Pleomorphic mastocytoma associated with loss of chromosome 5, PDGFRA,and HRAS mutations: A case of cutaneous mastocytosis with severe atypia and indolent behavior

A 21‐year‐old female presented with a 5‐year history of an erythematous papule on her right breast. The biopsy showed a dense, dermal nodular infiltrate, extending focally into the subcutaneous tissue. The infiltrate was composed predominantly of pleomorphic cells with bi‐lobed, multi‐lobed, horseshoe, or ring‐shaped nuclei. There was a smaller subset of monomorphous cells characterized by a round, reniform, or elongated single‐lobed nucleus. Accompanying cells included few foamy histiocytes, lymphocytes, and numerous scattered eosinophils. No necrosis, vascular invasion, or ulceration was present. The pleomorphic and monomorphic granular cells were positive for Giemsa stain as well as for tryptase, CD117, CD68, CD2, and CD30 immunohistochemistry and negative for S100, CD1a, myeloperoxidase, lysozyme, and CD56. Clinical examination was negative for any additional similar lesions and serum tryptase was within normal limits. The bone marrow was not biopsied. In addition, fluorescent in situ hybridization revealed multiple clones with loss of number 5 chromosome and PDGFRA and HRAS mutations. The lesion did not recur or progress after a 6‐year clinical follow‐up. To our full knowledge, we report the first case of pleomorphic mastocytoma with loss of chromosome 5 and PDGFRA and HRAS mutations.     

不典型帕金森患者皮质脊髓束损害的电生理特点——三重刺激技术研究初探

目的 分析三重刺激技术（TST）对评价不典型帕金森患者皮质脊髓束损害的临床应用价值。方法 病例组为2009年7月在北京协和医院就诊的6例不典型帕金森患者（多系统萎缩5例，进行性核上性麻痹1例），对照组为12例年龄匹配的正常人或非神经系统疾病患者。对受试者进行右上肢小指展肌TST和传统运动诱发电位（MEP）测定，分析TST波幅比（TST测试/TST对照）、中枢运动传导时间（CMCT）、静息运动阈值（RMT）、MEP潜伏期特点。对上述电生理指标进行与病程和年龄的相关性分析。结果 与对照组相比，不典型帕金森患者的TST波幅比明显降低[（40.7%±18.6%） vs （96.8%±3.0%），P＝0.001]，RMT明显升高[（63.3±5.2） vs （48.6±8.4），P＝0.001]，MEP潜伏期和CMCT在两组间差异无统计学意义（P＞0.05）。TST和传统MEP相关参数与病程或年龄之间均未见显著性相关，但是TST波幅比与病程呈现负相关趋势。结论 TST较传统MEP能更好地评价不典型帕金森患者的皮质脊髓束损害。     

Pre-existing mental health disorders and pregnancy

Mental health conditions are independent risk factors for poor obstetric and neonatal outcomes therefore obstetricians need to be able to manage them well. This review will summarize the management of pre-existing mental health disorders in pregnancy. Explanations will be given as to which women are managed in primary care for their mental health conditions and which women are managed in specialist Perinatal Mental Health Services. When women should be referred to perinatal mental health services is described. The article provides recommendations on the obstetric management of these women as well as information on psychotropic medication in pregnancy and lactation.     

Seizure as the Presenting Symptom for Atypical Hemolytic Uremic Syndrome

Background

Atypical hemolytic uremic syndrome (aHUS) is a complement-mediated disease manifesting in thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury. It has a higher incidence of extrarenal manifestations, including central nervous system findings like seizure or stroke, pancreatitis, and cardiac manifestations.

Risk for Upgrade to Malignancy After Breast Core Needle Biopsy Diagnosis of Lobular Neoplasia: A Systematic Review and Meta-Analysis

PurposeLobular neoplasia (LN) detected on breast core needle biopsy is frequently managed with surgical excision because of concern for undersampled malignancy. The authors performed a systematic review and meta-analysis to estimate the risk for upgrade to malignancy in the setting of imaging-concordant classic LN diagnosed on core biopsy.MethodsPubMed and Embase were searched for original articles published from 1998 to 2020 that reported rates of upgrade to malignancy for classic LN, including atypical lobular hyperplasia (ALH) and classic lobular carcinoma in situ (LCIS). Two reviewers extracted study data and assessed the following quality criteria: exclusion of variant LCIS, exclusion of imaging-discordant lesions, and outcome reporting for ≥70% of lesions. For studies meeting all criteria, pooled risks for upgrade to any malignancy (invasive carcinoma or ductal carcinoma in situ) and invasive malignancy for all LN, ALH, and LCIS were estimated using random-effects models.ResultsFor 65 full-text articles included in the review, the risk for upgrade to any malignancy ranged from 0% to 45%. Among the 16 studies that met all quality criteria for the meta-analysis, pooled risks for upgrade to any malignancy were 3.1% (95% confidence interval [CI], 1.8%-5.2%) for all LN, 2.5% (95% CI, 1.6%-3.9%) for ALH, and 5.8% (95% CI, 2.9%-11.3%) for LCIS. Risks for upgrade to invasive malignancy were 1.3% (95% CI, 0.7%-2.4%) for all LN, 0.4% (95% CI, 0.0%-4.2%) for ALH, and 3.5% (95% CI, 2.0%-5.9%) for LCIS.ConclusionsThe risk for upgrade to malignancy for LN found on breast biopsy is low. Imaging surveillance can likely be offered as an alternative to surgical management for LN, particularly for ALH.     

Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome

Clinical genomic diagnosis is unfamiliar to many dermatologists. Limited knowledge of bioinformatics has limited the use of the next generation sequencing method in dermatological clinics. We evaluated the usefulness of whole genome sequencing as a diagnostic approach to inherited dermatological disease. Here, we present our experience with two female siblings with atypical familial generalized lipodystrophy with diabetes mellitus and dyslipidemia. Whole genome sequencing was performed to diagnose the inherited disease. We compared control genomic databases using the Exome Aggregation Consortium, and filtered false‐positive calls with the segmental duplication, non‐flagged single nucleotide variants and COSMIC mutation databases, and applied the prediction tools of SIFT and PolyPhen2. The two siblings who presented with generalized lipodystrophy were diagnosed with an atypical progeroid syndrome with a p.D136H mutation in the LMNA gene (NM_005572). We diagnosed a familial atypical progeroid syndrome using whole genome sequencing. In this paper, we present our experience with whole genome sequencing and demonstrate that it can provide useful information for clinical genomic diagnosis of inherited diseases with atypical clinical features, such as atypical progeroid syndrome.     

Phenotypic and genetic features of enteropathogenic Escherichia coli isolates from diarrheal children in the Ribeirão Preto metropolitan area,São Paulo State,Brazil

This study was designed to characterize a collection of 60 enteropathogenic Escherichia coli (EPEC) isolates from diarrheic feces of patients in the Ribeirão Preto metropolitan area regarding different phenotypic and molecular features. We examined antibiotic resistance profiles, occurrence of virulence factors‐encoding genes, intimin subtypes and the correlation of serotypes among typical (tEPEC) and atypical (aEPEC) EPEC isolates. The results demonstrated that atypical EPEC was more heterogeneous than typical EPEC concerning the characteristics investigated and 45.2% do not belong to classical EPEC serogroups. Intimin subtype β was the most frequent among the EPEC isolates (46.7%), being detected in both tEPEC and aEPEC. The majority of aEPEC isolates presented localized adherence‐like (LAL) pattern to HEp‐2 cells, although aEPEC isolates displaying diffuse adherence (DA) or non‐adherent were also detected. High prevalence of antimicrobial resistance was found for ampicillin, cephalothin, sulfonamide and tetracycline. In general, tEPEC isolates were more resistant to the antimicrobials tested than aEPEC isolates.