Amyloid spell – A close mimic of transient ischemic attack!

Transient focal neurological episodes, also called amyloid spells occur as recurrent, transient episodes of spreading paresthesia seen in 14% of cerebral amyloid angiopathy (CAA) patients. An 81-year-old gentleman with coronary artery disease and a left ventricular clot was on anticoagulant treatment. He presented with three episodes of tingling in the left fingers spreading to the left arm and left leg, each lasting for 10 min. Magnetic resonance imaging of the brain with susceptibility imaging showed convexity hemorrhage, and curvilinear blooming in sulcal spaces of the right cerebral convexity and left precuneus. Warfarin was stopped. He was treated with clobazam, aspirin, and atorvastatin. He improved, so was discharged after 2 days. Amyloid spells can be confused with transient ischemic attack (TIA) or its mimics and the treatment given for TIA can lead to intracranial hemorrhage in CAA patients. Radiological features aid in the diagnosis of CAA and antiplatelets need to be administered cautiously in patients with suspected TIA.

Infant And Young Child Feeding Practices and Infections Pattern in Children Up To 24 Months Age Attending Outdoor Patient Department of a Tertiary Care Hospital of South Gujarat

Background: Optimal infant and young child feeding practices (IYCF) are effective public health intervention to enhance child survival, nutrition and development. There is also documented evidence regarding the pro-tective effect of optimal IYCF practices against diarrhoea and ARTI. The objective is to assess knowledge and practices regarding IYCF among study participants & to explore the association of feeding practices of mothers with the morbidities (infections) in their children. Methodology: The present study was a hospital based cross-sectional study, carried out during September 2019 to March 2021. A total of 380 mothers of children less than two years attending OPD of Institute of child health, Nirmal hospital private limited, a tertiary care multi-specialty hospital was interviewed using pre-designed and pretested questionnaire. Results: Feeding practices during early days of life to be reasonably good among study participants with al-most 2/3rd of the study participants practicing them. Mean number of morbidity episodes requiring consulta-tion were significantly lower in the children whose mothers practiced optimal IYCF practices. Conclusion: Poor feeding practices in children had significant association with morbidity episodes of diar-rhoea and ARTI in children.

Pseudotumor hemofílico secundario a fractura expuesta de tibia / Hemophilic pseudotumor secondary to an open fracture of the tibia

Introducción: El pseudotumor hemofílico consiste en un hematoma encapsulado de crecimiento progresivo debido a repetidos episodios de hemorragia en pacientes con hemofilia. Objetivo: Evaluar la recuperación de un paciente con una lesión compleja y poco frecuente que le causaba limitaciones a su vida cotidiana. Presentación de caso: Paciente masculino de 36 años de edad, con antecedentes patológicos personales de hemofilia A grave, que presentaba aumento de volumen en la pierna derecha posterior a un trauma sufrido a ese nivel. Llevó tratamiento conservador por más de 10 años, período en que la lesión continúo aumentando de tamaño, el cual progresó considerablemente en los últimos 3 años, por lo que requirió tratamiento quirúrgico. Conclusiones: La complejidad del paciente no solo radica en la afección en la región medial de la tibia, sino por la enfermedad de base, demuestra que se requiere un diagnóstico lo más certero y precoz posible para adoptar una conducta adecuada y rápida(AU)

Introduction: Hemophilic pseudotumor consists of an encapsulated hematoma with progressive growth, due to repeated bleeding episodes in patients with hemophilia. Objective: To evaluate the recovery of a patient with a complex and rare injury that already caused limitations to his daily life. Case presentation: 36-year-old male patient with a personal pathological history of severe hemophilia A, who presented an increase in volume in the right leg after a trauma that he suffered at that level. As time went by, he began to present an increase in volume in the distal middle region of his right leg for more than 10 years, which progressed considerably in the last 3 years, requiring surgical treatment. Conclusions: The complexity of the patient is not only given by the condition in the medial region of the tibia, but by the underlying disease shows that a diagnosis as accurate and early as possible is required, to adopt an adequate and rapid behavior(AU)

The clinical features of mitochondrial encephalomyopathy with lactic academia and stroke 1ike episodes in children / 中国小儿急救医学

Objective:To analyze the clinical manifestations, blood biochemistry indexes, imaging and genetic characteristics of mitochondrial encephalomyopathy with lactic academia and stroke 1ike episodes (MELAS) in children, so as to provide the basis for the diagnosis of MELAS and reduce the misdiagnosis rate.Methods:The clinical data of children with MELAS admitted to the Second Affiliated Hospital of Wenzhou Medical University from January 2000 to December 2020 were retrospectively analyzed, and healthy children undergoing physical examination during the same period were selected as control group.The clinical data were compared between two groups, and the clinical manifestations, blood biochemistry indexes, electrocardiogram, cardiac ultrasound, cranial imaging and genetic testing were analyzed.Results:A total of eight children in MELAS group were collected, including three males and five females.The average age of onset was(9.90±3.89)years.There were eight children in control group, including four boys and four girls, with an average age of(7.92±2.51)years.Among the eight children with MELAS, there were six cases of vomiting, eight cases of epilepsy, five cases of headache, two cases of growth retardation, one case of mental retardation, one case of diabetes, and one case of peripheral neuropathy.The levels of lactate, lactate dehydrogenase, creatine kinase, and pyruvate in MELAS group were higher than those in control group, and the differences were statistically significant( P<0.05). Brain MRI abnormalities were observed in all patients, among which five patients had lesions located in the cerebral cortex, mostly in the parietal occipital temporal lobe, one patient had lesions located in the basal ganglia, and two patients had lesions in both cortex and basal ganglia.MRS of five cases showed inverted lactate peak with bimodal change.The electroencephalogram of eight cases showed slow wave of background activity, and epileptic discharge was observed in two cases.Seven children with MELAS had mtDNA locus mutation M. 3243A>G, and one patient had M. 8344A>G mutation.Eight cases were treated with symptomatic and supportive therapy, and were followed up for 3-5 years, most of them were hospitalized repeatedly because of similar chief complaints.The course of disease was prolonged and repeated, and the symptoms were relieved and discharged after about one week of hospitalization. Conclusion:The clinical manifestations of MELAS in children are diverse, and early diagnosis is difficult.Blood biochemistry, imaging characteristics and genetic testing results are helpful for early diagnosis, early treatment and delaying the progression of the disease.

Clinical controlled study of high-frequency repeated transcranial magnetic stimulation combined with sertraline in the treatment of depression in children and adolescents / 四川精神卫生

ObjectiveTo evaluate the efficacy and safety of high frequency repetitive transcranial magnetic stimulation （rTMS） combined with sertraline in the treatment of depression in children and adolescents. MethodsFrom November 2019 to May 2020， a sample of 107 children and adolescents who met the diagnostic criteria of International Classification of Diseases， tenth edition （ICD-10 ） for depressive episode were selected from the Third People's Hospital of Tianshui. According to the method of random number table， individuals were classified into study group（n=53） and control group（n=54）. All subjects received sertraline treatment， based on this， study group received high-frequency rTMS （10 Hz）. Treatment in both groups lasted for 4 weeks. Efficacy was assessed using Hamilton Depression Scale-24 item （HAMD-24） at the baseline， and the end of the 1st， 2nd， 3rd and 4th weeks of treatment， and adverse reactions were evaluated via Treatment Emergent Symptom Scale （TESS） at the 1st， 2nd， 3rd and 4th weekend of treatment. ResultsThere were 50 participants in both the study group and control group. The HAMD-24 score of study group were lower than those of control group at the end of 1st， 2nd， 3rd and 4th weeks of treatment （t=2.556~3.434， P<0.05）. The overall efficacy rate at the 4th week of treatment was 90.00% in study group， which was significantly higher than 78.00% in control group （χ2=2.680， P<0.05）. The adverse reaction rate yielded no statistical difference between study group and control group （30.00% vs. 26.00%， χ2=0.200， P>0.05）. ConclusionCompared with sertraline treatment alone， its combination with high-frequency rTMS achieves better outcomes in the treatment of depression in children and adolescents， without compromising safety.

Caracterización de la hipotonía-hiporrespuesta post vacuna pentavalente y tamizaje del neurodesarrollo en niños bajo 6 años de edad, 2013-2018, Uruguay / Characterization of hypotonia-hyporesponsiveness after pentavalent vaccine and neurodevelopmental screening in children under 6 years of age, 2013-2018, Uruguay

INTRODUCCIÓN: La hipotonía-hiporrespuesta (HHR) es uno de los efectos adversos supuestamente atribuibles a la vacunación e inmunización de tipo neurológico más notificados. El impacto a largo plazo a nivel del neurodesarrollo no es completamente conocida. OBJETIVO: Caracterizar los eventos de HHR post vacuna pentavalente notificados entre 2014 y 2018 al Ministerio de Salud Pública (MSP) de Uruguay. Realizar el tamizaje del neurodesarrollo de los que al momento de la evaluación tenían menos de 6 años de edad. METODOLOGÍA: Estudio descriptivo de las notificaciones al Sistema Nacional de Farmacovigilancia del MSP. Se realizó el tamizaje del neurodesarrollo con la Guía Nacional para la Vigilancia del Desarrollo. RESULTADOS: 30 casos, la mayoría de breve duración, en las primeras horas post primera dosis y con recuperación espontánea. Requirieron hospitalización 29. Se realizó el tamizaje del neurodesarrollo en 16. La media de tiempo entre el evento y esta evaluación fue 2 años y 2 meses. Fue normal la prueba de tamizaje en 15. En uno se detectó un retraso del lenguaje. CONCLUSIONES: Los episodios de HHR se presentaron con características similares a las descritas en la bibliografía. A pesar de las limitaciones del estudio, no se encontraron retrasos ni desvíos del desarrollo en los niños evaluados.

BACKGROUND: Hypotonic-hyporesponsive episodes (HHE) is one frequently reported neurologic adverse effect supposedly attributable to vaccination and immunization. Its long-term impact on neurodevelopment is not completely known. AIM: To characterize the post-pentavalent vaccine HHE events reported to the Uruguayan Ministry of Health (M of H) between 2014 and 2018. To perform neurodevelopment screening of those who were under 6 years of age at the time of evaluation. METHODS: Descriptive study of the reports made to the National Farmacosurveillance System of the M of H. Neurodevelopment screening was performed using the National Guidelines for Developmental Surveillance. RESULTS: 30 cases were studied. Most cases occurred after the first doses, were of short duration and during the first hours after vaccination, with spontaneous recovery. Median time between the event and this evaluation was 2 years and 2 months. Screening tests were normal in 15. Delay in the language area was detected in one case. CONCLUSIONS: HHE events had similar characteristics to those described in the literature, with no severe short-term complications. Despite the limitations of the present study, no delays nor deviations were found in the development of the children who were evaluated.

Trastorno paroxístico no epiléptico en paciente referido por sospecha de epilepsia / Paroxysmal non-epileptic events in patients referred for suspicion of epilepsy

Los Trastornos Paroxísticos No Epilépticos (TPNE), son diagnóstico diferencial de crisis epilépticas. En Chile no existen reportes de frecuencia. OBJETIVO: Determinar frecuencia de TPNE en pacientes derivados por sospecha de epilepsia a Unidad de Electroencefalografía, Hospital Roberto del Río. METODOLOGÍA: Estudio observacional, transversal. Se revisó registros clínicos de pacientes derivados por sospecha de epilepsia(2012- 2014). Inclusión: paciente con TPNE, >1 mes, sin epilepsia previa. Caracterización: sexo, edad, tipo/subtipo TPNE, comorbilidades, electroencefalograma (EEG), uso fármaco antiepiléptico (FAE). Aprobado por comité de ética. RESULTADOS: Derivados 913 pacientes por sospecha de epilepsia. 36% TPNE (2,3% con epilepsia concomitante), 22% epilepsia aislada. TPNE más frecuente: escolares (31%), adolescentes (29%), femenino (52%). 30,1% hipoxia cerebral (síncope, Espasmo Sollozo); 22,4% trastornos del comportamiento (Descontrol Episódico, Crisis Psicógena no Epiléptica). 32,8% con comorbilidades no epilépticas (Trastornos psiquiátricos/neurodesarrollo). 4,3 % recibieron FAE. CONCLUSIONES: La frecuencia de TPNE en niños/adolescentes supera a la de epilepsia. Es fundamental evaluación multidisciplinaria.

Paroxysmal non-epileptic events (PNE) are differential diagnosis of epileptic seizures. In Chile, there are no reports on its frequency. OBJECTIVE: To determine the frequency of PNE in patients referred for suspicion of epilepsy to the Electroencephalography Unit of Roberto del Río Hospital. METHODOLOGY: Observational, cross-sectional study. Clinical records of patients referred for suspicion of epilepsy (2012-2014) were reviewed. Inclusion: Patient with PNE, >1 month, without previous epilepsy. Characterization: gender, age, PNE type/subtype, comorbidities, electroencephalogram, use of antiepileptic drug (AED). Approved by the ethics committee. RESULTS: 913 patients were referred for suspected epilepsy: 36% PNE (2,3% with concomitant epilepsy), 22% isolated epilepsy. PNE were more frequent in children (31%) adolescents (29%), and in females (52%). 30.1% Cerebral hypoxia (syncope, breathholding-spells); 22,4% Behavioral disorders (Episodic loss of control, Non-Epileptic Psychogenic Seizures). 32.8% non-epileptic comorbidities (Psychiatric/ neurodevelopmental disorders). 4.3% received AEDs. CONCLUSIONS: The frequency of PNE in children and adolescents exceeds that of epilepsy. A multidisciplinary medical evaluation is of the outmost importance. Keywords: Paroxysmal Non-Epileptic Disorder, Non-epileptic episodes, Epilepsy.

Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation / 北京大学学报(医学版)

OBJECTIVE@#Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation.@*METHODS@#The clinical and imaging data of the patient were collected and an open muscle biopsy was carried out. We further employed molecular genetic analyses to detect mtDNA mutation in the proband and his mother. And then a clinical and neuroimaging follow-up was performed.@*RESULTS@#This patient was a 25-year-old male, who developed exercise intolerance since the age of 6. At age 10, he suffered from acute episodes of hemianopia, and cranial magnetic resonance imaging (MRI) showed occipital stroke-like lesions and cranial magnetic resonance spectroscopy (MRS) revealed a lactate peak corresponding to the lesion. After that the patient presented slowly progressive psychomotor decline. He had myoclonic seizures and cerebellar ataxia since the age of 12. At age 21, he was admitted to our hospital because of confusion and cranial MRI revealed symmetrical lesions in bilateral posterior putamen, thalami and midbrain. Then repeated MRI showed progression of original lesions and new frontal multiple stroke-like lesions. Symptomatic and rehabilitation treatment relieved his condition. Follow-up cranial MRI at age 24 showed the lesions in basal ganglia and thalami diminished, and the midbrain lesions even completely vanished. Muscle pathology indicated the presence of numerous scattered ragged-red fibers (RRF), suggestive of a mitochondrial disorder. Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) detected the m.8344A>G mutation of the MT-TK gene encoding mitochondrial transfer RNA for lysine in the patient's blood. Next generation sequencing (NGS) of the whole mitochondrial genome identified that the proportion of m.8344A>G was 90%, and no other mtDNA mutation was detected. Sanger sequencing further identified this mutation both in the proband and his mother's blood, although the mutation load was much lower in his mother's blood with approximately 10% heteroplasmy.@*CONCLUSION@#The present study is the first to describe a patient with m.8344A>G mutation in association with the MELAS/MERRF/Leigh overlap syndrome, which expands the phenotypic spectrum of the m.8344A>G mutation.

Results of 24-hour esophageal impedance-pH monitoring in 141 patients with gastroesophageal reflux disease / 中华消化杂志

Objective To analyze the relationship between body type,age,gender,esophageal motility function,lower esophageal sphincter pressure (LESP) and clinical classification and type of reflux contents of patients with gastroesophageal reflux disease (GERD).Methods From September 2015 to July 2016,at Beijing Tongren Hospital of China Capital Medical University,the results of 24-hour esophageal impedance-pH monitoring of 141 patients with GERD were retrospectively analyzed.The differences of reflux contents were compared in patients with GERD among different body type,age,gender,esophageal motility function,LESP and clinical classification.Mann-Whitney test was performed for comparison between groups.Results Acid reflux was more common in obese patients (body mass index more than 23.9 kg/m2) compared with patients with normal body type (body mass index from 18.5 to 23.9 kg/m2) (18.5,7.0 to 45.3 vs.10.0,2.0 to 32.0),and the difference was statistically significant (Z =-2.320,P =0.020).Patients under 65 years old had more numbers of weak acid reflux,non-acid reflux and gas reflux than patients over 65 years old (58.5,32.8 to95.0 vs.40.0,24.0to71.0;19.5,6.0to47.5 vs.8.0,3.0 to19.0;46.0,23.8to79.3 vs.35.0,11.0 to 56.0),and the differences were statistically significant (Z =-2.690,-3.286 and-2.091,all P＜0.05).Male patients had more gas and mixed reflux compared with female patients (53.5,24.0 to 122.8 vs.36.0,19.0 to 67.0;34.0,20.8 to 50.0 vs.27.0,14.0 to 43.0),and the differences were statistically significant (Z =-2.424 and-1.961,both P ＜ 0.05).There was no statistically significant difference in reflux contents between patients with normal esophageal motility and patients with esophageal motility disorder (weak or interrupted peristalsis) (all P ＞ 0.05).Patients with reflux esophagitis(RE) and/or Barrett's esophagus (BE) had more weak acid reflux,non-acid reflux and gas reflux compared with patients with non-erosive reflux disease (NERD) (61.0,31.3 to 102.5 vs.44.0,24.5 to 66.5;18.0,8.0 to 36.5 vs.8.0,2.0 to 22.0;49.5,27.5 to 86.5 vs.26.0,11.0 to 47.0),and the differences were statistically significant (Z =-2.585,-2.942 and-3.278,all P ＜ 0.05).Patients with lower esophageal sphincter (LES) relaxation were more likely to have weak acid reflux than patients with normal LES function (57.0,32.3 to 87.0 vs.40.0,21.0 to 73.0),the difference was statistically significant (Z =-2.065,P =0.039).Conclusion Body type,age,gender,LESP and clinical classification are related to type of reflux contents in GERD patients,while esophageal peristalsis is irrelevant.

A case of middle-aged mitochondrial encephalomyopathy with multiple cerebrovascular stenosis / 中国脑血管病杂志

A case of middle-age-onset mitochondrial encephalomyopathy,lactic acidosis and stroke-like episodes (MELAS) type mitochondrial myopathy was retrospectively analyzed, and clinical features and diagnostic criteria of MELAS with multiple cerebrovascular stenosis in the middle-aged were summarized. The patient was a middle-aged woman who suffered from repeated headaches and limb convulsions and admitted by Xuanwu Hospital Capital Medical University. She had various risk factors of atherosclerosis. Related examination revealed multiple intracranial vascular stenosis. The lesions could be caused by the stenotic vessels. Therefore, the first diagnosis was ' acute cerebral infarction' after admission. But the clinical symptoms were characterized by ' relapse-remission'. The patient also suffered from headaches, seizures, and cognitive decline. There was past history of ' neurological deafness' and hearing loss in both ears. Magnetic resonance imaging (MRI) showed that ischemic lesions were distributed in the cortex. So further examinations were conducted. She was diagnosed as MELAS-type mitochondrial myopathy by head MR, magnetic resonance spectroscopy (MRS) and genetic examination. Neurotrophic factors, mitochondria-protection,anti-epilepsy,and relief therapy were given. The genetics and clinical manifestations of MELAS-type of mitochondrial myopathy are broadly heterogeneous. For middle-age-onset patients who have various atherosclerotic risk factors and stroke-like symptoms, doctors should be cautious about the mitochondrial disease by dynamically observing patient's clinical symptoms and head MRI, and perform pathology and gene mutation examination for comprehensive analysis. Only in this way,can we timely consider the possibility of mitochondrial encephalomyopathy and correctly make diagnosis as early as possible.

Study on impulsivity and cognitive function in patients with manic episodes of bipolar Ⅰ disorder / 中华行为医学与脑科学杂志

Objective To explore the role of impulsivity in manic episodes of bipolar I disorder and cognitive impairment. Methods Sixty-one patients with bipolar I manic-episode ( study group) and 43 healthy volunteers (control group) were included in the study,and the cognitive function and impulsivity of the subjects were assessed using the MATRICS consensus cognitive battery (MCCB) and BIS-11 impulsivity scale (BIS-11). The differences in impulsivity and cognitive function between the study group and control group were compared. Partial correlation analysis was used to analyze the correlation between impulsivity and cognitive function in patients with bipolar I manic episode. Results ( 1) The scores of several cognitive function in study group,were significantly lower than those in healthy control group including information pro-cessing speed,attention alertness,word learning,visual learning,working memory,reasoning and problem sol-ving (all P<0. 01). (2)The total score,motor factor score and cognitive factor score of BIS-11 impulse scale in study group were significantly higher than those in control group (58. 39±15. 77 vs 48. 02±11. 16,62. 09± 19. 01 vs 44. 24±21. 09,56. 97±16. 57 vs 50. 06±13. 87,all P<0. 05). Increased overall scores on the bis-11 impulse inventory may be a risk factor for bipolar I episodes( OR=1. 204,95% CI=1. 032-1. 404). (3) In study group,the total score of BIS-11 was negatively correlated with the speed of information processing, working memory,word learning,reasoning and problem solving,and the total score of MCCB(r=-0. 417,-0. 360,-0. 294,-0. 348,-0. 348,P<0. 05). The score of unplanned factor was negatively correlated with the speed of information processing,word learning,the total score of MCCB(r=-0. 397,-0. 302,-0. 358,P<0. 05). The score of cognitive factor was negatively correlated with the speed of information processing,work-ing memory,word learning,reasoning and problem solving,and the total score of MCCB(r=-0. 327,-0. 351,-0. 374,-0. 391,-0. 463,P<0. 05). The score of motor factor was negatively correlated with working memo-ry and the total score of MCCB(r=0. 370,r=0. 389,P<0. 05). Conclusion High impulsivity is a risk factor for manic episodes of bipolar I disorder and may be associated with cognitive impairment in patients with ma-nic episodes of bipolar I disorder.

Twenty-one episodes of peritonitis in a continuous ambulatory peritoneal dialysis patient: What is the root cause?

A 51-year-old female, with non-alcoholic liver cirrhosis, portal hypertension, type 2 diabetes mellitus, autosomal dominant polycystic kidney disease with a clipped cerebral aneurysm and chronic kidney disease stage 5 was on continuous ambulatory peritoneal dialysis (CAPD) for 6.5 years elsewhere. She came for opinion on continuation of CAPD as she had 21 episodes of peritonitis in 76 months. Her blood pressure was 80/50 mmHg. She was on haemodialysis with a temporary central access for 2 weeks. She had no abdominal tenderness, and exit site looked normal. Fluid was negative for Mycobacterium tuberculosis. Laparoscopically, we replaced the catheter with a new swan-neck Tenckhoff double-cuff catheter through a different exit site in the same sitting. Catheter-tip biofilm culture isolated Enterococcus casseliflavus. Peritoneal sampling biopsy showed evidence of fibrosis. She has adequate ultrafiltration and is currently on automated peritoneal dialysis for 5 months.

Episodios Ictales: Descripción de un Caso Clínico / Ictal events: a case report

Caso clínico de una paciente de once años que debuta con episodios de pérdida de tono y luego hipersomnolencia. Consulta en reiteradas ocasiones con el diagnóstico de epilepsia, con estudios electroencefalográficos y resonancia magnética cerebral, normales. Tratada durante un año con ac. valproico. Posteriormente se indica realización de Polisomnograma y Test de latencias múltiples de Sueño, confirmándose diagnóstico de narcolepsia y un trastorno del ánimo. Se inicia tratamiento con psicoestimulantes y antidepresivos. Evoluciona, con una mejoría de su cataplejía, hipersomnia y aspecto anímico. Se analiza caso, como diagnóstico diferencial de niños con episodios de pérdida de tono muscular e hipersomnolencia diurna, con conservación de conciencia y además se discute el manejo y las comorbilidades asociadas.Palabras claves: Episodios ictales, hipersomnolencia, narcolepsia, cataplejía, síncope

Summary: Case report of an eleven year old patient who debuts with hypersomnolence and episodes of muscle tone loss. She repeatedly receives a diagnosis of epilepsy, with normal EEG studies and brain MRI. She received a 12 month course of valproic acid treatment. A polysomnogram and multiple sleep latency test were subsequently performed, confirming a diagnosis of narcolepsy and a mood disorder. She begins treatment with antidepressants and psychostimulants. At follow up, she shows an improvement of her cataplexy, hypersomnia and mood disorder.We analyze this case to consider this pathology in the differential diagnosis of children with daytime hypersomnolence and episodes of muscle tone loss, with conserved awareness, as well as to discuss management and associated comorbidities. Key words: Ictal hypersomnolence, narcolepsy, cataplexy, syncopal episodes.

Atypical Radiologic Manifestation of NARP Mimicking MELAS: a Case Report

Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a rare maternally inherited mitochondrial disorder. Radiologic findings in NARP syndrome are varied; they include cerebral and cerebellar atrophy, basal ganglia abnormalities, and on rare occasions, leukoencephalopathy. This article describes an extremely rare case of NARP syndrome mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

Health Risk Impacts of Exposure to Airborne Metals and Benzo(a)Pyrene during Episodes of High PM10 Concentrations in Poland / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To check whether health risk impacts of exposure to airborne metals and Benzo(a) Pyrene during episodes of high PM10 concentrations lead to an increased number of lung cancer cases in Poland.</p><p><b>METHODS</b>In this work, we gathered data from 2002 to 2014 concerning the ambient concentrations of PM10 and PM10-bound carcinogenic Benzo(a)pyrene [B(a)P] and As, Cd, Pb, and Ni. With the use of the criterion of the exceedance in the daily PM10 mass concentration on at least 50% of all the analyzed stations, the PM10 maxima's were selected. Lung cancer occurrences in periods with and without the episodes were further compared.</p><p><b>RESULTS</b>During a 12-year period, 348 large-scale smog episodes occurred in Poland. A total of 307 of these episodes occurred in the winter season, which is characterized by increased emissions from residential heating. The occurrence of episodes significantly (P < 0.05) increased the concentrations of PM10-bound carcinogenic As, Cd, Pb, Ni, and B(a)P. During these events, a significant increase in the overall health risk from those PM10-related compounds was also observed. The highest probability of lung cancer occurrences was found in cities, and the smallest probability was found in the remaining areas outside the cities and agglomerations.</p><p><b>CONCLUSION</b>The link between PM pollution and cancer risk in Poland is a serious public health threat that needs further investigation.</p>

Arginine and Citrulline for the Treatment of MELAS Syndrome

Abstract Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations. In addition to impaired energy production, nitric oxide (NO) deficiency occurs in MELAS syndrome and leads to impaired blood perfusion in microvasculature that can contribute to several complications including stroke-like episodes, myopathy, and lactic acidosis. The supplementation of NO precursors, L-arginine and L-citrulline, increases NO production and hence can potentially have therapeutic utility in MELAS syndrome. L-citrulline raises NO production to a greater extent than L-arginine; therefore, L-citrulline may have a better therapeutic effect. The clinical effect of L-citrulline has not yet been studied and clinical studies on L-arginine, which are limited, only evaluated the stroke-like episodes' aspects of the disease. Controlled studies are still needed to assess the clinical effects of L-arginine and L-citrulline on different aspects of MELAS syndrome.

Clinical features of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes syndrome in twin brothers / 临床儿科杂志

Objective To explore the clinical features of mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS) syndrome in fratemal twins brothers.Methods The clinical data,the results of laboratory examinations,electroencephalogram (EEG),imaging,and gene detection,and the process of diagnosis and treatment were retrospectively analyzed the fraternal twin brothers with MELAS syndrome.Results The proband,a 7-year-old male,had intermittent headaches,vomit and twitching at onset.He suffered from exercise intolerance,fatigue,accompanied by short stature and hairy.The fasting blood lactic acid level was increased.Multiple video EEG showed the slowdown of background activity.Head MRI showed recurrent lesions with the characteristics of migration and variation.The point mutation rate of mtDNA A3243G was 34.7％.The diagnosis of MELAS was confirmed.At the same time,his fraternal twin brother was screened and found that his point mutation rate of A3243G was 30.0％.Although there was no clinical symptom at that time,he was onset with convulsion after 3 years.Conclusions Gene detection and family screening are helpful for the early diagnosis of MELAS.The mutation rate of A3243G is very high,which can cause an early onset and serious clinical symptoms.

Clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes syndrome (report of 1 case) / 临床神经病学杂志

Objective To explore the classical clinical features of mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) syndrome.Methods The clinical data of 1 MELAS syndrome patient was analyzed retrospectively.Results This patient suffered from the symptoms of stroke such as speech disorder and abnormal behavior at the beginning.She had a medical history of maternal family.There were headache and seizure in the process of the disease.The result after a physical examination showed that the patient had hearing loss, visual field defect and decrease of muscle strength.The CT and MRI scan of head showed that the patient had a stroke like lesion which did not follow the distribution of blood vessels.The blood and cerebrospinal fluid examination has ruled out viral and autoimmune encephalitis.The final diagnosis of MELAS syndrome was confirmed by gene analysis.The gene mutation was the m.3243A>G mutation.The clinical symptoms of the patient were comprehensive and the imaging findings were typical.Conclusions Main clinical manifestations of MELAS syndrome are stroke like seizures, epilepsy, headache, dementia, hearing impairment, peripheral neuropathy, myopathy, lactic acidosis, diabetes and so on.Main imaging features of the disease are stroke like lesions, basal ganglia calcification and brain atrophy.

Clinical analysis of mitochondrial encephalomyopathy with lactic acidosis and stroke -like episodes in children / 中华实用儿科临床杂志

Objective To investigate the clinical,imaging,pathological and molecular biological features of mitochondrial encephalomyopathy with lactic acidosis and stroke -like episodes(MELAS)in children.Methods The clinical,imaging,pathological and molecular biological features of 1 2 children with MELAS diagnosed through muscle biopsy or gene sequencing in the Fifth Affiliated Hospital of Zhengzhou University from January 201 1 to December 201 5 were retrospectively analyzed.Results (1 )Clinical features:the main manifestations included headache and vomiting in 1 1 cases,epileptic seizures in 9 cases,short stature in 8 cases,hairy in 7 cases,intolerance fatigue in 7 cases,cogni-tive decline in 7 cases,visual disturbance in 6 cases,hearing disturbance in 6 cases,and 5 cases had positive family history.In addition,7 cases had the serum lactic acid level increase in a rest for 1 0 min after exercise.(2)Imaging fea-tures:4 cases showed bilateral basal ganglia calcification symmetry in 8 patients who underwent head CT scan.The most frequently involved parts of the lesion were occipital in 1 0 cases,temporal in 9 cases and parietal lobe in 7 cases in stroke -like episodes.The lesions were lamellar necrosis.The abnormal areas by MRI showed low signal intensity on T1 weighted imaging,high signal intensity on T2 weighted imaging and fluid attenuated inversion recovery,high or equal signal intensity on diffusion weighted imaging,high or low signal intensity on apparent diffusion coefficient;the lactate peak significantly increased on magnetic resonance spectroscopy.The distribution was not in accordance with the control region of the cerebral vessels.Dynamic observation revealed that the lesions were reversible and migratory.(3)Myo-pathological features:muscle biopsy was performed in all children,and ragged -red fibers were found in 1 0 cases by im-proved Gomori staining,strongly succinate dehydrogenase -reactive were found in 9 cases,and the lipid droplets slight-ly increased in 8 cases by oil red O staining.Besides,the crystalline inclusion bodies in mitochondria were arranged in a parking lotpattern in 9 cases by electromicroscope.(4)Molecular biological characteristics:the mitochondrial gene mutations were analyzed in peripheral blood of 9 children and their parents,including 8 cases with A3243G muta-tion and 1 case with G13513A mutation.Five mothers had the same A3243G mutation site in 8 cases.Conclusions Children with MELAS have complex and varied clinical manifestations and certain characteristic of neuroimaging.More-over,muscle pathology and gene sequencing have important diagnostic value.Fully understanding the clinical,muscle pathology,imaging and molecular biological characteristics of children with MELAS can be helpful to the early diagnosis and treatment,also reduce misdiagnosis.

Never, once, and repeated illness: a geometric view for insights and interpretations.

Background: Medical/health researchers depend on data evidence for knowledge discovery. At times, data analysis to capture the data evidence is overwhelming and the process becomes too tedious to give up the attempt. A prudent thing to do is to seek out a simpler visual approach to obtain insights. One visual approach is devised in this article to understand what the data are really revealing to either get an insight first or then confirm what is intuitively configured by the medical concepts. This visual approach is geometric concepts based. In specific, triangle is employed in this new and novel approach. Methods: A successful treatment of any illness is a consequence of knowledge build-up arising from data mining about the never, once, or repeated episode of a disease incidence in a patient. This article investigates and illustrates a novel and pioneering geometric approach, especially based on the properties of triangle, to extract hidden evidence in the data. New probabilistic expressions are derived utilizing trigonometric relations among the corner points of a triangle. The conceptual contents of this article are versatile enough for different medical/health data analysis. Results: For illustration here, the medical binomial data in Hopper et al. (Genetic Epidemiology, 1990) on the occurrence of asthma or hay fever among the four groups: (1) monozygotic females (MZF), (2) monozygotic males (MZM), (3) di-zygotic females (DZF), and (4) di-zygotic males (DZM) are considered and triangularly interpreted. The results indicate that the angle in the vertex representing one episode is the largest compared to the other two angles in the vertices representing never or repeated episode of an illness among a random sample of twins from these four groups with respect to getting asthma or hay fever. This geometric finding implies that the event of never and the event of repeated incidence of the illness have farthest Euclidean distance in probability sense. In other words, the never and repeated incidences are not in close proximity as probable. Conclusions: This geometric view of this article is versatile enough to be useful in other research studies in drug assessment, clinical trial outcomes, business, marketing, finance, economics, engineering and public health whether the data are Poisson or inverse binomial type as well.