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https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#1
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
February 22, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28229528/severe-preeclampsia-before-26-weeks-gestation-how-should-we-counsel-women
#2
Olaide A Ashimi, Suneet P Chauhan
Objective observations of the uncommon occurrences can be gratifying, albeit grating. The gratifying part of the case series from Netherlands on severe preeclampsia before 26 weeks is undeniable. To convince all tertiary centres in a country to collect data on an obstetric phenomenon which occurs in 0.013% (133/1,044,287) of deliveries is an accomplishment! The rich data on maternal demographics and morbidity, along with neonatal outcomes is a remarkable. This article is protected by copyright. All rights reserved...
February 23, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28229525/bilateral-thalamic-lesions-a-pictorial-review
#3
Anıl Özgür, Kaan Esen, Hakan Kaleağası, Arda Yılmaz, Engin Kara, Altan Yıldız
Bithalamic lesions are uncommon, however, both focal and systemic disorders may present bilateral abnormalities in the thalamus in different acute and chronic clinical situations. Neuroimaging, in particular magnetic resonance imaging, plays an essential role in diagnostic approach. Imaging features such as signal alterations, diffusion restriction or contrast enhancement are helpful in characterization of these abnormalities. The location of the lesions may provide key information because some pathologies typically involve a certain part of the thalamus...
February 23, 2017: Journal of Medical Imaging and Radiation Oncology
https://www.readbyqxmd.com/read/28229337/novel-odd-chain-fatty-acids-with-a-terminal-double-bond-in-ovaries-of-the-limpet-cellana-toreuma
#4
Hideki Kawashima, Masao Ohnishi
Our previous study characterized highly diverse dienoic fatty acids (FA), in particular an uncommon non-methylene-interrupted (NMI) FA, in the ovaries of the Japanese limpet Cellana toreuma belonging to the archaeogastropods, but many minor chemically unidentified FA remain. In this study, among previously unidentified FA (less than 0.1% of total FA), four novel NMI FA with a terminal double bond [7,18-nonadecadienoic (19:2Δ7,18), 11,18-nonadecadienoic (19:2Δ11,18), 7,20-heneicosadienoic (21:2Δ7,20), and 11,20-heneicosadienoic (21:2Δ11,20) acids] were found, along with known 14-pentadecenoic (15:1Δ14), 16-heptadecenoic (17:1Δ16), and 9,18-nonadecadienoic (19:2Δ9,18) acids, based on capillary GC-MS of their methyl esters, 3-pyridylcarbinol derivatives, and argentation thin-layer chromatography...
February 23, 2017: Lipids
https://www.readbyqxmd.com/read/28229030/retroperitoneal-necrotizing-fasciitis-masquerading-as-perianal-abscess-rare-and-perilous
#5
Anandhi Amaranathan, Ashok Kumar Sahoo, Deepak Barathi, Gomathi Shankar, Sarath Chandra Sistla
Necrotizing fasciitis is one of the uncommon presentations of a rapidly spreading subcutaneous tissue infection. Although the actual cause is unclear in many cases, most of them are due to the rapid proliferation of microorganisms. Retroperitoneal necrotizing fasciitis is extremely rare. It is a potentially lethal infection that requires immediate and aggressive surgical care. Early diagnosis is the key to a better prognosis. The possibility of retroperitoneal necrotizing fasciitis should be suspected in patients with symptoms of sepsis that are disproportionate to clinical findings...
January 17, 2017: Curēus
https://www.readbyqxmd.com/read/28228879/zinner-syndrome-diagnosed-by-magnetic-resonance-imaging-and-computed-tomography-role-of-imaging-to-identify-and-evaluate-the-uncommon-variation-in-development-of-the-male-genital-tract
#6
V Fiaschetti, L Greco, V Giuricin, D De Vivo, E Di Caprera, R Di Trapano, F Castellani, R Floris
Seminal vesicle cysts are a very rare condition and its often associated with ipsilateral renal agenesis. The diagnosis of seminal vesicle cysts may be delayed or missed because of the non-specific symptoms of this condition. This article reports a triad of right renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction (Zinner syndrome) in a 56 years old man.
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28228876/a-hairy-situation-trichobezoar-presenting-with-intussusception-and-intestinal-and-biliary-perforation-in-a-child
#7
Akshay D Baheti, Jeffrey P Otjen, Grace S Phillips
Trichobezoars are an uncommon cause of acute abdominal pain. We present a case of a 12-year-old girl with a history of a trichobezoar who presented to the emergency department with acute abdominal pain. Abdominal sonography was performed which suggested portal venous gas and showed complex peritoneal fluid. Subsequent computed tomography demonstrated both gastric and small bowel bezoars, with a jejunojejunal intussusception, and confirmed portal venous gas and complex ascites. At the time of surgery, there was evidence of intestinal and biliary perforation...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28228783/-atypical-atypical-femur-fractures-and-use-of-bisphosphonates
#8
Denise M van de Laarschot, Matthijs P Somford, Agnes Jager, Edwin H Oei, P Koen Bos, M Carola Zillikens
BACKGROUND: Atypical femur fractures (AFFs) present a rare but serious condition associated with use of bisphosphonates. Underlying mechanisms and clinical risk factors remain unclear. According to the diagnostic criteria formulated by the ASBMR, a lateral localization of an AFF is required. CASE HISTORY: We present a patient who developed bilateral leg pain while using an oral bisphosphonate and aromatase inhibitor in the course of adjuvant treatment for breast cancer...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28228710/her2-positive-neuroendocrine-breast-cancer-case-report-and-review-of-literature
#9
Arpine Gevorgyan, Giacomo Bregni, Giulia Galli, Elisa Zanardi, Filippo de Braud, Serena Di Cosimo
BACKGROUND: Neuroendocrine carcinoma is an uncommon histology for breast cancer. CASE REPORT: Our patient underwent right quadrantectomy for a neuroendocrine carcinoma in 1984 and had a bone relapse 30 years later. After thorough pathological and immunohistochemical analysis the diagnosis was confirmed and HER2 amplification was observed. Here we discuss the management, rationale and results of HER2-targeted therapy in advanced neuroendocrine breast carcinoma.
December 2016: Breast Care
https://www.readbyqxmd.com/read/28228431/right-upper-quadrant-abdominal-pain-as-the-initial-presentation-of-polyarteritis-nodosa
#10
Ricardo Gago, Lee Ming Shum, Luis M Vilá
Polyarteritis nodosa (PAN) is a necrotising vasculitis that involves medium and small vessels. PAN generally presents with constitutional, cutaneous, neurological, renal and gastrointestinal manifestations. However, PAN initially involving a single organ/system is uncommon. Here, we present a 42-year-old man who was hospitalised because of severe right upper quadrant abdominal pain that started 2 months before. Physical examination was remarkable for right upper quadrant abdominal tenderness. Abdominopelvic CT showed lymphadenopathy but no hepatic, gallbladder, pancreatic, intestinal or renal abnormalities...
February 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28226388/-can-anti-vegf-injections-cause-glaucoma-or-ocular-hypertension
#11
I Lanzl, K Kotliar
An increasing number of patients receive intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections with a high frequency for the treatment of neovascular macular disease. Since the volume of the vitreous body is temporarily increased by the injection of the substances, a short-term intraocular pressure increase after the introduction of the substance is not uncommon. However, there are more and more reports indicating that multiple injections may lead to a long-term increase in intraocular pressure...
February 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28226202/predictors-of-acute-myocarditis-in-complicated-scrub-typhus-an-endemic-province-in-the-republic-of-korea
#12
Jung Yeon Chin, Ki-Woon Kang, Kyung Min Moon, Jongwoo Kim, Yu Jeong Choi
Background/Aims: Scrub typhus is known as a self-limited infectious disease. Cardiac complication is uncommon and usually not life-threatening. Until now, few cases of fulminant myocarditis by scrub typhus have been reported. So, we investigated incidence and predictors of acute myocarditis in severe scrub typhus. Methods: We retrospectively reviewed 89 patients among 91 scrub typhus confirmed patients who examined an echocardiogram and cardiac biomarkers from 2005 to 2015 in the intensive care unit at our hospital...
February 23, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28225999/radioactive-iodine-refractory-differentiated-thyroid-cancer-an-uncommon-but-challenging-situation
#13
Angelica Schmidt, Laura Iglesias, Michele Klain, Fabián Pitoia, Martin J Schlumberger
Radioiodine (RAI)-refractory thyroid cancer is an uncommon entity, occurring with an estimated incidence of 4-5 cases/year/million people. RAI refractoriness is more frequent in older patients, in those with large metastases, in poorly differentiated thyroid cancer, and in those tumors with high 18-fluordeoxyglucose uptake on PET/CT. These patients have a 10-year survival rate of less than 10%. In recent years, new therapeutic agents with molecular targets have become available, with multikinase inhibitors (MKIs) being the most investigated drugs...
February 13, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28225964/penile-squamous-cell-carcinoma-a-review-of-the-literature-and-case-report-treated-with-mohs-micrographic-surgery
#14
Elizabeth Marchionne, Caroline Perez, Andrea Hui, Amor Khachemoune
The majority of penile carcinoma is squamous cell carcinoma. Although uncommon in the United States, it represents a larger proportion of cancers in the underdeveloped world. Invasive squamous cell carcinoma may arise from precursor lesions or de novo , and has been associated with lack of circumcision and HPV infection. Early diagnosis is imperative as lymphatic spread is associated with a poor prognosis. Radical surgical treatment is no longer the mainstay, and penile sparing treatments now are often used, including Mohs micrographic surgery...
January 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28225649/medical-mimics-of-child-abuse
#15
Cindy W Christian, Lisa J States
OBJECTIVE: Physicians have an ethical and legal mandate to identify abused children so that they may be protected from further harm and are simultaneously required to think broadly and objectively about differential diagnoses. The medical literature is replete with examples of medical diseases that mimic abuse, potentially leading to misdiagnoses and subsequent harm to children and families. CONCLUSION: This review highlights some of the common and uncommon diseases that mimic physical and sexual abuse of children...
February 22, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28225374/characterizing-the-toxicity-and-dose-effect-profile-of-tramadol-ingestions-in-children
#16
Gina L Stassinos, Lawrence Gonzales, Wendy Klein-Schwartz
OBJECTIVES: Tramadol can cause life-threatening toxicity in overdose; however, data on its toxicity in children are lacking. This study investigates toxicity associated with tramadol ingestions in children. The hypothesis is that children will experience dose-related central nervous system and respiratory depression and seizures. METHODS: A retrospective evaluation of cases from the National Poison Center Data System between January 1, 2000, and December 31, 2013, was performed...
February 21, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28224768/comparison-of-the-bruker-biotyper-and-vitek-ms-matrix-assisted-laser-desorption-ionization-time-of-flight-mass-spectrometry-systems-using-a-formic-acid-extraction-method-to-identify-common-and-uncommon-yeast-isolates
#17
Hyun Seung Lee, Jong Hee Shin, Min Ji Choi, Eun Jeong Won, Seung Jung Kee, Soo Hyun Kim, Myung Geun Shin, Soon Pal Suh
BACKGROUND: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) allows rapid and accurate identification of clinical yeast isolates. In-tube formic acid/acetonitrile (FA/ACN) extraction is recommended prior to the analysis with MALDI Biotyper, but the direct on-plate FA extraction is simpler. We compared the Biotyper with the VITEK MS for the identification of various clinically relevant yeast species, focusing on the use of the FA extraction method...
May 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28224653/air-sacculitis-in-three-rhesus-macaques-macaca-mulatta-and-one-japanese-macaque-m-%C3%A2-fuscata
#18
Cassandra O Cullin, Lois M A Colgin, Anne D Lewis
Bacterial infection of the laryngeal air sacs (air sacculitis) is infrequently reported in nonhuman primates, where it leads to chronic respiratory disease. It is particularly uncommon in macaques; however, we report here suppurative air sacculitis with extension to adjacent cervical tissues in three rhesus macaques and one Japanese macaque. Staphylococcus aureus, Streptococcus sp., and an anaerobic bacterium were isolated.
February 22, 2017: Journal of Medical Primatology
https://www.readbyqxmd.com/read/28224460/how-phenotype-guides-management-of-the-most-common-malignant-salivary-neoplasms-of-the-larynx
#19
REVIEW
Fernando López, Michelle D Williams, Alena Skálová, Henrik Hellquist, Carlos Suárez, Iain J Nixon, Juan P Rodrigo, Antonio Cardesa, Primož Strojan, Miquel Quer, Jennifer L Hunt, Alessandra Rinaldo, Alfio Ferlito
Salivary gland carcinomas of the larynx are uncommon. Adenoid cystic carcinoma is the most prevalent type of salivary gland carcinoma in this region, although other histologies such as mucoepidermoid carcinoma and adenocarcinomas have been reported. These tumors may present with advanced-stage due to nonspecific symptoms and their relatively slow-growing nature. The index of suspicion for a non-squamous cell carcinoma entity should be high when a submucosal mass is present. An accurate diagnosis is mandatory due to the impact each biologic entity has on treatment and outcome...
February 21, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28224217/-uncommon-inflammation-of-the-upper-eyelid
#20
A Kopecky, K R Koch, L M Heindl
No abstract text is available yet for this article.
February 21, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
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