Kornimate/medical-research-clean huggingface dataset:
gene function in bone marrow cells from patients with fanconi anemia and from healthy participants

Conditions: Fanconi Anemia

Summary: rationale: studying samples of bone marrow from patients with fanconi anemia and from healthy participants in the laboratory may help doctors learn more about changes that occur in dna and identify biomarkers related to fanconi anemia. purpose: this laboratory study is evaluating gene function in bone marrow cells from patients with fanconi anemia and from healthy participants.

objectives: * describe the complete hematopoietic transcriptomes of fanconi cells of every common complementation group (e.g., a, c, g, and f) as well as transcriptomes of neoplastic cells derived from bone marrow of patients with fanconi anemia. * define large-scale dynamic gene expression data in these patients. outline: this is a multicenter study. patients and healthy volunteers undergo bone marrow aspiration or biopsy for biological studies. samples are analyzed for gene expression profiles using microarray assays. projected accrual: a total of 80 patients and 10 healthy volunteers will be accrued for this study.

Eligibility criteria:
disease characteristics: * meets 1 of the following criteria: * diagnosis of fanconi anemia * requires bone marrow aspiration or biopsy for clinical purposes * healthy volunteer * over 18 years of age * no known blood abnormality patient characteristics: * platelet count \> 150,000/mm\^3 * white blood cell(wbc) \> 4,000/mm\^3 * hemoglobin \> 13 g/dl * no clinical signs or symptoms of acute or subacute infection (e.g., viral, bacterial, or fungal) * no allergies to lidocaine or xylocaine prior concurrent therapy: * not specified

Keywords: fanconi anemia
the spectrum and profile of covid-19 infection and its impact on liver.

Conditions: Liver Cirrhoses

Summary: to address the existing deficiencies in the knowledge regarding liver involvement and spectrum of clinical presentation and the impact of covid-19 infection in patients of liver disease was planned. the present study will be a hospital based and the cases of confirmed covid-19 infection will be evaluated in relation to liver involvement irrespective of pre-existing liver disease. the primary objective was to address the clinical presentation, biochemical alteration and outcomes of covid-19 infection in subjects with chronic hepatitis, cirrhosis in comparison to those having infection in the absence of pre-existing liver disease


Eligibility criteria:
inclusion criteria: 1. all patients of covid-19 positive 2. age 18-70 years exclusion criteria: 1. no valid consent
predictive factors of intestinal infraction in acute mesenteric ischemia

Conditions: Mesenteric Ischemia

Summary: the study aims to identify several factors that can accurately predict the incident of intestinal infraction in patients with mesenteric vascular occlusion or ischemia.

the study aims to identify several clinical, laboratory, and radiologic factors that can accurately predict the occurrence of intestinal infraction in patients with mesenteric vascular occlusion or ischemia in order to prevent unnecessary surgical intervention in patients with just intestinal ischemia and to hasten intervention in patients with actual intestinal gangrene.

Eligibility criteria:
inclusion criteria: * patients with acute mesenteric ischemia exclusion criteria: * patients with other causes of acute abdomen other than mesenteric ischemia
resolution of sickle cell leg ulcers with voxelotor

Conditions: Sickle Cell Disease; Leg Ulcers

Summary: this study is a phase 3, multicenter, randomized, placebo-controlled study to evaluate the efficacy of voxelotor and standard of care for the treatment of leg ulcers in participants with sickle cell disease. the study is divided into a 5 study periods: screening, run-in, randomized treatment, open-label treatment, and follow-up/end of study (eos). the study will be conducted in approximately 80 eligible participants at approximately 20 global clinical trial sites.


Eligibility criteria:
inclusion criteria: 1. male or female participants with documented diagnosis of scd (hbss, hbs/β0 thalassemia) 2. age 12 years and older 3. at least 1 cutaneous ulcer(s) on the lower extremity (leg, ankle, or dorsum of foot) that meets the following criteria: * duration: ≥ 2 weeks and \< 6 months at screening, and * size: \> 2 cm2 prior to randomization 4. written informed consent (≥ 18 years) or parental/guardian consent and participant assent (≥ 12-17 years) per iec policy and requirements, consistent with ich guidelines exclusion criteria: 1. target ulcer(s) healed by ≥ 25% during the standard of care run-in period prior to randomization 2. active infection/purulence at ulcer site, or exposed tendon or bone at the ulcer site, based on investigator's clinical judgment 3. current osteomyelitis at or near the ulcer site 4. known vascular abnormalities that would preclude healing in the opinion of the investigator (eg, pre-existing severe arterial insufficiency in the affected limb) 5. serum albumin \< 2.0 g/dl 6. rbc transfusion within 60 days of initiation of study drug 7. receiving regularly scheduled rbc transfusion therapy (also termed chronic, prophylactic, or preventive transfusion) during the study 8. planned elective surgery within the next 6 months 9. anemia due to bone marrow failure (eg, myelodysplasia) 10. absolute reticulocyte count \< 100 × 109/l 11. screening alanine aminotransferase (alt) \> 4 × upper limit of normal (uln) 12. severe renal dysfunction (estimated glomerular filtration rate \[egfr\] \< 30 ml/min/1.73 m2 by schwartz formula) or is on chronic dialysis 13. clinically significant bacterial, fungal, parasitic, or viral infection that requires therapy other protocol-defined eligibility criteria that apply

Keywords: sickle cell disease, scd
ischemia in patients with non-obstructive disease (inoca) in italy inoca it multicenter registry"

Conditions: Cardiac Ischemia

Summary: prospective, interventional, multicentre, non-randomized, single-arm open-label study that aims to enroll 200 consecutive patients with suspected chronic ischemic heart disease in the absence of obstructive coronary artery disease (inoca) at clinically indicated coronary angiography in 3 italian centers. during coronary angiography, these patients will be simultaneously subjected to a functional and coronary physiology study (according to the methods reported below): * functional evaluation with fractional flow reserve (ffr), instantaneous wave-free ratio (ifr), resting full-cycle ratio (rfr) of angiographic stenosis\> 50%; * in the presence of coronary angiographic stenosis \ 50% but in the presence of a negative functional assessment (ffr\> 0.80 and ifr / rfr\> 0.90), coronary flow reserve (cfr) and index of microvascular resistance (imr) will be measured. imr and cfr will be assessed using intra-coronary guidance; * in the presence of cfr\> 2.0 and imr \<25, tests with acetylcholine will also be performed in order to evaluate the possible presence of epicardial (focal or diffuse) or microvascular spasm.


Eligibility criteria:
inclusion criteria: * clinical presentation of chronic ischemic heart disease (ihd), requiring coronary angiography for the diagnosis * absence of obstructive cad at coronary angiography * age \> 18 years * ability to provide a valid informed consent to the study procedure at the time of baseline evaluation exclusion criteria: * clinical presentation of acute coronary syndrome (acs) or cardiogenic shock * presence of obstructive cad with at least 1 significant coronary artery stenosis, defined as diameter stenosis \>50% and ffr ≤0.80 (or ifr/rfr ≤0.89) * previous coronary artery bypass grafting (cabg) * left ventricular systolic dysfunction, defined as ejection fraction (ef) \<40% * severe valvular heart disease * pregnant or breastfeeding women * known hypersensitivity or contraindication to any of the drugs used for coronary physiology testing (adenosine, nitrates, acetylcholine) * inability or unwillingness to provide a valid informed consent to the study procedure at the time of baseline evaluation

Keywords: non-obstructive coronary artery disease
factors influencing the mortality of patients with subarachnoid haemorrhage

Conditions: Spontaneous Subarachnoid Hemorrhage

Summary: spontaneous subarachnoid haemorrhage (sah) is a serious cerebrovascular disease with high morbidity and mortality.determining the factors associated with mortality in the icu follow-up and treatment of patients with spontaneous sah is very important for clarifying these uncertainties and improving icu outcomes.in the literature, there are very few studies analysing icu mortality and mortality-related factors in this patient group.the aim of this study was to determine the demographic/clinical characteristics and factors affecting the mortality of spontaneous sah patients admitted in the icu.

patients aged 18 years and older who were diagnosis of spontaneous sah and admitted the icu were included in the study. the diagnosis of spontaneous sah was based on the brain computed tomography (ct) or lumbar puncture. patients with a final outcome (survival or mortality) in our centre were included in the analysis were included. only patients admitted to the icu for the first time were included. patients with traumatic sah, history of significant head trauma in the previous two weeks (any abnormality on brain ct requiring hospitalisation for more than 24 hours), pregnancy and length of icu stay ≤24 hours were excluded.the clinical and radiological severity of the patients at icu admission was according to acute physiological and chronic health evaluation-ii score (apache ii), glasgow coma scale (gcs), modified fisher scale, world federation of neurological societies (wfns) and hunt and hess (h\&h) grading systems.demographic and clinical data derived and analyzed included age, sex, smoking history, comorbidities. presenting signs and symptoms, diagnoses responsible for spontaneous sah (aneurysm, arterial malformation, etc.), site of aneurysm, risk factors, location of the aneurysm, risk factors, blood pressure during icu admission, and scores from grading systems indicating clinical and radiological severity of the disease were recorded. procedures for spontaneous sah, complications during icu follow-up (vasospasm, meningitis, electrolyte disturbances, rebleeding, dci, vip, sepsis/septic shock) and treatments, duration of icu stay and mechanical ventilation, icu outcome (survival or mortality), causes of mortality and brain death status were recorded. according to the outcome of the icu process, the patients were divided into two groups as survival and mortality.

Eligibility criteria:
inclusion criteria: * patients aged ≥18 years with a confrmed diagnosis of spontaneous subarachnoid haemorrhage by a brain computed tomography (ct) * patients with a final outcome (survival or mortality) in our centre exclusion criteria: * patients with traumatic sah * history of significant head trauma in the previous two weeks (any abnormality on brain ct requiring hospitalisation for more than 24 hours) * pregnancy * length of intensive care unit stay ≤24 hours

Keywords: intensive care unit mortality spontaneous subarachnoid haemorrhage
comparison of complement factors and genetic polymorphisms of amd between patients with systemic lupus erythematosus (sle) with and without retinal "pseudo-drusen-like" deposits: case-control study (pl-amd)

Conditions: Lupus Erythematosus; Lupus Erythematosus, Systemic; Age Related Macular Degeneration

Summary: the rationale of this research is to determine if patients with lupus and presenting retinal "pseudo-drusen-like" deposits have genetic and complement-related similarities with amd patients. based on the results obtained, this study could lead to future research that could better target the treatment of patients with lupus or patients with amd (age related macular degeneration). the primary objective is to check if patients with lupus, treated or not with antimalarial drugs, with "pseudo-drusen-like" deposits have a different complement profile (functional exploration of complement, complement factors, genetic complement polymorphisms involved in amd) compared to patients without "pseudo-drusen-like" deposits.


Eligibility criteria:
inclusion criteria: * systemic lupus erythematosus * case patients : with "pseudo-drusen-like" deposit * control patients : without "pseudo-drusen-like" deposit exclusion criteria: * patient under a measure of legal protection

Keywords: lupus erythematosus, systemic age related macular degeneration "pseudo-drusen-like" deposits
pronator quadratus preservation following volar plate fixation. rct

Conditions: Wrist Fracture,; Distal Radius Fracture; Pronator Quadratus; Volar Plate; Surgery

Summary: the purpose of this study is to determine pronator quadrutus preservation have clinical impact following volar plate fixation


Eligibility criteria:
inclusion criteria: * fractures of distal radius with instability (aofoundation.org) * age between 15-75 años * informed consent approval for ethical comitte exclusion criteria: * previos surgery of the hand, wrist or forearm * inflammatory arthropathy * carpal tunel syndrome * sensory or mixed neuropathy * bilater wrist fracture * functional deficits of ipsilateral extremity * functional deficits of contralateral extremity * complications after surgery with motor deficit * disease that can evolve with neuropathy during study time
intermittent catheterization in spinal cord injured men

Conditions: Spinal Cord Injuries

Summary: the aim of this investigation is to study how the position of different catheters affect drainage of the bladder.


Eligibility criteria:
inclusion criteria: * has given written informed consent * is at least 18 years of age and has full legal capacity * is a male * has an spinal cord injury diagnosis exclusion criteria: * participating in other interventional clinical investigations or have previously participated in this investigation * known hypersensitivity toward any of the test products * serious abdominal scars * symptoms of urinary tract infections
home rehabilitation improves cardiac effort in pulmonary arterial hypertension

Conditions: Pulmonary Arterial Hypertension PAH

Summary: the purpose of this study is to evaluate whether a home rehabilitation program for patients diagnosed with pulmonary arterial hypertension (pah) will decrease cardiac effort (number of heart beats used during 6-minute walk test/walk distance) and improve quality of life. ultimately, this information could help improve the management of patients with pah.


Eligibility criteria:
inclusion criteria: * follows at university of rochester medical center pulmonary hypertension clinic. * adult patients (\&gt;18 years old) with right heart catheterization confirmed pulmonary hypertension (pah) on stable vasodilator dosing for at least 30 days. no planned titrations will occur during the 12-week study. if during the study, the treating physician feels it is necessary for safety reasons to adjust dosing, the subject will remain in their assigned group. * access to a smart phone or email to receive daily messages. if patients do not have access to either, we will offer a smartphone with cellular service for use during the study to receive daily messages. * clinically stable by the investigator (i.e., we will not enroll patients who endorse ongoing improvement or clinical worsening at enrollment). * the treating investigator (dr. lachant or dr. white) will review the clinical data of an eligible patient and establish them as safe to participate prior to approaching the patient for enrollment (i.e. not in decompensated heart failure or with recurrent pre-syncopal episodes prior to enrollment). exclusion criteria: * pregnancy. * pulmonary hypertension groups 2-5. * resting tachycardia \&gt;120 beats/m during screening. * inability to walk. * who functional class iv * lack of access to email or text messaging. * inability to follow daily instructions. including the two home 6-minute walk tests during the initial monitoring period. this is to show compliance with the protocol. * participating in a self-reported rehabilitation or exercise program. * oxygen therapy of more than 6 l/min at rest. * principal investigator discretion
prostate cancer treatment following radiation failure with high intensity focused ultrasound (hifu)

Conditions: Prostate Cancer

Summary: this is a feasibility study to determine safety and the ability of hifu (high intensity focused ultrasound)to selectively destroy prostate cancer tissue in men who demonstrate local recurrence of prostate cancer following radiation treatment.

this is a feasibility study to determine the safety and the ability of hifu (high intensity focused ultrasound)to selectively destroy prostate cancer tissue in men who demonstrate local recurrence of prostate cancer following radiation treatment. all participants will receive treatment with hifu and be monitored closely for recurrence of disease (if any),quality of life and adverse events.

Eligibility criteria:
inclusion criteria: * · male patients with an initial presentation of organ confined recurrent prostate cancer (clinical stages t1 and t2 only) who have been treated with external beam radiation therapy or brachytherapy and subsequently has biopsy-proven local recurrence. * age \> 40 years through \<80 years. * anesthesia surgical assignment (asa) categories i, ii or iii only. * negative radionuclide bone scan within 3 months prior to hifu treatment to rule out the possibility of metastases. * psa levels \>0.5ng/ml and \<10ng/ml. * pre-radiation gleason score \< 8 * clearly imageable prostate on trus * written informed consent. exclusion criteria: * · t3 or t4 prostate cancer. * age \ 80 years. * asa of iv and higher. * gleason score\>8. * psa \ 10ng/ml. * prostate size \> 40 grams as determined by transrectal ultrasound * large calcification in the area to be treated (\>5mm). * bleeding disorder as determined by abnormal prothrombin time (inr)and partial thromboplastin time (ptt). * patient on coumadin or any other anticoagulant, unless their anticoagulation can be temporarily reversed or stopped. * urinary tract infection unless treated satisfactorily by antibiotics and documented by a sterile urine culture. * interest in future fertility. * history of allergy to latex. * inability to visualize the prostatic tissue adequately on transrectal ultrasound imaging. * currently on hormonal therapy for prostate cancer (patients can be enrolled if they come off hormone therapy for 3 months). * history of treatment for prostate cancer, other than brachytherapy or external beam radiation. * history of turp, thermotherapy or urethral stent. * history of any major rectal surgery. * history of inflammatory bowel disease. * history of urinary bladder neck contracture. * history of any other malignancy other than skin cancer.

Keywords: high intensity focused ultrasound men locally recurrent prostate cancer.
use of quetiapine as an add on therapy in the treatment of post traumatic stress disorder

Conditions: Post-Traumatic Stress Disorder

Summary: the purpose of this study is to evaluate how effective quetiapine versus placebo is when added to an existing therapy, in reducing the symptoms of ptsd.


Eligibility criteria:
inclusion criteria: * hospitalised and non-hospitalised patients / veteran or civilian / have had symptoms of ptsd for a minimum of 12 months prior to giving consent to the study exclusion criteria: * history of psychotic condition / quetiapine or other anti-psychotics not worked previously / taking prohibited medications (mood stabilizers / substance abuse)
compare effects of flax seed oil, and fish oil on blood sugar levels

Conditions: Polycystic Ovarian Syndrome

Summary: flax seed oil, fish oil, and soy bean oil, are commonly recommended supplements for polycystic ovarian syndrome (pcos). these oils have different chemical structures and biological actions. it is not yet known which of these oils has the most beneficial effects in pcos patients because they have never been compared to each other head to head. in this study the researchers hope to learn more about the effects of these oils on blood sugar and insulin levels.

the aim is to investigate whether n-3 pufa's can be used to prevent postprandial hypoglycemia and its unfavorable consequences, such as stimulation of cortisol and adrenal androgen secretion, in women with polycystic ovarian syndrome.

Eligibility criteria:
inclusion criteria: * females ages 18-45 * women who are overweight, and have irregular periods or have been diagnosed with polycystic ovarian syndrome exclusion criteria: * use of oral contraceptives * impaired glucose tolerance * diabetes mellitus, and any other systemic illnesses such as renal, hepatic, gastrointestinal, severe hyperlipidemia and hypertension that require medication * schizophrenia * having a pacemaker * current viral infection * smoking alcohol intake (more than 2 drinks/week)
extending hiv care beyond the rural health center

Conditions: HIV; HIV Infections

Summary: the objective of this application is to develop and assess a system which uses non-clinician extenders to provide selected aspects of hiv care in rural western kenya. the plan is to train persons living with hiv/aids (plwas) to undertake this role as community care coordinators. our central hypothesis, is that plwas can be effective members of the health care team and that their involvement in community-based hiv care will facilitate patient access to services and improve outcomes. as such our two specific aims are: 1) to develop a sustainable system to extend hiv care into the community and to train the individuals necessary to support such a system (community care coordinators). 2) to determine the impact of community care coordinators on patient adherence (to drugs and to clinic visits), clinical outcomes (i.e. viral load responses \[an individuals level of circulating hiv virus\], inter-current opportunistic infections, hospitalization, drop out from the program, change to second line therapy and mortality) and patient perception of stigma. this study will provide invaluable data on the use of non-clinician care extenders for providing hiv care in resource poor settings. as such, knowledge gained from this study will assist in developing a model for non-clinician centered hiv care systems elsewhere in sub-saharan africa.


Eligibility criteria:
inclusion criteria: 1. hiv infected 2. \>18 years old 3. household members are aware of the patient's hiv infection 4. clinically stable on arvs and no significant adherence issues for 3 months, 5) live in kosirai division 6) willing to consent to participate. exclusion criteria: 1. active opportunistic infection 2. pregnant 3. hospitalized in the previous 3 months 4. unable to understand the informed consent process due to mental or physical incapacity.

Keywords: africa antiretrovirals