Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis

Although infantile myofibromatosis (IM) is the most common fibrous proliferation of infancy, many aspects of this benign lesion have not been explored. IM histogenesis is still poorly understood, despite immunohistochemical staining and ultrastructural features that suggest a myofibroblastic origin. IM diagnosis is often made difficult by the predominance of small primitive spindle cells over myofibrobasts and the presence of intravascular growth. Genetic information is scarce, with only one karyotyped case. Here we describe a case of solitary IM discovered at birth in an otherwise healthy girl. The tumor was well circumscribed, arranged in nodules and made up of ovoid cells without atypia, in a myxoid background. Immunohistochemical evaluation indicated a myofibroblastic differentiation. The cytogenetic and fluorescence in situ hybridization analyses revealed an abnormal chromosome 9, derived from an unbalanced whole-arm translocation between chromosomes 9 and 16. On both chromosomes, the breakpoints were located in the pericentric heterochromatic region. This clonal abnormality has not been reported in other tumors and is different from the chromosome 6q deletion reported in the single previous reported IM karyotype.     

Fine-needle aspiration biopsy: Pitfalls in the diagnosis of spindle-cell lesions

Seven cases of spindle-cell proliferations in which fine-needle aspiration biopsy (FNAB) did not correlate with subsequent histology are presented. Three cases were considered low-grade sarcoma, one a dermatofibrosarcoma protuberans (DFSP), one a spindle-cell tumor with malignancy not excluded, and one a rhab-domyosarcoma vs. a fibrosarcoma. Two of the these three were histologically nodular fasciitis and one an inflammatory pseudotumor. Two cases were diagnosed cytologically as fibromatosis or nodular fasciitis (NF). One of these histologically was an intramuscular hemangioma, the other a DESP. The last two cases were diagnosed by FNAB as spindle-cell lesion, undetermined if benign or malignant, and malignant fibrous histiocytoma (MFH). Histologically both of these case were leiomyosarcoma. The cyto-logic features of each case, differential diagnosis, and potential pitfalls are discussed. In the evaluation of FNAB smears dominated by spindle cells, cellullarity, individual cells and cell patterns,and background stromal features coupled with a precise clinical history may allow a narrow differential diagnosis with a focus on whether the lesion is benign or malignant. Caution is warranted in the exact classification of spindle-cell tumors from FNAB as this may have a major impact on patient management. © 1994 Wiley-Liss, Inc.     

Extraskeletal myxoid chondrosarcoma: multimodal diagnosis and identification of a new cytogenetic subgroup characterized by t(9;17)(q22;q11)

Extraskeletal myxoid chondrosarcoma is a rare malignant soft tissue tumour that can be difficult to diagnose correctly, especially preoperatively. We describe four cases of extraskeletal myxoid chondrosarcoma of the extremities diagnosed by a multimodal approach. The cytological examination of fine-needle aspirates showed small and round, mildly pleomorphic cells lying in sheets and cords, but also dispersed within a myxoid and metachromatic intercellular substance. Histological, electron microscopic and immunocytochemical examination also yielded findings compatible with the diagnosis of extraskeletal myxoid chondrosarcoma. Cytogenetic analysis demonstrated a t(9;22)(q22;q12) in two tumours and a t(9;17)(q22;q11) in the third and fourth. The translocation t(9;22)(q22;q12) has been described repeatedly in extraskeletal myxoid chondrosarcoma but never in other tumours; hence, the detection of this pathognomonic chromosome abnormality in short-term cultured cells from fine-needle aspirates verified the diagnosis in two of the cases. The t(9;17)(q22;q11) found in the last two cases probably represents a new cytogenetic subgroup of extraskeletal myxoid chondrosarcoma as it, too, is unknown in other contexts. The multimodal approach taken in these four cases enabled a definite diagnosis of a rare malignant tumour whose cytological and histological features alone are usually not sufficiently distinct to rule out other differential diagnostic possibilities. Received: 16 March 1999 / Accepted: 1 June 1999     

软组织平滑肌肉瘤中p16基因的甲基化检测

目的 探讨软组织平滑肌肉瘤（ＬＭＳ）中p16基因ＩＮＫ４Ａ的甲基化状态及其与p16表达的关系。方法 应用ＭＳＰ法检测３８例软组织平滑肌肉瘤,１０例平滑肌瘤及５例正常平滑肌组织中p16基因ＩＮＫ４Ａ的甲基化状态,用免疫组织化学ＳＰ方法检测p16蛋白表达情况。结果 ３８例ＬＭＳ中９例发生异常甲基化,异常甲基化率为２３.7%（９／３８）。其中,７例p16蛋白表达阴性,２例p16蛋白弱阳性,在p16蛋白表达阴性的ＬＭＳ中,异常甲基化率为５０％（７／１４）。结论 p16基因第一外显子启动子区５‘CpG岛的异常甲基化是导致p16基因失活、蛋白缺如的重要基因外机制,并可能参与肿瘤的发生。     

Intramuscular mixed tumour with clonal chromosomal changes

 A case of an entirely intramuscular mixed tumour occurred in an 82-year-old man, who presented with a large mass in the region of the right triceps muscle. A lobulated tumour was seen, with plump, round epithelioid cells embedded in a chondromyxoid stroma. Immunohistochemical examination showed strong S100 protein and pancytokeratin positivity in most of the tumour cells. Cytogenetic analysis revealed complex clonal chromosomal changes: 47, XY, +i (2) (q10), –15, der (17)t(15;17) (q11; p12), +r. Differential diagnosis against extraskeletal myxoid chondrosarcoma (EMC) may be problematic, particularly in an incisional biopsy. Chromosomal analysis can be very helpful in solving this problem, since EMC shows a specific reciprocal chromosome translocation characterised as t (9;22) (q22–31) (q11–12). Received: 8 July 1998 / Accepted: 22 September 1998     

Soft tissue pseudotumor following intramuscular injection of “DPT”: a pitfall in magnetic resonance imaging

We report the time-dependent magnetic resonance imaging (MRI) changes that resulted from an intramuscular injection of a commonly-used pediatric sedation regimen (DPT). These changes at the site of injection consist of a focal abnormality characterized by a slight increase in signal intensity on T1 weighted images and markedly increased signal intensity on T2 weighted images. Alterations in signal are detectable almost immediately after the injection and progress over the first 31 hours. This abnormality, which could be mistaken for real disease, persists up to 36 days following injection.     

互动式头针结合镜像疗法对脑卒中软瘫期上肢功能障碍的康复疗效

目的：探索脑卒中患者促进上肢运动功能恢复中头针与镜像疗法联合应用的临床价值。方法：选取株洲市中心医院2021年8月至2022年11月期间收治的60例脑卒中后上肢功能障碍患者,以随机分组的方式分为两组,每组30例。其中常规康复训练联合镜像治疗纳入对照组,在对照组基础上增加头针治疗纳入观察组。在治疗4周后,比较两组患者临床治疗有效性、Fugl–meyer运动功能评定量表（FMA）上肢部分评分以及Brunnstrom分期。结果：两组患者治疗后FMA评分均高于治疗前,且观察组患者治疗后FMA评分高于对照组,差异具有统计学意义（P<0.05）。观察组患者治疗后上肢Brunnstrom运动功能分期结果优于对照组,差异具有统计学意义（Z=–2.101,P <0.05）。观察组患者治疗后手Brunnstrom运动功能分期结果优于对照组,差异具有统计学意义（Z=–2.152,P <0.05）。结论：在恢复早期,头针、镜像疗法与常规康复训练有效结合,对脑卒中患者软瘫期上肢运动功能恢复具有积极作用。     

Soft Drink Consumption and Mental Health in Adolescents: A Longitudinal Examination

PurposePrevious studies showed associations between soft drink consumption and mental health problems in adolescents, but the direction of these effects is unknown. This study examines the hypotheses that soft drink consumption predicts aggression and depressive symptoms over time and that these mental health problems predict soft drink consumption.MethodsInterviews were conducted with 5,147 children and their caregivers from three sites at child ages 11, 13, and 16. At each time point, youth reported on their frequency of consuming soft drinks, aggressive behavior, and depressive symptoms. An autoregressive cross-lagged path model tested reciprocal relationships between soft drink consumption, aggressive behavior, and depressive symptoms over time.ResultsMore frequent consumption of soft drinks was associated with more aggressive behavior at each time point and depressive symptoms at ages 11 and 13 (r = .04 to .18, p ≤ .002). After adjusting for covariates and stability of each behavior over time, soft drink consumption at ages 11 and 13 predicted more aggressive behavior at the next time point (β = .08 and .06, p < .001). Aggressive behavior at age 13 also predicted more soft drink consumption at age 16 (β = .06, p = .002). Soft drink consumption at age 13 predicted fewer depressive symptoms (β = ?.04, p = .007), but depressive symptoms did not predict soft drink consumption.ConclusionsMore frequent consumption of soft drinks may contribute to aggressive behavior in adolescents over time; there is some support for reciprocal relationships. There is no evidence for soft drink consumption contributing to adolescents' depression. Future research should examine longitudinal effects over shorter intervals.     

软组织肉瘤免疫组织化学研究的意义

本文旨在研究免疫组织化学在软组织肉瘤诊断、鉴别诊断的意义。判断肿瘤增生程度及预防 ,进展及治疗前景。