access on a smart phone, tablet, or computer 10. willing to be randomized to a mediterranean diet/home-based physical activity intervention or waitlist-control group. exclusion criteria: 1. individuals younger than 18 years of age 2. unable to provide consent 3. unable to read or understand english or spanish 4. any contraindication for diet change or exercising as determined by physician 5. currently following a vegan or ketogenic diet, or consuming more than 5 servings of fruit and vegetables per day for the prior month 6. engaging in \>150 minutes of moderate to vigorous physical activity on average per week for the prior month 7. history of dementia or major psychiatric disease 8. history of recent (≤1 yr) stroke, myocardial infarction or congestive heart failure

Keywords: mediterranean diet exercise program
study to determine the safety and efficacy of rfixfc in previously untreated males with severe hemophilia b

Conditions: Hemophilia B

Summary: the primary objective of the study was to evaluate the safety of recombinant coagulation factor ix fc fusion protein (rfixfc, biib029) in previously untreated patients (pups) with severe hemophilia b. secondary objectives were to evaluate the efficacy of rfixfc in the prevention and treatment of bleeding episodes in pups, and to evaluate rfixfc consumption for prevention and treatment of bleeding episodes in pups.


Eligibility criteria:
key inclusion criteria: * weight \>=3.5 kilogram at the time of informed consent. * severe hemophilia b was defined as less than or equal to (\<=)2 international units per deciliter (iu/dl) (\<=2 percent \[%\]) endogenous fix documented in the medical record or as tested during the screening period. key exclusion criteria: * history of positive inhibitor testing. a prior history of inhibitors was defined based on a participant's historical positive inhibitor test using the local laboratory bethesda value for a positive inhibitor test (that is equal to or above lower limit of detection). * history of hypersensitivity reactions associated with any rfixfc administration. * exposure to blood components or injection with a coagulation factor ix (fix) concentrate (including plasma derived) other than rfixfc. * injection with commercially available rfixfc more than 28 days prior to screening. * more than 3 injections of commercially available rfixfc prior to confirmation of eligibility. * other coagulation disorders in addition to hemophilia b. * any concurrent clinically significant major disease that, in the opinion of the investigator, would have made the participant unsuitable for enrollment (example hiv infection with cluster of differentiation 4 (cd4) lymphocyte count less than (\ )200 particles/mcl, or any other known congenital or acquired immunodeficiency). * current systemic treatment with chemotherapy and/or other immunosuppressant drugs. use of steroids for treatment of asthma or management of acute allergic episodes or otherwise life-threatening episodes was allowed. treatment in these circumstances should not have exceeded a 14-day duration. * participation within the past 30 days in any other clinical study involving investigational treatment. * current enrollment in any other clinical study involving investigational treatment. * inability to comply with study requirements. * other unspecified reasons that, in the opinion of the investigator or bioverativ, would have made the participant unsuitable for enrollment. note: other protocol-defined inclusion/exclusion criteria may apply.

Keywords: prophylaxis treatment episodic treatment
evaluation of genexpert hiv-1 as the gold standard test for hiv-1 viral load count

Conditions: HIV

Summary: this is a cohort study on hiv-1 patients treated in outpatient and inpatient wards of tangerang district hospital. the participant will be interviewed and retrieved for their demographics, treatment history, cd4 and viral load history. blood will be drawn for hiv-1 viral load examination using xpert® hiv-1 viral load \[cepheid\], in-house qrt-pcr, and realtime hiv-1 viral load \[abbott\]

participant candidate will be screened at tangerang district hospital's outpatient and inpatient units. the purpose is to get various vl values from participants with various clinical conditions (light-heavy). if a participant is willing to participate and has signed the informed consent form (icf), he/she will be interviewed for demographic data and case history (age, gender, first hiv diagnosis). after that, the participant will be physically examined (height, weight, and vital signs). other information, such as current hiv clinical stage, current art regimen, viral load value (final and highest), and cd4 (final and lowest) are collected from participant's medical records. the participant's blood will be drawn as much as 9 ml and will be processed to obtain plasma. plasma will be aliquoted into 3 vials for vl test using 3 devices: 1 ml using xpert hiv-1, 1 ml using pcr (abbott) at dharmais hospital, and 1 ml or leftover plasma using pcr (abi7500) at ina-respond's reference laboratory. the process follows the manufacturer's manual or the standard of sample preparation procedure and the operation of the devices at each hospital. the result of viral load measurement will be informed to the participant via the attending physician during the participant's routine hiv treatment visit to the hospital.

Eligibility criteria:
inclusion criteria: * hiv positive patient by the hiv diagnoses guideline in the tangerang district hospital. * patient older than 18 years and above. * willing and signed the informed consent (icf). * willing to comply with the study procedures. exclusion criteria: * suffered from a disease or having condition that could complicated the blood drawing process or increasing the risk of disease complications. * currently imprisoned.
higher protein diet and exercise for optimal weight loss in elderly women

Conditions: Bone and Body Composition; Obesity; Metabolic Syndrome; Physical Function; Quality of Life

Summary: the broad aim is to determine efficacy of a weight loss diet higher in protein and lower in carbohydrate combined with low intensity exercise to favorably impact body composition, bone health, physical function, metabolic disease and quality of life compared to a conventional higher carbohydrate diet in overweight women over age 60.


Eligibility criteria:
inclusion criteria: * body mass index \> 28 kg/m² * clearance of primary physician to participate in diet and mild exercise exclusion criteria: * medical condition contraindicating prescribed diet and exercise regimen * type 2 diabetes mellitus * physically active lifestyle (\>30 min moderate physical activity 2+ times weekly)
self-defining memories in patients with a tbi

Conditions: Traumatic Brain Injuries; Neurobehavioral Manifestations; Cognition Disorders; Memory Deficits

Summary: the study will be conducted over 18 months. the main objective of this study is to explore the relationships between autobiographical memory and specific cognitive measures, as well as emotional and behavioural measures in patients who have suffered a moderate to severe tbi. secondary objectives are to assess the psychometric properties of a self-defining memories questionnaire and to characterize autobiographical memory in the tbi population.

a total of 40 participants (20 non-consecutive adults with a moderate or severe tbi and 20 volunteers with any history of neurological or psychiatric disease) will be recruited into the study. the duration of the protocol is 70 minutes. as regards the assessment, three questionnaires will be administered in order to evaluate self-defining memories, apathetic manifestations and anxio-depressive symptoms. in addition, four cognitive measures will be used to assess verbal episodic memory, working memory, cognitive flexibility and verbal fluency.

Eligibility criteria:
inclusion criteria: * patients with a moderate or severe tbi occurred at least 6 months ago (initial glasgow coma scale score ≤ 12 or post-traumatic amnesia duration \> 1 week) * patients ≥ 18 years old and who have signed a letter of information exclusion criteria: * history of neurological and/or psychiatric disease * persistent motor, sensitive and instrumental disorders that could disturb the efficient evaluation of the participant * patients who refused to participate in the study * non affiliation to a social security scheme * patients under guardianship or trusteeship * pregnant woman
resectability of pancreatic head cancer by contrast-enhanced mdct:a multi-center study

Conditions: Adenocarcinoma of Head of Pancreas

Summary: the purpose of this multicenter and double-blind clinical trial is to prospectively assess the sensitivity, specificity, negative predictive value, positive predictive value, and accuracy in respectability of pancreatic head cancer with contrasted-enhanced mdct and its various post processing techniques, taking operational and pathological records as the gold standard.


Eligibility criteria:
inclusion criteria: * patients with (or suspected) pancreatic head cancer * being examined by contrasted-enhanced mdct * receiving surgical treatment (including palliative surgery) in all research centers exclusion criteria: * patients having (or suspected) pregnancy or breast-feeding * patients having allergic reactions to iodinated contrast agents or hypersensitivity reactions to allergens(including drugs) * patients receiving ercp before contrasted-enhanced mdct examination * patients without surgery because of a high degree of surgical risk

Keywords: computed tomography contrast enhancement pancreas cancer resectability