cyrilzakka/clinical-trials huggingface dataset:
Immunological Profile and Clinical Characteristics of Children Diagnosed With Chronic Granulomatous Disease

Immunological profile and Clinical characteristics of children diagnosed with chronic granulomatous disease

CGD "chronic granulomatous disease is a rare genetically determined disorder aﬀecting the immune system characterized by recurrent and persistent bacterial and fungal infections due to the inability of the body's phagocytic cells (neutrophil and monocytes) to kill certain phagocytosed microorganisms.). CGD is caused by mutations in one of the ﬁve genes coding for NADPH(nicotinamide adenine dinucleotide phosphate ) oxidase subunits. Approximately 70% of cases are caused by mutations in the CYBB gene leading to X-linked CGD, which often causes a severe form of the disease. More than 700 pathogenic mutations in the CYBB gene encoding the gp91-phox protein have been documented. Other biallelic mutations in CYBA, NCF1, NCF2, and NCF4 cause autosomal recessive CGD. In addition, a novel ER-resident transmembrane protein called Eros (essential for reactive oxygen species) that is essential for the regulation of NADPH oxidase and controls the phagocyte respiratory burst was described. A homozygous CYBC1/EROS mutation was associated with the development of CGD Symptoms usually start in infancy or early childhood. Patients with the X-linked form of CGD (60-70% of patients) tend to present earlier and have more severe disease than patients with autosomal recessive forms. Most X-CGD develop failure to thrive,recurrentbacteriallymphadenitis and pneumonia due to catalase-positive organism especially staphylococcus, also skin, liver,and other internal organs abscesses, and osteomyelitis. In addition, CGD patients are more subjected to invasive lifethreatening fungal infections that aﬀect the lungs and bones. Another problem with patients diagnosed with CGD is the excessive inﬂammatory reactions leading to granulomatous lesions that typically aﬀects the bladder and gastrointestinal tract.

The primary diagnostic tests used in CGD functionally assess the NADPH complex in stimulated neutrophils.The dihydrorhodamine (DHR) assay is the gold standard for diagnosing CGD.

To the investigator's knowledge this will be the first study in Assiut University Children's Hospital to discuss the clinical characteristics and immunological profile of pediatric patients diagnosed as CGD in Assiut University Children's Hospital. In fact there is defect in data about CGD in upper Egypt .

Eligibility Criteria:
Inclusion Criteria:

Age at enrollment less than18 years. Both genders. Diagnosed as probable CGD.

Exclusion Criteria:

Children above 18 years old. Children not fullfilling the criteria of CGD
Validation of a Treadmill Walking Test to Discriminate Neurogenic Claudication From Vascular Claudication

The first aim of this study was to elaborate and validate a treadmill walking test that would help discriminate between neurogenic claudication from vascular claudication. The second objective of this study is to determine if the treadmill walking test can discriminate spinal stenosis from low back pain with radiating pain in lower limb.

To date, an important challenge that clinicians hare facing in the assessment and diagnosis of intermittent claudication is that pathologies associated with vascular or neurogenic claudication can coexist in the same patient. Differentiation between both origins can be difficult due to variable signs and symptoms which can be atypical.

The first aim of this study was to elaborate and validate a treadmill walking test that would help discriminate between neurogenic claudication from vascular claudication. The second objective of this study is to determine if the treadmill walking test can discriminate spinal stenosis from low back pain with radiating pain in lower limb. 60 participants (20 with spinal stenosis, 20 with peripheral artery disease and 20 with non-specific low back pain) will be recruited. Participants will be invited to walk on a treadmill at a speed of 1,2 mph for a maximum of five minutes for both tasks (straight walking posture and inclined walking posture). Each walking task will be followed by a rest time of five minutes in sitting position. It is hypothesized that walking time difference for the occurrence of pain and for pain relief will be sensitive and specific to pathologies and help to discriminate lumbar spinal stenosis.

Eligibility Criteria:
Inclusion Criteria:

Lumbar spinal stenosis (LSS) group :

* Central stenosis
* Pain in at least one leg
* Neurological signs in the lower limbs (numbness or tingling)
* Weaknesses in the lower limb
* Pain relieved by sitting or bending the trunk

Peripheral artery disease (PAD) group :

* Claudication while walking
* Ankle-brachial index \< 0.9
* Pain relieved by rest

Low back pain (LBP) :

* Pain radiating in the lower limb
* Weaknesses
* Pain relieved by sitting

Exclusion Criteria:

* Foraminal stenosis
* Spinal stenosis with predominant back pain
* Symptomatic disc herniation
* Previous lumbar surgery
* Previous vascular surgery
* Type 1 diabetes
* Knee or hip osteoarthritis
* Hip or knee arthroplasty
* Inability to provide free and informed consent
Effectiveness of Different Physiotherapy Practices in Temporomandibular Disorders

The aim of the study is to examine the effect of high voltage electrical stimulation on pain, temporomandibular joint mobility, cervical mobility, head position, tender points and joint sounds in individuals with temporomandibular disorders.

28 individuals who meet the TMER / Research Diagnostic Criteria classification will be randomly divided into 2 groups. Exercise with high voltage electrical stimulation (YVES) will be applied to the 1st group and only exercise will be applied to the 2nd group. The second group will be the control group of the study. Both groups will be informed about the disease before starting the study before the treatment and patient education will be given about the situations that need attention. Again, 2 groups will be given an exercise program from the day they start the treatment, 3 times a week for 4 weeks during the treatment. As sociodemographic information of the individuals, age, gender, height, weight, body mass index, marital and educational status, occupation, smoking and alcohol use, patient history, family history and complaint sides will be recorded. Before starting treatment, individuals will be evaluated for pain, temporomandibular joint mobility, cervical mobility, tender points, and joint sounds:

1. Pain with Visual Analogue Scale (VAS),
2. TMJ mobility with a ruler,
3. Cervical mobility with C-ROM (Cervical Range of Motion) inclinometer,
4. Head position with universal goniometer and ImageJ software,
5. Sensitive points with algometer,
6. Joint sounds will be evaluated as present / absent as a result of the evaluation of movements in all directions (maximum mouth opening, right / left lateral excursions, protrusion and retrusion).

After 4 weeks of treatment, the measurements will be repeated.

Eligibility Criteria:
Inclusion Criteria:

* Individuals who have been diagnosed with TMER,
* Comply with the TMD / RDC classification,
* Have Class I-II-III occlusion,
* Volunteer to participate in the study, and fill out the informed consent form will be included.

Exclusion Criteria:

* Acute trauma,
* Surgery history,
* Neurological or psychiatric conditions,
* Trigeminal or postherpatic neuralgia,
* Dental or orofacial infection,
* Intraoral infection or tumor,
* Oligodontics and anadontics,
* High voltage electrical stimulation contraindications,
* Any disease diagnosed in the shoulder and neck areas,
* Receiving another treatment and,
* Individuals under the age of 18 will be excluded in the study.
Preoperative Weight Loss for Open Abdominal Wall Reconstruction

The goal of this randomized controlled trial is to compare preoperative intensive weight management to upfront surgery in obese patients undergoing complex abdominal wall reconstruction. The main question is will abdominal wall specific quality of life (using the HerQLes survey) for the group undergoing upfront surgery be non-inferior compared to the group in the weight management program.

This is a prospective, single-center, registry-based, parallel, randomized controlled trial with 1:1 allocation. The study will consist of 2 arms: an intensive 6-month medical weight loss program prior to open retromuscular ventral hernia repair compared to upfront surgery without required weight loss. The medical obesity intervention will be conducted by physicians, nurse practitioners, and dieticians specializing in weight loss medicine. The study operations will be performed at Cleveland Clinic by six hernia surgeons with advanced abdominal wall reconstruction training.

Eligibility Criteria:
Inclusion criteria

* Adults having open retromuscular ventral hernia repair with an anticipated posterior component separation with transversus abdominis release and synthetic mesh
* BMI 40-55 kg/m2 and who are not planning to pursue weight loss surgery for any of the following reasons: they are not a candidate for weight loss surgery, cannot pursue weight loss surgery for insurance reasons, or are not interested in pursuing weight loss surgery.

Exclusion criteria

* Lack of English language fluency
* Urgent need for repair as determined by surgeon judgement
* Pregnant patients
* Permanent stoma in place
* Isolated flank hernia
* Anticipated need for staged operation; for example, patients who will undergo a mesh excision separate from definitive reconstruction.
* BMI \<40 or \>55 kg/m2
* Inability to participate in the Obesity Management Program due to lack of insurance coverage or history of mental illness (including eating disorders, schizophrenia, etc.).
* Obstructive symptoms
Protein and microRNA Markers for Early Detection of Alzheimer's Disease

Blood will be harvested from three groups of people, normal control, patients with mild cognitive impairment (MCI) and patients with Alzheimer's disease (AD), 20 people per group. The blood samples will be used to determine the difference in the expression of microRNAs and proteins. Blood samples will be harvested again at 6-month interval from patients. The combination of the microRNAs and proteins that have different expression patterns between normal control and patients with MCI will be constructed in a kit to detect the difference. This kit will be used in another set of the three groups of people to determine its sensitivity and specificity in detecting patients with MCI.

As discussed above, patients' blood samples will be tested by chip to test microRNA expression and liquid chromatography-mass spectrometry to determine protein expression. The differences in microRNA and protein expression among the three groups, especially between the control and MCI, will be analyzed. This information will be used to construct a kit that can contain probes to detect a few microRNAs or proteins. This kit will be used in another set of patients to check its sensitivity and specificity. The first set of patients will also be followed up every 6 months for up to 1.5 years. Blood samples will be harvested during the follow-ups. The changes in microRNAs and proteins will be correlated with the changes of cognition. This information will be used for constructing the kit as well.

Eligibility Criteria:
Inclusion Criteria:

* Age-matched with patients with MCI group

Exclusion Criteria:

* With cognitive dysfunction
* With major cardiovascular diseases, especially stroke and brain transient ischemic attack
* On steroid treatment
* with major organ diseases
Transcatheter Interventions for Tricuspid Insufficiency in Italy

This is an observational, multi-center, retrospective and prospective study collecting data about patients undergoing transcatheter tricuspid valve interventions in a real world clinical environment. The aim is to report clinical characteristics, procedural results and short- and long-term outcomes of patients undergoing transcatheter tricuspid valve interventions in Italian centres.


Eligibility Criteria:
Inclusion Criteria:

1. Patients undergoing transcatheter treatment of tricuspid regurgitation (native valve -with or without previous surgical valve repair - or degenerated bioprosthesis)
2. Patients who are willing and capable of providing informed consent, and participating in all follow-ups associated with this clinical investigation.

Exclusion Criteria:

1. Valve anatomy unsuitable for transcatheter tricuspid valve interventions.
2. Subjects who are unable or not willing to complete follow-up visits and examination for the duration of the study.
Contribution of Virtual Reality in the Management of Patients Undergoing Scheduled Cesarean Section - VR-SCS

Cesarean deliveries account for 20.7% of all deliveries in France, according to the latest perinatal survey. At Nice University Hospital, the C-section rate over the last 5 years is around 19%.

Caesarean section patients are at greater risk of developing symptoms of anxiety, stress and depression. The post-operative period is also more painful, and there is a positive correlation between immediate post-operative pain and the risk of developing chronic pelvic pain. Numerous attempts to reduce these symptoms have been evaluated, including music therapy, relaxation techniques, acupressure and the use of preoperative melatonin.

Virtual reality has demonstrated its effectiveness in reducing pain and anxiety in other disciplines, notably pediatric surgery and neurosurgery.

In particular, several trials have demonstrated a reduction in anxiety in the paediatric population and, for pelvic procedures under local anaesthetic, during prostate biopsies or hysteroscopy in consultation, with a reduction in anxiety and pain respectively.

It has been used to provide information by showing a film about the caesarean section procedure, and has been shown to be effective in terms of patient satisfaction, but without being able to demonstrate a significant reduction in anxiety (p=0.06).

The use of virtual reality during the entire peri- and intra-operative management process (maternity stay, patient transfer to the operating room, locoregional anesthesia procedure and during the operation) has not been studied in the context of cesarean section.


Eligibility Criteria:
Inclusion Criteria:

* Major woman ;
* Female volunteer ;
* Social security affiliation;
* Admitted for scheduled caesarean section with history of caesarean section and patient's refusal to attempt vaginal delivery;
* Informed patients who have signed the informed consent form.

Exclusion Criteria:

* Speaks a language other than French;
* Unbalanced epilepsy;
* People unable to understand (language barrier, cognitive difficulties, cerebral palsy, etc.) and/or apply dietary advice (people institutionalized in nursing homes, retirement homes, prisons, etc.);
* Women claiming to have had a very bad experience during their previous caesarean section.
ASC618 Gene Therapy in Hemophilia A Patients

Currently, hemophilia A patients are managed with prophylactic or on-demand replacement therapy with recombinant FVIII or alternative therapeutics. The major challenges of current treatment regimens, such as the short half-life of hemophilia therapeutics with the need for frequent IV injections, encourage the current efforts for gene transfer therapy.

This study will evaluate the safety and preliminary efficacy of ASC618, an AAV vector encoding B-domain deleted codon-optimized human factor VIII under a synthetic liver-directed promoter


Eligibility Criteria:
Inclusion Criteria:

* Male ≥18 years of age
* Severe or moderately severe hemophilia A (FVIII activity ≤ 2 IU/dL) as evidenced by
* medical history
* Received FVIII prophylactic or on-demand replacement therapy for ≥ 150 accumulated
* days (exposure days)
* ≥12 bleeding episodes if receiving on-demand therapy over the preceding 12 months
* BMI ≤ 30
* Agree to use double-barrier contraceptive until at least 3 consecutive semen samples are negative after ASC-618 infusion

Exclusion Criteria:

* Pre-existing immunity to AAV8 vector as defined by AAV8 total antibodies and neutralizing antibodies qualified tests.
* Current inhibitors, or history of high titer FVIII inhibitors
* Presence of \> Grade 2 liver fibrosis on elastography/Fibroscan or comparable imaging methodology
* History of chronic renal disease
* Active infection or any immunosuppressive disorder
* History of cardiac surgery and need anticoagulant therapy
* Any cardiovascular / genetic risk factors for thromboembolic disorders
* Evidence of active Hepatitis B, Hepatitis C, Human Immunodeficiency Virus (HIV)-1/2 or syphilis infection.
* Receipt of any vector or gene transfer agent
* Current antiviral therapy for hepatitis B or C
Diagnostic Value of Smartphone Video in Epileptic Seizures

1. Accuracy of seizure diagnosis based on smartphone seizure semiology anaysis
2. Assess the factors that affect the diagnostic reliability of smartphone videos

E pilepsy has a substantial global burden of disease.1 Diagnosis is made clinically based on a historical recount of witnessed events and a laboratory assessment. Differential diagnosis for seizures is broad. Even seasoned clinicians can be misled when individuals lack medical knowledge or pertinent terminology to accurately represent witnessed seizure behavior.2Video electroencephalogram (EEG) monitoring (VEM) is recommended when there is diagnostic uncertainty in classifying seizure type or epilepsy syndrome.3 Video EEG monitoring provides objective evidence for definitive diagnosis4 ;Additionally, VEM may not be practical for some patients because of relative infrequency of events Geographic limitations, transportation constraints, and insurance coverage may also restrict access.2,4 While VEM is the criterion standard for seizure diagnosis, web-based smartphone use has become a popular means to augment clinical practice involving seizure reporting by people with epilepsy. However, smartphone videos are not recorded in a controlled environment in which the clinicians themselves are able to define when and how each spell is to be recorded,. As such, there are issues of focus, lighting, duration, and initiation that must be considered when interpreting homemade smartphone video recordings obtained by a lay population of caregivers to evaluate people with seizures on the other hand, it has been proven that discriminating seizure's semiology is a learned skill and requires specific neurologic training 11We hypothesize that outpatient smartphone videos predictive value in patients referred for evaluation of epilepsy is variable and depends on multiple factors such as seizure semiology, and interpreting physician . on the other hand, there is no consensus on quality standards and safety recommendation of smartphone videos.

Eligibility Criteria:
Inclusion Criteria:

1. Patients were included in the study at any age
2. provided voluntary consent, completed an HP,
3. submitted an outpatient smartphone video of their primary ictal event, underwent inpatient VEM,

Exclusion Criteria:

1. Patients were exclude, pregnant women
2. had an incomplete/absent HP, had no smartphone video,
3. did not undergo VEM, had a confirmed history of mixed epileptic and nonepileptic events (based on prior VEM), declined study participation, or did not provide informed consent
Comparing Pain and Swelling After Surgical Extraction of Mandibular Third Molar in Dexamethasone Injection and Without Corticosteroid Methods

In some cases, impacted wisdom teeth should be extracted. Surgical extraction of these impacted third molars may provide special complication as pain, swelling, and trismus. In previous studies, some techniques as sutureless flap closure, modified flap designing, antibiotic usage, and injection of corticosteroids were presented. These methods are reducing post operative complications to moderate level. In this study, pain, swelling, trismus, general patients' satisfaction, and associated quality of life after the surgical removal of third mandibular impacted molars will be compared while injection of dexamethasone (8mg) does not need excessive time, effort, and equipments and it will be injected in numbness area into medial pterygoid muscle and pterygomandibular space to current corticosteroid injecting non-corticosteroid methods. To achieve this aim, 75 non pregnant participants have single impacted mandibular third molar in healthy and without pericoronitis manner, after provision of written informed consent will be entered to the study. During the study, unwilling participants to continue the study and those with abnormality of wound healing process will be excluded. The included participants will be assigned into three 25-people groups. The surgeries were done by 3 same instructed experienced oral and maxillofacial residents. After the surgery pain, swelling, trismus, general patients' satisfaction, and associated quality of life were evaluated using interview of questionnaire in 48 hour, 96 hour, and one week period of time. The comparison was done between these three groups.


Eligibility Criteria:
Inclusion Criteria:

* Non pregnant participants have single impacted mandibular third molar in healthy and without pericoronitis manner
* They must have no contra-indication for injection of the corticosteroid and lidocaine with epinephrine
* Should not medicated by any possibly bias maker drug
* Type of the impaction, must not provide sever difficulty
* The participants should be mentally at healthy level and provide written informed consent to incorporate in the study

Exclusion Criteria:

-Unwilling participants to continue the study and those with abnormality of wound healing process