RESUMEN
A rare lymphoproliferative disorder involving thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), renal dysfunction (R), and organomegaly (O), called TAFRO syndrome, was first reported in 2010. Considered a variant of idiopathic multicentric Castleman's disease, the recent discovery and rarity of this syndrome pose challenges to diagnosis and management. Herein, we review three pediatric cases, including an infant, that illustrate the heterogeneity of TAFRO syndrome. Despite differences in presentation and treatment responses, all patients experienced excellent outcomes. This multi-institutional case series highlights the need to work toward earlier diagnosis and improved long-term management recommendations for patients with TAFRO syndrome.
Asunto(s)
Enfermedad de Castleman , Trombocitopenia , Humanos , Masculino , Enfermedad de Castleman/patología , Enfermedad de Castleman/diagnóstico , Enfermedad de Castleman/terapia , Lactante , Femenino , Trombocitopenia/terapia , Trombocitopenia/diagnóstico , Trombocitopenia/patología , Niño , Fiebre/etiología , Preescolar , Síndrome , Edema/patología , Edema/etiología , AdolescenteRESUMEN
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.
Asunto(s)
Muerte Fetal , Mortinato , Recién Nacido , Embarazo , Femenino , Humanos , Mortinato/epidemiología , Muerte Fetal/etiología , Placenta/patología , Hibridación Fluorescente in Situ , Autopsia/métodosRESUMEN
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.
Asunto(s)
Mutación de Línea Germinal , Hipertensión Arterial Pulmonar , Masculino , Niño , Humanos , Recién Nacido , Adulto Joven , Adulto , Hipertensión Arterial Pulmonar/metabolismo , Proteínas de Dominio T Box/genética , Proteínas de Dominio T Box/metabolismo , Pulmón , Mutación , Fenotipo , Hipertensión Pulmonar Primaria Familiar/genética , Hipertensión Pulmonar Primaria Familiar/metabolismo , Factores de Transcripción/genéticaRESUMEN
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.
Asunto(s)
Placenta , Mortinato , Embarazo , Recién Nacido , Humanos , Femenino , Edad Gestacional , Feto , AutopsiaRESUMEN
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.
RESUMEN
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.