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2.
Int J Gynecol Pathol ; 2023 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-37922954

RESUMO

Metastatic hepatocellular carcinoma (HCC) to the ovary is a rare and challenging histopathological diagnosis in the absence of the relevant clinical history. The differential diagnoses of a hepatoid tumor in the ovary are extensive, and correct diagnosis requires well-considered clinical-pathologic correlation. Familiarity with the diverse architectural patterns and immunophenotype of HCC is essential; however, even in the setting of known hepatic disease, a well-developed pseudoglandular pattern may be a convincing morphologic mimic of a primary surface epithelial ovarian malignancy. We describe a diagnostically challenging case of a 50-year-old woman with metastatic HCC exhibiting a prominent pseudoglandular pattern mimicking primary endometrioid adenocarcinoma, and an approach to overcome this important pitfall.

3.
Nat Med ; 29(1): 180-189, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36658419

RESUMO

Pregnancy loss and perinatal death are devastating events for families. We assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies.


Assuntos
Aborto Espontâneo , Morte Perinatal , Gravidez , Humanos , Feminino , Morte Perinatal/etiologia , Autopsia , Aborto Espontâneo/genética , Diagnóstico Pré-Natal , Genômica
4.
J Racial Ethn Health Disparities ; 10(5): 2513-2527, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-36715821

RESUMO

This study employs multi-level and mixed-methods approaches to examine how structural violence affects the health of low-income, single Black mothers. We use multilevel regression models to examine how feeling "trapped" in racially segregated neighborhoods with high levels of violence on the South Side of Chicago affects mothers' (N = 69) reports of posttraumatic stress disorder and depressive symptoms. The relationship between feeling "trapped" and variations in expression of mRNA for the glucocorticoid receptor gene NR3C1 using microarray assays was also examined. The regression models revealed that feeling "trapped" significantly predicted increased mental distress in the form of PTSD, depressive symptoms, and glucocorticoid receptor gene regulation. The mothers' voices revealed a nuanced understanding about how a lack of financial resources to move out of the neighborhood creates feelings of being "trapped" in dangerous situations.


Assuntos
Mães , Transtornos de Estresse Pós-Traumáticos , Feminino , Humanos , Receptores de Glucocorticoides , Depressão/diagnóstico , Chicago , Violência
5.
Pathology ; 54(7): 888-892, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-35864008

RESUMO

Resuscitated apparent stillbirth (RAS) is defined as an infant with APGAR scores of 0 at 1 minute of life who receives successful resuscitation. Assessment of placental pathology is considered standard of care in such infants, but the clinical significance of these placental findings as they relate to clinical outcomes has yet to be described within the literature. We report the findings of a retrospective study of placental pathology as defined by the Amsterdam and Dublin criteria of RAS infants born in South Australia over an 8-year period. The aim of this study was to assess whether placental pathology was able to predict RAS clinical outcomes of death, survival with adverse neurological outcomes, and survival with normal neurological outcomes. The RAS cohort within our study is small, reflecting the low incidence of RAS. Of the 25 RAS subjects 16 survived, five with abnormal neurological outcomes and 11 with normal neurological outcomes. No statistically significant difference was seen between the clinical outcome groups in the incidence of specific macroscopic and microscopic placental findings. No sentinel lesion was seen in any one clinical outcome group. Relevant placental pathology was found in all but one subject validating the role of placental pathology in determination of the aetiology of RAS. The most common finding was maternal vascular malperfusion. Placental pathology in RAS infants remains relevant but is unable to contribute to the matrix of predictive information available to the clinician and family.


Assuntos
Doenças Placentárias , Natimorto , Lactente , Gravidez , Feminino , Humanos , Placenta/patologia , Estudos Retrospectivos , Doenças Placentárias/patologia , Incidência
6.
BMC Med Genomics ; 14(1): 64, 2021 02 27.
Artigo em Inglês | MEDLINE | ID: mdl-33639934

RESUMO

BACKGROUND: Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. CASE PRESENTATION: We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. CONCLUSION: We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.


Assuntos
Heterotopia Nodular Periventricular , Encéfalo , Imageamento por Ressonância Magnética
7.
Orbit ; 39(6): 433-436, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31809621

RESUMO

Sebaceous carcinoma (SC) is the third most common eyelid malignancy in Australia, and is potentially fatal. It usually presents as a nodule or diffuse eyelid thickening, and is commonly misdiagnosed. We describe a case of SC with lacrimal sac involvement, presenting with clinical features of nasolacrimal duct obstruction. At the time of endoscopic dacryocystorhinostomy (DCR), nasal endoscopy revealed a polypoid mass of the opened lacrimal sac. Biopsy of the mass showed poorly differentiated SC. The lacrimal drainage apparatus was later excised via a combined external and endoscopic approach. Conjunctival map biopsies showed extensive intraepithelial disease, which was treated with topical mitomycin C. At three-month follow-up, there was no evidence of residual disease on nasal endoscopy or repeat conjunctival biopsy.


Assuntos
Adenocarcinoma Sebáceo/complicações , Neoplasias Oculares/complicações , Doenças do Aparelho Lacrimal/complicações , Obstrução dos Ductos Lacrimais/etiologia , Ducto Nasolacrimal/patologia , Neoplasias das Glândulas Sebáceas/complicações , Adenocarcinoma Sebáceo/diagnóstico , Adenocarcinoma Sebáceo/cirurgia , Antibióticos Antineoplásicos/uso terapêutico , Dacriocistorinostomia , Neoplasias Oculares/diagnóstico , Neoplasias Oculares/cirurgia , Feminino , Humanos , Doenças do Aparelho Lacrimal/diagnóstico , Doenças do Aparelho Lacrimal/cirurgia , Pessoa de Meia-Idade , Mitomicina/uso terapêutico , Cirurgia Endoscópica por Orifício Natural , Neoplasias das Glândulas Sebáceas/diagnóstico , Neoplasias das Glândulas Sebáceas/cirurgia
8.
Afr J Reprod Health ; 21(4): 45-54, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29624950

RESUMO

This study examines the connection between intimate partner violence (IPV) and Human Immunodeficiency Virus status among married and cohabitating women in Zimbabwe using an African feminist framework. Stata 13.0 was used to analyze data from the 2010-2011 Zimbabwe Demographic and Health Survey, which used a national probability sample of households in the country of Zimbabwe. This study used logistic regression to analyze the 2,830 ever-married or cohabitating women who also answered the violence and spousal traits questionnaire as well as provided blood samples. The logistic regression revealed that women who had experienced any type of intimate partner violence (odds ratio=1.29, CI [1.00, 1.67]) or broken bones (odds ratio=2.39, CI [1.19, 4.77]) were more likely to be HIV positive; relative to those with bruises bruises (odds ratio=- .64 CI [.41, .99]) were less likely. Women with partners who are trackers (odds ratio=1.28, CI [1.04, 1.59]) were more likely to be HIV positive. Patriarchal, hypermasculist culture, shown through violence against women, contributes to the likelihood of HIV in wives and partners. A cultural shift at the highest levels may help to prevent IPV and reduce the spread of HIV.


Assuntos
Violência Doméstica , Características da Família , Infecções por HIV/epidemiologia , Infecções por HIV/psicologia , Violência por Parceiro Íntimo/estatística & dados numéricos , Sexismo , Parceiros Sexuais , Cônjuges/psicologia , Adulto , Feminino , Infecções por HIV/diagnóstico , Inquéritos Epidemiológicos , Humanos , Fatores de Risco , Maus-Tratos Conjugais/estatística & dados numéricos , Inquéritos e Questionários , Saúde da Mulher , Adulto Jovem , Zimbábue/epidemiologia
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