Full Dose Steroid Responsiveness Within 8 Weeks in Initial Treatment of Childhood Nephrotic Syndrome

Objective: To determine the steroid responsiveness within 8 weeks of the initial treatment of childhood nephrotic syndrome. Patients and Methods: This prospective study was conducted in Children Hospital, Pakistan Institute of Medical Sciences, Islamabad from January 2012 to June 2012. A total of 139 children aged 1 to 10 years of both genders diagnosed as nephrotic syndrome were included in the study. Those children who were already taking any form of therapy for Nephrotic syndrome were excluded from the study. These children were given prednisolone 60 mg/m2 of body surface area, divided into 3 doses for a period of 8 weeks and then switched over to 40 mg/m2 as a single morning dose on alternate days, in those children who showed a response. The primary outcome of the study was to see the response of steroid therapy at different occasions for up to 8 weeks. SPSS version 11.0 was used for data analysis. Mean and standard deviation were calculated for numerical variables and frequency and percentages were calculated for categorical variables. Results: In this study 16.5% of cases responded to steroids within 2 weeks, major bulk of patients (43.5%) showed response between 3-4 weeks, (20.1%) and (2.1%) patients responded between 5-6 weeks and 7-8 weeks respectively. Steroid resistant nephrotic syndrome was seen in 16% of the study cases. Conclusion: Steroids are first line treatment for the idiopathic nephrotic syndrome. The majority of the patients show a response within 8 weeks of their first presentation. Maximum number responds between 3-4 weeks

Use of ACTH and prednisolone in infantile spasms: Experience from a developing country

SummaryBackground: Adrenocorticotrophic hormone (ACTH) and prednisone are both used to treat infantile spasms (IS) in West syndrome. In many countries, ACTH is expensive and difficult to obtain whereas, prednisone or prednisolone are cheap, given orally and easily available.Aims: The purpose of this retrospective data analysis was to compare the efficacy and cost of ACTH and prednisolone in the treatment of IS from the perspective of a developing country.Methods: Patients admitted with West syndrome in Children's Hospital, Islamabad, between January 1995 and December 2001 were included in the analysis. The diagnosis was made after eliciting a history of characteristic seizures and detecting hypsarrhythmia on the EEG. Parents were offered the use of either ACTH administered by intramuscular injection or prednisolone given orally. ACTH was expensive and difficult to obtain whereas prednisolone was cheap and easily available.Results: One hundred and five children were included in the study. Sixty-three were boys and their age ranged from 2 months to 3 years with a mean of 11 months. Thirty-three children received ACTH injections; 27 showed improvement and 11 remained spasms free after discontinuation of injections. Seventy-two patients were given oral prednisolone, 51 responded and 17 remained spasms free after oral steroids were stopped. Overall outcome was similar in both groups. The cost of ACTH injection was more than 100 times the cost of oral prednisolone.Conclusion: No significant difference was seen in the final outcome in both treatment groups. Since prednisolone is inexpensive, easily available and given orally, it is the preferred mode of therapy

Adversities faced by Y or Z category health science journals with HEC, Pakistan

Objective: To know the rate and predictors for derecognition/demotion in HEC-indexed Y, and Z categories health science journals (HSJs) Methods: A list of HEC-indexed Y and Z categories HSJs was downloaded from the official website of HEC, Pakistan on 29 July 2019. General information like the type of publisher, specialty, sponsoring body, origin city, and sector (Armed Forces/Civilian) of the derecognized or demoted journals were noted. Fundamental issues like HEC's procedures were resolved using literature review, contacts to the affected journals, and peer-to-peer discussions.   Results: Of 50 journals, 25 (50%) were found against each of the Y and Z categories.  Fourteen (56% of the total) Y category journals faced adversity in the form of derecognition (n = 5) or demotion (n = 9). Whereas, the rate increased remarkably to 64% (n = 16) in the Z category. Similarly, the high rate was noticed in specialty-specific journals (67.9%, n =19). A journal under private sponsorship had twofold more chance of the adversity (95%CI:1.003-2.918, p = .05) than public-sponsored journals (75 vs. 50%, respectively). Most of the affected Z category journals (n = 13, 81.3%) had their first registration with HEC before 2015. Conclusion: The policy of HEC for derecognition/demotion of HSJs needs extensive review to promote medical publications

FAMILIAL CAMPTODACTYLY COXA VARA PERICARDITIS SYNDROME MASQUARADING AS JUVUNILE IDIOPATHIC ARTHRITIS

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease characterized by congenital or early-onset camptodactyly, childhood-onset non-inflammatory arthropathy associated with synovial hyperplasia, constrictive pericarditis and coxa vara. This rare disease is caused by mutations in PRG4 Gene which encodes for lubricin, a protein present in synovial fluid responsible for lubrication. The case we are reporting is of 9 and half years old boy who presented to us in pediatric Out Patient Department with early onset camptodactyly and non-inflammatory arthropathy. Synovial biopsy shows synovial hyperplasia with numerous CD68 positive multinucleated giant cells. He was discharged and physiotherapy was advised with regular follow ups

A case of multisystem inflammatory syndrome in children presenting as systemic onset juvenile idiopathic arthritis

Multisystem inflammatory syndrome in children (MIS-C) is a rare and serious COVID 19 manifestation characterized by generalized inflammatory response including inflammation of heart, blood vessels, lungs, kidneys, brain, skin, eyes and gastrointestinal system. Children usually present with fever lasting for 24 hours or more along with other symptoms like abdominal pain, vomiting, diarrhea, skin rash, red eyes and swelling of the lips, tongue, hands and feet. The children with MIS-C usually have negative results for a current infection with the COVID-19 but positive antibody results indicating these children were infected with the COVID-19 virus in the past. We present 12 months old girl with multisystem inflammatory syndrome presenting as systemic onset juvenile idiopathic arthritis (SOJIA) and positive COVID-19 PCR, she was treated successfully with dexamethasone and naproxen. Continuou

Exome Sequencing Revealed a Novel Splice Site Variant in the CRB2 Gene Underlying Nephrotic Syndrome

Background and Objectives: Nephrotic syndrome (NS) is a kidney disease where the patient has a classic triad of signs and symptoms including hypercholesterolemia, hypoalbuminemia, proteinuria (>3.5 g/24 h), and peripheral edema. In case of NS, the damaged nephrons (structural and functional unit of the kidney) filter unwanted blood contents to make urine. Thus, the urine contains unwanted proteins (proteinuria) and blood cells (hematuria), while the bloodstream lacks enough protein albumin (hypoalbuminemia). Nephrotic syndrome is divided into two types, primary NS, and secondary NS. Primary NS, also known as primary glomerulonephrosis, is the result of a glomerular disease that is limited to the kidney, while secondary NS is a condition that affects the kidney and other parts of the body. The main causes of primary NS are minimal change disease, membranous glomerulonephritis, and focal segmental glomerulosclerosis. In the present study we recruited a family segregating primary NS with the aim to identify the underlying genetic etiology. Such type of study is important in children because it allows counseling of other family members who may be at risk of developing NS, predicts risk of recurrent disease phenotypes after kidney transplant, and predicts response to immunosuppressive therapy. Materials and Methods: All affected individuals were clinically evaluated. Clinical examination, results of laboratory tests, and biopsy investigations led us to the diagnosis. The next-generation sequencing technique (whole-exome sequencing) followed by Sanger sequencing identified a novel homozygous splice site variant (NM_173689.7: c.941-3C>T) in the CRB2 gene. The variant was present in a homozygous state in the affected individuals, while in a heterozygous state in phenotypically normal parents. Results: The study expanded the spectrum of the mutations in the gene CRB2 responsible for causing NS. Conclusions: In addition, the study will also help in genetic counseling, carrier testing, and prenatal and/or postnatal early diagnosis of the disease in the affected family