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https://www.readbyqxmd.com/read/29342997/-x-linked-inhibitor-of-apoptosis-deficiency-manifested-as-crohn-s-disease-a-case-report-and-literature-review
#1
L J Xu, Y Y Luo, J D Yu, J G Lou, Y H Fang, J Chen
Objective: To analyze the clinical characteristics of X-linked inhibitor of apoptosis (XIAP) deficient patients with clinical manifestation of Crohn's disease. Methods: Clinical manifestations, laboratory investigations, genetic testing and therapeutic interventions of one case of XIAP deficiency who was admitted to Department of Gastroenterology in Children's Hospital, Zhejiang University School of Medicine in May 2016 were summarized. PubMed and Chinese database for articles published from January 2016 to June 2017 were searched using the key words of'Crohn's disease'and'XIAP', and the relevant literature was reviewed...
January 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29187023/biopsy-proven-hepatocellular-carcinoma-in-a-53-year-old-woman-with-arginase-deficiency
#2
Matthew Koo, Gerald S Lipshutz, Stephen D Cederbaum, Charles Lassman
Arginase 1 deficiency, the least common urea cycle disorder, commonly presents with childhood-onset spastic paraplegia, progressive neurologic impairment, epilepsy, and developmental delay or regression. Biopsy-proven cirrhosis and hepatocellular carcinoma diagnosed via clinical and imaging studies (but without biopsy confirmation) have been previously reported. We report, herein, a case of a 53-year-old woman with arginase 1 deficiency who developed symptoms of "abdominal bloating." Imaging studies (ultrasound and magnetic resonance imaging) demonstrated 2 dominant hepatic masses, measuring 5...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29181526/cortical-structures-associated-with-human-blood-pressure-control
#3
Nuria Lacuey, Johnson P Hampson, Wanchat Theeranaew, Bilal Zonjy, Ajay Vithala, Norma J Hupp, Kenneth A Loparo, Jonathan P Miller, Samden D Lhatoo
Importance: A better understanding of the role of cortical structures in blood pressure control may help us understand cardiovascular collapse that may lead to sudden unexpected death in epilepsy (SUDEP). Objective: To identify cortical control sites for human blood pressure regulation. Design, Setting, and Participants: Patients with intractable epilepsy undergoing intracranial electrode implantation as a prelude to epilepsy surgery in the Epilepsy Monitoring Unit at University Hospitals Cleveland Medical Center were potential candidates for this study...
November 27, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/29175662/comorbidities-in-relation-to-fatality-of-first-myocardial-infarction
#4
Hedley Knewjen Quintana, Imre Janszky, Alkass Kanar, Bruna Gigante, Henrik Druid, Anders Ahlbom, Ulf de Faire, Johan Hallqvist, Karin Leander
INTRODUCTION: Present knowledge concerning potential associations between comorbidities and the fatality of a first myocardial infarction (MI) is limited. AIM: To identify comorbidities in 45-70-year-old individuals who suffered a first MI and died within 7 days in Stockholm County from 1992-1994. In addition, to assess how each of the comorbidities identified, as well as the number of hospitalizations during the 10-year period prior to the MI, was associated with MI fatality...
November 14, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29125376/extending-julius-seizure-a-bang-sensitive-gene-as-a-model-for-studying-epileptogenesis-cold-shock-and-a-new-insertional-mutation
#5
Derek Dean, Hannah Weinstein, Seema Amin, Breelyn Karno, Emma McAvoy, Ronald Hoy, Andrew Recknagel, Casey Jarvis, David Deitcher
The bang-sensitive (BS) mutants of Drosophila are an important model for studying epilepsy. We recently identified a novel BS locus, julius seizure (jus), encoding a protein containing two transmembrane domains and an extracellular cysteine-rich loop. We also determined that jus(sda)(iso7.8), a previously identified BS mutation, is an allele of jus by recombination, deficiency mapping, complementation testing, and genetic rescue. RNAi knockdown revealed that jus expression is important in cholinergic neurons and that the critical stage of jus expression is the mid-pupa...
November 10, 2017: Fly
https://www.readbyqxmd.com/read/29071466/cardiovascular-autonomic-effects-of-vagus-nerve-stimulation
#6
REVIEW
Iñigo Garamendi-Ruiz, Juan Carlos Gómez-Esteban
The vagus nerve is responsible for the parasympathetic innervation of the major thoracic and abdominal organs. It also carries sensory afferent fibres from these viscera and reaches different brain structures. These connections have proven useful in the treatment of different diseases. Afferent stimulation of the left vagus nerve is used to treat epilepsy and major depression, and stimulation of the right vagus nerve is being tried for the treatment of heart failure. The device used for the therapy delivers intermittent stimuli...
October 25, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28988213/management-of-pneumatosis-intestinalis-in-children-over-the-age-of-6-months-a-conservative-approach
#7
Leel Nellihela, Mohamed Mutalib, David Thompson, Kammermeier Jochen, Manasvi Upadhyaya
BACKGROUND: Pneumatosis intestinalis (PI) is an uncommon and poorly understood condition. Although it can be an incidental finding in asymptomatic individuals, it can also be secondary to life-threatening bowel ischaemia and sepsis. In premature infants, it is a pathognomonic sign of necrotising enterocolitis. There is no consensus regarding management and long-term outcome of children with PI. AIM: Review of our experience of PI in children beyond the early infantile period...
October 7, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28885121/epilepsy-headache-and-abdominal-pain-after-shunt-surgery-for-idiopathic-normal-pressure-hydrocephalus-the-inph-crash-study
#8
Jenny Larsson, Hanna Israelsson, Anders Eklund, Jan Malm
OBJECTIVE Adverse events related to shunt surgery are common and might have a negative effect on outcome in patients with idiopathic normal pressure hydrocephalus (INPH). The authors' objectives were to establish the frequencies of epilepsy, headache, and abdominal pain and determine their impact on patient quality of life (QOL), in long-term follow-up after shunt surgery for INPH. METHODS One hundred seventy-six shunt-treated patients with INPH (mean age 74 years) and 368 age- and sex-matched controls from the population were included...
September 8, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28865097/suspected-phenobarbital-induced-pseudolymphoma-in-a-dog
#9
R Lampe, J Manens, N Sharp
Pseudolymphoma is a drug reaction to anti-epileptics that is well recognized in humans; it has been reported in one cat but not dogs. In this report, lymphoma-like clinical signs are suspected to be secondary to phenobarbital administration in a dog. A 2.5-year-old male, neutered Shepherd mix presented for a 3-day history of progressive ataxia, dazed mentation, pyrexia, and lethargy. While hospitalized, the dog developed generalized lymphadenopathy and sustained pyrexia. The dog was receiving levetiracetam and phenobarbital for epilepsy, and serum concentrations of both were within standard therapeutic ranges...
September 2, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28452100/pediatric-psoriasis-should-we-be-concerned-with-comorbidity-cross-sectional-study
#10
Awatef Kelati, Hanane Baybay, Adil Najdi, Safae Zinoune, Fatima Z Mernissi
BACKGROUND: Similarly to psoriasis in adults, recent research has linked psoriasis to several comorbidities in children. The aim of this study was therefore to describe comorbidities associated with pediatric psoriasis, to investigate their relationship with psoriasis characteristics and severity, and to perform a review of the literature. METHODS: A cross-sectional study was performed on a sample of Moroccan children with psoriasis, in 2014-2016. RESULTS: A total of 64 pediatric psoriasis patients had metabolic comorbidities in association with psoriasis; 20 children had non-metabolic comorbidities; and 76 children had no comorbidity...
April 28, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28255730/medial-temporal-lobe-epilepsy-associated-with-hippocampal-sclerosis-is-a-distinctive-syndrome
#11
Young Joo No, Chiara Zavanone, Franck Bielle, Vi-Huong Nguyen-Michel, Yves Samson, Claude Adam, Vincent Navarro, Sophie Dupont
Epileptic syndromes are distinctive disorders with specific features, which when taken together, permit a specific diagnosis. There is actually a debate on that medial temporal lobe epilepsy with hippocampal sclerosis is an epileptic syndrome. To address this issue, we searched for discriminative semiological features between temporal lobe epilepsy patients with hippocampal sclerosis (TLE-HS patients or group 1), TLE patients with medial structural lesion other than hippocampal sclerosis or in MRI-negative cases with medial onset on further investigations (group 2) and lateral TLE patients (LTLE or group 3)...
May 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28250326/medication-and-driving-appropriate-interventions
#12
REVIEW
Masahito Hitosugi
Sudden illness while driving has been identified as a major cause of vehicle collisions, accounting for approximately 1 in 10 collisions. Because most drivers who experience sudden illnesses while driving do not perform avoidance maneuvers, the improvement of drivers' health is being promoted as a traffic safety strategy. Although stroke, heart disease, and epilepsy are common causes of sudden illness, common symptoms, such as abdominal cramps, vertigo, and syncope can also cause problems during driving. We found that regular referral to physicians was significantly less common among drivers who experienced health-related vehicle collisions or incidents...
2017: Yakugaku Zasshi: Journal of the Pharmaceutical Society of Japan
https://www.readbyqxmd.com/read/28245538/-improvement-in-hyperglysemia-following-unilateral-adrenalectomy-for-acth-independent-macronodular-adrenal-hyperplasia-aimah-a-case-report
#13
REVIEW
Junichi Ikeda, Kouei Muguruma, Takaaki Inoue, Teruhisa Nishida, Shigenari Kawakita, Takashi Murota, Haruyuki Ohsugi, Nae Takizawa, Hidefumi Kinoshita, Tadashi Matsuda, Amika Noda, Keita Utsunomiya
Adrenal corticotropin (ACTH) -independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing's syndrome. Bilateral adrenalectomy is the treatment of choice, but lifetime steroid replacement is essential. Here we report a case of AIMAH whose hyperglycemia was improved following unilateral adrenalectomy. A 42-year-old woman with serious intellectual disability and intractable epilepsy presented with polydipsia. Casual blood glucose and hemoglobin A1c (HbA1c) were 322 mg/dl and 8.5%, respectively...
January 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/27980744/abdominal-epilepsy-an-uncommon-cause-of-chronic-and-recurrent-abdominal-pain-a-case-report
#14
Bonaventura C T Mpondo, Godfrey Mwasada, Azan A Nyundo
Abdominal epilepsy is an uncommon cause of paroxysmal abdominal pain. It is relatively common in children, but very rare in adults. We report a case of 38-year-old, who reported with recurrent abdominal pain for 2 years. Electroencephalography confirmed the diagnosis; he responded well to carbamazepine and remains symptom-free on follow-up.
December 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27917225/abdominal-epilepsy-as-an-unusual-cause-of-abdominal-pain-a-case-report
#15
Yilmaz Yunus, Ustebay Sefer, Ulker Ustebay Dondu, Ozanli Ismail, Ehi Yusuf
INTRODUCTION: Abdominal pain, in etiology sometimes difficult to be defined, is a frequent complaint in childhood. Abdominal epilepsy is a rare cause of abdominal pain. OBJECTIVES: In this article, we report on 5 year old girl patient with abdominal epilepsy. METHODS: Some investigations (stool investigation, routine blood tests, ultrasonography (USG), electrocardiogram (ECHO) and electrocardiograpy (ECG), holter for 24hr.) were done to understand the origin of these complaints; but no abnormalities were found...
September 2016: African Health Sciences
https://www.readbyqxmd.com/read/27891434/abdominal-epilepsy-in-an-adult-a-diagnosis-often-missed
#16
Devavrat G Harshe, Sneha D Harshe, Gurudas R Harshe, Gayatri G Harshe
Abdominal Epilepsy (AE) is a variant of temporal lobe epilepsy and is commonly seen in pediatric age group. There are however, multiple reports of abdominal epilepsy in adolescents and even in adults. Chronic and recurrent gastrointestinal symptoms with one or more neuropsychiatric manifestations are often the presenting picture for a patient with AE. Such patients therefore, are more likely to consult a general practioner, a physician, a surgeon or a gastroenterologist than consulting a psychiatrist or a neurologist...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27876238/thermography-examination-of-abdominal-area-skin-temperatures-in-individuals-with-and-without-focal-onset-epilepsy
#17
Hollis H King, Charles Thomas Cayce, Jeph Herrin
Early osteopathic theory and practice, and the work of the medical intuitive Edgar Cayce suggested that the abdominal areas of individuals with epilepsy would manifest "cold spots." The etiology for this phenomenon was thought to be abdominal adhesions caused by inflammation and viscero-somatic reflexes caused by adhesions or injury to visceral or musculoskeletal system structures. Indeed, until that advent of electroencephalography in the 1930s, medical practice regarding epilepsy focused on abdominal neural and visceral structures...
January 2017: Explore: the Journal of Science and Healing
https://www.readbyqxmd.com/read/27866088/is-ketogenic-diet-treatment-hepatotoxic-for-children-with-intractable-epilepsy
#18
Nur Arslan, Orkide Guzel, Engin Kose, Unsal Yılmaz, Pınar Kuyum, Betül Aksoy, Tansel Çalık
PURPOSE: Long-term ketogenic diet (KD) treatment has been shown to induce liver steatosis and gallstone formation in some in vivo and clinical studies. The aim of this retrospective study was to evaluate the hepatic side effects of KD in epileptic children. METHOD: A total of 141 patients (mean age: 7.1±4.1years [2-18 years], 45.4% girls), receiving KD at least one year for intractable epilepsy due to different diagnoses (congenital brain defects, GLUT-1 deficiency, West syndrome, tuberous sclerosis, hypoxic brain injury, etc...
December 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27792104/neurocutaneous-melanosis-presenting-as-cavernous-hemangioma-persistent-abdominal-pain
#19
Keman Liao, Shuanglin Que, Yongming Qiu, Shilei Zhang, Zhihua Chen
Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by the presence of multiple congenital melanocytic nevi and the proliferation of melanocytes in the central nervous system. The authors present a 9-year-old Chinese boy whose clinical manifestations are intermittent headache for 2 months and persistent abdominal pain for 10 days. 3D-reconstruction computed tomography angiography image, digital subtraction angiography, and magnetic resonance imaging plus angiography (MRI+MRA) examinations results suggested that cavernoma at left frontal lobe potentially associated with hemorrhage...
March 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27481338/pediatric-lead-poisoning-from-folk-prescription-for-treating-epilepsy
#20
Xiao-Lan Ying, Jian Xu, Morri Markowitz, Chong-Huai Yan
BACKGROUND: A case of lead poisoning resulting from the ingestion of a folk remedy for treating epilepsy is reported. RESULTS: The initial blood lead concentration of this 6-y-old boy was 63.6μg/dl upon admission. He presented with abdominal pain, constipation, and irritability. The patient's liver function tests were significantly increased. Through chelation therapy, the blood lead concentration dropped markedly and clinical symptoms greatly improved. His blood and urine samples were collected for the kinetic analysis of lead elimination...
October 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
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