Pediatric Annals最新文献

Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy that affects individuals worldwide. The mutation in the beta-globin gene leads to abnormal hemoglobin production, sickle hemoglobin, which polymerizes under stress leading to, among other end-organ manifestations, chronic hemolytic anemia, debilitating vaso-occlusive crises, and stroke. Unfortunately, chronic stress on end-organs impacts the life expectancy of patients with SCD, which in the United States averages 43 years, approximately 36 years less than people without the disease. Here, we review the progress made in curative interventions for those with SCD, namely allogeneic hematopoietic cell transplantation and gene therapy. These interventions continue to evolve as we better understand SCD pathophysiology, use new graft-versus-host disease prophylaxis regimens, expand stem cell donor options, and understand the genetic control of hemoglobin production. Although significant progress has been made, many gaps remain in the successful implementation of these interventions globally and for all patients. [Pediatr Ann. 2024;53(2):e56-e61.].

Obstructive sleep apnea (OSA) is a respiratory disorder that has a high prevalence in patients with craniofacial, neurocognitive, and neuromuscular disorders. Currently, the treatments for this population are diverse and depend on the individual conditions of the patient and the severity of the case. However, there are no multidisciplinary dental treatment guidelines. The aim of the present study was to determine the multidisciplinary dental treatment alternatives in patients with craniofacial, neurocognitive, and neuromuscular disorders with a diagnosis of OSA through evidence-based medicine. A systematic review of the literature has been performed by searching scientific articles in the PubMed, Cochrane, Ovid, ScienceDirect and Scopus databases, through controlled and uncontrolled language. Articles were classified according to the level of evidence and grades of recommendation through the Scottish Intercollegiate Guidelines Network. A total of 19,439 references were identified, of which 15 articles met the predetermined requirements to be included in the investigation. The articles included for this systematic review showed that mandibular distraction osteogenesis and adenotonsilectomy are the first-choice therapies for craniofacial and neurocognitive disorders. However, for neuromuscular disorders, the findings reported were not enough to provide information about surgical or nonsurgical alternatives. Despite the reported high frequency of OSA in those children with craniofacial, neurocognitive, and neuromuscular disorders, the evidence on the surgical and nonsurgical therapeutic success for OSA in these patients is scarce. It is necessary to perform future studies to investigate successful therapies for OSA in children. [Pediatr Ann. 2024;53(2):e62-e69.].

Sickle cell disease refers to a group of inherited blood disorders in which hemoglobin polymerization leads to hemolysis and vaso-occlusion. This causes a myriad of complications during a patient's life span, ranging from anemia, infections, and acute and chronic pain to stroke and multiorgan dysfunction. Although there have been dramatic improvements in childhood survival thanks to improved supportive care with penicillin prophylaxis, immunizations, and improved transfusion practices, there was a dearth of disease-modifying therapies, with hydroxyurea being the only medication for >20 years. Here, we discuss the newer therapies for sickle cell disease that have emerged in recent years. [Pediatr Ann. 2024;53(2):e52-e55.].

Children, particularly adolescents, are dying from firearm-related injuries. Screening for firearms, early recognition of firearm-related concerns, appropriate referrals, and follow-up are crucial to the safety of our patients and their families. Clinicians are strongly encouraged to address firearm-related violence during clinical encounters. Risk reduction, advocacy, and policy implementation are key in mitigating the long-term negative sequelae of firearm violence in youth. The epidemiology of firearm-related death, mass shootings, school firearm violence, adolescent health, prevention, injury patterns, postinjury care, policy, and resources are all discussed in this article. [Pediatr Ann. 2024;53(1):e28-e33.].

Eating disorders, especially anorexia nervosa, are complex and devastating illnesses. Although eating disorders have a high mortality rate and are relatively common, there are many barriers for those seeking treatment. Provider training and education, weight bias among health care providers, geographical and language barriers, and a lack of options because of insurance restrictions prevent many families from receiving appropriate care, especially in smaller or rural communities. In those areas, providers are left to piece together treatment using a small number of other providers from different disciplines who have a willingness to work with this population. Outpatient family based treatment is an evidenced-based treatment of anorexia nervosa and relies on a multidisciplinary approach to care. Community-based care teams can be an effective way to treat those with eating disorders seeking family based treatment. There are several strategies for building collaborative teams that can provide comprehensive and accessible care to those with few options. [Pediatr Ann. 2024;53(1):e22-e27.].

Primary care pediatricians, family practitioners, and primary care advanced practice clinicians frequently need to examine male adolescent genitalia as part of a comprehensive physical examination. Although this part of the examination may be uncomfortable for clinicians, taking a structured approach to the examination can mitigate clinicians' apprehension as well as enhance their ability to use this evaluation to identify potential pathology for the patient. Familiarity with the male genitourinary examination will also allow clinicians to definitively identify medical urgencies and emergencies for timely intervention. This review will provide the clinician with a structured approach to the male genitourinary examination while highlighting common pathology that may be encountered during the examination. [Pediatr Ann. 2024;53(1):e5-e9.].

Heat-related illness commonly affects adolescent patients, especially as summer approaches and global temperature extremes worsen. Basic counseling on sunburn prevention can decrease the risk for future malignancies, and rapidly preventing, identifying, and treating heat stroke can prevent severe morbidity and mortality. This article will review the epidemiology of exertional heat-related illness and the variations in presentations and pathology, from heat rash and sunburn to heat exhaustion and heat stroke. By the end of this review clinicians should be able to identify and treat different heat-related illnesses in adolescents and potentially save a life. [Pediatr Ann. 2024;53(1):e17-e21.].

Transient erythroblastopenia of childhood is a rare, benign, self-limited condition seen in infants and young children. Laboratory studies will show moderate or severe normochromic normocytic anemia accompanied by absent or low reticulocytes, neutropenia, and mild thrombocytosis or thrombocytopenia. The etiology is unclear, but it has been associated with clinical or laboratory evidence of a recent viral syndrome. Initial diagnostic studies should be aimed at identifying potential causes of anemia, but a confirmed diagnosis is usually obtained once the hemoglobin level has normalized spontaneously. Differentiation from Diamond-Blackfan anemia is critical, especially in infants. Once the diagnosis is established, treatment is supportive, but red blood cell transfusion is indicated in severe cases. High clinical suspicion is imperative to avoid needless diagnostic and therapeutic measures. [Pediatr Ann. 2024;53(1):e34-e36.].