Kornimate/medical-research-clean huggingface dataset:
new variants involved in taybi-linder syndrome

Conditions: Taybi Linder Syndrome; Genetic Syndrome

Summary: taybi-linder syndrome (tals, omim 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (mopd). this syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in rnu4atac. although rnu4atac-associated tals is a recognizable phenotype, an atypical presentation is sometimes observed, thus expanding the clinical spectrum (tals-like phenotype). this study aims to identify new variants involved in taybi-linder syndrome and associated phenotypes (i.e.tals-like). this non interventional study will be performed on patients with no proven mutation of rnu4atac and their blood relatives (19 samples total) by high throughput sequencing and genetic analysis of already collected deoxyribonucleic acid samples. altogether, such a study will allow a better understanding of the molecular mechanisms responsible for the taybi-linder syndrome and taybi-linder syndrome-like phenotypes as well as the pathophysiology of these devastating forms of microcephalic dwarfism.


Eligibility criteria:
inclusion criteria: * foetus or young children diagnosed with a taybi-linder or taybi-linder like syndrome, with no rnu4atac mutation (index case) * aged 20 weeks pregnant to 18 years old * parents or sibling of the index cases, with informed consent for the analysis of both their dna sample and the one of the index case. exclusion criteria: * no informed consent for the use of genetic samples for medical research
efficacy of individualized rituximab in maintaining remission of moderate and severe systemic lupus erythematosus

Conditions: Autoimmune Diseases

Summary: several clinical studies have shown that rituximab is safe and effective for the induction of remission in moderate to severe systemic lupus erythematosus, and has been recommended by several guidelines for the induction of remission in refractory lupus with important organ involvement. however, there are few studies on the use of rituximab in the long-term maintenance and remission of the disease. there is no recognized scheme for the dose, interval and course of treatment of the drug. in this study, patients with moderate and severe systemic lupus erythematosus who achieved remission after standardized treatment were randomly divided into two groups at 1:1 and followed up every 3 months for 24 months. the basic situation and disease activity score of each subject were recorded. the recurrence rate of each observation group was calculated, the influencing factors of disease recurrence were analyzed, and a more reasonable drug use scheme was explored.


Eligibility criteria:
inclusion criteria: 1. age, 18-65 years old, weight ≥ 40 kg, sex unlimited. 2. clearly diagnosed with systemic lupus erythematosus. 3. there was at least one bilag b or above score in the kidney, blood system and nervous system. 4. after standardized treatment with high dose glucocorticoid combined with immunosuppressants such as ctx,mmf or rtx, complete or partial remission of the disease was achieved (up to 1 bilag b score, and at least 1 bilag a or bilag b score less than before). 5. glucocorticoid: prednisone or the equivalent of prednisone less than or equal to 20 mg daily dose, and can be increased or decreased within 20 mg during the study. 6. subjects are willing to participate in this study and sign informed consent voluntarily. 7. prospective subjects agreed to use effective contraception throughout the study period. exclusion criteria: 1. abnormal liver function: alt or ast \>2uln，or alp or tbil \>1.5uln 2. severe cardiopulmonary disease; 3. severe blood system disease 4. patient with malignant tumor; 5. concurrent infection：subjects were hospitalized for infection or treated with parenteral antibiotics within 30 days before random; hepatitis b surface antigen positive or active hepatitis, not treated with hepatitis b antivirus; t-spot positive or active tuberculosis, not treated with antituberculous therapy; any positive in hcv-ab, hiv-ab, or tppa ; 6. pregnant patients or patients with recent fertility requirements; 7. received cyclophosphamide treatment within 30 days before random; 8. for any other reason, the investigator believes that it is inappropriate to participate in the trial.

Keywords: systemic lupus erythematosus rituximab
kathy:cognitive-behavioural therapy for hypochondriasis

Conditions: Hypochondriasis

Summary: the purpose of this study was to examined if psychotherapy is an effecitive treatment for hypochondriasis.

background: the central feature of hypochondriasis is preoccupation or fear of having a serious disease based on misinterpretation of bodily signs. psychotherapeutic treatments have developed with focus on different aspects of the condition. several controlled trials have examined the effectiveness of different treatment strategies. hypothesis: hypochondriasis is accessible for treatment. specific cognitive treatment focused on misinterpretation of bodily sensations is more effective than short-term non-specific psychodynamic psychotherapy. method: patients with hypochondriasis were randomisation to cognitive behavioural therapy (cbt), psychodynamic psychotherapy, or waiting list. patients on waiting list were subsequently randomised to cbt or dynamic psychotherapy. the patients received six-teen sessions over a period of six month. follow-up assessments were made six and twelve month after treatment.

Eligibility criteria:
inclusion criteria: (1) age between 18 and 65 years, (2) danish as native language, (3) fulfilment of the icd-10 research criteria for hypochondriasis (3), (4) health anxiety to a significant degree: a score more than 17 on the health anxiety inventory (hai) (5). - exclusion criteria: (1) current psychotic condition, (2) current substance abuse, (3) a medical condition which demanded immediate treatment, (4) psychopharmacological treatment initiated or increased during the last 6 weeks before treatment, and (5) previous cognitive behavioural treatment. -
gr1803 injection in patients with relapsed/refractory multiple myeloma

Conditions: Multiple Myeloma

Summary: all subjects will receive gr1803 injection until intolerable toxicity or investigator-assessed disease progression occurs (except in cases of disease progression due to discontinuation of the drug as a result of an adverse event) or until the subject has been administered the drug for 2 years or until the subject withdraws consent or until the investigator determines that the subject needs to be discontinued.


Eligibility criteria:
inclusion criteria: * 1、ecog score 0-2 2、≥18 years of age 3、multiple myeloma must be measurable by central laboratory assessment: serum monoclonal paraprotein (m-protein) level ≥0.5 g/dl or urine m-protein level ≥200 mg/24 hours; or light chain multiple myeloma without measurable disease in the serum or the urine: serum immunoglobulin free light chain (flc) ≥10 mg/dl and abnormal serum immunoglobulin kappa lambda flc ratio. exclusion criteria: * 1、prior treatment with any bcma-targeted therapy 2、known active cns involvement or exhibits clinical signs of meningeal involvement of multiple myeloma 3、known allergies, hypersensitivity, or intolerance to the study drug (teclistamab) or its excipients 4、plasma cell leukemia , waldenström's macroglobulinemia, poems syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes), or primary amyloid light-chain amyloidosis.
new methods for early detection of acute kidney injury after heart surgery

Conditions: Acute Kidney Injury

Summary: the investigators intend to study 2 new methods for the early detection of acute kidney injury (aki) after cardiac surgery and compare and combine the predictive abilities of these methods with established renal injury markers and epidemiological models to detect (aki).

acute kidney injury is common after cardiac surgery and occurs in up to 20% of patients (ref rydén). this study will evaluate two new methods for the early detection of acute kidney injury in 200 patients undergoing elective cardiac surgery at the karolinska hospital. these methods are: 1. ultrasound based measurement of the kidneys blood flow profile measured using renal resistive index (rri). this will be measured prior and within 4 hours post surgery. ref herzberg, le dorze. 2. urine creatinine clearance will be measured in the first four hours after cardiac surgery. the investigators will also measure known renal injury markers in blood and urine samples post operatively. these include neutrophil gelatinise-associated lipocalin (ngal), tissue inhibitor of metalloproteinases (timp-2), insulin-like growth factor-binding protein 7 (igfbp7), kidney injury molecule 1 (kim-1), nephroclear, interleukin 18 (il-18), fatty acid-binding protein (l-fabp), fibulin-1, cystatin c och albumin. the new methods of aki detection will be used to build a statistical model to predict aki after cardiac surgery. we will determine whether the addition of renal injury markers and epidemiological factors known to be associated with the development of aki (variables such as age, known chronic renal dysfunction or heart failure) can improve precision in diagnosis. aki will be defined by the kidney disease improving global outcomes (kdigo) criteria (ref kdigo kdigo clinical practice guideline for acute kidney injury, khwaja a).

Eligibility criteria:
inclusion criteria: * 18 years and older * undergoing elective cardiac surgery (coronary artery bypass grafting, valve surgery, aortic surgery or a combination). * able to understand and give written consent to partake in the study exclusion criteria: * unable to give consent * previously received a renal transplant * renal failure requiring dialysis prior to surgery * persistent atrial fibrillation

Keywords: cardiac surgery renal resistive index creatinine clearance
a study on the efficacy and safety of ipyc for her2+ mbc

Conditions: Breast Cancer

Summary: between july 2020 and august 2024, 301 her2-positive mbc patients from five tertiary centers received the regimen until disease progression or unacceptable toxicity. efficacy endpoints included progression-free survival (pfs), objective response rate (orr), and clinical benefit rate (cbr).


Eligibility criteria:
inclusion criteria: * patients who underwent a biopsy of the metastatic site and were confirmed as having mbc * patients who received inetetamab + pyrotinib + chemotherapy as metastasis therapy. exclusion criteria: * male patients or individuals with prior malignancy * patients with prior or current enrollment in interventional clinical trials for mbc * patients who received less than 2 cycles of treatment (6 weeks of inetetamab or 8 weeks of pyrotinib) * patients who were lost to follow-up during the therapeutic process
a retrospective study on extranodal lymphoma or lymphoma of rare pathological types

Conditions: Lymphoma; Extranodal Lymphoma; Diffuse Large B Cell Lymphoma; Anaplastic Large Cell Lymphoma; Angioimmunoblastic T-cell Lymphoma; Marginal Zone Lymphoma; Mucosa-Associated Lymphoid Tissue Lymphoma; NK/T-Cell Lymphoma, Nasal and Nasal-Type; Intravascular Large B-Cell Lymphoma

Summary: the aim of this study is to retrospectively collect clinical information on patients with extranodal or rare lymphomas, and to explore the best treatment strategy for these lymphomas in the real-world population.

lymphoma is a highly common malignant tumor in asia. for specific extra-abdominal sites or rare pathological subtypes of lymphoma, traditional chemotherapy protocols often cannot provide satisfactory results for patients. this study aims to retrospectively collect clinical information on patients with extranodal lymphoma or rare pathological subtype lymphoma, including the distribution of involved sites, clinical and molecular characteristics of different lymphoma subtypes, clinical treatment protocols, and prognosis, to explore the best treatment strategy for these lymphomas in the real-world population.

Eligibility criteria:
inclusion criteria: 1. age ≥ 18 years (including 18 years old). 2. patients newly diagnosed with non-hodgkin lymphoma with extranodal involvement, whether it is primary, secondary, or cannot be determined; or patients newly diagnosed with non-hodgkin lymphoma of rare pathological types, including ivlbcl, smzl, alcl, aitl, maltl. 3. patients who have received systematic clinical treatment. 4. patients with measurable lesions, at least containing one effective evaluation of efficacy. exclusion criteria: 1. patients who only receive supportive treatment. 2. patients who cannot obtain effective evaluation data of efficacy.

Keywords: lymphoma extranodal
the association between cbt-i dose and innate immunity in insomnia and fatigue in prostate cancer patients

Conditions: Breast Cancer; Prostate Cancer

Summary: the objective of this project is to test the association between cognitive behavioral therapy for insomnia dose (number of sessions), severity of cancer related fatigue, and levels of innate immunity biomarkers. ultimately, this research will help to develop a better understanding of the underlying mechanisms of cancer related fatigue.

cancer-related fatigue (crf) and insomnia are prevalent among cancer patients and have been linked to decreases in quality of life and poorer overall survivorship. currently, the mechanisms underlying crf are not well understood, which has led to treatments that are only moderately effective. in addition, when compared to cognitive behavioral therapy for insomnia (cbt-i) in the general population, the treatment outcomes in cbt-i with cancer patients are subpar and, as such, this study will evaluate whether dose of cbt-i is effective in ameliorating crf.

Eligibility criteria:
inclusion criteria: * diagnosis of organ-confined breast cancer or prostate cancer * received radiation treatment * willing and able to provide informed consent * endorse problem with both insomnia and cancer-related fatigue, as measured by the insomnia severity index, multidimensional fatigue symptom inventory (short form) and the brief fatigue inventory exclusion criteria: * history of obstructive sleep apnea * history of narcolepsy * night shift work * distant metastatic disease at presentation * active drug/alcohol dependence
ageing and acute care physicians' performance

Conditions: Ageing

Summary: the proportion of older acute care physicians (acps) has been increasing. ageing is associated with physiological changes and research investigating how such age-related physiological changes affect clinical performance is lacking. specifically, crisis resource management (crm) consists of essential clinical skills in acute care specialties which when absent, can significantly impact patient safety. as such, the goals of this study are to investigate whether ageing has a correlation with baseline crm skills of acps and whether ageing influences learning from high fidelity simulation.

the proportion of older acute care physicians (acp), emergency, critical care \& anesthesia, has been steadily increasing. ageing is associated with physiological changes, which in turn can influence a physician's clinical abilities and decision-making. the litigation and physician disciplinary data suggests that incidents involving all physicians are likely to occur later in practice, with degree of injury identified in the claims being of greater severity. however research, investigating how age-related physiological changes affect clinical performance and patient safety, is lacking. crm skills are essential skills within acute care specialties, and are vital for patient safety. crm encompasses technical skills, as well as a rapid and organized approach to non-technical, cognitive skills such as decision-making, task management, situational awareness and team management. high-fidelity full body mannequin simulation-based education is effective for learning crm, including transfer of skills from the simulated setting to the clinical setting and improving patient outcome. however, there is a gap in the literature on whether physicians' age influences baseline crm performance and also learning from simulation-based education. although the effectiveness of high-fidelity simulation-based education has been studied extensively in junior learner populations (students, residents, fellows), there are a limited number of studies investigating its effectiveness in teaching crm in the ageing physician population. in fact, a recent systematic review looking at the role of simulation in continuing medical education (cme) in acps supported that there is limited evidence supporting improved learning. despite not knowing whether simulation is the correct tool in an ageing population, it is being recommended as a training, regulation and assessment tool for practicing physicians. objectives: the goals of this study are to: 1. investigate whether ageing has a correlation with baseline crm skills of acps using simulated crisis scenarios and 2. assess whether ageing influences learning from high fidelity simulation.

Eligibility criteria:
inclusion criteria: * emergency physicians * critical care physicians * anesthesiologists * minimum 5 years of practice post-residency exclusion criteria: * post-call day of participation

Keywords: continuing medical education simulation non-technical skills crisis resource management
multi-centre observational registry on patients with implantable devices remotely monitored

Conditions: Defibrillators, Implantable; Heart Failure With Reduced Ejection Fraction; Arrythmia; Pacemaker

Summary: multicentric, observational, retrospective registry including patients underwent implantable device implantation (pacemaker or icd) for any indication in the period from 2009 to 2016, followed by remote monitoring. the aims of the registry are to evaluate the occurrence of atrial arrhythmias, of hospitalizations, and the mortality during a long-term follow-up.


Eligibility criteria:
inclusion criteria: * icd of pacemaker implantation fo any indication * followed by remote monitoring * age \>18 years exclusion criteria: * life expectancy of less than one year
aliskiren in combination with amlodipine in hypertensive patients not responding to angiotensin receptor blocker (arb) plus amlodipine

Conditions: Essential Hypertension

Summary: this study will assess the efficacy and safety of the single pill combination of aliskiren and amlodipine in patients with moderate hypertension not adequately responding to a single pill combination of olmesartan and amlodipine. further this study will also assess the efficacy and safety of a single pill combination of aliskiren, amlodipine and hydrochlorothiazide (hctz) in patients with moderate hypertension not adequately responding to a single pill combination of aliskiren and amlodipine.


Eligibility criteria:
inclusion criteria: * essential hypertension stage ii * male and female patients * age \>= 18 years old exclusion criteria: * severe hypertension (systolic bp \>= 180 mmhg, diastolic bp \>= 110 mmhg * poorly controlled diabetes mellitus or type 1 dm * history of myocardial infarction, stroke * presence of heart failure * other protocol-defined inclusion/exclusion criteria may apply

Keywords: hypertension aliskiren amlodipine
arterial stiffness in chronic kidney disease

Conditions: Chronic Kidney Disease

Summary: diurnal variations in the cardiovascular system apparent in healthy individuals, are different in chronic kidney disease patients. therefore, diurnal variations in arterial stiffness may also differ in chronic kidney disease patients. this study aims to identify and evaluate diurnal variations in arterial stiffness in chronic kidney disease patients and compare them to those in age matched healthy controls.


Eligibility criteria:
inclusion criteria: * systolic blood pressure \<160 whether or not on antihypertensive medication * diastolic blood pressure \<100mmhg whether or not on antihypertensive medication * chronic kidney disease stage 2-5 exclusion criteria: * systolic blood pressure ≥160mmhg * diastolic blood pressure ≥100mmhg * significant comorbidity (investigator opinion but to include alcoholism and terminal illness)
extracapsular arthroscopic treatment for refractory tennis elbow--mid-and-short term retrospective study of 50 cases

Conditions: Tennis Elbow

Summary: this study retrospectively analysed surgical outcomes of consecutive 50 cases to investigate the technical standard and clinical effect of extracapsular arthroscopic treatment for refractory tennis elbow.

to investigate the technical standard of extracapsular arthroscopic treatment for refractory tennis elbow. consecutive 50 cases of refractory tennis elbow from 50 patients who underwent extracapsular arthroscopic surgery which performed independently by the same doctor from march 2012 to november 2016 was retrospectively analyzed. the key points of technical standard were summarized, including debridement, decortication and microfracture, suture under arthroscopy and postoperative cast fixation. visual analogue scale(vas), mayo elbow performance score and disability of arm, shoulder, and hand outcome measure (dash) were evaluated for postoperative results. the effects of various technical points were analyzed by rank sum test, independent sample t test, χ2 test and multiple logistic regression.

Eligibility criteria:
inclusion criteria: 1. diagnosis was refractory tennis elbow; 2. standard extracapsular method was used for surgery. exclusion criteria: 1. patient had past history of joint infection, joint tuberculosis, or osteomyelitis, or the upper limb had undergone surgery within the past 6 months; 2. diagnosis was combined with severe heart, brain, kidney, or another organ dysfunction; 3. case was complicated with other serious elbow joint diseases or injuries; 4. patient did not sign the informed consent form.

Keywords: refractory tennis elbow arthroscopy intracapsular method extracapsular method surgical technology