Kornimate/medical-research-clean huggingface dataset:
spl insufficiency syndrome (splis)/nphs14: a splis observational study and patient registry (international)

Conditions: Sphingolipidoses; Enzyme Deficiency

Summary: this protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (splis), also known as nphs14, and to create a splis patient registry. medical records, radiological and pathology results, blood test results, and genetic information will be collected. samples of blood, cheek cells, urine and stool may be collected for analysis. if a skin biopsy has been performed for medical care, cells from the biopsy may be analyzed. no treatment or other intervention is involved in this study. however, the effect of treatments administered by the patient's physician may be detected and monitored based on changes in the blood or urine.

this protocol aims to gather information about sphingosine phosphate lyase insufficiency syndrome (splis), a condition also known as nphs14 or familial steroid-resistant nephrotic syndrome with adrenal insufficiency. splis is a recently discovered genetic disease caused by recessive mutations in the sgpl1 gene. splis can have effects on the kidney, adrenal gland, brain, skin, and blood cells. some patients with splis do not survive beyond infancy, whereas others live to adulthood. by monitoring the natural history of splis over time in affected patients, the investigators will establish a clinical baseline that reflects how the disease progresses over time. this information may be useful in future clinical trials. the results may reveal which types of sgpl1 mutations correlate with best and worst patient outcomes. some splis patients are current on a regimen of high dose vitamin b6 supplementation on the advice of their treating physician. by including patients treated with b6, our study may provide evidence for the impact of b6 treatment on biochemical and blood markers of the disease. our overall goals are to characterize the clinical, biochemical and metabolic manifestations of splis and how these manifestations change over time within individuals with this condition.

Eligibility criteria:
inclusion criteria: individuals of all ages diagnosed with splis based on bi-allelic pathogenic variants of sgpl1, including children and neonates, as well as family members or caregivers, healthy volunteers and individuals with other sphingolipidoses. exclusion criteria: the investigators will not include: * prisoners * pregnant women * healthy volunteers with: * diabetes, * infection, * fever, * known hiv/aids, * cardiac disease * or anemia.

Keywords: splis sphingosine phosphate lyase sgpl1 sphingolipidosis steroid-resistant nephrotic syndrome primary adrenal insufficiency neurological defect
optical coherence tomography of the middle ear using ossiview

Conditions: Middle Ear Disease

Summary: the aim of this study is to understand the diagnostic applications for this imaging technology and identify particular disorders to target for future clinical investigations. images obtained with the ossiview device will be correlated to other standard of care (soc) testing including microscopic otoscopy, ct scans, mris, audiologic testing results, and surgical and pathology reports.

optical coherence tomography (oct) is an optical imaging technique that uses a low-coherence interferometer to produce depth-resolved scans in tissue. this study will explore the utility of this technology in otology patients presenting with various pathologies as well as normal subjects.

Eligibility criteria:
inclusion criteria * age ≥18 years * ability to understand the consent process with adequate language and cognitive communication ability * presence of one of the pathologies (either currently or in the past) above or healthy control exclusion criteria * narrow or stenotic external meatus (ear canal) * movement disorder causing inability to keep head still during imaging
the effect of education given to parents of children with ventriculoperitoneal shunt on their anxiety and self-efficacy

Conditions: Hydrocephalus in Children

Summary: this study aims to evaluate the effect of tele-education given to parents of children with ventriculoperitoneal shunt on their anxiety and self-efficacy.

this study aims to evaluate the effect of tele-education given to parents of children with ventriculoperitoneal shunt on their anxiety and self-efficacy. the type of research was planned as a prospective, randomized controlled experimental study with a pretest-posttest control group. the research will be conducted online with the parents of children with ventriküloperitoneal shunts at pamukkale university hospital. the data of the research will be collected between march 2024 and february 2025. in data collection, a personal information form will be used to determine the socio-demographic characteristics of the participants, a parent knowledge test will be used to evaluate their knowledge levels, and the general self-efficacy scale and state and trait anxiety scale will be used to evaluate the dependent variables. it was determined that 60 parents should participate in the study, 30 for the experimental group and 30 for the control group. as the randomization method, "simple randomization" will be used to ensure an equal number of samples in the experimental and control groups. randomization will be done using the www.randomizer.org application. the data will be analyzed with the spss (23.0) package program. continuous variables will be given as mean ± standard deviation and categorical variables will be given as number and percentage. significance test of difference between two means in comparing independent group differences when parametric test assumptions are met; when parametric test assumptions are not met, mann-whitney u test will be used to compare independent group differences.

Eligibility criteria:
inclusion criteria: * 1. having a child aged 0-6 with a ventriculoperitoneal shunt 2. volunteering to participate in the research exclusion criteria: * 1. having difficulty accessing the internet 2. not joining the online group 3. not answering survey questions 4. having a child over 6 years of age with ventriculoperitoneal shunt

Keywords: online education ventriculoperitoneal shunt hydrocephalus in children self sufficiency parental anxiety
research study of a new medicine (nnc9204-1706) in people with overweight or obesity

Conditions: Metabolism and Nutrition Disorder; Obesity

Summary: the study is testing a new medicine for weight control in people with overweight or obesity. the aim of the study is to find out how safe the study medicine is and how it works in the body. participants will either get nnc9204-1706 (the new study medicine) or placebo (a dummy medicine) - which treatment participants get is decided by chance. nnc9204-1706 is a new medicine which cannot be prescribed by doctors. participants will get an injection under the skin of participants' stomach each morning for 10 weeks. a medical tool called novopen®4 will be used for the injection. participants must change the part of the pen including the medicine (the cartridge) each day. the study will last for about 16 weeks. participants will have at least 17 clinic visits and 10 phone calls with the study doctor. at certain times during the study, participants will have blood drawn and 3 different kinds of heart tests (electrocardiograms). study doctor will ask participants to answer mental health surveys.


Eligibility criteria:
inclusion criteria: * male or female, aged 18-55 years (both inclusive) at the time of signing informed consent. * body mass index (bmi) between 25.0 and 39.9 kg/m\^2 (both inclusive) at screening. overweight should be due to excess adipose tissue, as judged by the investigator. exclusion criteria: * female subject who is of childbearing potential (pre-menopausal and not surgically sterilised) and is sexually active with male partner(s) who are not surgically sterilised (vasectomy) or who is not using highly effective contraceptive methods (pearl index less than 1%) combined with a highly effective method of contraception for their male partner(s) (e.g. condom with spermicide), or are pregnant, breast-feeding or intend to become pregnant. * male subject who is not surgically sterilised (vasectomy) and is sexually active with female partner(s) and who is not using a highly effective method of contraception (such as condom with spermicide) combined with a highly effective method of contraception for their nonpregnant female partner(s) (pearl index less than 1%), and/or intend to donate sperm in the period from screening until 90 days following administration of the investigational medical product. * any disorder which in the investigator's opinion might jeopardise subject's safety, evaluation of results, or compliance with the protocol.
the effect of food stimuli on the calorie restriction response in healthy subjects

Conditions: Calorie Restriction; Aging

Summary: calorie restriction extends life span and prevents aging-related diseases in several species. odorants from live yeast restrain the beneficial effects of calorie restriction in drosophila melanogaster. the investigators hypothesize that visual and odorous food stimuli impact the neuroendocrine and metabolic response to starvation in healthy humans. in this randomized cross-over intervention study 12 healthy, young men will fast twice for 60-hours in the presence or absence of food-related visual and odorous stimuli. at baseline and on the last morning of each intervention an oral glucose tolerance test (ogtt) will be performed. during the ogtt blood is sampled and hypothalamic neuronal activity is measured by functional mri.


Eligibility criteria:
inclusion criteria: * caucasian male volunteers * age \> 18 years and \< 70 years * body mass index (bmi) \> 20 kg/m2 and \< 25 kg/m2 * fasting serum glucose (fsg) \< 6.1 mmol/l exclusion criteria: * any significant chronic of hereditary disease (including renal, hepatic or endocrine disease) * any significant abnormal laboratory results found during the medical screening procedure * any use of medication (except for nsaid) * anosmia or any other (acquired) loss of olfaction (ea. rhinitis) * recent weight changes or attempts to loose weight (\> 3 kg weight gain or loss, within the last 3 months) * difficulties to insert an intravenous catheter * smoking * mri contraindications * recent blood donation (within the last 3 months) * recent participation in other research projects (within the last 3 months), participation in 2 or more projects in one year

Keywords: fasting starvation calorie restriction fmri
neo-adjuvant chemotherapy and conservative surgery in cervical cancer to preserve fertility

Conditions: Cervical Cancer

Summary: if no metastases are observed, patients will start a short protocol of four courses of weekly neo-adjuvant chemotherapy (12 weeks). if response to chemotherapy results in a tumor of less than 2 cm, cervical conisation will be performed.

the standard treatment of stage ib1 2-4 cm cervical cancer in women who wish to preserve fertility is an abdominal radical trachelectomy with pelvic lymph node dissection. since the number of take home babies after completing this procedure is below 10%, there is a need for exploration of alternative treatment modalities with better chances of preserving fertility at equal risk of recurrence. since low fertility rates after abdominal radical hysterectomy are observed due to the radical surgery performed on the uterine cervix, less radical surgery is warranted. to enable less radical surgery by cervical conisation, neo-adjuvant chemotherapy to reduce tumor size is incorporated to the multi-modal treatment scheme of these patients.

Eligibility criteria:
inclusion criteria: * stage ib1 cervical cancer measuring ≥2 - ≤4 cm on physical examination and imaging in any direction * histologic type: squamous cell carcinoma (scc), adeno cell carcinoma (acc), adeno-squamous cell carcinoma (asc) * lymph vascular space invasion allowed (lvsi) * age ≥18 years and ≤ 40 years * wish to preserve fertility * written and signed informed consent * negative serum or urine pregnancy test within 14 days prior to registration, and an effective method of contraception must be used during treatment * mri abdomen and pelvis, chest x-ray must be performed and negative for metastatic disease within 12 weeks of enrolment * no metastases on pelvic lymph node dissection * laboratory values: serum creatinine \ 60 ml/min(cockroft formula); white blood cell count \> 3.5 x 109/l; platelets \> 100 x 109 /l exclusion criteria: * other high grade histologies like neuro-endocrine and clearcell carcinoma * figo stage ia, ib1\< 2 cm, ib2, ii, iii and iv disease * involvement of tumor in uterine corpus on mri or hysteroscopy if performed * evidence of metastatic disease on imagining (pet/ct/mri) performed within 12 weeks of enrolment * other malignancy
comparison of two strategies for glycemic control in acute ischemic stroke

Conditions: Acute Ischemic Stroke

Summary: the purpose of this prospective randomized controlled trial was to compare intensive insulin therapy with a carbohydrate restrictive strategy in patients with acute ischemic stroke evaluating the outcome through the glasgow outcome scale extended, hospital mortality and nihss during the icu stay.


Eligibility criteria:
inclusion criteria: * adult patients with acute ischemic stroke defined as: abrupt onset of focal neurologic deficit * no evidence of intracranial hemorrhage at non-contrasted ct scan. exclusion criteria: * age below 18 * pregnancy
effectiveness of ipratropium bromide in preventing exercise-induced bronchoconstriction in athletes

Conditions: Bronchospasm, Exercise-Induced

Summary: this will be a double-blind placebo-controlled study in which we plan to study 40 competitive endurance athletes. we will conduct an exercise test to evaluate maximal oxygen uptake and 2 exercise challenge tests to provoke eia. prior to the exercise challenge tests the athletes will randomly receive inhaled placebo or inhaled ipratropium bromide. we will compare the athletes' airway response to the exercise challenge with and without the active drug.

exercise-induced asthma (eia) is common and often unrecognized among endurance athletes. the mechanisms of asthma appear to be different between athletes and non-athletes, in that the occurrence of asthma is higher among endurance athletes and seems to be promoted by training. this suggests that factors inherent to athleticism, such as the parasympathetic nervous system, which has been shown to change with endurance training and is known to lead to narrowing of the airways, may be involved with the development of asthma in athletes. although asthma mechanisms and treatments have been extensively studied in classic asthmatics, there is very limited data in athletes. this will be a double-blind placebo-controlled study in which we plan to study 40 competitive endurance athletes. we will conduct an exercise test to evaluate maximal oxygen uptake and 2 exercise challenge tests to provoke eia. prior to the exercise challenge tests the athletes will randomly receive inhaled placebo or inhaled ipratropium bromide. we will compare the athletes' airway response to the exercise challenge with and without the active drug. if ipratropium bromide proves to prevent eia in athletes, this drug may be appropriate and effective to target eia in this population. the results of this study may lead to improved clinical management of athletes with asthma.

Eligibility criteria:
inclusion criteria: * athletes \> 13 years of age exclusion criteria: * history of cardiac complaints (chest pain, shortness of breath, palpitations, dyspnea on exertion). * history of cardiac disease or taking cardioactive medications. * history of smoking. * history of glaucoma.
mixed urinary incontinence surgical trial

Conditions: Med: Urinary Incontinence (Stress, Urge, Mixed)

Summary: surgical management of mixed urinary incontinence

study to evaluate role of anti-incontinent surgery burch colposuspension tension free vaginal tape trans obturator tape for the management of mixed urinary incontinence .

Eligibility criteria:
inclusion criteria: * patients with mixed urinary incontinence exclusion criteria: women with associated gynecological surgery e.g. uterine prolapse, previous anti-incontinence surgery, intrinsic sphincter deficiency (isd), and medical disorders affecting the bladder innervation as diabetes mellitus were excluded from the study. women who improved on medical treatment with persistence of stress element only were also excluded.
colorectal cancer awareness, research, education and screening (cares)

Conditions: Colorectal Cancer

Summary: there are two parts to this study: (1) an information gathering phase leading to the development of new educational materials; and (2) a study to test the newly developed material. the information gathering phase has been completed. the purpose of this part of the research study is to test the usefulness and acceptability of new educational materials investigators have developed. investigators will compare the new educational material to another widely available educational brochure. the goal is to see if the new educational material will change knowledge and behaviors about colorectal cancer and colorectal screening.

federally qualified health centers (fqhcs) and other community health clinics (chcs) provide comprehensive primary health care for underserved patients. recently, high-sensitivity and high-specificity fecal occult blood tests (fobt) and fecal immunochemical tests (fit) have emerged as a preferred initial screening modality within clinics due to convenience, ease of use, and low cost compared with colonoscopy. fobt/fit may help to reduce colorectal cancer screening (crc) screening disparities and overcome several previously mentioned factors that often account for suboptimal crc screening rates.

Eligibility criteria:
inclusion criteria: * racially-ethnically diverse adult men and women * average risk individuals who have no personal diagnosis, or presumptive symptoms of colorectal cancer (crc), or are not at high risk * self-report as not current on screening * provide at least two forms of contact information and contact information of a relative (not living with respondent) to facilitate follow-up contacts * are able to speak, read and write english because the instruments and cares intervention are available only in english at this time. we recognize that interventions are needed for non-english speaking populations, therefore, once we find promise in the english language cares intervention materials, we will move forward with conducting other studies that involve translation of measures and cultural adaptation of the cares intervention materials into spanish or haitian creole. exclusion criteria: * individuals who have participated in a crcs research study in the past 1 year will not be eligible for this study. * recent screening criteria relates to not having had i-fobt within the previous year, flex sig within the previous 5 years, a double-contrast barium enema (dcbe) x-ray with the previous 5 years, or a colonoscopy within the previous 10 years. * within the recruitment and intervention frame, high risk individuals (due to strong family history, ulcerative colitis, polyposis syndromes) are excluded because they may be eligible for crc screening before age 50, and the preferred screening option is certainly colonoscopy which is beyond the primary focus of the current study.

Keywords: colon rectum cancer screening questionnaire testing educational materials
an evaluation of non-invasive icp monitoring in patients undergoing routine care

Conditions: Stroke

Summary: the hs-1000 device, an investigational intracranial monitoring device, has the potential to safely and quickly diagnose and assess stroke (and potentially other neurologic conditions) with minimal discomfort to patients. hs-1000 has the capability to establish cerebral hemodynamic measurements in suspected stroke within minutes, assist with appropriate management of stroke, and also provide an objective diagnostic tool for clinicians to monitor recovery.

a prospective study will be conducted on patients with suspected stroke and/or acute neurologic changes treated at the armenia republican medical center. male and female patients over the age of 18 will be eligible for enrollment into the study. eligible patients or their legally authorized representative (lar) will be approached for consent to participate in the study. an initial recording session using the headsense hs-1000 device will be obtained upon admission to the hospital. during the admission, 2-4 additional recording sessions with the hs-1000 will be completed. the end-point of the study is to collect up to 30-minute recording with up to 5 sessions of adequate quality for analysis from up to 200 subjects. this data will be correlated with clinical findings obtained during the patient's diagnosis and treatment course. an ease-of-use questionnaire will be administered to the hs-1000 device operator(s) to obtain information regarding the function and workflow aspects of using the hs-1000 in an acute setting to improve assessment, diagnosis and treatment after stroke. the data obtained from the hs-1000 recordings will be analyzed to establish specific waveform patterns correlated with brain physiology after stroke.

Eligibility criteria:
inclusion criteria: * male and female subjects, \> 18 years of age * subjects with suspected stroke and/or acute neurologic changes admitted to armenia republican medical center * subject or legally authorized representative (per local regulation) is able and willing to comply with the requirements of the protocol * subject or legally authorized representative (per local regulation) is able to understand and sign written informed consent to participate in the study exclusion criteria: * local ear infection * known allergy or hypersensitivity to any of the test materials or contraindication to test materials * subjects currently enrolled in or less than 30 days post-participation in other investigational device or drug study(s), or receiving other investigational agent(s) * any condition that may jeopardize study participation (e.g., abnormal clinical or laboratory finding) or interpretation of study results, or may impede the ability to obtain informed consent (e.g., mental condition)

Keywords: noninvasive monitoring