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episodic weakness syndrome

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https://www.readbyqxmd.com/read/28801329/postcardiac-injury-syndrome-and-stroke-following-permanent-pacemaker-insertion
#1
Caitlin Bialy, Edmund Wee, Nizam Uddin
An 80-year-old woman initially presented with an episode of pleuritic chest pain 10 days after implantation of a dual chamber permanent pacemaker. She returned to hospital a day later with vomiting and fever. She was found to have new atrial fibrillation in addition to right-sided weakness and dysarthria. An infarct in the left anterior inferior cerebellar artery territory was later confirmed on CT. She continued to have recurrent febrile episodes associated with vomiting and dyspnoea. Extensive investigations for infection were negative, and her symptoms were initially attributed to aspiration pneumonia...
August 11, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28671000/brain-derived-neurotrophic-factor-serum-and-plasma-levels-in-the-treatment-of-acute-schizophrenia-with-olanzapine-or-risperidone-6-week-prospective-study
#2
Suzan Kudlek Mikulic, Alma Mihaljevic-Peles, Marina Sagud, Maja Bajs Janovic, Lana Ganoci, Jasmina Grubisin, Martina Kuzman Rojnic, Bjanka Vuksan Cusa, Zoran Bradaš, Nada Božina
Antipsychotics have been the mainstay of the treatment of schizophrenia, and their potential role in neuroprotection could be related to brain-derived neurotrophic factor (BDNF). So far different effects on both serum and plasma levels of BDNF were reported related to the various antipsychotic treatments. Aim of this study was to investigate the influence of olanzapine or risperidone on both plasma and serum levels of BDNF in patients with acute schizophrenia. For 50 participants with acute episode of schizophrenia both plasma and serum BDNF, along with the Positive and Negative Syndrome Scale (PANSS) and the Clinical Global Impression scale, were assessed pretreatment and post treatment - after 6 weeks of either risperidone or olanzapine...
July 2, 2017: Nordic Journal of Psychiatry
https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#3
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
April 29, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28642454/inclusion-body-myositis-a-case-presenting-with-respiratory-failure-and-autopsy-findings-leading-to-the-hypothesis-of-a-paraneoplastic-cause
#4
Christopher Dardis, Ariel Antezana, Kurenai Tanji, Paul J Maccabee
BACKGROUND Sporadic inclusion body myositis (IBM) is the most common acquired myopathy seen in adults aged over 50 years, with a prevalence estimated at between 1 and 70 per million. Weakness of the diaphragm with loss of vital capacity is almost universal in IBM. This is almost always asymptomatic. When respiratory complications occur, they are most often due to aspiration. Respiratory failure due to diaphragmatic weakness is exceptionally rare, particularly as the presenting symptom of the disease. It is not currently considered to be a paraneoplastic syndrome...
June 23, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28483396/early-diagnosis-of-capos-syndrome-before-acute-onset-ataxia-review-of-the-literature-and-a-new-family
#5
Anna Duat Rodriguez, Michaela Prochazkova, Saturnino Santos Santos, Oscar Rubio Cabezas, Veronica Cantarin Extremera, Luis Gonzalez-Gutierrez-Solana
BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward...
June 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28446136/first-mutation-in-the-fshr-cytoplasmic-tail-identified-in-a-non-pregnant-woman-with-spontaneous-ovarian-hyperstimulation-syndrome
#6
Justine Hugon-Rodin, Charlotte Sonigo, Anne Gompel, Catherine Dodé, Michael Grynberg, Nadine Binart, Isabelle Beau
BACKGROUND: Spontaneous ovarian hyperstimulation syndrome (sOHSS) is a rare event occurring mostly during natural pregnancy. Among described etiologies, some activating mutations of FSH receptor (FSHR) have been identified. CASE PRESENTATION: We report hereby the case of a non-pregnant women with three episodes of sOHSS. Hormonal evaluation was normal and no pituitary adenoma was detected. However, genetic analysis identified a novel heterozygous FSHR mutation (c...
April 26, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28272380/complexity-and-diversity-of-gastroesophageal-reflux-disease-phenotypes
#7
Patrizia Zentilin, Elisa Marabotto, Gaia Pellegatta, Claudia Coppo, Manuele Furnari, Edoardo Savarino, Vincenzo Savarino
Gastroesophageal reflux disease (GERD) is defined as a condition which develops when the reflux of gastric contents causes troublesome symptoms, impairs quality of life, or leads to mucosal damage or complications. There are two main phenotypic presentations of GERD, the erosive (ERD) and non-erosive reflux disease (NERD), with the latter one representing up to 70% of GERD spectrum. Moreover, patients with GERD can be clinically subdivided into two distinct syndromes: patients with esophageal and extraesophageal symptoms...
September 2017: Minerva Gastroenterologica e Dietologica
https://www.readbyqxmd.com/read/28228797/femoral-neck-s-fracture-in-fahr-s-syndrome-case-report
#8
Marcello Sallì, Antonio D'Arienzo, Mariella Bonanno, Salvatore Morello, Antonino Sanfilippo, Giulia Letizia Mauro, Michele D'Arienzo
Fahr's syndrome, also known as "Bilateral Striopallidodentate Calcinosis" (BSPDC) primitive, is a rare neurological disease characterized by the presence of idiopathic, bilateral, symmetrical and abnormal deposition of calcium in areas of the brain that control movements including the basal ganglia, dentate nuclei of the cerebellum, nuclei of thalamus and semi-oval center. We describe a case of a 76-year-old male patient underwent reduction and fixation of a subtrochanteric fracture with intramedullary nail...
September 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/28024840/intrafamilial-phenotypic-variability-in-andersen-tawil-syndrome-a-diagnostic-challenge-in-a-potentially-treatable-condition
#9
A Ardissone, V Sansone, L Colleoni, P Bernasconi, I Moroni
Andersen-Tawil syndrome (ATS) is a rare autosomal dominant channelopathy characterized by periodic paralysis, cardiac dysrhythmias, and distinct facial and skeletal characteristics, that may be variably present in the affected members. Mutations in the KCNJ2 and KCNJ5 gene have been associated with this disorder. We describe a family in which several members presented with different ATS phenotypes. The proband, a 4-year-old boy, presented with recurrent episodes of muscle weakness from an early age; two siblings suffered cardiac arrhythmia but had never experienced episodes of paralysis; their mother reported occasional muscle pain after exercise and unspecified cardiac arrhythmias...
March 2017: Neuromuscular Disorders: NMD
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
#10
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...
January 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27861219/rapidly-resolving-weakness-related-to-hypokalemia-in-patients-infected-with-dengue-virus
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
February 2017: Journal of Tropical Pediatrics
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