Transition of Care for Patients with Thalassemia.

Thalassemia is one of the most common hemoglobinopathies affecting a large number of people in India and other countries of South-East Asia. For patients with most severe form of the disease- Transfusion Dependent Thalassemia (TDT), stem cell transplantation or gene therapy are only curative treatment which are not available to most of the patients because of lack of experts, financial constraints and lack of suitable donors. In such situations, most cases are managed with regular blood transfusion and iron chelation therapy. With this treatment, over the years, survival of the patients has improved and 20-40% cases are entering into adulthood. In the absence of structured transition of care programs, currently most adult TDT patients are being managed by pediatricians. This article highlights the need for transition of care for TDT patients, barriers to transition and how to overcome the barriers and process of transition of care to adult care team. The importance of empowering the patients in self-management of the disease and educating the adult care team to achieve the desired outcome of transition program is highlighted.

Cell-Based Gene Therapy for b-Thalassemia.

The United States Food and Drug Administration (FDA) approved betibeglogene autotemcel (beti-cel), the first cell-based gene therapy for adult and pediatric patients with b-thalassemia in August, 2022. This update details this and other novel therapies that have emerged in the treatment of b-thalassemia, apart from transfusion and iron chelation, with particular focus on newly approved gene therapy.

Pediatric Liver Abscess: Outcomes of Protocol-based Management and Predictors of Poor Outcome.

BACKGROUND: Liver abscess (LA) is an important cause of morbidity in children, especially in tropical countries. There is a paucity of data in pediatric LA with no standard guidelines regarding the best modality of treatment and drainage. With a large influx of patients at our center and protocol-based management; we aimed to study clinic-radiologic profile, risk factors, complications and outcomes of children with liver abscess and assessed possible predictors for poor outcomes. MATERIALS AND METHODS: This retrospective observational study was conducted from January 2019 to September 2019 at a tertiary care hospital in India. Records of all children (<12 years of age) with ultrasonographically diagnosed liver abscess were accessed for clinic-radiological and demographic profile, laboratory investigations, treatment, complications and outcomes. Patients were categorized into favorable or unfavorable groups based on predefined criteria and were compared for possible predictors of poor outcomes. Outcomes for the protocol-based management were analyzed. RESULTS: There were 120 cases of pediatric liver abscess with a median age of 5 years at presentation. The commonest clinical features were fever (100%) and pain in the abdomen (89.16%). The majority of liver abscesses were solitary (78.4%) and in the right lobe (73.3%). Malnutrition was present in 27.5%, overcrowding for 76.5% of patients and worm infestation in 2.5% of patients. Age-related leukocytosis ( P = 0.004), neutrophilia ( P = 0.013), elevated Aspartate transaminase ( P = 0.008), elevated alanine transaminase ( P = 0.007) and hypoalbuminemia ( P = 0.014) were significantly more in the unfavorable group. Overall, 29.2% of patients underwent conservative management with antibiotics alone, 25.0% underwent percutaneous needle aspiration (PNA), 49.1% underwent ultrasound-guided percutaneous drain (PCD) insertion and open surgical drainage (OSD) was needed in a single patient. The success rate was 100% for conservative management, 76.6% for PNA, 94.7% for PCD and 100% for OSD with an overall mortality of 2.5%. CONCLUSIONS: Age-related leukocytosis, neutrophilia, elevated aspartate transaminase or alanine transaminase and hypoalbuminemia at presentation are predictors of poor outcomes in pediatric liver abscess. Protocol-based management leads to the appropriate use of PNA and PCD while decreasing mortality and morbidity related to either.

Shared care for children with cancer in India through social and healthcare partnerships during the COVID-19 pandemic.

BACKGROUND: The COVID pandemic posed a challenge for the tertiary centers to continue treatment. Some tertiary centers were designated as COVID-only hospitals, making it difficult for existing childhood cancer patients to continue their treatment at those centres. The need for shared care in childhood cancer was perceived by Cankids and its partnering childhood cancer-treating centers in North and East India. AIM: We aim to show how Cankids upscaled its shared care model to ensure that COVID designated hospitals connected with other hospitals who have to continue to provide care to childhood cancer patients in the pandemic and thus ensured the continuation of treatment for these patients. METHODS AND RESULT: The need assessment of the beneficiaries was done in discussion with the hospital of origin and destination hospital. The need for shared care was also discussed with the families and consent was taken before shifting their children. Cankids with the help of advisors identified cases of high risk that need immediate attention, proactive regular monitoring, and help in care planning with the perspective and recommendation of the multiple providers. The shared care unit came forward with reasonable and discounted packages for treatment. There was a total of five hospitals requiring shared care, and 55 children were supported from April to November 2020. The median age was 8 years and their hospital of origin are in Bihar, Uttar Pradesh, West Bengal, and Delhi. The expenditure on the treatment of the 55 patients was INR 61 61 636 ($ 84 843), with a median of INR 41765 (IQR 19491-174 129) on each patient. Total 291 trips for the transport were arranged and all the patients combined stayed 174 days at Cankids accommodation facility. CONCLUSION: The shared care helped the patients access standard treatment and reduce the financial burden.

Pediatric Coronavirus Disease 2019: Clinical Features and Management.

There is a lack of clarity regarding management of COVID-19 infection in children. This review aims to summarize the key clinical presentations and management of Pediatric COVID-19. The Medline database was searched for seminal articles and guidelines on COVID-19 presentation and management in children less than 18 years of age. COVID-19 has a lower incidence (1-5% of reported cases worldwide), causes milder disease with lower need for intensive care admission and lower mortality rate (0-0.7%) in children compared with adults. Multisystem inflammatory syndrome is a rare but severe complication in children. Majority of patients require supportive care including adequate hydration, nutrition and antipyretics. Supplemental oxygen therapy should be given in moderate to severe cases with all precautions to prevent air-borne COVID-19 spread. Steroids may be helpful in severe cases. Anticoagulation is indicated in moderate to severe cases with risk factors. More data on the efficacy and safety of antivirals and immunomodulators in children is needed.

Immune Thrombocytopenia: American Society of Hematology Guidelines, 2019.

Immune Thrombocytopenia is the commonest cause of thrombocytopenia in young children. A thorough history, examination and peripheral smear evaluation is central to diagnosis. The recent American Society of Hematology guidelines 2019, has shed light on diagnosis and management based on latest available literature. We, herein, delineate the important aspects of these guidelines.

National Comprehensive Cancer Network Guidelines for Pediatric Acute Lymphoblastic Leukemia.

The National Comprehensive Cancer Network has recently published the first pediatric guidelines for the management of children, adolescent and young adults with acute lymphoblastic leukemia (ALL). The recommendations for diagnosis, work up, genetic evaluation, treatment and follow up of pediatric ALL have been provided. Genetic risk factors and newer therapeutic agents have been discussed. We highlight the major points in the guidelines.

Medical Education Amid the COVID-19 Pandemic.

The coronavirus pandemic has shaken the mankind to its core. Social distancing is the most important preventive strategy for the spread of this contagion, short of a vaccine. Implementation of the same has forced many countries in to a complete lock-down. Closure of schools and universities has made education uncertain at all levels. Medical education is no exception. In this pandemic, the need for uninterrupted generation of future doctors is felt more than ever in our living memory. Continuity of medical education is thus imperative. While "Live" patient contact is an irreplaceable tenet of clinical teaching, these extraordinary times demand exceptional measures. Pedagogical innovations involving technology and simulation based teaching (Online lectures, video case vignettes, virtual simulators, webcasting, online chat-rooms) need to be brought to the forefront. Since the medical educators have been pushed inevitably to rely on technology-based learning, they should not only embrace it but also develop and evaluate its sustainability and application in preclinical and clinical setting. Meanwhile, the students, whose medical education is stuck in this pandemic time, should realize that there is no better teacher than a first-hand experience, and they are eyewitnesses to the making of history.

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.

Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. The affected individuals who survived the first critical years of life, develop cold-induced sweating and scoliosis in early childhood. The disease is caused by variants in the CRLF1 or in the CLCF1 gene. Both proteins form a heterodimeric complex that acts on cells expressing the ciliary neurotrophic factor receptor (CNTFR). CS/CISS belongs to the family of "CNTFR-related disorders" showing a similar clinical phenotype. Recently, variants in other genes, including KLHL7, NALCN, MAGEL2 and SCN2A, previously linked to other diseases, have been associated with a CS/CISS-like phenotype. Therefore, retinitis pigmentosa and Bohring-Optiz syndrome-like (KLHL7), Congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome (NALCN), Chitayat-Hall/Schaaf-Yang syndrome (MAGEL2), and early infantile epileptic encephalopathy-11 syndrome (SCN2A) all share an overlapping phenotype with CS/CISS, especially in the neonatal period. This review aims to summarize the existing literature on CS/CISS, focusing on the current state of differential diagnosis, pathogenesis and treatment concepts in order to achieve an accurate and rapid diagnosis. This will improve patient management and enable specific treatments for the affected individuals.

Addition of Questions on Parental Factors to the WHO (Integrated Management of Childhood Illnesses) IMCI-HIV Algorithm Improves the Utility of the Algorithm for Diagnosis of HIV Infection in Children.

The WHO Integrated Management of Childhood Illnesses-HIV (IMCI-HIV) algorithm and its regional adaptation have shown variable performance in clinically identifying HIV-infected children with lack of validation in low prevalence areas. Addition of certain 'parental factors' (proxy indicators of parental HIV) may improve its utility. In this study, children aged 2 months to 5 years were enrolled into Group A (n = 1000, 'suspected symptomatic HIV infected' children as per the IMNCI-HIV algorithm) and group B (n = 50, children newly diagnosed with HIV infection). Parental factors were asked and HIV infection was tested for in Group A. For Group B, retrospective data were collected regarding IMNCI-HIV algorithm signs and parental factors. Utility of individual and various combinations of IMNCI-HIV signs and parental factors to predict HIV status was evaluated. Results showed that incorporating parental factors to IMNCI-HIV algorithm improved its sensitivity and positive predictive value in identifying HIV-infected children while maintaining the same sensitivity.