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episodic weakness syndrome

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https://www.readbyqxmd.com/read/27894792/pyruvate-dehydrogenase-e1%C3%AE-deficiency-presenting-as-recurrent-acute-proximal-muscle-weakness-of-upper-and-lower-extremities-in-an-8-year-old-boy
#1
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, Ayfer Sakarya-Güneş, Uğur Topçu, Serap Mülayim, Serdar Ceylaner
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare...
November 9, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27861219/rapidly-resolving-weakness-related-to-hypokalemia-in-patients-infected-with-dengue-virus
#2
Pradeep K Maurya, Dinkar Kulshreshtha, Ajai K Singh, Anup K Thacker
OBJECTIVES: Dengue is a mosquito-borne disease caused by arbovirus and well known for its typical fever with thrombocytopenia syndrome. Acute hypokalemic quadriparesis is a rare presentation of dengue with uncertain pathogenesis. We aim to describe the clinical and biochemical characteristics of rapidly resolving weakness related to hypokalemia in patients infected with dengue virus. METHODS: A retrospective review of the records of patients with diagnosis of dengue-associated hypokalemic weakness was performed...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27858890/mild-encephalopathy-with-a-reversible-splenial-lesion-mimicking-transient-ischemic-attack-a-case-report
#3
Kai Dong, Qian Zhang, Jianping Ding, Liankun Ren, Zhen Zhang, Longfei Wu, Wuwei Feng, Haiqing Song
BACKGROUND: Reversible splenial lesion syndrome (RESLES) is a newly recognized syndrome, and a reversible progress associated with transiently reduced diffusion lesion in the splenium of the corpus callosum (SCC) is the typical pathological finding. The routine clinical symptoms include mildly altered states of consciousness, delirium, and seizures. METHODS: We presented a 14-year-old patient with signs suggestive of transient ischemic attack (TIA), including triple episodic weakness on the right upper limb, slurred speech, and bucking, lasting several hours in each time 2 days ago...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27783806/a-novel-homozygous-mutation-in-the-solute-carrier-family-12-member-3-gene-in-a-chinese-family-with-gitelman-syndrome
#4
Y Zhang, F Zhang, D Chen, Q Lü, L Tang, C Yang, M Lei, N Tong
Loss of function of mutated solute carrier family 12 member 3 (SLC12A3) gene is the most frequent etiology for Gitelman syndrome (GS), which is mainly manifested by hypokalemia, hypomagnesemia and hypocalciuria. We report the genetic characteristics of one suspicious Chinese GS pedigree by gene sequencing. Complete sequencing analysis of the SLC12A3 gene revealed that both the proband and his elder sister had a novel homozygous SLC12A3 mutation: c.2099T>C and p.Leu700Pro. Moreover, the SLC12A3 genes of his mother and daughter encoded the same mutated heterozygote...
October 24, 2016: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/27752015/gitelman-s-syndrome-presenting-with-hypocalcemic-tetany-and-hypokalemic-periodic-paralysis
#5
Kunal Gandhi, Dharmendra Prasad, Vinay Malhotra, Dhananjai Agrawal
Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. Hypocalcemic tetany as a presentation of Gitelman's syndrome has rarely been reported in literature. We report a rare case of Gitelman's syndrome presenting with hypocalcemic tetany along with hypokalemic periodic paralysis. A 17-year-old female was admitted to our hospital with a history of perioral numbness and carpal spasms of five days duration with progressive quadriparesis developing over a period of few hours...
September 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27735149/clinical-and-aetiological-spectrum-of-hypokalemic-flaccid-paralysis-in-western-odisha
#6
Biranchi Narayan Mohapatra, Sujit Kumar Lenka, Manoranjan Acharya, Chakradhar Majhi, Gouri Oram, Khetra Mohan Tudu
OBJECTIVE: To study the clinical profile of hypokalemic flaccid paralysis (HKFP) and to evaluate its causes. METHODS: Fifty cases of hypokalemic flaccid paralysis (HKFP) admitted between November 2012 to October 2014 were taken up in the study. Serum potassium level < 3.5 mmol/ltr has been taken as hypokalemia. All cases were studied for spot and/or 24 hour urinary sodium / potassium, serum potassium / calcium / magnesium. Hypokalemic periodic paralysis (HPP) were diagnosed if there was spot/24 hour urine potassium excretion < 20mmol/ltr in presence of hypokalemia and flaccid weakness without other causes...
May 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27605748/metabolic-syndrome-in-childhood-rare-case-of-alstrom-syndrome-with-blindness
#7
Afzal Ahmad, Benedicta D'Souza, Charu Yadav, Ashish Agarwal, Anand Kumar, M Nandini, Vivian D'Souza, A M Poornima, Nutan Kamath
Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks...
October 2016: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/27602170/the-nih-toolbox-cognitive-battery-for-intellectual-disabilities-three-preliminary-studies-and-future-directions
#8
David Hessl, Stephanie M Sansone, Elizabeth Berry-Kravis, Karen Riley, Keith F Widaman, Leonard Abbeduto, Andrea Schneider, Jeanine Coleman, Dena Oaklander, Kelly C Rhodes, Richard C Gershon
BACKGROUND: Recent advances in understanding molecular and synaptic mechanisms of intellectual disabilities (ID) in fragile X syndrome (FXS) and Down syndrome (DS) through animal models have led to targeted controlled trials with pharmacological agents designed to normalize these underlying mechanisms and improve clinical outcomes. However, several human clinical trials have failed to demonstrate efficacy of these targeted treatments to improve surrogate behavioral endpoints. Because the ultimate index of disease modification in these disorders is amelioration of ID, the validation of cognitive measures for tracking treatment response is essential...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27569547/impaired-presynaptic-high-affinity-choline-transporter-causes-a-congenital-myasthenic-syndrome-with-episodic-apnea
#9
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27520610/multiple-cerebral-infarctions-in-a-patient-with-adenomyosis-on-hormone-replacement-therapy-a-case-report
#10
Nanako Hijikata, Yuki Sakamoto, Chikako Nito, Noriko Matsumoto, Arata Abe, Akane Nogami, Takahiro Sato, Hiroyuki Hokama, Seiji Okubo, Kazumi Kimura
A 59-year-old woman was admitted to our hospital because of repeated episodes of bilateral hand weakness. She had a 10-year history of combined estrogen-progestin therapy for menopausal symptoms. Magnetic resonance imaging on admission showed multiple hyperintense lesions in bilateral cerebral and cerebellar cortices on diffusion-weighted imaging. Transesophageal echocardiography showed thrombus formation on the aortic valve and moderate aortic insufficiency. Laboratory test demonstrated elevated CA125 (334...
October 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27516418/acquired-immune-deficiency-syndrome-in-differential-diagnosis-of-hyper-ige-immunoglobulinemia-pediatric-case-report
#11
Manolya Acar, Murat Sutcu, Ozge Umur, Hacer Akturk, Selda Hancerli Torun, Zeynep Tamay, Nuran Salman, Ayper Somer
Acquired immune deficiency syndrome can be encountered with hypereosinophilia and hyperimmunoglobulin E (hyper-IgE) values, though these levels are rarely so high to be compared with hyperimmunoglobulin E syndrome. A 9-year-old boy presented with the complaint of fatigue, weakness, weight loss and generalized pruritic rash lasting for a year. He had frequent respiratory tract infections, wheezing episodes and urticarial skin lesions before that. On admission, he was cachectic and he had generalized lymphadenopathy, hepatosplenomegaly, oral moniliasis and pruritic rash all over his body...
August 10, 2016: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/27397848/rapsyn-congenital-myasthenic-syndrome-worsened-by-fluoxetine
#12
Amy C Visser, Ruple S Laughlin, William J Litchy, Eduardo E Benarroch, Margherita Milone
INTRODUCTION: Fluoxetine is a selective serotonin reuptake inhibitor and long-lived open channel blocker of the acetylcholine receptor often used in the treatment of slow-channel congenital myasthenic syndromes (CMS). METHODS: We report a 42-year woman who had a history of episodic limb weakness that worsened after initiation of fluoxetine for treatment of depression. Genetic testing for CMS revealed a homozygous pathogenic mutation in the rapsyn (RAPSN) gene (p...
July 11, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27325223/esophageal-impedance-monitoring-clinical-pearls-and-pitfalls
#13
REVIEW
Karthik Ravi, David A Katzka
The development of intraluminal esophageal impedance monitoring has improved our ability to detect and measure gastroesophageal reflux without dependence on acid content. This ability to detect previously unrecognized weak or nonacid reflux episodes has had important clinical implications in the diagnosis and management of gastroesophageal reflux disease (GERD). In addition, with the ability to assess bolus transit within the esophageal lumen, impedance monitoring has enhanced the recognition and characterization of esophageal motility disorders in patients with nonobstructive dysphagia...
September 2016: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27313227/cidp-presenting-as-recurrent-severe-back-pain-without-weakness-or-sensory-loss
#14
Dirk Bäumer, David James Grant, Ravi Knight, Camilla Buckley, David Bennett, Simon Rinaldi
A 71-year-old woman presented with severe back pain, limb weakness and cranial nerve dysfunction associated with high cerebrospinal fluid (CSF) protein; we diagnosed Guillain-Barré syndrome and her symptoms completely resolved after intravenous immunoglobulin. Over the next 4 years, she had three further episodes of excruciating back pain accompanied by raised CSF protein, but without weakness, sensory loss, or abnormalities in routine nerve conduction studies. Sensory evoked potentials suggested proximal demyelination and lumbosacral plexus imaging suggested inflammation...
June 16, 2016: Practical Neurology
https://www.readbyqxmd.com/read/27274821/therapeutic-variability-in-adult-minimal-change-disease-and-focal-segmental-glomerulosclerosis
#15
Gema Fernandez-Juarez, Javier Villacorta, Gloria Ruiz-Roso, Nayara Panizo, Isabel Martinez-Marín, Helena Marco, Pilar Arrizabalaga, Montserrat Díaz, Vanessa Perez-Gómez, Marco Vaca, Eva Rodríguez, Carmen Cobelo, Loreto Fernandez, Ana Avila, Manuel Praga, Carlos Quereda, Alberto Ortiz
BACKGROUND: Variability in the management of glomerulonephritis may negatively impact efficacy and safety. However, there are little/no data on actual variability in the treatment of minimal change disease (MCD)/focal segmental glomerulosclerosis (FSGS) in adults. We assessed Spanish practice patterns for the management of adult nephrotic syndrome due to MCD or FSGS. The absence of reasonably good evidence on treatment for a disease often increases the variability substantially. Identification of evidence-practice gaps is the first necessary step in the knowledge-to-action cyclical process...
June 2016: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27192464/managing-missed-lower-extremity-compartment-syndrome-in-the-physiologically-stable-patient-a-systematic-review-and-lessons-from-a-level-i-trauma-center
#16
Graeme E Glass, Robert M T Staruch, Jonathan Simmons, Graham Lawton, Jagdeep Nanchahal, Abhilash Jain, Shehan P Hettiaratchy
BACKGROUND: Decompressing an acute lower extremity compartment syndrome salvages muscle and nerve and preserves limb function. However, reperfusion of ischemic tissue causes a systemic insult that can be life threatening. Hence, the management of missed acute lower limb compartment syndrome remains controversial. The aim of this study was to evaluate the literature and, together with our own experience from a Level 1 trauma center, clarify the management of missed compartment syndrome in the physiologically stable patient...
August 2016: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/27106681/royal-australian-and-new-zealand-college-of-psychiatrists-clinical-practice-guidelines-for-the-management-of-schizophrenia-and-related-disorders
#17
Cherrie Galletly, David Castle, Frances Dark, Verity Humberstone, Assen Jablensky, Eóin Killackey, Jayashri Kulkarni, Patrick McGorry, Olav Nielssen, Nga Tran
OBJECTIVES: This guideline provides recommendations for the clinical management of schizophrenia and related disorders for health professionals working in Australia and New Zealand. It aims to encourage all clinicians to adopt best practice principles. The recommendations represent the consensus of a group of Australian and New Zealand experts in the management of schizophrenia and related disorders. This guideline includes the management of ultra-high risk syndromes, first-episode psychoses and prolonged psychoses, including psychoses associated with substance use...
May 2016: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/27091223/the-genetic-homogeneity-of-capos-syndrome-four-new-patients-with-the-c-2452g-a-p-glu818lys-mutation-in-the-atp1a3-gene
#18
Roderick P P W M Maas, Jolanda H Schieving, Meyke Schouten, Erik-Jan Kamsteeg, Bart P C van de Warrenburg
BACKGROUND: The clinical syndrome of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) was first described 20 years ago, but it was only recently that whole exome sequencing unveiled the causative mutation in the ATP1A3 gene. We present four patients from the seventh and eighth family identified worldwide, provide a critical review of all patients published thus far, and speculate about the pathophysiologic processes underlying the acute neurological manifestations...
June 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27086233/cognitive-impairments-in-first-episode-drug-naive-and-chronic-medicated-schizophrenia-matrics-consensus-cognitive-battery-in-a-chinese-han-population
#19
Jing Qin Wu, Da Chun Chen, Yun Long Tan, Mei Hong Xiu, Fu De Yang, Jair C Soares, Xiang Yang Zhang
Cognitive deficits are a core feature of schizophrenia and we examined the cognitive profile of first-episode and chronic schizophrenia in a Chinese Han population using the MATRICS Consensus Cognitive Battery (MCCB). We recruited 79 first-episode drug-naïve (FEDN) schizophrenia, 132 chronic medicated schizophrenia inpatients and 124 healthy controls. We assessed patient psychopathology using the Positive and Negative Syndrome Scale (PANSS). MCCB total score (p<0.01) and index scores of category fluency, trail making A, digital sequence, Hopkins Verbal Learning Test (HVLT), mazes, and Mayer-Salovey-Caruso Emotional Intelligence Test (MSCEIT) were significantly higher in FEDN than in chronic patients (all p<0...
April 30, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27036377/clinical-characteristics-of-patients-carrying-the-q703k-variant-of-the-nlrp3-gene-a-10-year-multicentric-national-study
#20
Aldo Naselli, Federica Penco, Luca Cantarini, Antonella Insalaco, Mariolina Alessio, Alberto Tommasini, Cristina Maggio, Laura Obici, Romina Gallizi, Marco Cimmino, Sara Signa, Orso Maria Lucherini, Sonia Carta, Francesco Caroli, Alberto Martini, Anna Rubartelli, Isabella Ceccherini, Marco Gattorno
OBJECTIVE: The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C>A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS). METHODS: Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a uniform questionnaire. The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p...
June 2016: Journal of Rheumatology
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