A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.

Background: The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Previously only known to cause autosomal dominant myotonia or periodic paralysis, now recessive mutations have been found causing congenital myopathies and congenital myasthenic syndromes.

Case Presentation: A 27-year-old woman who was born with Arnold-Chiari malformation, hydrocephalus, high-arched palate, bilateral hip dysplasia, and severe scoliosis presented for evaluation of episodic muscle stiffness and weakness.

Risk of childhood wheeze and asthma after respiratory syncytial virus infection in full-term infants.

Background: Most studies addressing the association between RSV and recurrent wheezing (RW) and asthma have been conducted in patients at risk for lung morbidity. Data in full-term infants are limited.

Methods: The risk of RW/asthma during the first 5 years of life in full-term infants hospitalized with RSV during the first year (Y) of life was estimated using 2010-16 data from three claims databases in USA (Truven MarketScan Commercial Claims and Encounters Database [CCAE], Truven Health MarketScan Multi-State Medicaid [MDCD], and Optum Clinformatics Extended Data Mart-Socio-Economic Status [SES]).

Alkaline Phosphatase Replacement Therapy for Hypophosphatasia in Development and Practice.

Hypophosphatasia (HPP) is an inherited disorder that affects bone and tooth mineralization characterized by low serum alkaline phosphatase. HPP is caused by loss-of-function mutations in the ALPL gene encoding the protein, tissue-nonspecific alkaline phosphatase (TNSALP). TNSALP is expressed by mineralizing cells of the skeleton and dentition and is associated with the mineralization process.

Pain Is a Common and Burdensome Symptom of Atopic Dermatitis in United States Adults.

Background: Atopic dermatitis (AD) is associated with skin pain. However, little is known about the prevalence and associations of pain in AD.

Objective: To characterize the frequency, intensity, characteristics, and associations of pain from AD.

Viral Bacterial Interactions in Children: Impact on Clinical Outcomes.

Respiratory viral infections are associated with significant morbidity and mortality in children < 5 years of age worldwide. Among all respiratory viruses, respiratory syncytial virus (RSV) is the world's leading cause of bronchiolitis and pneumonia in young children. There are known populations at risk for severe disease but the majority of children who require hospitalization for RSV infection are previously healthy.

Validity and Reliability of a New Tool to Evaluate Impaired Airway Clearance in Hospitalized Pediatric Subjects With Respiratory Distress.

Background: Chest physiotherapy has been reported to be beneficial in specific clinical contexts, yet it carries a risk of potential serious adverse events with little benefit in other patients. Therefore, identifying and limiting airway clearance therapies to patients with the greatest potential benefit and least risk is clinically relevant and important. This study aims to validate the Airway Clearance and Expansion Index (ACE-I) for the serial assessment of hospitalized pediatric patients with impaired airway clearance and to establish reliability in score acquisition across a range of pediatric respiratory disease states.

Pediatric Fontan Associated Liver Disease: Non-invasive Evaluation with Serologic Markers and Acoustic Radiation Force Impulse (ARFI) Elastography.

Hepatic fibrosis is a significant complication in adult Fontan patients suggesting development as a function of time since the surgery. Children with Fontan circulation are not routinely assessed for development of liver disease. We aimed to evaluate the effectiveness of serologic biomarkers and acoustic radiation force impulse (ARFI) elastography to detect liver disease in pediatric Fontan patients.

Validation and Interpretation of Short Form 12 and Comparison with Dermatology Life Quality Index in Atopic Dermatitis in Adults.

Quality-of-life assessments are not standardized in atopic dermatitis (AD). We sought to determine the validity of the Short Form (SF)-12, a generic quality-of-life assessment, in AD and compare its measurement properties with the Dermatology Life Quality Index (DLQI). A cross-sectional, population-based study of 3,495 adults was performed, including 602 adults who met the modified United Kingdom Working Party Criteria for AD.

Validation of five patient-reported outcomes for atopic dermatitis severity in adults.

Background: Structured patient-reported outcomes of atopic dermatitis (AD) severity are not standardized in clinical practice.

Objectives: To determine the construct validity, internal consistency, cross-cultural validity and floor or ceiling effects of multiple AD severity assessments.

Methods: This is a cross-sectional, population-based study of 2893 adults, including 602 adults who met a modified set of U.

Points & Pearls: Pediatric community-acquired pneumonia: diagnosis and management in the emergency department.

Worldwide, pneumonia is the most common cause of death in children aged < 5 years. Distinguishing viral from bacterial causes of pneumonia is paramount to providing effective treatment but remains a significant challenge. For patients who can be managed with outpatient treatment, the utility of laboratory tests and radiographic studies, as well as the need for empiric antibiotics, remains questionable.

Pediatric community-acquired pneumonia: diagnosis and management in the emergency department.

Worldwide, pneumonia is the most common cause of death in children aged < 5 years. Distinguishing viral from bacterial causes of pneumonia is paramount to providing effective treatment but remains a significant challenge. For patients who can be managed with outpatient treatment, the utility of laboratory tests and radiographic studies, as well as the need for empiric antibiotics, remains questionable.

PREVAPIX-ALL: Apixaban Compared to Standard of Care for Prevention of Venous Thrombosis in Paediatric Acute Lymphoblastic Leukaemia (ALL)-Rationale and Design.

Venous thromboembolic (VTE) complications in children and adolescents with acute lymphoblastic leukaemia (ALL) and T or B cell lymphoblastic lymphoma (T/B cell LL) can result not only in life-threatening acute complications but also contribute to significant long-term sequelae. The PREVAPIX-ALL study is an open-label randomized controlled study comparing outcomes of treatment with prophylactic dose apixaban versus no anticoagulation (standard of care) in children and adolescents with ALL and T/B cell LL receiving standard induction chemotherapy with asparaginase and the presence of a central venous access device. On day 29 of induction, all patients undergo screening imaging with duplex ultrasonography and echocardiography.

Characterizing adolescents with heavy menstrual bleeding and generalized joint hypermobility.

Patients with generalized joint hypermobility (JHM) may experience excessive bruising/bleeding, with heavy menstrual bleeding (HMB) commonly reported. We performed a retrospective review of 30 adolescents seen in a Young Women's Hematology Clinic with both HMB and JHM. We found that (1) a significant delay (mean 36 months, range 5-72) occurred between menarche and referral to specialty care, (2) HMB had moderate to severe impact on school and physical activities in 60% of patients, and (3) most patients (68%) required escalation of their initial therapy.

A decade of antimicrobial resistance in Staphylococcus aureus: A single center experience.

Background: The emergence of community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) resulted in the recommended use of clindamycin and trimethoprim-sulfamethoxazole (TMP-SMX) for suspected S. aureus infections. The objective of this study was to determine the resistance to methicillin, clindamycin, and TMP-SMX in S.

An Open-Label, Single-Arm, Efficacy Study of Tranexamic Acid in Adolescents with Heavy Menstrual Bleeding.

Study Objective: Heavy menstrual bleeding (HMB) occurs in up to 40% of adolescent girls, significantly affecting their daily activities. Identifying alternative treatment strategies for HMB is particularly important for adolescents who prefer not to take hormonal contraception. Our objective was to determine whether use of tranexamic acid (TA) would increase health-related quality of life and decrease menstrual blood loss (MBL) in adolescents with HMB.

Management of Adrenal Insufficiency Risk After Long-term Systemic Glucocorticoid Therapy in Duchenne Muscular Dystrophy: Clinical Practice Recommendations.

Long-term glucocorticoid therapy has improved outcomes in patients with Duchenne muscular dystrophy. However, the recommended glucocorticoid dosage suppresses the hypothalamic-pituitary-adrenal axis, leading to adrenal insufficiency that may develop during severe illness, trauma or surgery, and after discontinuation of glucocorticoid therapy. The purpose of this review is to highlight the risk of adrenal insufficiency in this patient population, and provide practical recommendations for management of adrenal insufficiency, glucocorticoid withdrawal, and adrenal function testing.

Reduction of Analgesia Duration after Tracheostomy during Neonatal Intensive Care: A Quality Initiative.

Introduction: As survival has improved in the Neonatal Intensive Care Unit (NICU), there has been a 10-fold increase in the proportion of infants requiring a tracheostomy. At our institution, we observed a wide variation in the duration of opioid use posttracheostomy from 6 to 148 days. We aimed to decrease the duration of opioid exposure in postoperative tracheostomy patients in the NICU from a baseline average of 24 days to 7 days by December 31, 2017.

Health Utility Scores of Atopic Dermatitis in US Adults.

Background: The impact of atopic dermatitis (AD) on health-related quality of life and health utility in the US adult population is not well established.

Objective: To determine the health utilities and quality-adjusted life-years (QALYs) lost in adults with AD versus without AD in the US population.

Methods: A cross-sectional, population-based study of 3495 adults was performed.

Pediatric Adrenal Insufficiency: Diagnosis, Management, and New Therapies.

Adrenal insufficiency may result from a wide variety of congenital or acquired disorders of hypothalamus, pituitary, or adrenal cortex. Destruction or dysfunction of the adrenal cortex is the cause of primary adrenal insufficiency, while secondary adrenal insufficiency is a result of pituitary or hypothalamic disease. Timely diagnosis and clinical management of adrenal insufficiency are critical to prevent morbidity and mortality.