Kornimate/medical-research-clean huggingface dataset:
characterization of a functional test for mediterranean family fever screening - 2

Conditions: Familial Mediterranean Fever; MEFV Gene Mutation

Summary: familial mediterranean fever (fmf) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). it is caused by mutations in the mefv gene, which encodes variants of the pyrine inflammasome. inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β). in vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in fmf patients compared to healthy subjects. furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls. the performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for mefv mutations. the investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for fmf and can quantitatively discriminate against patients with different mutations (genotypes).


Eligibility criteria:
inclusion criteria: * children 4 years of age or older or adults * having a clinical picture compatible with an fmf and a previous genetic analysis finding at least one mutation of the mefv gene pathogenic or possibly pathogenic for the fmf group; * newly diagnosed or in the process of follow-up (with no time limit or evolutionary criteria); * during specific or non-specific treatment of the disease or without treatment; * for whom a blood test is planned as part of routine care; * whose informed non-opposition has been collected (or parental non-opposition in the case of a minor patient); exclusion criteria: * person under legal protection or under the protection of justice or any other protective measures; * person out of state to express their consent; * person in emergency situation, vital or not; * known infections with hiv and / or hbv and / or hcv;

Keywords: familial mediterranean fever interleukin-1β mefv gene mutation innate immunity
the effect of rıgıd brace on spinopelvic parameters and gap score in adolescents with structural hyperkyphosis

Conditions: Hyperkyphosis, Adolescent; Scheuermann Disease; Spinal Curvatures

Summary: this study aimed to investigate the effect of rıgıd brace treatment on spinopelvic parameters and gap score in patients with adolescent hyperkyphosis. this was a retrospective analysis of prospectively collected data. thirty-two patients who were diagnosed with structural hyperkyphosis and treated with cad-cam design rigid brace were included in the study in formed healthcare scoliosis treatment and brace center between december 2015-2020.


Eligibility criteria:
inclusion criteria: * subjects who diagnosed with scheuermann's kyphosis or adolescent hyperkyphosis. * inıtial curve magnitude between 55-75° * patients who followed up at least 6 months * patients who wearing cad-cam (computer-aided design\&computer-aided manufacturing) design tlso(thoraco-lumbo-sacral orthosis) kyphosis brace in 16 hours/day or more exclusion criteria: * history of spinal surgery or trauma * patients has kyphosis due to congenital, neuromuscular, traumatic, tumor, infection causes * ankylosing spondylitis and other spondyloarthropathies. * the lack of appropriate full-length lateral radiography with acceptable quality at the baseline or final assessment.

Keywords: scheuermann disease adolescent hyperkyphosis sagittal balance spinopelvic parameters
evaluation of sexual function and quality of life tests in patients who underwent manchester operation for pelvic organ prolapse

Conditions: Pelvic Organ Prolapse (POP)

Summary: pelvic organ prolapse is a condition that affects sexual health and quality of life at all ages. the efficacy of the manchester operation planned in appropriate patients and its effects on the sexual function and quality of life of the patient were investigated and it was thought that uterine preservation should be offered as a treatment option in the young age group of patients who want uterine preservation and in cases with comorbidity and short operation time required.

patients with ≥2 pelvic organ prolapse according to pop q staging system who are examined in the urogynecology outpatient clinic with the complaint of prolapse will be presented to the gynecology council. as a result of p0p q scoring, patients with cervical elongation findings with c point ≥0, d point ≤-4 and estimated cervical length ≥5 cm, age, fertility, patient's desire to preserve the uterus, comorbid diseases will be evaluated and patients who are planned for manchester operation in the council decision will be included in the study. all patients will have undergone ultrasonography and cervical smear screening. cervical, uterine and ovarian malignant pathologies will be excluded. anamnesis information and test results of these patients who require operation will be obtained from the electronic information system of our hospital and the files of the patients. in the case report form, the patient's age, obstetric anamnesis, bmi (body mass index), pop q scoring in preoperative and postoperative 6th month pelvic examination, female sexual function index (fsfi) questionnaire consisting of 19 questions to evaluate sexual life, prolapse quality of questionnaire (p qol) questionnaire consisting of 36 questions to evaluate quality of life will be performed. duration of operation, estimated blood loss, postoperative hemogram change will be obtained from the operation records. preoperative and postoperative 6th month pop q scoring, sexual function and quality of life tests were evaluated.

Eligibility criteria:
inclusion criteria: * patients undergoing manchester operation for pelvic organ prolapse exclusion criteria: * patients who refused to participate in the study. patients undergoing hysterectomy for pelvic organ prolapse, cancer patients, patients with uterine, cervical and ovarian malignancy.

Keywords: pelvic organ prolapse manchester operation
optimisation of functional mri-based neurofeedback for alcohol use disorders

Conditions: Alcohol Abuse

Summary: participants will undergo a single session of functional magnetic resonance imaging (fmri)-based neurofeedback (approximately 1 hour). the investigators will assess their ability to regulate motivational networks of the brain during the exposure to alcohol cues and evaluate immediate effects on craving and cognitive bias for alcohol by administering a questionnaire and a stroop task before and after the session.


Eligibility criteria:
inclusion criteria: * history of alcohol use disorder or current alcohol consumption above 21 units (1 unit = 8g) of alcohol per week (male participants) or above 14 units of alcohol per week (female participants) exclusion criteria: * mri safety exclusion criteria
a trial of setmelanotide in acquired hypothalamic obesity

Conditions: Hypothalamic Obesity

Summary: the goal of this trial is to learn how well setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with acquired hypothalamic obesity (ho). to determine how well setmelanotide works and how safe it is, patients with ho will take a daily injection of either setmelanotide or placebo and complete trial assessments for 52 weeks on a therapeutic regimen. a separate sub-study in patients with congenital ho is detailed under nct06760546.


Eligibility criteria:
key inclusion criteria: 1. documented evidence of acquired hypothalamic obesity (ho) 2. age 4 years and older 3. weight gain associated with the hypothalamic injury and a bmi of ≥30 kg/m2 for patients ≥18 years of age or bmi ≥95th percentile for age and sex for patients 4 to \<18 years of age 4. agree to use a highly effective form of contraception throughout the study and for 90 days after the study key exclusion criteria: 1. diagnosis of prader-willi syndrome (pws) or rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, neuroendocrine tumor syndrome (rohhadnet) 2. weight loss \>2% in the previous 3 months for patients aged ≥18 years or \>2% reduction in bmi for patients aged 4 to \<18 years 3. bariatric surgery or procedure within last 2 years 4. diagnosis of severe psychiatric disorders; any suicidal ideation, attempt or behavior 5. current, clinically significant pulmonary, cardiac, metabolic, or oncologic disease 6. significant dermatologic findings relating to melanoma or pre-melanoma skin lesions (excluding non-invasive basal or squamous cell lesion) 7. history or close family history of skin cancer or melanoma 8. participation in any clinical trial with an investigational drug/device within 3 months prior to the first trial dose 9. previously enrolled in a clinical trial involving setmelanotide or any previous exposure to setmelanotide 10. inability to comply with once daily (qd) injection regimen 11. if female, pregnant and/or breastfeeding 12. patients with obesity attributable to other genetic or syndromic conditions (eg, ppl \[pomc, pcsk1, lepr, collectively\], bbs) prior to the hypothalamic injury. 13. if receiving hormone replacement therapy, dose has remained stable for at least 2 months before screening other protocol defined inclusion/exclusion criteria may apply.

Keywords: melancortin 4 receptor, mc4r
the oscillation for ards treated early (oscillate) trial pilot study

Conditions: Acute Respiratory Distress Syndrome

Summary: acute respiratory distress syndrome (ards) is a common and catastrophic complication of critical illness related to burns, motor vehicle accidents, or overwhelming infection. ards kills 40-70% of affected patients. patients with ards require life support in the form of a ventilator to breathe for them while their lungs heal. ironically, ventilators can cause further damage to the lungs. we are conducting a study comparing 2 methods to protect the lungs from further damage. one method uses standard mechanical ventilators and the other uses a new type of ventilator, called a high frequency oscillator. we propose to test whether this high frequency oscillation will reduce the relative risk of dying from ards. 72 patients from 12 intensive care units in canada and saudi arabia will participate in this preliminary study to test the feasibility of our study methods. if feasible, we plan to move on and conduct a large multinational study to definitively answer this question.


Eligibility criteria:
inclusion criteria: * patients of either sex, 16 years and above; * acute onset of respiratory failure, with fewer than 2 weeks of new pulmonary symptoms; * endotracheal intubation or tracheostomy; * hypoxaemia - defined as a pao2/fio2 ≤ 200 mm hg; * bilateral alveolar consolidation (airspace disease) seen on frontal chest radiograph exclusion criteria: * remaining duration of mechanical ventilation \< 48 hours, as judged by the attending physician; * primary cause of acute respiratory failure judged by attending physician to be cardiac in origin; * lack of commitment to ongoing life support; * weight \< 35 kg; * severe chronic respiratory disease * morbid obesity - defined as \> 1 kg / cm body height; * neurological conditions with risk of intracranial hypertension (hypercapnia should be avoided); * neuromuscular disease that will result in prolonged need for mechanical ventilation; * previous enrolment in this trial; * all inclusion criteria present for \> 72 hours; * on hfo at the time of screening.

Keywords: high frequency oscillation lung-protective ventilation ards ventilator-induced lung injury
natural killer cells in older patients with acute myeloid leukemia

Conditions: Leukemia

Summary: rationale: studying natural killer cells in samples of blood from patients with cancer may help doctors find out how these cells are effected by chemotherapy. purpose: this clinical trial is studying natural killer cells in older patients with acute myeloid leukemia.

objectives: primary * determine the evolution of functional receptors of natural killer (nk) cells after completion of chemotherapy in elderly patients with acute myeloid leukemia in first remission. secondary * measure the kinetics of cytotoxic functional recovery of nk cells. * determine activation markers of nk cells. outline: this is a multicenter study. patients receive 1 course of consolidation therapy comprising an anthracycline and cytarabine to induce first remission. blood is collected on day 0 of the consolidation course and then every 2 weeks for 8 weeks.

Eligibility criteria:
disease characteristics: * diagnosis of acute myeloid leukemia * no promyelocytic leukemia * no prior therapy patient characteristics: * hemoglobin \> 10 g/dl prior concurrent therapy: * see disease characteristics

Keywords: untreated adult acute myeloid leukemia adult acute megakaryoblastic leukemia (m7) adult acute minimally differentiated myeloid leukemia (m0) adult acute monoblastic leukemia (m5a) adult acute monocytic leukemia (m5b) adult acute myeloblastic leukemia with maturation (m2) adult acute myeloblastic leukemia without maturation (m1) adult acute myelomonocytic leukemia (m4) adult erythroleukemia (m6a) adult pure erythroid leukemia (m6b) adult acute myeloid leukemia with 11q23 (mll) abnormalities adult acute myeloid leukemia with inv(16)(p13;q22) adult acute myeloid leukemia with t(16;16)(p13;q22) adult acute myeloid leukemia with t(8;21)(q22;q22)
allogeneic bone marrow transplantation from unrelated donors in multiple myeloma

Conditions: Multiple Myeloma; Allogeneic Transplantation

Summary: autologous hematopoietic cell transplantation is currently considered the standard therapy of multiple myeloma (mm) for elegible patients. on the contrary, despite new developments in transplant procedures and supportive care, allogeneic bone marrow transplantation is less commonly used due to high transplant related mortality (trm). no consensus statement about allografting in mm has so far been reached and only a minority of patients undergoing allografting are enrolled in prospective clinical trials. moreover, use of unrelated donors is considerably increased over the time and the recent activity survey of european group for blood and marrow transplantation (ebmt) showed that the number of allografts from unrelated donor is higher than that one from hla-identical siblings in europe. in order to evaluate trends in allograft from unrelated donors in multiple myeloma patients, the investigators plan to conduct a restrospective study through the italian bone marrow transplantation registry (ibmdr) over a period ranging since 2000 to 2009. data will be collected from the central data management system promise (project manager internet server) used by ebmt and from ibmdr. the aim of the study is to evaluate the role of unrelated donor allograft in multiple myeloma over the last decade and hopefully offer recommendations on patient selection. primary endpoints of the study are: a) overall survival (os) from diagnosis and from the allograft b) event-free-survival (efs) from the allograft. disease response criteria will be defined according to the international uniform response criteria for multiple myeloma. transplant related mortality, graft-versus-host-disease (gvhd), either acute or chronic (limited/extensive) will be evaluated as cumulative incidences. univariate and multivariate analysis will be calculated for the transplant-related and patient-related characteristics.


Eligibility criteria:
inclusion criteria: * multiple myeloma patients treated with allogeneic bone marrow transplantation from unrelated donors (from 2000 to 2009: centri trapianto gitmo) exclusion criteria: * no exclusion criteria

Keywords: allogeneic bone marrow transplantation multiple myeloma
pregnenolone for the treatment of alcohol use disorder

Conditions: Alcohol Use Disorder

Summary: this phase 2 randomized cotrolled trial (rct) will assess the safety and efficacy of pregnenolone (preg; 300 mg/day, b.i.d dosing) vs. placebo (pbo) over a 12 week treatment period, and at 1-month post-treatment follow-up in individuals with alcohol use disorder (aud).

in this phase 2 single-site randomized controlled trial (rct), men and women with alcohol use disorder (aud) will be enrolled in a 12 week trial with a 1-month follow-up assessment. participants will be randomly assigned to 300mg pregnenolone (preg) treatment b.i.d., or placebo (pbo). all participants will be assessed 2x weekly and also receive behavior counseling to support recovery. the study aims to examine a) the safety and tolerability; b) efficacy on alcohol use outcomes; and c) effects on alcohol craving, anxiety, depression and physical well-being of 300mg preg vs. pbo in men and women with aud over the 12-week treatment period and at the 1-month follow up post-treatment period.

Eligibility criteria:
inclusion criteria: * male and females, aged 18-70 years; * regular weekly use of alcohol at least 3x weekly or more at treatment entry; * must meet current dsm-5 criteria for moderate to severe alcohol use disorders (auds) using scid-i for dsm-5; * no health conditions that would impact trial participation as verified by screening and physical examination and absence of any of the exclusion criterions outlined below; * able to read english and complete study evaluations; * able to provide informed written and verbal consent. exclusion criteria: * meet current criteria for moderate to severe substance use disorders from use of any other psychoactive substance, excluding nicotine and cannabis use disorder; * current use of opioids; * regular use of anticonvulsants, sedatives or hypnotics, oral prescription analgesics (other than non-steroidal anti-inflammatory drugs), topiramate, baclofen; * regular use of steroidal supplements and steroid medications interacting with study medications based on clinical judgement of study physician (excluding hormonal contraceptives in women); * psychotic or otherwise severely psychiatrically disabled (i.e., suicidal, homicidal, current mania); * significant underlying medical conditions such as cerebral, renal, thyroid or cardiac pathology which in the opinion of study physician would preclude patient from fully cooperating or be of potential harm during the course of the study, but stable, prescribed anti-hypertensives. cardiovascular and diabetes medications will be allowed after review by study physician; * any psychotic disorder or current axis i psychiatric disorders requiring specific acute attention, including need for psychiatric medications, but stable, prescribed antidepressants and anti-anxiety medication to treat co-occurring psychiatric disorders will be allowed; * women who are pregnant, nursing or refuse to use a reliable form of birth control (as assessed by urine pregnancy tests during initial medical evaluation, and assessed every two weeks during the course of the study).
calcaneal low dye taping plantar fascial stretching and sham taping in football players

Conditions: Sports Physical Therapy

Summary: showing the effect of calcaneal low-dye taping on acute planter heel pain and functional activity level in football players.

planter fascia is a fibrous connective tissue originate from the medial calcaneal tubercle and help support the arch of the foot repetitive tensile overload from standing for long periods of time or running causes changes in the aponeurosis. patient mostly present with pain on first step in the morning or after long non-weight bearing , tenderness to anterior medial head. its can first be treated conservatively where 90 % cases treated greater then 6 months of duration. baseline treatment is given as rest , ice , compression and elevation , with this nsaid ,shoe inset ,taping, orthotics, deep friction massage and precautions are advised to the patients. arch taping is most probably used and orthotics in acute treatment is commonly preferred due to its cost.taping effects most probably overlooked in general gait parameters, patient feedback on pain relief and function recovery.

Eligibility criteria:
inclusion criteria: * both male and female football players * age (20-45 yrs) * pain with the first step upon walking * pain located at the heel or planter surface of mid-foot consistent with planter fasciitis * presence of an everted calcaneus greater than or equal to 2° exclusion criteria: * patient with surgery and treatment with previous 6 month * history of ankle or foot fracture * congenital deformity of the foot and ankle * sever spasticity * use of an assistive device * bilateral planter heel pain * refusal to participate in study

Keywords: calcaneal taping, , plantar fascia, low dye taping foot,
evaluation of amnion chorion membrane and demineralized bone matrix putty allograft in periodontal intrabony defects

Conditions: Chronic Periodontitis

Summary: a clinical and radiographic evaluation of 2 regenerative techniques, bioresorbable membrane and bone allograft for management of periodontal intrabony defects.

twenty-two patients suffering from advanced chronic periodontitis were included in this randomized controlled clinical trial. each subject contributed had two- or three-walled intrabony defects. patients were randomly assigned into two groups; bioresorbable membrane or bone allograft. clinical parameters were recorded at baseline and at 3 and 6 months postoperatively. radiographic parameters were recorded at baseline and at 6 months postoperatively.

Eligibility criteria:
inclusion criteria: * severe chronic periodontitis patients. * having at least one site with pocket depth ≥ 6 mm and clinical attachment level ≥ 5 mm, with radiographic evidence of bone loss as detected in periapical radiographs. exclusion criteria: * pregnant women * having any given systemic disease * taking any type of medication and/or antibiotic therapy during the 3 months before the study * received periodontal treatment within the past 12 months current or former smokers