• Journal of Chest Surgery
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• v.49 no.3
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• pp.151-156
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• 2016

Background: Survival of children experiencing cardiac arrest refractory to conventional cardiopulmonary resuscitation (CPR) is very poor. We sought to examine current era outcomes of extracorporeal CPR (ECPR) support for refractory arrest. Methods: Patients who were <18 years and underwent ECPR between November 2013 and January 2016 were including in this study. We retrospectively investigated patient medical records. Results: Twelve children, median age 6.6 months (range, 1 day to 11.7 years), required ECPR. patients' diseases spanned several categories: congenital heart disease (n=5), myocarditis (n=2), respiratory failure (n=2), septic shock (n=1), trauma (n=1), and post-cardiotomy arrest (n=1). Cannulation sites included the neck (n=8), chest (n=3), and neck to chest conversion (n=1). Median duration of extracorporeal membrane oxygenation was five days (range, 0 to 14 days). Extracorporeal membrane oxygenation was successfully discontinued in 10 (83.3%) patients. Nine patients (75%) survived more than seven days after support discontinuation and four patients (33.3%) survived and were discharged. Causes of death included ischemic brain injury (n=4), sepsis (n=3), and gastrointestinal bleeding (n=1). Conclusion: ECPR plays a valuable role in children experiencing refractory cardiac arrest. The weaning rate is acceptable; however, survival is related to other organ dysfunction and the severity of ischemic brain injury. ECPR prior to the emergence of end-organ injury and prevention of neurologic injury might enhance survival.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.17
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• pp.7603-7606
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• 2015

Background: The chemotherapeutic agent oxaliplatin can cause acute and chronic forms of peripheral neuropathy. The aim of this study was to evaluate the incidence of chronic neuropathy and its risk factors in colorectal cancer (CRC) patients treated with FOLFOX or XELOX regimens in the Oncology Ward of Hazrate-Rasoul Hospital in Tehran. Materials and Methods: A total of 130 patients with CRC were entered into our study, aged over 18 years, without history of receiving other neurotoxic agents or other predisposing factors such as diabetes or neurologic diseases and kidney and liver dysfunction. For the FOLFOX regimen, patients received oxaliplatin, 85mg/m2, every 2 weeks for 12 courses and with the XELOX regimen, oxaliplatin was $130mg/m^2$, every 3 weeks for 8 courses. Based on Common Toxicity Criteria (CTC or NCI-CTC v.3), the patients were divided into 5 groups (grades) based on the severity of their symptoms. Results: Fifty-seven patients (43.8%) were male and 73(56.2%) female. Some 19 patients (14.7%) had BMI<20, 97(74.6%) were between 20-25 and 14 (10.8%) ${\geq}25$. In 105 patients (80.7%) neuropathy was found. There was significant correlation between BMI, hypomagnesaemia and especially, severity of anemia in patients with neuropathy compared to those without. Conclusions: Oxaliplatin regimens can induce chronic neuropathy in CRC patients, with anemia, high BMI and hypomagnesaemia as risk factors that can predispose to this kind of neurotoxicity.

• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.1
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• pp.26-36
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• 2018

Mucopolysaccharidosis IIIA is a heritable neurodegenerative disorder resulting from the dysfunction of the lysosomal hydrolase sulphamidase. This leads to the primary accumulation of the complex carbohydrate heparan sulphate in a wide range of tissues and CNS degeneration. Characterization of animal model is the beginning point of the therapeutic clinical trial. Mouse model has a limitation in that it is not a human and does not have all of the disease phenotypes. Therefore, delineate of the phenotypic characteristics of MPS IIIA mouse model prerequisite for the enzyme replace treatment for the diseases. We designed 6-month duration of phenotypic characterization of MPS IIIA mouse biochemically, behaviorally and histologically. We compared height and weight of MPS IIIA mouse with wild type from 4 weeks to 6 months in both male and female. At 6 months, we measured GAG storage in urine kidney, heart, liver, lung and spleen. The brain GAG storage is presented with Alcian blue staining, immunohistochemistry, and electron-microscopy. The neurologic phenotype is evaluated by brain MRI and behavioral study including open field test, fear conditioning, T-maze test and Y-maze test. Especially behavioral tests were done serially at 4month and 6month. This study will show the result of the MPS IIIA mouse model phenotypic characterization. The MPS IIIA mouse provides an excellent model for evaluating pathogenic mechanisms of disease and for testing treatment strategies, including enzyme or cell replacement and gene therapy.

• Journal of Korean Neurosurgical Society
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• v.29 no.12
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• pp.1642-1649
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• 2000

Objectives : Transverse myelitis(TM) is characterized by bilateral motor, sensory, and autonomic dysfunction of the spinal cord in the absence of pre-existing neurologic disease. It is an uncommon but not rare condition. But it remains as poorly understood syndrome not only etiologically but also in terms of its clinical behavior. Neurosurgically, It is often quite difficult to distinguish from other surgical intramedullary lesions. We present our clinical experiences of TM in order to assess its clinical behavior and to define the radiological characteristics that can distinguish TM from other intramedullary lesions. Methods : From June 1991 to May 1997, twenty-nine patients with transverse myelitis were admitted to our department. All cases revealed acute or subacute syndrome of non-compressive myelopathy and intramedullary lesions in the MRI. We analyze the radiological data and medical records retrospectively. Results : Patients ranged in age from 16 to 66 years, with 22 males and 7 females. Mean follow-up period was 53 months. For the offending levels, cervical was 5, thoracic 21, and lumbar 3 in number. The patients who presented the return of symptoms after a diminution or abatement of initial symptoms were 7(24%). In the MRI, TM showed typical characteristics of high signal intensity lesions in the center of spinal cord in T2 weighted images and low- to iso-signal intensity in T1 weighted images. A focal nodular enhancement pattern was observed in 58.6%(17/29) of the patients. MR follow-up studies were done in the 21 patients and radiological improvement were verified. Biopsies were done in 3 patients. Normal to good outcome was achieved in 62% of the patients. Conclusion : Transverse myelitis has characteristic radiological findings that can be distinguished from other intramedullary lesions. In our series, it is associated with significant recurrence rates thus, should not be considered a selflimiting disease with good prognosis.

• Journal of Korean Neurosurgical Society
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• v.46 no.2
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• pp.99-102
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• 2009

Objective: Cardiac dysfunction after aneurysmal subarachnoid hemorrhage (SAH) is associated with elevation of serum cardiac troponin I (cTnl) levels. Elevation of cTnl predicts cardiopulmonary and neurological complications, and poor outcome. Methods: We retrospectively reviewed the medical and radiologic records of 114 (male: 30, female: 84) patients who developed aneurysmal SAH between January 2006 and June 2007 and had no history of previous cardiac problems. We evaluated their electrocardiography and cTnl level, which had been measured at admission. A cTnl level above 0.5 $\mu$g/L was defined as an indicator of cardiac injury following SAH. We examined various clinical factors for their association with cTnl elevation and analyzed data using chi-square test, t-test and logistic regression test with SPSS version 12.0. The results were considered significant at p< 0.05. Results: The following parameters shows a correlation with cTnl elevation: higher Hunt-Hess (H-H) grade (p = 0.000), poor Glasgow Outcome Scale (GOS) score (p = 0.000), profound pulmonary complication (p = 0.043), higher heart rate during initial three days following SAH (p = 0.029), ruptured aneurysm on communicating segment of internal carotid artery (p = 0.025), incidence of vasospasm (p = 0.421), and duration of hyperdynamic therapy for vasospasm (p = 0.292). A significant determinants for outcome were cTnl elevation (p = 0.046) and H-H grade (p = 0.000) in a multivariate study. Conclusion: A cTnl is a good indicator for cardiopulmonary and neurologic complications and outcome following SAH. Consideration of variable clinical factors that related with cTnl elevation may be useful tactics for treatment of SAH and concomitant complications.

• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1140-1146
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• 2008

Nocturnal enuresis is a heterogeneous disorder with various underlying pathophysiological mechanisms and causes a mismatch between the nocturnal bladder capacity and the amount of urine produced during sleep at night. It is associated with a simultaneous failure of conscious arousal in response to the sensation of bladder fullness. Generally, a complete history and physical examination, with a specific focus on the genitourinary, gastrointestinal, and neurologic systems, is sufficient to evaluate a patient with enuresis. The therapeutic focus is directed toward a differential approach based on the underlying mechanism and toward combination therapies such as alarm devices and desmopressin as well as anticholinergic agents and desmopressin. Children with increased nocturnal urine production usually have a good response to desmopressin therapy. Patients with a small bladder generally show a poor response to desmopressin treatment, but they would benefit more from combination therapy with enuretic alarm, urotherapy, and antimuscarinic agents in addition to desmopressin. Different types of bladder dysfunction, which result in a small nocturnal bladder capacity, probably contribute significantly to the pathogenesis of nocturnal enuresis, particularly in those with treatment failure and refractory symptoms. Because different clinical subgroups may show different responses to treatment, it is necessary to distinguish these subgroups before a decision on the specific treatment protocol can be made.

• Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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• v.22 no.2
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• pp.126-132
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• 2011

Background and Objectives : Vocal fold paresis is a clinical condition and considered as a continuum of neurologic dysfunction encompassing partial denervation and variable degrees and patterns of reinnervation. Its incidence, clinical presentation, significance are incompletely understood and still debated. This study describes the clinical, electromyographic findings in patients who presented with complaints of dysphonia and whose laryngoscopic finding revealed vocal fold paresis. Materials and Method : 47 patients (male : 25, female : 22) who referred to Ewha Womans University Medical Center Voice clinic for evaluation of vocal complaints were enrolled in this study. All patients had undergone a through history and physical examination including strobovideoscopic and laryngoscopic examination. Patients with in the history and/or laryngoscopic examination suggestive of vocal fold paresis were evaluated by laryngeal electromyography (LEMG). Results : Of these patients, 23 (48.9%) were found to have evidence of neuropathy on LEMG. There was no significant difference in voice symptoms and laryngoscopic findings between two groups of patients with evidence of neuropathy and who show normal findings on LEMG. Conclusion : LEMG can clinically help to guide the evaluation and management of vocal fold paresis. Due to some limitations of LEMG, laryngoscopic findings and clinical correlations should also be considered when diagnosing the vocal fold paresis.

• Journal of The Korean Society of Integrative Medicine
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• v.9 no.2
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• pp.105-108
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• 2021

Background : Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare, autosomal recessive metabolic disorder which is caused by genetic mutations that disrupt the urea cycle. It is characterized by variable clinical presentation and the age of onset. Patients may present with gait disturbance and progressive paraplegia and muscle tightness in the lower extremities. The use of botulinum toxin in metabolic disease has rarely been discussed. We describe a case of a 14-year-old-boy with HHH syndrome, who presented with a several - month history of gait disturbance and lower extremity weakness. Case presentation : A 14-year old male had a history of recurrent upper respiratory tract infections, occasional vomiting, loss of appetite, and general weakness, all of which started since he was 10 months old. He was diagnosed with HHH syndrome at one year of age. At the age of 14, he was referred for the assessment and treatment of his gait disturbance and aggravated weakness of the lower extremities. Brain MRI, electrodiagnostic study and blood test were performed to exclude any lesions related to neurologic dysfunction. Botulinum toxin type A were injected into muscles of adductor longus, adductor magnus, lateral and medial hamstring, and lateral and medial gastrocnemius muscle heads under needle electromyography guidance to reduce lower limb spasticity. Intensive physical therapy including gait training and stretching exercise of adductor and calf muscles were also provided. After intensive physical therapy and botulinum toxin injection to reduce lower limb spasticity, he was able to ambulate for 20 meters independently without any walking aids. There were no adverse events after the injection. Conclusion : Botulinum toxin injection is a safe and effective therapy for patients with HHH syndrome who suffer from gait disturbance.

• Pediatric Infection and Vaccine
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• v.30 no.2
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• pp.91-96
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• 2023

Infection with enterovirus (EV) 71 is usually associated with hand-foot-and-mouth disease and herpangina. The most frequent neurologic complication is brainstem encephalitis. A 30-month-old boy visited the pediatric emergency department with fever, lethargy, and abnormal eye contact. His mental status was slightly drowsy. On hospitalization day 2, the patient experienced respiratory arrest with apnea. Brain magnetic resonance imaging revealed bilateral symmetric T2-high signal lesions without enhancement in the posterior aspect of the brainstem and left medial temporal lobe. Electroencephalography was indicative of diffuse cerebral dysfunction with diffuse high amplitude and irregular delta activities. He underwent a gene study and was diagnosed with myoclonic epilepsy with ragged red fibers syndrome. We report a case of EV 71 brainstem encephalitis by polymerase chain reaction for nasopharyngeal aspirates and feces with rapid progression within one day of fever without the manifestation of throat and skin lesions because of his underlying mitochondrial disease.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.