bluuebunny/crossref_metadata_2025_split huggingface dataset:
Schizencephaly and intractable epilepsy: an FDG-PET study
Authors: Govil-Dalela Tuhina , Kumar Ajay , Konka Praneetha , Chugani Harry T 
Published: December 2019

Background: To assess the role of 2-deoxy-2(18F)-fluoro-D-glucose positron emission tomography (FDG-PET) scans in the comprehensive evaluation and surgical decision-making in patients with schizencephaly. Methods: We evaluated 11 patients (8M) with schizencephaly (mean follow-up: 4.5 years), including detailed clinical, MRI, FDG-PET, EEG, surgical and neuropathology data. Results: Eight patients had unilateral and three had bilateral clefts on MRI. Mean age at seizure onset was 20 months, with seizure being frequent in 10 and rare in one. Multiple seizure types were noted, with complex partial seizures being the most common (n=8) followed by infantile spasms (n=6). FDG-PET showed larger area of involvement than MRI in all the patients which corresponded better with the electrophysiological changes. Five patients (with unilateral disease on MRI) underwent epilepsy surgery (4 hemispherectomy and 1 multilobar resection). Two patients with focal defect on MRI underwent hemispherectomy due to larger area of abnormality revealed by FDG-PET. One patient was excluded from the surgery due to bilateral abnormalities on FDG PET. Six patients (4 with surgery) were seizure-free at last follow-up (average seizure-free duration: 70 months). One patient who underwent hemispherectomy due to apparently unilateral disease on both video-EEG and MRI but having bilateral abnormality on PET continued to have seizures. ACTH treatment had only a brief (1 month to 1 year) or no response in the six infantile spasms patients. Conclusions: FDG-PET typically shows a much larger area of involvement than MRI thus supplementing MRI in defining the full extent of malformation and assessing the functional integrity of the contralateral hemisphere. FDG-PET may prove to be a useful tool to aid in surgical decision-making and predicting surgical outcome, as patients with contralateral abnormality on FDG-PET may have poor surgical outcomes. When the malformation is unilateral with an intact contralateral hemisphere, surgery (usually hemispherectomy) may be curative of the epilepsy.
Deletion at 2q24.3-31.1 resulting in severe Epileptic Encephalopathy and Episodic Autonomic Storming
Authors: Flynn Maureen A , Douglass Laurie , Rana Mandeep , Mian Asim , Milunsky Jeff M 
Published: December 2019

We describe an 11.5-year-old male who has profound intellectual disability, treatment resistant epilepsy with temperature sensitive seizures, and paroxysms of autonomic storming, atypical brain magnetic resonance imaging, and microcephaly. He has a 5.7 Mb deletion at 2q24.3-31.1, which includes the SCN1A gene. This is the first report of periodic and recurrent autonomic storming associated with Dravet syndrome, which is both prevented and treated with clonidine. Comparison to other reported individuals with the same deletion and genotype-phenotype correlations are discussed.
JICNA in its Second year
Authors: Newton Charles , Hameed Biju A 
Published: December 2019

The year 2017 represents the third year of the Journal of International Child Neurology Association (JICNA). In 2015 we assessed 9 papers and accepted 6 papers for publication. In 2016, we assessed 8 papers and accepted 7 papers for publication. To date we published 7 research papers, 5 review papers and 2 case reports. There have been considerable challenges in setting up a journal. These challenges include identifying reviewers who produce timely reviews, persuading people to submit research based papers, copy editing and issues with the software. We have sorted out the latter two issues. Papers are sent out to at least two reviewers, often one reviewer produces a time review, but chasing the other review is often time consuming, and review and thus publication. We would really encourage members of International Child Neurology Association (ICNA) to let us know if they would be willing to review papers in a timely manner and on what subjects they would be willing to review papers. We would like to invite members of ICNA to consider becoming section editors for the journal. This does involve a commitment, and we have suggested the following criteria:contribute at least two papers (one research and one review);review at least two papers within 2 weeks;be prepared to help people from low resource areas to analyse and write up their research;and have acknowledged expertise in the area of section (reference from another person in the field). This does represent considerable commitment in terms of time and energy. Please contact us if you would like to be and can commit to be a section editor.The JICNA is the journal of ICNA, and was set up with the following aims: i) to promote child neurology throughout the world, in particular encourage papers from low and middle income countries, who find it difficult to have their papers accepted by the more established journals; ii) to provide peer review scientifically sound papers on child neurology; iii) to be open access, so that papers can be accessed from anywhere in the world; iv) to be free as long as feasible, so to encourage papers from low and middle income countries. In order to achieve these goals it is important that members of ICNA contribute to making this a rigorous and vibrant journal. We encourage all members to contribute to this journal, by submitting papers (particularly research papers), reviewing papers in a timely manner and if they have the time and energy put themselves forward as a section editor.
Batten disease and parents: marital quality, support, and communication
Authors: Cozart Elizabeth J , Augustine Erika F , Mink Jonathan W , Thatcher Alyssa R , Adams Heather R 
Published: December 2019

Background: The neuronal ceroid lipofuscinoses, collectively known as Batten disease, are rare pediatric neurodegenerative disorders resulting in blindness, progressive motor impairment, dementia, and premature death. This study identified services and support accessed by parents of children with Batten disease and assessed parental marital quality. Methods: Parents completed a survey to identify services their affected children received, and their own uses of social support, information, and online resources. We used the Dyadic Adjustment Scale to evaluate parental marital quality. Results: 29 parents of 23 Batten-affected children completed the survey. 18 children (78%) received receiving in-home nursing or paraprofessional care. Over 90% of parents used the internet and social media to learn or talk about Batten disease; their preferred learning method was from other parents of children with Batten disease. Batten parent marital quality was significantly lower than that reported in studies of the general population or parents of children with chronic, but non-neurodegenerative, disease. Conclusions: Parents expressed an interest in and preference for parent-to-parent communication for support and information about Batten disease. Further work is needed to understand factors associated with the significantly lower marital quality among Batten parents.
Diagnosing neurodegeneration with brain iron accumulation before iron starts to accumulate
Authors: Hoogwijs Ine 
Published: December 2019

Introduction
Neurodegeneration with brain iron accumulation (NBIA) consists of a heterogeneous group of disorders with brain iron accumulation as common radiological endpoint. Mutations in multiple genes have been associated with NBIA. We present 2 cases with a different type of NBIA, in whom the diagnosis was confirmed before brain iron accumulation became evident on MRI.
Case description
The first patient was referred because of frequent falls at the age of 4 years. She had an ataxic gait and weak Achilles tendon reflexes. Two years later, pyramidal and more prominent cerebellar signs became evident. A skin and muscle biopsy revealed intra-axonal spheroids in the peri-and endomysial myelinated nerve bundles as well as in the motor endplates, which led to the diagnosis of PLA2G6-associated neurodegeneration (PLAN). Brain iron accumulation occurred at follow-up MRI at 9 years of age.
The second patient was referred because of developmental stagnation and detection of elevated liver enzymes at 3 months of age. Seizures started at 15 months of age, and were refractory to treatment with multiple anti-epileptic drugs. Molecular genetic testing using an epilepsy gene panel revealed a mutation in the WDR45 gene, a known cause of beta-propeller protein-associated neurodegeneration (BPAN). Brain MRI at 14 months of age showed diffuse hypomyelination in the absence of BIA.
Discussion
This report highlights that NBIA can be suspected on a clinical basis and confirmed by genetic testing before iron accumulation becomes present on brain MRI. Early diagnosis will provide a longer timeframe for potential disease modulating treatments in the future.
Acute childhood encephalopathy with prolonged fever, pleocytosis and elevated inflammatory cytokines in the cerebrospinal fluid and transient splenial lesion
Authors: Okada Rena , Sakaguchi Yuri , Matsushige Takeshi , Kamimaki Isamu , Takenouchi Toshiki , Takahashi Takao 
Published: December 2019

Background: Acute encephalopathy during childhood represents a highly heterogeneous group of infectious and non-infectious pathologies. According to a recent nationwide survey on acute childhood encephalopathy in Japan, the combination of clinical and radiographic features left approximately half of the affected children unclassified, mainly because of the lack of disease-specific biomarkers.
Case: Herein, we document a school-aged boy who manifested with acute encephalopathy that was characterized by a prolonged fever, altered mental status, urinary retention, and intention tremor lasting for more than a month. Accompanying features included syndrome of inappropriate secretion of antidiuretic hormone, pleocytosis with elevated interleukin-6 and interferon-gamma levels in the cerebrospinal fluid, and a transient splenial lesion on neuroimaging. No pathogens were identified, and C-reactive protein was negative throughout his clinical course. This constellation of clinical features was not compatible with any of the existing entities of acute pediatric encephalopathy.
Discussion: Our retrospective literature review identified two additional school-aged male patients who exhibited highly similar clinical courses. The prolonged altered mental status with pleocytosis in the cerebrospinal fluid and a transient splenial lesion in the absence of serum inflammatory markers suggest a primary central nervous system pathology.
Conclusion: This combination of features defines this presumably new group of acute childhood febrile encephalopathy with prolonged fever and ataxia in school-aged boys.
Pharmacists in the system of pediatric palliative care: international practice and prospects in Russia
Authors: Narkevich Igor A. , Nemyatykh Oksana D. , Medvedeva Daria M. 
Published: December 2019

Improvement of the palliative care system is one of the development priorities of health care system in Russia, as well as all around the world. This work represents the review of scientific literature dedicated to evaluation of the pharmaceutical staff as a member of interdisciplinary team providing palliative care for children.
The major improvement priorities of drug provision of children in need of palliative care, including the area of drugs range, inventory management, compounding pharmacies activity, pharmaceutical information and counseling, were set up on the basis of the comparative analysis of Russian and international pharmaceutical practices.
THE STUDY OF CLASSICS PARTICLES' ENERGY AT ARCHIMEDEAN SOLIDS WITH CLIFFORD ALGEBRA
Authors: ÇAKMAK Şadiye , KILIÇ Abidin 
Published: December 2019

Geometric
algebras known as a generalization of Grassmann algebras complex numbers and
quaternions are presented by Clifford (1878).
Geometric algebra describing the geometric symmetries of both physical
space and spacetime is a strong language for physics. Groups generated from
`Clifford numbers` are firstly defined by Lipschitz (1886). They are used for defining rotations in a
Euclidean space. In this work, Clifford algebra is identified. The energy of
classic particles with Clifford algebra are defined. This calculations are
applied to some Archimedean solids. Also, the vertices of Archimedean solids
presented in the Cartesian coordinates are calculated.
The study of correlation between vitamin D and tuberculosis in newly detected tuberculosis - pulmonary and extra pulmonary patients attending to K R hospital, Mysuru, Karnataka, India
Authors: Balgi Vandana , M. Sanjana J. , K. Suneetha D. , Surendran Amrudha , S. Chandrashekar G. 
Published: December 2019

Background: Tuberculosis is an infectious disease caused by Mycobacterium tuberculosis, which has posed a constant challenge to mankind in its treatment due to increasing resistance and longer duration of treatment. The newer approach is to look towards strengthening host immune system along with suppressing the organism. Aim of the study was to assess the existence of Vitamin D deficiency in TB patients and aid in the strategies and development of newer improvised approaches in the treatment of TB. Objectives of the study was to estimate vitamin D levels in Tuberculosis (pulmonary and extrapulmonary) patients, assess Correlation between vitamin D and pulmonary tuberculosis and to assess correlation between Vitamin D and extrapulmonary Tuberculosis.Methods: This is a descriptive cross-sectional study. The study consisted of 80 tuberculosis patients both extrapulmonary and pulmonary. Blood samples was analysed for Vitamin D levels and results were compared with age and sex matched controls. Results was analysed using SPSS software.Results: The cases included patient in the age group of 18-60 year with the mean age being 42.34±14.65 year. Of the 80 tuberculosis patients 42 were diagnosed with pulmonary tuberculosis and 38 constituted extrapulmonary tuberculosis. The mean Vitamin D in cases was 24.82±12.33 and controls was 34.41±6.19. Among the cases 25 (31.3%) subjects had Vitamin D levels <20 pg/ml and none of the controls had levels <20 pg/ml. The mean Vitamin D level in pulmonary Tb patients was found to be 24.29±11.86 pg/ml and Extra-pulmonary Tb was 25.40±12.96 pg/ml. The unpaired t-test was statistically significant with p value of 0.005.Conclusions: This study has emphasized on the presence of nutritional deficiency in TB patients and necessity to correct them to achieve a better cure rate.
Descriptive study on malignant otitis externa in diabetic patients at a tertiary care hospital at Madurandhagam
Authors: Thirumalaipriya V. , Madanagopal R. 
Published: December 2019

<p class="abstract"><strong>Background:</strong> Malignant otitis external (MOE) is a destructive infection, principally affecting ageing diabetic patients. The present study directed for analysing various forms of clinical presentations, causative organisms and management of such diseases.</p><p class="abstract"><strong>Methods:</strong> We conducted a descriptive study of patients with MOE in the ENT Department of Karpaga Vinayaga Institute of Medical College and Hospital, Madurandhagam. Haematological, biochemical and epidemiological parameters were taken and result analysis was carried out. </p><p class="abstract"><strong>Results:</strong> They affect both the soft tissue and bones of immunocompromised patient’s predominantly diabetic patients. Various forms of clinical presentations such as ear discharge which proved to be due to <em>Pseudomonas aeruginosa</em>. Facial nerve involvement, osteonecrosis and bony erosion was noted in MOE patient.</p><p class="abstract"><strong>Conclusions:</strong> MOE or external otitis progressing necrosis is a serious infection of the subject often older and diabetic by <em>P. aeruginosa</em>.</p>
Biofilm and Extended Spectrum Beta Lactamase Production amongst Uropathogenic Escherichia Coli Isolates at the University of Ilorin Teaching Hospital, Nigeria
Authors: Ohinoyi Amadu Dele , Nwabuisi Charles , Usman Yahaya , Olaide Mustapha Jelili , Nasir Abdullahi Idris , A Popoola Ademola 
Published: December 2019

Background and Aims: Uropathogenic Escherichia coli (UPEC) are considered major reservoir for genes encoding antimicrobial resistance. The mechanism of resistance and persistence of UPEC has been attributed to the production of biofilm and Extended Beta Lactamase (ESBL). This hospital-based prospective study determined how biofilm and ESBL production facilitate antibacterial resistance amongst UPEC isolated from catheter urine of patients attending the University of Ilorin Teaching Hospital, Nigeria. Materials and Methods: Urine samples from 113 catheterized inpatients and outpatients were analysed. Female subjects accounted for 47 (41.6%) of the study population. Standard microbiological methods and Analytical Profile Index (API) 20E were used for the isolation and identification of UPEC. Tissue culture plate technique was used to demonstrate biofilm production potentials and double-disc synergy test was used to determine ESBL production. Results: Catheter associated urinary tract infection in this study was 70.8% of samples analysed. Of this, Escherichia coli, 44 (55.0%) was the most predominant. UPEC, biofilm and ESBL production amounted to 38.9%, 81.8% and 27.2%, respectively. ESBL production was significantly associated with degree of biofilm formation (p<0.005). Both strong and moderate biofilm producers showed the same level of resistance to ceftazidime (31.6%). Moderate biofilm producers were 46.7% resistant to cefriaxone. Resistance to Amoxillin-clauvanate significantly occurred in all grades of biofilm producers (p>0.05). Imipenem, however, was the most sensitive with no resistance by the UPEC. Conclusions: ESBL and biofilm production were associated with antibacterial resistance. The incidence of ESBL production amongst biofilm forming UPEC is of great public health concern.
Predictors of Orthostatic Hypotension in the Elderly: Results from the Amirkola Health and Ageing Project (AHAP) Study
Authors: Safarpour Mehdi , Fotouhi Akbar , Hosseini Seyed Reza , Mohamadzade Masume , Bijani Ali 
Published: December 2019

Background: Orthostatic hypotension (OH) in the elderly is an important health challenge that poses a significant burden. We sought to determine the prevalence and correlates of OH in an elderly population-based study.
Methods: This study was conducted within the framework of the Amirkola Health and Ageing Project (AHAP) on 1,588 elderly individuals aged ≥60 years. The baseline measurement was performed from April 2011 to July 2012. The relationships between OH (dependent variable) and age, sex, diabetes, hypertension, and cognitive status (independent variables) were investigated by logistic regression.
Results: The mean age of the participants was 69.37±7.42 years (men: 69.96±7.68 y, women: 68.66±7.02 y). The prevalence of OH was 10.7%: 8.4% in the male and 13.7% in the female patients. In the final model, hypertension (OR=2.4, 95% CI: 1.6–3.7), diabetes (OR=1.3, 95% CI: 1.0–1.9), age (OR=2.9, 95% CI: 1.7–4.8), and female sex (female [OR=1.6, 95% CI: 1.1–2.3]) were significantly correlated with OH.
Conclusion: The prevalence of OH in our elderly subjects increased with age. Additionally, the older participants with diabetes and hypertension had a higher likelihood of having this OH.

J Teh Univ Heart Ctr 2019;14(4):165-170

This paper should be cited as: Safarpour M, Fotouhi A, Hosseini SR, Mohamadzade M, Bijani A. Predictors of Orthostatic Hypotension in the Elderly: Results from the Amirkola Health and Ageing Project (AHAP) Study. J Teh Univ Heart Ctr 2019;14(4): 165-170
A Rare Access Site Complication after Transcatheter Aortic Valve Implantation
Authors: Gocer Hakan , Abusharekh Mohammed , Ercan Ertugrul , Tengiz Istemihan 
Published: December 2019

In the majority of patients undergoing transcatheter aortic valve implantation, the transfemoral access is the suggested approach due to its less invasive nature and feasibility in patients with suitable vascular anatomy. The complications of the transfemoral access site are generally vascular; however, we herein present a rare case of colon perforation following the transfemoral procedure owing to prior abdominal surgery. A transfemoral aortic valve was inserted on account of severe aortic stenosis and a high probability of surgical mortality. The patient developed acute abdomen following the procedure. Hemicolectomy was performed because of colonic perforation caused by femoral catheterization. The patient was well at 3 months’ follow-up.

J Teh Univ Heart Ctr 2019;14(4):187-190

This paper should be cited as: Gocer H, Abusharekh M, Ercan E, Tengiz I. A Rare Access Site Complication after Transcatheter Aortic Valve Implantation. J Teh Univ Heart Ctr 2019;14(4):187-190.
Simultaneous Rupture of an Aortomitral Intervalvular Fibrosa Pseudoaneurysm to the Aorta and the Left Atrium
Authors: Mohseni-Badalabadi Reza , Hosseinsabet Ali , Mohseni-Badalabadi Mehdi , Forozannia Khalil 
Published: December 2019

A 55-year-old man was admitted to our surgical ward with a diagnosis of an aorto-left atrial fistula. The diagnosis of infectious endocarditis had been ruled out in another hospital before the patient was referred to our hospital through multiple blood cultures, examinations of inflammatory markers, and the absence of signs and symptoms of infection. He had a history of aortic and mitral valve replacement with mechanical bileaflet valves 3 years earlier and had been on hemodialysis for several years.
Physical examinations revealed a continuous murmur at the left parasternal border. Transthoracic and transesophageal echocardiographic examinations demonstrated mild left ventricular enlargement with a normal systolic function, a normal right ventricular size with systolic dysfunction, and normally functioning aortic and mitral prosthetic valves without any leakage or thrombosis. There was an echo-free space between the aortic and mitral valves that expanded in systole and decompressed in diastole with a connection to the left ventricular outflow tract, suggestive of the pseudoaneurysm of the aortomitral intervalvular fibrosa (AMIVF). This pseudoaneurysm was connected to the aorta on one side and to the left atrium on the other side, constituting a cavity between the ascending aorta and the left atrium that conducted a continuous flow from the aorta to the left atrium (Figure 1A and B; Video 1 and Video 2). Computed tomography angiography documented this space and its connection to the ascending aorta and the left atrium (Figure 2A, B, and C). It appears that surgical trauma was the most probable etiology of the pseudoaneurysm of the AMIVF in our patient. The patient refused surgical repair of this pseudoaneurysm.
The AMIVF is a zone between the anterior mitral leaflet and the non-coronary and left coronary aortic cusp that is fibrotic and vascular. These properties predispose it to injury due to infection and surgical trauma as the most common etiologies for the pseudoaneurysm of the AMIVF. The pseudoaneurysm of the AMIVF can be complicated by fistulation to the adjacent structures such as the left atrium the and aorta, which has been reported in about 20% of patients with the pseudoaneurysm of the AMIVF.1
On the follow-up of patients with aortic or mitral valve replacement or both, the presence of a pseudoaneurysm in the AMIVF as an uncommon complication of such valve replacements should be considered at the time of physical examinations and echocardiography.

J Teh Univ Heart Ctr 2019;14(4):195-197

This paper should be cited as: Mohseni-Badalabadi R, Hosseinsabet A, Mohseni-Badalabadi M, Forozannia K. Simultaneous Rupture of an Aortomitral Intervalvular Fibrosa Pseudoaneurysm to the Aorta and the Left Atrium. J Teh Univ Heart Ctr 2019;14(4):195-197.