Search

Infants who die within the first weeks to months of life may have genetic disorders, though many die without a confirmed diagnosis. Non-genetic conditions may also be responsible for unexplained infant deaths, and the diagnosis may be reliant upon studies performed in the peri-mortem period. Neonatologists, obstetricians, or pediatricians caring for these children and their families may be unsure of which investigations can and should be performed in the setting of a newborn or infant who is dying or has died. Recent advances in genomic sequencing technology may provide additional diagnostic options, though the interpretation of genetic variants discovered by this technique may be contingent upon clinical phenotype information that is obtained peri-mortem or upon autopsy. We have reviewed the current literature concerning the evaluation of an unexplained neonatal or infantile demise and synthesized a diagnostic approach, with a focus on the contribution of new and emerging genomic technologies.

OBJECTIVES Studies in adult patients have shown that do-not-resuscitate orders are often associated with decreased medical intervention. In neonatology, this phenomenon has not been investigated, and how do-not-resuscitate orders potentially affect clinical care is unknown. DESIGN Retrospective medical record data review and staff survey responses about neonatal ICU do-not-resuscitate orders. SETTING Four academic neonatal ICUs. SUBJECTS Clinical staff members working in each neonatal ICU. INTERVENTIONS Survey response collection and analysis. MEASUREMENTS AND MAIN RESULTS Participating neonatal ICUs had 14-48 beds and 120-870 admissions/yr. Frequency range of do-not-resuscitate orders was 3-11 per year. Two-hundred fifty-seven surveys were completed (46% response). Fifty-nine percent of respondents were nurses; 20% were physicians. Over the 5-year period, 44% and 17% had discussed a do-not-resuscitate order one to five times and greater than or equal to 6 times, respectively. Fifty-seven percent and 22% had cared for one to five and greater than or equal to 6 patients with do-not-resuscitate orders, respectively. Neonatologists, trainees, and nurse practitioners were more likely to report receiving training in discussing do-not-resuscitate orders or caring for such patients compared with registered nurses and respiratory therapists (p < 0.001). Forty-one percent of respondents reported caring for an infant in whom interventions had been withheld after a do-not-resuscitate order had been placed without discussing the specific withholding with the family. Twenty-seven percent had taken care of an infant in whom interventions had been withdrawn under the same circumstances. Participants with previous experiences withholding or withdrawing interventions were more likely to agree that these actions are appropriate (p < 0.001). CONCLUSIONS Most neonatal ICU staff report experience with do-not-resuscitate orders; however, many, particularly nurses and respiratory therapists, report no training in this area. Variable beliefs with respect to withholding and withdrawing care for patients with do-not-resuscitate orders exist among staff. Because neonatal ICU patients with do-not-resuscitate orders may ultimately survive, withholding or withdrawing interventions may have long-lasting effects, which may or may not coincide with familial intentions.

Transient myeloproliferative disorder (TMD), also known as transient acute myelopoiesis, is a myeloproliferative condition that occurs in the perinatal period in up to 10% of patients who have Down syndrome. Because of the perinatal presentation of this disorder, neonatal clinicians should be familiar with its clinical presentation, management, and outcomes. Affected patients develop severe myeloproliferation of megakaryocytic precursor cells, leading initially to hepatosplenomegaly and liver dysfunction. If the disorder develops prenatally, affected fetuses may also develop hydrops. The disorder requires the presence of 2 genetic abnormalities: trisomy of the gene ERG, located on chromosome 21, and a mutation of the GATA1 gene. The disease typically regresses spontaneously if the patient receives supportive care through the acute illness, although overall mortality of TMD is about 20%.

Subxiphoid chest ultrasonography is performed in an infant with respiratory distress. See video below to review. Video. Click here to view the video. Of the following chest radiographs shown on the next page, the most likely chest radiograph in this infant is: 1. 2. 3. 4. Correct Response: Radiograph C. The focused subxiphoid chest ultrasonogram of this infant was obtained in the transverse plane to assess for diaphragmatic movement. The video shows decreased excursion of the left hemidiaphragm during both inspiration and expiration (still image shown in the Figure). The right hemidiaphragm has normal movements. There is no evidence of a pleural effusion or extrapleural air. These ultrasonographic findings are most consistent with a left diaphragmatic paresis. Figure. Still image of subxiphoid chest ultrasonography in a neonate with respiratory distress. The left diaphragm remains flaccid throughout the breathing cycle. Radiograph C is the most likely chest radiograph of the infant in the video. This image shows an elevated left hemidiaphragm, corresponding to a unilateral left diaphragmatic paresis. The lateral decubitus view in Radiograph A shows a left pleural effusion that layers out when the infant …

Blood is one of the most important specimens sent to a microbiology laboratory for culture. Most blood cultures are incubated for 5-7 days, except in cases where there is a suspicion of infection caused by microorganisms that proliferate slowly, or infections expressed by a small number of bacteria in the bloodstream. Therefore, at the end of incubation, misidentification of positive cultures and false-negative results are a real possibility. The aim of this work was to perform a confirmation by Gram staining of the lack of any microorganisms in blood cultures that were identified as negative by the BACTEC™ FX system at the end of incubation. All bottles defined as negative by the BACTEC FX system were Gram-stained using an automatic device and inoculated on solid growth media. In our work, 15 cultures that were defined as negative by the BACTEC FX system at the end of the incubation were found to contain microorganisms when Gram-stained. The main characteristic of most bacteria and fungi growing in the culture bottles that were defined as negative was slow growth. This finding raises a problematic issue concerning the need to perform Gram staining of all blood cultures, which could overload the routine laboratory work, especially laboratories serving large medical centers and receiving a large number of blood cultures.

Frame-of-reference (FOR) training has been used successfully to teach faculty how to produce accurate and reliable workplace-based ratings when assessing a performance. We engaged 21 Harvard Medical School faculty members in our pilot and implementation studies to determine the effectiveness of using FOR training to assess health professionals' teaching performances.All faculty were novices at rating their peers' teaching effectiveness. Before FOR training, we asked participants to evaluate a recorded lecture using a criterion-based peer assessment of medical lecturing instrument. At the start of training, we discussed the instrument and emphasized its precise behavioral standards. During training, participants practiced rating lectures and received immediate feedback on how well they categorized and scored performances as compared with expert-derived scores of the same lectures. At the conclusion of the training, we asked participants to rate a post-training recorded lecture to determine agreement with the experts' scores.Participants and experts had greater rating agreement for the post-training lecture compared with the pretraining lecture. Through this investigation, we determined that FOR training is a feasible method to teach faculty how to accurately and reliably assess medical lectures.Medical school instructors and continuing education presenters should have the opportunity to be observed and receive feedback from trained peer observers. Our results show that it is possible to use FOR rater training to teach peer observers how to accurately rate medical lectures. The process is time efficient and offers the prospect for assessment and feedback beyond traditional learner evaluation of instruction.

The physiology of the fetus is fundamentally different from the neonate, with both structural and functional distinctions. The fetus is well-adapted to the relatively hypoxemic intrauterine environment. The transition from intrauterine to extrauterine life requires rapid, complex, and well-orchestrated steps to ensure neonatal survival. This article explains the intrauterine physiology that allows the fetus to survive and then reviews the physiologic changes that occur during the transition to extrauterine life. Asphyxia fundamentally alters the physiology of transition and necessitates a thoughtful approach in the management of affected neonates.