cyrilzakka/clinical-trials huggingface dataset:
Pumilio1 (PUM1) Expression, Sickle Cell Anemia, β-thalassemia Intermedia

1. To study the expression pattern of PUM1 gene in patients with sickle cell anemia and β-thalassemia intermedia.
2. To detect PUM1 protein levels in sickle cell anemia and β-thalassemia intermedia patients.
3. To correlate PUM1 gene expression pattern and protein levels with HbF levels in sickle cell anemia and β-thalassemia intermedia patients.

The disorders of β-hemoglobin, sickle cell disease (SCD) and β-thalassemia, are major causes of morbidity and mortality worldwide. These diseases are the most common genetic disorders in the world.

SCD is due to a single base-pair point mutation in the β-globin gene resulting in the substitution of valine for glutamic acid in the β-globin chain. The pathophysiology is directly related to polymerization of deoxygenated hemoglobin, leading to a cascade of pathologic events including erythrocyte sickling, vaso-occlusion, and hemolysis.

In β-thalassemia, insufficient production of the β-globin molecule results in an excess of free α-globin chains that can precipitate within erythroid precursors, impairing their maturation and leads to death of these precursors and ineffective production of erythroid cells. As a result, a significant anemia occurs and the consequent expansion of erythroid precursors can lead to secondary problems in bones and other organs.

The hemoglobin molecule is a tetramer composed of two subunits of α-like globin peptides and two subunits of the β-like globin peptides, along with heme moieties. β-globin switching from fetal γ-globin (HBG1 and HBG2) to adult β-globin is a developmental process that occurs in erythrocytes at around the time of birth. Fetal hemoglobin (HbF) induction in adult erythrocytes is an effective therapeutic strategy for SCD and β-thalassemia.

Pumilio1 (PUM1) is a novel target of the erythroid master transcription factor erythroid Krüppel-like factor (EKLF). PUM1 is a member of Pumilio-Fem3-binding factor (PUF) family of sequence specific RNA-binding proteins, acts as a posttranscriptional repressor by binding to the 3' untranslated region (3'-UTR) of messenger RNA (mRNA). It peaks during terminal erythroid differentiation and binds to fetal γ-globin (HBG1) mRNA and impairs its stability and translation. HBG1 has 2 core PUM1 consensus binding sites, but HBG2 and adult globins do not. Knockdown of PUM1 leads to a robust increase in HBF (∼22%) without affecting β-globin levels in human erythroid cells. Moreover, targeting PUM1 does not affect erythropoiesis, which provides a potentially safe and effective therapeutic strategy for SCD and β-thalassemia. Also it was found that elevated HbF levels in the absence of anemia in an individual with a novel heterozygous PUM1 mutation in the RNA-binding domain, which suggests that PUM1 is a critical player during human hemoglobin switching.

Eligibility Criteria:
Inclusion Criteria:

* Patients with sickle cell anemia and β-thalassemia intermedia.
* Patients are of both sexes (males and females) at any age.

Exclusion Criteria:

* Patients with any other type of haemolytic anaemias.
* Patients on Hydroxyurea therapy.
Exploring the Relationship Between Alpha-synucleinopathy Related Non-motor Symptom and Post-op. Delirium in Elderly Patients With Spine Surgery

Hypothesis is that the presence of a-synucleinopathy related non motor symptoms could be predictive factor for post-operative delirium. During 72hrs after spine surgery, investigator will observe occurrence of post-operative delirium, and analysis difference of a-synucleinopathy related non motor symptoms between 2 groups.

Postoperative delirium appear approximately 10-70% of patients older than 65 yrs undergoing surgery and it is strongly associated with poor surgical outcome. The clinical characteristics of postoperative delirium are fluctuating attention, visual hallucination, disorganized thought and alter sleep-wake cycles. This is quite similar to core features of α-synuclein-related cognitive disorders such as parkinson's disease dementia and dementia with lewy body. At that point, investigator thought that postoperative delirium is preclinical stage of a-synucleinopathy. In other words, a-synuclein related disorders and postoperative delirium may share an underlying neurochemical change in their pathogenesis.

investigator will recruit age 65 and older patients scheduled to perform spine surgery. The pre-operative evaluation include neurologic exam, baseline cognitive function and a-synucleinopathy related non motor symptoms through Questionnaires.

Eligibility Criteria:
Inclusion Criteria:

1. Age 65 and older patients
2. Scheduled to perform spine surgery in severance hospital

Exclusion Criteria:

1. Previous delirium history
2. Previous chemotherapy or radiotherapy within 1yr due to underlying cancer.
3. Severe hepatic/renal dysfunction
A Post-Market Study for Long-Term Effectiveness and Safety of the NTX100 for RLS

Multi-center post-market, observational study to assess the long-term effectiveness and safety of the NTX100 TOMAC System for patients with Restless Legs Syndrome.

This study will assess the NTX100 TOMAC System's long-term effectiveness and safety in real-world settings. Using a prospective, observational approach, we'll monitor individuals receiving the system as part of standard care through five study visits, collecting data on clinical outcomes, device performance, and adverse events.

Eligibility Criteria:
Inclusion Criteria:

1. The subject possesses the necessary equipment, internet/phone accessibility, and communication ability to complete electronic questionnaires and respond to electronic communications and phone calls from the research staff throughout the in-home portion of the study.
2. The subject has signed a valid, IRB-approved informed consent form, can understand the requirements of the study and instructions for device usage, and can converse in English.
3. Diagnosis of restless legs syndrome.

Exclusion Criteria:

1. The subject is unable or unwilling to comply with study requirements.
Therapy Labs: To Improve Adherence in Internet Based Psychotherapy

This project aims to investigate factors that are important in affecting adherence in internet based Cognitive Behavior Therapy (CBT). It is hypothesized that two intervention-specific variables, Support and Content, are important factors and that maximizing the impact of these would result in improved adherence and potentially in the end also better outcome for participants in internet interventions.

This study centers on people with mild symptoms of stress or worry. Participants are recruited by advertisement and the web. Potential participants are contacted by phone and informed about the study. Written informed consent is collected through mail from those who are interested in participating. They are asked to answer all the instruments of the study via a secure internet portal used for delivering the intervention. If they do not fulfill the exclusion criteria they are randomized to one of four conditions. When the intervention has ended participants are asked to fill out all the instruments and again at four week follow up. To find significant (p\<.05) results on the primary outcome variables with estimated medium effect sizes, pair-wise comparisons, a power of .80 and allowing for 10% attrition, forty participants are needed in each condition.

The intervention used in this project will be a standard program of applied relaxation that has been used and empirically tested in previous clinical studies. Since the aim of the present project is to investigate factors that affect adherence rather than the intervention effect, the investigators will use a well tested intervention with known effects on symptoms of stress and anxiety. Previous studies have shown that self help with applied relaxation can have a positive effect on for example stress, anxiety and sleep. By providing an intervention that is beneficial, credible and relevant for people with mild symptoms of stress and anxiety it would be possible to investigate how manipulating different factors of the intervention affects the adherence. Applied relaxation will in this intervention consist of a four-week program provided via the Internet. The exact composition of the intervention will be slightly different in each condition depending on the research question, see below. The program includes four steps; tension sensitivity training, long relaxation, short relaxation and applied relaxation. Each week includes information, assignments and support via the secure internet portal.

Eligibility Criteria:
Inclusion Criteria:

* Self-reported mild to moderate symptoms of stress or worry

Exclusion Criteria:

* insufficient mastery of Swedish language
* elevated symptoms of anxiety or depression that warrant clinical care
* other medical or mental illness that need immediate clinical attention
* no daily access to computer, internet and cell phone
COVID19 Hospitilized in Clinica Pasteur of Neuquen (Argentina)

retrospective cohort (non-experimental study) of COVID 19 patients assisted in hospitalization (severe and critical) between 2020 and 2021

Consecutive patients with acute infection by SARS-COV2 and severe or critical COVID19 disease, or acute complications, hospitalized in the Pasteur Clinic of Neuquén city from the beginning of the pandemic in the region until December 31, 2021. Data were obtained retrospectively from information registered simultaneously with hospitalization in three databases (RedCap, DataTech and Excel).

. Inclusion criteria

* Adult patients (over 18 years old)
* Suffering from acute infection by SARS-Cov2, diagnosed by PCR-real time, detection of viral antigen, specific antibodies with or clinical epidemiological criteria
* Hospitalized defined by attending physicians or referral (severe or critical according to NIH) Exclusion criteria
* Patients under 18 years of age.
* Convalescent from acute SARS-Cov2 infection and without evidence of a new event of reinfection.
* Outpatient management or hospitalization less than 24 hours for diagnosis and / or evaluation of severity or complications. Sample Selection Method First patient was registered at the beginning of the pandemic in the region March 20, 2020) and is expected to recruit the las patient diagnosed in December 31, 2021.

The recruitment is consecutive without other selection criteria.

Eligibility Criteria:
Inclusion Criteria:

* Adult patients (over 18 years old)
* Suffering from acute infection by SARS-Cov2, diagnosed by PCR-real time, detection of viral antigen, specific antibodies with or clinical epidemiological criteria
* Hospitalization defined by attending or referral physician (severe or critical according to NIH)

Exclusion Criteria:

* Patients under 18 years of age.
* Convalescent from acute SARS-Cov2 infection and without evidence of a new event reinfection.
* Outpatient management or hospitalization less than 24 hours for diagnosis and / or evaluation of severity or complications.
Protein S Activity in Women With Unexplained Infertility

This study will add:

Finding out an association between Protein S activity and unexplained female infertility.

Aim:

Study hypothesis:

In women with unexplained infertility protein S activity may be low.

Study question:

In women with unexplained infertility does protein S activity low?.

This study aims to assess the activity of protein S activity in women with unexplained infertility.

Objectives:

The main objective of this study is:

To determine the prevalence of Protein S activity with unexplained female infertility and to compare its prevalence in fertile women among women attending outpatient clinics at Ain Shams University Maternity Hospital.

1. Type of Study: Case Control Study.
2. Study Setting: Ain Shams University Maternity Hospital: outpatient Infertility clinic and outpatient gynecology clinic.
3. Study Population: The study will include women with unexplained infertility (Group 1; cases) and fertile women who got pregnant and delivered at least once in the previous year with no history of recurrent abortions nor history of secondary infertility (Group 2; control).

Group 1: Will include 30 women with unexplained primary infertility; will be recruited from the outpatient infertility clinic.

Group 2; another 30 fertile women who got pregnant and delivered at least once in the previous year with no history of recurrent abortions; will recruited from outpatient gynecology clinic as control.

According to inclusion and exclusion criteria listed below.

Inclusion criteria:

1. Age: 18 - 35 years old.
2. Normal husband's semen analysis, (WHO criteria):

   1. Count ≥ 15 million/ml.
   2. Motility: ≥ 40%
   3. Morphology: ≥ 4% normal morphology.
3. Documented ovulation.
4. Normal Follicle Stimulating Hormone, Luteinizing Hormone, Thyroid Stimulating Hormone, serum prolactin.
5. Patent Fallopian tubes.
6. Normal uterine cavity.

Exclusion criteria:

1. Patients aged less than 18 years or more than 35 years old.
2. Secondary infertility
3. Presence of male factor infertility
4. Anovulatory cycles.
5. Tubal block; Tubal disease is an important cause of infertility and should be speciﬁcally excluded.
6. Medical disorder that might affect pregnancy (e.g.: Diabetes, Thyroid dysfunction)
7. Patients with recurrent abortion.

Eligibility Criteria:
Inclusion Criteria:

1. Age: 18 - 35 years old.
2. Normal husband's semen analysis, (WHO criteria):

   1. Count ≥ 15 million/ml.
   2. Motility: ≥ 40%
   3. Morphology: ≥ 4% normal morphology.
3. Documented ovulation.
4. Normal Follicle Stimulating Hormone, Luteinizing Hormone, Thyroid Stimulating Hormone, serum prolactin.
5. Patent Fallopian tubes.
6. Normal uterine cavity.

   -

Exclusion Criteria:

1. Patients aged less than 18 years or more than 35 years old.
2. Secondary infertility
3. Presence of male factor infertility
4. Anovulatory cycles.
5. Tubal block; Tubal disease is an important cause of infertility and should be speciﬁcally excluded.
6. Medical disorder that might affect pregnancy (e.g.: Diabetes, Thyroid dysfunction)
7. Patients with recurrent abortion. -
Hemi Artificial Hipjoint Versus Total Artificial Hipjoint

This is a Randomized Controlled Trial study comparing hemialloplastik versus total joint replacement.

Seventy patients over seventy years who are admitted in our hip fracture department with the indication for hemi joint replacement therapy, due to a Garden 3-4 femoral neck fracture or a fracture Garden 1-2 with over 20-degree posterior tilt are randomized to either hemialloplastik or total joint replacement. The patients are followed for 24 mouths with X-ray Stereo Photogrammetric Analysis (RSA) radiographs and clinical examinations.

Eligibility Criteria:
Inclusion Criteria:

* Patients over 70 years, admitted two our hip-fracture department with a 3-4 Garden femoral neck fracture or a fracture Garden 1-2 with over 20-degree posterior tilt.

  * Preoperative New Mobility Score ≥ 6th
* Patients must be able to speak and understand Danish.
* Patients must be able to give informed consent and be cognitively intact (Hindsøe score ≥ 6).
* Patients should be expected to be able to implement the postoperative controls. Patients should not be medically ill: ASA-score ≤ 3rd
Refitting Somofilcon A Sphere Contact Lens Wearers Into Fanfilcon A Sphere Lenses for 4-Weeks of Wear

The aim of this subject-masked prospective study is to evaluate the clinical performance of habitual wearers of Clariti Elite sphere lenses after a refit with Avaira Vitality sphere lenses.

The aim of this subject-masked prospective study is to evaluate the clinical performance of habitual wearers of Clariti Elite sphere lenses after a refit with Avaira Vitality sphere lenses for 4 weeks of daily wear.

Eligibility Criteria:
Inclusion Criteria:

* Is between 18 and 40 years of age (inclusive)
* Has had a self-reported visual exam in the last two years
* Is an adapted soft contact lens wearer
* Has a contact lens spherical prescription between - 0.25 to - 8.00 (inclusive)
* Have no less than -0.75D of astigmatism in both eyes.
* Can achieve best corrected spectacle distance visual acuity of 20/25 (0.10 logMAR) or better in each eye.
* Can achieve a distance visual acuity of 20/30 (0.18 logMAR) or better in each eye with the study contact lenses.
* Has clear corneas and no active ocular disease
* Has read, understood and signed the information consent letter.
* Patient contact lens refraction should fit within the available parameters of the study lenses.
* Is willing to comply with the wear schedule (at least 5 days per week, \> 8 hours/day assuming there are no contraindications for doing so).
* Is willing to comply with the visit schedule

Exclusion Criteria:

* Has a CL prescription outside the range of the available parameters of the study lenses.
* Has a spectacle cylinder of ≥ 1.00D in either eye.
* Has a history of not achieving comfortable CL wear (5 days per week; \> 8 hours/day)
* Has contact lens best corrected distance vision worse than 20/25 (0.10 logMAR) in either eye.
* Presence of clinically significant (grade 2-4) anterior segment abnormalities
* Presence of ocular or systemic disease or need of medications which might interfere with contact lens wear.
* Slit lamp findings that would contraindicate contact lens wear such as:

  * Pathological dry eye or associated findings
  * Pterygium, pinguecula, or corneal scars within the visual axis
  * Neovascularization \> 0.75 mm in from of the limbus
  * Giant papillary conjunctivitis (GCP) worse than grade 1
  * Anterior uveitis or iritis (past or present)
  * Seborrheic eczema, Seborrheic conjunctivitis
  * History of corneal ulcers or fungal infections
  * Poor personal hygiene
* Has a known history of corneal hypoesthesia (reduced corneal sensitivity)
* Has aphakia, keratoconus or a highly irregular cornea.
* Has Presbyopia or has dependence on spectacles for near work over the contact lenses.
* Has undergone corneal refractive surgery.
* Is participating in any other type of eye related clinical or research study.
A Study to Assess the Change in Disease State in Adult Participants Being Treated With Oral Upadacitinib Tablets in Participants With Oligo- or Poly-artIcular Psoriatic Arthritis

Psoriatic arthritis (PsA) is a type of arthritis (swelling and stiffness in the joints) that is frequently seen in trial participants who also have the skin condition psoriasis. It is caused by the body's immune system mistakenly attacking healthy joint tissue causing inflammation, joint damage, disability, and a reduced life expectancy. The main objective of this study is to characterize attainment of minimal disease activity (MDA) at week 24 under continuous treatment with upadacitinib in participants with oligo- or polyarticular PsA as part of real-world practice.

Upadacitinib is a drug approved for the treatment of Psoriatic arthritis (PsA) in Germany and Canada. Approximately 380 adult participants with PsA at multiple sites in Germany and Canada.

Participants will receive oral Upadacitinib tablets per current local label, according to local standard of care and international guidelines.

There may be a higher burden for participants in this study compared to standard of care. Participants will attend regular visits per routine clinical practice. The effect of the treatment will be checked by medical assessments, checking for side effects, and by questionnaire.


Eligibility Criteria:
Inclusion Criteria:

* Diagnosis of active Psoriatic Arthritis (PsA) upon judgment of the treating physician.
* Swollen joint count (SJC) \>= 1 out of 66 joints.
* Decision on the treatment with Upadacitinib was made prior to any decision to approach the participant to participate in this study.

Exclusion Criteria:

* Cannot be treated with Upadacitinib according to the local Upadacitinib Summary of Product Characteristics (SmPC).
* Prior treatment with Upadacitinib.
* Currently participating in interventional research or within the last 30 days.
Musculoskeletal Outcomes After Bone Marrow Transplant

The purpose of the study is to evaluate bone mineral density and muscle strength in survivors of bone marrow transplant. Association with age, type of transplant, steroids, years since transplant, body composition, endocrinopathies, radiation, quality of life and physical activity will be explored.

Bone marrow transplant survivors are at risk of diminished bone mineral density. Mechanisms and risks are not well understood. This study will help identify risks factors for developing this complication.

Eligibility Criteria:
Inclusion Criteria:

* Ages 8-30 years
* One year from transplant

Exclusion Criteria:

* No current steroid use
* Medical conditions that would prohibit testing
* Neuropsychological conditions that prohibit completing questionnaires
PEARL Intervention to Reduce Depression Among Adults With Epilepsy

The purpose of this study is to test the effectiveness of a home-based depression treatment intervention called "Program to Encourage Active, Rewarding Lives (PEARL)". We hypothesize that over a 12-month period, compared to usual care, those receiving the PEARL intervention will show more improvement with their depression, have higher quality of life and function, and use fewer medical services.

Compared to non-depressed individuals with epilepsy, those with depression have significantly higher rates of suicide, lower social and occupational functioning, decreased quality of life independent of seizure frequency, and higher non-psychiatric health care utilization. Adults with epilepsy are more likely to be homebound as a result of reduced function and restrictions in driving, opportunities to obtain enhanced quality of care for depression may be limited. This study tests the effectiveness of a home-based multi-modal depression treatment intervention called Program to Encourage Active, Rewarding Lives (PEARL). PEARL consists of problem solving treatment, social and physical activation, pleasant events scheduling, support and education regarding antidepressant medication use as well as psychiatric consultation and recommendations regarding initiation or adjustment of antidepressant medications.

In a sample of adults with epilepsy who have minor depression, major depression and/or dysthymia, we hypothesize that over a 12-month period, compared to usual care, those randomized to the PEARL intervention will: achieve higher levels of depression response and remission, achieve higher quality of life and function, and utilize less non-psychiatric health care.

By providing a multi-modal, home-based stepped collaborative care intervention for adults with depression and epilepsy, this program will offer practical alternatives to usual care and will provide a program for improving depression outcomes, quality of life and potentially, epilepsy outcomes.

Eligibility Criteria:
Inclusion Criteria:

* Home address within 30 miles of Seattle
* Diagnosis of epilepsy (ICD-9 code 345.XX)
* Appointment in the UW REC or Neurology clinic in the past 2 years and currently enrolled in this clinic.
* Current age older than 18 years
* Diagnosis of major depression, minor depression or dysthymia
* Ability to speak/read English

Exclusion Criteria:

* Alcohol and/or substance abuse/dependence based on a score greater than 1 on 4-item validated CAGE-AID
* Cognitive impairment based on a score less than 3 on a 6-item validated cognitive screen
* Diagnosis of bipolar disorder, schizophrenia/schizoaffective disorder or other psychotic disorder
* Women who are pregnant or nursing
* Terminal medical illness
* Those currently seeing or planning to see a psychiatrist
* Those with suicidal ideation nearly every day