The patients who have these mild symptoms are low-grade fever (not more than 38 degrees celsius), dry cough, fatigue, sore throat, headache, the new loss of taste, and smell. Patients with normal or mild pneumonia findings of radiological imaging and blood lymphocyte count ≥800 / µl and serum CRP≤40 mg /l, ferritin ≤500ng/ml, D-Dimer ≤1000 ng/ml will be included in group I.

The patients who have these moderate symptoms are fever of about 38,5-39 degrees celsius, chills, deep cough, fatigue and body aches, muscle pain, the general feeling of being unwell. Patients with bilateral diffuse pneumonia findings of radiological imaging or blood lymphocyte count <800 / µl or serum CRP> 40 mg / l or ferritin> 500ng / ml or D-Dimer> 1000 ng / ml will be included in group II.

The patients who have these severe symptoms are all the common symptoms mentioned above along with shortness of breath, chest discomfort, confusion/unresponsiveness, bluish face/lips, possible gastrointestinal issues, like diarrhea or nausea. Patients with ICU (intensive care unit) admission criteria, such as confusion or tachycardia (> 125 / min) or respiratory distress or tachypnea (> 22 / min) or hypotension <90/60 mmHg or SPO2 <93%will be included in group III. Also, patients with the central nervous system and heart involvement will be directly included in the severe case group

Genomic material will be stored to continue prognostic biomarker studies.

Prognosis

Taking blood samples for biochemical and epigenetic analysis

Taking biological samples

Bakirkoy Dr. Sadi Konuk Research and Training Hospital

Epigenetic Tools as Prognostic Predictors in Covid19

The Effect of miRNA and Epigenetic Modifications on Prognosis in Covid-19 Infection

Analysis of pathway-related micro RNAs in patients with mild, moderate and severe Covid 19 clinics

Since studies on COVID 19 in our country during this pandemic are subject to certain permissions, the decision will be made when the permit processes are completed.

Gokhan Tolga Adas

Faculty Member

Istanbul University

Pelvic Floor Dyssynergia

Vaginal suppository placed once daily, patients will record pelvic pain daily on a VAS scale, sexual satisfaction and quality of life on a standardized questionnaire weekly

Baclofen/diazepam

Vaginal suppository placed once daily, patient will record pelvic pain daily on a VAS scale, sexual satisfaction and quality of life on a standardized questionnaire weeky.

Vaginal placebo

Baclofen/Diazepam Supps for Treatment of Pelvic Floor Myalgia

A Randomized Double Blind Placebo Controlled Cross-over Trial of Baclofen and Diazepam Suppositories for the Management of Pelvic Floor Myalgia

The scale ranges from 0 (no pain) to 10 (worst pain ever experienced)

Self report measure of female sexual dysfunction

Ranks patients overall feeling about health from 1 (very much better) to 7 (very much worse)

Standardized self assessment tool to measure overall health status

only pooled data will be shared outside of the research team

John Thiel

Clinical Professor

Dr. John A. Thiel Medical Professional Corporation

Patients with Hypophosphatasia disease or high-grade suspicion for Hypophosphatasia disease

For the development of the new biomarkers using the technique of Mass-spectrometry 7, 5 ml EDTA blood and a dry blood spot filter card are taken. To proof the correct di- agnosis of Hypophosphatasia in those patients where up to the enrollment in the study no genetic testing has been done, sequencing of Hypophosphatasia disease will be done. The analyses will be done at the: Centogene AG Am Strande 7 18055 Rostock Germany

Defective Mineralization

Centogene is one of the leading laboratories focusing on genetic testing for rare hereditary disorders. We now offer more than 2200 routine genetic and biochemical tests.

Centogene AG

NIRMAN Navi Mumbai Institute of Research In Mental And Neurological Handicap/Pediatric Geneticist

Lady Ridgeway Hospital for Children

Biomarker for Hypophosphatasia Disease (BioHypophos)

Biomarker for Hypophosphatasia Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Next-Generation Sequencing (NGS) of the ALPL gene will be performed. The mutation will be confirmed by Sanger sequencing.

The quantitative determination of small molecules (molecular weight 150-700 kD, given as ng/μl) within a dried blood spot sample will be validated via liquid chromatography multiple reaction-monitoring mass spectrometry (LC/MRM-MS) and compared with a merged control cohort. The statistically best validated molecule will be considered as a disease specific biomarker.

Centogene AG Rostock

The patients will be randomized into two groups:
Group I (Physiotherapy + Placebos) Group II (Physiotherapy + Valproate and Levocarnitine)

All patients will be randomized into two groups:
Group I (Physiotherapy + Placebos) Group II (Physiotherapy + Valproate and Levocarnitine)

Spinal Muscular Atrophy

All patients with diagnosis of SMA aged 2-15 years already registered in Myopathy Clinic of AIIMS will be recalled. Information will be sent to all Government Hospitals in Delhi that such a study is currently in progress and all the referrals will also be recruited. These patients and all those newly diagnosed at Myopathy Clinic, AIIMS will be randomized into two groups:
Group I (Physiotherapy + Placebos) Group II (Physiotherapy + Valproate and Levocarnitine)
The investigators will be blinded to the code of the medicine. It will be broken only at the end of the study or if there are any significant side effects. So one group will receive Valproate and levocarnitine and other group will receive Placebo and placebo.

Valproate, Levocarnitine

Placebo

All India Institute of Medical Sciences

Valproate and Levocarnitine in Children With Spinal Muscular Atrophy

Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years

Baseline assessment will include a detailed muscle charting on a 5 point scale as per the principles of manual muscle testing by a child physiotherapist.Patients will be clinically re-evaluated at 12, 24, 36 and 52 weeks by a detailed muscle charting on a 5 point scale as per the principles of manual muscle testing by a child physiotherapist.

Baseline functional status will be assessed using modified Hammersmith Functional Motor Scale (MHFMS) score. Change in functional measure using modified Hammersmith Functional Motor Scale (MHFMS) score will be measured at 12, 24, 36 and 52 weeks

Baseline Forced vital capacity (FVC) followed by change in Forced vital capacity (FVC) at 12, 24, 36 and 52 weeks will be measured.

All patients will be assessed for side effect profile of valproate (dyspepsia, weight gain, dysphoria, fatigue, dizziness, drowsiness, hair loss, headaches, nausea, sedation and tremors) at 12, 24, 36 and 52 weeks.

Hemogram and Liver Function tests of all recruited patients will be done at 24 and 52 weeks

muscle hypotonia/peavalu

Epigenetic Tools as Prognostic Predictors in Covid19

Baclofen/Diazepam Supps for Treatment of Pelvic Floor Myalgia

Biomarker for Hypophosphatasia Disease (BioHypophos)

Valproate and Levocarnitine in Children With Spinal Muscular Atrophy

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