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https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#1
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27920414/morbidity-and-mortality-and-predictors-of-outcome-following-hepatectomy-at-a-saudi-tertiary-care-center
#2
Faisal Al-Alem, Rafif Essam Mattar, Ola Abdelmonem Fadl, Abdulsalam Alsharabi, Faisal Al-Saif, Mazen Hassanain
BACKGROUND: Hepatic resection is a major surgical procedure. Data on outcomes of hepatectomy in Saudi Arabia are scarce. OBJECTIVE: To measure morbidity and mortality and assess predictors of outcome after hepatectomy. DESIGN: Descriptive study. SETTING: Tertiary care center in Saudi Arabia with well established hepatobiliary surgery unit. PATIENTS AND METHODS: All patients undergoing liver resection in our institute during 2006-2014...
November 2016: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/27919347/prevalence-clinical-features-and-prognosis-of-patients-with-extremely-low-high-density-lipoprotein-cholesterol
#3
Hayato Tada, Masa-Aki Kawashiri, Tetsuo Konno, Atsushi Nohara, Akihiro Inazu, Hiroshi Mabuchi, Masakazu Yamagishi, Kenshi Hayashi
BACKGROUND: Little data exist on the clinical features of patients with an extremely low level of high-density lipoprotein (HDL) cholesterol (<20 mg/dL). OBJECTIVE: To assess the clinical characteristics of Japanese patients with extremely low HDL cholesterol levels. METHODS: In this observational study of 429 patients with extremely low HDL cholesterol levels among 43,368 subjects whose HDL cholesterol was measured for any reason at Kanazawa University Hospital from April 2004 to March 2014, we investigated the presence of coronary artery disease, chronic kidney disease, the potential causes of reduced HDL cholesterol, their prognosis, and the cause of death...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27918348/ewing-sarcoma-of-the-bone-with-ews-fli1-translocation-after-successful-treatment-of-primary-osteosarcoma
#4
Noriko Yodoya, Shotaro Iwamoto, Akihiko Matsumine, Eiichi Azuma, Hidemi Toyoda, Yoshihiro Miura, Kaname Nakatani, Hiroshi Imai, Masahiro Hirayama, Yoshihiro Komada
Although prognosis in patients with localized osteosarcoma has been dramatically improved by the introduction of multiple chemotherapy agents known as combination chemotherapy, there is growing concern about the development of secondary malignant neoplasms. We report the case of a 13-year-old girl in whom the diagnosis of Ewing sarcoma of bone localized on the shaft of left femur was made 2 years after successful treatment without radiotherapy for osteosarcoma of right proximal femur. EWS-FLI1 fusion gene was detected by reverse transcriptase-polymerase chain reaction...
December 1, 2016: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/27916439/adult-supratentorial-primitive-neuroectodermal-tumour-presenting-as-intracranial-haemorrhage-case-report
#5
Sean P Black-Tiong, Simon J I Sandler, Sophia Otto, Adam J Wells
Primitive neuroectodermal tumours (PNET) are highly malignant tumours with an aggressive clinical behaviour. Commonly seen in children, they are uncommon in the adult population, and rare in the supratentorial location. Adult supratentorial PNETs (ST-PNET) typically present with symptoms relating to raised intracranial pressure, seizures, or focal neurological deficits. Presentation with intracranial haemorrhage has been reported only twice before in the literature, one of which was fatal. We report the case of intracranial haemorrhage secondary to ST-PNET in a young adult and her immediate management...
December 1, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27913492/frontline-strategy-for-follicular-lymphoma-are-we-ready-to-abandon-chemotherapy
#6
Nathan Fowler
Chemotherapy combinations have been the backbone of therapy for follicular lymphoma, and are associated with high initial response rates. Unfortunately, toxicity and secondary malignancies remain concerns, and most advanced-stage patients still relapse within 5 years, regardless of the regimen. Advances in the understanding of lymphoma biology have resulted in a new generation of noncytotoxic therapeutics with significant activity in follicular lymphoma. Recent studies exploring biological and targeted combinations in the frontline have shown promise, with response rates similar to chemotherapy...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27911674/cross-sectional-imaging-anatomy-and-pathologic-conditions-affecting-thoracic-nerves
#7
Kristopher W Cummings, Sreevathsan Sridhar, Matthew S Parsons, Cylen Javidan-Nejad, Sanjeev Bhalla
While in many cases they are not directly visualized, awareness of the thoracic nerves and their courses at cross-sectional imaging is important for radiologists. An understanding of the normal function of each nerve is important, as many patients present with neurologic signs and symptoms that can be used to reinforce search patterns for disease and detection of supportive radiologic abnormalities. In the case of primary neoplasms, understanding the expected presence of a nerve in the location of a mass can enhance and improve the accuracy of differential diagnoses...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27910166/anchored-multiplex-pcr-for-targeted-next-generation-sequencing-reveals-recurrent-and-novel-usp6-fusions-and-upregulation-of-usp6-expression-in-aneurysmal-bone-cyst
#8
Natalya V Guseva, Omar Jaber, Munir R Tanas, Aaron A Stence, Ramakrishna Sompallae, Jenna Schade, Allison N Fillman, Benjamin J Miller, Aaron D Bossler, Deqin Ma
Primary aneurysmal bone cyst (ABC) is a neoplastic process due to recurrent translocations involving the USP6 gene. By fluorescence in situ hybridization, up to 69% of primary ABCs harbored USP6 translocations; no USP6 translocation was found in secondary ABC or giant cell tumor of bone (GCT). GCT can recur locally, metastasize to the lungs in some cases, and rarely undergo malignant transformation. Differentiating primary ABC from its mimics is important for treatment and prognosis. We evaluated USP6 fusion and expression in 13 cases of primary and 1 case of secondary ABC, and 9 cases of GCT using nucleic acid extracted from formalin-fixed, paraffin-embedded tissue and a next generation sequencing (NGS)-based assay...
November 7, 2016: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/27909635/secondary-neuroendocrine-carcinoma-following-high-dose-radiotherapy-for-head-and-neck-cancer-report-of-two-cases
#9
Amandeep S Taggar, Roderick Simpson, Desiree Hao, Marc Webster, Moosa Khalil, John Lysack, David Skarsgard
Patients treated with radiation have an increased risk of developing second cancers, of which carcinomas, sarcomas, and hematological malignancies have most commonly been reported. Neuroendocrine carcinomas (NEC) are rarely reported in patients previously treated with radiation. Two patients, who had successfully undergone chemoradiotherapy for head and neck cancers at our institution, developed secondary NEC within the radiation field more than five years after the treatment. Both patients underwent curative-intent treatment of secondary malignancies, one with chemotherapy, radiation and surgery (Case 1) and the other with chemotherapy and surgery (Case 2)...
October 25, 2016: Curēus
https://www.readbyqxmd.com/read/27908568/squamous-cell-carcinoma-presenting-with-trigeminal-anesthesia-an-uncommon-presentation-of-head-neck-cancer-with-unknown-primary
#10
Ameer T Shah, Walid I Dagher, Miriam A O'Leary, Richard O Wein
BACKGROUND: The differential diagnosis of facial anesthesia is vast. This may be secondary to trauma, neoplasm, both intracranial and extracranial, infection, and neurologic disease. When evaluating a patient with isolated facial anesthesia, the head and neck surgeon often thinks of adenoid cystic carcinoma, which has a propensity for perineural invasion and spread. When one thinks of head and neck squamous cell carcinoma with or without unknown primary, the typical presentation involves dysphagia, odynophagia, weight loss, hoarseness, or more commonly, a neck mass...
November 23, 2016: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/27904739/review-of-siltuximab-in-the-treatment-of-multicentric-castleman-s-disease
#11
REVIEW
Shayna Sarosiek, Ruchit Shah, Nikhil C Munshi
Castleman's disease (CD) is a rare lymphoproliferative disorder that has multiple histologic patterns, as well as two distinct clinical forms: unicentric or multicentric. Multicentric Castleman's disease (MCD) may have mild symptoms in some cases, but in others it can progress to severe pancytopenia, life-threatening infection, secondary malignancy, multiorgan failure, or death. Recent research has determined that the etiology of the disease signs and symptoms is related to elevated cytokines, including interleukin 6 (IL-6)...
December 2016: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/27903792/clinical-effectiveness-of-bevacizumab-in-patients-with-recurrent-brain-tumours-a-population-based-evaluation
#12
REVIEW
Mário L de Lemos, Adeline Markarian, Esther Chan, Kimberly Schaff, Susan Walisser
BACKGROUND: Bevacizumab is an antiangiogenic agent active in patients with recurrent malignant gliomas. However, evidence for its clinical efficacy is relatively limited so that bevacizumab is approved for this indication in Canada and the United States, but not in the European Union. We reviewed the effectiveness of bevacizumab in patients with recurrent brain tumour using a large population database. METHODS: This was a retrospective, multicentre, study conducted at the BC Cancer Agency, a public cancer care organisation for the residents of the Canadian province of British Columbia...
November 30, 2016: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/27903646/whole-transcriptome-sequencing-identified-a-distinct-subtype-of-acute-lymphoblastic-leukemia-with-predominant-genomic-abnormalities-of-ep300-and-crebbp
#13
Maoxiang Qian, Hui Zhang, Shirley Kow-Yin Kham, Shuguang Liu, Chuang Jiang, Xujie Zhao, Yi Lu, Charnise Goodings, Ting-Nien Lin, Ranran Zhang, Takaya Moriyama, Zhaohong Yin, Zhenhua Li, Thuan Chong Quah, Hany Ariffin, Ah Moy Tan, Shuhong Shen, Deepa Bhojwani, Shaoyan Hu, Suning Chen, Huyong Zheng, Ching-Hon Pui, Allen Eng-Juh Yeoh, Jun J Yang
Chromosomal translocations are a genomic hallmark of many hematologic malignancies. Often as initiating events, these structural abnormalities result in fusion proteins involving transcription factors important for hematopoietic differentiation and/or signaling molecules regulating cell proliferation and cell cycle. In contrast, epigenetic regulator genes are more frequently targeted by somatic sequence mutations, possibly as secondary events to further potentiate leukemogenesis. Through comprehensive whole transcriptome sequencing of 231 children with acute lymphoblastic leukemia (ALL), we identified 58 putative functional and predominant fusion genes in 54...
November 30, 2016: Genome Research
https://www.readbyqxmd.com/read/27903151/how-to-manage-the-obese-patient-with-cancer
#14
Andrew G Renehan, Michelle Harvie, Ramsey I Cutress, Michael Leitzmann, Tobias Pischon, Sacha Howell, Anthony Howell
Purpose Obesity (body mass index [BMI] ≥ 30 kg/m(2)) is common among patients with cancer. We reviewed management issues in the obese patient with cancer, focusing on how obesity influences treatment selection (including chemotherapy dosing), affects chemotherapy toxicity and surgical complications, and might be a treatment effect modifier. Methods The majority of evidence is drawn from observational studies and secondary analyses of trial data, typically analyzed in N × 3 BMI categories (normal weight, overweight, and obese) matrix structures...
December 10, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/27902998/autoimmune-cytopenias-diagnosis-management
#15
Christian P Nixon, Joseph D Sweeney
The autoimmune cytopenias are a related group of disorders in which differentiated hematopoietic cells are destroyed by the immune system. Single lineage disease is characterized by the production of autoantibodies against red cells (autoimmune hemolytic anemia [AIHA]), platelets (autoimmune thrombocytopenia [ITP]) and neutrophils (autoimmune neutropenia [AIN]) whereas multilineage disease may include various combinations of these conditions. Central to the genesis of this disease is the breakdown of central and/or peripheral tolerance, and the subsequent production of autoantibodies by both tissue and circulating self-reactive B lymphocytes with support from T helper lymphocytes...
December 1, 2016: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/27901188/assessment-of-actions-for-breast-cancer-early-detection-in-brazil-using-process-indicators-a-descriptive-study-with-sismama-data-2010-2011
#16
Jeane Glaucia Tomazelli, Arn Migowski, Caroline Madalena Ribeiro, Mônica de Assis, Dolores Maria Franco de Abreu
OBJECTIVE: to assess actions for breast cancer early detection in the Brazilian National Health System using process indicators. METHODS: this is a descriptive study with secondary data from the Breast Cancer Information System (Sismama), for the period from 2010 to 2011. RESULTS: 5,759,503 mammograms and 44,892 histopathological tests were assessed; screening mammography was predominant (96.2%), with annual interval (44.6%) and 51.2% of the patients were in the recommended age group (50 to 69 years); mammogram report was emitted in 30 days in 61...
November 28, 2016: Epidemiologia e Servicos de Saude: Revista do Sistema Unico de Saude do Brasil
https://www.readbyqxmd.com/read/27900227/urachal-cyst-causing-small-bowel-obstruction-in-an-adult-with-a-virgin-abdomen
#17
Michael P O'Leary, Zane W Ashman, David S Plurad, Dennis Y Kim
Introduction. A patent urachus is a rare congenital or acquired pathology, which can lead to complications later in life. We describe a case of urachal cystitis as the etiology of small bowel obstruction in an adult without prior intra-abdominal surgery. Case Report. A 64-year-old male presented to the acute care surgery team with a 5-day history of right lower quadrant abdominal pain, distention, nausea, and vomiting. He had a two-month history of urinary retention and his past medical history was significant for benign prostate hyperplasia...
2016: Case Reports in Surgery
https://www.readbyqxmd.com/read/27900023/synchronous-papillary-urothelial-carcinoma-of-the-bladder-and-squamous-cell-carcinoma-with-sarcomatoid-differentiation-a-case-report
#18
Mahizer Yaldiz, Nur Cihan Cosansu, Berna Solak, Zeynep Kahyaoglu, Mustafa Teoman Erdem
The incidence rate of multiple primary tumors is 37% in all types of cancer. A patient diagnosed with primary cancer is 1.29 times more likely to develop an additional primary cancer when compared with the general population. Furthermore, in patients diagnosed with primary cancer, the possibility of a secondary malignancy in the same or different organ is increased. Following the identification of a secondary tumor, the risk of relapse or metastasis must be considered. The present study reports the case of a 76-year-old man who was admitted to Sakarya University Training and Research Hospital (Sakarya, Turkey) with swelling of the head, which had been apparent for 15 days...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27899849/statin-therapy-review-of-safety-and-potential-side-effects
#19
REVIEW
Satish Ramkumar, Ajay Raghunath, Sudhakshini Raghunath
BACKGROUND: Hydroxymethyl glutaryl coenzyme A reductase inhibitors, commonly called statins, are some of the most commonly prescribed medications worldwide. Evidence suggests that statin therapy has significant mortality and morbidity benefit for both primary and secondary prevention from cardiovascular disease. Nonetheless, concern has been expressed regarding the adverse effects of long term statin use. The purpose of this article was to review the current medical literature regarding the safety of statins...
November 2016: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/27899386/thyroid-abscess-in-case-of-pre-b-acute-lymphoblastic-leukaemia-a-rare-presentation
#20
Siddhesh Arun Kalantri, Saikat Datta, Dhritiman Maitra, Maitreyee Bhattacharyya
Thyroid abscess is a very rare clinical condition. It usually occurs in immunocompromised individuals or those with underlying malignancy. We report a case of multiple thyroid abscesses in the patient with Pre B acute lymphoblastic leukaemia which developed secondary to hematogenous spread from pyomyositis of right calf muscle. The patient developed sepsis-associated disseminated intravascular coagulation, which got resolved after thyroidectomy. He became afebrile after surgical intervention. Unfortunately, all the cultures were negative...
November 29, 2016: BMJ Case Reports
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