The importance of fetal autopsy: An institutional review and development of best practices for reporting size and estimating gestational age at demise.

OBJECTIVES: Fetal and neonatal autopsy offers critical insight into disease processes and clinical decision-making in reproductive medicine. Elucidating the cause of death and gaining a deeper understanding of the entities leading to fetal demise aids in anticipatory guidance for physicians and patients. Accurate assessment of growth and dating of fetuses is an important aspect of classifying pathology in the fetal and neonatal population. This study aims to optimize the autopsy approach to sizing and dating discrepancies, in addition to exploring the current trends in causes of stillbirth, with respect to placental, fetal/neonatal, and maternal factors, and rates of cases that remain undetermined after autopsy. METHODS: A single-institution retrospective review of autopsy reports from mid-2008 through 2021 revealed 243 complete perinatal autopsy examinations. RESULTS: Placental cause of demise was identified in 46% of cases. Cause of demise was undetermined in 22% of cases. Evaluation of a subset of cases exposed minimal to no reporting of size and/or dating discrepancies in almost half of cases with undetermined cause of death. CONCLUSIONS: "Best practice" suggestions for sizing and dating fetuses/neonates in the postmortem period have been developed to aid in delivering clear, consistent reports. Because fetal and neonatal autopsy is an invaluable tool for understanding the factors that contribute to stillbirth, it is important to use appropriate sizing and dating methods and consistent language to deliver proper patient education and clinical guidance.

Long-Term Effect of TBX4 Germline Mutation on Pulmonary Clinico-Histopathologic Phenotype.

Tbx4 protein, expressed in mesenchyme of the developing lung, contributes to airway branching and distal lung growth. An association between pediatric onset of pulmonary arterial hypertension (PAH) and genetic variations coding for the T-box transcription factor 4 gene (TBX4) has been increasingly recognized. Tbx4-related PAH onset has a bimodal age distribution, including severe to lethal PAH in newborns and later onset PAH. We present an autopsy study of a 24-year-old male with a heterozygous TBX4 variant, who developed pulmonary arterial hypertension at age 12 years. This unique case highlights the complex pulmonary histopathology leading to lethal cardiopulmonary failure in the setting of TBX4 mutation.

Fetal and Neonatal Autopsy in the Molecular Age: Exploring Tissue Selection for Testing Success.

While conventional autopsy is the gold-standard for determining cause of demise in the fetal and neonatal population, molecular analysis is increasingly used as an ancillary tool. Testing methods and tissue selection should be optimized to provide informative genetic results. This institutional review compares testing modalities and postmortem tissue type in 53 demises occurring between 20 weeks of gestation and 28 days of life. Testing success, defined as completion of analysis, varies by technique and may require viable cells for culture or extractable nucleic acid. Success was achieved by microarray in 29/30 tests (96.7%), karyotype in 40/54 tests (74.1%), fluorescent in situ hybridization in 5/9 tests (55.6%), and focused gene panels in 2/2 tests (100%). With respect to tissue type, postmortem prepartum amniotic fluid was analyzed to completion in 100% of tests performed; compared to 84.0%, 54.5%, and 80.8% of tests using placenta, fetal only, and mixed fetal-placental tissue collection, respectively. Sampling skin (83.3%, in cases with minimal maceration) and kidney (75.0%) were often successful, compared to lower efficacy of umbilical cord (57.1%) and liver (25.0%). Addition of genetic testing into cases with anomalous clinical and gross findings can increase the utility of the final report for family counseling and future pregnancy planning.

Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.

Small cell carcinoma of the ovary hypercalcemic type (SCCOHT) is a rare and aggressive disease. While classically linked to mutations in SMARCA4, we describe a case in a patient with both SMARCA4 and BRCA2 germline mutations. We describe her disease presentation, histopathology and treatment with adjuvant systemic chemotherapy, interval hyperthermic intraperitoneal chemotherapy, high dose chemotherapy with stem cell rescue, and maintenance with a poly-ADP-ribose polymerase inhibitor (PARPi). Additionally, we share spatial transcriptomics completed on original tumor.

Extrarenal, Soft Tissue Malignant Rhabdoid Tumor Arising in the Mons Pubis.

Extrarenal, extracranial malignant rhabdoid tumors (MRT) are uncommon malignancies with poor prognoses that may be diagnostically challenging. Reports of soft tissue MRTs in children are rare. For this reason, there are no standard treatment protocols. Historically, an aggressive multimodal approach has been taken. Here, we present a case of metastatic superficial pelvic MRT in a 16-year-old girl who remains disease-free after aggressive multi-modal therapy.

Verification of Maximal Oxygen Uptake in Active Military Personnel During Treadmill Running.

ABSTRACT: Figueiredo, PS, Looney, DP, Pryor, JL, Doughty, EM, McClung, HL, Vangala, SV, Santee, WR, Beidleman, BA, and Potter, AW. Verification of maximal oxygen uptake in active military personnel during treadmill running. J Strength Cond Res 36(4): 1053-1058, 2022-It is unclear whether verification tests are required to confirm "true" maximal oxygen uptake (V̇o2max) in modern warfighter populations. Our study investigated the prevalence of V̇o2max attainment in U.S. Army soldiers performing a traditional incremental running test. In addition, we examined the utility of supramaximal verification testing as well as repeated trials for familiarization for accurate V̇o2max assessment. Sixteen U.S. Army soldiers (1 woman, 15 men; age, 21 ± 2 years; height, 1.73 ± 0.06 m; body mass, 71.6 ± 10.1 kg) completed 2 laboratory visits, each with an incremental running test (modified Astrand protocol) and a verification test (110% maximal incremental test speed) on a motorized treadmill. We evaluated V̇o2max attainment during incremental testing by testing for the definitive V̇O2 plateau using a linear least-squares regression approach. Peak oxygen uptake (V̇o2peak) was considered statistically equivalent between tests if the 90% confidence interval around the mean difference was within ±2.1 ml·kg-1·min-1. Oxygen uptake plateaus were identified in 14 of 16 volunteers for visit 1 (87.5%) and all 16 volunteers for visit 2 (100%). Peak oxygen uptake was not statistically equivalent, apparent from the mean difference in V̇o2peak measures between the incremental test and verification test on visit 1 (2.3 ml·kg-1·min-1, [1.3-3.2]) or visit 2 (1.1 ml·kg-1·min-1 [0.2-2.1]). Interestingly, V̇o2peak was equivalent, apparent from the mean difference in V̇o2peak measures between visits for the incremental tests (0.0 ml·kg-1·min-1 [-0.8 to 0.9]) but not the verification tests (-1.2 ml·kg-1·min-1 [-2.2 to -0.2]). Modern U.S. Army soldiers can attain V̇o2max by performing a modified Astrand treadmill running test. Additional familiarization and verification tests for confirming V̇o2max in healthy active military personnel may be unnecessary.

Effects of modern military backpack loads on walking speed and cardiometabolic responses of US Army Soldiers.

INTRODUCTION: Military leaders must understand how modern military equipment loads affect trade-offs between movement speed and physiological strain to optimize pacing strategies. PURPOSE: To evaluate the effects of load carried in a recently developed military backpack on the walking speed and cardiometabolic responses of dismounted warfighters. METHODS: Fifteen soldiers (1 woman, 14 men; age, 22 ± 2 years; height, 173 ± 7 cm; body mass (BM), 73 ± 10 kg) completed incremental walking tests with four external load conditions (0, 22, 44, or 66% BM) using the US Army's newest backpack: the Modular Lightweight Load-Carrying Equipment 4000 (MOLLE 4000). Oxygen uptake (V̇O2) and heart rate (HR) were evaluated relative to maximal values (V̇O2max and HRmax respectively). Testing ceased when participants completed the highest tested speed (1.97 m s-1), exceeded a respiratory exchange ratio (RER) of 1.00, or reached volitional exhaustion. RESULTS: Peak speed significantly decreased (p < 0.03) with successively heavier loads (0% BM, 1.95 ± 0.06 m s-1; 22% BM, 1.87 ± 0.10 m s-1; 44% BM, 1.69 ± 0.13 m s-1; 66% BM, 1.48 ± 0.13 m s-1). Peak V̇O2 was significantly lower (p < 0.01) with 0% BM (47 ± 5% V̇O2max) than each load (22% BM, 58 ± 8% V̇O2max; 44% BM, 63 ± 10% V̇O2max; 66% BM, 61 ± 11% V̇O2max). Peak HR was significantly lower (p < 0.01) with 0% BM (71 ± 5% HRmax) versus each load (22% BM, 83 ± 6% HRmax; 44% BM, 87 ± 6% HRmax; 66% BM, 88 ± 6% HRmax). CONCLUSION: Overburdened warfighters suffer severe impairments in walking speed even when carrying recently developed military load carriage equipment. Our results suggest that the relative work intensity of heavy load carriage may be better described when expressed relative to HRmax versus V̇O2max.

Formulae for calculating body surface area in modern U.S. Army Soldiers.

PURPOSE: Body surface area (BSA) is an important measurement for many thermophysiological, pharmaceutical, toxicological, environmental, and military applications. Unfortunately, BSA is difficult to quantify, and existing prediction methods are not optimized for contemporary populations. METHODS: The present study analyzed data body measurements from 5603 male and female participants of a US Army Anthropometric Survey to determine optimal methods for estimating BSA in modern US Army Soldiers. This data included 94 individual body measurements as well as three dimensional (3D) whole body scans for each participant. We used this data to assess and compared 15 existing equations to the measured data. We also derived best fitting nonlinear regression models for estimating BSA from different combinations of sex, height, and weight and iteratively included the remaining 91 measurements to determine which combinations resulted in the highest goodness-of-fit. RESULTS: We found that inclusion of armspan measurements as a third body dimension maximized the model goodness-of-fit. CONCLUSION: Some of the existing formulae provide reasonable estimates of 3D-scanner derived BSA; while our new formulae derived from this study allows for more accurate estimates of BSA using one or more common input variables.

Selective vs Complete Sampling in Hysterectomy Specimens Performed for Atypical Hyperplasia.

OBJECTIVES: Atypical hyperplasia of the endometrium is a significant risk factor for uterine endometrioid carcinoma (EC) and an indication for hysterectomy. Standard sampling of these specimens includes evaluation of the entire endometrium to identify possible EC. We evaluated a method of selective sampling in an effort to balance resource utilization with diagnostic accuracy in the detection of EC. METHODS: Histologic diagnoses based on selective sampling (exclusion of every other block of endometrium) were compared with the original diagnosis based on complete sampling. RESULTS: Double-blinded review of these cases using selective sampling detected EC in 92% of hysterectomies, including all high-grade/high-stage carcinomas. Selective sampling had an 82% agreement with the original diagnoses, with most discordant diagnoses attributable to interobserver variability. Adjusting for interobserver variability increased diagnostic agreement between selective and complete sampling to 96%. CONCLUSIONS: Selective sampling is a feasible method to save time and resources while maintaining diagnostic accuracy.

Investigating adaptive grieving styles: a Delphi study.

There has been an evolution in the understanding of the nature of grief since S. Freud's initial work, Mourning and Melancholia (1917/1953). Mental health practitioners and researchers have established new models to aid in the conceptualization and treatment of grief issues. The purpose of this study was to examine the opinions of experts in the field of grief regarding elements of a new model of adult bereavement, Martin and Doka's (2000) adaptive grieving styles, using the Delphi Method to identify points of consensus. A survey of 20 experts in the field of thanatology reached consensus on 21 items in which the panelists addressed the uniqueness of the griever, recognized there are multiple factors that influence the grieving process (i.e., culture, personality, and gender), that most bereaved individuals use both cognitive and affective strategies in adapting to bereavement, and that bereaved individuals experience both internal and external pressures to grieve in particular ways.

The effect of low-intensity pulsed ultrasound on autologous osteochondral plugs in a canine model.

BACKGROUND: Low-intensity pulsed ultrasound promotes the enchondral portion of fracture healing, which has a direct stimulatory effect on cartilage formation and maturation. HYPOTHESIS: Daily ultrasound treatment positively affects the repair and incorporation of modified autologous osteochondral plugs in a canine model. STUDY DESIGN: Controlled laboratory study. METHODS: In 18 dogs, 2 autologous plugs separated from host cartilage by a 1.5-mm gap were created on the medial femoral condyle in both knees of each dog. One knee was treated daily with a clinically available ultrasound bone stimulator. Animals were sacrificed after 6 and 12 weeks of therapy and the articular surfaces evaluated grossly and histologically. RESULTS: Ultrasound-treated sites had significantly improved gross appearance at 6 weeks and histologic appearance at 6 and 12 weeks. The interface repair tissue of ultrasound-treated sites had a more normal translucent appearance than control sites. Ultrasound treatment improved the cell morphologic characteristics of the interface repair tissue and increased subchondral bone regeneration. Bonding of the interface repair tissue between plug and adjacent cartilage was significantly improved compared with control sites. CONCLUSION: Low-intensity pulsed ultrasound improved interface cartilage repair of autologous osteochondral plugs compared with controls in a canine model. CLINICAL RELEVANCE: Improvements in the quality and rate of repair of autologous osteochondral plugs may reduce postoperative recovery time and improve functional outcome.