Variants in TBCK cause Global Developmental Delay, Dysmorphism, Hypotonia
Maha Alotaibi and Shaza M Aloulou
Article Type: Case Series | First Published: April 25, 2022
A protein kinase domain, a Rhodanase-like domain, and the Tre-2/Bub2/Cdc16 (TBC) domain are all encoded by the TBCK gene. By modulating the mammalian target of rapamycin (mTOR) signaling pathway, the encoded protein is hypothesized to play a role in actin organization, cell growth, and cell proliferation. Has a role in the organization of the actin cytoskeleton. This protein may also play a role in the transcriptional control of mTOR complex components. And it’s found practically everywhere, i...
Paracetamol Poisoning: Need to Remember Nephrotoxicity
Inês Rosinha, Marta Machado, Carolina Cordinhã, Carmen Do Carmo and Clara Gomes
Article Type: Case Series | First Published: April 11, 2022
Paracetamol overdose is an important cause of drug toxicity and pediatric overdose emergencies remain a significant global issue. Paracetamol is a known toxin to several tissues, but extrahepatic manifestations are not so well established as hepatotoxicity. Acute kidney injury occurs in up to 2% of paracetamol overdoses, generally coexisting with hepatotoxicity. A 14-year-old female adolescent presented to the emergency department 24 hours after a purposeful overdose of 22.5 grams of paracetamol...
Pediatric Abusive Head Trauma: A Case Series in a Tertiary Hospital
Andreia Marinhas, Ana Isabel Martins, Anabela Fazendeiro, Patrícia Lourenço, Filomena Freitas, Marta Machado and Beatriz Maia Vale
Article Type: Case Series | First Published: March 30, 2022
Characterise cases of Abusive Head Trauma (AHT) over an 8-year period in a tertiary hospital in Portugal, including the main demographic and clinical characteristics, as well as long-term follow-up and sequelae. Retrospective review of all cases of AHT admitted between 1st of January 2013 and 31st of December 2020 in a Portuguese pediatric tertiary hospital. We characterize all cases descriptively, about demographic, clinical and social characteristics. Between 2013 and 2020, 7 cases of abusive ...
Transition from Pediatric to Adult Care of Pediatric Patients with Chronic Disease: Experiences and Perspectives of Pediatricians and Internists at a Private Tertiary Hospital in the Philippines
Maria Anna F Perez, MD, Rosa Maria Nancho, MD, FPPS, FPSAMS, FiFePAG and Rhea Salonga-Quimpo, MD, FPPS, FCNSP, FPNA
Article Type: Original Article | First Published: March 30, 2022
The improving survival rates and life expectancy of patients with pediatric-onset chronic diseases led to a rise in the number of individuals requiring transition to adult care. A successful Health Care Transition (HCT) is vital in ensuring therapy adherence, continuity of care, and positive health outcomes. Both pediatricians and internists are key stakeholders in the transition process and have equally valuable input in improving HCT policies and programs. Pediatricians and internists in activ...
Clinical Manifestations in the Pediatric Patient with Post- COVID-19 Syndrome: A New Challenge for the Preservation of Functional Capacity
Ana María Zuleta-Monsalve, Carol Juliana Parra-Navarro, Kelly Marcela Ceron- Benavides, Yenny Alexandra Moreno-Giraldo and Maria Paz Bolaño-Romero
Article Type: Editorial | First Published: March 16, 2022
The COVID-19 pandemic has raised numerous questions about the prognosis of those affected by this disease, especially in children. Based on cases described in the literature, Nakra, et al. investigated a severe condition about which little is currently known: Multisystemic inflammatory syndrome in children associated with COVID-19. The authors hypothesized pathogenic mechanisms, and reported which were the most frequent clinical manifestations, taking into account that this syndrome can present ...
A Text Message Intervention for Weight Management in Childhood Obesity at the Pediatric Office
Ala Elayyan, MD, MPH, FAAP, CNSC, Dipl. of ABOM
Article Type: Research Article | First Published: March 09, 2022
Childhood overweight and obesity is a major public health problem affecting one-third of children and adolescents in the United States, it has been linked to significant health risks and comorbid conditions in children and adults as it has direct associations with chronic health problems in children and adults not limited to diabetes, dyslipidemia, heart disease, non-alcoholic fatty liver disease, and many others. Childhood obesity is usually diagnosed and managed at the primary care office but ...
Effectiveness of Polyethylene Glycol 3350 versus Lactulose in Management of Functional Constipation in Children
Hanin Ahmed Mansour, MD, Ali Ibrahim and Ali Mohammad
Article Type: Research Article | First Published: March 09, 2022
Constipation is one of the common problems in childhood. Recently, Polyethylene Glycol (PEG 3350) has been suggested as a good alternative laxative to Lactulose as a treatment option in pediatric constipation. The current study aimed to compare the efficacy of two laxatives (PEG 3350 and Lactulose) in the management of functional constipation and evaluate the side effects. In an open-label clinical trial, 1-13 year-old children with functional constipation according to ROME IV criteria and the p...
Perinatal Risk Factors and Early Onset of Neonatal Sepsis
Fedaa Noah Noah, MD, Leen Jamel Doya, MD and Oday Jouni
Article Type: Observational Descriptive Study | First Published: February 21, 2022
Neonatal sepsis contributes significantly to neonatal morbidity and mortality and is an ongoing major global public health challenge particularly in developing countries. The study aims to determine the prevalence of early neonatal infections and risk factors associated with neonatal intensive care. In a cross-sectional study that included all newborns admitted to the neonatal intensive care of Tishreen University Hospital from October 2019 for one year and who fulfilled clinical and laboratory ...
Newborn Resuscitation Scale Up and Retention Program Associated with Improved Neonatal Outcomes in Western Nepal
Naresh Pratap KC, Ranjan Dhungana, Emily Gamboa, Siena F Davis, Michael K Visick and Robert B Clark, MD, MPH
Article Type: Original Article | First Published: February 07, 2022
The adoption of Helping Babies Breathe (HBB) tool has improved the outcomes of neonatal resuscitation following intrapartum events. Perinatal asphyxia however remains a leading cause of neonatal morbidity and mortality in Nepal. HBB training has proven effective, but a major challenge is maintaining resuscitation skills over time. Safa Sanaulo Nepal (SSN) designed an evidence-based strategy for scaling up training and sustaining long-term retention. This paper describes the implementation of SSN...
Decision Making Surrounding Mode of Initial Enteral Feeding in Critically Ill Pediatric Patients
Arianne M Maya, BS, Kathleen R Ehresmann, MD, Moiz M Mustafa, MD, Janice A Taylor, MD, MEd, Shawn D Larson, MD, Saleem Islam, MD, MPH and Robin T Petroze, MD, MPH
Article Type: Original Article | First Published: January 21, 2022
Wide practice variation and weak guidelines exist when considering enteral feeding options and the decision to proceed with gastric or postpyloric enteral feeding in critically ill infants and children. The purpose of this pilot study is to explore provider decision making in early feeding of critically ill pediatric patients, review the indications for choice of enteral feeding access, and qualitatively explore the role of institutional culture in medical decision making. In-person structured i...