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https://www.readbyqxmd.com/read/30316150/cognitive-characteristics-of-mitochondrial-diseases-in-children
#1
Hillary Shurtleff, Dwight Barry, Sirisak Chanprasert, Tim Firman, Molly Warner, Russell P Saneto
INTRODUCTION: This retrospective descriptive study was undertaken to further define the intelligence profiles of children with mitochondrial disorders, in the context of seizures and age of symptom onset. METHODS: We retrospectively identified forty-nine pediatric patients with definitive mitochondrial disease diagnoses and complete intelligence or adaptive functioning testing data. Patients were 0-216 months at onset of symptoms and 61-250 months of age at testing...
October 10, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/30311684/an-intravenous-fish-oil-based-lipid-emulsion-successfully-treats-intractable-pruritus-and-cholestasis-in-a-patient-with-mvid
#2
Lorenzo Anez-Bustillos, Duy T Dao, Alexis K Potemkin, Antonio R Perez-Atayde, Bram P Raphael, Alexandra N Carey, Daniel S Kamin, Jay Thiagarajah, McGreggor Crowley, Kathleen M Gura, Mark Puder
A PN-dependent 3-year-old male with MVID presented with a history of worsening jaundice and severe pruritus. He was managed at an outside institution with low dose soybean oil-based lipid emulsion (SOLE) Intralipid® (Fresenius-Kabi, Uppsala, Sweden) at 0.2 g/kg/day as a strategy to prevent PN-associated liver disease (PNALD). At 11 months of age he complained of significant pruritus without dermatologic findings. Ursodiol and diphenhydramine were administered with partial resolution. This article is protected by copyright...
October 12, 2018: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/30309234/prognosis-of-acute-intracranial-atherosclerosis-related-occlusion-after-endovascular-treatment
#3
Jin Soo Lee, Seong-Joon Lee, Joon Sang Yoo, Jeong-Ho Hong, Chang-Hyun Kim, Yong-Won Kim, Dong-Hun Kang, Yong-Sun Kim, Ji Man Hong, Jin Wook Choi, Bruce Ovbiagele, Andrew M Demchuk, Sung-Il Sohn, Yang-Ha Hwang
BACKGROUND AND PURPOSE: Little is known about prognosis after endovascular therapy (EVT) for acute large artery occlusion (LAO) caused by underlying intracranial atherosclerotic stenosis (ICAS). Therefore, we investigated the prognosis following EVT according to the underlying etiology of LAO. METHODS: Patients from the Acute Stroke due to Intracranial Atherosclerotic occlusion and Neurointervention-Korean Retrospective (ASIAN KR) registry (n=720) were included if their occlusion was in the intracranial anterior circulation and their onset-to-puncture time was <24 hours...
September 2018: Journal of Stroke
https://www.readbyqxmd.com/read/30306451/optimal-extent-of-superior-mesenteric-artery-dissection-during-pancreaticoduodenectomy-for-pancreatic-cancer-balancing-surgical-and-oncological-safety
#4
Yosuke Inoue, Akio Saiura, Atsushi Oba, Shoji Kawakatsu, Yoshihiro Ono, Takafumi Sato, Yoshihiro Mise, Takeaki Ishizawa, Yu Takahashi, Hiromichi Ito
BACKGROUND: We describe the short- and long-term outcomes for PDAC patients after tailored mesopancreas dissection using supracolic artery-first approach followed by adjuvant therapy. METHODS: This study analyzed 233 consecutive patients who underwent artery-first pancreaticoduodenectomy for PDAC. Dissection extent for the superior mesenteric artery (SMA) was categorized into three levels: level 2 (LV2) including regional lymph nodes, level 3 (LV3) with hemicircumferential nerve plexus dissection, and extended-level 3 (E-LV3) including borderline resectable cases for the SMA...
October 10, 2018: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/30306344/histopathological-classification-of-anti-neutrophil-cytoplasmic-antibody-associated-glomerulonephritis-in-a-nationwide-japanese-prospective-2-year-follow-up-cohort-study
#5
Kunihiro Yamagata, Joichi Usui, Michio Nagata, Hitoshi Sugiyama, Ken-Ei Sada, Eri Muso, Masayoshi Harigai, Koichi Amano, Tatsuya Atsumi, Shouichi Fujimoto, Yukio Yuzawa, Masaki Kobayashi, Takao Saito, Takafumi Ito, Nobuhito Hirawa, Sakae Homma, Hiroaki Dobashi, Naotaka Tsuboi, Akihiro Ishizu, Yoshihiro Arimura, Hirofumi Makino, Seiichi Matsuo
BACKGROUND: The prognostic value of the EUVAS-proposed histopathological classification of anti-neutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis has been evaluated throughout the world. Here, we performed a Japanese nationwide biopsy survey to assess the association between this histopathological classification and renal prognosis after 2-year follow-up in ANCA-associated glomerulonephritis. METHODS: We collected 67 renal biopsy materials of the 321 entries in the RemIT-JAV-RPGN cohort study, and assessed their histologies...
October 10, 2018: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/30297145/in-situ-administration-of-cytokine-combinations-induces-tumor-regression-in-mice
#6
Jinyu Zhang, Haochen Jiang, Haiyun Zhang
BACKGROUND: Recent advances in cancer immunotherapy suggest a possibility of harnessing the immune system to defeat malignant tumors, but the complex immunosuppressive microenvironment confines the therapeutic benefits to a minority of patients with solid tumors. METHODS: A lentivector-based inducible system was established to evaluate the therapeutic effect of cytokines in established tumors. Intratumoral injection of certain cytokine combination in syngeneic tumor models was conducted to assess the therapeutic potentials...
October 5, 2018: EBioMedicine
https://www.readbyqxmd.com/read/30296740/long-term-seizure-outcome-in-pediatric-patients-with-focal-cortical-dysplasia-undergoing-tailored-and-standard-surgical-resections
#7
Eva Martinez-Lizana, Susanne Fauser, Armin Brandt, Elisabeth Schuler, Gert Wiegand, Soroush Doostkam, Victoria San Antonio-Arce, Julia Jacobs, Thomas Bast, Mukesch Shah, Josef Zentner, Andreas Schulze-Bonhage
PURPOSE: Focal cortical dysplasia (FCD) is the major cause of focal intractable epilepsy in childhood. Here we analyze the factors influencing the success of surgical treatment in a large cohort of children with histologically ascertained FCD. METHOD: A retrospective study of the effects of FCD type, surgical intervention, and age at surgery in a pediatric cohort. RESULTS: A total of 113 patients (71 male; mean age at surgery 10.3 years; range 0-18) were analyzed; 45 had undergone lesionectomy, 42 lobectomy, 18 multi-lobectomy, and eight hemispherotomy...
September 26, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/30295710/diadenosine-polyphosphate-analogue-appch2ppa-suppresses-seizures-by-enhancing-adenosine-signaling-in-the-cortex
#8
Alexandre Pons-Bennaceur, Vera Tsintsadze, Thi-Thien Bui, Timur Tsintsadze, Marat Minlebaev, Mathieu Milh, Didier Scavarda, Rashid Giniatullin, Raisa Giniatullina, Sergey Shityakov, Michael Wright, Andrew D Miller, Natalia Lozovaya, Nail Burnashev
Epilepsy is a multifactorial disorder associated with neuronal hyperexcitability that affects more than 1% of the human population. It has long been known that adenosine can reduce seizure generation in animal models of epilepsies. However, in addition to various side effects, the instability of adenosine has precluded its use as an anticonvulsant treatment. Here we report that a stable analogue of diadenosine-tetraphosphate: AppCH2ppA effectively suppresses spontaneous epileptiform activity in vitro and in vivo in a Tuberous Sclerosis Complex (TSC) mouse model (Tsc1+/-), and in postsurgery cortical samples from TSC human patients...
October 6, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/30294138/verapamil-as-an-adjuvant-treatment-for-drug-resistant-epilepsy
#9
S Lakshmikanthcharan, Mohamed Hisham, S K Chaitanya Juluri, Sivakumar Mundilipayalam Nandakumar
Almost one-third of the people suffering from epilepsy continue to have seizures in spite of using appropriate antiepileptics. Pharmacoresistance is defined as the failure to achieve seizure control with two or more anticonvulsant medications at appropriate daily dosage. Here, we discuss one such gentleman whose seizures had been intractable despite multiple antiepileptic drugs in maximum tolerable doses. Verapamil, a calcium channel blocker, was used for its P-glycoprotein inhibition properties to overcome the pharmacoresistance in this patient with satisfactory seizure control...
September 2018: Indian Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/30292452/lymphaticovenous-bypass-of-the-thoracic-duct-for-the-treatment-of-chylous-leak-in-central-conducting-lymphatic-anomalies
#10
Amir H Taghinia, Joseph Upton, Cameron C Trenor, Ahmad I Alomari, Anna P Lillis, Raja Shaikh, Patricia E Burrows, Steven J Fishman
BACKGROUND: Central conducting lymphatic anomalies (CCLA) may cause chylous leaks and protein-losing enteropathy (PLE) owing to dysfunction of the central lymphatic channels. Most of the treatment strategies for these conditions are palliative and provide transient improvement. METHODS: We treated 14 patients with intractable chylous leak and/or PLE using a novel technique of lymphaticovenous bypass of the terminal portion of the thoracic duct. Chylous leaks occurred in multiple different anatomic sites...
September 9, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/30289171/managing-tensions-in-assessment-moving-beyond-either-or-thinking
#11
Marjan J B Govaerts, Cees P M van der Vleuten, Eric S Holmboe
CONTEXT: In health professions education, assessment systems are bound to be rife with tensions as they must fulfil formative and summative assessment purposes, be efficient and effective, and meet the needs of learners and education institutes, as well as those of patients and health care organisations. The way we respond to these tensions determines the fate of assessment practices and reform. In this study, we argue that traditional 'fix-the-problem' approaches (i.e. either-or solutions) are generally inadequate and that we need alternative strategies to help us further understand, accept and actually engage with the multiple recurring tensions in assessment programmes...
October 5, 2018: Medical Education
https://www.readbyqxmd.com/read/30281956/unsupervised-cluster-analysis-of-chronic-rhinosinusitis-with-nasal-polyp-using-routinely-available-clinical-markers-and-its-implication-in-treatment-outcomes
#12
Jeong-Whun Kim, Gene Huh, Chae-Seo Rhee, Chul Hee Lee, Jaebong Lee, Jin-Hang Chung, Sung-Woo Cho
BACKGROUND: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a multidimensional disease. In this study, we performed an unsupervised cluster analysis of CRSwNP using routinely available clinical markers. METHODS: We conducted a retrospective review of patients treated with endoscopic sinus surgery due to medically intractable bilateral CRSwNP from 2009 to 2017. Unsupervised cluster analysis was performed using a patient's clinical features, including age, peripheral blood eosinophil, tissue eosinophilia, Lund-Mackay computed tomography (CT) scores, ratio of the CT scores for the ethmoid sinus and maxillary sinus (E/M ratio), and comorbid asthma...
October 3, 2018: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/30280376/grin2d-variants-in-three-cases-of-developmental-and-epileptic-encephalopathy
#13
Naomi Tsuchida, Keisuke Hamada, Masaaki Shiina, Mitsuhiro Kato, Yu Kobayashi, Jun Tohyama, Kazue Kimura, Kyoko Hoshino, Vigneswari Ganesan, Keng Wee Teik, Mitsuko Nakashima, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Satoko Miyatake, Naomichi Matsumoto
N-methyl-D-aspartate (NMDA) receptors are glutamate-activated ion channels that are widely distributed in the central nervous system and essential for brain development and function. Dysfunction of NMDA receptors has been associated with various neurodevelopmental disorders. Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy. In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy...
October 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30280085/spinal-stenosis-in-the-absence-of-spondylolisthesis-can-interlaminar-stabilization-at-single-and-multi-levels-provide-sustainable-relief
#14
Celeste Abjornson, Byung-Jo Victor Yoon, Tucker Callanan, Daniel Shein, Samuel Grinberg, Frank P Cammisa
Background: In the absence of spondylolisthesis, fusion procedures are generally not recommended. However, decompression alone often does not provide long-term clinical success of intractable leg and back pain. Decompression with interlaminar stabilization (ILS) offers a new option within the clinical continuum of care by providing a nonfusion surgical alternative. The objective of this study is to examine the sustainability of decompression with ILS and to understand the clinical success at either 1 or 2 levels as a surgical treatment for nonspondylolisthesis patients with spinal stenosis...
January 2018: International Journal of Spine Surgery
https://www.readbyqxmd.com/read/30280066/netherton-syndrome-a-case-report-and-review-of-literature
#15
Hafiz M Kashif Saleem, Muhammad Faizan Shahid, Amir Shahbaz, Atif Sohail, Muhammad Arslan Shahid, Issac Sachmechi
Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by a triad of congenital ichthyosiform erythroderma (CIE) or ichthyosis linearis circumflexa (ILC), hair shaft abnormalities, and atopic diathesis (elevated serum IgE ). We report a case of a two-year-old boy presented with intractable pruritus, scaling, dry skin and generalized eczematous lesions resistant to atopic dermatitis therapy. Netherton syndrome misdiagnosed as atopic dermatitis due to the presence of eczematous skin lesions and allergic problems...
July 30, 2018: Curēus
https://www.readbyqxmd.com/read/30279854/successful-combined-intravenous-and-subcutaneous-immunoglobulin-treatment-for-intractable-protein-losing-enteropathy-in-a-patient-long-after-fontan-type-operation
#16
Yoshiyuki Kagiyama, Shintaro Kishimoto, Hironaga Yoshimoto, Yoshiyuki Kudo, Kenji Gotoh, Kenji Suda
A 20-year-old patient, who had double outlet right ventricle, mitral atresia, pulmonary atresia, and bilateral superior vena cava and underwent successful lateral tunnel total cavo-pulmonary connection at 6 years old, presented with frequent watery diarrhea, general malaise, and tetany. He was known to have intractable protein-losing enteropathy (PLE) from 7 years of age that was resistant to various treatments. To keep hemodynamics stable, he required intravenous albumin infusion every day. Fontan fenestration partially improved his condition and allowed to stop albumin infusion, however still he showed muddy stool and cachexia with low serum albumin <20 g/L and immunoglobulin <3 g/L...
February 2018: Journal of Cardiology Cases
https://www.readbyqxmd.com/read/30279113/comparative-analysis-of-methicillin-resistant-staphylococcus-aureus-isolated-from-outpatients-of-dermatology-unit-in-hospitals-and-clinics
#17
Hidemasa Nakaminami, Taku Sugiyama, Yuu Okamura, Mamiko Hanawa, Masaki Abou, Kaori Sawada, Yoshiyuki Chiba, Yoko Kobayashi, Satoru Kawasaki, Toru Ueki, Sakae Funatsu, Tetsuo Nagatani, Norihisa Noguchi
Community-onset methicillin-resistant Staphylococcus aureus (CO-MRSA) is a causative agent of intractable skin infections. In general, clinical symptoms of hospital outpatients with skin infections are severer than those of clinic patients. Hence, molecular epidemiological features of the CO-MRSA strains from hospital outpatients are predicted to be different from those of clinic patients. Here, we conducted a comparative analysis for CO-MRSA isolates from outpatients with impetigo in hospitals and clinics located in the same district of Tokyo, Japan...
September 29, 2018: Journal of Infection and Chemotherapy: Official Journal of the Japan Society of Chemotherapy
https://www.readbyqxmd.com/read/30278917/isolated-pancreatic-tail-remnants-after-transgastric-necrosectomy-can-be-observed
#18
Monica M Dua, Christopher W Jensen, Shai Friedland, Patrick J Worth, George A Poultsides, Jeffrey A Norton, Walter G Park, Brendan C Visser
BACKGROUND: Severe necrotizing pancreatitis may result in midbody necrosis and ductal disruption leaving an isolated pancreatic tail. The purpose of this study was to characterize outcomes among patients with an isolated tail remnant who underwent transgastric drainage or necrosectomy (endoscopic or surgical) and determine the need for subsequent operative management. MATERIALS AND METHODS: Patients with necrotizing pancreatitis and retrogastric walled-off collections treated by surgical transgastric necrosectomy or endoscopic cystgastrostomy ± necrosectomy between 2009 and 2017 were identified by a retrospective chart review...
November 2018: Journal of Surgical Research
https://www.readbyqxmd.com/read/30276728/refractory-chylous-pleural-effusion-with-systemic-lupus-erythematosus-surgical-treatment-when-steroid-immunosuppressant-resistant
#19
Peng Song, JingCheng Zhang, CongCong Shang, Li Zhang
We analyzed four cases of systemic lupus erythematosus (SLE) with chylous pleural effusion treated in our hospital from June 2013 to May 2017. The three females and one male ranged in age from 22 to 33 years. The length of disease course was 20 to 120 months. Treatment with glucocorticoids and immunosuppressants (cyclophosphamide or cyclosporine A) did not reduce chylous pleural effusion. Lymphatic obstruction was found in all patients after direct lymphangiography and the pleural effusion was significantly reduced after surgery...
October 1, 2018: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/30275670/gut-microbiota-the-ketogenic-diet-and-epilepsy
#20
COMMENT
Egidio Spinelli, Robyn Blackford
Investigators from the Department of Pediatric Neurology at the Children's Hospital of Fudan University assessed the gut microbiome in pediatric patients with intractable non-lesional epilepsy who were treated with the ketogenic diet (KD) comparing differences between responders and non-responders over a period of 6 months.
September 21, 2018: Pediatric neurology briefs
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