Kornimate/medical-research-clean huggingface dataset:
genomic study of congenital malformation

Conditions: Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology

Summary: genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.

the affymetrix genechip® human mapping snp 6.0 array, includes more than 900,000 snp probes plus more than 900,000 cnv probes in a single chip, can provide high density makers information for the human genome. the median inter-marker distance is 670 bases and the average inter-marker distance is 1.67 kb, and the resolution can be as high as 200 kb. the affymetrix® cytogenetics whole-genome 2.7m array gives the greatest power to detect known and novel chromosome aberrations across the entire genome. in addition, the whole-genome array includes 400,000 single nucleotide polymorphisms (snps) to enable the detection of loss of heterozygosity (loh), uniparental disomy (upd), and regions identical-by-descent. if we are able to identify the candidate genomic regions that are associated with the congenital malformation/syndrome, we may have a better chance to understand the pathogenesis of congenital malformation/syndrome as well as the mechanisms underlying the abnormal chromosome rare diseases. the results from this study can also facilitate the clinical diagnosis and provide genetic basis for consultation.

Eligibility criteria:
inclusion criteria: 1. subject is diagnosed as congenital malformation/syndromes. 2. participants can be any ages, and both males and females are eligible. 3. subjects agree and are capable of giving informed consent. if participants are under 18 years old or incapable of giving consent, an informed consent must be approved by their legal guardians. 4. availability and willingness of the proband and first-degree biological family (parents, full sibling, or adult-age offspring) who also meets the same congenital malformation syndrome. 5. availability and willingness of the proband's biological parents whatever with or without the same congenital malformation syndrome. exclusion criteria: 1. subject or legal guardian is unable to understand or give informed consent. 2. the molecular cause for congenital malformation/syndromes of subjects or their affected first-degree biological family (parents, full sibling, or adult-age offspring) can be revealed by karyotype assay or fish.
strategies to promote skin health

Conditions: Skin Cancer; Skin Cancer Melanoma; Squamous Cell Carcinoma; Basal Cell Carcinoma

Summary: the purpose of the intended proposed research is to investigate and determine best strategies for preventing skin cancer for emerging adults. to answer this question, the investigators intended to pilot a randomized control trial with three arms: 1) facial morphing, 2) mindfulness, and 3) treatment as usual. the population from which the sample was drawn from was undergraduate psychology students from a large public university in southern california, who report recent indoor/outdoor tanning, and intentions for future tanning.

indoor and outdoor tanning are two of the most common risk factors for developing skin cancer. predictors of indoor and outdoor tanning including negative body image and negative affect. thus, to subsequently prevent skin cancer, interventions should focus on appearance concerns and negative affect. to date, limited brief efficacious skin cancer preventions exist. one potential program (april age) a facial morphing software program, has recently been evaluated as a potential prevention program of skin cancer. however, limited data exists on the long term benefits of this program. additionally, brief mindfulness programs have been found to be efficacious in preventing other health risk behaviors (e.g., smoking, negative affect, eating behaviors). to the investigators' knowledge, these brief mindfulness interventions have yet to be applied in skin cancer prevention. thus, the investigators sought to compare the relative efficacy of the facial morphing intervention and the mindfulness intervention vs. control condition (treatment as usual). it was hypothesized that both facial morphing and mindfulness would lead to reductions in tanning behavior compared to the tau condition. the investigators also tested contrasts between the facial morphing and mindfulness conditions, however, no directional hypotheses could be generated, due to the dearth of prior data on these interventions in skin cancer prevention.

Eligibility criteria:
inclusion criteria: * 1) aged 18 years old or older * 2) enrolled as a student at the university * 3) engaged in either indoor or outdoor tanning in the last 30 days * 4) intended to tan (indoor or outdoor) in the last 30 days * 5) english speaking exclusion criteria: * failure to meet any of the above mentioned inclusion criteria

Keywords: sunbathing indoor tanning facial morphing skin cancer risk
delivery pain and postpartum comfort

Conditions: Labor Pain; Hydrotherapy; Acupressure; Postpartum Period

Summary: in this study was aimed that acupressure applied on the bl32 point and shower application reduced the intensity of labor pain experienced by the pregnant women in the active phase of labor and increased their postpartum comfort

acupressure and shower are methods that can help reduce pain severity. this study thus aims to determine the effects of acupressure and shower on labour pain and postpartum comfort. this study was a randomized controlled trial (rct). this study was the control group consisted of 40 pregnant women, while the experimental groups (acupressure and shower) consisted of 80 pregnant women in total. the experimental groups received routine labour care and either acupressure or showers upon reaching three cervical dilations (4-5, 6-7 and 8-10 cm). the control group only received routine labour care. a maternal information form (mif), the visual analog scale for pain (vasp) and the postpartum comfort questionnaire (ppcq) were used to collect data. consort checklist was used to report the current study.

Eligibility criteria:
inclusion criteria: * the inclusion criteria were being 20-40 years of age; * having a foetus in vertex presentation * having a foetus weighing 2.5-4 kg, as determined through ultrasonography * being primiparous * being between 37 and 42 gestational weeks with a single foetus * having planned to have a spontaneous vaginal delivery * not having used nonpharmacological pain control methods previously * having a cervical dilation less than 5 cm (dabiri et al., 2014) * not having received analgesia or anaesthesia. exclusion criteria: * were having a systemic disease during pregnancy (gestational diabetes, hypertension) * taking medication regularly * having a problem that prevented the woman from communicating * undergoing psychiatric treatment (pharmacotherapy or psychotherapy) * requiring an operative vaginal delivery (forceps, vacuum) * receiving pharmacological interventions for labour pain.

Keywords: labor pain shower acupressure midwife postpartum comfort
circuit training and retina

Conditions: Cognitive Impairment, Progressive; Cerebral Small Vessel Diseases

Summary: the purpose of this research study is to see if high-speed weight training performed in a circuit (using one machine after another) can improve participant heart and brain function, strength, and power in older persons.


Eligibility criteria:
inclusion criteria: 1. 65-90 years of age; 2. montreal cognitive assessment (moca) \> 23 3. no memory loss complaints exclusion criteria: 1. uncontrolled cardiovascular or neuromuscular diseases that prevent participation in a training program; 2. cerebrovascular disease; 3. malignancy within the previous 5 years; 4. documented hiv infection or other immunodeficiency syndrome; 5. any systemic inflammatory or autoimmune conditions such as rheumatoid arthritis, systemic lupus erythematosus, or other serious concomitant medical illness; 6. a history of ocular surgeries (except for cataract surgery more than 6 months ago) or other ocular diseases; 7. bilateral moderate or severe cataracts; 8. refractive errors of myopia, hyperopia and/or astigmatism more than 6.0 diopters.

Keywords: circuit resistance training high-velocity training retinal microvasculature cognitive function
effect of tub bathing on skin and bilirubin levels in infants undergoing tunnel and led of phototherapy

Conditions: Newborn Jaundice

Summary: the study was conducted as a randomized controlled study to determine effect of tube bathing on skin and bilirubin levels in infants undergoing tunnel and led of phototherapy. the population of the study consisted of term babies with the diagnosis of hyperbilirubinemia in gaziantep cengiz gökçek maternity and pediatrics hospital and kilis state hospital neonatal intensive care units (nicu) among november 2019-september 2020. the sample size was composed of a total of 140 babies, which were determined according to power analysis and met the case selection criteria. accordingly, thirty-five babies were randomly assigned to each group (tunnel group = experiment and control; led group = experiment and control). the babies in the experimental groups were given a tube bath at 6 and 12 hours after phototherapy started. on the other hand, the babies in the control groups were given routine cares in the units. data were gathered 'information and registration form', neonatal skin risk assessment scale (nsras) and neonatal skin condition score (nscs).


Eligibility criteria:
inclusion criteria: * the baby is receiving phototherapy due to physiological hyperbilirubinemia, * being a term newborn, * monitoring of the led group in the incubator and the tunnel group in the tunnel phototherapy device, * parents' consent to participate in the study. exclusion criteria: * rh incompatibility between mother and baby, * finding abo non-compliance, * positive direct coombs test, * presence of congenital anomaly or syndrome, * any surgical intervention has been or will be made, * having any skin lesions, * the need for mechanical ventilation.

Keywords: tube bath skin care phototherapy
diagnostic value of modified cough reflex test with staged water swallow test in post-stroke patients showing dysphagia

Conditions: Stroke; Pneumonia; Aspiration; Deglutition Disorders

Summary: the investigators conducted staged water swallow test (swst) and modified cough reflex test (mcrt) on stroke patients referred for videofluoroscopic swallowing studies (vfss) due to dysphagia. the patients were followed for up to four weeks to examine the incidence and timing of aspiration pneumonia, the relationship between these tests and vfss results, and the diagnostic value of these tests as screening tools. descriptive statistics will be presented for the incidence and timing of pneumonia, as well as the results of the swst and mcrt. regression analysis will be conducted to determine the explanatory power of each aspiration indicator (swst and mcrt) in predicting aspiration or aspiration pneumonia. additionally, using the vfss results and the diagnosis of aspiration pneumonia as gold standards, the validity, sensitivity, specificity, positive predictive value (ppv), negative predictive value (npv), odds ratio (or), and relative risk (rr) for swst, mcrt, and their combination will be calculated to evaluate their diagnostic value.


Eligibility criteria:
inclusion criteria: * either ischemic or hemorrhagic stroke confirmed by a computed topography or magnetic resonance imaging * aged 20 years or older * signs or symptoms of dysphagia. exclusion criteria: * inability to maintain sitting posture with support * dyspnea requiring oxygen supplementation * diagnosed with aspiration pneumonia at enrollment * diagnosed with co-existing major neuromuscular disorders affecting swallowing * diagnosed with infectious diseases requiring isolation * refusal to participate
utility of 2- octyl cyanoacrylate (2-oca)

Conditions: Ascites; Fluid Loss

Summary: paracentesis is a commonly performed procedure in the inpatient and outpatient settings for treatment of ascites. the most frequent complication of paracentesis is fluid leak. risk for this complication can be reduced by following the z-track technique; however, fluid leaks still occur causing significant morbidity. 2-octyl cyanoacrylate (2-oca, dermabond manufactured by ethicon inc) skin adhesive has been used for years for skin closure for wounds from surgical incisions including punctures from minimally invasive surgery and simple trauma lacerations.

paracentesis is a commonly performed procedure in the inpatient and outpatient settings for treatment of ascites. the most frequent complication of paracentesis is fluid leak. risk for this complication can be reduced by following the z-track technique; however, fluid leaks still occur causing significant morbidity. 2-octyl cyanoacrylate (2-oca, dermabond manufactured by ethicon inc) skin adhesive has been used for years for skin closure for wounds from surgical incisions including punctures from minimally invasive surgery and simple trauma lacerations. it has also been used for treatment of ascites fluid leaks following paracentesis with success in case reports. while the initial fda approval included a contraindication for use on mucosal surfaces, some evidence in literature suggests that use on mucosal surfaces might warrant further investigation. for example, 2-oca has been used for repair of a lacerated tongue of a pediatric patient and for closure of congenital cleft lips

Eligibility criteria:
inclusion criteria: * inpatients at methodist dallas medical center (mdmc) ≥18 years of age with ascites requiring therapeutic paracentesis performed by the procedure team at the bedside. exclusion criteria: * paracentesis procedures performed in the interventional radiology department or by physicians outside of the procedure team. * patients who undergo a liver transplant surgery or other abdominal surgeries within 48 hours from the paracentesis procedure. * patients that undergo paracentesis using a device or kit other than the 18 gauge safe-t-centesis kit
photobiomodulation and parkinson

Conditions: Parkinson Disease

Summary: this study aimed to assess the effects of transcranial photobiomodulation in patients with parkinson's disease (pd).

thirty-five patients with idiopathic pd were randomly assigned to a photobiomodulation (n=17, \[mean±sd\] 72±7 years) or sham group (n=18, 70±8 years) during 9 weeks (2 sessions/week). the primary endpoint was the motor portion of the movement disorders society-united pd rating scale. secondary endpoints were the scales for outcomes in pd, static posturography, walking ability (ten-meter walk test \[tmwt\]) and functional mobility (timed up and go \[tug\] test).

Eligibility criteria:
inclusion criteria: * having been diagnosed with idiopathic pd. * stage 1-2 on the hoehn and yahr scale. * having no neurological condition other than pd. * being able to stand for 2 minutes and walk 10 meters without assistance. * having no severe dyskinesias or "on-off" phases. exclusion criteria: - do not follow inclusion criteria.

Keywords: movement disorders light therapy motor aspects
tens in scleroderma

Conditions: Scleroderma; Gastroparesis; Systemic Sclerosis (SSc)

Summary: the goal of this pilot study is to assess the acceptability of the transcutaneous electrical acustimulation (tea) device in treating scleroderma-related gastroparesis. the main objective is: to evaluate the acceptability of tea as an intervention for alleviating symptoms of distension and bloating in individuals diagnosed with scleroderma. participants will be provided with the tea devices that will be applied to the skin for a total of 45 minutes twice daily after meals. participants will be asked to fill out both daily diaries and biweekly questionnaires to assess for improvement in the gastroparesis symptoms.


Eligibility criteria:
inclusion criteria: 1. classification of systemic sclerosis according to the 2013 american college of rheumatology and european league against rheumatism classification criteria. 2. age \&gt;= 18 years 3. english speaking. 4. participants who report moderate to severe symptoms of distension/bloating on ucla scleroderma clinical trials consortium gastrointestinal tract instrument 2.0 5. stable gi specific therapy including prokinetics over the last 4 weeks. exclusion criteria: 1. pregnancy, or currently lactating. 2. a history of major abdominal surgery (other than cholecystectomy, appendectomy, or deemed as non-major by the investigators) 3. unrelated active disorder which may involve abdominal pain, such as inflammatory bowel disease, diabetes or unstable thyroid disease. 4. known allergy to adhesive ecg electrodes. 5. known contraindications to tea (e.g., cardiac pacemaker, epilepsy)

Keywords: tens scleroderma gastroparesis pilot study systemic sclerosis
context effects in exercise therapy for knee and/or hip pain

Conditions: Joint Pain; Knee Pain; Hip Pain; Osteoarthritis, Knee; Osteoarthritis, Hip

Summary: the study is designed to investigate the effect of physical surroundings on the effect of exercise therapy for knee and hip pain.

context effect have been shown to be influential in health-care settings, such as hospitals. this study investigates if context effects can be caused by the physical surroundings of exercise. the study is designed as a double-blind randomized controlled clinical trial. patients with knee and/or hip pain with a duration of a least 3 months are included in the trial and randomly assigned to 3 groups. 1. exercise in pre-existing, standard room 2. exercise in contextually enhanced room. 3. waiting list. the intervention consists markedly different between the two exercise rooms. the physical surroundings are described by factors such as acoustics, light source and intensity, decorations and air quality. the exercise program applied is based on a previously investigated neuromuscular exercise program, nemex. the same program is performed in both exercise rooms. consequently, only the physical surroundings differ between intervention groups. patients' "global perceived effect" is used as the primary outcome assessed at 8 weeks follow-up.

Eligibility criteria:
inclusion criteria: * age: 35 years or older * self-report of knee and/or hip pain within the last 3 months. * willing and able to attend exercise therapy at the university of southern denmark, odense m twice weekly. exclusion criteria: * co-morbidities or contraindication prohibiting to participation in exercise therapy. * unable to fill-out questionnaires, or to speak, read or understand danish. * already participating in exercise therapy\*, having had surgery to the hip/knee within the last 3 months or on waiting list for joint surgery within the coming 6 months. (\*defined as supervised exercise program by physiotherapist, systematic strength training etc. with duration of 6 weeks or more)

Keywords: joint pain context effects placebo effect exercise treatment
infertility and endometriosis cohort

Conditions: Endometriosis; Infertility

Summary: nowadays, one in six couples consults for fertility problems. if the standard examination and tests do not reveal any cause of infertility, the woman may undergo a laparoscopic exploration which reveals endometriosis in more than 50% of cases. endometriosis is an inflammatory disease defined as the presence of endometrial tissue out of the uterine cavity. it is frequent (1 in 10 women) and associated with a high economic burden (22 billion dollars in 2002 in the usa) and important decrease in quality of life. physiopathological mechanisms and risk factors for endometriosis are not well identified. a woman with endometriosis is 20 times more at risk of infertility. fecundity rate of a 25-year-old couple is about 15 to 20% in the general population and only 2 to 10% in case of endometriosis. there are many manifestations of this disease (infertility, pelvic pain) and the anatomo-clinical correlation is not good. the presently used international classification (american fertility society revised in 1985, afsr) does not predict the chance of pregnancy. new scores such as the endometriosis fertility index (efi) have been proposed to do so, but need to be validated. treatment for endometriosis-related infertility is not consensual. a prospective cohort study would give access to clinical data of patients followed in our center, so as to identify clinical factors predicting pregnancy and to help treatment decision for women with endometriosis suffering from infertility.


Eligibility criteria:
inclusion criteria: * woman from 18 to 41 years old. * dealing with infertility, * with a normal pelvic echography and hysterosalpingography, a normal hormonal status and a partner with a normal sperm. * for whom a laparoscopic exploration finds endometriosis. * consenting to participate to the study. exclusion criteria: * any contraindication for general anesthesia or for laparoscopy. * any contraindication for pregnancy. * follow-up is impossible. * consent is impossible.

Keywords: endometriosis cohort study fertility pregnancy assisted reproductive technics laparoscopy
clinical pharmacology study of oral edaravone in amyotrophic lateral sclerosis patients with gastrostomy

Conditions: Japanese Patients With ALS

Summary: to evaluate the pharmacokinetics of single doses of edaravone oral suspension in amyotrophic lateral sclerosis patients with gastrostomy


Eligibility criteria:
inclusion criteria: the key criteria are listed below. * patients aged between 20 and 80 years at the time of informed consent * japanese patients * among patients with als, those "clinically definite als," "clinically probable als" or "clinically probable-laboratory-supported als" according to el escorial revised airlie house criteria * als patients with gastrostomy * patients who can consent to contraception * patients who have thoroughly understood the contents of the study and voluntarily provided written informed consent to participate in the study exclusion criteria: the key criteria are listed below. * patients in whom the possibility could not be ruled out that the current symptoms were symptoms of a disease requiring differential diagnosis, such as cervical spondylosis and multifocal motor neuropathy * patients undergoing treatment for malignancy. * patients who have presence of clinically significant liver, heart, or renal disease requiring hospitalization (except als) and infections requiring antibiotics. patients who have a problem in general condition and are judged ineligible by the investigator * body mass index (bmi) of \ 30.0, or a body weight of \<40 kg * patients judged by the investigator (or subinvestigator) to be unsuitable for the study for any other reason