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Tobacco Retail Licensing and Youth Product Use

Vie, 01/02/2019 - 10:01
BACKGROUND:

Restricting youth access to tobacco is a central feature of US tobacco regulatory policy, but impact of local tobacco retail licensing (TRL) regulation on cigarette smoking rates remains uncertain. Effects of TRL on other tobacco product use and use as adolescents reach the age to legally purchase tobacco products has not been investigated.

METHODS:

Prevalences of ever and past 30-day cigarette, electronic cigarette (e-cigarette), cigar, and hookah use were assessed in a survey of a cohort of 1553 11th- and 12th-grade adolescents (mean age: 17.3 years); rates of initiation were evaluated 1.5 years later. An American Lung Association (2014) youth access grade was assigned to each of 14 political jurisdictions in which participants lived on the basis of the strength of the local TRL ordinance.

RESULTS:

At baseline, participants living in 4 jurisdictions with "A" grades (ie, with most restrictive ordinances) had lower odds of ever cigarette use (odds ratio [OR] 0.61; 95% confidence interval [CI] 0.41–0.90) and of past 30-day use (OR 0.51; 95% CI 0.29–0.89) than participants in 10 D- to F-grade jurisdictions. At follow-up at legal age of purchase, lower odds of cigarette use initiation (OR 0.67; 95% CI 0.45–0.99) occurred in jurisdictions with stronger TRL policy. Lower odds of e-cigarette initiation at follow-up (OR 0.74; 95% CI 0.55–0.99) and of initiation with past 30-day use (OR 0.45; 95% CI 0.23–0.90) were also associated with better regulation.

CONCLUSIONS:

Strong local TRL ordinance may lower rates of cigarette and e-cigarette use among youth and young adults.

Adolescent Mental Health and the Choking Game

Vie, 01/02/2019 - 10:01
OBJECTIVES:

To examine the demographic and health risk factors associated with participation in the choking game (CG), a dangerous and potentially fatal strangulation activity in which pressure is applied to the carotid artery to temporarily limit blood flow and oxygen.

METHODS:

We obtained data from 2 cross-sectional studies realized respectively in 2009 and 2013 among French middle school students. The 2009 (n = 746) and 2013 (n = 1025) data sets were merged (N = 1771), and multivariate modeling was conducted to examine demographic and clinical characteristics of youth reporting a lifetime participation in the CG. The 2 studies included questions about risk-taking behaviors and substance use, and standardized assessments were used to collect conduct disorder symptoms and depressive symptoms.

RESULTS:

In the merged 2009 and 2013 data set, the lifetime prevalence of CG participation was 9.7%, with no statistically significant differences between boys and girls. A multivariate logistic regression revealed that higher levels of conduct disorder symptoms (odds ratio: 2.33; P < .001) and greater rates of depressive symptoms (odds ratio: 2.18; P < .001) were both significantly associated with an increased likelihood of reporting CG participation.

CONCLUSIONS:

The significant relationship between elevated levels of depressive symptoms and participation in the CG sheds new light on the function of self-asphyxial activities. However, with the finding that higher rates of conduct disorder symptoms were the most important predictor of CG participation, it is suggested that the profile and the underlying motivations of youth who engage in this activity should be reexamined.

Quality Improvement Project to Decrease Delivery Room Intubations in Preterm Infants

Vie, 01/02/2019 - 10:01
BACKGROUND AND OBJECTIVES:

Avoidance of delivery room intubation (DRI) reduces death or bronchopulmonary dysplasia (BPD) in preterm neonates. Our objective with this quality improvement project was to decrease DRI rates by improving face mask positive pressure ventilation (Fm-PPV) among infants born ≤29 weeks’ gestation.

METHODS:

Key drivers of change were identified from a retrospective review of resuscitation records. A resuscitation bundle to optimize Fm-PPV including the use of a small round mask and end-tidal CO2 detectors, increasing peak inspiratory pressure when indicated, and debriefing after each intubation were implemented in consecutive plan-do-study-act cycles. The DRI rate was tracked by using a control chart. Resuscitation practice and outcomes of pre–quality improvement cohort (QIC) (January 2014–September 2015) were compared with post-QIC (October 2015–December 2016).

RESULTS:

Of the 314 infants who were resuscitated, 180 belonged to the pre-QIC and 134 to the post-QIC. The antenatal steroid administration rate was higher in the post-QIC (54% vs 88%). More infants in the post-QIC had resolution of bradycardia after Fm-PPV (56% vs 77%, P = .02). Infants in the post-QIC had lower DRI rates (58% vs 37%, P < .01), lower need for mechanical ventilation (85% vs 70%, P < .01), lower rates of BPD (26% vs 13%, P < .01), and severe retinopathy of prematurity (14% vs 5%, P = .01). Rates of DRI, BPD, and severe retinopathy of prematurity remained lower even after controlling for the potential confounders.

CONCLUSIONS:

Implementation of a resuscitation bundle decreased the DRI rate and improved outcomes of preterm infants.

Priorities for Pediatric Patient Safety Research

Vie, 01/02/2019 - 10:01
BACKGROUND:

Developing a research agenda that is focused on the priorities of key stakeholders may expedite implementation and dissemination. Our objective was to identify the highest-priority patient-safety research topics among pediatric clinicians, health care leaders, and families.

METHODS:

The Children’s Hospitals Solutions for Patient Safety Network is a network of >100 children’s hospitals working together to eliminate harm due to health care. Parents and site leaders responded to an open-ended, anonymous e-mail survey used to elicit research topics. A key stakeholder panel winnowed related topics and prioritized topics using Likert scale ratings. Site leaders and parents responded to a second anonymous e-mail survey and rated the importance of each topic. Health system executive interviews were used to elicit their opinions regarding top priorities for patient-safety research.

RESULTS:

The elicitation survey had 107 respondents who produced 49 unique research topics. The key stakeholder panel developed a final list of 24 topics. The prioritization survey had 74 respondents. Top-priority research topics concerned high reliability, safety culture, open communication, and early detection of patient deterioration and sepsis. During 7 qualitative interviews, health system executives highlighted diagnostic error, medication safety, deterioration, and ambulatory patient safety as priority areas.

CONCLUSIONS:

With this study, we take a first step toward a stakeholder-driven research agenda on the basis of the assumption that stakeholders are best positioned to determine what research will be used to address the problems of most concern to them.

Promoting Enrollment in Parenting Programs Among a Filipino Population: A Randomized Trial

Vie, 01/02/2019 - 10:01
BACKGROUND AND OBJECTIVES:

Evidence-based parenting programs prevent the onset and escalation of youth conduct problems. However, participation rates in such programs are low among hard-to-reach populations, including Filipino individuals. Compared with other ethnic groups, Filipino adolescents have significant mental health disparities. We evaluated the effectiveness of a theory-based, culturally tailored video versus a usual-care mainstream video on enrollment in an evidence-based parenting program among Filipino caregivers of children ages 6 to 12 years and tested theoretical mediators of intervention effect.

METHODS:

We randomly assigned 215 Filipino participants to view either a theory-based, culturally tailored video based on the Health Belief Model and Theory of Planned Behavior or a control video. The primary outcome was actual enrollment in an evidence-based parenting intervention. Mediators (knowledge and perceived susceptibility) were modeled as latent variables in a structural equation model.

RESULTS:

After the intervention, participants in the intervention group had significantly higher knowledge of Filipino adolescent behavioral health disparities and higher perceived susceptibility to adolescent risky sexual activity and illegal drug use. Controlling for child sex, parents in the intervention group had significantly greater odds of actual enrollment in the Incredible Years program (odds ratio = 2.667; 95% confidence interval: 1.328–5.354; P = .006). The intervention effects were mediated by increased knowledge and perceived susceptibility.

CONCLUSIONS:

Results demonstrated the effectiveness of a theory-based, culturally tailored intervention aimed at increasing participation of a hard-to-engage population in parenting interventions. Videos that include parents and health professionals with whom audiences can identify can be used to produce shifts in knowledge and behavior.

Ethical Implications for Providers Regarding Cannabis Use in Children With Autism Spectrum Disorders

Vie, 01/02/2019 - 10:01

Children with autism spectrum disorder (ASD) are at risk for self-injurious behaviors that can be difficult to treat in the context of co-occurring low IQ and adaptive skills. Increased prevalence and decriminalization of cannabis in some states have led to more frequent questions for pediatricians about the use of cannabis for difficult-to-treat developmental and behavioral conditions. What do we know about the possible benefits and risks of cannabis use in children with ASD? How should the clinician respond to a parent who expresses interest in cannabis to manage behavior in a child with ASD? Ethical analysis that includes harm reduction, health concerns, and information sharing will be discussed. We present commentary on the ethical implications of cannabis use in children with ASD and severe self-harm behaviors.

Barriers and Stigma Experienced by Gay Fathers and Their Children

Vie, 01/02/2019 - 10:01
BACKGROUND:

Gay men have become fathers in the context of a heterosexual relationship, by adoption, by donating sperm to 1 or 2 lesbian women and subsequently sharing parenting responsibilities, and/or by engaging the services of a surrogate pregnancy carrier. Despite legal, medical, and social advances, gay fathers and their children continue to experience stigma and avoid situations because of fear of stigma. Increasing evidence reveals that stigma is associated with reduced well-being of children and adults, including psychiatric symptoms and suicidality.

METHODS:

Men throughout the United States who identified as gay and fathers completed an online survey. Dissemination of the survey was enhanced via a "snowball" method, yielding 732 complete responses from 47 states. The survey asked how the respondent had become a father, whether he had encountered barriers, and whether he and his child(ren) had experienced stigma in various social contexts.

RESULTS:

Gay men are increasingly becoming fathers via adoption and with assistance of an unrelated pregnancy carrier. Their pathways to fatherhood vary with socioeconomic class and the extent of legal protections in their state. Respondents reported barriers to becoming a father and stigma associated with fatherhood in multiple social contexts, most often in religious institutions. Fewer barriers and less stigma were experienced by fathers living in states with more legal protections.

CONCLUSIONS:

Despite growing acceptance of parenting by same-gender adults, barriers and stigma persist. States’ legal and social protections for lesbian and gay individuals and families appear to be effective in reducing experiences of stigma for gay fathers.

Survival and Impairment of Extremely Premature Infants: A Meta-analysis

Vie, 01/02/2019 - 10:01
CONTEXT:

Survival of infants born at the limit of viability varies between high-income countries.

OBJECTIVE:

To summarize the prognosis of survival and risk of impairment for infants born at 22 + 0/7 weeks’ to 27 + 6/7 weeks’ gestational age (GA) in high-income countries.

DATA SOURCES:

We searched 9 databases for cohort studies published between 2000 and 2017 in which researchers reported on survival or neurodevelopmental outcomes.

STUDY SELECTION:

GA was based on ultrasound results, the last menstrual period, or a combination of both, and neurodevelopmental outcomes were measured by using the Bayley Scales of Infant Development II or III at 18 to 36 months of age.

DATA EXTRACTION:

Two reviewers independently extracted data and assessed the risk of bias and quality of evidence.

RESULTS:

Sixty-five studies were included. Mean survival rates increased from near 0% of all births, 7.3% of live births, and 24.1% of infants admitted to intensive care at 22 weeks’ GA to 82.1%, 90.1%, and 90.2% at 27 weeks’ GA, respectively. For the survivors, the rates of severe impairment decreased from 36.3% to 19.1% for 22 to 24 weeks’ GA and from 14.0% to 4.2% for 25 to 27 weeks’ GA. The mean chance of survival without impairment for infants born alive increased from 1.2% to 9.3% for 22 to 24 weeks’ GA and from 40.6% to 64.2% for 25 to 27 weeks’ GA.

LIMITATIONS:

The confidence in these estimates ranged from high to very low.

CONCLUSIONS:

Survival without impairment was substantially lower for children born at <25 weeks’ GA than for those born later.

Neurodevelopmental Impairments 1 Year After Cerebral Malaria

Vie, 01/02/2019 - 10:01
BACKGROUND AND OBJECTIVES:

Cerebral malaria (CM) causes significant mortality and morbidity in sub-Saharan African children. Reliable morbidity estimates are scarce because of methodological variability across studies. We describe the incidence, course, and severity of neurodevelopmental impairments in survivors of CM and the associated patient characteristics to inform epidemiologic estimates of malaria morbidity rates and prevention and treatment efforts.

METHODS:

We conducted an exposure-control study of 85 survivors of CM and 100 age-matched patients in a control group who were enrolled at hospital discharge and assessed after 1, 6, and 12 months using caregiver interviews and standardized developmental, cognitive, and behavioral measures.

RESULTS:

Developmental or cognitive impairment (<10th percentile of the control distribution) and/or new onset of caregiver-reported behavior problems occurred in 53% of case patients compared with 20% of the patients in the control group (odds ratio 4.5; 95% CI: 2.4 to 8.6; P < .001). In case patients, developmental or cognitive impairment at the 12-month assessment was associated with HIV-positive status and short stature at presentation, more prolonged fever and coma during admission, and severe atrophy or multifocal abnormalities being found on MRI at the 1-month assessment.

CONCLUSIONS:

One-half of survivors of CM were neurodevelopmentally impaired at the 1-year assessment. With these results, we support prevention trials of acute, neuroprotective interventions and the allocation of resources to evaluation, education, and rehabilitation efforts to reduce the significant long-term burden of CM-associated impairments on families and their communities.

Antibiotic Prescribing for Children in United States Emergency Departments: 2009-2014

Vie, 01/02/2019 - 10:01
OBJECTIVES:

To characterize and compare ambulatory antibiotic prescribing for children in US pediatric and nonpediatric emergency departments (EDs).

METHODS:

A cross-sectional retrospective study of patients aged 0 to 17 years discharged from EDs in the United States was conducted by using the 2009–2014 National Hospital Ambulatory Medical Care Survey ED data. We estimated the proportion of ED visits resulting in antibiotic prescriptions, stratified by antibiotic spectrum, class, diagnosis, and ED type ("pediatric" defined as >75% of visits by patients aged 0–17 years, versus "nonpediatric"). Multivariable logistic regression was used to determine factors independently associated with first-line, guideline-concordant prescribing for acute otitis media, pharyngitis, and sinusitis.

RESULTS:

In 2009–2014, of the 29 million mean annual ED visits by children, 14% (95% confidence interval [CI]: 10%–20%) occurred at pediatric EDs. Antibiotics overall were prescribed more frequently in nonpediatric than pediatric ED visits (24% vs 20%, P < .01). Antibiotic prescribing frequencies were stable over time. Of all antibiotics prescribed, 44% (95% CI: 42%–45%) were broad spectrum, and 32% (95% CI: 30%–34%, 2.1 million per year) were generally not indicated. Compared with pediatric EDs, nonpediatric EDs had a higher frequency of prescribing macrolides (18% vs 8%, P < .0001) and a lower frequency of first-line, guideline-concordant prescribing for the respiratory conditions studied (77% vs 87%, P < .001).

CONCLUSIONS:

Children are prescribed almost 7 million antibiotic prescriptions in EDs annually, primarily in nonpediatric EDs. Pediatric antibiotic stewardship efforts should expand to nonpediatric EDs nationwide, particularly regarding avoidance of antibiotic prescribing for conditions for which antibiotics are not indicated, reducing macrolide prescriptions, and increasing first-line, guideline-concordant prescribing.

Family Firearm Ownership and Firearm-Related Mortality Among Young Children: 1976-2016

Vie, 01/02/2019 - 10:01
BACKGROUND:

Firearm-related fatalities are a top 3 cause of death among children in the United States. Despite historical declines in firearm ownership, the firearm-related mortality rate among young children has risen over the past decade. In this study, we examined changes in firearm ownership among families with young children from 1976 to 2016, exploring how such changes relate to recent increases in firearm-related mortality among 1- to 5-year-olds.

METHODS:

Individual-level data from the National Vital Statistics System were merged with household-level data from the General Social Survey to create national-level estimates of firearm-related child mortality and family firearm ownership from 1976 to 2016 (n = 41 years). Vector autoregression models were used to examine the association between firearm ownership and child mortality.

RESULTS:

The proportion of non-Hispanic white families with young children who owned firearms declined from 50% in 1976 to 45% in 2016 and from 38% to 6% among non-Hispanic African American families. The proportion of white families with young children who owned handguns, however, increased from 25% to 32%; 72% of firearm-owning families with young children now own a handgun. Increases in handgun ownership partially explained the recent rise in firearm-related white child mortality (B = 0.426), net of economic conditions, and sociodemographic characteristics of firearm-owning families.

CONCLUSIONS:

Changes in the types of firearms in the homes of US families may partially explain recently rising firearm-related mortality among young white children. These findings hold relevance for pediatricians and policy makers aiming to reduce firearm-related mortality and promote firearm safety in children’s homes.

Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes

Vie, 01/02/2019 - 10:01
OBJECTIVES:

Increased intracranial pressure (ICP) has been suggested in legal settings as an alternative cause of retinal hemorrhages (RHs) in young children who may have sustained abusive head trauma. We assessed the prevalence and characteristics of RHs in children with increased ICP.

METHODS:

We conducted a prospective, multicenter study of children <4 years old with newly diagnosed increased ICP as determined by using direct measurement and/or clinical criteria. Infants who were premature, neonates, and suspected survivors of abusive head trauma were excluded on the basis of nonocular findings. Fundus examinations were performed; extent, number, and type of RH in each of 4 distinct retinal zones were recorded.

RESULTS:

Fifty-six children (27 boys) were studied (mean age 15.4 months; range 1–43 months). All of the children had elevated ICP that required intervention. One child had papilledema. No child (0%; 95% confidence interval: 0%–6.4%) or eye (0%; 95% confidence interval: 0%–3.3%) was found to have an RH. Causes of increased ICP included hydrocephalus, intraventricular hemorrhage, congenital malformations, malfunctioning shunts, and the presence of intracranial space-occupying lesions.

CONCLUSIONS:

Although acute increased ICP can present in children with a pattern of peripapillary superficial RHs in the presence of papilledema, our study supports the conclusion that RHs rarely occur in the absence of optic disc swelling and do not present beyond the peripapillary area in the entities we have studied.

Discussion of Potentially Sensitive Topics With Young People

Vie, 01/02/2019 - 10:01
OBJECTIVES:

To identify modifiable factors that facilitate discussion of potentially sensitive topics between health care providers and young people at preventive service visits after Patient Protection and Affordable Care Act implementation.

METHODS:

We used data from a national internet survey of adolescents and young adults (13–26 years old) in the United States. Questionnaire construction was guided by formative research and Fisher’s Information-Motivation-Behavioral Skills model. Those who had seen a regular health care provider in the past 2 years were asked about 11 specific topics recommended by national medical guidelines. Four multivariable regression models were used to identify independent predictors of discussions of (1) tobacco use, (2) drug and/or alcohol use, (3) sexually transmitted infections or HIV, and (4) the number of topics discussed.

RESULTS:

Fewer than half of young people reported having discussed 10 of 11 topics at their last visit. Predictors were similar across all 4 models. Factors independently associated with health discussions included the following: ever talked with a provider about confidentiality (4/4 models; adjusted odds ratio [aOR] = 1.85–2.00), ever had private time with a provider (1 model; aOR = 1.50), use of health checklist and/or screening questionnaire at last visit (4 models; aOR = 1.78–1.96), and time spent with provider during last visit (4 models). Number of years that young men had seen their regular provider was significant in 1 model. Other independent factors were positive youth attitudes about discussing specific topics (3/3 models) and youth involvement in specific health risk behaviors (3/3 models).

CONCLUSIONS:

Discussions about potentially sensitive topics between health care providers and young people are associated with modifiable factors of health care delivery, particularly provider explanations of confidentiality, use of screening and/or trigger questionnaires, and amount of time spent with their provider.

Development and Validation of a Cellulitis Risk Score: The Melbourne ASSET Score

Vie, 01/02/2019 - 10:01
BACKGROUND:

The evidence is unclear about the optimal route of treatment for children with cellulitis, specifically how to assess the risk of moderate-to-severe cellulitis requiring intravenous (IV) antibiotics. We aimed to derive and validate a cellulitis risk assessment scoring system to guide providers as to which patients require IV antibiotics.

METHODS:

This was a prospective cohort study of children presenting to the emergency department aged 6 months to 18 years diagnosed with cellulitis from January 2014 to August 2017. Patients were divided into 2 groups based on route of antibiotics at 24 hours (the predetermined gold standard). Demographics and clinical features were compared. Clinicians were surveyed about which features they used to decide whether to start IV antibiotics. Combinations of differentiating features were plotted on receiver operating characteristic curves.

RESULTS:

There were 285 children in the derivation cohort used to create the Melbourne Area, Systemic features, Swelling, Eye, Tenderness (ASSET) Score, which has a maximum score of 7. The area under the curve was 0.86 (95% confidence interval 0.83–0.91). Using a cutoff score of 4 to start IV antibiotics yielded the highest correct classification of 80% of patients (sensitivity 60%; specificity 93%). This score was validated in 251 children and maintained a robust area under the curve of 0.83 (95% confidence interval 0.78–0.89).

CONCLUSIONS:

The Melbourne ASSET Score was derived and validated for cellulitis in children to guide clinicians regarding when to start IV antibiotics. Although intended for widespread use, if limitations exist in other settings, it is designed to allow for refinement and is amenable to local impact analysis.

Perinatal Risk Factors and Outcome Coding in Clinical and Administrative Databases

Vie, 01/02/2019 - 10:01
BACKGROUND AND OBJECTIVES:

Administrative databases may allow true population-based studies and quality improvement endeavors, but the accuracy of billing codes for capturing key risk factors and outcomes needs to be assessed. We sought to describe the performance of a statewide administrative database and the clinical database from the California Perinatal Quality Care Collaborative (CPQCC).

METHODS:

This population-based retrospective cohort study linked key perinatal risk factors and outcomes from the 133-unit CPQCC database to relevant billing codes from administrative maternal and newborn inpatient discharge records, for 50 631 infants born from 2006 to 2012. Using the CPQCC record as the gold standard, we calculated the positive predictive value, negative predictive value, and Matthews correlation coefficient for each item, then evaluated comparative performance across units.

RESULTS:

The Matthews correlation coefficient was highest (>0.7; strong positive correlation) for multiple delivery, Cesarean delivery, very low birth weight, maternal hypertension, maternal diabetes, patent ductus arteriosus, in-hospital death, patent ductus arteriosus and retinopathy of prematurity surgeries, extracorporeal life support, and intraventricular hemorrhage. Maternal chorioamnionitis, fetal distress, retinopathy of prematurity staging, chronic lung disease, and pneumothorax were the least reliably coded. Maternal factors and delivery details were more reliably coded in the maternal inpatient record than the newborn inpatient record.

CONCLUSIONS:

Several important perinatal risk factors and outcomes are highly congruent between these administrative and clinical databases. Several subjective risk factors and outcomes are appropriate targets for data improvement initiatives. The ability for timely extraction of administrative inpatient data will be key to their usefulness in quality metrics.

Bifidobacterium Abundance in Early Infancy and Vaccine Response at 2 Years of Age

Vie, 01/02/2019 - 10:01
BACKGROUND:

The intestinal microbiome in early infancy affects immunologic development and thus may affect vaccine memory, though few prospective studies have examined such associations. We examined the association of Bifidobacterium levels in early infancy with memory responses to early vaccination measured at 2 years of age.

METHODS:

In this prospective observational study, we examined the association of Bifidobacterium abundance in the stool of healthy infants at 6 to 15 weeks of age, near the time of vaccination, with T-cell and antibody responses measured at 6 weeks, 15 weeks, and 2 years of age. Infants were vaccinated with Bacillus Calmette-Guérin (BCG) (at birth), oral polio virus (at birth and at 6, 10, and 14 weeks), tetanus toxoid (TT) (at 6, 10, and 14 weeks), and hepatitis B virus (at 6, 10, and 14 weeks). Fecal Bifidobacterium was measured at 6, 11, and 15 weeks. Bifidobacterium species and subspecies were measured at 6 weeks.

RESULTS:

Mean Bifidobacterium abundance in early infancy was positively associated with the CD4 T-cell responses to BCG, TT, and hepatitis B virus at 15 weeks, with CD4 responses to BCG and TT at 2 years, and with plasma TT-specific immunoglobulin G and stool polio-specific immunoglobulin A at 2 years. Similar associations were seen for the predominant subspecies, Bifidobacterium longum subspecies infantis.

CONCLUSIONS:

Bifidobacterium abundance in early infancy may increase protective efficacy of vaccines by enhancing immunologic memory. This hypothesis could be tested in clinical trials of interventions to optimize Bifidobacterium abundance in appropriate populations.

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure

Vie, 01/02/2019 - 10:01

Pediatric intractable autoimmune hepatitis is rare and may be responsible for acute liver failure. Mutations in the itchy E3 ubiquitin protein ligase (ITCH) gene (located on chromosome 20q11.22) can lead to a deficiency of the encoded protein, resulting in increased T-cell activity with lack of immune tolerance and manifestation of a complex systemic autoimmune disease. A 1-year-old girl of consanguineous parents received a liver transplant (LT) because of acute liver failure attributed to a drug-induced hypereosinophilic syndrome with positive liver-kidney-mikrosome-2 antibodies. Notable findings were syndromic features, dystrophy, short stature, psychomotor retardation, and muscular hypotonia. Later, we saw corticosteroid-sensitive rejections as well as a systemic autoimmune disease with detection of specific antibodies (de novo autoimmune hepatitis, thyroiditis with exophthalmos, diabetes mellitus type 1, and immune neutropenia). Histologically, liver cirrhosis with lobular inflammatory infiltrates, giant-cell hepatitis, and ductopenia was verified in chronic cholestasis. Shortly after a second LT, a comparable liver histology could be detected, and viral, bacterial, and mycotic infections deteriorated the general health condition. Because of refractory pancytopenia related to portal hypertension and hypersplenism, a posttransplant lymphoproliferative disorder was excluded. One year after the second LT, epidural and subdural bleeding occurred. Three months afterward, the girl died of sepsis. Postmortem, whole-exome sequencing revealed a homozygous mutation in the ITCH gene. A biallelic mutation in ITCH can cause a severe syndromic multisystem autoimmune disease with the above phenotypic characteristics and acute liver failure because of autoimmune hepatitis. This case reveals the importance of ubiquitin pathways for regulation of the immune system.

Methemoglobinemia in an Infant After Sclerotherapy With High-Dose Doxycycline

Vie, 01/02/2019 - 10:01

Methemoglobinemia occurs when the heme moiety of hemoglobin (Hb) is oxidized from the ferrous to ferric state, leading to impairments in oxygen transport and delivery. Methemoglobinemia is rare in pediatric patients but has been described in the setting of congenital abnormalities in the Hb structure, inherited enzyme deficiencies, oxidative Hb injury in response to illness, and oxidative Hb injury due to toxicants. We present a 1-week-old infant born with a cervical lymphangioma who developed persistent desaturations that were unresponsive to oxygen after sclerotherapy with doxycycline. Arterial blood gas revealed a high Pao2 despite low saturations being found on pulse oximetry and a methemoglobin level that was found to be elevated. Further sclerotherapy was discontinued, the saturations eventually normalized, and the methemoglobin level decreased. This is a novel report of sclerotherapy with doxycycline associated with the development of methemoglobinemia.

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