Objective: To assess the clinical and molecular profile of patients with Duchenne Muscular Dystrophy (DMD) presenting to a tertiary center in Eastern Region of Uttar Pradesh, India.
Methods: In this retrospective study, case records of all patients diagnosed as DMD were analyzed to ascertain the clinical phenotype and molecular profile. Multiplex polymerase chain reaction (mPCR) technique, Multiplex Ligation Dependent Probe Amplification (MLPA) and Next Generation Sequencing (NGS) were used for establishing the molecular diagnosis.
COVID-19, a highly infectious respiratory disease a used by SARS virus, has killed millions of people across many countries. To enhance quick and accurate diagnosis of COVID-19, chest X-ray (CXR) imaging methods were commonly utilized. Identifying the infection manually by radio imaging, on the other hand, was considered, extremely difficult due to the time commitment and significant risk of human error.
View Article and Find Full Text PDFDengue fever is an important cause of acute febrile illness in the postmonsoon season in India. This study was done to record the incidence of dengue in admitted patients with acute febrile illness in a hospital setting. The study also intends to record the clinical, biochemical and outcome profile of paediatric dengue cases admitted in tertiary centres in Eastern Uttar Pradesh, India.
View Article and Find Full Text PDFIntroduction: Idiopathic steroid resistant nephrotic syndrome (SRNS) has variable outcomes in children. The primary objective of the present study was to assess the cumulative remission rate and the secondary objectives were to assess factors affecting the remission status, kidney function survival, and adverse effects of medications.
Methods: One hundred fourteen patients with SRNS were included.
Scrub typhus is an important etiological agent in acute febrile illness in the post-monsoon season in tropical countries. It leads to dreaded complications if left untreated. Acute kidney injury is one such complication.
View Article and Find Full Text PDFObjective: To find out the serum fibroblast growth factor 23 (FGF-23) levels in different grades of CKD, and the prevalence of abnormal left ventricular mass index (LVMI), carotid intima-medial thickness (cIMT), and central pulse wave velocity (cPWV) and the risk factors including FGF-23 for these abnormalities.
Methods: Fifty-nine patients of CKD with G2 to G5, aged 2-18 y were included. The LVMI, cIMT, and cPWV were measured using standard techniques, and serum intact FGF-23 levels were estimated at enrollment.
This study evaluated the diagnostic role of cerebrospinal fluid leucine-rich alpha-2 glycoprotein (CSF LRG) concentration in children with acute bacterial meningitis, and its role in differentiation from aseptic meningitis. CSF LRG concentration was measured by ELISA Kit of 50 children with bacterial meningitis, 16 aseptic meningitis, and 20 children with normal CSF; control. CSF LRG was significantly elevated (p < 0.
View Article and Find Full Text PDFIntroduction: Treatment of nephrotic syndrome with corticosteroid can cause several side- effects including behavioral abnormalities. The objectives of the study were to observe the proportion of non-relapsers having persistence of behavioral abnormalities after completion of treatment of initial episode and compare the abnormalities with relapsers, and to determine risk factors for persistence.
Methods: Seventy-five children with a first episode of idiopathic nephrotic syndrome and 60 normal children were rated by parents for behavioral problems using the Child Behavior Checklist.
Metal-oxide nanoparticles (MO-NPs), such as the highly bioreactive copper-based nanoparticles (CuO-NPs), are widely used in manufacturing of hundreds of commercial products. Epidemiological studies correlated levels of nanoparticles in ambient air with a significant increase in lung disease. CuO-NPs, specifically, were among the most potent in a set of metal-oxides and carbons studied in parallel regarding DNA damage and cytotoxicity.
View Article and Find Full Text PDFThis retrospective study describes the clinical profile, risk of infection and outcome of coronavirus disease-19 in immuno-compromised children. It was found that children on immuno-suppressant medication has 2.89 times increased risk of infection (P=0.
View Article and Find Full Text PDFInfants with acute kidney injury (AKI) who are critically ill often will have multiorgan dysfunctions. Objective of the present study was to find out mortality, recovery of kidney function at discharge and at 3 months, and to determine risk factors for mortality. Fifty-two infants (24 newborns and 28 postneonatal) with AKI were included.
View Article and Find Full Text PDFJustification: Steroid sensitive nephrotic syndrome (SSNS) is one of the most common chronic kidney diseases in children. These guidelines update the existing Indian Society of Pediatric Nephrology recommendations on its management.
Objective: To frame revised guidelines on diagnosis, evaluation, management and supportive care of patients with the illness.
Steroid-resistant nephrotic syndrome (SRNS) patients with genetic mutations most commonly have histology of focal segmental glomerulosclerosis (FSGS) and do not respond to immunosuppressive drugs. We report the molecular screening results of 18 pediatric SRNS cases presented to our nephrology clinic. Three pathogenic variants have been detected, two previously reported and one novel variant.
View Article and Find Full Text PDFBackground: Albumin is the major protein excreted in urine in patients with nephrotic syndrome (NS). However, low-molecular-weight proteins including some binding proteins are also excreted. Thyroid hormone and its binding globulins are excreted in urine in excess in nephrotic syndrome.
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