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https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#1
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29783272/tendon-healing-in-bone-tunnel-after-human-anterior-cruciate-ligament-reconstruction-a-systematic-review-of-histological-results
#2
Hongbin Lu, Can Chen, Shanshan Xie, Yifu Tang, Jin Qu
Most studies concerning to tendon healing and incorporation into bone are mainly based on animal studies due to the invasive nature of the biopsy procedure. The evidence considering tendon graft healing to bone in humans is limited in several case series or case reports, and therefore, it is difficult to understand the healing process. A computerized search using relevant search terms was performed in the PubMed, EMBASE, Scopus, and Cochrane Library databases, as well as a manual search of reference lists. Searches were limited to studies that investigated tendon graft healing to bone by histologic examination after anterior cruciate ligament (ACL) reconstruction with hamstring...
May 21, 2018: Journal of Knee Surgery
https://www.readbyqxmd.com/read/29783140/congenital-diaphragmatic-disease-an-unusual-presentation-in-adulthood-case-report
#3
Angela Gurrado, Roberta Maria Isernia, Alessandro De Luca, Valentina Ferraro, Daniela Virgintino, Anna Napoli, Giuseppe Cavallaro, Eugenio Maiorano, Angela Pezzolla, Mario Testini
INTRODUCTION: Congenital diaphragmatic disease is a quite common condition that usually occurs in the neonatal period, and the diagnosis of congenital diaphragmatic disease in adulthood is rare. CASE PRESENTATION: A 64-years-old Caucasian woman was admitted in emergency at our Department, due to a bowel obstruction and dyspnea. A CT-scan showed a diaphragmatic herniation in the left area, with malposition of dilated transverse and descending colon in the chest. An emergency laparatomy was performed, showing a toxic megacolon, in the absence of a true diaphragmatic hernia, and a left diaphragm and left liver hypoplasia...
May 7, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29783013/multiple-hereditary-exostoses-with-tetraparesis-due-to-cervical-spine-osteochondroma
#4
Ali Akhaddar, Mohamed Zyani, Issam Rharrassi
This is a case report about a 34-year-old man with hereditary multiple exostoses presented with gradual tetraparesis. Neuroimaging evaluation revealed an important posterior spinal cord compression by a C3 bony formation. Following posterior microsurgical decompression, the patient recovered nearly completely. Histopathological examination of the intraspinal lesion confirmed the diagnosis of benign osteochondroma. The patient returned to a normal life without evidence of recurrence at 2-year follow-up.
May 18, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29782813/actinomycotic-osteomyelitis-of-the-mandible-diagnosed-using-matrix-assisted-laser-desorption-ionization-time-of-flight-mass-spectrometry-a-case-report
#5
Shinsuke Yamamoto, Hiroshi Takegawa, Naoki Taniike, Toshihiko Takenobu
Actinomycosis is a rare, chronic, slowly progressive granulomatous disease caused by filamentous gram-positive anaerobic bacteria from the Actinomycetaceae family (genus Actinomyces). It has become a rare condition because of the widespread use of antibiotics. When clinical symptoms are not typical, diagnosis of this condition becomes difficult. This report describes a case involving an 82-year-old woman who was diagnosed with actinomycotic osteomyelitis of the mandible using matrix assisted laser desorption ionization-time-of-flight mass spectrometry (MALDI-TOF MS)...
April 26, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#6
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29782609/low-cost-customized-cranioplasty-using-a-3d-digital-printing-model-a-case-report
#7
Abel De La Peña, Javier De La Peña-Brambila, Juan Pérez-De La Torre, Miguel Ochoa, Guillermo J Gallardo
Background: Cranial defects usually occur after trauma, neurosurgical procedures like decompressive craniotomy, tumour resections, infection and congenital defects. The purpose of cranial vault repair is to protect the underlying brain tissue, to reduce any localized pain and patient anxiety, and improve cranial aesthetics. Cranioplasty is a frequent neurosurgical procedure achieved with the aid of cranial prosthesis made from materials such as: titanium, autologous bone, ceramics and polymers...
2018: 3D Print Med
https://www.readbyqxmd.com/read/29782440/management-for-simultaneous-patella-tendon-and-anterior-cruciate-ligament-ruptures-a-systematic-review-of-available-literature
#8
Alexander Handel Matthews, Ethan James Fraser, Benjamin Parkinson
BACKGROUND: Combined rupture of the anterior cruciate ligament (ACL) and patella tendon (PT) is a rare injury pattern. Currently little evidence exists to help guide management decisions for these patients. METHODS: A systematic literature search was conducted using PubMed (MEDLINE) and Scopus (EMBASE, MEDLINE) for all articles reporting on combined rupture of the anterior cruciate ligament (ACL) and patella tendon (PT). The characteristic injury mechanisms, common presentation findings and outcomes of simultaneous and staged treatment strategies were determined to provide guidance for the management of this uncommon injury pattern...
May 15, 2018: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/29782437/skin-injuries-and-chlorhexidine-gluconate-based-antisepsis-in-early-premature-infants-a-case-report-and-review-of-the-literature
#9
Valentina Vanzi, Rosanna Pitaro
Early premature infants are subjected to many invasive procedures in neonatal intensive care units, and effective skin antisepsis is an essential step in caring for these vulnerable patients. Nevertheless, preterm infants have an anatomically and physiologically immature skin and preserving their skin integrity is essential to avoid the risk of local and systemic complications. Skin particularities of newborns reduce the list of available antiseptics in neonatology. Chlorhexidine gluconate (CHG) has excellent antiseptic properties and its antimicrobial efficacy cannot be understated, but there is great concern about its use for premature infants, referring to the risk of development skin injuries, such as skin erythema, burns, and blisters...
May 17, 2018: Journal of Perinatal & Neonatal Nursing
https://www.readbyqxmd.com/read/29782409/case-reports-and-consent-for-publishing-in-rheumatology-journals-a-latin-american-perspective
#10
Carlos Pineda, Hugo Sandoval
Case reports have a long-standing tradition in the current rheumatology literature. We aimed to present the main points of view regarding the importance, meaning, and barriers of consent for publishing under the comprehensive protection of patients' rights within this genre. We encourage Latin American editors and authors of rheumatology journals to adopt the best ethical practices in the field, avoiding security and legal liabilities from a regional perspective.
June 2018: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/29782331/management-challenges-in-an-infant-with-pentalogy-of-cantrell-giant-anterior-encephalocele-and-craniofacial-anomalies-a-case-report
#11
Richard Hubbard, Seth Hayes, Holly Gillis, Spencer Lindsey, Prashant Malhotra, Tariq Wani, Joseph D Tobias, Ralph Beltran
Pentalogy of Cantrell is a rare syndrome consisting of midline abnormalities involving the heart, sternum, abdominal wall, and the anterior and pericardial diaphragm. This combination of defects places patients at particular perioperative risk and requires individualized management during anesthetic care. The following report documents the management of a patient with pentalogy of Cantrell, whose condition was further complicated by severe midline craniofacial abnormalities, including large anterior encephalocele, deficient mandible, tethered tongue, and cleft palate...
May 17, 2018: A&A practice
https://www.readbyqxmd.com/read/29782195/acute-pancreatitis-secondary-to-oral-contraceptive-induced-hypertriglyceridemia-a-case-report
#12
Matheo Augusto Morandi Stumpf, Ana Claudia Garabeli Cavalli Kluthcovsky, Jefferson Matsuiti Okamoto, Gianna Carla Alberti Schrut, Patricia de Oliveira Cajoeiro, Ana Paula Marte Chacra, Ricardo Bizeli
Hypertriglyceridemia is the third most common cause of acute pancreatitis. Among the causes that lead to secondary hypertriglyceridemia, the use of contraceptive agents is the main reason to be assessed in young women. We report a case of a 31-year-old woman who had suffered two acute pancreatitis episodes secondary to hypertriglyceridemia. In the investigation, the previous medical team indicated a genetic screening before ruling out all secondary causes. LPL, apo CII and apo AV genes were negative for mutations...
May 21, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29782064/accuracy-of-p57-kip-2-compared-with-genotyping-to-diagnose-complete-hydatidiform-mole-a-systematic-review-and-meta-analysis
#13
José Mauro Madi, Antonio Braga, Machline Paim Paganella, Isnard Elman Litvin, Eliana Márcia Wendland
BACK GROUND: Distinguishing hydatidiform moles (HMs) from non-molar specimens and the sub-classification of HM are important because complete hydatidiform mole (CHM) is associated with an increased risk of development of gestational trophoblastic neoplasia. However, diagnosis based solely on morphology has poor interobserver reproducibility. Recent studies have demonstrated that the use of p57KIP 2 immunostaining improves diagnostic accuracy for CHM. OBJECTIVES: To evaluate the accuracy of p57KIP 2 immunostaining compared with molecular genotyping for the diagnosis of CHM...
May 21, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29781972/human-trafficking-how-nurses-can-make-a-difference
#14
Meredith Scannell, Andrea E MacDonald, Amanda Berger, Nichole Boyer
Human trafficking is a human rights violation and a global health problem. Victims of human trafficking have medical and mental health sequelae requiring specific healthcare interventions. Healthcare professionals may be the initial contact that these victims make outside the world of trafficking. Healthcare professionals are key agents in the identification of human trafficking, which is essential in eliminating this public health problem. Unfortunately, healthcare professionals are not always able to detect signs of human trafficking...
April 2018: Journal of Forensic Nursing
https://www.readbyqxmd.com/read/29781970/male-help-seeking-after-sexual-assault-a-series-of-case-studies-informing-sexual-assault-nurse-examiner-practice
#15
Carolyn M Porta, Ellen Johnson, Cris Finn
BACKGROUND: A series of three composite case studies of cisgender men who presented to an emergency department for care after experiencing a sexual assault are presented. These cases show common assault characteristics including substance use, force, and multiple perpetrators. METHODS: We describe the sexual assault nurse examiner (SANE) findings and treatment and provide legal details of specific cases when available. RESULTS: These case reports highlight common challenges to help-seeking and the primary reasons these male victims overcame the barriers to seek care...
April 2018: Journal of Forensic Nursing
https://www.readbyqxmd.com/read/29781927/a-case-of-corneal-neovascularization-misdiagnosed-as-total-limbal-stem-cell-deficiency
#16
Qihua Le, C Michael Samson, Sophie X Deng
PURPOSE: To report a case of corneal neovascularization misdiagnosed as total limbal stem cell deficiency (LSCD). METHODS: This is a case report of a 61-year-old woman who has a history of bilateral idiopathic scleritis, keratitis, and uveitis for more than 20 years. She was diagnosed with total LSCD in her left eye based on clinical presentation alone and was confirmed as a candidate for limbal transplantation at several major tertiary eye care centers in the United States...
May 16, 2018: Cornea
https://www.readbyqxmd.com/read/29781890/complexities-of-the-diagnostic-process
#17
Barbara Schildkrout
The diagnostic process is a highly complex, problem-solving enterprise. Yet, traditional case reports have not focused directly on this endeavor. Physicians could use the case format to present actual experiences of getting to a diagnosis. This approach would allow for modeling of nonjudgmental, self-reflective practices and also provide information to aid in studying the diagnostic endeavor. Given that diagnostic errors in medicine are widespread and constitute a serious public health problem, it is crucial for physicians to understand the diagnostic process as one step toward improving error rates...
May 17, 2018: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/29781873/case-report-use-of-sports-and-performance-vision-training-to-benefit-a-low-vision-patient-s-function
#18
Daniel M Laby
SIGNIFICANCE: Despite our inability to attenuate the course of many ocular diseases that can ultimately lead to loss or significantly decreased visual function, this report describes a potential technique to aid such patients in maximizing the use of the vision that remains. PURPOSE: The aim of this study was to demonstrate the applicability of utilizing sports vision training to improve objective and subjective visuomotor function in a low-vision patient. CASE REPORT: A 37-year-old woman with Usher syndrome presented with reduced central visual acuity and visual field...
May 17, 2018: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/29781867/accelerated-onset-of-retinal-toxicity-from-hydroxychloroquine-use-with-concomitant-breast-cancer-therapy
#19
Aman Sharma, Alejandra M Maiz, William R Tucker, Catherine Cukras
PURPOSE: To report a case of accelerated retinal toxicity due to hydroxychloroquine (HCQ) use for treatment of Sjögren syndrome in a patient treated with concomitant chemotherapy for breast cancer. METHODS: Observational case report. RESULTS: A 56-year-old white woman using 400 mg HCQ (7.1 mg/kg real body weight) daily for a total of 2 years and 10 months for treatment of Sjögren syndrome with concomitant use of docetaxel and cyclophosphamide therapy (21-day cycle, 4 cycles) followed by anastrozole for breast cancer, presented with visual complaints and findings of severe HCQ toxicity...
May 16, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29781769/the-laparoscopic-management-of-median-arcuate-ligament-syndrome-and-its-long-term-outcomes
#20
Henry D De'Ath, Simon Wong, Karoly Szentpali, Shaw Somers, Tom Peck, Christian H Wakefield
BACKGROUND: Case reports and small series of the surgical and radiological management of median arcuate ligament syndrome (MALS) have been described, however, long-term outcome data are lacking. The purpose of this study was to review our experience of the laparoscopic management of MALS, and describe the long-term outcomes after surgical intervention. METHODS: Data were collected between 2005 and 2016 in a single U.K. institution. All patients with MALS who underwent laparoscopic decompression of the celiac artery were included...
May 21, 2018: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
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