Kornimate/medical-research-clean huggingface dataset:
exome sequencing in medullary sponge kidney

Conditions: Medulary Sponge Kidney

Summary: medullary sponge kidney is a rare, underdiagnosed renal pathology, characterized by precalyceal dilatation of the renal tubes associated with active and recurrent stone disease with nephrocalcinosis, hypercalciuria and tubular dysfunction with, for example, acidification and urinary concentration defects. the pathophysiology is poorly understood the prevalence and etiopathogenesis of the disease is not known medullary sponge kidney is often characterized as a congenital pathology with delayed expression due to reported cases occurring in early childhood and associations with other congenital renal and extra-renal malformative pathologies, such as wilms tumors, horseshoe kidney, contralateral renal hypoplasia, beckwith-wiedemann syndrome, caroli disease, or congenital hepatic fibrosis, for example. however, no clear demonstration of the congenital nature has been established so far, and it is considered a sporadic disease. however familial cases have been reported with an autosomal dominant mode. the pathophysiology may involve disruptions in renal organogenesis, which depends on reciprocal inductive interactions necessary to coordinate nephrogenesis between the ureteric bud and the metanephric blastema during the 5th week of embryonic development. some authors suggested that the gdnf and ret genes may be involved in the physiopathology of the disease. for instance 12% of heterozygous patients for rare gdnf variants were identified in an italian cohort of 57 medullary sponge kidney patients. other genes have been suggested to be involved in the pathophysiology based on reported cases, with no direct relationship demonstrated and their role remain putative medullary sponge kidney disease is a debilitating condition, with the main symptoms being recurrent kidney stones and urinary infections. additional data are needed to determine the involvement of genetic anomalies in the pathophysiology of the condition. the aim of the study is to describe the genetic variants identified with exome sequencing in medullary sponge kidney patients, in order to optimize management, especially for familial forms, and therapeutic interventions.


Eligibility criteria:
inclusion criteria: * medullary sponge kidney attending medical consultation * consent signed * affiliated to social insurance scheme exclusion criteria: * legal protection measure (guardianship, curatorship) * deprived of liberty by a judicial or administrative decision * subject participating in another research including an exclusion period still in progress at inclusion

Keywords: exome nephrolithiasis medullary sponge kidney
safety follow-up of treatment with remestemcel-l in pediatric participants who have failed to respond to steroid treatment for acute gvhd

Conditions: Grade B Acute Graft Versus Host Disease; Grade C Acute Graft Versus Host Disease; Grade D Acute Graft Versus Host Disease

Summary: ongoing safety assessment follow-up to protocol msb-gvhd001 (nct02336230) of remestemcel-l treatment in pediatric participants with acute graft versus host disease (agvhd), following allogeneic hematopoietic stem cell transplant (hsct), that have failed to respond to treatment with systemic corticosteroid therapy.

this is a safety follow-up study through 180 days of remestemcel-l treatment in participants who took part in msb-gvhd001. this study will also explore duration of response over time. participants who took part in in msb-gvhd001 and received at least one dose of remestemcel-l as outlined in that protocol will be evaluated at baseline (day 100) and at days 120, 140, 160 and 180 for safety endpoints. participants who took part in protocol msb-gvhd001 and received the first 8 doses of remestemcel-l as outlined in that protocol will be evaluated at baseline (day 100) and at days 120, 140, 160 and 180 after initial remestemcel-l infusion for evidence of duration of response over time.

Eligibility criteria:
inclusion criteria: * participants must have participated in msb-gvhd001 and have received at least one infusion of remestemcel-l. * participant or participant's authorized representative must be capable of providing written informed consent. assent, if applicable, must also be collected when required by the institutional review board (irb)/ethics committee (ec). * female participants of childbearing potential (≥ 10 years of age) must use a medically accepted method of contraception and must agree to continue use of this method for the duration of the study and for the follow-up time period. acceptable methods of contraception include abstinence, barrier method with spermicide, intrauterine device (iud), or steroidal contraceptive (oral, transdermal, implanted, and injected) in conjunction with a barrier method. * the participant must be willing and able to comply with study procedures, remain at the clinic as required during the study period, and return to the clinic for the follow-up evaluation as specified in this protocol. exclusion criteria: * the investigator believes it to be in the best interest of the participant not to participate in the safety follow-up study. * participant has participated or is currently participating in any autologous or allogeneic stem cell or gene therapy study for the treatment of agvhd. participants participating in investigative protocols aimed at modification of the transplant graft (such as t cell depletion) or aimed at modification of the conditioning regimen will be allowed in the study.

Keywords: gvhd
radial extracorporeal shock wave therapy (reswt) treatment of subacromial shoulder pain

Conditions: Shoulder Impingement Syndrome; Subacromial Shoulder Pain

Summary: the purpose of this study is to determine whether reswt (radial extracorporeal shock wave therapy) combined with supervised exercises will improve function and reduce pain in subacromial shoulder pain compared with supervised exercises alone.


Eligibility criteria:
inclusion criteria: * dysfunction or pain on abduction * pain on one of two isometric tests (abduction or external rotation) * positive hawkins sign * normal passive glenohumeral range of motion exclusion criteria: * previous surgery on affected shoulder * instability * total rupture of the rotator cuff (evaluated clinically or by us) * clinical signs of a cervical syndrome * infection in the area * exclusion criteria cont. * patients considered unable to fill out questionnaires or to go through the treatment * use of anticoagulant drugs or bleeding disorder * pregnancy * previous experience of one of the study interventions * corticosteroid injection in the past 6 weeks. * spadi \< 20

Keywords: shoulder subacromial impingement tendinopathy reswt shock wave eswt rswt
the diagnosis and treatment system of transesophageal echocardiography in icu

Conditions: Critically Ill

Summary: transesophageal ultrasound offers imaging through the esophagus on the surface of the heart, with good image quality and unique advantages. however, no studies to date have examined its effect in critically ill patients in china.therefore, the investigators aimed to compare the efficacy and safety of tee with tte. the investigators will conducte a multi-center, prospective observational control study enrolling critically ill adult patients in several icu in china .

patients in icu were assessed for the need for tee by trained researcher. eligible patients would be conducted tee examination by researcher a, tte by the researcher b ,at the same time, researcher c records the basic condition and clinical data of patientsand carried out micro-enlargement test.the examination results are judged by a and b respectively and provided to the physician of this patient, and a return visit to the physician wold be conducted by researcher d to evaluate the acceptance of tte and tee results and judge the clinical effects. the primary outcome is the clinical effects.

Eligibility criteria:
inclusion criteria: 1. the quality of transthoracic echocardiography is poor ( \>3 sections cannot be obtained or the inner membrane is not clear) 2. the diagnosis of the etiology by transthoracic ultrasonography is still unclear 3. the results of transthoracic ultrasonography are inconsistent with clinical judgment or cannot explain the existing signs. 4. no obvious improvement or even aggravation after thoracic examination and corresponding treatment 5. special conditions or clinical scenarios 6. other clinicians think a tee check is required. exclusion criteria: 1. there is a tee test taboo and clinicians evaluate the risk over benefit 2. did not sign an informed consent form

Keywords: transesophageal echocardiography intensive care unit
improving cognition in schizophrenia using non-invasive brain stimulation

Conditions: Schizophrenia

Summary: this is a double-blind sham-controlled study to evaluate the effects of the combination of non-invasive brain stimulation, i.e. transcranial direct current stimulation (tdcs), with brief cognitive training (ct) on cognition in patients with schizophrenia. all participants will practice the same cognitive training tasks and will be randomised to either real tdcs or sham stimulation. patients with schizophrenia will undergo the study interventions while maintaining their standard treatment with antipsychotic medications.


Eligibility criteria:
inclusion criteria: * dsm-iv diagnosis of schizophrenia or schizoaffective disorder * treatment with stable doses of antipsychotic medications. for the purpose of this study stability is defined as a not more than 50% change in the dose of their antipsychotic medication 3 months preceding the screening visit. * age between 18 and 55 years * written and witnessed informed consent * participants must read and write in english at a level sufficient to understand and complete study-related procedures exclusion criteria: dsm-iv diagnosis of alcohol or drug dependence in the 6 months, current treatment with benzodiazepines or hypnotics * current or past skin disease * history of a neurological disorder or a systemic illness with known neurological complications; including epilepsy * history of seizures * head injury, accompanied with loss of consciousness or/and required hospitalization * unwillingness or inability to follow or comply with the procedures outlined in the protocol
functional and metabolic changes in the course of antidepressive treatment

Conditions: Major Depressive Disorder

Summary: the study will investigate functional and metabolic changes in the course of antidepressive treatments. the investigators will apply different imaging methods to investigate the effects of antidepressive interventions on resting state neural activity, functional activation during cognitive and emotional stimulation, neurotransmitter concentrations as well as concentrations of brain- derived neurotrophic factor.

the study will investigate functional and metabolic changes in the course of antidepressive treatments. the investigators will apply different imaging methods to investigate the effects of antidepressive interventions on resting state neural activity, functional activiation during cognitive and emotional stimulation, neurotransmitter concentrations as well as concentrations of brain- derived neurotrophic factor. the investigators hypothesize that antidepressive interventions modulate the excitatory glutamatergic system and thereby increase either the concentration of glutamate or the glutamate/ glutamine ratio. these metabolic changes are accompanied by altered functional activation in medial and lateral prefrontal areas during emotional and cognitive stimulation, respectively. after longterm treatment, excitatory glutamate and inhibitory gamma-aminobutyric acid concentrations adapt to a new homeostatic level which is reflected in antidepressive response or remission of symptoms. the investigators assume that the levels of glutamate and gamma-aminobutyric acid determine the amplitude of bold responses during emotional and cognitive stimulation. furthermore, the investigators hypothesize that the plasma concentration of brain- derived neurotrophic factor might be a predictor for therapy response and changes in the course of treatment. with our protocol we adhere to the rules of good scientific practice and observe all relevant laws, regulations and guidelines that pertain to the project. the investigators' study is in compliance with the declaration of helsinki and approved by the local ethics committee. storage of data is in accordance with german privacy laws.

Eligibility criteria:
inclusion criteria: * age 18- 65 years * current depressive episode * males and females * intelligence quotient \> 80 * written informed consent exclusion criteria: * neurological or psychiatric disease other than major depressive disorder * metal implants, pacemaker, intracranial clips * agoraphobia * history of serious head injury
bone metastasis and surgery in breast cancer

Conditions: Breast Cancer; Surgery

Summary: a registry trial evaluating resection of the primary breast tumor in women presenting with de novo stage iv breast cancer with bone metastasis only. previous reports of carefully selected patients presenting with stage iv breast cancer suggest that surgery on the primary tumor may result in improved survival, but this remains unproven. the early results of our ongoing trial mf07-01 trial (a phase iii randomized controlled trial of breast cancer women with distant metastases at presentation who receive loco-regional treatment for intact primary tumor compared with those who do not receive such treatment) showed that patients with bone metastasis only have a trend toward improved survival with initial surgery.

this registry trial evaluating resection of the primary breast tumor in women presenting with de novo stage iv breast cancer with bone metastasis only. previous reports of carefully selected patients presenting with stage iv breast cancer suggest that surgery on the primary tumor may result in improved survival, but this remains unproven. the early results of our ongoing trial mf07-01 trial (a phase iii randomized controlled trial of breast cancer women with distant metastases at presentation who receive loco-regional treatment for intact primary tumor compared with those who do not receive such treatment) showed that patients with bone metastasis only have a trend toward improved survival with initial surgery. our goal is to test if primary surgery improves overall survival in bone only metastasis.

Eligibility criteria:
inclusion criteria: * primary breast tumor amenable for complete surgical resection * patients in good physical condition for receiving protocol driven locoregional and systemic treatment * patients eligible for sentinel lymph node (sln) biopsy and receiving radiotherapy. exclusion criteria: * primary tumor not amenable for complete resection (such as tumor extending to neighboring tissues; t4a,c or inflammatory breast cancer; t4d) * primary tumor with extended infection, bleeding, or necrosis * patients with poor physical condition which prevents the patient from receiving protocol driven locoregional and systemic treatment * synchronous primary cancer at the contralateral breast * previous diagnosis of other cancers (excluding basal cell skin cancer * squamous cell skin cancer * cervical intraepithelial neoplasia) * clinically involved contralateral axillary nodes * patients not suitable for adequate follow-up * failure to give informed consent

Keywords: metastatic breast carcer bone metastasis surgery
zoledronic acid for the prevention of tdf-sparing art-induced bone mass density loss in treatment-naive hiv positive individuals

Conditions: HIV Infected Individuals; Osteopenia

Summary: the goal of this clinical trial is to learn if zolendric acid can prevent the anticipated deterioration of bone mass after antiviral treatment initiation for people that were recently diagnosed with hiv. the main questions it aims to answer are: 1. is bone mass deterioration is significant even with the new medication currently used to treat hiv? 2. can one dose of zolendric acid protect from deterioration of bone mass. researchers will compare one dose of zolendric acid to follow-up only participant will: 1. provide blood samples for bone markers before antiviral treatment initiation and at 6m,12m,24m and 48m after treatment initiation 2. perform dxa scan soon after antiviral treatment initiation and after 12m ,24 m and 48 months 3. half of the patients with moderate reduction in bone mass will be treated with one dose of zolendric acid in the clinical trial, the other participants will be followed without intervention. 4. patients with substantial osteoporosis will be treated according to standard of care by their hmo, but will continue followup in the study.


Eligibility criteria:
inclusion criteria: * adults over age of 18 years old of any gender, social, religious or racial background. * confirmed positive result for hiv infection. exclusion criteria: patients who received previous pharmacological agents for the prevention of hiv infection. * women who are pregnant, lactating or those who plan to become pregnant within the trial timeframe. * past history of severe drug-induced reaction (including atypical femur fractures or osteonecrosis of the jaw) or documented hypersensitivity to a bisphosphanate agent. * patients with untreated hypocalcemia at screening. * severe dental status

Keywords: osteopenia zoledronic acid hiv naïve
standardized application of high frequency oscillatory ventilation in the acute respiratory distress syndrome (ards)

Conditions: Acute Respiratory Distress Syndrome

Summary: the acute respiratory distress syndrome (ards) is a clinical syndrome of progressive dyspnea and refractory hypoxemia caused by various reasons. although in recent years a variety of supportive care measures have significant progress, but the mortality rate of patients with ards is still as high as 35-40%. mechanical ventilation is one of the main treatments with ards, which is widely used in clinical. the rational mechanical ventilation strategy can improve the oxygenation of patients with ards and reduce lung injury. patients with ards usually have alveolar epithelial and pulmonary capillary endothelial injury, and the lesion has heterogeneity. the protective mechanical ventilation strategies chosen by patients with ards in clinical practice are gradually being accepted and applied. the high-frequency oscillatory ventilation (hfov) is a ventilation way with high respiratory rate and low tidal volume. compared with conventional mechanical ventilation, hfov may be able to more effectively improve oxygenation and reduce ventilator-associated lung injury. hfov and protective ventilation strategy in ards is consistent with an important position in the treatment of ards, but not been widely adopted in clinical practice and is still only as a salvage treatment. therefore, this study intends to use hfov treatment with conventional mechanical ventilation by matching the cases in patients with ards. by comparing the influences of the patient's condition and mortality with hfov, the clinical efficacy, safety, and health economics effectiveness of hfov are further investigated and adaption time and parameter settings of hfov are explored, which provide better treatment options for patients with ards and improve their prognosis.


Eligibility criteria:
inclusion criteria: * age\> 18 years; * lung protective ventilation (tidal volume 4-6ml/kg), airway plateau pressure is still higher than 30cmh2o, or the failure of conventional mechanical ventilation pneumothorax, bronchopleural fistula in patients with ards; of ards diagnosis in line with the 2012 berlin ards diagnostic criteria. * be able to sign informed consent. exclusion criteria: * severe pulmonary hemorrhage; * severe intracranial high pressure; * large airway stenosis and airway obstruction.

Keywords: clinical efficacy safety of hfov treatment of patients
european deep brain stimulation (dbs) depression study

Conditions: Depressive Disorder, Major

Summary: to evaluate the effects of two different programming settings of deep brain stimulation (dbs) in the subgenual white matter (brodmann area 25 wm) as an adjunctive treatment for treatment resistant major depressive disorder (tr-mdd), single or recurrent episode on mood as measured by the madrs.

the european study was a prospective, multicenter, double-blind, randomized study comparing high frequency stimulation (130 hz) to low frequency stimulation (20 hz). subjects underwent 2 baseline evaluations by 2 separate psychiatrists and were implanted with the libra dbs system. subjects were randomized to receive either high or low frequency stimulation. the primary endpoint was evaluated after 6 months of stimulation.

Eligibility criteria:
inclusion criteria: * men and women (non-pregnant) age is 21-70 years; * diagnosed with non-psychotic major depressive disorder, single or recurrent episode by diagnostic and statistical manual of mental disorders - fourth edition, text revision, 2000 (dsm-iv-tr) criteria derived from the mini international neuropsychiatric interview (mini); * first episode onset before age 45; * current episode \> 12 month duration; * in the current episode: documented resistance to a minimum of 4 adequate depression treatments from at least 3 different categories; * in adult lifetime (\>21 year of age) have experience a period of wellness as defined by dsm iv criteria; * madrs score ≥22 at 2 separate baseline visits, rated by 2 separate psychiatrists; * global assessment of functioning (gaf) score \<50; * mini-mental state examination (mmse) score \>24; * no change in current antidepressant medication regimen or medication free for at least 4 weeks prior to study entry; * able to give informed consent in accordance with institutional policies; exclusion criteria: * a diagnosis of bipolar i or bipolar ii disorder by dsm-iv-tr criteria, derived from the mini; * meets criteria for borderline or antisocial personality disorder in the last 12 months by dsm-iv-tr criteria, derived from the cluster b personality disorders sections 301.7 - 301.83, preferably screened via structured clinical interview for dsm-iv personality disorders (scid-ii) at baseline visit (optional); * in the current depressive episode, has been diagnosed with general anxiety disorder (gad) - as defined by the dsm-iv-tr, and gad is the primary diagnosis;

Keywords: depressive disorder unipolar implantable stimulation electrodes