乳腺管状小叶癌

乳腺管状小叶癌（Tubulolobular carcinoma，TLC）最初是被作为小叶癌的管状变型。作者总结了27例TLC的组织学、免疫表型和临床特征，并与纯小管癌和经典型小叶癌进行了比较。此组患者年龄43-79岁（中位年龄60岁）。1例双侧乳腺受累，5例病变为多灶性。肿瘤直径0．5-2．5cm，色灰褐，质硬。组织学观察：TLC的肿瘤细胞形成管状和条索状两种结构模式并相互混杂，且两者比例相当（统称为管状小叶模式）。     

Detection of the CD56+/CD45- immunophenotype by flow cytometry in neuroendocrine malignancies

AIMS: Antibodies against CD56 are primarily used in flow cytometric studies to detect natural killer cells. However, they may be useful in the identification of neuroendocrine malignancies, especially if the cells do not express CD45, indicating a non-leucocyte origin. METHODS: A retrospective review was conducted on all solid tissue flow cytometric studies performed between January 1997 and September 2001, to identify all cases with a CD56+/CD45- immunophenotype. RESULTS: Twelve neuroendocrine malignancies (five metastatic small cell carcinomas, three Merkel cell carcinomas, two metastatic undifferentiated neuroendocrine carcinomas, one metastatic pancreatic neuroendocrine carcinoma, and one neuroblastoma) were identified. CONCLUSIONS: CD56+/CD45- neuroendocrine malignancies are only rarely detected in the flow cytometric analysis of solid tissue samples. However, the recognition of this immunophenotype is important to avoid their misclassification as natural killer cell malignancies. Furthermore, flow cytometry assists in the rapid identification of such cases, so that appropriate immunohistochemical studies can be performed to facilitate their correct diagnosis.     

Modulation of immune responses to Mycobacterium bovis in cattle depleted of WC1(+) gamma delta T cells

It is accepted that cell-mediated immune responses predominate in mycobacterial infections. Many studies have shown that CD4(+) T cells produce Th1 cytokines, such as gamma interferon (IFN-gamma), in response to mycobacterial antigens and that the cytolytic activity of CD8(+) cells toward infected macrophages is important. However, the extent and manner in which gamma delta T cells participate in this response remain unclear. In ruminants, gamma delta T cells comprise a major proportion of the peripheral blood mononuclear cell population. We have previously shown that WC1(+) gamma delta T cells are involved early in Mycobacterium bovis infection of cattle, but their specific functions are not well understood. Here we describe an in vivo model of bovine tuberculosis in which the WC1(+) gamma delta T cells were depleted from the peripheral circulation and respiratory tract, by infusion of WC1(+)-specific monoclonal antibody, prior to infection. While no effects on disease pathology were observed in this experiment, results indicate that WC1(+) gamma delta T cells, which become significantly activated (CD25(+)) in the circulation of control calves from 21 days postinfection, may play a role in modulating the developing immune response to M. bovis. WC1(+)-depleted animals exhibited decreased antigen-specific lymphocyte proliferative response, an increased antigen-specific production of interleukin-4, and a lack of specific immunoglobulin G2 antibody. This suggests that WC1(+) gamma delta TCR(+) cells contribute, either directly or indirectly, toward the Th1 bias of the immune response in bovine tuberculosis--a hypothesis supported by the decreased innate production of IFN-gamma, which was observed in WC1(+)-depleted calves.     

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

To delineate further the clinical phenotype of Lamb–Shaffer Syndrome (LSS) 16 unpublished patients with heterozygous variation in SOX5 were identified either through the UK Decipher database or the study team was contacted by clinicians directly. Clinical phenotyping tables were completed for each patient by their responsible clinical geneticist. Photos and clinical features were compared to assess key phenotypes and genotype–phenotype correlation. We report 16 SOX5 variants all of which meet American College of Medical Genetics/Association for Clinical Genomic Science ACMG/ACGS criteria class IV or V. 7/16 have intragenic deletions of SOX5 and 9/16 have single nucleotide variants (including both truncating and missense variants). The cohort includes two sets of monozygotic twins and parental gonadal mosaicism is noted in one family. This cohort of 16 patients is compared with the 71 previously reported cases and corroborates previous phenotypic findings. As expected, the most common findings include global developmental delay with prominent speech delay, mild to moderate intellectual disability, behavioral abnormalities and sometimes subtle characteristic facial features. We expand in more detail on the behavioral phenotype and observe that there is a greater tendency toward lower growth parameters and microcephaly in patients with single nucleotide variants. This cohort provides further evidence of gonadal mosaicism in SOX5 variants; this should be considered when providing genetic counseling for couples with one affected child and an apparently de novo variant.     

The effect of recombinant human growth hormone on responses to alloantigens in the pediatric transplant patient

Recombinant human growth hormone (rhGH) improves growth in children after renal transplantation, but may be associated with augmented immune responses. We previously demonstrated that rhGH augments proliferative and cytotoxic responses and interferon-gamma (IFN-) mRNA expression during a mixed leukocyte culture (MLC). In this study, we evaluated 12 pediatric patients after receiving a renal allograft from one of their parents. Peripheral blood mononuclear cells (PBMC) were isolated from patients and cultured with either donor or unrelated third-party PBMC in an MLC. Patients developed significant donor-specific hyporesponsiveness (DSH), however, no correlation was seen between the amount of DSH and graft function. Of the 12 patients, 2 developed augmented responses in the presence of rhGH. rhGH augments proliferation, cytotoxicity, and IFN- expression during an MLC. Some patients develop increased responses to donorspecific alloantigens after renal transplantation. Further study is needed to better determine the significance of this finding.     

Traumatic brain injury and lifetime suicidality: Applying the interpersonal-psychological theory perspective

The present article investigates the traumatic brain injury (TBI)-suicide link, assessing whether (a) TBI accounts for variance in suicide risk, and (b) the interpersonal-psychological theory of suicide can be applied to TBI status. Matched case-control procedures applied to archival college student health data identified TBI and non-TBI subsamples (84 total). Individuals with a TBI possessed higher suicide risk than those without. Even accounting for the relative influence of strong suicide risk factors (i.e., depression, perceived burdensomeness, thwarted belongingness, and acquired capability), TBI was robustly associated with suicide risk. TBI history would be valuable to ascertain in assessing suicide risk.