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Shahid Ahmed MD PhD FRCPC Sukanya Pati MD Duc Le MD MSc FRCPC Kamal Haider MD Nayyar Iqbal MD FRCP 《Journal of surgical oncology》2020,122(2):144-154
Over the past two decades, gene expression profiling of breast cancer has emerged as an important tool in early-stage breast cancer management. The approach provides important information on underlying biological mechanisms, breast cancer classification, future risk potential of developing recurrent metastatic disease, and provides beneficial clues for adjuvant chemotherapy in hormone receptor (HR) positive breast cancer. Of the commercially available genomic tests for breast cancer, the prognostic and predictive value of 21-gene recurrence score tests have been validated using both retrospective data and prospective clinical trials. In this paper, we reviewed the current evidence on 21-gene expression profiles for HR-positive HER2-negative early-stage breast cancer management. We show that current evidence supports endocrine therapy alone as an appropriate adjuvant systemic therapy for approximately 70% of women with HR-positive, HER2-negative, node-negative breast cancer. Evolving evidence also suggests that 21-gene recurrence scores have predictive values for node-positive breast cancer and that chemotherapy can be avoided in more than half of women with nodes 1 to 3 positive HR-positive breast cancer. Furthermore, retrospective data also supports the predictive role of 21-gene recurrence scores for adjuvant radiation therapy. A prospective trial in this area is ongoing. 相似文献
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Katrice M. Karanfilian MD Monica N. Valentin MD Rajendra Kapila MD Chinmoy Bhate MD Mahnaz Fatahzadeh DMD MSD FRCP Edin Giuseppe Micali MD FRCP Edin Robert A. Schwartz MD MPH DSc FRCP 《International journal of dermatology》2020,59(10):1185-1190
Cervicofacial actinomycosis is an uncommon, chronic, suppurative, and granulomatous bacterial infection. It is often of dental origin and tends to mimic other dental infections, granulomatous disorders, and cancers. The initial diagnostic workup, predicated upon imaging and tissue biopsies, is frequently nonspecific. A definitive diagnosis is usually rendered only after surgical excision and histologic examination of the cervicofacial mass. We propose a classification of three stages: localized infection without sinus involvement, localized infection with sinus involvement, and disseminated infection, to facilitate recognition, diagnosis, and early aggressive treatment. Untreated infection may be life-threatening. Therapy may require long-term antibiotics; however, many cases may also necessitate complete surgical excision. 相似文献
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Eman Hamid MD PhD Biniyam A. Ayele MD Daniel Gams Massi MD Samia Ben Sassi MD Houyam Tibar MD Emmanuel Epenge Djonga MD Sarah Misbah El-Sadig MD Wahiba AMER EL KHEDOUD MD Julien Razafimahefa MSc Ange Eric Kouame-Assouan MD Djibrilla Ben-Adji MD Yilédoma Thierry Modeste Lengané MD Abdu Kisekka Musubire MD Muhyadin Hassan Mohamed MSc Tiwonge Elisa Phiri MBBS FCN Nsengiyumva Nestor MD Wael Abdulgader Alwahchi MSc Saara Ndinelago Neshuku MBChB FCN MMed Cassandra Ocampo MD Foksouna Sakadi MD Moulid Ali Maidal MBBS Gift Wilson Ngwende MBChB MMed FCP Juzor Hooker MB ChB MMed DCN FCP Kigocha Okeng'o MD Med MSc Augustina Charway-Felli MD PhD FGCPS Masharip Atadzhanov PhD FRCP Jonathan Carr MBChB PhD Njideka U. Okubadejo MBChB FMCP FAAN Ali Shalash MD PhD 《Movement disorders》2021,36(10):2393-2407
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David J. Seiffge MD Gian Marco De Marchis MD Masatoshi Koga MD PhD Maurizio Paciaroni MD Duncan Wilson PhD Manuel Cappellari MD Kosmas Macha MD Georgios Tsivgoulis MD Gareth Ambler PhD Shoji Arihiro MD Leo H. Bonati MD Bruno Bonetti MD Bernd Kallmünzer MD Keith W. Muir MD PhD Paolo Bovi MD Henrik Gensicke MD Manabu Inoue MD Stefan Schwab MD Shadi Yaghi MD Martin M. Brown MD PhD FRCP Philippe Lyrer MD Masahito Takagi MD PhD Monica Acciarrese MD Hans Rolf Jager MD FRCP Alexandros A. Polymeris MD Kazunori Toyoda MD PhD Michele Venti MD Christopher Traenka MD Hiroshi Yamagami MD PhD Andrea Alberti MD Sohei Yoshimura MD PhD Valeria Caso MD Stefan T. Engelter MD David J. Werring MD PhD FRCP the RAF RAF-DOAC CROMIS- SAMURAI NOACISP Erlangen and Verona registry collaborators 《Annals of neurology》2020,87(5):677-687
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Coronavirus disease 2019 has created unprecedented challenges for amyotrophic lateral sclerosis (ALS) clinical care and research in the United States. Traditional evaluations for making an ALS diagnosis, measuring progression, and planning interventions rely on in-person visits that may now be unsafe or impossible. Evidence- and experience-based treatment options, such as multidisciplinary team care, feeding tubes, wheelchairs, home health, and hospice, have become more difficult to obtain and in some places are unavailable. In addition, the pandemic has impacted ALS clinical trials by impairing the ability to obtain measurements for trial eligibility, to monitor safety and efficacy outcomes, and to dispense study drug, as these also often rely on in-person visits. We review opportunities for overcoming some of these challenges through telemedicine and novel measurements. These can reoptimize ALS care and research in the current setting and during future events that may limit travel and face-to-face interactions. 相似文献
8.
Small fiber neuropathy (SFN) is being recognized with increasing frequency in neuromuscular practice due to improved diagnostic techniques. Although there are some common etiologies, up to one-third of cases are considered idiopathic. In recent years, several disorders have unexpectedly been reported in association with SFN, on clinical grounds and complementary investigations, including quantitative sensory testing, intraepidermal nerve fiber density and confocal corneal microscopy. Knowledge of these disorders is important in clinical practice as increased awareness enables prompt diagnosis of SFN in these settings and early optimal therapeutic management of affected patients. Furthermore, these new developments may lead to a better understanding of the pathophysiologic mechanisms underlying SFN in these different disorders as well as, in some cases, an expanded spectrum of affected organs and systems. This article reviews these reported associations, their possible pathophysiologic bases, and the potential resulting management implications. 相似文献
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Bas C. Stunnenberg MD Samantha LoRusso MD W. David Arnold MD Richard J. Barohn MD Stephen C. Cannon MD PhD Bertrand Fontaine MD PhD Robert C. Griggs MD Michael G. Hanna FRCP FMedSci Emma Matthews MRCP PhD Giovanni Meola MD PhD Valeria A. Sansone MD PhD Jaya R. Trivedi MD Baziel G.M. van Engelen MD PhD Savine Vicart MD Jeffrey M. Statland MD 《Muscle & nerve》2020,62(4):430-444
The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation. In the absence of genetic confirmation, the diagnosis is supported by detailed electrophysiological testing, exclusion of other related disorders, and analysis of a variant of uncertain significance if present. Symptomatic treatment with a sodium channel blocker, such as mexiletine, is usually the first step in management, as well as educating patients about potential anesthetic complications. 相似文献