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https://www.readbyqxmd.com/read/29454229/pancreatic-cancer-presenting-as-colonic-disease-a-rare-case-report
#1
Sara Tavares Nogueira, Bruno Lima Pinto, Eduardo Faria Silva, Hermano Anjos Garcia, Francisco Carneiro
INTRODUCTION: Pancreatic cancer is the fourth major cause of cancer-related deaths. About 50% of the patients are diagnosed with advanced disease. Metastatic disease to the colon is a very rare entity with only 5 cases described in english literature. CASE PRESENTATION: Male, 60 years-old, presents to a surgical consult with the diagnosis of an adenocarcinoma of the sigmoid colon. The physical exam revealed a periumbilical nodule with suspicious features. The staging CT-scan showed a mass in the tail of the pancreas involving the spleen and left kidney, thickening of the sigmoid colon, multiple mesenteric masses and trabecular changes in the ischium, suggesting metastatic disease...
February 9, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29454079/a-novel-metric-that-quantifies-risk-stratification-for-evaluating-diagnostic-tests-the-example-of-evaluating-cervical-cancer-screening-tests-across-populations
#2
Hormuzd A Katki, Mark Schiffman
Our work involves assessing whether new biomarkers might be useful for cervical-cancer screening across populations with different disease prevalences and biomarker distributions. When comparing across populations, we show that standard diagnostic accuracy statistics (predictive values, risk-differences, Youden's index and Area Under the Curve (AUC)) can easily be misinterpreted. We introduce an intuitively simple statistic for a 2 × 2 table, Mean Risk Stratification (MRS): the average change in risk (pre-test vs...
February 14, 2018: Preventive Medicine
https://www.readbyqxmd.com/read/29454051/retrospective-observational-study-of-the-use-of-artemether-lumefantrine-in-the-treatment-of-malaria-in-japan
#3
Fukumi Nakamura-Uchiyama, Yuichi Katanami, Tadashi Kikuchi, Saho Takaya, Satoshi Kutsuna, Taiichiro Kobayashi, Yasutaka Mizuno, Tetsuo Hasegawa, Michiko Koga, Yukihiro Yoshimura, Chihiro Hasegawa, Yasuyuki Kato, Mikio Kimura, Haruhiko Maruyama
BACKGROUND: The Research Group on Chemotherapy of Tropical Diseases, Japan, introduced artemether-lumefantrine (AL) in late 2002, mainly for treating uncomplicated Plasmodium falciparum malaria. Because AL was on the market in Japan in March 2017, the effectiveness and safety of AL were analyzed to help medical personnel use AL optimally. METHODS: Case report forms submitted by the attending physicians were analyzed. When necessary, direct contact with the attending physicians was made to obtain detailed information...
February 14, 2018: Travel Medicine and Infectious Disease
https://www.readbyqxmd.com/read/29454048/new-insights-into-the-molecular-characteristics-of-pulmonary-carcinoids-and-large-cell-neuroendocrine-carcinomas-and-the-impact-on-their-clinical-management
#4
REVIEW
J L Derks, N Leblay, S Lantuejoul, A M Dingemans, E J M Speel, L Fernandez-Cuesta
Carcinoids and large-cell neuroendocrine carcinomas (LCNEC) are rare neuroendocrine lung tumors. Here we provide an overview of the most updated data on the molecular characteristics of these diseases. Recent genomic studies showed that carcinoids generally contain a low mutational burden and few recurrently mutated genes. Most of the reported mutations occur in chromatin-remodeling genes (e.g. MEN1), and few affect genes of the PI3K-AKT-mTOR pathway. Aggressive disease has been related to chromothripsis, DNA-repair gene mutations, loss of OTP/CD44, and upregulation of RET gene expression...
February 14, 2018: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29453933/myt1l-induced-direct-reprogramming-of-pericytes-into-cholinergic-neurons
#5
Xing-Guang Liang, Chao Tan, Cheng-Kun Wang, Rong-Rong Tao, Yu-Jie Huang, Kui-Fen Ma, Kohji Fukunaga, Ming-Zhu Huang, Feng Han
OBJECTIVE: The cholinergic deficit is thought to underlie progressed cognitive decline in Alzheimer Disease. The lineage reprogramming of somatic cells into cholinergic neurons may provide strategies toward cell-based therapy of neurodegenerative diseases. METHODS AND RESULTS: Here, we found that a combination of neuronal transcription factors, including Ascl1, Myt1l, Brn2, Tlx3, and miR124 (5Fs) were capable of directly converting human brain vascular pericytes (HBVPs) into cholinergic neuronal cells...
February 17, 2018: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/29453699/unusual-intestinal-involvement-by-paracoccidioidomycosis-diagnosed-after-oral-manifestation
#6
Rodrigo Neves-Silva, Patrícia Maria Fernandes, Alan Roger Santos-Silva, Pablo Agustin Vargas, Ricardo de Souza Cavalcante, Marcio Ajudarte Lopes
Paracoccidioidomycosis is a common deep fungus infection in South America, particularly in Brazil. It is acquired through inhalation and primary involvement of lungs. Subsequently, dissemination may occur and oral mucosa is frequently affected and actually, in most of the cases the diagnosis is established because of the oral lesions. Thus, the role of the dentist is fundamental to correct diagnosis. However, the involvement of intestine is rarely reported. The current case describes a 36-year-old man who presented abdominal pain and intestinal constipation, being suspected and then confirmed as paracoccidioidomycosis after already be diagnosed with this disease by a dentist through oral manifestations...
February 16, 2018: Mycopathologia
https://www.readbyqxmd.com/read/29453639/upper-airway-obstruction-induced-by-non-invasive-ventilation-using-an-oronasal-interface
#7
Valentin Schellhas, Christian Glatz, Ingo Beecken, Angelika Okegwo, Anna Heidbreder, Peter Young, Matthias Boentert
BACKGROUND: On initiation of long-term non-invasive ventilation (NIV), intermittent upper airway obstruction has rarely been described as possibly treatment-induced. Inspiratory pressure effects and the use of an oronasal interface may promote obstructive events in some patients with neuromuscular disease (NMD) and amyotrophic lateral sclerosis (ALS) in particular. METHODS: We evaluated clinical data from 212 patients in whom NIV was initiated using an oronasal mask...
February 17, 2018: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/29453599/sequential-analysis-in-neonatal-research-systematic-review
#8
Sebastiano A G Lava, Valéry Elie, Phuong Thi Viet Ha, Evelyne Jacqz-Aigrain
As more new drugs are discovered, traditional designs come at their limits. Ten years after the adoption of the European Paediatric Regulation, we performed a systematic review on the US National Library of Medicine and Excerpta Medica database of sequential trials involving newborns. Out of 326 identified scientific reports, 21 trials were included. They enrolled 2832 patients, of whom 2099 were analyzed: the median number of neonates included per trial was 48 (IQR 22-87), median gestational age was 28.7 (IQR 27...
February 16, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29453517/probable-diagnosis-of-a-patient-with-niemann-pick-disease-type-c-managing-pitfalls-of-exome-sequencing
#9
William A Zeiger, Nasheed I Jamal, Maren T Scheuner, Patricia Pittman, Kimiyo M Raymond, Massimo Morra, Shri K Mishra
Here, we present a case of a 31-year-old man with progressive cognitive decline, ataxia, and dystonia. Extensive laboratory, radiographic, and targeted genetic studies over the course of several years failed to yield a diagnosis. Initial whole exome sequencing through a commercial laboratory identified several variants of uncertain significance; however, follow-up clinical examination and testing ruled each of these out. Eventually, repeat whole exome sequencing identified a known pathogenic intronic variant in the NPC1 gene (NM_000271...
February 17, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29453508/refractory-gastric-antral-ulcers-without-helicobacter-pylori-infection-and-non-steroidal-anti-inflammatory-drugs
#10
Hirotada Nishie, Hiromi Kataoka, Hiroyuki Kato, Taketo Suzuki, Hiroshi Ichikawa, Yu Nojiri, Mika Kitagawa, Yusuke Inagaki, Hiroyasu Iwasaki, Mamoru Tanaka, Takahito Katano, Yasuyuki Okamoto, Keiji Ozeki, Tsutomu Mizoshita, Takaya Shimura, Eiji Kubota, Satoshi Tanida, Takashi Joh
Herein, we describe a rare case of refractory gastric antral ulcers. A woman in her 50 s was admitted to Nagoya City University Hospital with epigastric pain after being diagnosed with gastric antral submucosal tumor at another hospital. Findings from esophagogastroduodenoscopy and endoscopic ultrasound examination revealed that the lesion was a gastric ulcer. The patient had no Helicobacter pylori infection and no recent history of using non-steroidal anti-inflammatory drugs. On the basis of these findings, we diagnosed this as a case of refractory gastric antral ulcer (RGAU)...
February 16, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29453406/crispr-cas9-a-tool-to-efficiently-increase-the-development-of-recombinant-african-swine-fever-viruses
#11
Manuel V Borca, Lauren G Holinka, Keith A Berggren, Douglas P Gladue
African swine fever virus (ASFV) causes a highly contagious disease called African swine fever. This disease is often lethal for domestic pigs, causing extensive losses for the swine industry. ASFV is a large and complex double stranded DNA virus. Currently there is no commercially available treatment or vaccine to prevent this devastating disease. Development of recombinant ASFV for producing live-attenuated vaccines or studying the involvement of specific genes in virus virulence has relied on the relatively rare event of homologous recombination in primary swine macrophages, causing difficulty to purify the recombinant virus from the wild-type parental ASFV...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29453163/incidentally-discovered-persistent-m%C3%A3-llerian-duct-syndrome-in-a-45-year-old-male-presenting-with-germ-cell-tumor-and-bilateral-cryptorchidism-a-rare-case-report-and-review-of-the-literature
#12
Turki Z Al Harbi, Kareem Ayman Azzam, Ayman Azzam, Tarek Amin, Nasir Bakshi
INTRODUCTION: Persistent Müllerian Duct Syndrome (PMDS) is a rare sexual disease. It is characterized by the presence of female reproductive structures such as uterus, cervix, fallopian tubes and upper part of vagina in a normal genotypically and phenotypically male. The diagnosis is usually incidental since the patients will present with normal external genitalia and secondary sexual characteristics. Imaging techniques such as magnetic resonance imaging (MRI), computed tomography (CT) scan, or ultrasound (US) could help in the diagnosis...
February 9, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29453157/-the-spanish-society-of-paediatric-infectious-diseases-guidelines-on-the-prevention-diagnosis-and-treatment-of-neonatal-herpes-simplex-infections
#13
(no author information available yet)
Neonatal herpes simplex virus infections are rare, but are associated with significant morbidity and mortality. Most newborns acquire herpes simplex virus infection in the peripartum period. For peripartum transmission to occur, women must be shedding the virus in their genital tracts symptomatically or asymptomatically around the time of delivery. There are evidence-based interventions in pregnancy to prevent the transmission to the newborn. Caesarean section should be performed in the presence of herpetic lesions, and antiviral prophylaxis in the last weeks of pregnancy is recommended to suppress genital tract herpes simplex virus at the time of delivery...
February 13, 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29452998/resection-of-intrathoracic-paraganglioma-with-and-without-cardiopulmonary-bypass
#14
Carmelina Gurrieri, James J Butz, Toby N Weingarten, Irina Bancos, William F Young, Stephen D Cassivi, Sameh M Said, Travis J McKenzie, David W Barbara, Juraj Sprung
BACKGROUND: Intrathoracic paragangliomas (PGLs) are rare tumors. Approximately 50% originate from and around cardiac structures. METHODS: A retrospective review was made of the perioperative course of patients with intrathoracic PGL resection from 2000 through 2015 at Mayo Clinic in Rochester, Minnesota. RESULTS: Twenty-two patients underwent PGL resection. Sixteen patients (73%) had functioning tumors (11, noradrenergic; 4, mixed noradrenergic and dopaminergic; 1, dopaminergic)...
February 13, 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29452754/insulinoma-a-retrospective-study-analyzing-the-differences-between-benign-and-malignant-tumors
#15
A B Câmara-de-Souza, M T K Toyoshima, M L Giannella, D S Freire, C P Camacho, D M Lorenço, M S Rocha, T Bacchella, R Jureidini, M C C Machado, M Q Almeida, M A A Pereira
BACKGROUND/OBJECTIVES: Insulinoma is a rare pancreatic tumor and, usually, a benign disease but can be a malignant one and, sometimes, a highly aggressive disease. The aim of this study was to determine differences between benign and malignant tumors. METHODS: Retrospective study of 103 patients with insulinoma treated in a tertiary center. It was analyzed demographic, clinical, laboratory, localization and histologic analysis of tumor and follow up data of subjects in order to identify differences between individuals benign and malignant disease...
February 1, 2018: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/29452711/primary-sclerosing-cholangitis
#16
REVIEW
Jessica K Dyson, Ulrich Beuers, David E J Jones, Ansgar W Lohse, Mark Hudson
Primary sclerosing cholangitis is a rare, chronic cholestatic liver disease characterised by intrahepatic or extrahepatic stricturing, or both, with bile duct fibrosis. Inflammation and fibrosis of bile ducts and the liver are followed by impaired bile formation or flow and progressive liver dysfunction. Patients might be asymptomatic at presentation or might have pruritus, fatigue, right upper quadrant pain, recurrent cholangitis, or sequelae of portal hypertension. The key diagnostic elements are cholestatic liver biochemistry and bile duct stricturing on cholangiography...
February 13, 2018: Lancet
https://www.readbyqxmd.com/read/29452668/should-rituximab-replace-splenectomy-in-the-management-of-splenic-marginal-zone-lymphoma
#17
REVIEW
Christina Kalpadakis, Gerassimos A Pangalis, Maria K Angelopoulou, Sotirios Sachanas, Theodoros P Vassilakopoulos
SMZL is a relatively rare low grade B-cell lymphoma, characterized usually by an indolent clinical behavior. Since there is no prospective randomized trials to establish the best treatment approach, decision on therapeutic management should be based on the available retrospective series. Based on these data, rituximab and splenectomy appear to be the most effective. Splenectomy represented the standard treatment modality until early 2000s. More than 90% of the patients present quick amelioration of splenomegaly related symptoms along with improvement of cytopenias related to hypersplenism...
March 2018: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29452605/extraordinary-disease-free-survival-in-a-rare-malignant-extrarenal-rhabdoid-tumor-a-case-report-and-review-of-the-literature
#18
Francesco D'Amico, Alessandra Bertacco, Maurizio Cesari, Claudia Mescoli, Giorgio Caturegli, Gabriel Gondolesi, Umberto Cillo
BACKGROUND: Malignant extrarenal rhabdoid tumor of the gastrointestinal tract is rarely reported in the literature. It is characterized by poor prognosis and aggressive metastatic features. A literature review evidenced only 19 cases, with poor outcome. CASE PRESENTATION: We report a case of a colonic "pure" malignant extrarenal rhabdoid tumor with metastatic nodes in a 65-year-old Caucasian man. He was treated surgically with no recurrence, no adjuvant chemotherapy, and with 4-year survival without disease at the time of the submission of this article...
February 17, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29452451/botulinum-toxin-for-the-treatment-of-cyclic-strabismus-in-children-three-case-reports
#19
Monika Wipf, Corinne Bok-Beaube, Anja Palmowski-Wolfe
Cyclic strabismus is a rare disease of unknown origin. If untreated, it leads to manifest strabismus with the risk of amblyopia in children. Treatment is generally surgical. Here we report on three children in whom cyclic esotropia was successfully treated with one bimedial injection of 5 IU Botox ® . All patients remained orthotropic with good stereo functions at the last follow-ups at 16, 11, and 8 months. Botulinum toxin offered a minimally invasive treatment option in these patients.
February 16, 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29452069/idiopathic-isolated-unilateral-hypoglossal-nerve-palsy-a-report-of-2-cases-and-review-of-the-literature
#20
Akio Shibata, Masashi Kimura, Kenichiro Ishiabashi, Masahiro Umemura
Hypoglossal nerve palsy (HNP) is a common finding in neurologic diseases when associated with other cranial nerve palsies or further pathology and exhibits characteristic clinical manifestations, including unilateral atrophy of the musculature of the tongue. It occasionally appears as the initial or solitary sign of an intracranial or extracranial space-occupying lesion, head or neck injury, or vascular abnormality of the internal carotid artery. There are few cases of idiopathic isolated unilateral HNP, which should be diagnosed through exclusion...
February 2, 2018: Journal of Oral and Maxillofacial Surgery
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