Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci.

Objective: Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease and has a strong genomic component. To date, JIA genetic association studies have had limited sample sizes, used heterogeneous patient populations, or included only candidate regions. The aim of this study was to identify new associations between JIA patients with oligoarticular disease and those with IgM rheumatoid factor (RF)-negative polyarticular disease, which are clinically similar and the most prevalent JIA disease subtypes.

A translational cellular model to study the impact of high-frequency oscillatory ventilation on human epithelial cell function.

Unlabelled: High-frequency oscillatory ventilation (HFOV) has been proposed as gentle ventilation strategy to prevent lung injury in the preterm infant. High-frequency jet ventilation leads to dimensional and mechanical airway deformation in animal airway models, which is consistent with translational studies demonstrating the impact of oxygen and biophysical stresses on normal airway cellular function. There is an overall paucity of clinical and cellular data on the impact of HFOV on the conducting airway.

Racial and Ethnic Heterogeneity in the Association Between Total Cholesterol and Pediatric Obesity.

Total cholesterol (TC) directly correlates with overweight/obesity, but it remains unclear if this association varies by race and ethnicity. We assessed the association as well as the racial/ethnic heterogeneity in this relationship. Data on 63,863 children were assessed using electronic medical records between 2010 and 2011.

An Experimental Study of Procedures to Enhance Ratings of Fidelity to an Evidence-Based Family Intervention.

The valid and reliable assessment of fidelity is critical at all stages of intervention research and is particularly germane to interpreting the results of efficacy and implementation trials. Ratings of protocol adherence typically are reliable, but ratings of therapist competence are plagued by low reliability. Because family context and case conceptualization guide the therapist's delivery of interventions, the reliability of fidelity ratings might be improved if the coder is privy to client context in the form of an ecological assessment.

Pediatric anti-NMDA (N-methyl D-aspartate) receptor encephalitis.

Background: We report the clinical features and course of pediatric patients presenting with anti-N-methyl D-aspartate receptor (NMDA-R) encephalitis.

Methods: Single-center 4-year observational study of pediatric encephalitis associated with NMDA-R antibodies in the serum and/or the cerebrospinal fluid.

Results: Three girls with anti-NMDA-R encephalitis were identified.

The longitudinal anatomy of the long head of the biceps tendon and implications on tenodesis.

Purpose: Regarding biceps tenodesis, there are no evidence-based recommendations for the ideal level at which to cut and stabilize the tendon. The purpose of this study is to provide information referencing the tendon for potential clinical applications during biceps tenodesis.

Methods: Forty-three embalmed shoulder specimens were dissected, and markers were placed at four points along each biceps tendon: (1) proximal border of the bicipital groove, (2) distal border of the bicipital groove, (3) proximal edge of the pectoralis major insertion, and (4) musculotendonous junction.

The role of magnetic resonance imaging in acute cervical spine fractures.

Background Context: The role of magnetic resonance imaging (MRI) in neurologically intact cervical spine fractures is not well defined. To our knowledge, there are no studies that clearly identify the indications for MRI in this particular scenario. Controversy remains regarding the use of MRI in at-risk patients, primarily the obtunded and elderly patients.

Work of breathing indices in infants with respiratory insufficiency receiving high-flow nasal cannula and nasal continuous positive airway pressure.

Objective: To compare work of breathing (WOB) indices between two nCPAP settings and two levels of HFNC in a crossover study.

Study Design: Infants with a CGA 28-40 weeks, baseline of HFNC 3-5 lpm or nCPAP 5-6 cmH2O and fraction of inspired oxygen ≤40% were eligible. WOB was analyzed using respiratory inductive plethysmography (RIP) for each of the four modalities: HFNC 3 and 5 lpm, nCPAP 5 and 6 cmH2O.

Blau arteritis resembling Takayasu disease with a novel NOD2 mutation.

Objective: To put forward a new concept--Blau arteritis, a form of large-vessel vasculitis phenotypically related to Takayasu disease but genetically and clinically part of an expanded phenotype of Blau syndrome.

Methods: We provide a clinical description of a new case and summarize previously published cases of arteritis associated with Blau syndrome. Genetic testing was performed by direct sequencing of exon 4 of the NOD2 gene.

Nutritional strategy for adolescents undergoing bariatric surgery: report of a working group of the Nutrition Committee of NASPGHAN/NACHRI.

Surgical options for the treatment of adolescent obesity have been gaining popularity. Adolescent patients present a particular challenge to clinicians, secondary to age-related issues, revolving around both mental and physical growth. These age-related issues require a unique approach to nutritional intervention for adolescents undergoing bariatric surgery as opposed to standardized approaches for adults.

Overview of penicillin allergy.

Allergy to penicillin is the most commonly reported antibiotic allergy. However, most patients who report a positive history of a prior reaction to penicillin are not found to be allergic to penicillin upon skin testing. Often, this history is vague or based on a parent's recollection of an event that occurred in the distant past.

Blau syndrome revisited.

Purpose Of Review: Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by granulomatous polyarthritis and uveitis. Not only there has been significant progress in disease characterization but also the biological pathways associated with NOD2 and related proteins of the innate immunity are better understood.

Recent Findings: The phenotype of Blau syndrome has proven to be more complex than initially thought.

Cutting edge issues in rheumatic fever.

Although the incidence of acute rheumatic fever and rheumatic heart disease has decreased significantly in regions of the world where antibiotics are easily accessible, there remains a high incidence in developing nations as well as in certain regions where there is a high incidence of genetic susceptibility. These diseases are a function of poverty, low socioeconomic status, and barriers to healthcare access, and it is in the developing world that a comprehensive prevention program is most critically needed. Development of group A streptococcal vaccines has been under investigation since the 1960s and 50 years later, we still have no vaccine.

High-flow nasal cannula: impact on oxygenation and ventilation in an acute lung injury model.

Introduction: High-flow nasal cannula therapy (HFNC) has been shown to be more effective than continuous positive airway pressure (CPAP) in reducing intubations and ventilator days. HFNC likely provides mechanisms to support respiratory efficiency beyond application of distending pressure. We reason that HFNC washout of nasopharyngeal dead space impacts CO(2) removal along with oxygenation.

Higher self-reported physical activity is associated with lower systolic blood pressure: the Dietary Intervention Study in Childhood (DISC).

Objective: Children participating in a dietary clinical trial were studied to (1) assess physical activity patterns in boys and girls longitudinally from late childhood through puberty and (2) determine the association of level of physical activity on systolic blood pressure, low-density lipoprotein cholesterol, and BMI.

Patients And Methods: In the Dietary Intervention Study in Childhood, a randomized clinical trial of a reduced saturated fat and cholesterol diet in 8- to 10-year-olds with elevated low-density lipoprotein, a questionnaire that determined time spent in 5 intensity levels of physical activity was completed at baseline and at 1 and 3 years. An estimated-metabolic-equivalent score was calculated for weekly activity; hours per week were calculated for intense activities.

Pediatric granulomatous arthritis: an international registry.

Objective: Blau syndrome and its sporadic counterpart, early-onset sarcoidosis, share an identical phenotype featuring the classic triad of arthritis, dermatitis, and uveitis and are associated with mutations of CARD15 in 50-90% of cases. We chose the term "pediatric granulomatous arthritis" to refer to both. An international registry was established in the spring of 2005 to define the phenotype spectrum and establish the mutation frequency and variants.

Physiologic implications of helium as a carrier gas for inhaled nitric oxide in a neonatal model of Bethanecol-induced bronchoconstriction.

Objective: To compare heliox to nitrogen-oxygen (nitrox) as a carrier gas for inducible nitric oxide (iNO) in the presence of pharmacologically inhaled bronchoconstriction. We hypothesized that respiratory resistance and gas exchange would improve when iNO is delivered with heliox.

Design: Interventional laboratory study.

Blau syndrome and related genetic disorders causing childhood arthritis.

Blau Syndrome (BS) is an inheritable disorder characterized by granulomatous polyarthritis, panuveitis, and exanthema. It was described by Edward Blau in 1985, the same year in which Douglas Jabs reported a very similar family. Clinically indistinguishable from early onset sarcoidosis (EOS), both are now known to share a mutated form of caspase recruitment domain-15 (CARD 15), a protein involved in activation of nuclear factor kappa B which is in turn an up-regulator of pro-inflammatory cytokine transcription.

Caspase recruitment domain 15 mutations and rheumatic diseases.

Purpose Of Review: The purpose of this article is to review the foundational work and current developments on a group of rheumatic disorders associated with mutations in the caspase recruitment domain 15/nucleotide oligomerization domain 2 gene.

Recent Findings: To date, there are at least 10 arthritic conditions for which specific genetic mutations have been demonstrated. They include familial Mediterranean fever; tumor necrosis factor receptor associated periodic syndrome; hyper immunoglobulin D syndrome; neonatal onset multisystemic inflammatory disease; pyogenic arthritis pyoderma gangrenosum and acne; Muckle-Wells syndrome; familial cold autoinflammatory syndrome; immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome; Crohn's disease; and familial and sporadic sarcoid granulomatous arthritis.

Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis.

Patients with sporadic early-onset granulomatous arthritis are clinically identical to Blau syndrome, but without the family history. Blau syndrome is an autosomal dominant inherited disease and is known to be caused by mutations in the CARD15 gene (also called NOD2). We investigated the hypothesis that an individual with sporadic early onset granulomatous arthritis may have a Blau syndrome mutation in CARD15/NOD2.

Tracheal gas insufflation-augmented continuous positive airway pressure in a spontaneously breathing model of neonatal respiratory distress.

Respiratory distress syndrome (RDS) in neonates is characterized by labored breathing and poor gas exchange, often requiring ventilatory support. Continuous positive airway pressure (CPAP) is a preferred intervention to support spontaneous ventilatory efforts by sustaining lung volume recruitment, while it prevents derecruitment during exhalation by maintaining end-expiratory pressure. However, CO2 retention during CPAP often results in the need for mechanical ventilation.

The role and impact of gender and age on children's preferences for pediatricians.

Objective: To determine the physician gender preferences of children and the consequences of meeting/not meeting children's preferences, both in their liking and feeling comfortable in talking with the pediatrician.

Methods: A convenience sample of 125 parent-child pairs completed surveys when coming for an outpatient visit to a university-sponsored, urban pediatric practice.

Results: Both adolescents and preadolescents (especially females) as young as 9 years of age expressed a gender preference for their physician.

Transitioning to adult health care facilities for young adults with a chronic condition.

Youth with chronic conditions and special health care needs are surviving into adulthood. In certain circumstances, these youth may choose to remain with their pediatricians for their health care needs. However, most youth will require complex coordinated care in order for them to live full and productive lives to the best that they are able.

Teaching prevention in surgery--is it an oxymoron?

Although surgery is not often thought of as the optimal pathway to health, it nonetheless can play a key role in many facets of medical student education involving disease prevention. This article defines the scope of the surgeon's involvement in teaching disease prevention and health promotion to medical students, enumerates possible learning objectives that may be (and often already are) incorporated into their surgical education, and describes seven examples of programs that have used innovative methods to include prevention teaching in their surgery curricula. There should be specific educational standards regarding prevention within the curriculum of each clinical specialty, and educational programs should be evaluated with outcome measures.