Kornimate/medical-research-clean huggingface dataset:
linkage study in familial pulmonary fibrosis

Conditions: Pulmonary Fibrosis; Lung Diseases; Lung Diseases, Interstitial

Summary: to map the gene (or genes) for familial pulmonary fibrosis.

background: familial pulmonary fibrosis (fpf) is a rare, progressive, life-threatening disease. although far from definitive, several lines of evidence suggest that it could involve genetic susceptibility and that its expression may be modified gene-environment interactions involving exposure to fibrogenic dusts. if the specific gene loci involved can be identified and their functions characterized, these studies could lead to a better understanding of the etiology of the disease and effective intervention strategies among families at increased risk. it is conceivable that the genetically influenced pathologic mechanisms involved may be shared with other, more common forms of pulmonary fibrosis such as idiopathic pulmonary fibrosis (ipf) or asbestosis. thus, these studies could lead to the early identification of individuals susceptible to reversible interstitial lung disease and to the development of novel therapeutic approaches. familial pulmonary fibrosis is indistinguishable pathologically from idiopathic pulmonary fibrosis and appears to be inherited as an autosomal dominant trait with variable penetrance; pulmonary fibrosis is associated with pleiotropic genetic disorders, such as hermansky-pudlak syndrome, neurofibromatosis, tuberous sclerosis, neimann-pick disease, gaucher's disease, and familial hypocalciuric hypercalcemia; pulmonary fibrosis is frequently observed in autoimmune disease, including rheumatoid arthritis and systemic sclerosis; variable susceptibility is evident among workers who are reported to be exposed occupationally to similar concentrations of fibrogenic dusts; and inbred strains of mice differ in their susceptibility to fibrogenic dust. design narrative: the study uses standard genetic methodology (linkage analysis) to investigate the distribution of polymorphisms for anonymous genetic markers in families with familial pulmonary fibrosis. the comprehensive genome-wide study, using standard genetic markers, will allow identification of loci which subsequently may prove to contain novel genes that play a role in the pathogenesis of pulmonary fibrosis. once genetic loci are defined in familial pulmonary fibrosis, candidate genes can be identified on the basis of both positional and functional criteria. moreover, this approach will provide basic information on high priority loci that will be applicable to the rapidly evolving dense human transcript map for pulmonary fibrosis in families with two or more cases of pulmonary fibrosis. the study completion date listed in this record was obtained from the "end date" entered in the protocol registration and results system (prs) record.

Eligibility criteria:
no eligibility criteria
feasibility of opportunistic salpingectomy at the time of vaginal hysterectomy for benign pathology

Conditions: Salpingectomy; Hysterectomy

Summary: in this prospective study, patients who underwent vaginal hysterectomy with salpingectomy or salpingo-oophorectomy were included. the objective of this study is to assess the feasibility of prophylactic salpingectomy during vaginal hysterectomy for benign pathology and the prevalence of occult tubal lesions. the hypothesis is that prophylactic salpingectomy during vaginal hysterectomy for benign pathology present a low failure rate and it makes it possible to avoid the appearance of a certain number of ovarian cancers. the prevalence of bilateral salpingectomy with or without ovariectomy and the prevalence of histopathological and immunohistochemical (p53 expression) abnormalities were evaluated.


Eligibility criteria:
inclusion criteria: * patients who underwent vaginal hysterectomy for benign pathology with salpingectomy or salpingo-oophorectomy

Keywords: prophylactic salpingectomy vaginal hysterectomy p53 expression ovarian cancers
effectiveness of silver diamine fluoride as cavity disinfectant after atraumatic restorative treatment in primary teeth

Conditions: Dental Caries

Summary: the purpose of this study is to evaluate the effectiveness of silver diamine fluoride (sdf) compared to chlorhexidine (chx) as a cavity disinfectant in primary molars after atraumatic restorative treatment approach (art).

this study is a three arm randomized controlled clinical trial, where children with an age range of 4-6 years indicated for atraumatic restorative treatment (art) are selected from the outpatient clinic of pediatric dentistry and public health department, faculty of dentistry, alexandria university after securing necessary consents. sixty teeth are randomly allocated into 3 groups of atraumatic restorative treatment approaches. group i is assigned to silver diamine fluoride as an antibacterial agent, group ii is assigned to chlorhexidine as an antibacterial agent, and group iii serves as a negative control.

Eligibility criteria:
inclusion criteria: * children free of any systemic disease or special health care needs. * class i cavity involving dentin in primary molars. * lesion wide enough to allow access of instruments. * informed consent fulfilled. exclusion criteria: * signs of irreversible pulpitis or pulp necrosis. * patients allergic to silver products.

Keywords: atraumatic restorative treatment chlorhexidine silver diamine fluoride primary teeth
fluoxetine in kcnc1-related disorder

Conditions: KCNC1 Related Disorder; Genetic Disease; Rare Diseases

Summary: this is a single patient study of oral powdered fluoxetine to target developmental outcomes in a child with kcnc1-related disorder. this trial will be conducted at holland bloorview kids rehabilitation hospital over 32 to 42 weeks, using a quasi experimental aba phase design (placebo-fluoxetine-placebo) with randomized and blinded active treatment start and stop moments.


Eligibility criteria:
inclusion criteria: 1. consent provided by substitute decision maker. 2. in good general health as evidenced by medical history 3. screening baseline bloodwork (or availability of clinical bloodwork within 3 months of trial start) with values below relevant cut-offs for adequate hepatic and renal function, and baseline electrolytes including potassium within normal range. 4. ability to take oral medication and be willing to adhere to the daily oral medication regimen exclusion criteria: 1. current use of monoamine oxidase inhibitors, other selective serotonin reuptake inhibitors, tricyclic antidepressants, or agents that strongly affect metabolism via cyp2d6, cyp2c9 or cyp3a4. 2. hypersensitivity to fluoxetine or to any ingredient in the formulation, including any non-medicinal ingredient, or component of the container 3. treatment with another investigational drug or other medication intervention within 8 weeks of starting the trial. 4. any condition or diagnosis, that could in the opinion of the principal investigator or delegate interfere with the participant's ability to comply with study instructions, might confound the interpretation of the study results, or put the participant at risk. 5. long qt syndrome including acquired long qt syndrome (e.g., due to concomitant use of a drug that prolongs the qt); a family history of qt prolongation; or other clinical conditions that predispose to arrhythmias.
evaluation of the initial color match of different single-shade composites

Conditions: Dental Diseases

Summary: the aim of this study was to evaluate the initial colour match of anterior non-carious cervical lesions restored with different single-shade resin composites, namely omnichroma (tokuyama) and charisma topaz one (kulzer).

colour selection for composite restorations is a challenging process influenced by a number of environmental and operator factors. the polychromatic structure of natural teeth presents a challenge to shade selection. consequently, the prevailing trend towards simplification of shade matching has led to the emergence of single-shade universal composites. single-shade universal composites are able to replicate the natural colour of teeth by capturing the structural colour based on the size of the filler particles. unlike other materials, it does not require the use of additional dyes or pigments. the blending, colour induction and colour assimilation effects of resin composites are collectively referred to as the chameleon effect. this phenomenon allows resin-based restorative materials to achieve a shade that closely resembles the colour of the surrounding tooth structure. the intelligent monochromatic composite makes shade selection easier for the clinician and provides a quick and easy way to create aesthetic restorations. its distinctive character reduces confusion and potentially saves time in the clinic. however, the effectiveness of this material in matching different shades of natural teeth remains uncertain, and there is a paucity of clinical evidence on the efficacy of its colour-matching capabilities in dental restorations.

Eligibility criteria:
inclusion criteria: * maintain satisfactory oral hygiene * have healthy gingival tissues * presence of an anterior non-carious cervical lesion approximately 5 m wide exclusion criteria: * presence of caries * signs of fistula * pulp exposure * periodontal tissue swelling * abnormal tooth mobility

Keywords: blending color match composite resin esthetics
using implementation intentions to self-incentivise weight-loss

Conditions: Overweight

Summary: the aim of the present research is to test the effect of helping people to reward themselves when they have successfully lost weight and the impact this will have on subsequent weight. each participant will be randomly allocated to one of four conditions. the trial requires 200 participants to perform a fully powered statistical analysis. the four conditions are: (1) a control condition, (2) intervention 1 (form a single self-incentivising implementation intention from a drop-down menu), (3) intervention 2 (form multiple self-incentivising implementation intentions from a drop-down menu), or (4) intervention 3 (asked to form a single self-incentivising implementation intention of their own devising). the main outcome measure will be bmi, which will be self-reported.


Eligibility criteria:
inclusion criteria: * aged 18+ exclusion criteria: * unable or unwilling to complete questionnaire
low molecular weight heparin for the prevention of early tips dysfunction

Conditions: Liver Cirrhosis; Portal Hypertension

Summary: transjugular intrahepatic portosystemic shunt (tips) dysfunction is defined as a loss of decompression of the portal venous system due to occlusion or stenosis of the tips. occlusion of the tips can either be due to thrombosis or hyperplasia of the intima. thrombosis of the tips usually occurs early and can happen within 24 hours of tips creation. the frequency of this complication is on the order of 10%-15% when bare stents are used. post-tips short-term low molecular weight heparin (lmwh) was used to prevent the early thrombosis formation. weather post-tips lmwh was necessary when polytetrafluoroethylene-covered stent was used during tips creation was not answered. the present study was designed to evaluate the effect of short-term use of lmwh on early tips dysfunction.


Eligibility criteria:
inclusion criteria: 1. diagnosis of liver cirrhosis 2. technical success of tips was achieved. exclusion criteria: 1. non-cirrhotic portal hypertension 2. portal vein thrombosis 3. budd-chiari syndrome 4. pregnancy 5. contradictions to anticoagulation therapy
real-world efficacy and safety of cystic fibrosis transmembrane conductance regulator (cftr) modulator therapy in adult patients with cystic fibrosis (cf)

Conditions: Cystic Fibrosis

Summary: in this trial real-world data on the safety (side effects and medication interactions) and efficacy (evolution of lung function testing, chronic bacterial airway infection, quality of life and endo- and exocrine pancreatic function) will be collected in adult people with cystic fibrosis (pwcf) eligible for elexacaftor-tezacaftor-ivacaftor (eti) up until 2 years after the start of this therapy.

pwcf group a: cftr-modulator-naive pwcf eligible for eti (based on age and cftr genotype) pwcf group b: pwcf already on cftr modulating therapy (i.e. ivacaftor-lumacaftor or ivacaftor-tezacaftor) and switching to eti. patients in both groups will undergo these examinations: * physical examination (including weight) * anamnesis for current and recent medication use (including dosage of pancreatic enzymes) and for acute respiratory exacerbations * lung function testing including spiometry, multiple breath washout testing and fractional exhaled nitric oxide * blood sampling: liver function tests, creatine kinase, albumin, pt, red and white blood cell count, platelet count * sputum/cough swab sampling * fecal elastase measurement * cystic fibrosis questionnaire-revised (cfq-r) questionnaire * patient health questionnaire-9 (phq-9) questionnaire * general anxiety disorder-7 (gad-7) questionnaire * sino-nasal outcome test-22 (snot-22) questionnaire these will be performed at baseline (prior to the start of eti, on the same day of start of eti), and every 3 months (+/- 7 days) thereafter. a blood sample will also be performed 14 (+/- 7 days) days after start of eti (for safety). fecal elastase measurement will only be performed at baseline if not available in the patient's medical record, and only 6 months after start of eti.

Eligibility criteria:
inclusion criteria: * eligible for eti (i.e. age above 18 years and cftr genotype f508del/any) based on reimbursement criteria in belgium exclusion criteria: * inability to perform lung function testing
evaluation of bone length measurement

Conditions: Bone Calcification; Osteoporosis

Summary: the purpose of this study is to determine if lunar ixda scanning with the use of a computer software program can make accurate measurements of the length of leg bones compared to conventional x-rays.

the investigators would like to see how well the calculation of bone length using lunar idxa compares to conventional x-ray since the lunar ixda exposed patients to less radiation than conventional x-rays.

Eligibility criteria:
inclusion criteria: * age 18 yrs. of age or older * have recent x-rays of lower extremity * are at least 3 feet 7 inches tall and not taller than 6 feet 7 inches. exclusion criteria: * are unwilling to read and sign the consent * are pregnant or if subject has not had a negative pregnancy test just prior to the ixda scan * have severe deformities of your legs or back * unable to lay on the scanning table for the scan
fructooligosaccharide and calcium absorption in adolescent girls

Conditions: Osteoporosis

Summary: fructooligosaccharides (fos) are believed to have positive effects on calcium absorption and bone accrual during growth. this study aims to see whether the addition of fiber in the form of fos to a calcium-containing beverage will increase calcium absorption. during two clinical visits, participants will receive a beverage containing a small amount of calcium, supplemented with either no dietary fiber or a small amount of fiber. height, weight, bone density and geometry, calcium absorption, and physical fitness will be measured. the effects of this fiber intervention may provide support for improving bone health with minimal fiber supplementation.


Eligibility criteria:
inclusion criteria: * female * calcium intake of 900-1300 mg/d * generally healthy exclusion criteria: * male * bmi \> 90th percentile for age * takes medication that influences calcium metabolism * any disorder of calcium or bone homeostasis (hypercalcemia, paget's disease) * smoking, illegal drug consumption * any gastrointestinal disease (crohn's disease, celiac disease, inflammatory bowel disease)

Keywords: calcium bone and bones girls bone mineralization fiber fructooligosaccharide female healthy adolescents
effects of exer gaming on balance and gait in parkinson's patients

Conditions: Parkinson Disease; Balance

Summary: to compare the effects of exer-gaming with conventional physiotherapy on balance and gait in parkinson's patients

parkinsons disease is a progressive neuro degenerative disorder manifested by a broad spectrum of motor and non-motor features. approximately 500 000 people suffer from parkinson's disease in the united states and there are approximately 50,000 new cases reported annually . postural instability, impaired gait, and freezing episodes are all common occurrences in parkinson's. agility activities, including supine-to-stand, ambulation, turning, and reaching activities, have been used to reduce freezing episodes, particularly in the early stages of disease. conventional physical therapy(balance training, stretching and strengthening exercises) being used for the balance and gait training in parkinson. in recent time, there has been development in such treatment plan. virtual reality based games have been used for such purposes. this study will look at the effects of virtual reality gaming in patients suffering from parkinson's disease and its outcomes in term of gait and balance training. a randomized clinical trial will be performed. total 16 patients will be included in the study and will be divided into two groups. vr group will be receiving virtual reality based exercise plan while the conventional group will receive conventional physical therapy . division will be done through lottery method. unified parkinson's disease rating scale and dynamic gait index will be used to collect the data. treatment frequency will be three days per week for three months .

Eligibility criteria:
inclusion criteria: * diagnosed parkinson's disease patients in stage i, ii,iii according to hoeh n-yahr classification. * patients with balance and gait disorders exclusion criteria: * other neurological conditions (stroke, alzheimer) * red flag signs (tumors, fractures, infections etc) * uncontrolled hypertension. * patients with visual disturbances * patients with cognitive disorders

Keywords: postural instability, parkinson disease, exer game
pregabalin in partial seizures: an open-label, international, multicenter add-on therapy trial.

Conditions: Seizures

Summary: to assess the clinical improvement (change in seizure frequency), safety and tolerability of patients with partial seizures following adjunctive therapy of pregabalin bid in addition to existing standard aeds.


Eligibility criteria:
inclusion criteria: * male and female subjects with a diagnosis of partial epilepsy. * 18 years and older. exclusion criteria: * having a treatable cause of seizure. * having a progressive neurological or systemic disorder
contamination of ovarian tissue by rt-pcr in participants with solid tumors

Conditions: Minimal Residual Disease; Fertility Preservation

Summary: for prepubertal patients, cryopreservation of ovarian tissue is the only option available to preserve their fertility before cancer treatment. but ovarian autograft raises the issue of the risk of reintroduction of potentially malignant cells. the aim of our study is to develop a specific and sensitive method for residual disease detection in the ovarian tissue from patients treated for a solid tumor during infancy, whose fertility may have been compromised by treatments and who benefited of ovarian tissue cryopreservation.

some solid tumors have high risk of metastatic localization including in ovaries. there is concern over the possible presence of malignant cells in ovarian tissue that could cause a recurrence of the primary disease after reimplantation. thus, the possibility of ovarian tissue involvement needs to be evaluated with sensitive molecular methods. those techniques are now available for leukaemia but histology is still the only way for solid tumors. based on our experience in detection by rt-pcr of minimal residual disease (mrd) in neuroblastoma since 1994 \[tchirkov et al. 2003\] and in ovarian tissue cryopreservation since 1995 \[schubert et al. 2005, chambon in press\], we want to develop a specific and sensitive method for residual disease detection by rt-pcr in order to evaluate the tumor contamination of ovarian harvested tissue. study population: we chose 3 models of pediatric solid tumors with high risk of metastases and which often require sterilizing treatments (chemo and/or radiotherapy): neuroblastoma, ewing tumor and alveolar rhabdosarcoma. we will use four tumor cells lines: imr32 and sk-nsh for neuroblastoma; rd-es for ewing tumor; rh-30 for rhabdosarcoma. we plan to use 20 fragments per line. study duration: 12 months study design: ovarian tissue without known malignancy but with a condition warranting laparoscopy (benign cysts) will be harvested during kystectomy (perikystic tissue). the harvested ovarian cortex will be cut: one half will be frozen according to our routine protocol \[schubert et al. 2005\] and the other half will be contaminated with tumor cells lines. then, detection of the specific transcript will be done by rt-pcr in fresh tissue and after freeze/thaw. total rna will be extracted with the tri-reagent and qrt-pcr will be performed using the "taqman" technology. primary endpoint: to reach a sensitivity about 1/106 cells.

Eligibility criteria:
inclusion criteria: * women of any age, diagnosed with a benign cyst that needs a laparoscopy may be included exclusion criteria: -

Keywords: polymerase chain reaction fertility preservation
preventing depression and anxiety: a cystic fibrosis-specific cognitive behavioral therapy intervention

Conditions: Depression; Anxiety

Summary: individuals with cystic fibrosis (cf) are at high risk for depression and anxiety, with negative consequences for quality of life, ability to carry out daily cf treatments, and health. cf foundation and european cf society guidelines recommend routine screening, treatment, and preventative efforts for depression and anxiety. cognitive-behavioral therapy (cbt) interventions focused on teaching coping skills have a large evidence-base for prevention and treatment of depression and anxiety, but there are barriers to accessing these interventions for individuals with cf. drs. friedman and georgiopoulos at massachusetts general hospital (mgh) have developed a cf-specific cbt-based preventive intervention for depression and anxiety with input from adults with cf and cf healthcare team members, called cf-cbt: a cognitive-behavioral skills-based program to promote emotional well-being for adults with cf, along with a training and supervision program for cf team interventionists. cf-cbt consists of 8 45-minute modules that can be flexibly delivered in the outpatient cf clinic, on the inpatient unit, or by telephone, by multidisciplinary members of the cf care team, minimizing additional cost and burden of care to patients. the goal of this study is to test cf-cbt in 60 adults screening in the mild range on measures of depression and anxiety at 4 cf centers, in a prospective randomized clinical trial comparing the intervention to usual treatment. participants will be randomized to receive the cf-cbt intervention immediately, or to a 3-month waitlist control followed by intervention. the study will measure depression, anxiety, quality of life, stress, and coping self-efficacy before and after the cf-cbt intervention, and also 3 and 6 months post-intervention.


Eligibility criteria:
inclusion criteria: * diagnosis of cf * depression and anxiety scores on the phq-9 and/or gad-7 screening measures in the mild but not moderate or severe range (scores are \> 4 and ≤ 9) * able to speak and read english exclusion criteria: * presenting an acute safety risk to self or others despite self-reporting of mild (subclinical) depression or anxiety scores on routine screening at baseline. those reporting suicidal intent with or without specific plan will be excluded from the study. these individuals will be referred for urgent/emergent further assessment and treatment as clinically indicated. * participation in concomitant formal cognitive-behavioral therapy at baseline

Keywords: cystic fibrosis cognitive-behavioral therapy prevention coping