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Metaplasia , Humanos , Esôfago/patologia , Criança , Masculino , Doenças do Esôfago/patologia , FemininoRESUMO
VEGFR2 (Vascular endothelial growth factor receptor 2) is a central regulator of placental angiogenesis. The study of the VEGFR2 proteome of chorionic villi at term revealed its partners MDMX (Double minute 4 protein) and PICALM (Phosphatidylinositol-binding clathrin assembly protein). Subsequently, the oxytocin receptor (OT-R) and vasopressin V1aR receptor were detected in MDMX and PICALM immunoprecipitations. Immunogold electron microscopy showed VEGFR2 on endothelial cell (EC) nuclei, mitochondria, and Hofbauer cells (HC), tissue-resident macrophages of the placenta. MDMX, PICALM, and V1aR were located on EC plasma membranes, nuclei, and HC nuclei. Unexpectedly, PICALM and OT-R were detected on EC projections into the fetal lumen and OT-R on 20-150 nm clusters therein, prompting the hypothesis that placental exosomes transport OT-R to the fetus and across the blood-brain barrier. Insights on gestational complications were gained by univariable and multivariable regression analyses associating preeclampsia with lower MDMX protein levels in membrane extracts of chorionic villi, and lower MDMX, PICALM, OT-R, and V1aR with spontaneous vaginal deliveries compared to cesarean deliveries before the onset of labor. We found select associations between higher MDMX, PICALM, OT-R protein levels and either gravidity, diabetes, BMI, maternal age, or neonatal weight, and correlations only between PICALM-OT-R (p < 2.7 × 10-8), PICALM-V1aR (p < 0.006), and OT-R-V1aR (p < 0.001). These results offer for exploration new partnerships in metabolic networks, tissue-resident immunity, and labor, notably for HC that predominantly express MDMX.
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Diabetes Mellitus , Pré-Eclâmpsia , Feminino , Humanos , Recém-Nascido , Gravidez , Número de Gestações , Ocitocina/metabolismo , Placenta/metabolismo , Pré-Eclâmpsia/metabolismo , Proteômica , Receptores de Ocitocina/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismo , Receptor 2 de Fatores de Crescimento do Endotélio Vascular/metabolismoRESUMO
CONTEXT.: Autopsies performed on COVID-19 patients have provided critical information about SARS-CoV-2's tropism, mechanisms of tissue injury, and the spectrum of disease. OBJECTIVE.: To provide an updated database of postmortem disease in COVID-19 patients, assess relationships among clinical and pathologic variables, evaluate the accuracy of death certification, and correlate disease variables to causes of death. DESIGN.: The 272 postmortem examinations reported in this paper were submitted by 14 pathologists from 9 medical or forensic institutions across the United States. The study spans the eras of the 3 principal COVID-19 strains and incorporates surveyed demographic, clinical, and postmortem data from decedents infected with SARS-CoV-2, including primary and contributing causes of death. It is the largest database of its kind to date. RESULTS.: Demographics of the decedents reported here correspond well to national statistics. Primary causes of death as determined by autopsy and official death certificates were significantly correlated. When specifically cited disease conditions found at autopsy were correlated with COVID-19 versus non-COVID-19 death, only lung findings characteristic of SARS-CoV-2 infection or the absence of lung findings were significantly associated. CONCLUSIONS.: Changes in hospitalization and disease likely stem from longer lifespans after COVID-19 diagnosis and alteration in treatment approaches. Although Omicron variants preferentially replicate in the upper airways, autopsied patients who died of COVID-19 in that time period showed the same lung damage as earlier decedents. Most importantly, findings suggest that there are still unelucidated risk factors for death from COVID-19 including possibly genetic susceptibility.
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Giant chorangiomas are uncommon yet frequently associated with adverse pregnancy outcomes. A 37-year-old female was referred due to findings of a placental mass during a second-trimester ultrasound. A fetal survey at 26 weeks revealed a 69×97×75 mm heterogenous placental tumor with two prominent feeding vessels. Her prenatal course was complicated by worsening polyhydramnios requiring amnioreduction, gestational diabetes, and transient severe ductal arch (DA) constriction. Placental pathology confirmed the diagnosis of giant chorioangioma following delivery at 36 weeks. To our knowledge, this represents the first case of DA constriction in the setting of a giant chorangioma.
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SARS-CoV-2 infects cells via binding to ACE2 and TMPRSS2, which allows the virus to fuse with host cells. The viral RNA is detected in the placenta of SARS-CoV-2-infected pregnant women and infection is associated with adverse pregnancy complications. Therefore, we hypothesize that SARS-CoV-2 infection of placental cells induces pro-inflammatory cytokine release to contribute to placental dysfunction and impaired pregnancy outcomes. First, expression of ACE2 and TMPRSS2 was measured by qPCR in human primary cultured term cytotrophoblasts (CTBs), syncytiotrophoblast (STBs), term and first trimester decidual cells (TDCs and FTDCs, respectively), endometrial stromal cells (HESCs) as well as trophoblast cell lines HTR8, JEG3, placental microvascular endothelial cells (PMVECs) and endometrial endothelial cells (HEECs). Later, cultured HTR8, JEG3, PMVECs and HEECs were treated with 10, 100, 1000 ng/ml of recombinant (rh-) SARS-CoV-2 S-protein ± 10 ng/ml rh-IFNγ. Pro-inflammatory cytokines IL-1ß, 6 and 8, chemokines CCL2, CCL5, CXCL9 and CXCL10 as well as tissue factor (F3), the primary initiator of the extrinsic coagulation cascade, were measured by qPCR as well as secreted IL-6 and IL-8 levels were measured by ELISA. Immunohistochemical staining for SARS-CoV-2 spike protein was performed in placental specimens from SARS-CoV-2-positive and normal pregnancies. ACE2 levels were significantly higher in CTBs and STBs vs. TDCs, FTDCs and HESCs, while TMPRSS2 levels were not detected in TDCs, FTDCs and HESCs. HTR8 and JEG3 express ACE2 and TMPRSS2, while PMVECs and HEECs express only ACE2, but not TMPRSS2. rh-S-protein increased proinflammatory cytokines and chemokines levels in both trophoblast and endothelial cells, whereas rh-S-protein only elevated F3 levels in endothelial cells. rh-IFNγ ± rh-S-protein augments expression of cytokines and chemokines in trophoblast and endothelial cells. Elevated F3 expression by rh-IFNγ ± S-protein was observed only in PMVECs. In placental specimens from SARS-CoV-2-infected mothers, endothelial cells displayed higher immunoreactivity against spike protein. These findings indicated that SARS-CoV-2 infection in placental cells: 1) induces pro-inflammatory cytokine and chemokine release, which may contribute to the cytokine storm observed in severely infected pregnant women and related placental dysfunction; and 2) elevates F3 expression that may trigger systemic or placental thrombosis.
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COVID-19 , Doenças Placentárias , Complicações Infecciosas na Gravidez , Enzima de Conversão de Angiotensina 2 , Linhagem Celular Tumoral , Citocinas/metabolismo , Células Endoteliais/patologia , Feminino , Humanos , Placenta/metabolismo , Doenças Placentárias/patologia , Gravidez , Gestantes , SARS-CoV-2 , Glicoproteína da Espícula de Coronavírus/metabolismo , Tromboplastina/metabolismoRESUMO
Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes. We follow three missense variants with a complete deficit of homozygosity and find that their pathogenic effect in homozygous state ranges from severe childhood disease to early embryonic lethality. One of these variants is in CPSF3, a gene not previously linked to disease. From a set of clinically sequenced Icelanders, and by sequencing archival samples targeted through the Icelandic genealogy, we find four homozygous carriers. Additionally, we find two homozygous carriers of Mexican descent of another missense variant in CPSF3. All six homozygous carriers of missense variants in CPSF3 show severe intellectual disability, seizures, microcephaly, and abnormal muscle tone. Here, we show how the absence of certain homozygous genotypes from a large population set can elucidate causes of previously unexplained recessive diseases and early miscarriage.
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Fator de Especificidade de Clivagem e Poliadenilação/genética , Predisposição Genética para Doença/genética , Homozigoto , Deficiência Intelectual/genética , Mutação de Sentido Incorreto , Adolescente , Alelos , Criança , Pré-Escolar , Feminino , Frequência do Gene , Genética Populacional/métodos , Genótipo , Humanos , Islândia , Lactente , Deficiência Intelectual/patologia , Masculino , Linhagem , Fenótipo , Síndrome , Sequenciamento Completo do Genoma/métodosRESUMO
Kenny-Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. Both conditions are characterized by gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. OCS and KCS2 are often referred to as FAM111A-related syndromes as a group; although OCS presents with a more severe, perinatal lethal phenotype. We report a novel FAM111A mutation in a fetus with poorly ossified skull, proportionate long extremities with thin diaphysis, and hypoplastic spleen consistent with FAM111A-related syndromes. Trio whole exome sequencing identified a p.Y562S de novo missense variant in the FAM111A gene. The variant shows significant similarity to other reported pathogenic mutations fitting proposed pathophysiologic mechanism which provide sufficient evidence for classification as likely pathogenic. Our report contributed a novel variant to the handful of OCS and KCS2 cases reported with pathogenic variants.
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Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Anormalidades Craniofaciais/genética , Nanismo/genética , Hiperostose Cortical Congênita/genética , Hipocalcemia/genética , Receptores Virais/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/patologia , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/patologia , Anormalidades Cardiovasculares/diagnóstico , Anormalidades Cardiovasculares/genética , Anormalidades Cardiovasculares/patologia , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/patologia , Nanismo/diagnóstico , Nanismo/diagnóstico por imagem , Nanismo/patologia , Ossos Faciais/anormalidades , Ossos Faciais/patologia , Feminino , Feto , Predisposição Genética para Doença , Heterozigoto , Humanos , Hiperostose Cortical Congênita/diagnóstico , Hiperostose Cortical Congênita/diagnóstico por imagem , Hiperostose Cortical Congênita/patologia , Hipocalcemia/diagnóstico , Hipocalcemia/diagnóstico por imagem , Hipocalcemia/patologia , Masculino , Mutação/genética , Gravidez , Crânio/anormalidades , Crânio/patologia , Baço/anormalidades , Baço/diagnóstico por imagem , Sequenciamento do ExomaRESUMO
CONTEXT.: This study represents the largest compilation to date of clinical and postmortem data from decedents with coronavirus disease 2019 (COVID-19). It will augment previously published small series of autopsy case reports, refine clinicopathologic considerations, and improve the accuracy of future vital statistical reporting. OBJECTIVE.: To accurately reflect the preexisting diseases and pathologic conditions of decedents with SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection through autopsy. DESIGN.: Comprehensive data from 135 autopsy evaluations of COVID-19-positive decedents is presented, including histologic assessment. Postmortem examinations were performed by 36 pathologists at 19 medical centers or forensic institutions in the United States and Brazil. Data from each autopsy were collected through the online submission of multiple-choice and open-ended survey responses. RESULTS.: Patients dying of or with COVID-19 had an average of 8.89 pathologic conditions documented at autopsy, spanning a combination of prior chronic disease and acute conditions acquired during hospitalization. Virtually all decedents were cited as having more than 1 preexisting condition, encompassing an average of 2.88 such diseases each. Clinical conditions during terminal hospitalization were cited 395 times for the 135 autopsied decedents and predominantly encompassed acute failure of multiple organ systems and/or impaired coagulation. Myocarditis was rarely cited. CONCLUSIONS.: Cause-of-death statements in both autopsy reports and death certificates may not encompass the severity or spectrum of comorbid conditions in those dying of or with COVID-19. If supported by additional research, this finding may have implications for public health decisions and reporting moving forward through the pandemic.
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COVID-19/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Autopsia , Brasil/epidemiologia , COVID-19/diagnóstico , COVID-19/epidemiologia , Causas de Morte , Doença Crônica , Comorbidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Inquéritos e Questionários , Estados Unidos/epidemiologiaRESUMO
Common arterial trunk is a rare anomaly on its own, but with an intact ventricular septum it is extremely rare. An unexpected finding at autopsy prompted a review of the literature and a review of the developmental considerations associated with the outflow tracts. The case presented was an intrauterine fetal death at 37 weeks gestation. At autopsy, the only anatomic abnormalities were pulmonary dominant common arterial trunk with an intact ventricular septum, ventriculo-arterial septal defect, coarctation and widely patent arterial duct. A review of the literature and the developmental concepts related to the outflow tracts of the developing heart demonstrate the rare nature of this particular variation of common arterial trunk.
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OBJECTIVE: The objective of this study is to examine risk factors for neonatal abstinence syndrome (NAS) among infants born to mothers with sickle cell hemoglobinopathies (SCH). STUDY DESIGN: Retrospective cohort study of nonanomalous, singleton infants born to mothers with laboratory confirmed SCH. Infants were included if they were diagnosed with NAS prior to hospital discharge. The outcome of interest was the association of maternal variables with NAS. RESULTS: Of 131 infants born to mothers with SCH, 4% (n = 5) were diagnosed with NAS. Mothers of infants with NAS were more likely to have SC disease (80%) compared with other SCH (20%), p = 0.001. Fifteen women had antepartum (AP) admissions for pain and/or sickle crisis. Of these patients, four infants (29%) were diagnosed with NAS. The median (5th and 95th percentile) maternal AP length of stay for women with infants diagnosed with NAS to mothers with sickle cell disease was 132 (5, 180) days (p = 0.02). CONCLUSION: Incidence of NAS among mothers with SCH is low; severe disease characterized by AP sickle cell crisis requiring prolonged AP admission for pain control significantly increases the risk of NAS. Further studies are needed to investigate the association of maternal opioid dose and NAS.
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Anemia Falciforme , Síndrome de Abstinência Neonatal/etiologia , Complicações Hematológicas na Gravidez , Analgésicos Opioides/uso terapêutico , Anemia Falciforme/tratamento farmacológico , Feminino , Humanos , Recém-Nascido , Mães , Síndrome de Abstinência Neonatal/epidemiologia , Gravidez , Complicações Hematológicas na Gravidez/tratamento farmacológico , Estudos RetrospectivosRESUMO
BACKGROUND: Absent arterial valve leaflets are rare anomalies. On the basis of our understanding of the normal development of the arterial valves, we draw inferences that might offer clues to their morphogenesis. METHODS: We describe the findings from four human fetal autopsies with so-called "absent" arterial valvar leaflets. We then make inferences relative to these finding on the basis of our current understanding of normal development, the latter obtained by analysis of episcopic data sets from a large series of mouse embryos. RESULTS: The fetuses had died between 12 and 15 weeks of gestation. In two cases, we found absence of the leaflets of the pulmonary valve, with patency of the arterial duct, but otherwise normal hearts. In a third case, there was absence of the leaflets of both arterial valves, along with a perimembranous ventricular septal defect and a "window-type" arterial duct. This fetus had a completely muscular subaortic infundibulum. The last fetus had a pulmonary dominant common arterial trunk, with absence of the truncal valvar leaflets, but again with a muscular subtruncal infundibulum. Findings from the analysis of the mouse embryos reveal that the arterial valvar leaflets are formed from the distal outflow cushions, but that the cushions have a separate function in septating the arterial roots and the proximal outflow tracts. CONCLUSIONS: When interpreting the fetal findings in the light of development, we conclude that there had been normal fusion of the major outflow cushions, but failure in excavation of their peripheral margins in three of the cases. In the fourth case, however, the cushions had not only failed to excavate but had also failed to separate the arterial roots.
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Anormalidades Múltiplas , Doenças Fetais/diagnóstico , Artéria Pulmonar/anormalidades , Valva Pulmonar/anormalidades , Persistência do Tronco Arterial/diagnóstico , Autopsia , Evolução Fatal , Humanos , Artéria Pulmonar/embriologia , Valva Pulmonar/embriologia , Persistência do Tronco Arterial/embriologiaRESUMO
Congenital coronary artery anomalies are rare. Pathologists are exposed to those in mainly two settings; in association with sudden death and usually extreme exercise in young adults, and in association with complex congenital heart disease in the pediatric and perinatal population. Pediatric pathologists, other pathologists and pathologists' assistants performing pediatric or forensic autopsies therefore need to be familiar with coronary artery anomalies.
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Anomalias dos Vasos Coronários/patologia , Anomalias dos Vasos Coronários/classificação , HumanosRESUMO
Postmortem evaluation following an in utero fetal demise is essential for determining cause of death and counseling regarding future pregnancies. Severe maceration and fetal size along with patient desires may limit the physician's ability to perform a complete autopsy. In the cases presented, we demonstrate the utility of postmortem ultrasonography as an adjunct to traditional autopsy following fetal demise.
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Autopsia/métodos , Morte Fetal/diagnóstico por imagem , Morte Fetal/patologia , Feminino , Feto , Humanos , UltrassonografiaRESUMO
Background. Although our comprehension of nonrheumatic aortic stenosis (NRAS) has increased substantially during the last decade, less is known about the histopathology of rheumatic aortic stenosis (RAS). The aim of this study was to investigate rheumatic aortic stenosis by means of analyses previously used in nonrheumatic stenosis. Material and Methods. Valve specimens were obtained from 39 patients referred to hospital due to significant aortic stenosis. According to established macroscopic criteria the valves were divided into two groups consisting of 29 NRAS and 10 RAS valves. Mononuclear inflammatory cells and apolipoproteins were investigated using immunohistochemical analyses. Results. The localisation of calcification differed in tricuspid nonrheumatic valves when compared to bicuspid nonrheumatic and rheumatic valves. The RAS valves revealed a lower degree of T lymphocyte infiltration compared with the NRAS valves. Infiltration of macrophages was seen in all valves and there were no differences regarding deposition of apolipoprotein. Conclusion. Rheumatic and nonrheumatic aortic stenotic valves show a similar and significant chronic inflammation. The similarities regarding the localisation of calcification indicate that the valve anomaly/morphology can influence the pathogenesis of aortic stenosis. Finally, our findings highlight the question of a postinflammatory valvular disease of other causes than rheumatic fever.
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A 52 year-old African American female with a past medical history of symptomatic uterine fibroids and increasing abdominal circumference underwent abdominal computed tomography (CT) as part of her workup. Because of an abnormality in the left lower lobe, CT of the chest was subsequently performed and showed a focal region of discontinuous crescentic consolidation with central ground glass opacification in the right lower lobe, suggestive of the reversed halo sign. The patient underwent percutaneous CT-guided core biopsy of the lesion, which demonstrated lymphocytic interstitial pneumonia, a benign lymphoproliferative disease characterized histologically by small lymphocytes and plasma cells. This case report describes the first histologically confirmed presentation of lymphocytic interstitial pneumonia with the reversed halo sign on CT.
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Doenças Pulmonares Intersticiais/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Biópsia Guiada por Imagem/métodos , Doenças Pulmonares Intersticiais/patologia , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X/métodosRESUMO
The decision for aggressive reoperation after discovery of an appendiceal carcinoid is generally based upon criteria such as size, grade, degree of involvement of the mesoappendix or the appendiceal base, lymphovascular invasion, and the presence of goblet cell or adenocarcinoid features. No guidelines currently exist for the management of perforated appendiceal carcinoids. We present a case of perforated appendiceal carcinoid that was subsequently treated with right hemicolectomy, and we review the pertinent literature.
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Neoplasias do Apêndice/complicações , Apendicite/cirurgia , Tumor Carcinoide/complicações , Colectomia/métodos , Perfuração Intestinal/cirurgia , Abscesso Abdominal/complicações , Abscesso Abdominal/cirurgia , Adolescente , Apendicectomia , Neoplasias do Apêndice/diagnóstico , Neoplasias do Apêndice/patologia , Neoplasias do Apêndice/cirurgia , Neoplasias do Apêndice/urina , Apendicite/etiologia , Biomarcadores Tumorais/urina , Tumor Carcinoide/diagnóstico , Tumor Carcinoide/patologia , Tumor Carcinoide/cirurgia , Tumor Carcinoide/urina , Humanos , Ácido Hidroxi-Indolacético/urina , Achados Incidentais , Perfuração Intestinal/etiologia , Laparoscopia , Excisão de Linfonodo , Masculino , Invasividade Neoplásica , Estadiamento de NeoplasiasRESUMO
OBJECTIVE: To evaluate pulmonary growth and development after fetoscopic intraluminal tracheal occlusion (FITO) using a modified 8-mm Z-stent in an ovine model of congenital left-sided diaphragmatic hernia (CDH). METHODS: Thirty-three time-dated ewes were studied: Group I: healthy controls; Group II: CDH controls (untreated); Group III: CDH treated with FITO. CDH was created in Groups II and III at 70-80 days' gestation. FITO was performed at 100-110 days. Left lung histological, morphometric, immunohistochemical and biochemical studies were conducted after delivery and euthanasia at 138 days. RESULTS: Fifteen (45%) animals (Group I: 3; Group II: 5; Group III: 7) were available for analysis. The left lung parenchymal volume to fetal weight ratios were similar between Groups I and III (p = 0.24), and higher than Group II (p < 0.05III (79 versus 75%, p = 0.26), compared to 41% in Group II (p < 0.05). Pulmonary hypoplasia occurred in 1/7 (16%) in the FITO group, compared to 100% in Group II and 0% in Group I (p = .003). DNA and protein were significantly increased in Group III (p < 0.001). The concentration of type II pneumocytes was similar between healthy controls and the FITO group, and was paradoxically increased in untreated hernia fetuses. There was no histological evidence of tracheal injury. CONCLUSION: FITO with a modified 8-mm Z-stent is associated with lung growth and maturation similar to controls without obvious deleterious effects. A phase I clinical trial of FITO with the modified 8-mm Z-stent in severe CDH patients seems warranted.
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Fetoscopia/métodos , Hérnias Diafragmáticas Congênitas , Stents , Oclusão Terapêutica/métodos , Traqueia/cirurgia , Animais , Modelos Animais de Doenças , Feminino , Maturidade dos Órgãos Fetais/fisiologia , Fetoscopia/veterinária , Lateralidade Funcional , Idade Gestacional , Hérnia Diafragmática/patologia , Hérnia Diafragmática/cirurgia , Pulmão/citologia , Pulmão/embriologia , Pulmão/patologia , Gravidez , Carneiro Doméstico , Traqueia/patologiaRESUMO
We report on a case of a prenatally diagnosed non-immune hydrops fetalis and cystic hygroma associated with the balanced translocation t(5;9)(q11.2;p22), an association that to our knowledge has not been reported previously. Both parents had normal karyotypes. The infant was born prematurely at 33 and 3/7 weeks gestation and expired 12 h after delivery.
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Cromossomos Humanos Par 5/genética , Cromossomos Humanos Par 9/genética , Hidropisia Fetal/genética , Linfangioma Cístico/genética , Complicações na Gravidez/genética , Adulto , Feminino , Humanos , Hidropisia Fetal/patologia , Recém-Nascido , Linfangioma Cístico/patologia , Gravidez , Complicações na Gravidez/patologia , Diagnóstico Pré-Natal , Translocação GenéticaRESUMO
Burkitt lymphoma is a highly aggressive form of Non-Hodgkin lymphoma that responds favorably if diagnosed accurately and treated early. Recognition of the various radiologic manifestations of Burkitt lymphoma can help guide the clinician to expedite appropriate chemotherapy. We present two cases that illustrate different radiologic presentations of this aggressive gastrointestinal malignancy in children. Case 1 features a 7-year-old boy who presented to our hospital with recurrent ileocecal intussusception. Case 2 describes a 16-year-old male with history of blood-streaked stools. Ileocectomy was performed in both cases and histologic analysis showed the "starry sky pattern" and t(8;14) translocation, classic for Burkitt lymphoma. Both patients remain disease-free following surgical excision and chemotherapy.
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Linfoma de Burkitt/diagnóstico por imagem , Neoplasias do Íleo/diagnóstico por imagem , Íleo/patologia , Intussuscepção/diagnóstico por imagem , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma de Burkitt/patologia , Linfoma de Burkitt/terapia , Criança , Terapia Combinada , Diagnóstico Precoce , Humanos , Neoplasias do Íleo/patologia , Neoplasias do Íleo/terapia , Intussuscepção/patologia , Intussuscepção/terapia , Masculino , Guias de Prática Clínica como Assunto , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
A case of a premature infant with lactic acidosis and hepatic iron accumulation, born to a mother with multiple fetal demises, is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The discussion includes the differential diagnoses of lactic acidosis and hepatic iron accumulation in infants.