Evaluating the Impact of an Adolescent Sexuality Education Workshop on Medical Student Communication in an Objective Structured Clinical Examination.

PURPOSE: Gaps still exist in medical education about the sexual health needs of sexual diverse populations, and little is known about how translatable current learning modules are to patient encounters. Efforts at an academic medical institution have been made to address this need, including a two-hour adolescent sexuality workshop during the Core Clerkship in Pediatrics. This workshop's efficacy was evaluated in an objective structured clinical examination (OSCE) given to rising fourth-year medical students, where the standardized patient case focused on an adolescent cisgender male with dysuria and in a new, same-sex relationship. METHODS: Performance of students who completed the workshop prior to the OSCE (n = 48) were compared to those of students who did not participate in the workshop prior to the OSCE (n = 17). The encounters were recorded and transcribed, and the deidentified transcripts were scored on a rubric focusing on five domains: sexual identity disclosure, behavioral assessment, psychosocial history, counseling and anticipatory guidance, and relationship building. RESULTS: Student's t-test comparison of the scores found significantly higher scores for the psychosocial history domain (p = .04), particularly concerning disclosure of a new boyfriend and recent sexual activity (p = .008), for students who had the workshop before the OSCE. DISCUSSION: Students who took the adolescent sexuality workshop performed better in gathering psychosocial information in an OSCE encounter a sexual minority adolescent. These results affirm prior work that active learning on sexual diverse health in medical school curricula may prepare students for effective engagement with adolescents exploring their sexuality.

Automatic Rejection based on Tissue Signal (ARTS) for motion-corrected quantification of cerebral venous oxygenation in neonates and older adults.

OBJECTIVE: Cerebral venous oxygenation (Yv) is a key parameter for the brain's oxygen utilization and has been suggested to be a valuable biomarker in various brain diseases including hypoxic ischemic encephalopathy in neonates and Alzheimer's disease in older adults. T2-Relaxation-Under-Spin-Tagging (TRUST) MRI is a widely used technique to measure global Yv level and has been validated against gold-standard PET. However, subject motion during TRUST MRI scan can introduce considerable errors in Yv quantification, especially for noncompliant subjects. The aim of this study was to develop an Automatic Rejection based on Tissue Signal (ARTS) algorithm for automatic detection and exclusion of motion-contaminated images to improve the precision of Yv quantification. METHODS: TRUST MRI data were collected from a neonatal cohort (N = 37, 16 females, gestational age = 39.12 ± 1.11 weeks, postnatal age = 1.89 ± 0.74 days) and an older adult cohort (N = 223, 134 females, age = 68.02 ± 9.01 years). Manual identification of motion-corrupted images was conducted for both cohorts to serve as a gold-standard. 9.3% of the images in the neonatal datasets and 0.4% of the images in the older adult datasets were manually identified as motion-contaminated. The ARTS algorithm was trained using the neonatal datasets. TRUST Yv values, as well as the estimation uncertainty (ΔR2) and test-retest coefficient-of-variation (CoV) of Yv, were calculated with and without ARTS motion exclusion. The ARTS algorithm was tested on datasets of older adults: first on the original adult datasets with little motion, and then on simulated adult datasets where the percentage of motion-corrupted images matched that of the neonatal datasets. RESULTS: In the neonatal datasets, the ARTS algorithm exhibited a sensitivity of 0.95 and a specificity of 0.97 in detecting motion-contaminated images. Compared to no motion exclusion, ARTS significantly reduced the ΔR2 (median = 3.68 Hz vs. 4.89 Hz, P = 0.0002) and CoV (median = 2.57% vs. 6.87%, P = 0.0005) of Yv measurements. In the original older adult datasets, the sensitivity and specificity of ARTS were 0.70 and 1.00, respectively. In the simulated adult datasets, ARTS demonstrated a sensitivity of 0.91 and a specificity of 1.00. Additionally, ARTS significantly reduced the ΔR2 compared to no motion exclusion (median = 2.15 Hz vs. 3.54 Hz, P < 0.0001). CONCLUSION: ARTS can improve the reliability of Yv estimation in noncompliant subjects, which may enhance the utility of Yv as a biomarker for brain diseases.

Infant feeding for people living with HIV in high resource settings: a multi-disciplinary approach with best practices to maximise risk reduction.

Shared decision making for infant feeding in the context of HIV in high-resourced settings is necessary to acknowledge patient autonomy, meet increasing patient requests and address the changing reality of perinatal HIV care. In low-to middle-income countries (LMIC), where the majority of individuals living with HIV reside, persons with HIV are recommended to breastfeed their infants. In the setting of maternal anti-retroviral therapy (ART) use throughout pregnancy, viral suppression and appropriate neonatal post-exposure prophylaxis (PEP) use, updated information indicates that the risk of HIV transmission through breastmilk may be between 0.3 and 1%. While not endorsing or recommending breastfeeding, the United States' DHHS perinatal guidelines are similarly pivoting, stating that individuals should "receive patient-centred, evidence-based counselling on infant feeding options." Similar statements appear in the British, Canadian, Swiss, European, and Australasian perinatal guidelines. We assembled a multi-disciplinary group at our institution to develop a structured shared decision-making process and protocol for successful implementation of breastfeeding. We recommend early and frequent counselling about infant feeding options, which should include well known benefits of breastfeeding even in the context of HIV and the individual's medical and psychosocial circumstances, with respect and support for patient's autonomy in choosing their infant feeding option.

Bronchiolitis Simulation Module in the Pediatric Preclerkship Educational Exercises (PRECEDE) Curriculum.

Introduction: Acute bronchiolitis is a viral infection infecting 90% of children under the age of 2 years, with approximately 200,000 deaths per year. The current standard of care remains largely respiratory support and prevention. Therefore, understanding how to assess and escalate respiratory supportive care is paramount for health care providers taking care of children. Methods: We used a high-fidelity simulator to simulate an infant with progressing respiratory distress in the setting of acute bronchiolitis. The participants were pediatric clerkship medical students during their preclerkship educational exercises (PRECEDE). The students were asked to evaluate and treat the simulated patient. After debriefing, the students repeated the simulation. We assessed both performances via a weighted checklist specifically developed for this case to measure team performance. Students also completed an overall course evaluation. Results: Ninety out of 121 pediatric clerkship students were enrolled. Performance improved from 57% to 86% ( p < .05). Donning appropriate personal protection equipment was the most missed item both pre- and postdebriefing. Overall, the course was well liked and received. Participants requested more simulation opportunities within PRECEDE as well as a summary document to reinforce learning. Discussion: Pediatric clerkship students improved their performance managing progressing respiratory distress due to acute bronchiolitis via a performance-based assessment tool with sound validity evidence. Improvements going forward include improving faculty diversity and offering more simulation opportunities.

Variation in Newborn Skincare Policies Across United States Maternity Hospitals.

OBJECTIVE: Newborn skincare influences levels of beneficial factors from vernix and vaginal secretions but also the emergence of potential skin pathogens. However, evidence-based national guidelines for newborn skincare do not exist, and actual hospital practices for newborn skincare have not been described. In this study, we test the hypothesis that US maternity hospitals follow differing policies with regard to newborn skincare. METHODS: A 16-question survey querying skin care practices was distributed to nursery medical directors at the 109 US hospital members of the Better Outcomes through Research for Newborns network. Data from free text responses were coded by 2 study personnel. Survey responses were analyzed by using descriptive statistics and compared by region of the United States. RESULTS: Delaying the first newborn bath by at least 6 hours is a practice followed by 87% of US hospitals surveyed. Discharging newborns without a bath was reported in 10% of hospitals and was more common for newborns born in nonacademic centers and on the West Coast. Procedures and products used for newborn skincare varied significantly. Parental education on tub immersion and soap use was also inconsistent and potentially contradictory between providers. Evidence cited by hospitals in forming their policies is scant. CONCLUSION: In this study, we identify similar and strikingly different newborn skincare policies across a national network of US maternity hospitals. Research is needed to identify effects of differing skincare routines on skin integrity, infection rates, and childhood health outcomes to improve the evidence base for the care of newborn skin.

Expectations of and for Clerkship Directors 2.0: A Collaborative Statement from the Alliance for Clinical Education.

This article presents an update of the collaborative statement on clerkship directors (CDs), first published in 2003, from the national undergraduate medical education organizations that comprise the Alliance for Clinical Education (ACE). The clerkship director remains an essential leader in the education of medical students on core clinical rotations, and the role of the CD has and continues to evolve. The selection of a CD should be an explicit contract between the CD, their department, and the medical school, with each party fulfilling their obligations to ensure the success of the students, the clerkship and of the CD. Educational innovations and accreditation requirements have evolved in the last two decades and therefore this article updates the 2003 standards for what is expected of a CD and provides guidelines for the resources and support to be provided.In their roles as CDs, medical student educators engage in several critical activities: administration, education/teaching, coaching, advising, and mentoring, faculty development, compliance with accreditation standards, and scholarly activity. This article describes (a) the work products that are the primary responsibility of the CD; (b) the qualifications for the CD; (c) the support structure, resources, and personnel that are necessary for the CD to accomplish their responsibilities; (d) incentives and career development for the CD; and (e) the dedicated time that should be provided for the clerkship and the CD to succeed. Given all that should rightfully be expected of a CD, a minimum of 50% of a full-time equivalent is recognized as appropriate. The complexity and needs of the clerkship now require that at least one full-time clerkship administrator (CA) be a part of the CD's team.To better reflect the current circumstances, ACE has updated its recommendations for institutions and departments to have clear standards for what is expected of the director of a clinical clerkship and have correspondingly clear guidelines as to what should be expected for CDs in the support they are provided. This work has been endorsed by each of the eight ACE member organizations.

Coronavirus Disease 2019 in Pregnancy and Outcomes Among Pregnant Women and Neonates: A Literature Review.

Limited data are available about the outcomes of coronavirus disease 2019 (COVID-19) during pregnancy and risk of vertical transmission in exposed neonates. We reviewed studies published February 1, 2020, through August 15, 2020, on outcomes in pregnant women with COVID-19 and neonates with perinatal exposure. Among pregnant women with COVID-19, 181 (11%) required intensive care unit admission and 123 (8%) required mechanical ventilation. There were 22 maternal deaths. Most infections occurred in the third trimester. Among women who delivered, 28% had a preterm birth, and 57% had a Caesarean section. Sixty-one (4%) of 1222 neonates with reported testing had at least 1 positive severe acute respiratory syndrome coronavirus 2 polymerase chain reaction test. The most common symptom among neonates was respiratory distress (n = 126; 21%). There were 14 neonatal deaths, one of which occurred in a neonate with positive testing. Further study of COVID-19 in pregnant women and neonates, including standardized reporting of outcomes, testing and treatment protocols, is essential to optimize maternal and neonatal care.

Phone It In: A Medical Student Primer on Telemedicine Consultation in Pediatrics.

Introduction: Telephone triage requires a unique skillset that is not universally taught in medical school. This curriculum was developed to introduce third- and fourth-year medical students participating in their pediatrics core clerkship to the benefits, challenges, and mechanics of telephone triage. Methods: After completing a presession textbook reading and listening to a brief lecture, students participated in two telephone role-play scenarios with parents. The exercise required students to recognize the differences in acuity level of patients and provide appropriate guidance, management, and disposition instructions. Following the session, students completed a telephone note. Students evaluated this curriculum at the completion of the clerkship. Results: The majority of the 74 students who completed the 5-point Likert scale evaluation felt that the curriculum met its stated objectives (a score of 4 or 5 given by 82%), increased their knowledge (73%), engaged them (86%), and was of high quality (82%). Students specifically commented that the experience was useful, interactive, and applicable to their clerkship experience and future career. The most common area of constructive feedback was not understanding the purpose of a telephone note. Discussion: This easily implemented curriculum provided a foundational experience in the nuances of triaging and managing pediatric patients via the telephone. This serves as an important framework to prepare students for more complex telemedicine technology.

Community-Onset Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Young Infants: A Systematic Review.

OBJECTIVE: To summarize and evaluate current reports on community-onset severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in young infants. STUDY DESIGN: We performed a systematic review to identify reports published from November 1, 2019, until June 15, 2020, on laboratory-confirmed community-onset SARS-CoV-2 infection in infants younger than 3 months of age. We excluded studies reporting neonates with perinatal coronavirus disease 2019 (COVID-19) exposure and diagnosis before hospital discharge and hospital-onset disease, as well as clinically diagnosed cases without confirmation. Two independent reviewers performed study screening, data abstraction, and risk of bias assessment. Variables of interest included patient age, exposure to COVID-19, medical history, clinical symptoms, SARS-CoV-2 testing, laboratory findings, clinical course, and disposition. RESULTS: In total, 38 publications met inclusion criteria, including 23 single case reports, 14 case series, and 1 cohort study, describing 63 infants younger than 3 months of age with laboratory-confirmed SARS-CoV-2 infection. Most cases were mild to moderate. Fever, respiratory, gastrointestinal, cardiac, and neurologic findings were reported. Laboratory abnormalities included neutropenia, lymphopenia, and elevated serum levels of inflammatory markers and aminotransferases. Fifty-eight (92%) infants were hospitalized, 13 (21%) were admitted to the intensive care unit, and 2 (3%) required mechanical ventilation. No death was reported. CONCLUSIONS: Among young infants with laboratory-confirmed SARS-CoV-2 infection, most cases were mild to moderate and improved with supportive care. Our results demonstrate a need for a high index of suspicion for SARS-CoV-2 infection in young infants presenting with generalized symptoms such as fever or decreased feeding, even in the absence of respiratory symptoms.

Improving Medical Students' OSCE Performance in Telehealth: The Effects of a Telephone Medicine Curriculum.

PURPOSE: To report on the implementation of a telephone medicine curriculum as part of the core clerkship in pediatrics for students at Johns Hopkins University School of Medicine and evaluate the curriculum's effect on student performance on a telephone medicine case as part of a required objective structured clinical exam (OSCE). METHOD: Using a prospective cohort design with a convenience sample of third-year medical students during the 2016-2017 and 2017-2018 academic years, the authors compared the OSCE scores of students assigned to the curriculum with both historical and concurrent control groups of students who had not received the curriculum. Additionally, the authors compared the costs of the recommended testing by students in each group using the 2018 Centers for Medicare and Medicaid Services Clinical Laboratory Fee Schedule. RESULTS: Students assigned to the telephone medicine curriculum (students in the intervention group) had a significantly higher mean overall score on the simulated OSCE telephone medicine case compared with the students in the control groups who did not receive the curriculum (the mean score for students in the intervention group was 7.38 vs 6.92 for students in the control groups, P = .02). Additionally, the intervention group had statistically significantly lower costs for their recommended testing compared with the control groups (the median value for tests ordered by students in the intervention group was $27.91 vs $51.23 for students in the control groups, P = .03). CONCLUSIONS: Implementing a dedicated telephone medicine curriculum for medical students improves their overall performance and delivery of high-value care via telephone medicine as part of an OSCE. Medical educators should pursue ongoing research into effective methods for teaching medical students and residents how to navigate digital encounters.

Otitis Media Module in the Pediatric Preclerkship Educational Exercises (PRECEDE) Curriculum.

Introduction: The Johns Hopkins Pediatrics Clerkship developed the PRECEDE (preclerkship educational exercises) curriculum with the primary goal of offering students formative instruction in essential pediatric clinical skills to prepare them for their clerkship. PRECEDE sessions occur at the beginning of each basic clerkship for new clinical clerkship students. The otitis media module is one in a series of modules presented in the curriculum and consists of a lecture and four short skills-development stations, each with a faculty facilitator. Methods: This 2-hour module began with a 1-hour didactic overview of otitis media. Medical students were divided into three groups. One group learned about writing prescriptions via two otitis media clinical vignettes. Another group explored visualization and diagnosis of otitis media via video. The last student group was subdivided and learned proper techniques for positioning and restraining pediatric patients during otoscopic exams and the psychomotor skills for performing otoscopic examinations, including pneumatic otoscopy. Student groups rotated through all four activity stations. Students were guided through discussion to develop interpretation, diagnostic, and treatment skills for acute otitis media. Results: Between 2010 and 2012, 254 third- and fourth-year medical students participated in this module. When asked to evaluate overall quality, 86% of learners rated the module as excellent, and 14% rated it as good. Discussion: By establishing these important skills, students may be better equipped to develop appropriate otitis media assessments, diagnoses, and care plans for patients and to use otitis media as a platform for broad education in other essential pediatric skills.

A Novel Mobile Health Tool for Home-Based Identification of Neonatal Illness in Uganda: Formative Usability Study.

BACKGROUND: While early identification of neonatal illness can impact neonatal mortality rates and reduce the burden of treatment, identifying subtle clinical signs and symptoms of possible severe illness is especially challenging in neonates. The World Health Organization and the United Nations Children's Fund developed the Integrated Management of Neonatal Childhood Illness guidelines, an evidence-based tool highlighting seven danger signs to assess neonatal health. Currently, many mothers in low-resource settings rely on home visits from community health workers (CHWs) to determine if their baby is sick. However, CHWs visit infrequently, and illness is often detected too late to impact survival. Thus, delays in illness identification pose a significant barrier to providing expedient and effective care. Neonatal Monitoring (NeMo), a novel neonatal assessment tool, seeks to increase the frequency of neonatal screening by task-shifting identification of neonatal danger signs from CHWs to mothers. OBJECTIVE: This study aimed to explore the usability and acceptability of the NeMo system among target users and volunteer CHWs by assessing ease of use and learnability. METHODS: Simulated device use and semistructured interviews were conducted with 32 women in the Iganga-Mayuge districts in eastern Uganda to evaluate the usability of the NeMo system, which involves a smartphone app paired with a low cost, wearable band to aid in identification of neonatal illness. Two versions of the app were evaluated using a mixed methods approach, and version II of the app contained modifications based on observations of the first cohort's use of the system. During the posed scenario simulations, participants were offered limited guidance from the study team in order to probe the intuitiveness of the NeMo system. The ability to complete a set of tasks with the system was tested and recorded for each participant and closed- and open-ended questions were used to elicit user feedback. Additionally, focus groups with 12 CHWs were conducted to lend additional context and insight to the usability and feasibility assessment. RESULTS: A total of 13/22 subjects (59%) using app version I and 9/10 subjects (90%) using app version II were able to use the phone and app with no difficulty, despite varying levels of smartphone experience. Following modifications to the app's audio instructions in version II, participants' ability to accurately answer qualitative questions concerning neonatal danger signs improved by at least 200% for each qualitative danger sign. All participants agreed they would trust and use the NeMo system to assess the health of their babies. Furthermore, CHWs emphasized the importance of community sensitization towards the system to encourage its adoption and regular use, as well as the decision to seek care based on its recommendations. CONCLUSIONS: The NeMo system is an intuitive platform for neonatal assessment in a home setting and was found to be acceptable to women in rural Uganda.

Characterization of MRI techniques to assess neonatal brain oxygenation and blood flow.

There is increasing interest in applying physiological MRI in neonates, based on the premise that physiological parameters may provide an early biomarker of neonatal brain health and injury. Two commonly used techniques are oxygen extraction fraction (OEF) measurement using T2 -relaxation-under-spin-tagging (TRUST) MRI and cerebral blood flow measurement using phase-contrast (PC) quantitative flow MRI, which collectively provide an assessment of the brain's oxygen consumption. However, prior research has only demonstrated proof of principle of these methods in neonates, without characterization or benchmarking of the techniques. This is because available time is limited in neonatal subjects, especially when scans are performed as add-ons to clinical scans (typically less than 5 min). The work presented aims to examine the TRUST and PC MRI sequences systematically in normal neonates, through research-dedicated scan sessions. A series of characterization and optimization studies were conducted in a total of 26 radiographically normal neonates on 3 T systems. Our results show that TRUST MRI at the superior sagittal sinus (SSS) provides an OEF measurement equivalent to that at the internal jugular vein (r = 0.80, n = 10), yet with shorter scan time. Lower resolution provided better precision in the TRUST measurement (p = 0.001, n = 9). Therefore, the preferred OEF measurement is to apply TRUST MRI at the SSS using a spatial resolution of 2.5 mm. For PC MRI, our results showed that non-gated PC MRI yielded blood flow measurements comparable to those from the more time-consuming gated approach in neonates (r = 0.89, n = 7). It was also found that blood flow could be overestimated by 18% when imaging resolution is larger than 0.3 mm (n = 7). Therefore, non-gated PC MRI with a spatial resolution of 0.3 mm is recommended for neonatal applications. In conclusion, this study verifies consistency of neonatal brain oxygenation and flow measurements across acquisition schemes and points to optimal strategies in parameter selection when using these sequences.

Vessel-specific quantification of neonatal cerebral venous oxygenation.

PURPOSE: Noninvasive measurement of cerebral venous oxygenation (Yv ) in neonates is important in the assessment of brain oxygen extraction and consumption, and may be useful in characterizing brain development and neonatal brain diseases. This study aims to develop a rapid method for vessel-specific measurement of Yv in neonates. METHODS: We developed a pulse sequence, named accelerated T2 -relaxation-under-phase-contrast (aTRUPC), which consists of velocity-encoding phase-contrast module to isolate pure blood signal, flow-insensitive T2 -preparation to quantify blood T2 , and turbo-field-echo (TFE) scheme for rapid image acquisition, which is critical for neonatal MRI. A series of studies were conducted. First, the pulse sequence was optimized in terms of TFE factor, velocity encoding (VENC), and slice thickness for best sensitivity. Second, to account for the influence of TFE acquisition on T2 quantification, simulation and experiments were conducted to establish the relationship between TFE-T2 and standard T2 . Finally, the complete aTRUPC sequence was applied on a group of healthy neonates and normative Yv values were determined. RESULTS: Optimal parameters of aTRUPC in neonates were found to be a TFE factor of 15, VENC of 5 cm/s, and slice thickness of 10 mm. The TFE-T2 was on average 3.9% lower than standard T2 . These two measures were strongly correlated (R2 = 0.86); thus their difference can be accounted for by a correction equation, T2,standard = 1.2002 × T2,TFE - 10.6276. Neonatal Yv values in veins draining cortical brain and those draining central brain were 64.8 ± 2.9% and 70.2 ± 3.3%, respectively, with a significant difference (P =.02). CONCLUSION: The aTRUPC MRI has the potential to provide vessel-specific quantification of cerebral Yv in neonates.

Evaluating congenital syphilis in a reverse sequence testing environment.

OBJECTIVES: To examine the effect of maternal reverse-sequence (RS) syphilis screening on management of infants at risk for congenital syphilis (CS) using a standardized approach. STUDY DESIGN: A retrospective study from 2011 to 2014 at an academic medical center using RS testing, involving chemiluminescent immunoassay (CIA), rapid plasma  reagin (RPR), and fluorescent treponemal antibody-absorption (FTA-ABS) assays for syphilis. Clinical management and outcomes of infants born to mothers with discordant (CIA+/RPR-/FTA+) serology were compared with national or internal guidelines. RESULTS: Sixty-three infants were classified as discordant (n = 21), presumed false positive (CIA+/RPR-/FTA-; n = 16), or true positive (CIA+/RPR+; n = 26) based on maternal serology. Only 24% of cases in the discordant group underwent recommended full evaluation. None of the evaluated infants in the discordant group (n = 8) were diagnosed with CS. CONCLUSIONS: Management of infants with discordant maternal RS serology remained reliant on clinical judgment. In our high-risk population, RS testing did not identify additional cases of CS.

Simulation of a Spontaneous Vaginal Delivery and Neonatal Resuscitation in a Biocontainment Unit.

This article describes a large-scale scenario designed to test the capabilities of a US biocontainment unit to manage a pregnant woman infected with a high-consequence pathogen, and to care for a newborn following labor and spontaneous vaginal delivery. We created and executed a multidisciplinary functional exercise with simulation to test the ability of the Johns Hopkins Hospital biocontainment unit (BCU) to manage a pregnant patient in labor with an unknown respiratory illness and to deliver and stabilize her neonate. The BCU Exercise and Drill Committee established drill objectives and executed the exercise in partnership with the Johns Hopkins Simulation Center in accordance with Homeland Security and Exercise Program guidelines. Exercise objectives were assessed by after-action reporting and objective measurements to detect contamination, using a fluorescent marker to simulate biohazardous fluids that would be encountered in a typical labor scenario. The immediate objectives of the drill were accomplished, with stabilization of the mother and successful delivery and resuscitation of her newborn. There was no evidence of contamination when drill participants were inspected under ultraviolet light at the end of the exercise. Simulation optimizes teamwork, communication, and safety, which are integral to the multidisciplinary care of the maternal-fetal unit infected, or at risk of infection, with a high-consequence pathogen. Lessons learned from this drill regarding patient transportation, safety, and obstetric and neonatal considerations will inform future exercises and protocols and will assist other centers in preparing to care for pregnant patients under containment conditions.

Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency.

BACKGROUND: Deleterious mutations in cytosolic leucine-tRNA synthetase (LARS) cause infantile liver failure syndrome, type 1 (ILFS1), a recently recognized, rare autosomal recessive disorder (OMIM151350). Only six families with ILFS1 have been reported in the literature. Patients with ILFS1 are typically diagnosed between 5 and 24 months of age with failure to thrive, developmental delays, encephalopathy, microcytic anemia, and chronic liver dysfunction with recurrent exacerbations following childhood illnesses. Neonatal manifestations of this disorder have not been well documented. CASE REPORT: We report a premature female newborn with intrauterine growth restriction, failure to thrive, congenital anemia, anasarca, and fulminant liver failure leading to lethal multiple organ failure. Liver failure in this infant was characterized by a disproportionate impairment of liver synthetic function, including severe coagulopathy and hypoalbuminemia without significant defects in liver detoxification or evidence of hepatocellular injury during early phase of the disease. Whole-exome sequencing of child-parent trio identified two inherited missense mutations in LARS in this patient. One, c.1292T>A; p.Val431Asp, has been reported in patients with ILFS1, while the other, c.725C>T; p.Pro242Leu, is novel. Both mutations involve amino acid residues in the highly conserved editing domain of LARS, are predicted to be functionally deleterious, and presumably contribute to the clinical manifestations in this patient. CONCLUSION: This is the first case documenting neonatal manifestation of ILFS1, highlighting early, severe, and disproportionate defects in liver synthetic function. Timely diagnosis of ILFS1 is crucial to guide critical clinical management and improve outcomes of this rare and potentially life-threatening disorder.

Persistent Extreme Hyperextension of the Fetal Neck: Clinical and Neuroimaging Findings.

BACKGROUND AND PURPOSE: Persistent hyperextension of the fetal craniocervical junction or neck is one of several fetal positions commonly observed on prenatal imaging. Underlying fetal structural etiologies such as fetal neck masses and iniencephaly can be detected as causes of hyperextension. Caesarean delivery is considered in cases of vaginal delivery or obstructed labor for fear of cervical spinal cord injury. In this case series, we describe the prenatal magnetic resonance imaging (MRI) findings and their potential role in obstetric management and discuss postnatal outcomes in fetuses demonstrating prenatal imaging findings of persistent extreme hyperextension of the neck. METHODS: A retrospective cohort of fetuses with extreme fetal neck hyperextension on prenatal ultrasound and subsequent MRI is described. RESULTS: Persistent extreme neck hyperextension was demonstrated in four pregnancies. One patient showed resolution of head positioning prior to labor. In the other 3 patients, neck hyperextension persisted until labor. In these three pregnancies, caesarean section with early intubation was performed due to concern for airway compromise and cervical cord injury. An underlying structural neck abnormality with airway compromise was noted only in 1 patient (large venolymphatic malformation). No airway compromise, cervical spine, or spinal cord anomaly was identified in the remaining 3 patients. Noncervical fetal anomalies were detected only in 1 patient (arthogryposis multiplex and clubfoot deformities). In patients with no structural neck abnormality, early extubation was performed shortly following labor. CONCLUSIONS: Detailed, high-resolution fetal MRI may serve as a valuable secondary imaging modality for clinical decision making regarding management of pregnancy, in utero therapy, mode of delivery, and postnatal care.