keyword
MENU ▼
Read by QxMD icon Read
search

Brain malformation

keyword
https://www.readbyqxmd.com/read/28548596/cyst-formation-after-stereotactic-radiosurgery-for-brain-arteriovenous-malformations-a-systematic-review
#1
Adeel Ilyas, Ching-Jen Chen, Dale Ding, Panagiotis Mastorakos, Davis G Taylor, I Jonathan Pomeraniec, Cheng-Chia Lee, Jason Sheehan
OBJECTIVE Cyst formation can occasionally occur after stereotactic radiosurgery (SRS) for brain arteriovenous malformations (AVMs). Given the limited data regarding post-SRS cyst formation in patients with AVM, the time course, natural history, and management of this delayed complication are poorly defined. The aim of this systematic review was to determine the incidence, time course, and optimal management of cyst formation after SRS for AVMs. METHODS A literature review was performed using PubMed to identify studies reporting cyst formation in AVM patients treated with SRS...
May 26, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#2
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#3
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28539259/congenital-anomalies-in-tunisia-frequency-and-risk-factors
#4
Meriem Aloui, Kaouther Nasri, Abdel Majid Ben Hamida, Raja Marrakchi, Soumeya Siala Gaïgi
BACKGROUND: Despite the high risk of recurrence of congenital malformations, there are no well-accepted preventive measures in developing countries like Tunisia. It is recommended that thorough epidemiological studies of congenital anomalies in this country are needed. The aim of this study is to assess the frequency and types of congenital anomalies in Tunisia and research some risk factors associated with occurrence of these anomalies. METHODS: In this retrospective study, all the fetuses who were autopsied during 21 years period from February 1991 to December 2011 (N=9678) at service of embryofetopathology in the Center of Maternity and Neonatology of Tunis (CMNT) were studied...
May 21, 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28536298/papers-of-note-in-nature545-7654
#5
Annalisa M VanHook
This week's articles highlight plant growth responses to nutrients; axonal pathfinding; an unexpected source of tumor niche cells; photosensation in the fly brain; the selectivity of GPCRs for specific G proteins; balancing mTORC signaling; and a connection between gut microbes and brain vasculature malformations.
May 23, 2017: Science Signaling
https://www.readbyqxmd.com/read/28534135/automated-algorithm-for-counting-microbleeds-in-patients-with-familial-cerebral-cavernous-malformations
#6
Xiaowei Zou, Blaine L Hart, Marc Mabray, Mary R Bartlett, Wei Bian, Jeffrey Nelson, Leslie A Morrison, Charles E McCulloch, Christopher P Hess, Janine M Lupo, Helen Kim
PURPOSE: Familial cerebral cavernous malformation (CCM) patients present with multiple lesions that can grow both in number and size over time and are reliably detected on susceptibility-weighted imaging (SWI). Manual counting of lesions is arduous and subject to high variability. We aimed to develop an automated algorithm for counting CCM microbleeds (lesions <5 mm in diameter) on SWI images. METHODS: Fifty-seven familial CCM type-1 patients were included in this institutional review board-approved study...
May 22, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28528424/trps1-gene-alterations-in-human-subependymoma
#7
Sascha B Fischer, Michelle Attenhofer, Sakir H Gultekin, Donald A Ross, Karl Heinimann
Subependymoma is a rare primary brain tumor, constituting 0.07-0.51% of brain tumors. Genetic alterations in subependymoma are largely unknown, but familial occurrences have been reported. Trichorhinophalangeal syndrome type 1 (TRPS1) is a rare hereditary malformation complex caused by mutations in a gene identified in the year 2000 on 8q24.12. We report two patients with TRPS I and surgically treated subependymomas, one of whom has a first degree relative, now deceased, who was affected and also had a subependymoma...
May 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28524219/-epileptic-encephalopathies
#8
J Ramos-Lizana
According to the International League Against Epilepsy's (ILAE) Commission on Classification and Terminology, the term 'epileptic encephalopathy' reflects the notion that epileptic activity in itself can contribute to the genesis of severe cognitive or behavioural disabilities, beyond what could be expected from the pathology underlying the epilepsy. However, in many cases it is difficult to define the boundary between the relative contribution of the epileptic seizures and the underlying cause in the genesis of cognitive deficits...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28522939/identification-of-protein-targets-in-cerebral-endothelial-cells-for-brain-arteriovenous-malformation-avms-molecular-therapies
#9
Margaret Simonian, Rachel R Ogorzalek Loo, Nalaka Rannulu, Joseph A Loo, Mark P Molloy, Marcus A Stoodley
BACKGROUND: To develop a new molecular targeted treatment for brain (AVMs), identification of membrane proteins that are localised on the AVM endothelium is crucial. Current treatment methods are surgery and radiosurgery. However, complete occlusion post radiosurgery are achieved within 3 years, while patient remain at risk of haemorrhage. This study aims to identify potential protein targets in AVM endothelial cells that discriminate these vessels from normal vessels; these proteins targets will be investigated for the molecular therapy of brain AVMs to promote rapid thrombosis after radiosurgery...
2017: Clinical Proteomics
https://www.readbyqxmd.com/read/28522665/nonmicrocephalic-infants-with-congenital-zika-syndrome-suspected-only-after-neuroimaging-evaluation-compared-with-those-with-microcephaly-at-birth-and-postnatally-how-large-is-the-zika-virus-iceberg
#10
M F V V Aragao, A C Holanda, A M Brainer-Lima, N C L Petribu, M Castillo, V van der Linden, S C Serpa, A G Tenório, P T C Travassos, M T Cordeiro, C Sarteschi, M M Valenca, A Costello
BACKGROUND AND PURPOSE: Although microcephaly is the most prominent feature of congenital Zika syndrome, a spectrum with less severe cases is starting to be recognized. Our aim was to review neuroimaging of infants to detect cases without microcephaly and compare them with those with microcephaly. MATERIALS AND METHODS: We retrospectively evaluated all neuroimaging (MR imaging/CT) of infants 1 year of age or younger. Patients with congenital Zika syndrome were divided into those with microcephaly at birth, postnatal microcephaly, and without microcephaly...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28522661/quantitative-folding-pattern-analysis-of-early-primary-sulci-in-human-fetuses-with-brain-abnormalities
#11
K Im, A Guimaraes, Y Kim, E Cottrill, B Gagoski, C Rollins, C Ortinau, E Yang, P E Grant
BACKGROUND AND PURPOSE: Aberrant gyral folding is a key feature in the diagnosis of many cerebral malformations. However, in fetal life, it is particularly challenging to confidently diagnose aberrant folding because of the rapid spatiotemporal changes of gyral development. Currently, there is no resource to measure how an individual fetal brain compares with normal spatiotemporal variations. In this study, we assessed the potential for automatic analysis of early sulcal patterns to detect individual fetal brains with cerebral abnormalities...
May 18, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28521439/arteriovenous-malformation-and-thyroid-metastasis-from-underlying-renal-cell-carcinoma-an-unusual-presentation-of-malignancy-a-case-report
#12
H J Albandar, E S Roberto, J R H See, J H Sabiers
Renal Clear Cell Carcinoma (RCC) comprises over 80% of renal malignancies in adults. Thyroid gland metastasis is rare in RCC. Few studies have described cases of RCC mistaken for benign arteriovenous malformation (AVM). To the best of our knowledge, an AVM arising from underlying RCC metastasis to the brain has not yet been reported. The current study presents a case of RCC metastasis to the thyroid gland, with an AVM identified to be a result of metastatic involvement in the brain. A 45-year-old African-American female presented with left-sided weakness, slurred speech, facial droop and seizure...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28520681/delayed-dural-leak-following-posterior-spinal-fusion-for-idiopathic-scoliosis-using-all-posterior-pedicle-screw-technique
#13
Lorena V Floccari, A Noelle Larson, Anthony A Stans, Jeremy Fogelson, Iikka Helenius
BACKGROUND: In pediatric patients, pedicle screws are malpositioned 5% to 15% of the time. Complications associated with malpositioned screws are infrequently reported in the literature. We present a series of adolescent idiopathic scoliosis (AIS) patients who presented in a delayed manner with positional headache and chronic dural leak adjacent to the pedicle screw tract. METHODS: Scoliosis databases at 2 centers were reviewed, and cases of delayed positional headaches following posterior spinal fusion for AIS were identified...
May 17, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28515470/a-novel-missense-mutation-in-the-hect-domain-of-nedd4l-identified-in-a-girl-with-periventricular-nodular-heterotopia-polymicrogyria-and-cleft-palate
#14
Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HECT domain of NEDD4L have been reported in patients with a neurodevelopmental disorder along with similar brain malformations. All patients reported with NEDD4L HECT domain mutations showed periventricular nodular heterotopia, and most had seizures, cortex anomalies, cleft palate and syndactyly...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#15
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503077/an-unusual-association-of-headache-epilepsy-and-late-onset-kleist-s-pseudodepression-syndrome-in-frontal-lobe-cavernoma-of-the-cerebral-left-hemisphere
#16
Domenico Chirchiglia, Attilio Della Torre, Domenico Murrone, Pasquale Chirchiglia, Rosa Marotta
Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28502562/grade-1-spetzler-and-martin-cerebral-ruptured-arteriovenous-malformations-treated-by-microsurgery-poor-functional-outcome-is-related-to-injury-from-haemorrhage
#17
R Aboukaïs, M Quidet, M Baroncini, P Bourgeois, X Leclerc, M Vinchon, J-P Lejeune
INTRODUCTION: Ruptured arteriovenous malformations (rAVM) are life-threatening diseases. OBJECTIVE: To evaluate the outcome of patients with grade 1 SPM rAVM after microsurgical treatment. MATERIALS AND METHOD: We retrospectively included 64 consecutive operated patients with a grade 1 SPM rAVM in our institution between 2002 and 2012. Complications related to the surgical procedure were recorded. All patients were re-evaluated 3months after treatment using the modified Rankin Scale score (mRS)...
May 11, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28500367/evolution-of-posterior-fossa-and-brain-morphology-after-in-utero-repair-of-open-neural-tube-defects-assessed-by-mri
#18
Christin Rethmann, Ianina Scheer, Martin Meuli, Luca Mazzone, Ueli Moehrlen, Christian Johannes Kellenberger
OBJECTIVES: To describe characteristics of foetuses undergoing in utero repair of open neural tube defects (ONTD) and assess postoperative evolution of posterior fossa and brain morphology. METHODS: Analysis of pre- and postoperative foetal as well as neonatal MRI of 27 foetuses who underwent in utero repair of ONTD. Type and level of ONTD, hindbrain configuration, posterior fossa and liquor space dimensions, and detection of associated findings were compared between MRI studies and to age-matched controls...
May 12, 2017: European Radiology
https://www.readbyqxmd.com/read/28500274/combined-hmg-coa-reductase-and-prenylation-inhibition-in-treatment-of-ccm
#19
Sayoko Nishimura, Ketu Mishra-Gorur, JinSeok Park, Yulia V Surovtseva, Said M Sebti, Andre Levchenko, Angeliki Louvi, Murat Gunel
Cerebral cavernous malformations (CCMs) are common vascular anomalies that develop in the central nervous system and, more rarely, the retina. The lesions can cause headache, seizures, focal neurological deficits, and hemorrhagic stroke. Symptomatic lesions are treated according to their presentation; however, targeted pharmacological therapies that improve the outcome of CCM disease are currently lacking. We performed a high-throughput screen to identify Food and Drug Administration-approved drugs or other bioactive compounds that could effectively suppress hyperproliferation of mouse brain primary astrocytes deficient for CCM3...
May 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28499675/growth-and-psychological-development-in-postoperative-patients-with-anterior-encephaloceles
#20
Hemonta Kumar Dutta, Chow Wachana Khangkeo, Kaberi Baruah, Debasish Borbora
PURPOSE: Anterior encephaloceles are rare malformations that are frequently associated with other brain anomalies. This study evaluates the growth and psychological development of children following encephalocele repair. MATERIALS & METHODS: Growth and psychological assessment was done in 24 children with only encephalocele (group I); nine children with encephalocele and hydrocephalus (group II); seven children with encephalocele, hydrocephalus, and secondary malformations (group III); and 40 apparently healthy control subjects...
February 8, 2017: Pediatric Neurology
keyword
keyword
93809
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"