Progressive osseous heteroplasia in the face of a child

We describe a rare case of progressive osseous heteroplasia of the face in a child. Biopsy showed osteoma cutis superficially with ectopic bone formation in the deeper tissues including skeletal muscle. Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia.     

Richter's hernia

Richter's hernia is associated with rapid onset of gangrene and a high mortality. We report a case of a strangulated inguinal Richter's hernia of the cecum requiring a laparotomy and bowel resection. Due to the misleading clinical presentation, a high index of suspicion, particularly in patients with a history of laparoscopic surgery, will minimize delay in diagnosis.     

Neonatal cause-of-death estimates for the early and late neonatal periods for 194 countries: 2000–2013

ObjectiveTo estimate cause-of-death distributions in the early (0–6 days of age) and late (7–27 days of age) neonatal periods, for 194 countries between 2000 and 2013.MethodsFor 65 countries with high-quality vital registration, we used each country’s observed early and late neonatal proportional cause distributions. For the remaining 129 countries, we used multinomial logistic models to estimate these distributions. For countries with low child mortality we used vital registration data as inputs and for countries with high child mortality we used neonatal cause-of-death distribution data from studies in similar settings. We applied cause-specific proportions to neonatal death estimates from the United Nations Inter-agency Group for Child Mortality Estimation, by country and year, to estimate cause-specific risks and numbers of deaths.FindingsOver time, neonatal deaths decreased for most causes. Of the 2.8 million neonatal deaths in 2013, 0.99 million deaths (uncertainty range: 0.70–1.31) were estimated to be caused by preterm birth complications, 0.64 million (uncertainty range: 0.46–0.84) by intrapartum complications and 0.43 million (uncertainty range: 0.22–0.66) by sepsis and other severe infections. Preterm birth (40.8%) and intrapartum complications (27.0%) accounted for most early neonatal deaths while infections caused nearly half of late neonatal deaths. Preterm birth complications were the leading cause of death in all regions of the world.ConclusionThe neonatal cause-of-death distribution differs between the early and late periods and varies with neonatal mortality rate level. To reduce neonatal deaths, effective interventions to address these causes must be incorporated into policy decisions.     

Biology‐Driven Gene‐Gene Interaction Analysis of Age‐Related Cataract in the eMERGE Network

Bioinformatics approaches to examine gene‐gene models provide a means to discover interactions between multiple genes that underlie complex disease. Extensive computational demands and adjusting for multiple testing make uncovering genetic interactions a challenge. Here, we address these issues using our knowledge‐driven filtering method, Biofilter, to identify putative single nucleotide polymorphism (SNP) interaction models for cataract susceptibility, thereby reducing the number of models for analysis. Models were evaluated in 3,377 European Americans (1,185 controls, 2,192 cases) from the Marshfield Clinic, a study site of the Electronic Medical Records and Genomics (eMERGE) Network, using logistic regression. All statistically significant models from the Marshfield Clinic were then evaluated in an independent dataset of 4,311 individuals (742 controls, 3,569 cases), using independent samples from additional study sites in the eMERGE Network: Mayo Clinic, Group Health/University of Washington, Vanderbilt University Medical Center, and Geisinger Health System. Eighty‐three SNP‐SNP models replicated in the independent dataset at likelihood ratio test P < 0.05. Among the most significant replicating models was rs12597188 (intron of CDH1)–rs11564445 (intron of CTNNB1). These genes are known to be involved in processes that include: cell‐to‐cell adhesion signaling, cell‐cell junction organization, and cell‐cell communication. Further Biofilter analysis of all replicating models revealed a number of common functions among the genes harboring the 83 replicating SNP‐SNP models, which included signal transduction and PI3K‐Akt signaling pathway. These findings demonstrate the utility of Biofilter as a biology‐driven method, applicable for any genome‐wide association study dataset.     

Factors influencing the basal and recombinant human thyrotropin-stimulated serum thyroglobulin in patients with metastatic thyroid carcinoma

The serum thyroglobulin (Tg) level is the most sensitive marker for detecting residual thyroid carcinoma. We hypothesized that the basal and TSH-stimulated Tg levels in patients with metastatic thyroid carcinoma would reflect tumor volume, histological subtype, and location of metastatic lesions. A retrospective review of 417 thyroid cancer survivors undergoing evaluation for residual disease with the assistance of recombinant human TSH (rhTSH) was performed. In 169 patients with metastatic disease, we found that the basal Tg level directly correlated with the number of lesions, and that it was highest in patients with follicular and lowest in those with papillary thyroid carcinoma. The basal Tg level was highest in patients with bone metastases and lowest in those with cervical metastases. The fold increase in the serum Tg after rhTSH treatment was highest in papillary thyroid carcinoma and lowest in Hurthle cell carcinoma. The fold increase in Tg was not influenced by tumor volume or by the site of metastatic lesions. Multivariate analysis showed multiple interactions between factors, but did not identify one factor that significantly influenced basal Tg or fold increase. We conclude that the location and volume of metastases influence basal Tg, but not its responsiveness to rhTSH, whereas the histological type of carcinoma influences both basal Tg and responsiveness to rhTSH.     

ACEP Guidelines on Acute Nontraumatic Headache Diagnosis and Management in the Emergency Department,Commentary on Behalf of the Refractory,Inpatient, Emergency Care Section of the American Headache Society

The American College of Emergency Physicians (ACEP) published guidelines in July 2019 on the diagnosis and management of acute nontraumatic headaches in the emergency department, focusing predominantly on the diagnosis of subarachnoid hemorrhage and the role of imaging and lumbar puncture in diagnosis. The ACEP Clinical Policies document is intended to aide Emergency Physicians in their approach to patients presenting with acute headache and to improve the accuracy of diagnosis, while promoting safe patient care practices. The Clinical Policies document also highlights the need for future research into best practices to distinguish primary from secondary headaches and the efficacy and safety of current treatment options for acute headaches. The following commentary on these guidelines is intended to support and expand on these guidelines from the Headache specialists’ perspective, written on behalf of the Refractory, Inpatient, Emergency Care section of the American Headache Society (AHS). The commentary have been reviewed and approved by Board of Directors of the AHS.     

Consider the context: Blocked versus interleaved presentation of antisaccade trials

Conclusions about the cognitive and neural requirements of saccade control may differ as a result of stimulus presentation method. This issue was examined in the current study by evaluating behavioral differences in pro- and antisaccade responses among 12 healthy young adults as a function of task presentation method, length of cue-to-target interval, and previous trial type. A 1-s cue-to-target interval fostered goal neglect, indicated by an increase in uncorrected errors and reaction times for "error" saccades. There was also a strong relationship between speed of visual orienting (prosaccade latencies) and failed inhibition (antisaccade errors) for the simultaneous condition. Interestingly, only the simultaneous condition produced task switch costs (on saccade latencies and error response percentages). The saccadic task presentation method, therefore, can influence conclusions about the cognitive operations supporting successful performance.