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Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders characterized by deficiencies in specific enzymes involved in the catabolism of glycosaminoglycans (GAGs). These deficiencies cause excessive metabolites to accumulate in multiple organs. There are eight different MPS disorders, contributing to the wide variation in clinical presentation. Depending on the severity and subtype of the disease, some children live normal life spans, while others have a more grim prognosis. Children with MPS can present with neurologic, behavioral, skeletal, cardiovascular, gastrointestinal, or respiratory abnormalities...

PURPOSE OF REVIEW: Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with increased precision and lower cost. These powerful technologies raise a number of ethical issues in pediatrics, primarily because of the frequent lack of clinical utility of genetic information, the generation of secondary results and questions over the proper scope of parental authority for testing. RECENT FINDINGS: Several professional organizations in the fields of genetics and pediatrics have published new guidance on the ethical, legal, and policy issues relevant to genetic testing in children...

Few studies are available to inform duration of intravenous antibiotics for children and when it is safe and appropriate to switch to oral antibiotics. We have systematically reviewed antibiotic duration and timing of intravenous to oral switch for 36 paediatric infectious diseases and developed evidence-graded recommendations on the basis of the review, guidelines, and expert consensus. We searched databases and obtained information from references identified and relevant guidelines. All eligible studies were assessed for quality...

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Neurodevelopmental disorders (NDDs) are defined as a group of disorders caused by changes in early brain development, resulting in behavioral and cognitive alterations in sensory and motor systems, speech, and language. NDDs affect approximately 1-2% of the general population. Up to 80% of children with NDDs are reported to have disrupted sleep; subsequent deleterious effects on daytime behaviors, cognition, growth, and overall development of the child are commonly reported. Examples of NDDs discussed in this review include autism spectrum disorder, cerebral palsy, Rett syndrome, Angelman syndrome, Williams syndrome, and Smith-Magenis syndrome...

The recognition, evaluation, and early treatment of nephrotic syndrome in infants and children originate from physicians dating back to Hippocrates. It took nearly another 1000 years before the condition was described for its massive edema requiring treatment with herbs and other remedies. A rich history of observations and interpretations followed over the course of centuries until the recognition of the combination of clinical findings of foamy urine and swelling of the body, and measurements of urinary protein and blood analyses showed the phenotypic characteristics of the syndrome that were eventually linked to the early anatomic descriptions from first kidney autopsies and then renal biopsy analyses...

Although the need for effective long-term follow-up for patients with celiac disease (CD) has been recognized by many expert groups, published practice guidelines have not provided a clear approach for the optimal management of these patients. In an attempt to provide a thoughtful and practical approach for managing these patients, a group of experts in pediatric CD performed a critical review of the available literature in 6 categories associated with CD to develop a set of best practices by using evidence-based data and expert opinion...

Viral bronchiolitis is a common clinical syndrome affecting infants and young children. Concern about its associated morbidity and cost has led to a large body of research that has been summarised in systematic reviews and integrated into clinical practice guidelines in several countries. The evidence and guideline recommendations consistently support a clinical diagnosis with the limited role for diagnostic testing for children presenting with the typical clinical syndrome of viral upper respiratory infection progressing to the lower respiratory tract...

Postpartum infections remain a leading cause of neonatal morbidity and mortality worldwide. A high percentage of these infections may stem from bacterial colonization of the umbilicus, because cord care practices vary in reflection of cultural traditions within communities and disparities in health care practices globally. After birth, the devitalized umbilical cord often proves to be an ideal substrate for bacterial growth and also provides direct access to the bloodstream of the neonate. Bacterial colonization of the cord not infrequently leads to omphalitis and associated thrombophlebitis, cellulitis, or necrotizing fasciitis...

Disseminated intravascular coagulation (DIC) in paediatrics is associated with significant morbidity and mortality. Although there have been several recent advances in the pathophysiology of DIC, most of these studies were done in adults. Since the haemostatic system is very different in early life and changes dramatically with age, creating a variety of challenges for the clinician, delay in the diagnosis of DIC can happen until overt DIC is evident. In this review article, we report the aetiology, pathophysiology, clinical manifestations, diagnostic tests and a management algorithm to guide paediatricians when treating patients with DIC...

OBJECTIVES: To identify the clinical presentation of children and adolescents affected by 1 of 4 cardiac conditions predisposing to sudden cardiac arrest: hypertrophic cardiomyopathy, long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and anomalous origin of the left coronary artery from the right sinus of Valsalva (ALCA-R). STUDY DESIGN: This was a retrospective review of newly diagnosed pediatric patients with hypertrophic cardiomyopathy, LQTS, CPVT, and ALCA-R referred for cardiac evaluation at 6 US centers from 2008 to 2014...

Epidemiological studies and case reports have demonstrated an increased rate of development of diabetes mellitus consequent to taking diverse types of medication. This review explores this evidence linking these medications and development of diabetes and presents postulated mechanisms by which the medications might cause diabetes. Some medications are associated with a reduction in insulin production, some with reduction in insulin sensitivity, and some appear to be associated with both reduction in insulin production and insulin sensitivity...

Injury is still the number 1 killer of children ages 1 to 18 years in the United States (https://www.cdc.gov/nchs/fastats/children.htm). Children who sustain injuries with resulting disabilities incur significant costs not only for their health care but also for productivity lost to the economy. The families of children who survive childhood injury with disability face years of emotional and financial hardship, along with a significant societal burden. The entire process of managing childhood injury is enormously complex and varies by region...

Regurgitation, infantile colic and, or, constipationare frequent during the first 12 months of life, and although they aremost of the time functional disorders, these conditions can also be related to cow's milk. Practical algorithms for their management are presented. Management consists of exclusion of warning signs for organic disease, parental reassurance and nutritional strategies. The proposed algorithms will assist healthcare providers to manage frequent gastrointestinal and cows' milkrelated symptoms in infants...

Probiotics are defined as "live microorganisms that, when administered in adequate amounts, confer a health benefit on the host". Unfortunately, misuse of the term probiotic is very common. According to the regulation of the European food safety authority (EFSA) health claims on pre- and probiotics are not judged as favorable. Scientific societies should give guidance to the consumers and health care professionals on the use of probiotics and prebiotics for prevention and disease management. There is currently no positive recommendation from international scientific medical societies to use prebiotics or probiotics for treatment of food allergy or other allergic manifestations and for prevention of food allergy, allergic rhinitis, and asthma...

The safe sedation of children for procedures requires a systematic approach that includes the following: no administration of sedating medication without the safety net of medical/dental supervision, careful presedation evaluation for underlying medical or surgical conditions that would place the child at increased risk from sedating medications, appropriate fasting for elective procedures and a balance between the depth of sedation and risk for those who are unable to fast because of the urgent nature of the procedure, a focused airway examination for large (kissing) tonsils or anatomic airway abnormalities that might increase the potential for airway obstruction, a clear understanding of the medication's pharmacokinetic and pharmacodynamic effects and drug interactions, appropriate training and skills in airway management to allow rescue of the patient, age- and size-appropriate equipment for airway management and venous access, appropriate medications and reversal agents, sufficient numbers of staff to both carry out the procedure and monitor the patient, appropriate physiologic monitoring during and after the procedure, a properly equipped and staffed recovery area, recovery to the presedation level of consciousness before discharge from medical/dental supervision, and appropriate discharge instructions...

Magnesium is essential to the proper functioning of numerous cellular processes. Magnesium ion (Mg2+ ) deficits, as reflected in hypomagnesemia, can cause neuromuscular irritability, seizures and cardiac arrhythmias. With normal Mg2+ intake, homeostasis is maintained primarily through the regulated reabsorption of Mg2+ by the thick ascending limb of Henle's loop and distal convoluted tubule of the kidney. Inadequate reabsorption results in renal Mg2+ wasting, as evidenced by an inappropriately high fractional Mg2+ excretion...

Obstructive sleep apnea syndrome (OSAS) has various negative health and behavioral consequences in the pediatric population. As shown in adults, there are metabolic derangements such as obesity, insulin sensitivity, dyslipidemia, and metabolic syndrome, as well as cardiovascular derangements like hypertension, chronic inflammation, endothelial dysfunction, ventricular size/function abnormalities, and even elevated pulmonary arterial pressures, that can be seen in children with OSAS. The first two sections will discuss the metabolic and cardiovascular consequences on OSAS in children...

The profile of global health today presents a striking reciprocal distribution between parasitic diseases in many of the world's lower-income countries, and ever-increasing levels of inflammatory disorders such as allergy, autoimmunity and inflammatory bowel diseases in the more affluent societies. Attention is particularly focused on helminth worm parasites, which are associated with protection from allergy and inflammation in both epidemiologic and laboratory settings. One mechanistic explanation of this is that helminths drive the regulatory arm of the immune system, abrogating the ability of the host to expel the parasites, while also dampening reactivity to many bystander specificities...