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https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#1
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28592488/dna-damage-induced-atr-kinase-activation-in-non-replicating-cells-is-regulated-by-the-xpb-subunit-of-transcription-factor-ii-h-tfiih
#2
Michael G Kemp
The role of the DNA damage response protein kinase ataxia telangiectasia and Rad-3-related (ATR) in the cellular response to DNA damage during the replicative phase of the cell cycle has been extensively studied. However, little is known about ATR kinase function in cells that are not actively replicating DNA and which constitute most cells in the human body. Using small-molecule inhibitors of ATR kinase and overexpression of a kinase-inactive form of the enzyme, I show here that ATR promotes cell death in non-replicating/non-cycling cultured human cells exposed to N-acetoxy-2-acetylaminofluorene (NA-AAF), which generates bulky DNA adducts that block RNA polymerase movement...
June 7, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28584914/optical-coherence-tomography-for-the-diagnosis-and-monitoring-of-idiopathic-intracranial-hypertension
#3
Philipp Albrecht, Christine Blasberg, Marius Ringelstein, Ann-Kristin Müller, David Finis, Rainer Guthoff, Ella-Maria Kadas, Wolf Lagreze, Orhan Aktas, Hans-Peter Hartung, Friedemann Paul, Alexander U Brandt, Axel Methner
The objectives of the study were to investigate the value of optical coherence tomography in detecting papilledema in patients with idiopathic intracranial hypertension (IIH), a disease which is difficult to monitor and which can lead to permanent visual deficits; to analyze retinal changes over time. In this non-interventional case-control study, spectral-domain optical coherence tomography (SD-OCT) was used to analyze the retinal and optic nerve head (ONH) morphology of 21 patients with IIH and 27 age- and sex-matched healthy controls over time...
June 5, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28560487/effect-of-venous-stenting-on-intracranial-pressure-in-idiopathic-intracranial-hypertension
#4
Samir A Matloob, Ahmed K Toma, Simon D Thompson, Chee L Gan, Fergus Robertson, Lewis Thorne, Laurence D Watkins
BACKGROUND: Idiopathic intracranial hypertension (IIH) is characterised by an increased intracranial pressure (ICP) in the absence of any central nervous system disease or structural abnormality and by normal CSF composition. Management becomes complicated once surgical intervention is required. Venous sinus stenosis has been suggested as a possible aetiology for IIH. Venous sinus stenting has emerged as a possible interventional option. Evidence for venous sinus stenting is based on elimination of the venous pressure gradient and clinical response...
May 31, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28536838/outcomes-of-ventriculoperitoneal-shunt-insertion-in-the-management-of-idiopathic-intracranial-hypertension-in-children
#5
J Heyman, Ronak Ved, A Amato-Watkins, I Bhatti, J Te Water Naude, F Gibbon, P Leach
PURPOSE: The ventriculoperitoneal (VP) shunt has become the procedure of choice for treatment of idiopathic intracranial hypertension (IIH). We aimed to assess the efficacy of frameless stereotactic placement of VP shunts for the management of medically resistant IIH in children and to assess the role of gender and obesity in the aetiology of the condition. METHODS: This is a retrospective analysis of the case notes of 10 patients treated surgically at the University Hospital of Wales in Cardiff, from May 2006 to September 2012...
May 23, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28534259/the-efficacy-of-orbital-ultrasonography-and-magnetic-resonance-imaging-findings-with-direct-measurement-of-intracranial-pressure-in-distinguishing-papilledema-from-pseudopapilledema
#6
Zeynep Ozturk, Tuba Atalay, Ebru Arhan, Kursad Aydin, Ayse Serdaroglu, Tugba Hirfanoglu, Cengiz Havali, Yilmaz Akbas, Duygu Yalinbas
INTRODUCTION: The goal of this study was to evaluate the utility of orbital ultrasonography and magnetic resonance imaging in the diagnosis of idiopathic intracranial hypertension (IIH). METHOD: We reviewed the medical records of patients referred to our department for suspected IIH. RESULTS: Seven children were diagnosed with IIH. Nine children revealed pseudopapilledema by optic coherence tomography and/or orbital ultrasonography. When the axial sequences were reexamined, patients with papilledema had optic nerve sheath (ONS) enlargement (6...
May 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28527079/endolymphatic-hydrops-in-idiopathic-intracranial-hypertension-prevalence-and-clinical-outcome-after-lumbar-puncture-preliminary-data
#7
Angelo Ranieri, Michele Cavaliere, Stefania Sicignano, Pietro Falco, Federico Cautiero, Roberto De Simone
Idiopathic intracranial hypertension is characterized by raised intracranial pressure (ICP) without any underlying pathology, presenting with (IIH) or without papilledema (IIHWOP). Headache, often on daily basis, is the most frequent symptom. Among audiovestibular symptoms, tinnitus and dizziness are commonly reported, while vertigo and hearing impairment are infrequent reports. Endolymphatic hydrops (ELH) is the typical histopathologic feature of Ménière disease, a condition featured by episodes of vertigo, dizziness, fluctuating hearing loss, tinnitus, and aural fullness...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28523220/cardiovascular-risk-factors-in-chiari-malformation-and-idiopathic-intracranial-hypertension
#8
Radek Frič, Are Hugo Pripp, Per Kristian Eide
OBJECTIVES: Both Chiari malformation type 1 (CMI, i.e., the idiopathic caudal ectopy of cerebellar tonsils into foramen magnum) and idiopathic intracranial hypertension (IIH) are characterized by reduced intracranial compliance (ICC) due to disturbed circulation of cerebrospinal fluid (CSF). An increasing body of evidence links cardiovascular disease to CSF circulation disturbances. The aim of this study was to explore whether the prevalence of cardiovascular risk factors in patients with CMI or IIH is higher than in the general population...
May 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28521183/predictors-of-poor-visual-outcome-in-patients-with-idiopathic-intracranial-hypertension-iih-an-ambispective-cohort-study
#9
Amit Agarwal, Deepti Vibha, Kameshwar Prasad, Rohit Bhatia, Mamta Bhushan Singh, Ajay Garg, Rohit Saxena
OBJECTIVE: Idiopathic intracranial hypertension (IIH) is a disease of young with threat to vision if not diagnosed timely. This study looked at the putative predictors of poor visual outcome in patients with IIH at six months after presentation via a cohort study. PATIENTS AND METHODS: All patients diagnosed with IIH from January 2011 to May 2015 were enrolled. The study design was ambispective cohort study. The baseline clinical and radiological characteristics assessed were age, sex, body mass index (BMI), duration of symptoms, transient visual obscuration, cranial nerve palsy, diminution of vision, Cerebrospinal fluid (CSF) opening pressure, empty sella, optic nerve dilatation, global configuration and transverse sinus stenosis...
May 10, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28491476/increased-intracranial-pressure-in-the-setting-of-enterovirus-and-other-viral-meningitides
#10
Jules C Beal
Increased intracranial pressure due to viral meningitis has not been widely discussed in the literature, although associations with Varicella and rarely Enterovirus have been described. Patients with increased intracranial pressure and cerebrospinal fluid analysis suggestive of a viral process are sometimes classified as having atypical idiopathic intracranial hypertension (IIH). However, a diagnosis of IIH requires normal cerebrospinal fluid, and therefore in these cases an infection with secondary intracranial hypertension may be a more likely diagnosis...
2017: Neurology Research International
https://www.readbyqxmd.com/read/28487359/venous-sinus-stenting-shortens-the-duration-of-medical-therapy-for-increased-intracranial-pressure-secondary-to-venous-sinus-stenosis
#11
Tarek A Shazly, Ashutosh P Jadhav, Amin Aghaebrahim, Andrew F Ducruet, Brian T Jankowitz, Tudor G Jovin, Gabrielle R Bonhomme
INTRODUCTION: Medical treatment, cerebrospinal fluid (CSF) shunting, and optic nerve sheath fenestration are standard treatments for increased intracranial pressure (ICP) in patients with idiopathic intracranial hypertension (IIH). Venous sinus stenting provides a novel alternative surgical treatment in cases of venous sinus stenosis with elevated ICP. METHODS: 12 consecutive subjects with papilledema, increased ICP, and radiological signs of dural sinus stenosis underwent cerebral venography and manometry...
May 9, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28478865/synthesis-and-biological-activity-of-new-phthalimides-as-potential-anti-inflammatory-agents
#12
Duc-Hiep Bach, Jian-Yu Liu, Won Kyung Kim, Ji-Young Hong, So Hyun Park, Donghwa Kim, Si-Ning Qin, Thi-Thu-Trang Luu, Hyen Joo Park, Yong-Nan Xu, Sang Kook Lee
The overproduction of nitric oxide (NO) plays an important role in a variety of pathophysiological processes, including inflammation. Therefore, the suppression of NO production is a promising target in the design of anti-inflammatory agents. In the present study, a series of phthalimide analogs was synthesized, and their anti-inflammatory activities were evaluated using lipopolysaccharide (LPS)-stimulated NO production in cultured murine macrophage RAW264.7 cells. A structure-activity relationship study showed that the free hydroxyl group at C-4 and C-6 and the bulkiness of the N-substituted alkyl chain are associated with biological activity...
July 1, 2017: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/28470390/biallelic-mutations-in-cyp24a1-or-slc34a1-as-a-cause-of-infantile-idiopathic-hypercalcemia-iih-with-vitamin-d-hypersensitivity-molecular-study-of-11-historical-iih-cases
#13
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit...
May 3, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28467824/core-mediator-structure-at-3-4-%C3%A3-extends-model-of-transcription-initiation-complex
#14
Kayo Nozawa, Thomas R Schneider, Patrick Cramer
Mediator is a multiprotein co-activator that binds the transcription pre-initiation complex (PIC) and regulates RNA polymerase (Pol) II. The Mediator head and middle modules form the essential core Mediator (cMed), whereas the tail and kinase modules play regulatory roles. The architecture of Mediator and its position on the PIC are known, but atomic details are limited to Mediator subcomplexes. Here we report the crystal structure of the 15-subunit cMed from Schizosaccharomyces pombe at 3.4 Å resolution...
May 11, 2017: Nature
https://www.readbyqxmd.com/read/28443817/childhood-sustained-hypercalcemia-a-diagnostic-challenge
#15
Nisa Eda Çullas İlarslan, Zeynep Şıklar, Merih Berberoğlu
OBJECTIVE: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention. METHODS: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. RESULTS: Twenty patients (11 male, 9 female) with a median age of 6,25 (0,03-17,88) years were evaluated...
April 26, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28435117/use-of-intracranial-pressure-monitoring-frequently-refutes-diagnosis-of-idiopathic-intracranial-hypertension
#16
David S Xu, Randall J Hlubek, Celene B Mulholland, Kerry L Knievel, Kris A Smith, Peter Nakaji
OBJECTIVE: The diagnosis and management of patients with idiopathic intracranial hypertension (IIH) frequently relies on lumbar puncture to ascertain intracranial pressures. However, pressures derived this way may be spurious due to patient body habitus and behavior. We recently incorporated direct continuous intracranial pressure (ICP) monitoring into the work-up for IIH and review our experience and outcomes. METHODS: Through billing records, we identified all patients during a 3-year period who had a diagnosis of idiopathic intracranial hypertension and who underwent ICP monitoring prior to shunt placement or revision...
April 20, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28431144/effect-of-body-mass-index-on-venous-sinus-pressures-in-idiopathic-intracranial-hypertension-patients-before-and-after-endovascular-stenting
#17
Daniel M S Raper, Dale Ding, Thomas J Buell, R Webster Crowley, Robert M Starke, Kenneth C Liu
BACKGROUND: Elevated body mass index (BMI) has been correlated with worse outcomes after treatment for idiopathic intracranial hypertension (IIH). Venous sinus stenting (VSS) has emerged as a safe and effective treatment for a subset of patients with IIH and evidence of venous sinus stenosis. However, the association between BMI and the efficacy of VSS remains poorly characterized. OBJECTIVE: To determine, in a retrospective cohort study, the effect of BMI on preoperative mean intracranial venous pressure (MVP) and post-VSS outcomes...
April 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28383199/outcomes-of-endoscopic-optic-nerve-decompression-in-patients-with-idiopathic-intracranial-hypertension
#18
Luisam Tarrats, Gabriel Hernández, José M Busquets, Juan C Portela, Luis A Serrano, Lorena González-Sepúlveda, José R Sánchez-Pérez
BACKGROUND: The conventional treatment for idiopathic intracranial hypertension involves weight loss, steroids, diuretics, and/or serial lumbar punctures; however, if the symptoms persist or worsen, surgical intervention is recommended. Surgical options include cerebrospinal fluid diversion procedures, such as ventriculoperitoneal and lumboperitoneal shunts, and optic nerve decompression with nerve sheath fenestration. The latter can be carried out using an endoscopic approach, but the outcomes of this technique have not been firmly established...
June 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28360352/intracranial-venous-pressures-under-conscious-sedation-and-general-anesthesia
#19
Daniel M S Raper, Thomas J Buell, Ching-Jen Chen, Dale Ding, Robert M Starke, Kenneth C Liu
INTRODUCTION: Venous outflow obstruction has been implicated in the pathophysiology of a subset of patients with idiopathic intracranial hypertension (IIH), and venous sinus stenting (VSS) has emerged as an effective treatment. However, the effect of anesthesia on venous sinus pressure measurements is unpredictable. A more thorough understanding of the effect of the level of anesthesia on intracranial venous pressures might help to better define patients who might benefit most from stent placement...
March 30, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28357554/outcome-of-treatment-after-failed-endoscopic-third-ventriculostomy-etv-in-infants-with-aqueductal-stenosis-results-from-the-international-infant-hydrocephalus-study-iihs
#20
Abhaya V Kulkarni, Spyros Sgouros, Shlomi Constantini
INTRODUCTION: After an endoscopic third ventriculostomy (ETV) fails, it is unclear how well subsequent treatment fares, especially in comparison to shunts inserted as primary treatment. In this study, we present a further analysis of the infants enrolled a prospective multicentre study who failed ETV and describe the outcome of their subsequent treatment, comparing this to those who received shunt as their primary treatment. METHODS: This was a post hoc analysis of data from the International Infant Hydrocephalus Study (IIHS)-a prospective, multicentre study of infants with hydrocephalus from aqueductal stenosis who received either an ETV or shunt...
March 29, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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