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Anne S Bie, Paula Fernandez-Guerra, Rune I D Birkler, Shahar Nisemblat, Dita Pelnena, Xinping Lu, Joshua L Deignan, Hane Lee, Naghmeh Dorrani, Thomas J Corydon, Johan Palmfeldt, Liga Bivina, Abdussalam Azem, Kristin Herman, Peter Bross
We here report molecular investigations of a missense mutation in the HSPE1 gene encoding the HSP10 subunit of the HSP60/ HSP10 chaperonin complex that assists protein folding in the mitochondrial matrix. The mutation was identified in an infant who came to clinical attention due to infantile spasms at 3 months of age. Clinical exome sequencing revealed heterozygosity for a HSPE1 NM_002157.2:c.217C>T de novo mutation causing replacement of leucine with phenylalanine at position 73 of the HSP10 protein. This variation has never been observed in public exome sequencing databases or the literature...
2016: Frontiers in Molecular Biosciences
Ayaka Sasaki, Shinichiro Miyazaki, Tomokatsu Hori
Facial nerve schwannoma is a rare intracranial tumor. Treatment for this benign tumor has been controversial. Here, we report a case of extracranial facial nerve schwannoma treated successfully by hypo-fractionated CyberKnife (Accuray, Sunnyvale, CA) radiosurgery and discuss the efficacy of this treatment. A 34-year-old female noticed a swelling in her right mastoid process. The lesion enlarged over a seven-month period, and she experienced facial spasm on the right side. She was diagnosed with a facial schwannoma via a magnetic resonance imaging (MRI) scan of the head and neck and was told to wait until the facial nerve palsy subsides...
September 21, 2016: Curēus
Marilucia Santos Ludovico, Luciano Moura Martins, Juares Ednaldo Romero Bianco, Célia Guadalupe Tardelli de Jesus Andrade, Rosabel Falcon, Paulo Pinto Joazeiro, Maria Silvia Viccari Gatti, Tomomasa Yano
Plesiomonas shigelloides isolated from water in Brazil was previously described as a hemorrhagic heat-labile cytotoxic-enterotoxin producer. We purified this toxin from culture supernatants using ion metallic affinity chromatography (IMAC) followed by molecular exclusion chromatography. The pure toxin presented molecular mass of 50kDa and isoelectric point (pI) around 6.9 by 2D electrophoresis. When injected intravenously, the purified cytotoxic-enterotoxin induced also severe spasms followed by sudden death of mice...
October 19, 2016: Brazilian Journal of Infectious Diseases
Stephanie Fehr, Kingsley Wong, Richard Chin, Simon Williams, Nick de Klerk, David Forbes, Rahul Krishnaraj, John Christodoulou, Jenny Downs, Helen Leonard
OBJECTIVE: To investigate seizure outcomes and their relationships to genotype and functional abilities in individuals with the cyclin-dependent kinase-like-5 (CDKL5) disorder. METHODS: Using the International CDKL5 Disorder Database, we identified 172 cases with a pathogenic CDKL5 mutation. We categorized individual mutations into 4 groups based on predicted structural and functional consequences. Negative binomial regression was used to model the linear association between current seizure rate and mutation group, current level of assistance required to walk 10 steps, and the highest level of expressive communication used to convey refusal or request...
October 21, 2016: Neurology
Amara Krag, Gregory L Holmes
Infantile spasms, one of the catastrophic epilepsies, can be a diagnostic challenge since the clinical manifestations may be subtle and may mimic benign conditions. Because of the rarity of the condition, primary care physicians and pediatricians may never see a case of infantile spasms during their career and may be unfamiliar with the seizure semiology. This is a serious issue since there is evidence that early diagnosis and treatment may improve outcome. Patients and families are increasingly using the internet more than their physician as a source of medical information about epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
Ozan Erol, Erdinç Aydın
BACKGROUND: Hemifacial spasm is a sudden, involuntary and synchronous spasm of the facial muscles. The most frequent cause of this condition is compression of the facial nerves due to vascular pathologies. The most commonly used method of treatment is Botulinum toxin injection. However, the gold standard treatment is surgical treatment. CASE REPORT: A 64-year-old male patient with hemifacial spasms, which had occurred due to a rare parotid mass that had been surgically treated, is presented in this case...
September 2016: Balkan Medical Journal
Curtis A Fedorchuk, Matthew McCoy, Douglas F Lightstone, David A Bak, Jacque Moser, Brett Kubricht, John Packer, Dustin Walton, Jose Binongo
OBJECTIVE: This study investigates the impact of isometric contraction of anterior cervical muscles on cervical lordosis. METHODS: 29 volunteers were randomly assigned to an anterior head translation (n=15) or anterior head flexion (n=14) group. Resting neutral lateral cervical x-rays were compared to x-rays of sustained isometric contraction of the anterior cervical muscles producing anterior head translation or anterior head flexion. RESULTS: Paired sample t-tests indicate no significant difference between pre and post anterior head translation or anterior head flexion...
September 2016: Journal of Radiology Case Reports
Paola Perozzo, Adriana Salatino, Paolo Cerrato, Raffaella Ricci
Mood, anxiety, and other psychological symptoms are common in dystonic patients suffering from blepharospasm (BSP) and spasmodic torticollis (ST). Since sexual well-being is an important aspect of mental health, here, we investigated whether these patients may also experience a worsening of their sexual life. In particular, quality of sexual life was evaluated in patients suffering from BSP (N = 30), ST (N = 30), and in a control group of patient with Hemifacial spasm (HFS; N = 30), undergoing botulinum toxin type A therapy...
2016: Frontiers in Psychology
Claudia Kathe, Thomas Haynes Hutson, Stephen Brendan McMahon, Lawrence David Falcon Moon
Brain and spinal injury reduce mobility and often impair sensorimotor processing in the spinal cord leading to spasticity. Here, we establish that complete transection of corticospinal pathways in the pyramids impairs locomotion and leads to increased spasms and excessive mono- and polysynaptic low threshold spinal reflexes in rats. Treatment of affected forelimb muscles with an adeno-associated viral vector (AAV) encoding human Neurotrophin-3 at a clinically-feasible time-point after injury reduced spasticity...
October 19, 2016: ELife
Thashi Chang, Bethan Lang, Angela Vincent
BACKGROUND: Stiff person syndrome is a highly disabling, progressive autoimmune disorder of the central nervous system characterized by muscle rigidity and spasms. Stiff person syndrome is rare, but is believed to be under diagnosed with only 14 cases been reported among a 1.7 billion population in South Asia. We report the first authenticated case from Sri Lanka. CASE PRESENTATION: A 55-year-old Sri Lankan female presented with difficulty in walking and recurrent falls due to progressive muscular rigidity in her lower limbs and trunk with superimposed muscle spasms that occurred in response to unexpected noise, startle or emotional upset...
October 18, 2016: BMC Research Notes
Eliot J Martin, Matthew L Carlson, Eric J Moore, Ryan S Jackson
OBJECTIVE: To report hemifacial spasm (HFS) as a rare presenting symptom of a benign parotid neoplasm involving the stylomastoid foramen. METHODS: Case report with literature review. RESULTS: An 18-year-old woman presented with a 1-year history of a progressively enlarging right infra-auricular mass with new onset ipsilateral severe HFS. Clinical vetting unveiled a palpable 2 cm, firm, minimally mobile mass medial to the angle of the mandible...
October 12, 2016: Otology & Neurotology
Tessa M LeWitt
A wide range of etiologies can cause hemifacial spasm (HFS), including infection. In this case report, a 44-year-old woman developed HFS and was explored surgically 7 years later. No abnormalities were found. Afterward, treatment of a surgical wound infection with an oral cephalosporin resulted in a temporary HFS remission that had never occurred previously. This antibiotic experience prompted further workup for an underlying infection, which ultimately led to diagnosis of Lyme disease. Presentation of HFS due to Lyme disease has not been reported...
October 14, 2016: Clinical Neuropharmacology
Pedro A Villablanca, David F Briceno, Anand D Jagannath, Martin Cohen, Robert Pyo
Coronary vasospasm is uncommon during pregnancy and the postpartum period. We present a very rare case of an acute coronary vasospasm in a 36-year-old woman who was two weeks postpartum. The coronary arteriograms showed a coronary vasospasm in the distal left anterior descending and circumflex coronary arteries. Electrocardiogram (ECG) presentation was atypical, with T-wave inversions in leads I, aVL, and V2 to V6. To our knowledge, this is the first case with a well-documented coronary artery vasospasm in a postpartum woman without the classic ST elevation on ECG...
October 18, 2016: Acute Cardiac Care
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
Harvey J Woehlck, Brent T Boettcher, Kathryn K Lauer, David C Cronin, Johnny C Hong, Michael A Zimmerman, Joohyun Kim, Motaz Selim
Systemic vasoplegia is common in patients undergoing liver transplantation. In this report, we present a case in which treatment with conventional vasopressors caused peripheral arterial spasm, rendering arterial blood pressure monitoring impossible. Administration of methylene blue resolved the vasospasm; however, concern for toxic dose requirements limited its use. Hydroxocobalamin administration resolved the vasospasm and increased blood pressure without the potential adverse effects seen with methylene blue...
October 5, 2016: A & A Case Reports
Timo-Benjamin Baumeister, Ingo Wickenbrock, Christian A Perings
Methylphenidate (Ritalin(®)) is an increasingly used medication in the treatment of attention-deficit hyperactivity disorder (ADHD). Cardiovascular adverse effects like vasospasm or myocardial infarction are described as very rare adverse effects. We present the case of a 21-year-old man diagnosed with ADHD who recently started therapy with Ritalin(®) Adult 20 mg for at least 3 days. Afterwards he presented with chest pain, elevated troponin and creatine kinase, and posterolateral ST elevations. A myocarditis was initially supposed...
December 2016: Drug Saf Case Rep
Jan Pieter Marchal, Heleen Maurice-Stam, Bregje A Houtzager, Susanne L Rutgers van Rozenburg-Marres, Kim J Oostrom, Martha A Grootenhuis, A S Paul van Trotsenburg
BACKGROUND: We analysed developmental outcomes from a clinical trial early in life and its follow-up at 10.7 years in 123 children with Down syndrome. AIMS: To determine 1) strengths and weaknesses in adaptive functioning and motor skills at 10.7 years, and 2) prognostic value of early-life characteristics (early developmental outcomes, parental and child characteristics, and comorbidity) for later intelligence, adaptive functioning and motor skills. METHODS AND PROCEDURES: We used standardized assessments of mental and motor development at ages 6, 12 and 24 months, and of intelligence, adaptive functioning and motor skills at 10...
October 13, 2016: Research in Developmental Disabilities
Pinar Akpinar, Arzu Atici, Feyza U Ozkan, Ilknur Aktas, Duygu G Kulcu, Kubra Neslihan Kurt
OBJECTIVE: To assess the reliability of the Spinal Cord Assessment Tool for Spastic Reflexes (SCATS). DESIGN: Observational reliability study of the SCATS . SETTING: Inpatient rehabilitation unit at an education and research hospital. PARTICIPANTS: This study included 47 subjects between the ages of 18 and 88 years with spinal cord injury, American Spinal Injury Association (ASIA) impairment scale grades from A to D with spasticity, and at least 6 months post injury...
October 12, 2016: Archives of Physical Medicine and Rehabilitation
Tomokazu Kimizu, Yukitoshi Takahashi, Taikan Oboshi, Asako Horino, Takayoshi Koike, Shinsaku Yoshitomi, Tatsuo Mori, Tokito Yamaguchi, Hiroko Ikeda, Nobuhiko Okamoto, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato, Naomichi Matsumoto, Katsumi Imai
INTRODUCTION: Mutations of SLC35A2 that encodes Golgi-localized Uridine diphosphate (UDP)-galactose transporter at Xp11.23 lead to congenital disorders of glycosylation (CDG). Although patients with CDG generally have diverse systemic symptoms, patients with a SLC35A2 mutation manifest predominantly disorders of the central nervous system (CNS). CASE REPORT: A female infant aged 12months was referred to our center because of intractable seizures. The patient was born with birth weight of 3228g after 40weeks of unremarkable gestation...
October 12, 2016: Brain & Development
Sorin J Brener
No abstract text is available yet for this article.
October 8, 2016: Atherosclerosis
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