Kornimate/medical-research-clean huggingface dataset:
copper histidinate treatment for menkes disease

Conditions: Menkes Disease

Summary: this study investigates the clinical effects and safety of subcutaneous copper histidinate treatment for newly diagnosed menkes disease patients under 6 years of age.


Eligibility criteria:
inclusion criteria: 1. the subject must be a newly diagnosed menkes disease patient in the united states. 2. must sign and date an informed consent form by parent or legal guardian for this study prior to any assessment being done in this study. 3. male or female, aged 0 to \<6 years of age. 4. confirmed diagnosis of menkes disease based on the following clinical and/or biochemical and/or molecular characteristics: clinical: abnormal hair color and/or texture, and/or seizures, and/or hypotonia, and/or developmental delay; or biochemical: low serum copper levels (\< 75 mcg/dl) and/or ceruloplasmin and/or abnormal plasma catecholamine levels; or molecular: mutation(s) in the atp7a gene (deletion/duplication, nonsense, missense, or canonical or non-canonical splice junction mutations). 5. for newly diagnosed menkes disease patients, whose molecular atp7a gene mutation confirmation is pending these patients should have serum copper levels \< 75 mcg/dl. 6. ability to adhere to the prescribed subcutaneous copper histidinate injection regimen. 7. willingness to comply with all study visits and procedures. exclusion criteria: 1. pre-existing liver (e.g., hepatitis, biliary atresia, cirrhosis) or kidney disease (e.g., serum creatinine \>1.0 mg/dl). 2. history of bleeding diatheses. 3. diagnosis of wilson disease. 4. any disease or condition that, in the opinion of the investigator, has a high probability of precluding the subject from completing the study or where the subject cannot or will not appropriately comply with study requirements. 5. participation in any other investigational trial in which receipt of investigational drug or device occurred within 30 days prior to screening for this study.
pathogenic variants in genes associated with lung adenocarcinoma

Conditions: Lung Adenocarcinoma

Summary: the goal of this observational study is to describe the prevalence of germ line-pathogenic variants in mexican patients with lung adenocarcinoma. the main questions it aims to answer are: 1. what is the prevalence of pathogenic variants in genes associated with lung adenocarcinoma in mexican patients younger than fifty? 2. which clinical-pathological characteristics are associated with germ-line pathogenic variants in patients with lung adenocarcinoma? 3. how actionable somatic mutations are associated with germ line-pathogenic variants of patients with lung adenocarcinoma? participants will be asked to sign an informed consent; after that, they will be instructed to donate 10 ml of peripheral blood by venipuncture in the morning and before the patient has taken morning medication and the first meal, following a period of 8-12 hr fasting.

this is an observational, descriptive, and longitudinal study. the sample size was calculated with a proportion difference formula for a known population, considering the local institutional personalized medicine laboratory tests 100 blood samples per year from patients with non-small cell lung cancer (nsclc). it was considered a 95% confidence level and an 80% power. in addition, a 10% loss in follow-up was estimated. after reviewing the inclusion and exclusion criteria, signing the informed consent, and peripheral blood sampling. total dna (tdna) will be extracted using the dnaeasy blood \& tissue (qiagen) kit. likewise, for the determination of pathogenic variants, the sophia hcs community panels (sophia genetics) will be used to carry out next-generation (ngs) sequencing in a nextseq 550 (illumina) platform. to determine the clinical significance of genomic variants, the data analysis will be performed on the sophia alamut™ visual plus which is a comprehensive, full genome browser for efficient and user-friendly variant interpretation.

Eligibility criteria:
inclusion criteria: * both sexes * ≥ 16 years old, according the institutional protocols for new patients admittances. * histologically confirmed lung adenocarcinoma (luad) * signed written informed consent form * a life expectancy greater than 8 weeks. * histologically confirmed luad and one of the following conditions: i) lcfh, defined as having one first-degree relative (fdr) or two or more second-degree relatives with lc, irrespective of the age at diagnosis. ii) age at diagnosis ≤50 years, or ≤60 with a pack-years index. iii) presence of ≥1 agas (egfr, alk, ros1, kras, braf, met exon 14 skipping, or ret). exclusion criteria: * a sample of peripheral blood that is not accessible. * insufficient clinical pathological information in the electronic clinical record. elimination criteria: * withdrawal * insufficient dna quality and quantity for genomic sequencing analyses. * lost of follow up

Keywords: lung adenocarcinoma hereditary cancer germline pathogenic/likely pathogenic variants somatic driver alterations
lactobacillus reuteri in children with constipation

Conditions: Functional Constipation

Summary: the most common cause of children chronic constipation is functional disorders. functional constipation is diagnosed after excluding organic causes of constipation (anatomical, neurological, endocrinological) and identification of two symptoms defined by the rome iii criteria. there could be low number of bowel movements (below three times a week), defecation pain, fecal incontinence (once a week), stool consistency or occurrence of large diameter stools. the treatment is change of diet, defecation training and application of laxatives. the probiotics are defined as living microorganisms, which provided in a proper doses should result in beneficial effect on a host health. the assessment of its characteristic is related to strain of bacteria affiliation. taking into the consideration that patients with constipation may experience microflora intestine disorders, using the probiotics can have the positive impact on process of treating this disease. the additional reason for using the probiotics during the constipation treatment is an influence of probiotics on movement of the alimentary canal. in spite of proved effectiveness of some probiotics' strains further research are required, because clinical significance is ambiguous and the effect is confirmed among patients with short medical history. that's way the further analysis of probiotic lactobacillus reuteri dsm 17938, which was successful treatment method of chronic constipation amongst children (infants) should be performed. the primary aim of the study is the assessment of lactobacillus reuteri dsm 17938 efficacy, provided with macrogol (forlax), as treatment of constipation in 3-7 years old children. the baseline of estimation is the frequency comparison of bowel movement in children belonging into two groups: lactobacillus reuteri treatment and placebo. the secondary aim of the study is the assessment of frequency the additional symptoms connected with defecation disorders: such as: number of pain episodes during defecation, the intensity of pain, number of hard stools, number of fecal incontinence per week, number of macrogol (forlax) pockets used. the investigators believe that constipation treatment (laxatives- macrogol) with lactobacillus reuteri has better efficacy that the same treatment without lactobacillus reuteri in 3-7 years old children with medical history of chronic constipation.


Eligibility criteria:
inclusion criteria: * children 3-7 years old * occurrence less than three bowel movement per week * medical history from at least two months\] * ineffective laxative treatment at least two months * the parents approval for child participation in the study and for the treatment exclusion criteria: * well-known, organic cause of constipation (i.e. hypothyroidism, hirschprung disease, cystis fibrosis) * anatomic defects of the alimentary canal * the surgery of the alimentary canal in the past * treatment of antibiotics/probiotics during last two weeks before start of the study

Keywords: probiotics constipation children
telerehabilitation program in persistent covid-19

Conditions: Coronavirus Infection; Respiratory Disease

Summary: the syndrome characterized by the persistence of symptoms typical of covid-19, beyond 4 weeks after discharge, is called long covid. long covid affects a high percentage of patients who have suffered from covid-19, regardless of its severity. the various symptoms present in that patients affect the functionality and physical, mental and psychological capacities of patients. therefore, it is necessary to implement therapeutic programs, based on exercises and techniques of physiotherapy, to help affected people to resume their work, family, social and sports activities; prior to illness. given the context in which these programs must be developed, telecare is positioned as the most recommended care method to carry out the rehabilitation of these patients. the general objective of this study is to evaluate the effectiveness of a cardiorespiratory tele-rehabilitation program in persistent covid-19 patients. study participants (n=60) will be randomly assigned to one of two intervention groups. group 1 will combine breathing exercises with aerobic exercise: walk; and group 2 will perform functional exercises in addition to respiratory physiotherapy with. all participants will be evaluated at the beginning of the intervention, at the end of it.


Eligibility criteria:
inclusion criteria: * who have been diagnosed with coronavirus infection (pcr + and / or antigen test +). * have had a mild form of covid-19 (absence of symptoms or mild symptoms without signs of viral pneumonia or hypoxia). * have overcome such infection; and continue to experience persistent symptoms, including dyspnea, fatigue, and / or functional limitation. exclusion criteria: * subjects suffering from other pulmonary or cardiac pathologies and / or diabetes, cancer. * individuals who required hospitalization, during the acute stage of infection; * people who continue to obtain a positive pcr and / or positive antigen test; * those who have not been discharged by their doctor; * subjects who show serious symptoms and / or require medical supervision; * individuals with an inability to handle the internet and devices, such as mobile phones, computers or tablets; essential for telecare

Keywords: covid-19 physical therapy dyspnea fatigue online health functional status
ultrashort cognitive behavioral intervention for tokophobia- a prospective randomized single blinded controlled trial

Conditions: Specific Phobia

Summary: women in their 3rd trimester, represent a unique segment of the tokophobic population. in these cases help is needed within a very short and limited period of time. to date, no specific treatment targets this population in order to ameliorate the anxiety and to provide these women and their newborns with better obstetric and psychiatric outcomes. the present study investigates an accessible individual two session intervention conducted by midwives skilled in cbt (cognitive behavioral therapy) . this intervention is designed to enable stronger emotional regulation and increase of their capacity to accept unexpected changes during labor and feelings of control. the investigators expect this psychological adjustment to lead to a better course of delivery, less interventions including caesarian sections, and subjective birth experience.


Eligibility criteria:
inclusion criteria: 1. hebrew speaking pregnant women week 32 + 0 to 37 + 0 2. fulfilling the criteria for a specific phobia diagnosed by scid (structured clinical interview for the diagnostic) in accordance with dsm-v (diagnostic and statistical manual) and the fear of vaginal delivery questionnaire (fdq). exclusion criteria: 1. women who suffer from a psychotic disorder, ptsd or suicidal ideation 2. high risk pregnancies 3. alcoholism or drug abuse and dependence.
olfactory and taste disturbances in sjogren's syndrome

Conditions: Sjogren's Syndrome

Summary: sjögren syndrome is an autoimmune disease, responsible for xerostomia and xerophthalmia. other organs and tissues can be affected: the skin, vaginal and nasal mucous membranes. as well, olfactory disorders have been also described in sjögren syndrome. xerostomia often causes significant functional impairment of taste function. impairment of taste function has been poorly evaluated in sjögren syndrome like olfactory or (intra-nasal and oral) trigeminal disorders.

the aim of the study is to evaluate olfactory, taste (intra-nasal and oral) trigeminal functions in patients with sjogren's syndrome compared to patients without sicca syndrome.

Eligibility criteria:
inclusion criteria: * group 1 : patients with sjogren's syndrome * group 2: patients without sicca syndrome * older than 18 years old * consenting to participate to the study exclusion criteria: * smoking patients * patients with stomatitis * patients with upper respiratory tract infection

Keywords: sjogren's syndrome olfactory disorder taste disorder (intra-nasal and oral) trigeminal impairments
efficacy of a standardized centella asiatica extract in patients with temporomandibular disorder

Conditions: Temporomandibular Disorder

Summary: the goal of this clinical trial is to test analgesic effect of eca 233 in subjects with tmd. the main questions it aims to answer are: * can eca 233 reduce pain intensity score in subjects with acute tmd? * can eca 233 increase jaw functional movements in subjects with acute tmd? participants will be separated into four groups, including placebo, ibuprofen, low-dosed eca and high-dosed eca groups.

eca 233 is a standardized extract of centella asiatica with known anti-inflammatory properties and an acceptable safety profile. hence, it would be relevant to evaluate the anti-inflammatory and pain reducing effects of eca 233 on subjects with acute tmd, as well as jaw functional movements. a randomized, double-blind, placebo- and active-controlled clinical trial was performed on 18 to 50-year-old participants with acute tmd. these were randomly assigned to four treatment groups for 14 days: placebo, ibuprofen, eca 233 250mg and 500 mg. at baseline, subjects reported 5 to 8 of pain intensity on a numerical rating scale (nrs). no medications were self-reported 24 h before and during the trial and no systemic conditions were diagnosed. degenerative joint disease was screened before treatment. pain intensity levels, mandibular range of motion including pain-free, unassisted and assisted mouth opening at baseline and days7 and 14 post-treatment. masticatory muscle and jaw joint tenderness were evaluated upon palpation.

Eligibility criteria:
inclusion criteria * subjects reporting tmd pain lasting for 30 days or less (acute pain) * subjects with pain ratings between 5 and 8 on a 0-10 numerical rating scale exclusion criteria * subjects with any underlying chronic disease * subjects undergo any sort of treatment that may influence pain perception and/or inflammation, including as diabetes, psychological distress, systemic inflammatory disorders, oral appliances, and medications

Keywords: tmd
intraoperative imaging of pulmonary adenocarcinoma

Conditions: Lung Cancer

Summary: the goal is to improve surgery by preventing tumor cells from being left behind at the time of surgery. this includes finding residual tumor cells in the wound after surgery.

the goal is to improve the intraoperative identification of tumor cells at positive margins and regional metastases that may be missed by a surgeon during a pulmonary resection. improved identification of tumor cells will result in superior disease clearance and more accurate clinical staging. the investigators hypothesize that targeted fluorescent imaging during surgery will improve identification of positive margins and metastases. since folate receptor alpha (fr ) is expressed on 55% of resectable lung cancer, the investigators will utilize a fluorescent probe that targets these tumors. as real-time imaging provides more information to the surgeon, more personalized and directed operations can be conducted. this work will allow for more preservation of normal tissue, decreased morbidity, decreased surgical time, increased surgical confidence, improved cancer detection, decreased unnecessary surgery and ultimately improved tumor free survival. this technology should transform clinical surgery from an art that depends fully on the human factor to a procedure that has precision and fail safes.

Eligibility criteria:
inclusion criteria: * lung cancer * surgical candidate * operable * resectable exclusion criteria: - no allergies to contrast dyes

Keywords: surgery folate receptor
early feasibility study of transcutaneous upper airway stimulation in obstructive sleep apnea

Conditions: Obstructive Sleep Apnea; OSA

Summary: early feasibility study to estimate the functionality of a novel intervention based on non-invasive transcutaneous electrical stimulation of the hypoglossal nerve to reduce the apnea hypopnea index (ahi).


Eligibility criteria:
inclusion criteria: * provision of signed and dated informed consent form * stated willingness to comply with all study procedures and availability for the duration of the study * male or female, aged 18 years or older * in good general health, as evidenced by medical history and diagnosed with moderate or severe osa * in-lab psg, within the last 6 months, with an ahi of 15-50/hour. in addition, \<25% of the respiratory events on the diagnostic psg can be attributed to central apneas * bmi less than or equal to 32 exclusion criteria: * no or mild osa (ahi \ 50/hour), exclusively postural sleep apnea, or isolated rapid-eye-movement (rem) sleep associated osa. * patients who are cachectic (bmi \ 32 kg/m2). * patients should not have enlarged tonsils (size 3-4) and/or adenoids, nasal polyps, neuromuscular disease, hypoglossal nerve palsy, abnormal pulmonary function tests, severe pulmonary hypertension, valvular heart disease, heart failure (new york heart association, nyha iii-iv), recent myocardial infarction, significant cardiac arrhythmias, atrial fibrillation, stroke, opioid usage, uncontrolled hypertension, known allergic reaction to adhesives or latex, active psychiatric disease, co-existing non-respiratory sleep disorder, pregnancy or significant metal implants or cardiac/other pacemakers. * patients with facial hair that affects the correct placement of the electrodes, if they are unwilling to shave.
a study of tirzepatide (ly3298176) on the reduction on morbidity and mortality in adults with obesity

Conditions: Obesity; Overweight

Summary: this study will investigate the effect of tirzepatide on the reduction of morbidity and mortality in adults living with obesity and provide additional evidence for the potential clinical benefits of tirzepatide in this population.


Eligibility criteria:
inclusion criteria: * have a body mass index (bmi) ≥27.0 kilogram/square meter (kg/m ²) * are either * individuals ≥40 years of age with established cardiovascular disease (cvd). * cvd is defined as meeting at least one of the following: * coronary artery disease * cerebrovascular disease * peripheral arterial disease or * individuals without established cvd but have the presence of cardiovascular (cv) risk factors (primary prevention) * women 55-69 years of age or men 50-64 years of age with at least 3 risk factors like tobacco use, dyslipidemia, hypertension at screening, or * women ≥70 years of age or men, ≥65 years of age with at least 2 risk factors at screening. exclusion criteria: * have type 1 diabetes (t1d) or (t2d), history of ketoacidosis, or hyperosmolar state/coma * have laboratory evidence diagnostic of diabetes mellitus at screening of hba1c ≥6.5% (≥48 millimole/mole (mmol/mol) or fasting glucose (fg) ≥126 milligram/deciliter (≥7.0 millimole/liter (mmol/l). * any one of the following cv conditions within 90 days prior to screening * mi * acute coronary syndrome * stroke * coronary or peripheral arterial revascularization procedure, which may also include carotid artery revascularization, or * acute decompensated heart failure * have a known clinically significant gastric emptying abnormality such as severe gastroparesis or gastric outlet obstruction or have undergone or currently planning any gastric bypass (metabolic) surgery or restrictive bariatric surgery. note: liposuction or abdominoplasty are not considered as gastric bypass procedures. * have a history of chronic or acute pancreatitis * have a family or personal history of medullary thyroid carcinoma or multiple endocrine neoplasia syndrome type 2. * have acute or chronic hepatitis, or clinical signs or symptoms of any other liver disease, or have elevated liver enzyme measurements, determined by the central laboratory at screening * have a presence or history of malignant neoplasms within the past 5 years prior to screening.
positron emission mammography (pem) biopsy accessory for the diagnosis of breast cancer

Conditions: Breast Cancer

Summary: the purpose of this research study is to evaluate how well the stereo navigator biopsy accessory for the pem flex solo ii pet scanner works for performing breast biopsy on suspicious lesions. this study will also allow the doctors to describe the features of pem detected lesions and the results obtained using the pem guided biopsy and will compare the time it took to complete a pre-operative work up using pem versus mri in patients with a suspicious breast lesion resulting in cancer.

see brief summary.

Eligibility criteria:
inclusion criteria: * female * subject is 25-100 years of age * subjects has at least one breast imaging finding on mammography and/or ultrasound which is assessed as highly suggestive of malignancy and recommended to biopsy * subject is able to provide informed consent exclusion criteria: * subject is pregnant * subject is actively lactating or discontinued breastfeeding less than 2 months ago * subject has breast implants * subject is scheduled for sentinel node procedure using radioactive tc-99m within 24 hours of the pem study * subject has contraindications for core biopsy and other invasive procedures * subject has type i diabetes mellitus or poorly controlled type ii diabetes mellitus * subject has had surgery or radiation therapy on the study breast or has had chemotherapy within the past 12 months * subject has not fasted for 4-6 hours prior to the procedure and/or have a fasting blood glucose level greater than 140 mg/dl on day of pem imaging

Keywords: pet pem positron emission mammography breast biopsy