bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adult‐onset Rasmussen encephalitis associated with focal cortical dysplasia
Authors: Hohenbichler Katharina , Lelotte Julie , Lhommel Renaud , Tahry Riëm El , Vrielynck Pascal , Santos Susana Ferrao 
Published: August 2019

ABSTRACTRasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult‐onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult‐onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear.
Rufinamide for the treatment of Lennox‐Gastaut syndrome: evidence from clinical trials and clinical practice
Authors: Striano Pasquale , McMurray Rob , Santamarina Estevo , Falip Mercè 
Published: August 2019

ABSTRACTRufinamide was granted orphan drug status in 2004 for the adjunctive treatment of seizures associated with Lennox‐Gastaut syndrome in patients aged ≥4 years, and was subsequently approved for this indication in several countries, including Europe and the United States. Structurally unrelated to other antiepileptic drugs, rufinamide is thought to act primarily by prolonging the inactivation phase of voltage‐gated sodium channels. Rufinamide was approved on the basis of an international, randomised, placebo‐controlled Phase III trial, conducted in 138 patients with Lennox‐Gastaut syndrome, which demonstrated its favourable tolerability profile and efficacy in significantly reducing the frequency of drop attacks and total seizures, compared with placebo. The effectiveness and safety/tolerability of rufinamide in treating seizures associated with Lennox‐Gastaut syndrome have subsequently been confirmed in several other clinical trials and long‐term extension studies. These findings are supported by ‘real‐world’ data from a series of clinical practice studies conducted in Europe, the United States, and Korea. Rufinamide has been shown to be effective and generally well tolerated in children as young as one year and in adults. It is particularly effective as treatment for drop attacks and generalised tonic‐clonic seizures, and it has been suggested that it might be preferred over other antiepileptic drugs as a second‐line treatment for Lennox‐Gastaut syndrome when drop attacks are frequent. The most common side effects of rufinamide treatment include somnolence, headache, dizziness, nausea, vomiting, and fatigue. No new or unexpected safety signals have emerged following long‐term treatment with rufinamide, either in clinical trials or in clinical practice.
Facing the hidden wall in mesial extratemporal lobe epilepsy
Authors: Theys Tom , Decramer Thomas , Van Paesschen Wim , De Tiège Xavier , Minotti Lorella , von Lehe Marec , Chabardès Stephan , Kahane Philippe , Job Anne‐Sophie 
Published: August 2019

ABSTRACTRefractory extratemporal lobe epilepsy (ETLE) tends to have a less favourable surgical outcome in comparison to temporal lobe epilepsy. ETLE poses specific diagnostic and therapeutic challenges, particularly in cases where seizures develop from the midline. This review focuses on the diagnostic challenges and therapeutic strategies in mesial ETLE. The great diversity of interhemispheric functional areas and extensive connectivity to extramesial structures results in very heterogeneous seizure semiology. Specific signs, such as ictal body turning, can suggest a mesial onset. The hidden cortex of the mesial wall furthermore gives rise to specific diagnostic difficulties due to the low localizing value of scalp EEG. Advanced imaging, as well as targeted intracranial studies, can substantially contribute to depict the seizure onset zone since electroclinical findings are difficult to interpret in most cases. Surgical accessibility of the interhemispheric space can be challenging, both for the placement of subdural grids, as well as for resective surgery. When facing the hidden cortex on the mesial wall of the hemispheres, targeted intra‐ or extra‐operative intracranial recordings can lead to satisfactory outcomes in properly selected cases.
Clinical‐radiological‐pathological correlation in an unusual case of refractory epilepsy: a two‐year journey of whodunit!
Authors: Menon Deepak , Menon Ramshekhar N , Kesavadas Chandrasekharan , Mahadevan Anita , Radhakrishnan Ashalatha , Kannoth Sudheeran , Nair Pradeep P , Abraham Mathew , Thomas Bejoy , Thomas Sanjeev V 
Published: August 2019

ABSTRACTNew‐onset refractory focal epilepsy poses significant challenges to the clinician in the absence of specific diagnostic biomarkers. Differential diagnoses based on imaging may be expanded by a veritable spectrum of peri‐ictal imaging findings that may mask the underlying substrate. We report a 13‐year‐old girl who presented with refractory focal seizures of left parieto‐occipital origin with cytotoxic gyral oedema noted over the same region on imaging. Despite an initial negative autoantibody profile, the patient was treated with immunosuppression, followed by serial relapses requiring immune‐modulation. Over the next year, her syndrome persisted as focal left posterior cortex epilepsy that necessitated occipital lobectomy, following a relapsing‐remitting radiological profile, consistent with peri‐ictal MRI changes. Histopathology was inconclusive for any definitive substrate. After a period of quiescence, she developed focal motor seizures of right hemispheric origin with progressive encephalopathy, at which point a repeat cerebrospinal fluid anti‐N‐methyl‐D‐aspartate receptor antibody profile returned positive. The patient was managed with steroids and rituximab with a good clinical outcome. We hypothesise that persistent or relapsing‐remitting focal gyral oedema in unexplained refractory focal epilepsy mandates consideration of focal encephalitis secondary to autoimmunity, and late appearance of intrathecal auto‐antibody synthesis correlates with evolution into a more diffuse disease.
Unilateral abdominal clonic seizures of parietal lobe origin: EEG findings
Authors: Aljaafari Danah , Nascimento Fábio A. , Abraham Alon , Andrade Danielle M. , Wennberg Richard A. 
Published: August 2019

ABSTRACTUnilateral abdominal clonic seizures represent a peculiar and rare manifestation of focal onset epilepsy. We present the case of a 26‐year‐old man with right‐sided abdominal clonic movements associated with seizures arising from the left parietal area. We show the ictal EEG correlates of these events, including source localization of early ictal spikes; findings that have not been demonstrated in previously reported cases. The electro‐clinical features in this patient suggested that clinical onset occurred after anterior propagation of ictal activity from a region posterior to the neck and trunk area of the sensory homunculus of the postcentral gyrus. [Published with video sequence onwww.epilepticdisorders.com].
Early‐onset epileptic encephalopathy with myoclonic seizures related to 9q33.3‐q34.11 deletion involving STXBP1 and SPTAN1 genes
Authors: Aravindhan Akilandeswari , Shah Kinal , Pak Jayoung , Veerapandiyan Aravindhan 
Published: August 2019

ABSTRACTWe describe a 10‐month‐old boy with early‐onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3‐q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low‐amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum. This patient is the second reported case with 9q33.3‐q34.11 deletion involving STXBP1 and SPTAN1 genes associated with epileptic encephalopathy and myoclonic seizures. Larger case series are needed to better delineate this association.
Epileptic seizure semiology in different age groups
Authors: Fernandez‐Baca Vaca Guadalupe , Mayor Carlos L. , Losarcos Naira García , Park Jun T. , Lüders Hans O. 
Published: August 2019

ABSTRACTAims. Seizure semiology provides information about the eloquent cortex involved during a seizure and helps to generate a hypothesis regarding the localization of the epileptogenic zone (EZ), a prerequisite for surgical management of epilepsy. We aimed to study the seizure semiology among all different age groups to better characterize semiological changes that occur with age.Methods. We performed a retrospective review of video‐EEG data in paediatric and adult patients admitted to the Epilepsy Monitoring Unit over a three‐year period. Authors independently reviewed and classified the seizure semiology while blinded to clinical, EEG, and neuroimaging data. A total of 270 patients were included in the study.Results. The most frequent EZ in patients who were one month to three years old was undetermined. Focal epilepsy became more frequent in patients older than 10 years. Among patients with focal epilepsy, a posterior quadrant EZ was most frequent in children younger than three years old, a temporal EZ between three and six years old, and a frontal EZ between six and 10 years old. The temporal lobe was the most frequent location for focal EZ in patients older than 18 years. Auras, automotor seizures, and generalized tonic‐clonic seizures were extremely infrequent in patients younger than 10 years old. The youngest patient with auras was 5.7 years old. The youngest patient with automotor seizures was 3.7 years old. We identified only three patients with generalized tonic‐clonic seizures who were younger than 10 years (aged six months, 6.6 years, and nine years, respectively). Patients younger than three years exhibited mostly generalized simple motor seizures and hypomotor seizures. Generalized epileptic spasms, generalized tonic seizures, and generalized clonic seizures were infrequent in patients older than 10 years.Conclusion. Seizure semiology and electroencephalographic changes most likely reflect the maturation of cortical functions.
GAD65 antibody‐associated autoimmune epilepsy with unique independent bitemporal‐onset ictal asystole
Authors: D'Souza Caitlin E. , Feyissa Anteneh M. 
Published: August 2019

ABSTRACTAntibodies against the 65‐kDa isoform of the intracellular enzyme, glutamate decarboxylase (GAD65), have been found in patients with limbic encephalitis and drug‐resistant autoimmune epilepsy. We report a 22‐year‐old female who presented with new‐onset seizures and neuropsychiatric symptoms. Video‐EEG captured unique, independent bitemporal‐onset focal seizures with impaired awareness and ictal asystole. An autoimmune epilepsy panel revealed elevated GAD65 antibodies in the serum (225 nmol/l) and CSF (2.78 nmol/l), while [18F]‐fluoro‐deoxy‐glucose positron emission tomography showed bitemporal hypometabolism (left > right). The patient was diagnosed with GAD65 antibody‐associated autoimmune epilepsy. Our observation adds to the spectrum of neurocardiac syndromes associated with autoimmune epilepsy.
Patient satisfaction with epilepsy surgery: what is important to patients
Authors: Lunney Meaghan , Wahby Sandra , Sauro Khara M. , Atkinson Mark J. , Josephson Colin B. , Girgis Fady , Singh Shaily , Patten Scott B. , Jetté Nathalie , Sajobi Tolulope T. , Hader Walter , Wiebe Samuel 
Published: August 2019

ABSTRACTAims. Patient satisfaction with therapeutic interventions is an important outcome of care. Although generic measures of patient satisfaction exist, there is no validated scale for measuring patient satisfaction with epilepsy surgery. We aimed to systematically obtain patient‐identified factors related to satisfaction with epilepsy surgery as a means of informing clinicians about the ways that patients evaluate outcomes of their treatment and as a conceptual basis for the future development of epilepsy surgery patient satisfaction scales.Methods. Focus group discussions with epilepsy surgery patients (n=9) were conducted to identify themes relevant to patient satisfaction with epilepsy surgery and to draft initial items of importance. Consensus methodology (Delphi technique) was used to obtain expert opinion (n=13) to refine the items. Member‐checking with focus group participants was performed to ensure the identified items were relevant, clear, and inclusive.Results. A list of 31 items embodied 12 themes related to patient‐reported satisfaction with epilepsy surgery. These included adverse effects, medical care or rehabilitation, seizure control, post‐operative recovery, anti‐seizure medication, independence, seizure worry, ability to drive, social relationships, self‐confidence, improved cognitive function, and improved physical health.Conclusions. This study used a systematic approach to identify factors that are important to patients when assessing satisfaction with epilepsy surgery. This knowledge can assist clinicians caring for these patients and is also a critical step towards the validation of a formal scale to assess satisfaction with epilepsy surgery.
Diaper changing‐induced reflex seizures in CDKL5‐related epilepsy
Authors: Solazzi Roberta , Fiorini Elena , Parrini Elena , Darra Francesca , Bernardina Bernardo Dalla , Cantalupo Gaetano 
Published: August 2019

ABSTRACTMutations in the CDKL5 (cyclin‐dependent kinase‐like‐5) gene are known to determine early‐onset drug resistant epilepsies and severe cognitive impairment with absent language, hand stereotypies, and deceleration of head growth. Reflex seizures are epileptic events triggered by specific stimuli and diaper changing is a very rare triggering event, previously described in individual cases of both focal and unclassified epilepsy, as well as in Dravet syndrome. Our aim was to describe diaper changing‐induced reflex seizures as one of the presenting features in a case of CDKL5‐related epilepsy, providing video‐EEG documentation and focusing discussion on hyperexcitability determined by the disease. [Published with video sequence on www.epilepticdisorders.com]
KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures
Authors: Freibauer Alexander , Jones Kevin 
Published: August 2019

ABSTRACTA male neonate presented with seizures at 18 hours of life, characterized by tonic posturing with eye deviation to the right, apnoea, bradycardia, and oxygen desaturation. Initial structural, metabolic, and infectious work‐up was unremarkable. He continued to have seizures refractory to a variety of antiepileptic medications. A phenobarbital coma was trialled, leading to cessation of clinical seizures but continuation of electrographic status epilepticus. On EEG, ictal discharges originated from both the right and left hemispheres, migrating to the opposite hemisphere, consistent with encephalopathy of infancy with migrating focal seizures. At this time, he developed septic shock and was trialled on a ketamine infusion and ketogenic diet. Due to his poor prognosis, a goals of care discussion was carried out with the family, leading to withdrawal of care and his subsequent death at one month and seven days. A posthumous genetic panel revealed a de novo KCNQ2 p.Ser247Leu variant, considered likely to be pathogenic. This is the third reported case of a KCNQ2 mutation associated with an encephalopathy of infancy with migrating focal seizures phenotype. We discuss potential cellular mechanisms underlying this unique KCNQ2 phenotype, as well as future therapeutic considerations.
Improved decision‐making and psychophysiological responses in mesial temporal lobe epilepsy after anterior temporal lobectomy
Authors: Sandor Serra , Delil Şakir , Yağcı Selin , Korkmaz Bektaş , Yeni S. Naz 
Published: August 2019

ABSTRACTAim. The somatic marker hypothesis is an influential model of human decision‐making postulating that somatic feedback to the brain enhances decision‐making in ambiguous circumstances, i.e. when the probabilities of various outcomes are unknown. The somatic feedback can be measured as autonomic responses, which are regulated by the amygdala. The failure to evoke this somatic feedback, which occurs in patients with amygdala lesions, impairs decision‐making. The purpose of this study was to investigate the decision‐making behaviour of mesial temporal lobe epilepsy patients with pre‐ and post‐epilepsy surgery to ascertain whether the decision‐making abilities of groups can be explained by means of the generation of somatic feedback responses.Methods. The preoperative group comprised 32 patients with mesial temporal lobe epilepsy due to hippocampal sclerosis, while the postoperative group comprised 23 patients who had undergone anterior temporal lobectomy. The age and gender‐matched control group consisted of 30 healthy participants. Decision‐making performances were assessed and skin resistance responses were measured simultaneously.Results. The findings of this study reveal that the decision‐making performance of preoperative patients with unilateral mesial temporal lobe epilepsy was impaired under conditions of ambiguity, i.e. they did not generate somatic feedback responses before making decisions around ambiguous outcomes, and produced significantly poor scores overall based on a decision‐making task. In addition, the resection of epileptogenic limbic structures positively affected the generation of somatic feedback responses, as demonstrated by the significant difference between the magnitudes of autonomic responses of the pre‐ and post‐operative groups.Conclusions. The findings of the study validate the contribution of mesial temporal lobe structures to decision‐making behaviour, and also point to the importance of examining the connectivity patterns between the neural structures involved in the decision‐making network.
Impacto da capacidade funcional na mortalidade seis meses após alta em idosos internados em UTI
Authors: Da Rocha Julio David Nascimento , Gaspar Ludmilla Campos , Gomes Yasmin Silva , Dos Santos Marilúcia Reis , Santos Gilmara , Dos Anjos Jorge Luis Motta 
Published: August 2019

INTRODUÇÃO: O envelhecimento é um processo natural de redução progressiva da reserva funcional dos indivíduos e o fator que determina saúde dos idosos é a independência nas suas atividades habituais, que consiste em sua funcionalidade e quando acometidos por alguma enfermidade tendem a ter uma recuperação mais lenta, em comparação aos pacientes jovens, devido ao declínio funcional inerente ao processo de senescência, o que pode resultar em maior risco de morte. OBJETIVO: Avaliar o impacto da capacidade funcional na mortalidade de idosos após seis meses de alta da Unidade de Terapia Intensiva. MÉTODOS: Trata-se de um estudo de coorte, ambispectivo, realizado em uma Unidade de Terapia Intensiva de um hospital público de grande porte, localizado na cidade de Salvador, Bahia em 2018. A amostra foi composta por pacientes idosos admitidos na UTI, com idade igual ou superior a 60 anos, onde foram aplicadas as Escalas de Mobilidade em UTI (EMU) e Estado Funcional (FSS) para avaliar a capacidade funcional no dia da alta da UTI e através de contato telefônico, foi observado a ocorrência de óbito após 6 meses da alta. Foram excluídos pacientes com instabilidade hemodinâmica, desordens congnitivas. e aqueles onde houve impossibilidade de contato telefônico. Para análise estatística dos dados de variáveis contínuas foram avaliados com medidas de tendência central e dispersão, variáveis categóricas avaliadas com medidas de frequência e para relacionar a capacidade funcional e mortalidade foi utilizado o teste não paramétrico de Mann-Whitney com o uso do software SPSS. RESULTADOS: A amostra foi composta por 30 pacientes, sendo a maior parte composta por indivíduos do sexo masculino (60,0%), com média de idade 68,0(±6,7) anos, com perfil diagnóstico predominantemente clínico (70,0%), média de tempo de internamento de 3,2 (±1,8) dias, capacidade funcional aferida pela escala do estado funcional (FSS) da alta de 29,3(±8,5) e pela escala de mobilidade em UTI (EMU) da alta de 8,8 (± 2,6) . Dos pacientes inicialmente avaliados, 08 (21,1%) foram excluídos por impossibilidade de contato por telefônico após a alta, tendo completado o estudo com 30 pacientes, destes 11 (28,9%), evoluíram a óbito em até seis meses após a alta da UTI. Um dado que chama atenção é a taxa de mortalidade nos pacientes estudados, que chegou a 36,6% CONCLUSÃO: O status funcional, de pacientes idosos, no momento da alta da UTI está relacionado com uma maior taxa de mortalidade em seis meses após a alta da unidade de terapia intensiva.
Chondroid metaplasia: a rare subtype of metaplastic breast carcinoma
Authors: DEMİRLİ ATICI Semra , SALİMOĞLU Semra , KIRMIZI Yasemin , KUZUKIRAN Dilek , AYDIN Cengiz 
Published: August 2019

Metaplastic breast carcinoma (MBC)
is a subtype of breast malignant lesions which is very rare seen. Clinically,
MBC is more aggressive and has worse prognosis than other subtypes of breast
cancers. A 61-year-old female patient who had a rapidly enlarging and palpabl mass on the left breast applied. Core biopsy
was performed and pathology was reported as invasive ductal carcinoma. The patient who had
been diagnosed with breast cancer was operated
and postoperative course was unremarkable. She was discharged postoperative
third day with no complication. Postoperative specimen pathology was reported as a rare
type of breast metaplastic carcinoma
which was chondroid metaplasia. Here we aimed to report, a case of chondroid
metaplasia which is a rare type of metaplastic breast carcinoma with the
literature.
PENINGKATAN HASIL BELAJAR PADA MATERI PETA DENGAN MODEL PEMBELAJARAN NUMBERED HEADS TOGETHER SISWA KELAS VII - B DI SMP N 1 SUMBERPUCUNG KABUPATEN MALANG
Authors: Putra Aris 
Published: August 2019

Berdasarkan observasi yang dilakukan di SMP Negeri 1 Sumberpucung Kelas VII-B, diketahui bahwa pelaksanaan pembelajaran Geografi sebagian besar masih menggunakan metode konvensional. Siswa tidak dibebaskan untuk belajar sesuai dengan minatnya sehingga belajar menjadi membosankan kebanyakan siswa hanya duduk, diam, mendengarkan, mencatat serta sibuk dengan pekerjaannya yang lain. Hal tersebut sangat berpengaruh pada hasil belajar siswa. Oleh karena itu, Numbered-Heads Togther mengajak siswa untuk menemukan gaya belajarnya dan mendapatkan pengalaman baru dalam belajar sehingga akan terjadi interaksi antar siswa. Penelitian ini menggunakan Penelitian Tindakan Kelas (PTK) yang dilaksanakan dalam 2 siklus. Siklus I membahas mengenai materi tentang peta umum yaitu peta yang berisi berbagai kenampakan secara umum misalnya peta dunia. Sedangkan siklus II membahas materi Atlas dan globe. Penelitian ini menggunakan pendekatan kualitatif dengan jenis Penelitian Tindakan Kelas (PTK) yang terdiri dari 2 siklus. Setiap siklus terdiri dari perencanaan, pelaksanaan, observasi dan refleksi. Tujuan penelitian ini yaitu untuk Mendeskripsikan peningkatan hasil belajar pada materi peta dengan model pembelajaran numbered Heads Together (NHT) Siswa kelas VII- B di SMPN 1 Sumberpucung Kabupaten Malang Penelitian dilaksanakan pada semester genap tahun pelajaran 2013/2014 di kelas VII-B SMP Negeri 1 Sumberpucung. Subjek dalam penelitian ini berjumlah 38 siswa yang terdiri dari 18 siswa laki-laki dan 20 siswa perempuan. Dalam hal ini, peneliti menerapkan model pembelajaran Numbered-Heads Together untuk meningkatkan hasil belajar siswa kelas VII-B SMP Negeri 1 Sumberpucung. Model pembelajaran Numbered-Heads Together terdiri dari 4 tahap dengan langkah-langkah sebagai berikut ; 1.Tahap penomoran,2.Tahap pengajuan Pertayaan,3.Tahap Berfikir,4. Berdasarkan penelitian ini dapat disimpulkan bahwa penerapan pembelajaran dengan menggunakan model pembelajaran Numbered-Heads Together dapat meningkatkan hasil belajar pada mata pelajaran Geografi siswa kelas VII-B SMP Negeri 1 Sumberpucung