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https://www.readbyqxmd.com/read/29686177/bilateral-giant-renal-angiomyolipoma-in-a-patient-with-tuberous-sclerosis-complex-a-case-report
#1
Andika Afriansyah, Abdul M Yusuf, Harry Nusaly
Tuberous sclerosis complex (TSC) has several renal manifestations including angiomyolipomas (AML) and renal epithelial neoplasms. A bilateral giant renal AML is extremely rare. We report a case of giant bilateral AML and discuss the diagnosis and treatment of it. The 22-year-old man was admitted due to bilateral flank pain, gross hematuria, and abdominal fullness. He had history of epilepsy, mental retardation, and delayed development during childhood. He had angiofibroma on his face since 10 years ago. Abdominal CT and MRI revealed large lobulated heterogeneous mass with fatty content...
January 2018: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29624180/unilateral-abdominal-clonic-seizures-of-parietal-lobe-origin-eeg-findings
#2
Danah Aljaafari, Fábio A Nascimento, Alon Abraham, Danielle M Andrade, Richard A Wennberg
Unilateral abdominal clonic seizures represent a peculiar and rare manifestation of focal onset epilepsy. We present the case of a 26-year-old man with right-sided abdominal clonic movements associated with seizures arising from the left parietal area. We show the ictal EEG correlates of these events, including source localization of early ictal spikes; findings that have not been demonstrated in previously reported cases. The electro-clinical features in this patient suggested that clinical onset occurred after anterior propagation of ictal activity from a region posterior to the neck and trunk area of the sensory homunculus of the postcentral gyrus...
April 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29604340/a-case-of-pitt-hopkins-syndrome-with-de-novo-mutation-in-tcf4-clinical-features-and-treatment-for-epilepsy
#3
Yedan Liu, Ya Guo, Peipei Liu, Fei Li, Chengqing Yang, Jie Song, Jingfei Hu, Dandan Xin, Zongbo Chen
Pitt-Hopkins syndrome (PTHS), belonging to the group of 18q-syndromes, is a rare genetic disorder caused by mutations in TCF4. PTHS is characterized by distinctive facial appearance, intermittent hyperventilation, intellectual disability and developmental delay. Although patients with PTHS generally have various systemic symptoms, most of themwith a TCF4 mutation manifest the central nervous system (CNS) disorders. We described the first Chinese case with Pitt-Hopkins syndrome based on clinical presentations and genetic findings...
March 28, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29557630/-surgical-treatment-of-macroglossia-in-beckwith-wiedemann-syndrome-case-report
#4
Pablo Roa Rojas, Hernán Arango Fernández, Martha Rebolledo Cobos, Jonathan Harris Ricardo
Beckwith-Wiedemann syndrome is a rare congenital condition, characterized by presenting macroglossia, defects of the abdominal wall, hemihypertrophy, omphalocele, neonatal hypoglycemia, umbilical hernia, hepatomegaly, cardiac abnormalities, among others. Macroglossia occurs in 90% of cases, causing a problem in chewing, swallowing, phonation and breathing, resulting in a closure of the upper airway. The therapeutic option of choice is partial glossectomy. We present a 2-month-old pediatric patient with Beckwith-Wiedemann syndrome and area blockage due to severe macroglossia; in the medical history, congenital heart disease, interatrial communication, persistent ductus arteriosus, symptomatic epilepsy, renal failure, hypoglycemia, tracheotomy and gastrostomy, due to airway collapse and dysphagia...
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29453208/parent-reported-prevalence-and-persistence-of-19-common-child-health-conditions
#5
Tracy Liu, Raghu Lingam, Kate Lycett, Fiona K Mensah, Joshua Muller, Harriet Hiscock, Md Hamidul Huque, Melissa Wake
OBJECTIVE: To estimate prevalence and persistence of 19 common paediatric conditions from infancy to 14-15 years. DESIGN: Population-based prospective cohort study. SETTING: Australia. PARTICIPANTS: Parallel cohorts assessed biennially from 2004 to 2014 from ages 0-1 and 4-5 years to 10-11 and 14-15 years, respectively, in the Longitudinal Study of Australian Children. MAIN OUTCOME MEASURES: 19 health conditions: 17 parent-reported, 2 (overweight/obesity, obesity) directly assessed...
February 16, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29342997/-x-linked-inhibitor-of-apoptosis-deficiency-manifested-as-crohn-s-disease-a-case-report-and-literature-review
#6
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
#7
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...
November 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29181526/cortical-structures-associated-with-human-blood-pressure-control
#8
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...
February 1, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29175662/comorbidities-in-relation-to-fatality-of-first-myocardial-infarction
#9
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...
January 2018: 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
#10
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 jussda 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...
December 8, 2017: Fly
https://www.readbyqxmd.com/read/29071466/cardiovascular-autonomic-effects-of-vagus-nerve-stimulation
#11
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
#12
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...
April 2018: 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
#13
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
#14
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...
November 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28452100/pediatric-psoriasis-should-we-be-concerned-with-comorbidity-cross-sectional-study
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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