keyword
MENU ▼
Read by QxMD icon Read
search

Malformation

keyword
https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#1
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29141214/partitioning-of-one-carbon-units-in-folate-and-methionine-metabolism-is-essential-for-neural-tube-closure
#2
Kit-Yi Leung, Yun Jin Pai, Qiuying Chen, Chloe Santos, Enrica Calvani, Sonia Sudiwala, Dawn Savery, Markus Ralser, Steven S Gross, Andrew J Copp, Nicholas D E Greene
Abnormal folate one-carbon metabolism (FOCM) is implicated in neural tube defects (NTDs), severe malformations of the nervous system. MTHFR mediates unidirectional transfer of methyl groups from the folate cycle to the methionine cycle and, therefore, represents a key nexus in partitioning one-carbon units between FOCM functional outputs. Methionine cycle inhibitors prevent neural tube closure in mouse embryos. Similarly, the inability to use glycine as a one-carbon donor to the folate cycle causes NTDs in glycine decarboxylase (Gldc)-deficient embryos...
November 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/29141064/port-wine-stains-a-focused-review-on-their-management
#3
Katelyn Mariko Updyke, Amor Khachemoune
<p>Port-wine stain (PWS) is the second most common congenital vascular malformation characterized as ectatic capillaries and venules in the dermis that clinically appears as a deep red to purple patch on the skin. Typically, PWS progressively darken and may become hypertrophic or nodular without treatment. There are several treatment options available for PWS from topical antiangiogenic agents to laser therapies. Vascular-specific lasers are the gold standard in treating PWS and classically pulsed dye lasers are usually the treatment of choice...
November 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#4
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29139152/giant-intracranial-arteriovenous-malformation-as-the-focus-of-epileptic-seizures
#5
Mio Takayama, Kenji Hara, Aya Matsusue, Brian Waters, Natsuki Ikematsu, Masayuki Kashiwagi, Shin-Ichi Kubo
A man in his late thirties was found in a supine position in the hallway of his house. He had been diagnosed with epilepsy at approximately 20 years old. Since stopping treatment, epileptic events occurred more frequently and his condition deteriorated in the past 2 years. Autopsy revealed that head injuries were found on the left side of his head. A fracture from the left parietal bone to the anterior cranial fossa was also detected. A subdural hemorrhage (hematoma) spanned a wide range. A subarachnoid hemorrhage was also identified in the left parietal region...
November 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29138705/physiotherapy-and-rehabilitation-in-a-child-with-joubert-syndrome
#6
Özge İpek, Özge Akyolcu, Banu Bayar
Objective: Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods: Our case is a 19-month-old female child with mild clinical signs of JS. The pretreatment and posttreatment motor functioning level of the case was evaluated through the Gross Motor Function Measure (GMFM), whereas the independence level was evaluated through the Pediatric Functional Independence Measure (WeeFIM)...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138199/electrosclerotherapy-for-capillary-malformations-study-protocol-for-a-randomised-within-patient-controlled-pilot-trial
#7
Sophie E R Horbach, Albert Wolkerstorfer, Daniel Martijn de Bruin, Chantal M A M van der Horst
INTRODUCTION: The current state-of-the-art treatment modality for hypertrophic capillary malformations (CMs), laser therapy, has a considerable rate of non-responders and recurrence. Intralesional bleomycin injections (or 'sclerotherapy') are commonly used to treat venous and lymphatic malformations with an excellent effect, but these intravascular injections are not possible in CMs due to the small diameter of the vessels. Electroporation-an electric field applied to the tissue-could increase the permeability of endothelial cells, which could theoretically facilitate targeted localised bleomycin delivery...
November 14, 2017: BMJ Open
https://www.readbyqxmd.com/read/29138073/comparision-of-results-between-posterior-fossa-decompression-with-and-without-duraplasty-for-the-surgical-treatment-of-chiari-malformation-type-i%C3%AF-a-systematic-review-and-meta-analysis
#8
REVIEW
Weiwei Lin, Guman Duan, Jinjin Xie, Jiashen Shao, Zhaoqi Wang, Baohua Jiao
BACKGROUND: Posterior fossa decompression without (PFD) or with duraplasty (PFDD) for the treatment of type 1 Chiari malformation (CM-I) is controversial. We thus did a systematic review and meta-analysis of studies to assess the effect on clinical and imaging improvement, operative time, complications and recurrence rate between PFD and PFDD in patients with CM-I. METHODS: We systematically searched PubMed, Embase, Cochrane, Web of Knowledge, and ClinicalTrials...
November 11, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29137915/first-line-direct-access-for-transarterial-embolization-of-a-dural-arteriovenous-fistula-case-report-and-literature-review
#9
Brent J Doolan, Iddo Paldor, Peter J Mitchell, Andrew P Morokoff
Intracranial dural arteriovenous fistulae (DAVF) are complex vascular malformations consisting of a pathological shunt located between meningeal arteries and drainage to dural venous sinuses and/or cerebral veins. We report an unusual anatomical variation, resulting in a DAVF forming between the superior sagittal sinus and an anomalous origin of the middle meningeal artery (MMA) arising from the left ophthalmic artery. We present an atypical case requiring mini-craniotomy for catheter access, as well as cannulation of extracranial arterial supply prior to embolization of a Cognard type IIa+b fistula...
November 11, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29137094/a-novel-non-contrast-enhanced-mra-using-silent-scan-for-evaluation-of-brain-arteriovenous-malformation-a-case-report-and-review-of-literature
#10
Jin Il Moon, Hye Jin Baek, Kyeong Hwa Ryu, Hyun Park
RATIONALE: Brain arteriovenous malformations (AVMs) are congenital vascular abnormalities involving abnormal connections between arteries and veins. In clinical practice, imaging studies help evaluate feeding arteries, niduses, draining venous systems, and coexisting complications in patients with brain AVM. They also have an impact on decision-making regarding clinical management. We applied a novel non-contrast-enhanced MR angiography (MRA) technique, termed "silent MRA," for evaluating an incidental brain AVM...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137064/clinical-features-and-prognostic-factors-in-patients-with-intraventricular-hemorrhage-caused-by-ruptured-arteriovenous-malformations
#11
Zengpanpan Ye, Xiaolin Ai, Xin Hu, Fang Fang, Chao You
Intraventricular hemorrhage (IVH) was associated with poor outcomes in patients with intracerebral hemorrhage. IVH had a high incidence in patients with ruptured arteriovenous malformations (AVMs). In this study, we aimed to discuss the clinical features and prognostic factors of outcomes in the patients with AVM-related IVH.From January 2010 to January 2016, we collected the data of the patients with AVM-related IVH retrospectively. The data, including clinical and radiological parameters, were collected to evaluate the clinical features...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#12
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136712/-long-term-outcome-and-prognostic-factors-in-pregnant-women-with-pulmonary-arterial-hypertension-associated-with-congenital-heart-disease
#13
Q T Ou, J K Lu, J Zhang, Y Chen, Q Li, J L Zhang
Objective: To investigate the perinatal outcome, risk factors and long-term outcome of pregnancy complicated with pulmonary arterial hypertension(PAH) and congenital heart diseases (CHD). Methods: Clinical data of 110 pregnant women who were diagnosed as PAH-CHD were retrospectively analyzed in the Department of Obstetrics and Gynecology and Surgical Intensive Care Unit at Beijing Anzhen Hospital from 2004 to 2013. The survival and treatment status were followed up. Results: 110 subjects consisted of 11 mild PAH, 33 moderate and 66 severe ones...
November 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/29136354/-minimal-holoprosencephaly-in-a-14q-deletion-syndrome-patient
#14
Elvio Della Giustina, Alessandro Iodice, Carlotta Spagnoli, Simona Giovannini, Daniele Frattini, Carlo Fusco, Giuseppe Gobbi, Marcella Zollino, Giovanni Neri
We report on a patient with terminal deletion of the long arm of chromosome 14 displaying brain interhemispheric fusion limited to the midline anterior frontal cortex associated with hypoplastic corpus callosum and incomplete rotation of the left hippocampus in a clinical setting of motor and intellectual disability with poor language, and social behavior abnormalities with aggressiveness. Some possible correlations between clinical signs and symptoms and various aspects of the complex brain malformation are briefly discussed and compared with other known abnormalities of chromosome 14...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#15
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29136059/concurrent-sturge-weber-syndrome-facial-infantile-hemangioma-and-cutis-marmorata-telangiectatica-congenita
#16
Nina Poliak, Anthony Rainey
We present a unique case of 3 vascular malformations-Sturge-Weber syndrome (SWS), facial infantile hemangioma (IH), and cutis marmorata telangiectatica congenita (CMTC)-with dermatologic manifestations presenting in the same patient. This case highlights the possibility of occurrence of multiple vascular malformations in the same patient; the potential role of epigenetic factors; and the importance of a multidisciplinary approach to diagnose, treat, and manage this complicated interplay of vascular abnormalities to achieve the best outcome...
October 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29135270/-effectiveness-of-prenatal-ultrasound-in-fetal-and-neonatal-malformations-and-examination-of-difficulty-and-uncertainty-factors
#17
Fanni Rebeka Erős, Artúr Beke
INTRODUCTION AND AIM: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. METHOD: We have processed the prenatal sonographic and postnatal clinical details of 1867 inborn abnormalities in 1200 fetuses over a 7-year period. RESULTS: The mean maternal age upon delivery/abortion was 29.96 ± 5.88 years. In 671 cases, the pregnancy concluded in delivery with a mean gestational age of 35...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29134786/investigation-of-dominant-and-recessive-inheritance-models-in-gwas-data-of-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#18
Anne C Böhmer, Lina Gölz, Thomas Kreusch, Franz-Josef Kramer, Bernd Pötzsch, Markus M Nöthen, Andreas Jäger, Elisabeth Mangold, Michael Knapp, Kerstin U Ludwig
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is one of the most common congenital malformation worldwide, and its etiology involves both genetic and environmental factors. Recent genome-wide and targeted genetic studies of nsCL/P have identified numerous genetic risk loci, under the hypothesis of a multiplicative mode of inheritance. The present study investigated whether novel nsCL/P risk loci could be identified by analyzing dominant/recessive genetic effects in single nucleotide polymorphism (SNP) data from genome-wide association studies...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29134176/recurrent-hematuria-in-renal-angio-venous-malformation-delay-diagnosis-and-endovascular-treatment-a-case-report
#19
Babak Javanmard, Hamidreza Haghighat Khah, Morteza Fallah-Karkan, Salamullah Khan
No abstract text is available yet for this article.
January 2018: Urology Case Reports
https://www.readbyqxmd.com/read/29133928/the-role-of-the-cytoskeleton-in-biomineralisation-in-haptophyte-algae
#20
Grażyna M Durak, Colin Brownlee, Glen L Wheeler
The production of calcium carbonate by coccolithophores (haptophytes) contributes significantly to global biogeochemical cycling. The recent identification of a silicifying haptophyte, Prymnesium neolepis, has provided new insight into the evolution of biomineralisation in this lineage. However, the cellular mechanisms of biomineralisation in both calcifying and silicifying haptophytes remain poorly understood. To look for commonalities between these two biomineralisation systems in haptophytes, we have determined the role of actin and tubulin in the formation of intracellular biomineralised scales in the coccolithophore, Coccolithus braarudii and in P...
November 13, 2017: Scientific Reports
keyword
keyword
51664
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"