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Chao-Ying Chen, Tonya L Rich, Jessica M Cassidy, Bernadette T Gillick
Transcranial magnetic stimulation (TMS) can be used as an assessment or intervention to evaluate or influence brain activity in children with hemiparetic cerebral palsy (CP) commonly caused by perinatal stroke. This communication report analyzed data from two clinical trials using TMS to assess corticospinal excitability in children and young adults with hemiparetic CP. The results of this communication revealed a higher probability of finding a motor evoked potential (MEP) on the non-lesioned hemisphere compared to the lesioned hemisphere (p = 0...
October 20, 2016: Brain Sciences
Henrieta Škovierová, Eva Vidomanová, Silvia Mahmood, Janka Sopková, Anna Drgová, Tatiana Červeňová, Erika Halašová, Ján Lehotský
Homocysteine (Hcy) is a sulfur-containing non-proteinogenic amino acid derived in methionine metabolism. The increased level of Hcy in plasma, hyperhomocysteinemia, is considered to be an independent risk factor for cardio and cerebrovascular diseases. However, it is still not clear if Hcy is a marker or a causative agent of diseases. More and more research data suggest that Hcy is an important indicator for overall health status. This review represents the current understanding of molecular mechanism of Hcy metabolism and its link to hyperhomocysteinemia-related pathologies in humans...
October 20, 2016: International Journal of Molecular Sciences
Marta Spodenkiewicz, Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle-Britschgi, Johannes Häberle
Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many organs; therefore, deficiency of glutamine due to a defect in GS is incompatible with normal life. Mutations in the human GLUL gene (encoding for GS) can cause an ultra-rare recessive inborn error of metabolism-congenital glutamine synthetase deficiency. This disease was reported until now in only three unrelated patients, all of whom suffered from neonatal onset severe epileptic encephalopathy...
October 19, 2016: Biology
Y D Pacheco, C Lorca-García, B Berenguer, E De Tomás
INTRODUCTION: Preaxial polydactyly is one of the most common congenital malformations of the hand. The treatment is surgical and should be done early, between 6 and 12 months old. The purpose of this paper is to review our experience in terms of casuistry, treatment and functional and aesthetic results of duplicity of thumb, since 2000 until today. MATERIAL AND METHODS: A retrospective study of patients with diagnosis of preaxial polydactyly from 2000 to january 2016 was performed...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
N Vicente, M Pérez, R Gander, A Segarra, C Leganés, J Bueno
AIM: Congenital portosistemic shunt (CPSS) is an uncommon condition that can cause serious complications such as encephalopathy and liver tumors at risk of malignant degeneration. Occlusion of the shunt by surgery or interventional radiology can prevent and even improve such complications. In some cases, liver transplantation is the only curative option. We describe our experience with this condition. PATIENTS AND METHODS: Between 1992 and 2013, eight children (four male and four female) were diagnosed with CPSS (four extrahepatic and four intrahepatic) in our center, of which seven were diagnosed after 2007...
January 15, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
Osman Güvenç, Ender Ödemiş, Murat Saygı, İbrahim Halil Demir
Major aortopulmonary collateral arteries are abnormal vascular structures that may be seen in cyanotic diseases that progress with reduced pulmonary flow. They occur rather rarely in the absence of cyanotic congenital heart disease. Presently described is the case of an infant who underwent patent ductus arteriosus (PDA) and major aortopulmonary collateral artery occlusion in a single session, without presence of cyanotic congenital heart disease. To the best of our knowledge, this is the first case of congenital aortopulmonary collateral artery to be reported in a symptomatic infant with PDA...
October 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Kemal Nişli, Serra Karaca, Ümrah Aydoğan
Axillary artery access for demanding interventions in newborns is rarely described, in spite of the many clear advantages. This access route in newborns with critical congenital heart disease is a real alternative to the more commonly used femoral or carotid artery routes. In brief, axillary access is an attractive alternative approach in newborns with complex heart diseases. It is advisable to stop an elective procedure if axillary access is not successful. Presently described is the use of axillary artery access for balloon angioplasty in a newborn with critical aortic coarctation...
October 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Kriti Mohan
BACKGROUND: Malaria is an important cause of death and illness in children worldwide. Most cases of neonatal malaria are misdiagnosed because of the lack of specific symptoms and a general lack of awareness. Nothing much is known in literature about the haematological changes during malaria infection and outcome of disease in neonates. Neonatal malaria is an underdiagnosed entity. So this hospital based observational study aims to assess diagnostic features of neonatal malaria. METHODS: From August 2004 to August 2013, information of all slide positive for malaria cases aged 0 to 28 days admitted to our pediatric hospital was collected and analysed...
October 20, 2016: Infectious Disorders Drug Targets
Patricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Aurora Martinez, Belén Pérez
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic strategy involving pharmacological chaperones (PC) to rescue PMM2 loss-of-function mutations. The present work describes the high-throughput screening, by differential scanning fluorimetry, of 10,000 low molecular weight compounds from a commercial library, to search for possible PCs for the enzyme PMM2...
October 24, 2016: Human Mutation
Ching Ming Liu, G Reed Holyoak, Chung Tien Lin
This study follows the treatment of six French bulldogs with paraparesis caused by congenital hemivertebra which were structurally mild but clinically severe. A standardized acupuncture ( zhēn jiǔ) treatment using Hua-Tuo-Jiaji (HTJJ) as local points and other distant points combined with Chinese herbs improved the clinical signs. Few, if any, published papers mention Traditional Chinese Veterinary Medicine (TCVM) for treatment of hemivertebral paraparesis in French bulldogs. Based on the rapid treatment outcome, we encourage practitioners to integrate this form of conservative management into emergency treatment...
October 2016: Journal of Traditional and Complementary Medicine
Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in six family members...
2016: Frontiers in Aging Neuroscience
Shafi Mussa, Nigel E Drury, John Stickley, Natasha E Khan, Timothy J Jones, David J Barron, William J Brawn
OBJECTIVES: Despite the challenges of surgical management of congenital heart disease, excellent outcomes are being achieved. Newly appointed congenital heart surgeons may have limited first operator experience for many complex conditions but are expected to achieve similar outcomes. A strategy of routine mentorship from more experienced surgeons may be the key to enabling new surgeons to become proficient while maintaining excellent outcomes for patients. METHODS: The arterial switch operation (ASO) is a technically demanding but relatively commonly performed, reproducible, and easily visualized neonatal procedure, making it valuable for mentoring newly appointed congenital heart surgeons...
October 23, 2016: European Journal of Cardio-thoracic Surgery
Alessandro Varrica, Mauro Lo Rito, Tommaso Generali, Angela Satriano, Veronica D'Oria, Erica Conforti, Francesca Pluchinotta, Massimo Chessa, Gianfranco Butera, Alessandro Frigiola, Mario Carminati, Alessandro Giamberti
No abstract text is available yet for this article.
October 25, 2016: EuroIntervention
Jonas F Ludvigsson, Benjamin Lebwohl, Anders Ekbom, Ravi Kiran, Peter Hr Green, Jonas Höijer, Olof Stephansson
BACKGROUND & AIMS: Endoscopy is an integral part of the investigation and management of gastrointestinal disease. We aimed to examine outcomes of pregnancies for women who underwent endoscopy during their pregnancy. METHODS: We performed a nationwide population-based cohort study, linking data from the Swedish Medical Birth Registry (for births from 1992 through 2011) with those from the Swedish Patient Registry. We identified 3052 pregnancies exposed to endoscopy (2025 upper endoscopies, 1109 lower endoscopies, 58 endoscopic retrograde cholangiopancreatographies)...
October 20, 2016: Gastroenterology
Ankana Daga, Fredrick Dapaah-Siakwan, Sharina Rajbhandari, Cassandra Arevalo, Agnes Salvador
BACKGROUND: Acute kidney injury (AKI) is common in critically ill premature infants. There is a lack of consensus on the diagnostic definition of AKI in very low birth weight (VLBW) infants. The primary aim of this study was to determine the incidence and risk factors for AKI in VLBW infants using the AKI network (AKIN) and pRIFLE (pediatric Risk, Injury, Failure, Loss, End-Stage) criteria and to evaluate whether Clinical Risk Index for Babies (CRIB II) score is a predictor of AKI. The secondary objective was to determine the extent of agreement between the AKIN and pRIFLE criteria in the diagnosis of AKI in VLBW infants...
September 28, 2016: Pediatrics and Neonatology
Alexandre Webster, Melina Schuh
Eggs and sperm develop through a specialized cell division called meiosis. During meiosis, the number of chromosomes is reduced by two sequential divisions in preparation for fertilization. In human female meiosis, chromosomes frequently segregate incorrectly, resulting in eggs with an abnormal number of chromosomes. When fertilized, these eggs give rise to aneuploid embryos that usually fail to develop. As women become older, errors in meiosis occur more frequently, resulting in increased risks of infertility, miscarriage, and congenital syndromes, such as Down's syndrome...
September 27, 2016: Trends in Cell Biology
Julie Jerber, Maha S Zaki, Jumana Y Al-Aama, Rasim Ozgur Rosti, Tawfeg Ben-Omran, Esra Dikoglu, Jennifer L Silhavy, Caner Caglar, Damir Musaev, Beate Albrecht, Kevin P Campbell, Tobias Willer, Mariam Almuriekhi, Ahmet Okay Çağlayan, Jiri Vajsar, Kaya Bilgüvar, Gonul Ogur, Rami Abou Jamra, Murat Günel, Joseph G Gleeson
Cobblestone lissencephaly (COB) is a severe brain malformation in which overmigration of neurons and glial cells into the arachnoid space results in the formation of cortical dysplasia. COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which are congenital muscular dystrophies associated with brain and eye anomalies and range from Walker-Warburg syndrome to Fukuyama congenital muscular dystrophy. Each of these conditions has been associated with alpha-dystroglycan defects or with mutations in genes encoding basement membrane components, which are known to interact with alpha-dystroglycan...
October 14, 2016: American Journal of Human Genetics
S Harikrishnan, G Sanjay, M Ashishkumar, Jaideep Menon, G Rajesh, R Krishna Kumar
BACKGROUND: Pulmonary hypertension (PH) is a disease associated with a high morbidity and mortality. There is paucity of data regarding PH from the developing countries including India. Idiopathic pulmonary arterial hypertension is the most important etiological factor in the western world, but PH secondary to rheumatic heart disease, chronic obstructive pulmonary disease and untreated congenital heart disease could well be the predominant causes in developing countries like India. The main objective of the PROKERALA study - Pulmonary hypertension Registry Of Kerala is to collect data regarding the etiology, practice patterns and one-year outcomes of patients diagnosed to have PH...
September 2016: Indian Heart Journal
Jagdish C Mohan, Madhu Shukla, Vishwas Mohan, Arvind Sethi
BACKGROUND: Congenital anomaly wherein the mitral valve leaflets are directly attached to the papillary muscle(s) (PM) with or without short under-developed chords is rarely reported in adults. Patients with two PMs with an intervening fibrous bridge have also been included under this head in previous studies. METHODS: Echocardiography enables accurate evaluation of the morphology and function of valve leaflets, chordae tendineae, and PM. This report describes a series of six patients aged 56-84 years who had abnormal mitral valve with a large solitary and anomalously inserted PM seen over a period of 3 years...
September 2016: Indian Heart Journal
Neeraj Awasthy, Ria Garg, S Radhakrishnan, Savitri Shrivastava
: Balloon aortic valvuloplasty (BAV) is a well accepted modality of treatment in congenital aortic stenosis in all age groups. Although in infants and children it is the modality of choice, in adolescents and young adults, it is of debatable efficacy. AIM: To evaluate long-term results of aortic valvuloplasty particularly in adolescent and adults (>12 years) and compare the outcome in other age groups that are <1 year and between 1 are 11 years. SETTING: Tertiary referral center...
September 2016: Indian Heart Journal
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