Kornimate/medical-research-clean huggingface dataset:
compassionate treatment of patients with inborn errors of bile acid metabolism with cholic acid

Conditions: Infantile Refsum's Disease; Zellweger Syndrome; Adrenoleukodystrophy; Peroxisomal Disorders; Cholestasis

Summary: objectives: i. to evaluate the therapeutic efficacy of cholic acid during provision of compassionate treatment to patients with identified inborn errors of bile acid synthesis and metabolism ii. to assess the safety and tolerability of cholic acid

investigational plan: a phase iii, open label, single arm, nonrandomized, non-comparative, compassionate treatment study of cholic acid in the treatment of defects of bile acid metabolism. the study was begun with a single study site at cincinnati children's hospital medical center (cchmc), but in 2005 was expanded so that compassionate treatment could be provided to additional patients who had been identified with inborn errors of bile metabolism through the center's screening/diagnostic program. patients who were screened were contacted and evaluated with respect to the inclusion/exclusion criteria. signed informed consent by the patient and/or parents/legal guardian was obtained as soon as it is confirmed that the patient met inclusion/exclusion criteria and the parents/guardian would agree for the child to participate in the study. the primary interventions for the study were: 1. administration of study drug. 2. collection of baseline physical exam, vital signs, blood and urine samples for laboratory tests. 3. collection of periodic physical exam, vital signs, blood and urine samples for laboratory tests during the period of administration of the study drug. 4. collection of any adverse event information. time and events schedule: baseline: 1. confirm eligibility 2. obtain written informed consent from patient and/or parents/legal guardian 3. collect demographic data and disease and medication history, including family history baseline and ongoing: 4. obtain body weight 5. record adverse events 6. obtain blood and urine samples for laboratory tests 7. initiate study drug therapy \& monitor study drug therapy and adjust dose as needed

Eligibility criteria:
protocol entry criteria: --disease characteristics-- clinical or biochemical evidence of liver disease, unexplained fat-soluble vitamin malabsorption, or peroxisomal dysfunction that compromises bile acid biosynthesis inclusion criteria for enrollment were: * infants \< age 3 months * children presenting for evaluation of cholestasis defined as a conjugated bilirubin \> 2mg/dl or increased serum bile acids * older subjects of any age with cholestatic liver disease if urine screens suggested that they had inborn errors of bile acid metabolism * confirmation of a diagnosis of an inborn error of bile acid synthesis based upon urine analysis by fab-ms to determine whether specific abnormalities in bile acid synthesis are indicated * the patient and/or parent/legal guardian must have signed the written informed consent document before study start. * the patient must be willing and able to comply with all study assessments and procedures.
intranasal lidocaine to treat pediatric migraine in the emergency department

Conditions: Migraine

Summary: the purpose of the study is to determine the effect of intranasal lidocaine on pain score in pediatric patients with migraine. patients with significant pain after oral analgesics and plan for intravenous (iv) abortive therapy will be asked to participate. half of patients will be given intranasal lidocaine and the other half will be given placebo. pain scores and associated migraine symptoms (i.e. nausea, vomiting, photophobia, phonophobia, avoidance of activities, and aura) will be monitored and compared between the groups.

this will be a double-blinded, randomized-controlled trial using intranasal lidocaine to provide fast-acting pain relief in pediatric patients presenting with migraine to an urban pediatric emergency department (ed). typically, abortive therapy for migraine in many emergency departments begins with oral analgesics such as ibuprofen and acetaminophen. however, many patients with inadequate pain relief after oral analgesics will require intravenous (iv) medications to abort their migraine symptoms. these medications can take up to thirty minutes or more for the onset of action to begin, potentially leaving patients in significant pain during that time. also, obtaining iv access in children can be time-consuming and technically difficult, further delaying time to pain relief. subjects will be given either intranasal lidocaine or placebo while awaiting iv placement and iv metoclopramide administration. pain scales and associated migraine symptoms will be compared between the two arms before study medication administration and again at 5, 10, and 20 minutes.

Eligibility criteria:
inclusion criteria: * patients who will be receiving iv metoclopramide because their migraine is refractory to oral analgesics, as determined by the treating physician. * moderate to severe headache with nrs score greater than or equal to 6 * headache lasting between 2-72 hours * two of the following: 1. non-occipital location of headache (frontal, frontotemporal, or unilateral) 2. pulsating or throbbing quality 3. aggravated by or causing avoidance of routine physical activity 4. nausea, vomiting, or both 5. photophobia and/or phonophobia (may be inferred from behavior) exclusion criteria: * unstable vital signs * pregnancy * lactating * altered mental status * developmental delay * intractable vomiting * first-time headache * history of cardiac arrythmia * previous adverse reaction or allergy to lidocaine * non-english speaking

Keywords: pediatrics intranasal lidocaine migraine headache emergency department pain
il-12rb and tnf-alpha gene polymorphism and susceptibility and progress of covid-19 sars-cov-2: a case control study

Conditions: Covid-19

Summary: a novel coronavirus was identified in late 2019 in wuhan, china on 11 february, the international committee on taxonomy of viruses (ictv) announced that the official classification of the new coronavirus (2019-ncov) is called severe acute respiratory syndrome coronavirus 2 (sars-cov-2). the world health organization (who) announced on the same day that the official name of the disease caused by the virus is corona virus disease-19 (covid-19). who has declared the infection a pandemic on march 11, 2020. based on previous studies on sars in 2003 and sars-mers 2013 there was a genetic polymorphism associated with the susceptibility and severity of the disease. interleukin-12 (il-12) is a cytokine secreted by activated phagocytes and dendritic cells. it plays a pivotal role in promoting th1-type immune responses and cell-mediated immunity. il-12 triggers many biological functions: it stimulates the proliferation of activated t- and nk-cells, enhances t- and nk-cell-mediated cytolytic activity, and induces the production of ifn-γ by both t-and nk-cells. the interferon-γ production induced by il-12 forms a major link between innate and adaptive immunity. a recent study revealed that interferon-mediated immunopathological events are associated with atypical innate and adaptive immune responses in sars patients. also, tnf-α is a key mediator of the inflammatory response and is critical for host defense against a wide variety of pathogenic microbes. however, the over-expression of this cytokine may lead to badness in disease recovery. the dual role of tnf, acting as an agent of both innate immunity and inflammatory pathology, poses a considerable challenge for gene regulation.


Eligibility criteria:
inclusion criteria: * patients with confirmed covid-19 pcr ( mild, moderate and severe cases) admitted to wards or icu assiut university hospitals exclusion criteria: * suspected or non confirmed cases of covid-19

Keywords: covid-19 corona virus disease sars-cov-2 il-12 rb gene polymorphism tnf gene polymorphism
uniting couples in the treatment of binge-eating disorder

Conditions: Binge-Eating Disorder

Summary: the purpose of this study is to test the feasibility, acceptability, and preliminary effectiveness of a novel couple-based intervention for binge-eating disorder (bed) relative to an established evidence-based individual treatment (cognitive-behavioral therapy-enhanced; cbt-e) in a community clinic setting.

clinicians' options for bed treatment are inadequate. treatments for bed have demonstrated efficacy in controlled settings with specialist therapists and expert supervision, but much less in known about the effectiveness of bed interventions and whether the transition of evidence-based treatments to the community results in poorer outcomes. unite activates a key resource by incorporating an important part of the patient's social environment (the partner) into treatment. the investigators hypothesize that unite will show preliminary evidence of being superior to cbt-e in achieving binge abstinence via engaging ed-related relationship targets, including improved (a) communication around the disorder, (b) disorder-specific interpersonal problem-solving/ behavioral change skills, and (c) partner-assisted emotion regulation. the investigators will assess targeted relationship domains with observational and speech prosody measures during clinic interactions and self-reports reflecting experiences outside the clinic. because the couple is learning how to work together to address bed, the investigators hypothesize that maintenance of gains will show evidence consistent with superiority in unite.

Eligibility criteria:
inclusion criteria: * current diagnostic and statistic manual (dsm-5) criteria for binge-eating disorder (patient only) * at least 18 years of age * english speaking and able to read * in a committed relationship for at least 6 months regardless of sexual orientation * live with partner (or are interact with each other daily) * partner willingness to participate in treatment * able to travel to chapel hill, north carolina weekly for treatment exclusion criteria: * alcohol or drug dependence in the past year * current anorexia nervosa * current significant suicidal ideation with active suicidal intent * severe depression that would seriously interfere with functional capacity * developmental disability that would impair the ability to benefit from the intervention * any psychosis, schizophrenia, or bipolar i disorder, unless stably remitted on maintenance therapy for at least 1 year * moderate to high reported levels of physical violence from either partner * unwillingness to forgo non-protocol concurrent couple therapy or individual therapy (patient only) * previously participated in the unite pilot trial

Keywords: binge-eating disorder eating disorders couple therapy cbt
identification of novel genetic factors that contribute to risk for breast cancer

Conditions: Invasive Breast Cancer

Summary: the purpose of this study is to identify novel genetic factors which distinguish breast cancer in younger women compared to older women. by identifying these novel genetic factors we believe more specific therapies can be developed and breast cancer may be prevented among women with an increased cancer risk. a woman does not have to live in st. louis to participate.

breast cancer takes its greatest toll on younger women, as it is the leading category of cancer deaths for women 20-39 years of age. sadly, survival rates are lowest among women diagnosed at a young age. this impact is most significant among african-american women who have the highest incidence and mortality rate among women less than 45 years of age. the goal of our program is to identify the genetic factors which distinguish breast cancer in younger women compared to older women. women who were diagnosed with invasive breast cancer 40 years of age or younger are invited to participate. the age at diagnosis is used to determine eligibility, not a woman's current age. women who have undergone genetic testing of the brca1, brca2, p53, pten, e-cadherin, or lkb1 genes are eligible to participate. young women with breast cancer are asked to: sign a consent form, submit a sample of blood, release their cancer related records, and answer some family history questions. we will use a family based case control approach in our analysis. as such, if a woman's parents are living, they will be invited to participate as a "comparison" group. the parents are asked to: sign a consent form, submit a sample of blood, and release any cancer records. a woman does not have to live in st. louis to participate. all study related materials can be mailed directly to the young woman or her parents. there is no expense to the family. all materials are kept strictly confidential and participation is completely voluntary.

Eligibility criteria:
inclusion criteria: * women diagnosed with invasive breast cancer 40 years of age or younger. if their parents are living, the parents are also invited to participate, regardless of their history of cancer. exclusion criteria: * women diagnosed with in-situ breast cancer.

Keywords: breast cancer young women
hyaluronan versus nacl 20 ml versus placebo in knee osteoarthritis

Conditions: Osteoarthritis, Knee

Summary: 251 consecutive patients with knee arthrosis were randomized to one of three interventions: four weekly injections of 2 ml isotonic saline (placebo), 2 ml sodium hyaluronate (hyaluronan) or 20 ml isotonic saline (excessive saline). they all suffered from clinically and radiologically verified arthrosis of the knee with daily pain that did not respond to treatment with analgetics. results were evaluated at weeks 1,2,3,4,8,12,16 and 26. biochemical markers for bone and cartilage degradation were measured in urine/blood.


Eligibility criteria:
inclusion criteria: * patients, men/women age \> 60 years with clinical, * radiological and possible arthroscopical verified knee osteoarthritis. * knee pain on the day of examination scoring more than 20 mm on a visual analogue scale (vas) at baseline. exclusion criteria: * age below 60 * unconsciousness * psychosis * demens * ingestion of drugs that may influence the results of the clinical examinations * inflammatory diseases of the joints * rheumatoid arthritis or other inflammatory arthritis as diagnosed by american college of rheumatology criteria * contraindication to hyalgan treatment * previous intraarticular fracture of a knee joint * infection or skin disease located at the place of injection and invasive procedures done to the knee joint within previous two months inclusive intra-articular injections of steroids. * any other condition that might interfere with the efficacy assessment or completion of the trial.

Keywords: hyaluronan gonarthrosis osteoarthritis,knee double-blinded placebo controlled randomised
a study to evaluate the efficacy, safety and pharmacokinetics/pharmacodynamics (pk/pd) of ocrelizumab in patients with rheumatoid arthritis

Conditions: Rheumatoid Arthritis

Summary: this study will evaluate the efficacy, safety and pk/pd of ocrelizumab at each dose in combination with methotrexate（mtx）in patients with active rheumatoid arthritis (ra). the data from this study will also be compared with those from a clinical study of ocrelizumab in patients with active ra that was conducted in the u.s.

this study will evaluate the efficacy, safety and pk/pd of ocrelizumab at each dose in combination with mtx in patients with active ra. the data from this study will also be compared with those from a clinical study of ocrelizumab in patients with active ra that was conducted in the u.s.

Eligibility criteria:
inclusion criteria: * diagnosis of ra for ≧6 months according to the revised 1987 acr criteria for the classification of ra. * adult patients, ≧20 years of age. * receiving methotrexate at a dose of 6 to 8mg/week（oral）for ≧12 weeks, with a stable dose for the last 4 weeks before treatment. * positive serum rf. exclusion criteria: * rheumatic autoimmune disease other than ra, or significant systemic involvement secondary to ra (including but not limited to vasculitis, pulmonary fibrosis, or felty's syndrome).patients with secondary sjögren's syndrome or secondary limited cutaneous vasculitis with ra are eligible. * functional class ⅳ as defined by the acr classification of functional status in ra. * history of or current inflammatory joint disease other than ra (e.g., gout, reactive arthritis, psoriatic arthritis, seronegative spondyloarthropathy, lyme disease) or other systemic autoimmune disorder (e.g., systemic lupus erythematosus, inflammatory bowel disease, scleroderma, inflammatory myopathy, mixed connective tissue disease or other overlap syndrome). * any surgical procedure (except for minor surgeries requiring local or no anaesthesia and without any complications or sequelae) within 12 weeks prior to or planned within 24 weeks after baseline.
tumor response to pemetrexed disodium in patients with stage iii or stage iv non-small cell lung cancer enrolled in clinical trial mccrc-rc0524

Conditions: Lung Cancer

Summary: rationale: studying samples of blood in the laboratory from patients receiving pemetrexed disodium may help doctors learn more about the effects of pemetrexed disodium on cells. it may also help doctors understand how well patients respond to treatment. purpose: this laboratory study is looking at blood samples from patients with stage iii or stage iv non-small cell lung cancer enrolled in clinical trial mccrc-rc0524 to determine the effect of pemetrexed disodium on cells.

objectives: primary * assess the intracellular level of pemetrexed disodium (pd) polyglutamates as a measure of activity of pd transport and activation enzymes in patients with stage iii or iv non-small cell lung cancer enrolled in clinical trial mccrc-rc0524. secondary * assess polymorphisms and gene expression of pd target genes and genes encoding enzymes involved in the transport, activation, and inactivation of pd in these patients. * correlate haplotype-tagged single-nucleotide polymorphisms (htsnps) and gene expression levels with intracellular levels of pd polyglutamates * correlate htsnps and gene expression levels with toxicity and efficacy of pd. outline: blood is drawn prior to and 24 hours after day 1 of course 1 of pemetrexed disodium. dna is extracted and genotyped for known polymorphisms in genes involved in the transport, activation, inactivation, and mechanism of action or resistance of pemetrexed disodium, including reduced folate carrier-1, multiresistance proteins (particularly mrp5), folate receptor, folypolyglutamate synthase, methylenetetrahydrofolate reductase (mthfr), methionine synthase, methylthioadenosine phosphorylase, thymidylate synthase (ts), dihydrofolate reductase, and glycinamide ribonucleotide formyltransferase. plasma and red blood cells are also processed for an intracellular polyglutamate assay for pemetrexed disodium by a high-performance liquid chromatography-based method. projected accrual: a total of 80 patients will be accrued for this study.

Eligibility criteria:
disease characteristics: * enrolled in clinical trial mccrc-rc0524 * willing to provide blood samples patient characteristics: * no investigator site personnel directly affiliated with the study, or immediate family of investigator site personnel directly affiliated with the study * immediate family is defined as a spouse, parent, child, or sibling, whether biological or legally adopted * not employed by eli lilly (i.e., employee, temporary contract worker, or designee responsible for conducting the study) * immediate family of eli lilly employees allowed, but may not participate at an eli lilly facility prior concurrent therapy: * see disease characteristics

Keywords: stage iiib non-small cell lung cancer stage iv non-small cell lung cancer recurrent non-small cell lung cancer
genetic studies of strabismus, congenital cranial dysinnervation disorders (ccdds), and their associated anomalies

Conditions: Congenital Fibrosis of Extraocular Muscles; Duane Retraction Syndrome; Duane Radial Ray Syndrome; Mobius Syndrome; Brown Syndrome; Marcus Gunn Syndrome; Strabismus Congenital; Horizontal Gaze Palsy; Horizontal Gaze Palsy With Progressive Scoliosis; Facial Palsy; Facial Paresis, Hereditary, Congenital; Third Nerve Palsy; Fourth Nerve Palsy; Sixth Nerve Palsy; Synkinesis; Ocular Motility Disorders; Levator-Medial Rectus Synkinesis; Athabaskan Brainstem Dysgenesis; Tongue Paralysis; Ninth Nerve Disorder; Fifth Nerve Palsy; Seventh Nerve Palsy; Eleventh Nerve Disorder; Twelfth Nerve Disorder; Vagus Nerve Paralysis; Moebius Sequence

Summary: the purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

if left untreated or unrecognized, strabismus or misalignment of the eyes, can impair the development of normal vision and is recognized to be an inherited trait in some families. the engle lab has investigated the genetics of complex and common strabismus and eyelid movement disorders for over 10 years and the lab's interests have expanded to include congenital cranial dysinnervation disorders (ccdds) which are neurological disorders affecting one or more of the 12 cranial nerves. cranial nerves control bodily functions such as movement of the eyes, transmission of visual information, smell, facial sensation, facial expression, blinking, hearing, balance, taste, chewing and swallowing. based on genetic studies on individuals with eye movement and eyelid disorders, the lab learned that some individuals have additional ocular defects, vascular, limb and other abnormalities. in addition, in some families relatives who carry the gene mutation may manifest the familial syndrome by having only some additional features but not the oculomotility disorder. therefore, to gain greater understanding of the spectrum of the disorders being investigated, we may also enroll individuals without eye movement or lid defects who have symptoms associated with mutations in congenital cranial dysinnervation disorder (ccdd) genes.

Eligibility criteria:
inclusion criteria: * the engle lab is very interested in enrolling individuals with congenital conditions related to eye movement, cranial nerve and brainstem-based dysfunction, often broadly referred to as congenital cranial dysinnervation disorders (ccdds). exclusion criteria: * individuals with cranial nerve disorders associated with known disorders, such as saethre-chotzen associated with established genetic mutations, or acquired conditions including trauma, stroke, tumor or spinal cord injuries.

Keywords: cfeom (congenital fibrosis of extraocular muscles) ccdd (congenital cranial dysinnervation disorders) drs (duane retraction syndrome) drrs (duane radial ray syndrome) strabismus mgjws (marcus gunn jaw winking syndrome) hgp (horizontal gaze palsy) hgpps (horizontal gaze palsy with progressive scoliosis) moebius