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Diagnosis and treatment of

Maryam Abolhasani, Sareh Salarinejad, Mohammad Kazem Moslemi
INTRODUCTION: Ewing sarcoma/Primitive neuroectodermal tumor of the kidney (ES/PNET) is a member of Ewing's sarcoma family, occurring in young adults and has aggressive clinical behavior and poor prognosis. However, its discrimination from the renal cell carcinoma (RCC) is very difficult preoperatively. We present three cases of this rare disease that were managed in two academic centers. PRESENTATION OF CASES: Herein we report three cases of ES/PNET of the kidney, 2 young men complaining of right flank pain and gross hematuria and one young woman complaining of left subcostal pain...
October 18, 2016: International Journal of Surgery Case Reports
Samuel A Sakyi, Samuel Yaw Aboagye, Isaac Darko Otchere, Albert M Liao, Thomas G Caltagirone, Dorothy Yeboah-Manu
BACKGROUND: Buruli ulcer (BU) is a subcutaneous skin disease listed among the neglected tropical diseases by the World Health Organization (WHO). Early case detection and management is very important to reduce morbidity and the accompanied characteristic disfiguring nature of BU. Since diagnosis based on clinical evidence can lead to misdiagnosis, microbiological confirmation is essential to reduce abuse of drugs; since the anti-mycobacterial drugs are also used for TB treatment. The current WHO gold standard PCR method is expensive, requires infrastructure and expertise are usually not available at the peripheral centers where BU cases are managed...
October 2016: PLoS Neglected Tropical Diseases
Zhihong Hu, L Jeffrey Medeiros, Zi Chen, Weina Chen, Shaoying Li, Sergej N Konoplev, Xinyan Lu, Lan V Pham, Ken H Young, Wei Wang, Shimin Hu
MYC rearrangement in mantle cell lymphoma (MCL) is rare, and its clinicopathologic significance is not well defined. We report 17 cases of MCL with 8q24/MYC rearrangement, detected at the time of initial diagnosis of MCL in 10 patients and subsequently during the clinical course in 7 patients. There were 12 men and 5 women with a median age of 61 years (range, 49 to 81 y). Fourteen patients had lymphadenopathy (Ann Arbor stage III/IV), and 3 patients presented with a leukemic pattern without lymphadenopathy...
October 21, 2016: American Journal of Surgical Pathology
Joyce Hsu, Leo Jia, Darko Pucar, Hadyn Williams, Jayanth Keshavamurthy
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare form of preinvasive lung lesion associated with indolent carcinoid tumor formation. This disease is characterized by multiple small pulmonary nodules with low SUVmax on F-FDG PET. Biopsy and immunohistochemical staining for neuroendocrine markers confirm diagnosis. There is no consensus for treatment, which typically involves surgical excision or management of symptoms with steroid-based therapies. We report an unusual case of DIPNECH colocalizing with necrotizing granulomatous inflammation mimicking high-grade aggressive malignancy on FDG-PET and a typical case of DIPNECH for comparison with low FDG avidity...
October 21, 2016: Clinical Nuclear Medicine
Ofer Nathan Gofrit, Stephen Frank, Amichay Meirovitz, Hovav Nechushtan, Marina Orevi
AIM: Castrate-resistant prostate cancer (CRPC) often shows histological evidence of neuroendocrine differentiation (NED). To evaluate the extent of NED in patients with CRPC, we used PET/CT with Ga-[DOTA-Tyr]-octreotate (Ga-DOTA-TATE), a somatostatin analog that binds somatostatin receptor 2 with high affinity. This radiotracer is used in imaging of neuroendocrine tumors. METHODS: Twelve patients (mean age, 65 [SD, 12] years) with CRPC were studied. Their mean prostate-specific antigen level at scanning was 85...
October 21, 2016: Clinical Nuclear Medicine
F Bath-Hextall, S Nalubega, C Evans
BACKGROUND: Skin cancer incidence is increasing worldwide. This is an update of a previous review published in 2010 that identified only two studies and found that the needs and experiences of individuals with skin cancer were under-researched. OBJECTIVES: To undertake a qualitative systematic review of the needs and experiences of people with a diagnosis of skin cancer. METHODS: As an update of a previous review, the following databases were searched from 2010 to 30/11/15: CINAHL PsycINFO, MEDLINE and EMBASE...
October 24, 2016: British Journal of Dermatology
Laura Campbell-Sills, Peter P Roy-Byrne, Michelle G Craske, Alexander Bystritsky, Greer Sullivan, Murray B Stein
BACKGROUND: Many patients with anxiety disorders remain symptomatic after receiving evidence-based treatment, yet research on treatment-resistant anxiety is limited. We evaluated effects of cognitive behavioral therapy (CBT) on outcomes of patients with medication-resistant anxiety disorders using data from the Coordinated Anxiety Learning and Management (CALM) trial. METHODS: Primary care patients who met study entry criteria (including DSM-IV diagnosis of generalized anxiety disorder, panic disorder, posttraumatic stress disorder, or social anxiety disorder) despite ongoing pharmacotherapy of appropriate type, dose, and duration were classified as medication resistant (n = 227)...
October 24, 2016: Depression and Anxiety
Pavel Sumazin, Yidong Chen, Lisa R Treviño, Stephen F Sarabia, Oliver A Hampton, Kayuri Patel, Toni-Ann Mistretta, Barry Zorman, Patrick Thompson, Andras Heczey, Sarah Comerford, David A Wheeler, Murali Chintagumpala, Rebecka Meyers, Dinesh Rakheja, Milton J Finegold, Gail Tomlinson, D Williams Parsons, Dolores López-Terrada
Despite being the most common liver cancer in children, hepatoblastoma (HB) is a rare neoplasm. Consequently, few pre-treatment tumors have been molecularly profiled and there are no validated prognostic or therapeutic biomarkers for HB patients. We report on the first large-scale effort to profile pre-treatment HBs at diagnosis. Our analysis of 88 clinically-annotated HBs revealed three risk-stratifying molecular subtypes that are characterized by differential activation of hepatic progenitor cell markers and metabolic pathways: high-risk tumors were characterized by up-regulated NFE2L2 activity, high LIN28B, HMGA2, SALL4 and AFP expression, and high coordinated expression of oncofetal proteins and stem cell markers; while low-risk tumors had low LIN28B and let-7 expression, and high HNF1A activity...
October 24, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Y Liu, Z-X Zhang
OBJECTIVE: Precision medicine is a personalized disease prevention and treatment program combining modern genetic technology, molecular imaging techniques, and biological information with patients' living environment and clinical data, for accurate classification and diagnosis of diseases. CASE REPORT: Our study presents the case of a 7-year-old female patient with clinical manifestations of growth hormone (GH) deficiency. After treatment with recombinant human GH for 2 years, the patient showed a reduced growth rate...
October 2016: European Review for Medical and Pharmacological Sciences
Gráinne S Gorman, Patrick F Chinnery, Salvatore DiMauro, Michio Hirano, Yasutoshi Koga, Robert McFarland, Anu Suomalainen, David R Thorburn, Massimo Zeviani, Douglass M Turnbull
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function. Mitochondrial diseases are the most common group of inherited metabolic disorders and are among the most common forms of inherited neurological disorders. One of the challenges of mitochondrial diseases is the marked clinical variation seen in patients, which can delay diagnosis...
October 20, 2016: Nature Reviews. Disease Primers
P Dhakal, V R Bhatt
Diagnosis and management of hematopoietic cell transplant-associated thrombotic microangiopathy (TA-TMA) are very complex and controversial, given multiple ongoing issues and comorbidities in sick transplant recipients. Complement activation via classic and alternative pathways is emerging as a potential pathogenetic mechanism in the development of TA-TMA. Complement-centric diagnostic strategy using functional and genetic tests may possibly support diagnosis, enhance molecular understanding and direct drug development...
October 24, 2016: Bone Marrow Transplantation
John Ashurst, Shane R Sergent, Benjamin R Sergent
Hypokalemia and hyperkalemia are the most common electrolyte disorders managed in the emergency department. The diagnosis of these potentially life-threatening disorders is challenging due to the often vague symptomatology a patient may express, and treatment options may be based upon very little data due to the time it may take for laboratory values to return. This review examines the most current evidence with regard to the pathophysiology, diagnosis, and management of potassium disorders. In this review, classic paradigms, such as the use of sodium polystyrene and the routine measurement of serum magnesium, are tested, and an algorithm for the treatment of potassium disorders is discussed...
November 2016: Emergency Medicine Practice
Ashley M Smith, Amanda Jensen-Doss
Improving mental health services for youth in usual care (UC) is one of the most critical issues in mental health services research. Identification of change groups in UC (e.g., recovery, improvement, no response, deterioration) can help researchers gain a richer understanding of UC and facilitate efforts to tailor UC to individuals who may not be responding well to treatment. This study used the reliable change index (RCI; Jacobson & Truax, 1991) to examine change groups within youth UC on two parent report outcome measures-symptom severity and functioning-using a large, naturalistic sample of youth (N = 672) treated in UC served at four clinics operating under a large county-wide public mental health authority...
October 24, 2016: Psychological Services
Martin Luther Mann Manyombe, Joseph Mbang, Jean Lubuma, Berge Tsanou
In this paper, an epidemic model is investigated for infectious diseases that can be transmitted through both the infectious individuals and the asymptomatic carriers (i.e., infected individuals who are contagious but do not show any disease symptoms). We propose a dose-structured vaccination model with multiple transmission pathways. Based on the range of the explicitly computed basic reproduction number, we prove the global stability of the disease-free when this threshold number is less or equal to the unity...
August 1, 2016: Mathematical Biosciences and Engineering: MBE
Jie Chen, Hong Liang, Lin Lin, Zhaopei Guo, Pingjie Sun, Meiwan Chen, Huayu Tian, MingXiao Deng, Xuesi Chen
Multifunctional nanoparticles with high gene transfection activity, low cytotoxicity, photoacoustic imaging ability, and photothermal therapeutic properties were prepared by conjugating low-molecular-weight polyethylenimine onto the surfaces of gold nanorods through the formation of stable S-Au bonded conjugates. Results revealed that the gene transfection efficiency of the prepared polyethylenimine-modified gold nanorods (GNRs-PEI1.8k) was higher and their cytotoxicity was less than those of the commercial reagent PEI25k...
October 24, 2016: ACS Applied Materials & Interfaces
C Lorca-García, B Berenguer, E de Tomás Palacios, C Marín Molina
INTRODUCTION: Periorbital lymphatic malformations are a rare entity in which diagnosis and treatment could be a challenge for surgeons. Management may be conservative, or they can be treated by sclerotherapy, surgery or combination of both. CLINICAL OBSERVATION: We present two cases of periorbital lymphatic malformations treated by sclerotherapy (OK-432 or bleomycin) and surgery in which we achieve good results with minimum morbidity. COMMENTS: Surgery combined with sclerotherapy is a good option of treatment for periorbital lymphatic malformations because surgery can be more conservative and therefore, sequelae are lower...
April 20, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
V Villamil, N A Méndez Aguirre, T Martínez Menchón, O Girón Vallejo, M Fernández Ibieta, P Y Reyes Ríos, I Martínez Castaño, J Rojas Ticona, A Sánchez Sánchez, L Hernández Sánchez, J I Ruiz Jiménez
INTRODUCTION: Segmental cervico facial hemangiomas are defined as those longer than 5 cm, affecting a specific facial area. These lesions can be eventually associated with the PHACE syndrome. Our aim is to propose neonatal treatment with propranolol, showing its efficacy/safety, given the scarce evidence on its neonatal use. CLINICAL OBSERVATION: After written informed consent, four patients with segmental facial hemangioma were treated with propranolol in the neonatal period...
April 20, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
M Fernández Castilla, A Salazar Villacorta, A Martín Nalda, J C Ferreres Piñas, A Coma Muñoz, G Guillén Burrieza
INTRODUCTION: Appendicular actinomycosis is a rare disease produced by cecal appendix invasion by Actinomyces gender bacteria after a predisposing cause that disrupts mucosal barrier, such as acute appendicitis. The highest frequency appears in adults; however, there are cases in paediatric age described in literature. The aim of this article is to introduce a case of appendicular actinomycosis in a child with atypical presentation and to review the literature. CLINICAL CASE: 10-year-old boy transferred to our hospital due to intraoperative finding at a different centre of a right flank tumor, without identification of cecal appendix...
April 20, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
A García Baglietto, C Barceló Cañellas, C Marhuenda Irastorza
INTRODUCTION: Stump appendicitis is the remaining appendicular tissue inflammation after a variable length of time. It is a very infrequent pathology with a paucity in pediatric publications, and given the fact that a delay in its diagnosis could lead to an increased morbidity, this is the reason of its clinical relevance. CLINICAL CASE: A 10 years old girl who had laparoscopic excision of a flemonous-gangrenous appendicitis and who 45 days after surgery showed new clinical symptoms compatible with a diagnosis of acute appendicitis...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
Y D Pacheco, C Lorca-García, B Berenguer, E De Tomás
INTRODUCTION: Preaxial polydactyly is one of the most common congenital malformations of the hand. The treatment is surgical and should be done early, between 6 and 12 months old. The purpose of this paper is to review our experience in terms of casuistry, treatment and functional and aesthetic results of duplicity of thumb, since 2000 until today. MATERIAL AND METHODS: A retrospective study of patients with diagnosis of preaxial polydactyly from 2000 to january 2016 was performed...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
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