Neonatal lupus erythematosus: 24 years of experience from a tertiary centre at Chandigarh, North India.

Objective: To study the clinical features and laboratory parameters of neonatal lupus erythematosus (NLE) from India.

Patients And Methods: We analyzed case records of children diagnosed with NLE in the Pediatric Rheumatology Clinic at tertiary care centre from North India during the period January 1999 - December 2023.

Results: Twenty-four babies are diagnosed with NLE during the study period.

Single Stage Management of a Severe Form of Grade 3 Hypertelorism With Sincipital and Basal Encephaloceles-Lessons Learnt!

The article elucidates the management of a case of severe form of grade III hypertelorism with an intercanthal distance of 61 mm in a 4-year-old child. The management was especially challenging because of the patient's young age, degree of hypertelorism, wide cleft and simultaneous presence of 2 big (sincipital & basal) encephaloceles and a lipoma in the midline. This paper attempts to describe the attempted surgery, postoperative course and the learnings derived from its management to probably create a road-map for surgeons faced with such a challenge in future.

Profile of patients with Juvenile Dermatomyositis and Anti-MDA5 autoantibodies.

Background: Anti-MDA5 autoantibody-positive dermatomyositis (MDA5-DM) is associated with clinically amyopathic forms and rapidly progressive interstitial lung disease (ILD); however, data in children are limited. In this study, we described our cohort of anti-MDA5-positive juvenile DM (MDA5-JDM) from a tertiary care center in North India.

Methods: We performed a retrospective analysis of children with MDA5-JDM who were diagnosed and followed up at our center and compared them with our anti-MDA5-negative cohort.

Diagnosis and management of pediatric acute liver failure: consensus recommendations of the Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition (ISPGHAN).

Timely diagnosis and management of pediatric acute liver failure (PALF) is of paramount importance to improve survival. The Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition invited national and international experts to identify and review important management and research questions. These covered the definition, age appropriate stepwise workup for the etiology, non-invasive diagnosis and management of cerebral edema, prognostic scores, criteria for listing for liver transplantation (LT) and bridging therapies in PALF.

Epstein-Barr virus-driven lymphoproliferation in inborn errors of immunity: a diagnostic and therapeutic challenge.

Introduction: Inborn errors of immunity (IEI) are a group of genetically heterogeneous disorders with a wide-ranging clinical phenotype, varying from increased predisposition to infections to dysregulation of the immune system, including autoimmune phenomena, autoinflammatory disorders, lymphoproliferation, and malignancy. Lymphoproliferative disorder (LPD) in IEI refers to the nodal or extra-nodal and persistent or recurrent clonal or non-clonal proliferation of lymphoid cells in the clinical context of an inherited immunodeficiency or immune dysregulation. The Epstein-Barr virus (EBV) plays a significant role in the etiopathogenesis of LPD in IEIs.

Changes in Urine Drug Screen Sensitivity in Adolescent Opioid Presentations to the Emergency Department.

Introduction: Adolescent overdoses have been rising over the past decade. Emergency department (ED) visits for both acute overdoses and for adolescents in opioid withdrawal have risen post-COVID. Urine drug screens have poor utility in the ED but are routinely obtained for medical clearance and in the management of patients with substance use disorder.

Community interventions for pandemic preparedness: A scoping review of pandemic preparedness lessons from HIV, COVID-19, and other public health emergencies of international concern.

Community action is broadly recognised as central to comprehensive and effective system responses to pandemics. However, there is uncertainty about how and where communities can be best supported to bolster long-term resilience and preparedness. We applied a typology of community interventions (Community Informing, Consulting, Involving, Collaborating or Empowering-or CICICE) to cover the diverse range of interventions identified across the literature and used this to structure a scoping review addressing three linked topics: (i) how CICICE interventions have been understood and applied in the literature on epidemic and pandemic preparedness; (ii) the spectrum of interventions that have been implemented to strengthen CICICE and (iii) what evidence is available on their effectiveness in influencing preparedness for current and future emergencies.

Analysis of rising cases of adolescent opioid use presentations to the emergency department and their management.

Objective: We sought to answer the question of how adolescents (ages 12-17 years old) with opioid-related presentations are currently managed in the ED. The two main outcomes were the proportion of visits where naloxone and buprenorphine were both used and prescribed, and the rate of revisits to the emergency department in the six months following ED presentation.

Methods: This was a multi-center retrospective cross-sectional study.

Transmission patterns of C1-INH deficiency hereditary angioedema favors a wild-type male offspring: Our experience at Chandigarh, India.

Background: Deficiency of C1-inhibitor (C1-INH) protein, caused by pathogenic variants in the Serpin family G member 1 (SERPING1) gene, is the commonest pathophysiological abnormality (in ∼95 % cases) in patients with hereditary angioedema (HAE). C1-INH protein provides negative control over kallikrein-kinin system (KKS). Although the inheritance of the HAE-C1-INH is autosomal dominant, female predominance has often been observed in patients with HAE.

Immune and metabolic perturbations in COVID-19-associated pulmonary mucormycosis: A transcriptome analysis of innate immune cells.

Background And Objectives: The mechanisms underlying COVID-19-associated pulmonary mucormycosis (CAPM) remain unclear. We use a transcriptomic analysis of the innate immune cells to investigate the host immune and metabolic response pathways in patients with CAPM.

Patients And Methods: We enrolled subjects with CAPM (n = 5), pulmonary mucormycosis (PM) without COVID-19 (n = 5), COVID-19 (without mucormycosis, n = 5), healthy controls (n = 5) without comorbid illness and negative for SARS-CoV-2.

Delay in diagnosis is the most important proximate reason for mortality in hereditary angio-oedema: our experience at Chandigarh, India.

Background: Hereditary angio-oedema (HAE) is a rare autosomal dominant disorder characterized clinically by recurrent episodes of nonpruritic subcutaneous and/or submucosal oedema. Laryngeal oedema is the commonest cause of mortality in patients with HAE. Prior to the availability of first-line treatment options for the management of HAE, mortality was as high as 30%.

Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.

Background: Dedicator of cytokinesis protein 8 (DOCK8) deficiency is an autosomal recessive form of combined immunodeficiency. This rare disorder is characterized by an increased predisposition to allergy, autoimmunity and malignancies.

Objectives: To analyse clinical, immunological and molecular profiles of patients with DOCK8 deficiency.

Tuberculosis and Bacillus Calmette-Guérin Disease in Patients with Chronic Granulomatous Disease: an Experience from a Tertiary Care Center in North India.

Chronic granulomatous disease (CGD) is a phagocytic defect characterized by recurrent bacterial and fungal infections. We report clinical profile of patients with CGD and mycobacterial infections in a cohort from North India. A review of clinical and laboratory records was carried out for patients with CGD registered at our center between 1990 and 2021.

Kawasaki Disease and Inborn Errors of Immunity: Exploring the Link and Implications.

The exact etiopathogenesis of Kawasaki disease (KD), the most common childhood vasculitis, remains unknown; however, an aberrant immune response, possibly triggered by an infectious or environmental agent in genetically predisposed children, is believed to be the underlying pathogenetic mechanism. Patients with inborn errors of immunity (IEI) are predisposed to infections that trigger immune dysregulation due to an imbalance in various arms of the immune system. KD may develop as a complication in both primary and secondary immunodeficiencies.

Safety and Outcomes of Midline and Peripherally Inserted Central Catheters in a Pediatric Intensive Care Unit.

Objectives: We describe our experience with use of midline catheters in PICU and compare the performance of midline catheters to peripherally inserted central catheters (PICC).

Methods: A review of hospital records was done to including all pediatric patients admitted in the pediatric intensive care unit of a tertiary care centre who underwent placement of midline catheters or PICC, over a period of 18 months (July, 2019 to January, 2021). Patient details, indication, type of catheter and number of attempts at insertion, type and number of infusions administered, dwell time and complications were retrieved from the records.