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https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#1
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635305/factors-modifying-performance-of-a-novel-citizen-text-message-alert-system-in-improving-survival-of-out-of-hospital-cardiac-arrest
#2
Ruud Wm Pijls, Patty J Nelemans, Braim M Rahel, Anton Pm Gorgels
AIMS: Recently we found that the text message alert system increases survival of sudden out-of-hospital cardiac arrest. The aim of the present study is to explore the contribution of the system to survival specifically in resuscitation settings with prolonged delay of start of resuscitation. METHODS AND RESULTS: Data were used from consecutive patients resuscitated for out-of-hospital cardiac arrest during a two-year period in the Dutch province Limburg. Survival of 291 cases with out-of-hospital cardiac arrest where one or more volunteers attended (Scenario 2) was compared with survival of 131 cases with out-of-hospital cardiac arrest where no volunteers attended and only standard care was given (Scenario 1)...
March 1, 2017: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/28634563/aspiration-of-aluminum-beverage-can-tab-case-report-and-literature-review
#3
Alhasan N Elghouche, Brian C Lobo, Jonathan Y Ting
We describe the case of a 16-year-old male who aspirated a beverage can tab resulting in significant functional impairment. Since the introduction of beverage can opening tabs ("pop-tops" or "pull-tabs") nearly 50 years ago, five cases of their aspiration have been reported in the literature and this is the first case to report tracheal lodgment. We describe the clinical course for this patient including the inadequacy of radiographic evaluation and a significant delay in diagnosis. We highlight unique features of small aluminum foreign bodies that require consideration and mention a potential change in epidemiology associated with evolving product design...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28634504/the-reemergence-of-eeg-reactivity-after-cardiac-arrest
#4
Joseph Zachariah, Alejandro A Rabinstein
Electroencephalogram (EEG) reactivity has been increasingly utilized in prognostication after cardiac arrest. Recent studies have demonstrated a false-positive rate of 0% in predicting poor outcome with a nonreactive EEG. The reemergence of reactivity after an initial nonreactive EEG has been noted in cases of drug intoxication, rewarming after hypothermia, and after discontinuing sedation. This is the first case describing the reemergence of EEG reactivity without the confounding factors listed above. We describe a case of resuscitated cardiac arrest with initial EEG demonstrating a lack of reactivity...
July 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28634313/-a-case-of-bilateral-traumatic-carotid-cavernous-fistula
#5
Hanae Terashima, Takashi Higa, Koichi Kato, Tadasuke Tominaga, Masanori Nakagawa, Shigeru Kadoyama, Hiroshi Ujiie, Akira Teramoto
Bilateral traumatic carotid-cavernous fistula(CCF)is rare. It is most commonly caused by a direct head or face injury involving the cavernous sinus and develops immediately after trauma. We report a case of bilateral traumatic CCF that occurred as an intracerebral hematoma(ICH)mimicking apoplexy 5 months later. We treated the patient with point occlusion of venous reflux causing an ICH using coil embolization to remove the hematoma. Three days after we performed trans-venous occlusion of the intercavernous connection and right cavernous sinus using coil embolization through the right inferior petrosal vein, it was identified that the left CCF was occluded after first embolization into the left sylvian vein...
June 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28628018/autoimmune-limbic-encephalitis-case-reports
#6
K Kobaidze, A Harrison, Y Burklin, V Patidar, M Riccardi
Limbic encephalitis (LE) is an autoimmune or paraneoplastic disease that affects the medial temporal lobes. The patient will usually present with cognitive impairment, psychiatric changes, and seizures. Autoimmune limbic encephalitis (LE) is a challenging diagnosis as it is not always included in the typical paraneoplastic/autoimmune panels. Anti-GAD antibodies are associated with various disease including type I diabetes mellitus, various autoimmune processes, some neoplastic and infectious diseases. Thus, it is not as specific as some of the antibodies causing LE...
May 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28625621/patterns-of-initial-and-intracranial-failure-in-metastatic-egfr-mutant-non-small-cell-lung-cancer-treated-with-erlotinib
#7
Suchit H Patel, Andreas Rimner, Amanda Foster, Zhigang Zhang, Kaitlin M Woo, Helena A Yu, Gregory J Riely, Abraham J Wu
OBJECTIVES: Patients with metastatic EGFR-mutant (mEGFRmt) NSCLC have favorable survival when treated with erlotinib. We hypothesized that treatment failure in most patients is limited to initial sites of disease, in which case incorporating local therapy such as radiation might further delay progression. We therefore analyzed patterns and predictors of failure in a large cohort of such patients. MATERIALS AND METHODS: We reviewed 189 patients treated with erlotinib for mEGFRmt NSCLC...
June 2017: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/28625038/chronic-liver-disease-is-a-risk-factor-for-malnutrition-and-growth-retardation-in-children
#8
Ariani Dewi Widodo, Eva J Soelaeman, Novitria Dwinanda, Prajnya P Narendraswari, Budi Purnomo
BACKGROUND: Despite distinct advancements in nutritional therapy, malnutrition and growth retardation remain inevitable consequences of chronic liver disease. The global prevalence of chronic liver disease in children is about 3%, with a quarter undernourished. Malnutrition itself is a negative prognostic indicator of survival. Further research is necessary for delivering adequate nutritional support to reduce morbidity and mortality. OBJECTIVE: To evaluate the nutritional status and growth of children with chronic liver disease and its contributing factors...
June 2017: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28624163/simultaneous-congenital-mucocoele-of-the-blandin-n%C3%A3-hn-glands-and-teratoma-of-the-tongue-early-management-and-follow-up-at-one-year
#9
Nathalie Pham Dang, Anne-Claire Melka, Hélène Laurichesse Delmas, Isabelle Barthélémy
Mucocoele of the Blandin-Nühn glands and teratomas of the tongue are rare in newborn babies. We present what is to our knowledge the first documented case of both at the same time, and describe management and follow up over 12 months after the birth. Prenatal diagnosis defined the treatment plan during delivery to establish an airway for the baby promptly. A normal delivery is possible if the cyst is anterior, and can be punctured during delivery. Delayed excision reduces the possibility of oedema and obstruction of the airway, ensures complete resection, avoids recurrence, and confirms the diagnosis...
June 14, 2017: British Journal of Oral & Maxillofacial Surgery
https://www.readbyqxmd.com/read/28623881/cardiac-tamponade-associated-with-delayed-ascending-aortic-perforation-after-blunt-chest-trauma-a-case-report
#10
Dae Woong Ryu, Mi Kyung Lee
BACKGROUND: Cardiac tamponade due to aortic injury after blunt trauma is a rare and potentially fatal injury. Most aortic injuries caused by blunt trauma present as aortic dissection or rupture of the aortic isthmus. Several cases of delayed aortic injury have been reported. However, all of these injuries were observed in the descending aorta because they had been caused by a posterior rib fracture. CASE PRESENTATION: We report the first case of cardiac tamponade associated with delayed ascending aortic perforation 2 weeks after blunt trauma...
June 17, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28623780/preschoolers-disclosures-of-child-sexual-abuse-examining-corroborated-cases-from-swedish-courts
#11
Mikaela Magnusson, Emelie Ernberg, Sara Landström
Young victims of child sexual abuse can - for a range of developmental, motivational and contextual reasons - have difficulties disclosing their experiences. In the present study, corroborated court cases concerning 57 preschoolers' disclosures of sexual abuse were examined using qualitative and quantitative methodologies. Together, the cases involved 53 girls and 4 boys between 2-6 years (M=4.2, SD=1.2) during the (first) incident of abuse. The children were between 3-7 years (M=5.3, SD=1.2) during their police interview...
June 14, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28619972/staged-curative-treatment-of-a-complex-direct-carotid-cavernous-fistula-with-a-large-arterial-defect-and-an-oversized-internal-carotid-artery
#12
Matthew T Bender, Li-Mei Lin, Alexander L Coon, Geoffrey P Colby
This is a case of a high-flow, post-traumatic direct carotid-cavernous fistula with a widened arterial defect and a large-diameter internal carotid artery (ICA). The unique aspect of this case is the oversized ICA, >8mm in diameter, which is both a pathological and a therapeutic challenge, given the lack of available neuroendovascular devices for full vessel reconstruction. We present a planned two-stage embolisation paradigm for definitive treatment. Transarterial coil embolisation is performed as the first stage to disconnect the fistula and normalise flow in the ICA...
June 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28619737/acute-massive-gastric-dilatation-causing-ischaemic-necrosis-and-perforation-of-the-stomach
#13
Maitham A Moslim, Jay Mittal, Gavin A Falk, Jeffrey S Ustin, Gareth Morris-Stiff
Acute massive gastric dilatation (AMGD) is a rare distinctive condition but associates with high morbidity and mortality. Though usually seen in patients with eating disorders, many aetiologies of AMGD have been described. The distension has been reported to cause gastric necrosis with or without perforation, usually within 1-2 days of an inciting event of AMGD.We report the case of a 58-year-old male who presented with gastric perforation associated with AMGD 11 days after surgical relief of a proximal small bowel obstruction...
June 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28619495/results-of-atypical-hemifacial-spasm-with-microvascular-decompression-14-cases-reported-and-lectures-reviewed
#14
Hua Zhao, Xin Zhang, Ying Zhang, Yin-da Tang, Jin Zhu, Xu-Hui Wang, Ting-Ting Ying, Shi-Ting Li
OBJECTIVE: There were few studies reporting atypical hemifacial spasm(AHFS) and the mechanism of AHFS is still unclear. The purpose of this article was to study the etiology, prognosis and treatment of atypical hemifacial spasm. METHODS: We retrospectively analyzed the clinical data for 14 consecutive patients that underwent microvascular decompression(MVD) for AHFS from January 2014 to December 2015. The clinical feature, outcome and complications were observed...
June 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28619068/late-onset-jaw-and-teeth-pain-mimicking-trigeminal-neuralgia-associated-with-chronic-vagal-nerve-stimulation-case-series-and-review-of-the-literature
#15
Gabriela Timarova, Andrej Šteňo
BACKGROUND: Vagal nerve stimulation (VNS) for refractory epilepsy is well established. Trigeminal neuralgia itself is a common disease in adults, and thus, late-onset pain in the trigeminal region under VNS, which is extremely rare, may not be recognized as caused by VNS. CASE PRESENTATION: Two patients with drug-resistant symptomatic epilepsy treated with chronic VNS experienced stimulation-related pain in the lower and upper jaw and teeth on the side of stimulation...
June 15, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28616300/late-cardiac-tamponade-following-nuss-procedure-for-pectus-excavatum
#16
Jong-Hyun Baek, Young-Uk Lee, Tae-Eun Jung, Dong-Hyup Lee, Jung-Cheul Lee
The Nuss procedure is a recently developed technique for correction of pectus excavatum. A 23-year-old female patient presented at our emergency department with clinical signs of cardiac tamponade, which required an emergency procedure. Sixteen months ago, she underwent the Nuss procedure with a single bar. Her preoperative Haller index was 5. We report on a case of delayed recurrent cardiac tamponade that occurred 16 and 18 months after the patient underwent the Nuss procedure; in this case, we treated the patient with pericardiocentesis the first time and performed pericardial window creation with bar removal the second time...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28615205/intrasubtype-b-hiv-1-superinfection-correlates-with-delayed-neutralizing-antibody-response
#17
Gabriel A Wagner, Elise Landais, Gemma Caballero, Pham Phung, Sergei L Kosakovsky Pond, Pascal Poignard, Douglas D Richman, Susan J Little, Davey M Smith
Understanding whether the neutralizing antibody (NAb) response impacts HIV-1 superinfection and how superinfection subsequently modulates the NAb response can help clarify correlates of protection from HIV exposures, and better delineate pathways of NAb development. We examined associations between the development of NAb and the occurrence of superinfection in a well-characterized, antiretroviral therapy (ART) naive, primary infection cohort of men who have sex with men. Deep sequencing was applied to blood plasma samples from the cohort to detect cases of superinfection...
June 14, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28615051/the-pathway-to-consultation-for-rheumatoid-arthritis-exploring-anticipated-actions-between-the-onset-of-symptoms-and-face-to-face-encounter-with-a-healthcare-professional
#18
Gwenda Simons, Sophie Lumley, Marie Falahee, Kanta Kumar, Christian D Mallen, Rebecca J Stack, Karim Raza
BACKGROUND: When people first experience symptoms of rheumatoid arthritis (RA) they often delay seeking medical attention resulting in delayed diagnosis and treatment. This research assesses behaviours people might engage in prior to, or instead of, seeking medical attention and compares these with behaviours related to illnesses which are better publicised. METHODS: Thirty-one qualitative interviews with members of the general public explored intended actions in relation to two hypothetical RA vignettes (with and without joint swelling) and two non-RA vignettes (bowel cancer and angina)...
June 14, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28611555/a-case-of-gastric-antral-vascular-ectasia-which-was-aggravated-by-acid-reducer
#19
Yukiomi Nakade, Tomonori Ozeki, Hiroyuki Kanamori, Tadahisa Inoue, Takaya Yamamoto, Yuji Kobayashi, Norimitsu Ishii, Tomohiko Ohashi, Kiyoaki Ito, Masashi Yoneda
Gastric antral vascular ectasia (GAVE) is known to be characterized by red patches or spots in a diffuse or linear array in the antrum of the stomach. The precise etiology of GAVE remains to be elucidated. Argon plasma laser coagulation (APC) has been used to control oozing from GAVE; however, there is no satisfactory long-term effect of APC in the control of oozing from GAVE. An acid reducer is used after APC because even physiological acid exposure might delay post-APC ulcer healing. We describe the case of a patient who had used an acid reducer and experienced repeated gastrointestinal hemorrhage due to GAVE...
January 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28611061/clinical-events-and-echocardiographic-lesion-progression-rate-in-subjects-with-mild-or-moderate-aortic-regurgitation
#20
Sveeta Badiani, Jet van Zalen, Saad Saheecha, Lesley Hart, Ann Topham, Nikhil Patel, Lydia Sturridge, Andrew Marshall, Neil Sulke, Stephen Furniss, Guy Lloyd
A 69 year old male, an ex-smoker, was admitted with ongoing chest pain of 11 hours duration. Past medical history included treated hypertension and gastro-oesophageal reflux disease. He delayed seeking medical attention as he assumed the pain to be due to indigestion and kept taking antacids without much symptomatic relief. Clinical examination on arrival was unremarkable. Admission 12 lead electrocardiogram (ECG) was diagnostic of a recent anterolateral myocardial infarction (MI) (Figure 1a). Bedside trans-thoracic echocardiogram (TTE) confirmed an established anterolateral MI (Video 1, Figure 1b)...
June 13, 2017: Echo Research and Practice
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