Correlation between serum zinc and brain injury in infants with mild gastroenteritis complicated with benign infantile convulsion and febrile convulsion / 中华危重病急救医学

Objective:To investigate the association between serum zinc levels and convulsive brain injury in infants with mild gastroenteritis complicated with benign infantile seizures (BICE) and febrile seizures (FC).Methods:A case-control study method was conducted. 120 children with mild gastroenteritis and convulsion admitted to the First Affiliated Hospital of Hebei North University from January 2020 to January 2022 were enrolled as the research subjects. They were divided into BICE group and FC group according to the type of convulsion. The serum zinc level, the frequency and duration of convulsion, and the occurrence of convulsive brain injury in the two groups were recorded. Multivariate Logistic regression analysis was used to screen the risk factors for convulsive brain injury. The Spearman correlation method was used to analyze the association between serum zinc levels, clinical characteristics of convulsion and convulsive brain injury.Results:A total of 120 children were enrolled, of which 81 developed to BICE and 39 developed to FC during hospitalization. The serum zinc level of children in the FC group was significantly lower than that in the BICE group (μmol/L: 39.24±6.50 vs. 48.65±7.21, P < 0.01). In the BICE group and FC group, the serum zinc level in children with more than 2 convulsions was significantly lower than that in the children with one convulsion (μmol/L: 37.65±6.50 vs. 53.17±7.55 in the BICE group, and 30.27±5.58 vs. 44.16±7.57 in the FC group, both P < 0.01). Serum zinc level in children with convulsion duration ≥5 minutes was significantly lower than that in the children with convulsion duration < 5 minutes (μmol/L: 38.75±6.74 vs. 51.21±7.58 in the BICE group, and 31.08±5.46 vs. 45.19±7.25 in the FC group, both P < 0.01). Moreover, the serum zinc level of children with different convulsion frequency and duration in the FC group was significantly lower than that in the BICE group (all P < 0.01). Among the 120 children, 9 cases of convulsive brain injury occurred, and the incidence rate was 7.50%. The incidence of convulsive brain injury in the BICE group was 1.23% (1/81), which was significantly lower than 20.51% in the FC group (8/39, P < 0.01). The serum zinc level of children with convulsive brain injury was significantly lower than that of children with non-brain injury (μmol/L: 28.50±5.00 vs. 60.22±7.31, P < 0.01), and the number of convulsion was significantly higher than that of non-cerebral injury (≥ 2 convulsions: 100.00% vs. 1.80%, P < 0.01), and the duration of convulsion in children with brain injury was significantly longer than that of non-brain-injured children (convulsion duration ≥5 minutes: 100.00% vs. 11.71%, P < 0.01). Multivariate Logistic regression analysis showed that decreased serum zinc level [odds ratio ( OR) = 2.147, 95% confidence interval (95% CI) was 1.354-3.403], increased number of convulsion ( OR = 3.452, 95% CI was 1.266-9.417), and prolonged convulsion duration ( OR = 3.117, 95% CI was 1.326-7.327) were independent risk factor for convulsive brain injury in children with mild gastroenteritis and convulsion (all P < 0.05). Spearman correlation analysis showed that serum zinc level, convulsion ≥2 times, duration of convulsion ≥5 minutes and convulsion ≥2 times + convulsion duration ≥5 minutes were significantly negatively correlated with the occurrence of convulsive brain injury in FC children ( r values were -0.546, -0.517, -0.522, and -0.528, all P < 0.01). There was no significant correlation between serum zinc level, convulsion ≥2 times, convulsion duration ≥5 minutes and convulsion ≥2 times+convulsion duration ≥5 minutes and convulsive brain injury in BICE children ( r values were -0.281, -0.129, -0.201, -0.243, all P > 0.05). Conclusions:Serum zinc level is related to the characteristics of convulsive symptoms in children with mild gastroenteritis complicated with FC, and has a strong negative correlation with the occurrence of convulsive brain injury. Active targeted intervention and treatment may help reduce the incidence of brain injury in children.

Can a Neonate Shiver ? — A perioperative Diagnostic Dilemma and a Short Literature Review

Background: Neonates often show involuntary movements peri-operatively which are difficult to diagnose. Neonatal Shivering albeit very rare, may confuse the anaesthesiologist by presenting as Seizures. Case : A Neonate was scheduled for the repair of Lumbar Meningomyelocele in our Operating Room. At the end of an uneventful Surgery, we noticed jittery movements during recovery from Anaesthesia. Differentiating these movements from Neonatal Shivering, Motor Automatisms and Physiological New-born Behaviour was a challenge. The immediate venous blood gas analysis was within normal limits and no apparent cause could be found. Suspecting accidental Hypothermia, Immediate rewarming was initiated and after Consulting Paediatric Neurology intravenous Levetiracetam was given. There were no further similar episodes. Conclusion : Shivering-like episodes in Neonates during the peri-operative period need to be carefully evaluated to allay parental anxiety, avoid inappropriate treatment and prevent any further complications

Analysis of 1 case of convulsion death caused by large dose of diquat poisoning / 中华劳动卫生职业病杂志

A retrospective analysis of a case of death from sudden convulsions caused by oral high-dose diquat was conducted, and the mechanism and treatment of central damage caused by diquat were investigated to lay the foundation for increasing the success rate of treatment of high-dose diquat poisoning. At the same time, at the same time, our clinical treatment experience has also been accumulated.

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions / 医学前沿

Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine its influencing factors. We screened 222 PKD index patients and their available relatives, identified 39 families with pathogenic or likely pathogenic (P/LP) PRRT2 variants via Sanger sequencing, and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants from the literature. Penetrance was estimated as the proportion of affected variant carriers. PRRT2 penetrance estimate was 77.6% (95% confidence interval (CI) 74.5%-80.7%) in relatives and 74.5% (95% CI 70.2%-78.8%) in obligate carriers. In addition, we first observed that penetrance was higher in truncated than in non-truncated variants (75.8% versus 50.0%, P = 0.01), higher in Asian than in Caucasian carriers (81.5% versus 68.5%, P = 0.004), and exhibited no difference in gender or parental transmission. Our results are meaningful for genetic counseling, implying that approximately three-quarters of PRRT2 variant carriers will develop PRRT2-related disorders, with patients from Asia or carrying truncated variants at a higher risk.

A study of febrile convulsions with a bacteremia incidence in a tertiary care teaching hospital in Andhra Pradesh

Background: A febrile convulsion is linked with high temperature but without significant underlying health issues. These occur most often in children aged six months to five years. Most of the convulsions last less than five minutes, and within an hour of the occurrence, the child is entirely back to normal.Methods: Sixty children aged 3 months to 5 years admitted to the emergency pediatric ward with a history of convulsion fever with convulsions, in Narayana Medical College and Hospital were taken up for the study with clinical history, clinical examination, laboratory Investigations.Results: Among 60 children in the study group, 15 (25%) of them were aged between 3 months to 12 months, 21 (35%) of them were between 13 months to 24 months. Gender 36 (60%) are male children. 24 (40%) are female children. Family history of convulsions was positive in 18 (30%) of the 60 (100%) cases, and 7 had family history of epilepsy. 42 (70%) are negative. Most of the cases (85%) showed no growth in blood culture.Conclusions: Blood culture should be performed in all children by febrile convulsions, especially those under the stage of two years. Streptococcus pneumonia was the organism isolated from respiratory tract infection in a child with febrile convulsion with significant bacteremia. The symptoms that present can be as harmless as rhinorrhea or cough. Children with a positive family history of afebrile convulsion should be closely monitored and test, as they can develop epilepsy later.

Crisis sintomáticas agudas y epilepsia en niños y adolescentes en época de COVID-19 / Acute symptomatic crisis and epilepsy in children and adolescents in times of COVID-19

Objetivo: Describir los aspectos de mayor relevancia en niños y adolescentes con crisis sintomáticas agudas o diagnóstico de epilepsia, en tiempo de pandemia de la COVID-19. Métodos: La información se obtuvo de las bases de datos PubMed/Medline, Scielo, y Clinical Key utilizando palabras clave incluidas en el Descriptor de Ciencias de la Salud en idioma inglés o español, sin límite de tiempo, y todo tipo de publicación; se seleccionaron los artículos relacionados con epilepsia, crisis epilépticas, y COVID-19. Resultados: En la literatura se justifica la ocurrencia de crisis epilépticas por varias causas en enfermos con la COVID-19 y se insiste en la conducta terapéutica y la necesidad de vigilancia de las interacciones farmacológicas entre los medicamentos indicados para la prevención de recurrencia de las crisis epilépticas y los específicos para esta nueva enfermedad. Basado en estos criterios, presentamos una propuesta para la conducta a seguir en cada situación. Consideraciones finales: Esta comprobada la posibilidad de que ocurran complicaciones neurológicas en pacientes con la COVID-19 y específicamente en las crisis epilépticas y la epilepsia. El uso de interferón y lopinavir/ritonavir, en caso de estar indicado en los protocolos de actuación, y el mantenimiento del tratamiento previo con los medicamentos para prevenir la recurrencia de crisis en los epilépticos, considerando las posibles interacciones y la vigilancia requerida en cada caso, parece ser la mejor opción en la mayoría de los niños y adolescentes con COVID-19(AU)

Objective: To describe the most outstanding aspects in children and adolescents with acute symptomatic crisis or diagnosis of epilepsy in times of the COVID-19 pandemic. Methods: The information was collected in PubMed/Medline, Scielo and Clinical Key databases using the keywords included in the Descriptor of Health Sciences in English or Spanish language, with not time limit, and looking for all kind of publications. There were selected articles related to epilepsy, epileptic seizures and COVID-19. Results: In the consulted literature, it was justified the occurrence of epileptic seizures due to different causes in patients with COVID-19 and it is highlighted the therapeutic behaviour and the need of surveillance of the pharmacologic interactions among the drugs indicated for the prevention of epileptic seizures and the specific of this new disease. Based in these precepts, we present a final proposal for the behaviour to follow in each situation. Final considerations: It is proved the possibility of neurologic complications in patients with COVID-19 and specifically in the epileptic seizures and epilepsy. The use of interferon and lopinavir/ritonavir, in case of being indicated in the action protocols, and to keep the previous treatment with the drugs to prevent the recurrence of crisis in epileptic patients considering the possible interactions and the required surveillance in each case, seems to be the best option in most of the children and adolescents with COVID-19(AU)

Encefalopatía Posterior Reversible asociada a Exacerbación de Enfermedad Pulmonar Obstructiva Crónica / Reversible Posterior Encephalopathy associated with Exacerbation of Chronic Obstructive Pulmonary Disease

Resumen El Síndrome de Encefalopatía Reversible Posterior (PRES) es una entidad clínica y radiológica reversible. Existen varias entidades clínicas que se asocian con PRES. La enfermedad pulmonar obstructiva crónica (EPOC) es un factor predisponente poco frecuente para el desarrollo de esta patología. Se presenta el caso de una mujer de 71 años de edad que estaba siendo tratada por una exacerbación aguda de EPOC y desarrolló alteración del sensorio y crisis convulsivas. Los hallazgos de imágenes características, los síntomas clínicos asociados y su historial médico llevaron a un diagnóstico de PRES en nuestro paciente. A pesar de que la asociación de PRES y EPOC es una entidad poco común, el diagnóstico de PRES debe ser un diferencial en caso de que un paciente desarrolle encefalopatía o convulsiones en la exacerbación de EPOC.

Abstract Posterior Reversible Encephalopathy Syndrome (PRES) is a reversible clinical and radiological entity. There are several entities that are associated with PRES. Chronic obstructive pulmonary disease (COPD) is a rare factor for the development of this condition. We present the case of a 71-years-old woman who was being treated for an acute exacerbation of COPD and developed sensory impairment and seizures. The findings of characteristic images, associated clinical symptoms and their medical history led to a diagnosis of PRES in our patient. Although the association of PRES and COPD is a rare entity, the diagnosis of PRES should be a differential if a patient develops encephalopathy or seizures in the exacerbation of COPD.

Aetiology of Convulsions in Relation to Clinical, Electrophysiological and Radiological Changes and Management

Introducion: An epileptic seizure may be conceptualized as aparoxysmal pathological process in the brain of a heterogeneousetiology with heteromorphic clinical and electrophysiologicalmanifestation. Current research aimed to study the aetiologyof convulsions in relation to clinical, electrophysiological andradiological changes and management.Material and methods: It was a prospective study carried outon 50 patients of convulsions admitted in the medical wards.Patients with convulsions of all age groups were included inthis study.Results: The incidence of convulsions in those people below18 years of age was 30% and in adults above 50 years ofage was 30%. The incidence is not in confirmation withporter’s studies where it is highest above 80% in the childrenbelow 18 years age. Most common etiology in study wascerebrovascular accidents 13(26%) and followed by infractionin 10 cases(20%). Incidence of seizure was more in males thancompared to females. Most of the patients with seizures werepresented with generalised tonic clonic seizures(20 cases).Conclusion: Focal seizures were more commoner than othergroups of seizures. 20% of patients in this study remainedundiagnosed with obscure aetiology.

Neuro-imaging study in eclampsia

Background: Eclampsia is associated with increased risk of maternal death varying from 1.8 % in developed countries to 14 % in developing countries. Cerebral complications are the major cause of death in eclampsia patients. Eclampsia along with hypercoagulopathy of pregnancy is a high risk fact for patient in respect of development of cerebrovascular thrombosis/haemoorhage. Eclampsia patients have been found to have various CNS pathological conditions amenable to the medical treatment. The aim of the study is to know the neuropathophysiology behind an eclamptic seizure to reduce the morbidity associated with it.Methods: Prospective study design included 50 patients for the study. All patients were admitted in the eclampsia room with h/o convulsions. All patients were put on MgSO4 therapy and anti-hypertensive. Cranial CT scan examinations were performed for all patients within 24hours of last convulsion without intravenous contrast material injection. Time taken to recover from all the clinical symptoms like altered consciousness, defective vision, headache and seizure and the maternal outcome are compared.    Results: 62% of patients with eclampsia had detectable pathological changes in CT scan. Cerebral edema was the most common CT scan finding with parietal lobe was the most common site (90.32%) of pathological changes. Mortality rate was high among eclamptic patients with cerebral hemorrhage.Conclusions: CT scan was found to be effective in detecting cerebral pathology in more than half of the eclamptic patients. The most common pathological changes detected are cerebral edema and cerebral infarction. CT scan may not be required for the diagnosis of eclampsia, but it must be used in certain complicated patients to detect cerebral pathology at the earliest so that specific management could be provided to reduce the maternal mortality.

Levetiracetam versus Phenobarbitone in Neonatal Seizures –A Randomized Controlled Trial

Objective: To compare the efficacy and safety of intravenous Levetiracetam andPhenobarbitone in the treatment of neonatal seizures. Design: Open labelled, Randomizedcontrolled trial. Setting: Level III Neonatal Intensive Care Unit (NICU). Participants: 100neonates (0-28 days) with clinical seizures. Intervention: If seizures persisted even aftercorrection of hypoglycemia and hypocalcemia, participants were randomized to receive eitherLevetiracetam (20 mg/kg) or Phenobarbitone (20 mg/kg) intravenously. The dose of samedrug was repeated if seizures persisted (20 mg/kg of Levetiracetam or 10 mg/kg ofPhenobarbitone) and changeover to other drug occurred if the seizures persisted even aftersecond dose of same drug. Main outcome measures: Cessation of seizures with one or twodoses of the first drug, and remaining seizure-free for the next 24 hours. Results: Seizuresstoped in 43 (86%) and 31 (62%) neonates in Levetiracetam and Phenobarbitone group,respectively (RR 0.37; 95%CI 0.17, 0.80, P<0.01). 10 neonates had adverse reactions in thephenobarbitone group (hypotension in 5, bradycardia in 3 and requirement of mechanicalventilation in 2 neonates) while none had any adverse reaction in Levetiracatam group.Conclusion: Levetiracetam achieves better control than Phenobarbitone for neonatalseizures when used as first-line antiepileptic drug, and is not associated with adverse drugreactions.

Etiological Evaluation of Convulsions in Children between 1 Month to 5 Years of Age in Tertiary Care Hospital, Guntur.

Introduction: Seizure is a common problem evaluated inpediatric emergency department. The different causes ofseizures are febrile seizures, CNS infections, metabolic,developmental defects, traumatic brain injury, vascularaccidents, brain tumors and idiopathic or epilepsy. Currentresearch aimed to study the etiology of convulsions in childrenbetween 1 month to 5 years of age admitted in pediatricward, Government General Hospital, Guntur. To assess thecommon incidence of convulsions in children of age 1 to 5years admitted to pediatric ward, Department of Pediatrics,Government General Hospital, Guntur.Material and methods: Our study was retrospective,descriptive study. 100 cases admitted to pediatric ward,Government General Hospital, Guntur with convulsions in theage group of 1 month to 5 years during the period of July 2018and April 2019. Study was done by detailed history, throughphysical examination and relevant investigations includingcomplete blood counts, serum electrolytes, serum glucose,serum calcium, CSF analysis, EEG and neuroimaging (CT/MRI brain) studies. Variables recorded were demographics,clinical presentation, laboratory investigations, EEG andneuroimaging.Results: The most common cause of seizures in our study wasfebrile seizures (32%). About 24% cases were due to epilepsy(idiopathic or unprovoked) and 33% cases were symptomaticseizures of various causes like CNS infection, metabolic,traumatic, vascular etc.Remaining 11% were due to othermiscellaneous causes.Conclusion: This was the hospital based retrospective,descriptive study to know the etiology of convulsions inchildren between 1 month to 5 years. Convulsions in childrencan be due to various underlying pathology. In our study mostcommon cause of convulsions was febrile seizures, followedby epilepsy and symptomatic seizures of infective etiology ofCNS, viral encephalitis being the most common.

Clinical manifestations in calotropis poisoning: a prospective study in Government General Hospital Nalgonda, India

Background: Calotropis procera commonly known as Madar is common shrub all over India. Its chemical component Calotropin, which is derived from latex is known to cause injury to eyes and oral mucosa. Toxic manifestations following accidental ingestion are mostly gastrointestinal. This study was aimed at studying the various clinical manifestations of Calotropis poisoning in patients admitted to GGH Nalgonda.Methods: This prospective observational study was done from Feb 2019 to May 2019.All patients both male and female admitted to GGH Nalgonda during this period were studied. Patients below 12 years, pregnant women and patients with earlier gastritis, hepatitis, stomatitis were excluded from the study. The study was carried out in all patients fulfilling the inclusion and exclusion criteria.Results: A total of 60 patients 45 females and 15 males presented during the study period. Most of the patients presented with abdominal pain 15 (25%), hepatitis 10 (16.6%), stomatitis 12 (20%), vomiting 8 (13.3%), diarrhea 6 (10%), hyperkalemia 3 (5%), tachycardia 5 (8.3%), convulsion 1 (1.6%).Conclusions: It was observed from the study that most of the patients had abdominal pain as the major symptom. Stomatitis was the second most common symptom. It was observed consumption of the toxin in lesser quantities produced these symptoms in large quantities produced tachycardia, hyperkalemia and convulsions.

Intermittent clobazam prophylaxis in simple febrile convulsions: a randomised controlled trial

Background: Febrile seizure (FS) is the most common type of childhood seizure disorder with a prevalence of 2-5% in children less than 5 years. Although the prognosis of febrile seizure is usually good, however, the possibility of recurrence keeps many parents and families in a state of anxiety and concerned, for years after the first seizure. Thus, intermittent prophylactic treatment might be advised in children with high risk of recurrence.Methods: The study was a prospective randomized, double blind, placebo-controlled trial conducted at Department of Pediatrics, Umaid Hospital, Dr S N Medical College, Jodhpur on neurologically normal children aged from 6 months to 5 years with a history of simple febrile seizures and normal electroencephalogram without any evidence of acute central nervous system infection. Subjects were randomly prescribed oral clobazam according to weight of child and placebo when they developed a febrile disease during the first 48 h of the onset of fever.' Temperature reduction measures with paracetamol and tepid sponging were also advised. Patients were followed up for the frequency and time of febrile seizure recurrence, febrile episodes and side effects of drugs for 12 months.Results: Ten (3.8%) of 257 episodes in clobazam group and 38 (14.07%) episodes in placebo group had seizure recurrence (p value <0.001). The two groups were not significantly different in terms of side effects. (p >0.05).Conclusions: Intermittent oral clobazam therapy is a very effective measure in preventing recurrence of febrile seizures.

Caracterización de encefalitis por Zika y atención de enfermería: caso clínico / Characterization of encephalitis by Zika and nursing attention: clinical case

Introducción:La encefalitis es un proceso inflamatorio del parénquima cerebral de forma aguda aumentando la morbilidad y mortalidad. Se ha relacionado con una rápida propagación de enfermedades transmitidas por mosquitos: virus del Nilo Occidental, dengue, encefalitis japonesa y Zika, principales amenazas para la salud pública. Está asociado a complicaciones con microcefalia en fetos, y síndrome de Guillian-Barré en adultos.Objetivo:Caracterizar los síntomas biológicos frecuentes en pacientes afectados por Zika, que permita la individualización de la acción enfermera durante el tratamiento en periodo de hospitalización.Descripcióndel caso:Paciente de 34 años de edad, 8 días de evolución, cuadro clínico típico de Zika con alza térmica, rash cutáneo, cefalea holocraneana, alteración del estado de la conciencia, ideas delirantes, lenguaje incoherente, conducta exhibicionista. Además, cuadro de agresividad, finalmente presenta convulsiones tónico clónico generalizado. Resultado de laboratorio positivo para Zika,EEG muestra ondas agudas sobre una base enlentecida con predominio bitemporal. Imagenología igual enlas Encefalitis Herpéticas con compromiso temporal bilateral con predominio en un hemisferio.Conclusiones:La encefalitis por virus Zikase caracterizó por presentar cuadro clínico característico de la enfermedad, signos y síntomas neurológicos, PCR en sangre y orina positivos, con alta probabilidad clínica epidemiológica de ser un caso de Encefalitis por Zika. La acción de Enfermería se centró: seguridad del paciente, control y valoración de signos vitales, control de estado de conciencia, cumplimiento de prescripciones farmacológicas médica, toma de muestras, preparación para exámenes especiales, manejo de líquidos.

Introduction:Encephalitis, cerebral parenchymal inflammatory process, is acute and there is important morbidity and mortality, it has been related to a rapid spread of diseases transmitted by mosquitoes: West Nile virus, dengue, Japanese encephalitis and Zika, main threats to the public health. Zika, associated with complications with microcephaly in fetuses, and Guillian-Barré syndrome in adults.Objetive:To characterize the frequent biological symptoms in patients affected by Zika, which allows the individualization of the nursing action during the treatment during the hospitalization period.Case description:Patient of 34 years of age, 8 days of evolution, typical Zika clinical picture with thermal boost, skin rash, holocranial headache, altered state of consciousness, delusional ideas, incoherent language, exhibitionist behavior. in addition, aggressiveness picture, finally presents generalized clonic tonic seizures. Positive laboratory for Zika, EEG shows sharp waves on a slow basis with bitemporal predominance. Imaging equal to Herpetic Encephalitis with bilateral temporal involvement predominantly in one hemisphere.Conclusions:Zikavirus encephalitis was characterized by a characteristic clinical picture of the disease, neurological signs and symptoms, positive blood and urine PCR, with a high clinical and epidemiological probability of being a case of Zika encephalitis. The nursingaction was focused: patient safety, control and evaluation of vital signs, control of state of consciousness, compliance with medical pharmacological prescriptions, taking of samples, preparation for special examinations, liquid handling.

Síndrome de Turcot / Turcotꞌs syndrome

RESUMEN Se presenta a una paciente de 27 años de edad, con varios ingresos en el Hospital Provincial Clínico Quirúrgico Docente “José Ramón López Tabrane”, de Matanzas. Por presentar clínica compatible con pólipos de colon, corroborados por videocolonoscopia, diagnosticados en marzo de 2015. Posteriormente reingresa a los 14 meses por convulsiones, al inicio generalizado y luego limitado al hemicuerpo derecho, cefalea universal y vómitos. Falleció a los 23 días de su ingreso, en los antecedentes patológicos familiares destaca madre fallecida a los 52 años por cáncer de colon y hermana a los 21 años por neoplasia maligna colorectal (AU).

ABSTRACT The case of a female patient, aged 27 years is presented. She was in-patient in the Teaching Clinical Surgical Provincial Hospital “José Ramón López Tabrane”, of Matanzas for several times presenting clinical characteristics compatible polyps in the colon, corroborated by video colonoscopy, and diagnosed in March 2015. She was readmitted 14 months later because of convulsions, generalized firstly and lately limited to the right side of the body, universal headache and vomits. She died 23 days after the admittance. The family history shows that her mother died when she was 52, due to colon cancer and her sister died at twenty one due to colorectal malignant neoplasia (AU).

Effect of animal medicines for "extinguishing wind to arrest convulsions" on central nervous system diseases / 中国中药杂志

The human health is seriously affected by central nervous system(CNS) diseases, but the pathogenesis of CNS diseases is still not completely clear. Currently, the drugs used to treat CNS diseases are mainly receptor modulators and neurotransmitter inhibitors, which have serious side effects; and there are short of drugs for treating CNS diseases clinically. Studies suggest that animal medicines mainly include protein, polypeptide and small-molecule compounds, and have such pharmacological effects in calming, resisting convulsions and improving brain tissues. Plenty of studies suggest that animal medicines usually have a strong activity and good curative effect on these diseases, with a promising prospect in research and development of drugs treating CNS diseases. Based on systematic reviews of literatures, this paper summarizes active ingredients and main pharmacological effects of animal medicines in "extinguishing wind to arrest convulsions" for the CNS diseases, epilepsy and cerebral ischemia, and discusses their study value and application prospects. The results showed that the studies of protein and peptides were relatively simple, and some animal medicines were still blank. The authors believed that amino acids and small molecular compounds should be transferred to oligopeptide, advanced protein extraction and separation techniques shall be adopted for identifying the protein polypeptide composition structure and studying the efficacy, and the methods of biological technology were used to develop peptide biological products for the treatment of CNS diseases. This paper could provide ideas and reference for developing animal medicine products for the treatment of CNS diseases.

Study of Pathogenic gene spectrum in benign familial infantile epilepsy / 中华实用儿科临床杂志

Objective To investigate the gene mutations in benign familial infantile epilepsy(BFIE)in Chi-na. Methods Data of all BFIE probands and their family members were collected from Peking University First Hospital and other three hospitals between October 2006 and June 2017. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing,candidate gene mutations were further screened by next - generation sequencing. Results A total of 71 families including 227 affected members were collected. Genetic testing led to the identification of gene mutations in 52 families (52 / 71,73. 2％). Forty - three families had PRRT2 mutations (43 / 71,60. 6％),including 40 families with frameshift mutations(hotspot mutations c. 649_650insC and c. 649delC were detected in 29 families and 6 families,respectively),one family with nonsense mutation,one family with a loss of a stop codon,and one family with a microdeletion of the gene. C. 560_561insT and c. 679C > T were novel PRRT2 mutations. Five families had SCN2A mutations. All SCN2A mutations were missense mutations(c. 668G > A,c. 752T > C,c. 1307T > C,c. 4835C > G,c. 1737C > G). Mutation c. 752T > C, c. 1307T > C,c. 4835C > G,and c. 1737C > G were novel mutations. Three families had KCNQ2 mutations. All KCNQ2 mutations were missense mutations(c. 775G > A,c. 237T > G,c. 1510C > T). Mutation c. 237T > G and c. 1510C > T were novel mutations. One family had a novel GABRA6 mutation c. 523G > T. In 71 BFIE families,16 families had mem-bers who showed paroxysmal kinesigenic dyskinesias(PKD)and subclassified as infantile convulsions with paroxysmal choreoathetosis syndrome(ICCA). Fifteen ICCA families were found having PRRT2 mutations (15 / 16,93. 8％). The remaining ICCA family was not detected with any pathogenic mutation. Conclusion There is high frequency of gene mutations in BFIE families. Mutations in KCNQ2,SCN2A,and PRRT2 are genetic causes of BFIE. PRRT2 is the main gene responsible for BFIE. GABRA6 mutation might be a new cause of BFIE.

Anticonvulsant mechanism of saponins fraction from adventitious roots of Ficus religiosa: possible modulation of GABAergic, calcium and sodium channel functions

ABSTRACT In our previous studies, quantified saponins-rich fraction from adventitious root extract of Ficus religiosa L., Moraceae, showed anticonvulsant effect in acute, as well as chronic mice models of epilepsy. The present study was designed to reveal putative anticonvulsant mechanism of quantified saponins-rich fraction using target specific animal models. The anticonvulsant effect of quantified saponins-rich fraction was initially studied in maximal electroshock and pentylenetetrazol test at 1, 2 and 4 mg/kg; i.p. doses. Based on the results of initial anticonvulsant testing, different groups of mice were injected with vehicle or quantified saponins-rich fraction (4 mg/kg; i.p.), 30 min prior to an injection of N-methyl-D-aspartic acid (100 mg/kg; s.c.), bicuculline (5 mg/kg; i.p.), strychnine hydrochloride (2 mg/kg; i.p.), BAY k-8644 (37.5 µg; i.c.v.), veratridine (500 µg/kg; i.p.) and the convulsive episodes were studied. Treatment with the extract (1, 2 and 4 mg/kg) showed significant protection in maximal electroshock and pentylenetetrazol-induced convulsion tests, in a dose-dependent manner. Moreover, quantified saponins-rich fraction at 4 mg/kg dose showed significant increase in latency to clonic convulsions, decrease in seizure severity and increase in average wave amplitude in bicuculline, BAY k-8644 and veratridine tests, respectively, as compared to vehicle control. However, SRF treatment failed to abolish N-methyl-D-aspartic acid and strychnine-induced convulsions, indicated by insignificant change in the appearance of turning behavior and onset of tonic extension, respectively, as compared to vehicle control. From the results of present study, it is concluded that quantified saponins-rich fraction suppress maximal electroshock, pentylenetetrazol, bicuculline, BAY k-8644 and veratridine-induced convulsions, indicating its GABAergic, Na+ and Ca2+ channel modulatory effects. Further it can be correlated that quantified saponins-rich fraction causes deactivation of voltage-gated Na+ and Ca2+ channels, without effecting ligand-gated Na+ and Ca2+ channels. More studies are required at molecular levels using in vitro techniques to understand the exact molecular interactions of quantified saponins-rich fraction with these pathways.

Serum Phenobarbitone Levels in Term and Near-Term Neonates with Seizures.

Objective: To evaluate serum phenobarbitone levels in neonates with seizures and to evaluate the effect of repeated loading dose on serum phenobarbitone levels. Methods: In this prospective observational study conducted in a tertiary care centre of Northern India during 2011- 2012, 99 neonates admitted with seizureswere included.Serum phenobarbitone levels in neonates with seizures at 20 minutes and 12 hours after the first loading dose of phenobarbitone were measured. Results: Serum phenobarbitone levels [mean (SD)] at 20 min and 12 hours was 27.3 (28.4) µg/mL and 23 (19.1) µg/mL, respectively (P=0.07). The mean serum phenobarbitone levels 12 hours after the loading dose, and proportion of neonates with toxic levels increased with each loading dose of intravenous phenobarbitone. Conclusion: Monitoring of serum level of phonobarbitone may not be essential because seizure control in neonates appears to be independent of whether serum level is subtherapeutic, therapeutic or toxic range.

Isolated Nonsyndromic Hemimegalencephaly Presenting at Neonatal Age - A Case Report.

Hemimegalencephaly (HME) is a relatively rare sporadic brain malformation characterized by enlargement of one cerebral hemisphere. It has a variable presentation and may include partial seizures to epileptic encephalopathy, hemiparesis and psychomotor retardation. Epilepsy associated with HME is usually refractory to antiepileptic drugs and requires surgical intervention. Diagnosis of HME may be delayed in the absence of detailed examination and high index of suspicion giving rise to poor quality of life prior to surgery. We report, a case of a male neonate, with radiological features of HME picked up within seven days after birth. This was possible as antenatal ultrasonography was showing dilatation of the right lateral ventricle of the fetus. Baby had macrocephaly at birth and refractory convulsions from day two of life. Convulsions were managed successfully. Baby was discharged on necessary treatment and parents were given appropriate counseling. Careful examination and high index of suspicion can help in early diagnosis and better outcome. Our review of the literature did not yield any reports of patients with isolated non-syndromic HME presenting with refractory seizures as initial presentation in the neonatal age group. To our knowledge, this is the first report of its kind.