Kornimate/medical-research-clean huggingface dataset:
natural history with focus on oncological risk evaluation in pediatric patients with pten pathogenic variants - observational study

Conditions: PTEN Hamartoma Syndrome

Summary: this is an observational study in pediatric patientis carryng pten pathogenic variants aimed to define oncological risk in children and provide a deeper insight of the clinical course, establishing an updated follow-up protocol.

pten is a tumor suppressor gene that was first linked to cancer predisposition syndromes but, in the following years, its phenotypic spectrum has been in continuous evolution and expansion, and nowadays we know that pathogenic variants n this gene may also be found in children presenting with autism spectrum disorder (asd), and/or dd and macrocephaly, or also with macrocephaly alone. thus, the term pten hamartoma tumor syndrome (pths) is now used when referring to pten-related conditions. nowadays, there is no recognized standard protocol for pediatric follow-up. the screening in mostly single-centre-based and generally not performed in infancy, with large variability in protocols and timing. the penetrance, which was previously believed to follow an age-related pattern, nowadays seems rather to be age-specific, as children mainly present macrocephaly and neuropsychiatric problems (dd/asd), while adults are diagnosed mostly because of gastrointestinal malignancies, breast cancer, thyroid carcinoma or other tumors. however, it is not always true that adult symptoms never occur in pths children and, conversely, pediatric signs may also persist through adulthood. the present study aims to collect pten mutated patients and their relatives diagnosed in italy and followed in different centers, offering a large pediatric cohort with a full clinical description and trying to provide a deeper insight of the clinical course and oncological manifestations of pten-related syndrome; we would like to establish an updated follow-up protocol in order to address all the possible clinical needs of these children.

Eligibility criteria:
inclusion criteria: * pten pathogenic variants (class 4/5 snv, gene deletion, intragenic duplication/deletion) * pediatric patients (\<18 years old) and their affected relatives, male/female, all ethnicities * the legal representative must agree to follow the screening protocol * informed consent signed by the legal representative exclusion criteria: * refuse to undergo the exams of the protocol assessment at the diagnosis * pten non-pathogenic variants (vous or benign/likely benign vatiants) * no signed informed consent

Keywords: pten pths
expanded use of cannabidiol oral solution

Conditions: Refractory Epilepsy

Summary: to allow subjects who have completed insys 030 extension study to continue to take cannabidiol oral solution.

to allow subjects who have completed insys 030 extension study (a multicenter, open-label, flexible dose study to assess the long-term safety of pharmaceutical cannabidiol oral solution as an adjunctive treatment for pediatric subjects with a treatment-resistant seizure disorder who complete ins011-14-029 or part a of ins011-15-054) to continue to take cannabidiol oral solution.

Eligibility criteria:
inclusion criteria: 1. completed the insys 030 protocol 2. compliant in drug study procedures 3. non-pregnant females of child bearing age, willing to utilize a double-barrier method of birth control during treatment and for 30 days after treatment has ended exclusion criteria: 1. failure to follow study procedures in insys 030 2. pregnant females
kisspeptin in the evaluation of delayed puberty

Conditions: Delayed Puberty; Kallmann Syndrome; Hypogonadotropic Hypogonadism; GnRH Deficiency

Summary: the goal of this study is to test whether the hormone kisspeptin has the potential to prospectively diagnose adolescents with self-resolving or permanent delayed puberty. some children with delayed puberty will eventually enter puberty on their own. however, some children with delayed puberty have a permanent condition and require medical treatment to undergo puberty. right now, there is no reliable diagnostic tool to tell whether a child's delayed puberty will be self-resolving or permanent. the hormone kisspeptin has the potential to prospectively diagnose adolescents with self-resolving or permanent delayed puberty.

the investigators are seeking boys (ages 13.5-17 years) and girls (ages 12-17) years with a diagnosis of delayed puberty. study participation involves 2 outpatient visits and two hospital admissions (one 11-hour, overnight admission and one 6-hour day admission) when subjects will receive two investigational drugs, the naturally occurring hormones kisspeptin and gonadotropin-releasing hormone (gnrh). subjects will then be followed every 6 months until they reach 18 years of age to determine if their pubertal delay was self-resolved or permanent.

Eligibility criteria:
inclusion criteria: adolescent boys * ages 13.5-17 years * testicular volume \<4 ml or 4-8 ml with no change in the past 6 months by prader orchidometer * first morning (before 9am) lh \<2 miu/ml and testosterone \<50 ng/dl adolescent girls * ages 12-17 years * tanner stage i or ii breast development with no change in the past 6 months * first morning (before 9am) lh \<2 miu/ml and estradiol \<20 pg/ml all subjects: * bone age less than chronological age * weight ≥ 28 kg * body mass index \>10th percentile and \<+3 sds for bone age * blood pressure \>5th percentile and \<95th percentile for bone age and height * white blood cell counts, platelet counts, electrolytes, thyroid stimulating hormone (tsh), free thyroxine (t4) within reference range for age * erythrocyte sedimentation rate \<2x the upper limit of the reference range for age * hemoglobin within reference range for girls of the same chronological age * blood urea nitrogen (bun), creatinine, prolactin not elevated * aspartate aminotransferase (ast) and alanine aminotransferase (alt) no more than 2x the upper limit of the reference range * insulin-like growth factor 1 (igf-1) within reference range for bone age exclusion criteria: all subjects: * history or presence of underlying condition that could cause delayed puberty (chronic illness, weight loss, abnormal cranial magnetic resonance imaging (mri)) * history of an allergic drug reaction

Keywords: delayed puberty kallmann syndrome hypogonadotropic hypogonadism gnrh deficiency kisspeptin gnrh
molecular profiling of advanced biliary tract cancers

Conditions: Biliary Tract Cancer

Summary: biliary tract cancer (btc) accounts for \<1% of all cancers, but remains a highly fatal malignancy. surgical resection is the only hope for cure, but most patients present with advanced disease when curative-intent surgery is not possible. the therapeutic options for patients with advanced disease are limited, primarily to chemotherapeutic regimens, which are based on empiric evidence without the use of biomarkers. these current treatment strategies have been largely ineffective in controlling the disease, resulting in poor survival outcomes of less than 1 year. an understanding of the molecular characteristics of biliary tract cancer may enable stratification of patients into therapies that target specific molecular alterations with greater efficacies and improved clinical outcomes. this study aims to investigate the feasibility and clinical utility of prospective molecular profiling of advanced biliary tract cancer. the primary endpoint of this study is to demonstrate the feasibility of returning whole genome sequencing results within 8 weeks of tumour biopsy for second-line treatment consideration (n=30 patients). in parallel, tumour whole transcriptome sequencing will be performed to identify actionable molecular alterations (e.g., fusion transcripts). once the primary endpoint is met, the study will be expanded. current funding allows expansion to 40 patients in total.


Eligibility criteria:
inclusion criteria: * patients must have a histological or radiological diagnosis of inoperable or metastatic btc. * patient must have a tumour that is amenable to a core needle biopsy. * patients must have a measurable lesion by recist 1.1 in addition to the lesion that is going to be biopsied. * patients must be fit to safely undergo a tumour biopsy as judged by the investigator. * eastern cooperative group (ecog) performance status ≤ 1. * life expectancy of greater than 90 days. * within 14 days of the proposed biopsy date, patients must have normal organ and marrow function. * patients must undergo systemic treatment with gemcitabine-based regimens as first-line standard systemic palliative treatment with or without other investigational agents within a clinical trial. * ability to understand and willing to sign a written informed consent document. exclusion criteria: * patients with one or more contraindications to tumour biopsy. * patients who have had any prior chemotherapy or other anti-cancer agent in the advanced stage setting. * patients who are currently on anti-cancer treatment. * patients with known brain metastases. * uncontrolled concurrent illness that would limit compliance with study requirements. * any other condition that would contraindicate the patient's participation due to safety concerns or compliance with clinical study procedures.

Keywords: biliary tract cancer cholangiocarcinoma molecular profiling whole genome sequencing whole transcriptome sequencing
incidence and factors associated with ponv in regional anaesthesia

Conditions: PONV; Regional Anaesthesia

Summary: post-operative nausea and vomiting (ponv) is one of the complications associated with surgery and anaesthesia. the main aim of the study is to determine the incidence of post-operative nausea and vomiting among surgical patients undergoing regional anaesthesia and the factors associated with it. patients above the age of 18 who have consented and are undergoing surgery under regional anaesthesia will be enrolled into the study over 6months. they will then be observed for up to 24 hours post operatively to determine the incidence of ponv and factors associated with it.

post-operative nausea and vomiting (ponv) is one of the complications associated with surgery and anaesthesia. due to advanced techniques in the field of anaesthesia and surgery, patients are commonly operated on under regional anaesthesia (ra) rather than general anaesthesia (ga). post-operative nausea and vomiting (ponv) still occurs with regional anaesthesia, but the incidence and associated factors in our setting remain unknown. an optimal management of ponv is important because they can lead to increased morbidity. the main aim of the study is to determine the incidence of post-operative nausea and vomiting among surgical patients undergoing regional anaesthesia and the factors associated with it. this will be a prospective cohort study. patients aged 18 years and above in whom surgery under regional anaesthesia is planned at mulago hospital will be consented and enrolled into the study over 6months. data will be collected using semi structured and pre-tested questionnaires. patients will be observed for up to 24 hours post operatively to determine the incidence of and factors associated with ponv in regional anaesthesia at mulago hospital. after recruitment, patients will be followed up once at 24 hours post-operatively. results from this study will determine the incidence of post-operative nausea and vomiting in surgical patients undergoing regional anaesthesia and the associated factors, data which we do not have in our setting. this will help to guide practice on the prevention and management of post-operative nausea and vomiting.

Eligibility criteria:
inclusion criteria: * patients undergoing regional anaesthesia for emergency or elective surgery. * patients aged 18 years and above. * asa class 1, 2, 3 and 4 patients exclusion criteria: * patients who are switched to general anaesthesia after planned regional anaesthesia. * patients with pre-existing nausea and vomiting from co-morbidities.

Keywords: ponv regional anaesthesia lmic
effect of sglt2 inhibitor on blood glucose profile in type 2 diabetic patients using basal insulin

Conditions: Type2 Diabetes

Summary: the change of glycemic variation and insulin dose after adding sglt2 inhibitor in type 2 diabetic patients treated with basal insulin was observed in a single center.


Eligibility criteria:
inclusion criteria: 1. patients with t2dm, which was defined bypublished criteria of world health organization in 1999; 2. patients were using glargine with or without oral hypoglycemic drugs and having a stable dose of glargine for more than 2 month would be recruited into this study; 3. patients had relatively constant diet and exercise in 2 month before the study. 4. fasting blood glucose was between 6.1 and 16mmoll, and postprandial (or random) blood glucose \<22.2mmol/l exclusion criteria: 1. patients with severe cardiovascular diseases, such as stroke, transient ischemic attack, myocardial infarction, unstable angina, coronary artery bypass grafting, percutaneous coronary intervention, and heart failure; 2. patients with severe infectious diseases; 3. patients with acute complications of diabetes on admission, such as diabetic ketoacidosis, diabetic hyperosmolar nonketotic coma, and lactic acidosis; 4. patients with history of psychiatric disorders and were unsuitable to use cgms; 5. patients used glp-1 analogues，sglt2 or more than once insulin injection in the past 3 months 6. any other situations that made patients unsuitable to participate in the study, such as alcoholism and drug abuse.
study to evaluate the duration of treatment with ertapenem in acute attacks of sigmoid diverticulitis

Conditions: Diverticulitis, Colonic; Acute Disease

Summary: the purpose of this study is to compare the efficacy (by assessing the clinical success of treatment) of intravenous antibiotic therapy with ertapenem in patients with acute attacks of sigmoid diverticulitis for 4 vs. 7 days.


Eligibility criteria:
inclusion criteria: * at least three of the following signs or symptoms of an acute attack of sigmoid diverticulitis must be present: \*fever (body temperature \> 38°c, sublingual), \*abdominal tenderness, \*leukocytosis (leukocytes \> 10,000/µl) and left shift of the differential blood count (\>1% band forms), \*elevated crp (\> 20 mg/l) * evidence of sigmoid diverticulitis by contrast enema * ct evidence of wall thickening in the sigmoid intestine * decision in favor of conservative therapy on the basis of the case history and diagnosis exclusion criteria: * contraindication for the use of the study medication or other beta-lactam antibiotics, e.g. patients with advanced renal impairment or patients requiring hemodialysis * antibiotic therapy in the two weeks prior to the start of the study * patients with an advanced incurable disease * patients with a hematologic/oncologic disease (leukemia, lymphoma) * patients on immunosuppressants * complications of sigmoid diverticulitis leading to an immediate indication for surgery * patients who have hypersensitivity to beta-lactam antibiotics * female patients who are pregnant or nursing or who could become pregnant during the study * participation in another clinical study or use of another study drug within the four weeks prior to enrollment in the study or use of another drug during the study * each patient can be enrolled only once in the study

Keywords: diverticulitis invanz ertapenem acute attacks sigmoid diverticulitis acute attacks of sigmoid diverticulitis
proof of concept study to investigate etokimab (anb020) activity in adult participants with severe eosinophilic asthma

Conditions: Eosinophilic Asthma

Summary: this is a proof of concept study designed to assess the effects of a single intravenous dose of etokimab compared to placebo in adult participants with severe eosinophilic asthma. this study will also assess the safety and tolerability of etokimab in adult participants with severe eosinophilic asthma.


Eligibility criteria:
inclusion criteria: * participants with a confirmed clinical diagnosis of eosinophilic asthma * history of diagnosis of eosinophilic asthma * severe asthma diagnosed according to the global initiative for asthma (gina) 2016 * body mass index (bmi) of 18 to 38 kilograms per squared meters (kg/m\^2) (inclusive) and total body weight \> 50 kg (110 pounds) * women of childbearing potential must have a negative serum pregnancy test at screening and be willing to use highly effective methods of contraception throughout the study * male participants must be willing to use effective methods of contraception during the entire study period. * participant must be on high dose inhaled corticosteroids (ics) plus long-acting beta-2-agonists (laba) * willing and able to comply with the study protocol requirements * have the ability to read and understand the study procedures and can communicate meaningfully with the investigator and staff exclusion criteria: * have concomitant medical condition(s) which may interfere with the investigator's ability to evaluate the participant's response to the investigational product (ip) * have experienced severe life threatening anaphylactic reactions * have received any ip within a period of 3 months or 5 half lives of an ip * have received high dose systemic corticosteroids * have received treatment with biologics, such as mepolizumab or omalizumab, within 3 months or 5 half lives (whichever is longer) before screening * abnormal electrocardiogram (ecg) assessment at screening * uncontrolled hypertension, or acute ischemic cardiovascular diseases * if female, is pregnant or lactating, or intend to become pregnant during the study period * history (or suspected history) of alcohol or substance abuse within 2 years before screening * any comorbidity that the investigator believes is a contraindication to study participation * have any other physical, mental, or medical conditions which, in the opinion of the investigator, make study participation inadvisable or could confound study assessments * planned surgery during the study or 30 days before screening * history of malignancy within 5 years, except non melanoma skin cancer which has been fully treated with no current active disease
the influence of dual task and gait speed on gait variability in patients with chronic ankle instability

Conditions: Chronic Instability of Joint

Summary: case-control study to evaluate gait parameters during different conditions between patients who suffer from chronic ankle instability and healthy individuals.

this case-control study will compare the different gait parameters such as stride time and stride length variability in different gait conditions (e.g., normal speed, normal speed with dual task, fast speed and fast speed with dual task) between healthy individuals and patients who suffer from chronic ankle instability. the measurements will be collected using the optogait system installed on a treadmill.

Eligibility criteria:
inclusion criteria: * history of at least one significant ankle sprain which occurred at least 12 months prior to enrolment in the study and was diagnosed by a physician or a physical therapist using clinical examination classifications described by malliaropoulos et al * history of at least two episodes of 'giving way', and feelings of ankle joint instability in the previously injured ankle joint of 1 year post-initial sprain * the most recent injury occurred more than 6 weeks prior to the study enrolment * the ability to apply full weight bearing on the injured lower extremity with no more than mild discomfort exclusion criteria: * evidence of a concomitant injury (such as a bony injury or significant muscular/tendon injury) * previous ankle surgery * other pathological conditions or surgical procedures in lower extremity * neurological/vestibular or any other balance disorder. the control group included healthy participants with no current or previous conditions that could affect proprioception.
teenage health and wellness study

Conditions: Stress; Externalizing Symptoms; Depression Symptoms; Anxiety

Summary: this study evaluates the effects of mindfulness on physiological stress mechanisms implicated in externalizing behaviors and symptoms of affective and traumatic stress among urban adolescents. program effects on stress physiology will be evaluated using pre- and post-tests of heart rate variability (hrv) during a stress task. emotional and behavioral outcomes will be measured using student and teacher ratings.

low-income urban adolescents experience high rates of adversity and trauma exposure, increasing their risk for stress-related problems, including externalizing behaviors and affective and traumatic stress symptoms. these outcomes are associated with dysregulated physiological responses to stress, both in the laboratory and real-world contexts. the neuroplasticity that typifies adolescence heightens vulnerability to stress effects on various brain and body systems. on the other hand, the same neurodevelopmental features also suggest pathways for overcoming and altering stymied trajectories through targeted interventions that leverage the brain's plasticity. thus, adolescence affords a window of opportunity to reinforce parasympathetic modulation of stress responses, enhancing capacities for emotion regulation and, in effect, protecting against the development of behavioral and affective problems. there is growing empirical support for the ability of mindfulness-based programs to improve stress management in adults, leading to improved well-being, coping and prosocial behavior. evidence suggests that mindfulness influences homeostatic systems that modulate neurophysiological responses to stress in the service of emotion regulation. indeed, neuroimaging studies in adults have established that mindfulness measurably improves brain function, demonstrating the alterability of these mechanisms. no such data have been collected for youth, nor have the psychophysiological mechanisms underlying mindfulness program effects for disadvantaged urban youth been rigorously evaluated. the proposed research thus has potential to substantively advance understanding of mindfulness mechanisms of effects and also to facilitate optimization of mindfulness programming so that it has maximum benefits for urban youth. this study evaluates the effects of mindfulness on physiological stress mechanisms implicated in externalizing behaviors and symptoms of affective and traumatic stress among urban adolescents. program effects on stress physiology will be evaluated using pre- and post-tests of heart rate variability (hrv) during a stress task. emotional and behavioral outcomes will be measured using student and teacher ratings.

Eligibility criteria:
inclusion criteria: * must be in the 9th grade at one of the baltimore city public schools participating in the study * must provide parental permission and assent. exclusion criteria: * students in foster care * students in self-contained special education classrooms

Keywords: mindfulness; stress physiology; urban youth