Kornimate/medical-research-clean huggingface dataset:
whole exome sequencing in prenatal diagnosis of agenesis of the corpus callosum

Conditions: Fetal Agenesis of the Corpus Callosum (ACC)

Summary: agenesis of the corpus callosum (acc) is one of the most frequent cerebral malformations and is now diagnosed prenatally in most cases. prenatal counseling is then challenging because of uncertain neurodevelopmental outcome, depending on the genetic cause of acc. our purpose is to evaluate the feasibility of sequencing known genes responsible for acc by whole exome sequencing (wes) in trio (fetus and both parents) when acc is diagnosed during the pregnancy, in order to provide complete and loyal information on the intellectual prognosis for the fetus.

agenesis of the corpus callosum (acc) is one of the most frequent cerebral malformations. the neurodevelopmental outcome of patients with acc is extremely variable, ranging from normal intelligence to severe intellectual disability (id). when acc is discovered during the prenatal period, prenatal counseling is challenging because of this uncertain neurodevelopmental outcome. currently, only chromosomal analyses are performed in cases of prenatal diagnoses, which are expected to bring the diagnosis in only few cases. no molecular studies of genes implied in acc with or without id are performed. then, the couples are in the difficult situation of continuing or interrupting the pregnancy without complete information about the aetiology of acc. all patients will have a consultation with an obstetrician and consultations with a paediatric neurologist and a geneticist. the geneticist will explain wes and its issues. both parents will have to provide informed consent for the study.

Eligibility criteria:
inclusion criteria: * age ≥ 18 years old * acc diagnosed prenatally during the 2nd trimester of pregnancy, confirmed by ultrasound by a referee * fetal sample (amniotic fluid, 10 ml) et blood samples of both parents (2 tubes of 5 ml edta) * covered by social security * written consent obtain for routine and research genetic analysis exclusion criteria: * refusal to participate from one or both parents * pregnancies obtained with gamete donation (trio sequencing not feasible) * if one parent is not available (trio sequencing not feasible) * inability to understand the given information * one or both parents under juridical protection

Keywords: agenesis of the corpus callosum whole exome sequencing prenatal diagnosis
fitness integrative training for pediatric rheumatology disorders

Conditions: Juvenile Idiopathic Arthritis; Systemic Lupus Erythematosus of Childhood; Joint Hypermobility; Juvenile Dermatomyositis

Summary: this study evaluates the feasibility of the fitness integrative training program for teens (fit teens 2), a combined cognitive behavioral therapy and neuromuscular exercise training program in patients with pediatric rheumatic diseases and/or joint hypermobility.


Eligibility criteria:
inclusion criteria: * pediatric rheumatic diseases (prd) or joint hypermobility (jh) diagnosed by a pediatric rheumatologist or pain physician. * initial diagnosis ≥ 3 months ago * ages 10-19 years, inclusive * ongoing symptoms of musculoskeletal pain and/or fatigue for at least 3 months * functional disability index (fdi) score ≥ 13 indicating at least moderate disability. * child has written and spoken proficiency in english and parent has written and spoken proficiency in english or spanish (will have a certified bilingual provider or interpreter available) exclusion criteria: * untreated major psychiatric diagnoses (e.g., major depression, bipolar disorder, psychoses) or documented developmental delay. * any other medical condition determined by their physician to be a contraindication for exercise. * childhood myositis assessment scale (cmas) ≤ 30
hepex-b in post hepatic allografts for treatment of end stage liver disease due to hepatitis b infection

Conditions: Hepatitis B; Liver Transplantation

Summary: the purpose of this study is to compare the use of hepex-b versus hbig, two anti-viral drugs, in patients who have received liver transplants due to liver failure caused by hepatitis b infection. patients will be evaluated over a 6 month to 1.5 year period to evaluate whether or not the drugs prevent the hepatitis b virus from infecting the new liver.


Eligibility criteria:
inclusion criteria: * male and female patients who are 18 years of age or older, * patients who are at least 6 months post first orthotopic liver transplantation (living or cadaveric donor) for treatment of end-stage liver disease due to hbv infection, * patients who have received hbig since transplantation and are on a stable regimen (i.e., same dose and frequency) for at least the 3 months immediately preceding study entry (day 1), * patients who have received treatment with an inhibitor of hbv polymerase for at least the 3 months immediately preceding study entry (day 1), * patients with undetectable hbsag and hbv dna concentrations on two consecutive tests at least 1 week apart during the screening period, * female patients who are of childbearing potential, and males whose partners are women of childbearing potential, are required to use adequate contraception, and * patients who are able to provide written informed consent. * patients who successfully complete the initial 20-week treatment in the core trial are eligible for the 52-week extension phase. exclusion criteria: * women who are pregnant or breastfeeding, * patients who have received another organ transplant that requires immunosuppression, * patients who are co-infected with hepatitis delta virus (hdv), hepatitis c virus (hcv) and/or human immunodeficiency virus (hiv), * patients with clinical conditions or diseases, which, in the judgment of the investigator, would place the patient at undue risk, interfere with study participation, or confound the results of the study, and/or * patients who have participated in clinical studies in the 3 months prior to study entry.
trial of bms-986012 in combination with platinum and etoposide

Conditions: Small Cell Lung Cancer

Summary: the purpose of this this study is to administer bms-986012 in combination with platinum and etoposide as first-line therapy in extensive small cell lung cancer.


Eligibility criteria:
for more information regarding bristol-myers squibb clinical trial participation, please visit www.bmsstudyconnect.com inclusion criteria: * male and females 18 years of age or older * pulmonary sclc documented by histology or cytology * extensive disease (stage iv) sclc * eastern cooperative oncology group (ecog) performance status 0 or 1 exclusion criteria: * prior systemic therapy for lung cancer * symptomatic brain metastases * grade 2 peripheral neuropathy * active or chronic infection with human immunodeficiency virus (hiv), hepatitis b virus (hbv), or hepatitis c virus (hcv * other active malignancies or prior malignancy within 2 years other protocol defined inclusion/exclusion criteria could apply
the biopres trial: transrectal biopsies of the prostate: end versus side-firing

Conditions: Prostate Cancer

Summary: the purpose of this study is to study the difference in prostate cancer between two prostate biopsy techniques, namely end-firing and side-firing. these differ in the angle at which the prostate is biopsied.

rationale: research towards the efficacy of transrectal prostate biopsies has predominantly focused on the amount of biopsy cores. however, variation in the angle of entrance of the biopsy gun has been less studied. it is believed that obtaining biopsy cores by end firing will improve the efficacy, because of an improved sampling of the apical region. objectives: to investigate the difference between side and end-firing in transrectal prostate needle biopsies in terms of qualitative and quantitative prostate cancer detection. methods: from september 1st 2009 - september 1st 2012, all men with an initial prostate biopsy in a representative, dutch, general hospital with six participating urologists and two residents will be subjected to a randomized controlled, single blind, single center, diagnostics trial. men will be randomized for a biopsy using an end-firing or a side-firing probe. the primary endpoint is the prostate cancer detection rate; secondary endpoints are the number of cores invaded with prostate cancer, nomogram for indolent cancer-score, gleason score, complications and biopsy length. expected outcomes: we hypothesize that no differences between the biopsy techniques exist.

Eligibility criteria:
inclusion criteria: * psa and dre performed in advance of the biopsy * informed consent * number of biopsy cores according to the volume dependent biopsy protocol (8 cores in prostates with a volume less than 40 ml., 10 in 40-60 ml. and 12 in \>60 ml.) exclusion criteria: * none

Keywords: prostate cancer biopsy trus diagnosis
efficacy of point-of-care creatinine assays in patients with egfr <30 receiving intravascular contrast

Conditions: Renal Insufficiency; Acute Kidney Injury; Contrast-induced Nephropathy

Summary: point-of-care (poc) creatinine devices allow rapid measurement of creatinine levels and calculation of estimated glomerular filtration rate (egfr) which give an indication of renal function. the focus of this assessment is to validate poc measurements to assess kidney function before intravascular iodinated contrast administration in patients with severe renal insufficiency (egfr \< 30 ml/min/1.73m2). it will be evaluated whether discrepancies between poc measurement values and values obtained from standard laboratory assays lie within an acceptable range using bland-altman analysis.

measurement of creatinine to determine egfr before intravascular iodinated contrast administration is indicated to assess whether a patient is at risk of contrast-induced acute kidney injury (aki). for patients with reduced egfr intravenous hydration can be offered before the scan to reduce the risk of aki. if no recent egfr measurement is available, contrast procedures could be cancelled and rescheduled while a creatinine test is processed in the laboratory. using poc creatinine tests before contrast-enhanced procedures could minimise the risk of kidney injury, and may reduce the number of cancelled scans. the question is whether poc creatinine assay is accurate and beneficial in this setting compared to the standard laboratory assay. the i-stat alinity poc creatinine device is one of three devices which calculate estimated glomerular filtration rate (egfr) recommended in clinical practice guidelines to assess kidney function to guide decisions on the use of intravascular iodinated contrast in adults. in the study, i-stat alinity poc measurements of creatinine will be performed using already available blood samples of patients with estimated egfr\<30 ml/min/1.73m2 and mean difference between egfr and serum creatinine measurements using poc and standard laboratory assays will be calculated. results will be used to evaluate the agreement between of poc and laboratory assays on risk stratification (i.e., the percentage of patients with egfr\<30 according to both laboratory and poc assays) and post-contrast acute kidney injury (aki; i.e., the percentage of patients with post-contrast acute kidney injury according to both laboratory and poc assays). finally, the number of elective procedures which are delayed (including delayed planning) or cancelled because a serum creatinine assay is required and unavailable will be prospectively evaluated for maastricht umc+ in this study.

Eligibility criteria:
inclusion criteria: * standard care venous blood samples for which egfr measurement at maastricht umc+ central diagnostic laboratory results in a value below 30 ml/min/1.73m2 (including all standard care venous blood samples from patients with gfr \<30 ml/min/1.73m2 referred for an elective procedure with intravascular iodinated contrast at maastricht umc+) exclusion criteria: -
optical tomography in prostate cancer

Conditions: Prostate Cancer

Summary: this study is looking to see if a new device, diffuse optical tomography (dot), can detect prostate cancer. the investigators will also see if dot can tell the difference between high risk and low risk prostate cancers.

while some of these tools have helped to guide therapy in patients with prostate cancer, they are imperfect and as a result many men undergo unnecessary treatment for a disease that would not have caused their deaths. an improved method to risk stratify men with prostate cancer prior to definitive therapy may reduce the over-treatment rate, while maintaining or improving mortality. diffuse optical tomography (dot) is a novel imaging modality that uses low-intensity, near-infrared light to characterize tissue. dot analyzes the light being reflected and transmitted through tissue to generate three-dimensional images of chromophores and light scattering. as such, dot serves as a functional imaging modality, measuring both tissue vascularity and architecture. the investigators believe that dot will be able to detect prostate cancer in men suspected of the disease and will also be able to risk-stratify patients found to have prostate cancer to help guide treatment options. dot may be able to directly measure two factors important in the prognosis of patients with prostate cancer: the gleason score and microvessel density (mvd).

Eligibility criteria:
inclusion criteria: * men 18 years of age or older scheduled for transrectal prostate biopsy or radical prostatectomy at columbia university medical center * signing consent for study imaging procedure and analysis of prostate biopsy exclusion criteria: * patients failing to meet the inclusion criteria * contraindication for magnetic resonance imaging

Keywords: diffuse optical tomography
dosimetry, safety and potential benefit of 177lu-psma-617 prior to prostatectomy

Conditions: Prostatic Neoplasms

Summary: this clinical trial will evaluate the dosimetry, efficacy and toxicity of lu-psma in men with high psma-expressing high-risk localized or locoregional advanced prostate cancer (hrcap) undergoing radical prostatectomy (rp) and pelvic lymph node dissection (plnd)

this open label, phase i/ii non-randomised clinical trial will evaluate the dosimetry, efficacy and toxicity of lu-psma in men with high psma-expressing high-risk localized or locoregional advanced prostate cancer (hrcap) undergoing radical prostatectomy (rp) and pelvic lymph node dissection (plnd). patients will receive one or two cycles of 177lu-psma followed by surgery. the primary objective is to determine the radiation absorbed dose in the prostate and involved lymph nodes. secondary objectives include evaluating imaging response to therapy using psma-pet, biochemical response, pathological response, adverse effects of lu-psma and surgical safety, and health-related quality of life (qol).

Eligibility criteria:
inclusion criteria: * patient has provided written informed consent. * male patient aged 18 or over at the time of screening * histologically confirmed adenocarcinoma of the prostate, in a patient scheduled for rp and plnd with curative intent * high or high-intermediate risk localised or locoregional prostate cancer (hrcap) by european association of urology (eau) criteria, including any of the following: * psa \> 20 ng/ml * isup grade group 3-5 * clinical t-stage by digital rectal examination (dre) of t2c or higher * n1 disease (involvement of lymph nodes at or below the bifurcation of the common iliac arteries) * defined radiologically (ct/ mri, or psma pet). * high psma avidity on 68ga-psma pet/ct, defined as an suvmax of ≥ 20 * normal baseline haematological function; haemoglobin 13.5-17.5g/dl), total white blood cell count (4-11 x 109/l), platelets (150-400 x 109/l), neutrophils (2-7.5 x 109/l) and lymphocytes (1-4 x 109/l) * normal baseline serum biochemistry; sodium 135-145 nmol/l, potassium 3.5-5 nmol/l, chloride 98-108 nmol/l, urea 3-9.2 nmol/l, creatinine 60-120μmol/l * willing and able to comply with all study requirements including all treatments and required assessments including follow up exclusion criteria: * prostate cancer with significant neuroendocrine or other rare variant pathology * prior treatment for prostate cancer including radiotherapy and/or androgen deprivation therapy. * evidence of metastatic disease involving bone, viscera, or lymph nodes superior to the common iliac bifurcation based on ct, mri, wbbs or psma pet/ct. * renal impairment \[gfr \< 60ml/min\]. * sjogren's syndrome. * a history of or current evidence of any condition, therapy, or laboratory abnormality that might confound the results of the trial, interfere with the patient's participation for the full duration of the trial, or is not in the best interest of the patient to participate, in the opinion of the treating investigator.

Keywords: 177lu-psma prostate cancer radionuclide therapy theranostics prostate specific membrane antigen
the effects of a regenerative mitochondrial medication on physiological parameters in case of diabetes mellitus type ii

Conditions: Diabetes Mellitus, Type II

Summary: a treatment with the concept of mitochondrial medication developed by dr heinrich kremer can demonstrably improve and successfully treat actual parameters of diabetes mellitus ii as well as its risk factors.


Eligibility criteria:
inclusion criteria: * men and women between the ages of 18 and 60 * recently diagnosed diabetes type ii (within the last 12 months) exclusion criteria: * no orally-taken medication up to present * no insulin therapy * no diseases resulting from diabetes like nephropathy, neuropathy, angiopathy or retinopathy * fasting blood sugar values in the morning under 200mmol * sufficient production of insulin

Keywords: diabetes
dna methylation trajectories in aging

Conditions: Heart Failure; Aging

Summary: the goal of this observational study is to profile changes in dna methylation of circulating cd4+ t and cd8+ t cells from healthy young to aged with diagnosis of hfpef, a particular phenotype of hf which is highly prevalent in aging. the main question it aims to answer is: -do dna methylation biomarkers help us to understand the role of inflammation in hfpef during aging? our goal is to provide a simple large-scale panel of epigenetic-sensitive biomarkers useful in aged patients with hf in the early natural history of the disease (hfpef).


Eligibility criteria:
inclusion criteria: * healthy subjects aged between 18 and 40 years * aged subjects (≥65) without signs and symptoms of heart failure * aged subjects (≥65) with diagnosis of heart failure with preserved ejection fraction (ef major than 50%) exclusion criteria: * heart failure with reduced ejection fraction (ef minor than 40%) * heart failure with mildly reduced ef (hfmref) (ef 41-49%) * history or diagnosis of cancer and inflammatory diseases
study of phenotypic and functional characteristics of regulatory t lymphocytes in horton's disease

Conditions: Horton's Disease

Summary: giant cell arteritis (gca) is the most frequent vascularitis after 50 years of age the investigators recently showed that gca was accompanied by an elevation in th1 and th17 response \[1\]. even though a quantitative deficit in regulatory tl (treg) was shown, there are to date no data concerning their precise phenotypic and functional characteristics and notably their ability to inhibit th1 and th17 polarisation. the hypothesis of the investigator is that, in gca, there is quantitative and above all functional deficit of treg. recently, progress has been made in the identification of treg with new markers (cd39), which will make it possible to better identify and to study their specific functions. in this study the phenotypic and functional characteristics of treg in gca will be analysed. better understanding of the role des treg in gca should lead to better-targeted treatments for patients with gca, notably via the blockage of cytokines that inhibit the differentiation and/or function of treg. the study is classified interventional because a lot of blood samples are taken.


Eligibility criteria:
inclusion criteria: patients * patients who have provided written consent * patients with national health insurance cover * age \> 50 years * patients with a diagnosis of horton's disease, before any treatment horton's disease is defined by the american college rheumatology acr criteria \[2\], as the association of 3 of the following 5 criteria: * age at disease onset 50 years or older * recent onset localized headache * indurated temporal artery or diminished/abolition of temporal pulse * erythrocyte sedimentation rate (esr) greater than 50 mm during the first hour (or c reactive protein (crp)\>20 mg/l) * positive temporal artery biopsy (tab) showing vascularitis with infiltration by mononuclear cells or granulomatous inflammation with or without giant cells. control subjects control subjects will be healthy volunteers recruited among blood donors at dijon university hospital, voluntary hospital personnel (nurses, doctors, laboratory technicians and secretaries) and patients without infectious, inflammatory or auto-immune diseases or cancer (crp\<5mg/l) recruited in the investigating departments of dijon hospital. they will be matched for age and sex and must meet the following criteria: * age \> 50 years * patients with national health insurance cover * signed written informed consent form * absence of an inflammatory syndrome (crp\<5 mg /l) exclusion criteria: * adult under guardianship * persons without national health insurance cover * pregnant or breast-feeding women * patients treated with corticoids or immunosuppressants in the month preceding inclusion * patients treated with chemotherapy
postural garment versus exercises for women with cervical pain

Conditions: Posture; Cervical Pain

Summary: this study aim to compare a new postural garment (posture plus force ®) versus exercises in women with non specific cervical pain. the investigators focus on nurses and allied health professionals due to the importance of posture in work related musculoskeletal disorders.

objective: to investigate the effects of a postural garment versus exercises in nurses with non-specific cervical pain. design: randomized cross over clinical trial with a 3 months sequence treatment and a 3 months washout period.. participants: nurses and allied health professionals with cervical pain aged 21 to 55 years. interventions: participants are allocated at random to receive interventions in two groups: * p+ : a postural garment (posture plus force - fgp srl ® - italy) to be worn from 2 to 4 hours per day, during 90 days. * ex: five physiotherapy sessions to learn stretching and strengthening exercises (20 minutes) with instructions to continue at home on a daily basis for 90 days. the subjects in each group will be cross over after three months of wash out period. main outcome measures: the primary outcomes are postural control and pain intensity. pictures on sagittal and frontal plane as well as measurements of static posturography with a scan (spinalmouse ®) are conducted at t0 (pre-intervention), t1 immediately after garment fitting for p+ group and after the 5th session for ex group, t30, t60 and t90 at day 30, day 60 and day 90 of follow-up. pain is measured by visual analogue scale (vas) on the same assessment days. statistical analysis: statistical analysis is conducted following intention-to-treat principles, and the treatment effects calculated using linear mixed models.

Eligibility criteria:
inclusion criteria: * nurses and health allied professionals females with cervical pain * voluntarily signed informed consent * able to wear the garment and to do exercises and follow up assessments exclusion criteria: * pregnancy * malignancy or other severe disease * cervical pain with significant extremity symptoms and/or neurological dysfunction (cervical radiculopathy and cervical spondylotic myelopathy) * unable to perform exercises * unwilling to do follow up assessments * psychiatric disorders

Keywords: posture cervical pain exercise