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https://www.readbyqxmd.com/read/28938747/prevalence-of-endocrine-and-genetic-abnormalities-in-boys-evaluated-systematically-for-a-disorder-of-sex-development
#1
R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, M McMillan, A I Purvis, E S Tobias, R McGowan, S F Ahmed
STUDY QUESTION: What is the likelihood of identifying genetic or endocrine abnormalities in a group of boys with 46, XY who present to a specialist clinic with a suspected disorder of sex development (DSD)? SUMMARY ANSWER: An endocrine abnormality of the gonadal axis may be present in a quarter of cases and copy number variants (CNVs) or single gene variants may be present in about half of the cases. WHAT IS KNOWN ALREADY: Evaluation of 46, XY DSD requires a combination of endocrine and genetic tests but the prevalence of these abnormalities in a sufficiently large group of boys presenting to one specialist multidisciplinary service is unclear...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938309/successful-treatment-with-dabigatran-for-consumptive-coagulopathy-associated-with-extensive-vascular-malformations
#2
Atsushi Yasumoto, Ryohei Ishiura, Mitsunaga Narushima, Yutaka Yatomi
: Vascular malformation is occasionally complicated by consumptive coagulopathy, known as localized intravascular coagulopathy (LIC), which is characterized by a reduced fibrinogen level, an elevated D-dimer level and a normal platelet count. We report the case of a 17-year-old Japanese girl who presented with LIC secondary to extensive vascular malformations, whose condition had progressed to disseminated intravascular coagulation (DIC). She suddenly presented with severe anaemia, despite the absence of obvious bleeding, and she began to require regular red blood cell (RBC) transfusions...
September 21, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28937545/non-contrast-pseudo-continuous-arterial-spin-labeling-and-accelerated-3-dimensional-radial-acquisition-intracranial-3-dimensional-magnetic-resonance-angiography-for-the-detection-and-classification-of-intracranial-arteriovenous-shunts
#3
Tilman Schubert, Zachary Clark, Carolina Sandoval-Garcia, Ryan Zea, Oliver Wieben, Huimin Wu, Patrick A Turski, Kevin M Johnson
OBJECTIVES: The aim of this study was to assess the sensitivity and specificity of pseudo-continuous arterial spin labeling (PCASL) magnetic resonance angiography (MRA) with 3-dimensional (3D) radial acquisition for the detection of intracranial arteriovenous (AV) shunts. MATERIALS AND METHODS: A total of 32 patients who underwent PCASL-MRA, clinical magnetic resonance imaging (MRI)/MRA exam, and digital subtraction angiography (DSA) were included in this retrospective analysis...
September 20, 2017: Investigative Radiology
https://www.readbyqxmd.com/read/28937080/branchio-oto-renal-syndrome-presenting-with-syndrome-of-hyporeninemic-hypoaldosteronism
#4
Jane Jackie David, Preeti Shanbag
Branchio-oto-renal (BOR) syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and renal malformations. We report the case of a 10-year-old boy with BOR syndrome who presented with hyperkalemic hyperchloremic metabolic acidosis due to hyporeninemic hypoaldosteronism. The child also had mental retardation and spastic diplegia which have hitherto not been described in BOR syndrome.
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28937050/preoperative-evaluation-for-complex-female-genital-tract-malformation-using-three-dimensional-printing-technology
#5
Shu Wang, Shan Deng, Lan Zhu, Jing-Jing Lu, Yue Wang, Jing-He Lang
No abstract text is available yet for this article.
October 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28936439/a-case-of-pulmonary-arteriovenous-malformation-role-of-interventional-radiology-in-diagnosis-and-treatment
#6
Pranav Sharma, Puneet Kochar, Salil Sharma, Nishant Gupta, Shuo Li, Kusum Hooda, Yogesh Kumar
Pulmonary arterio-venous malformations (PAVMs) are abnormal pulmonary arteries and pulmonary veins communicating directly without interposition of a capillary bed and about 80-90% of patients with PAVMs eventually may present with hereditary hemorrhagic telangiectasia (HHT), remaining ones are sporadic cases. On the other hand, about 15-35% of HHT patients may present with PAVMs. The PAVMs have a tendency to grow and increase in size over time and various factors like puberty, pregnancy and pulmonary arterial hypertension (PAH) affect growth...
September 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28936056/syringocystadenoma-papilliferum-of-sweat-gland-of-caruncle-a-unique-case-report
#7
Anuradha Raj, R C Nagpal, Meena Harsh, Harsh Bahadur
Syringocystadenoma papilliferum (SP) is a rare benign hamartomatous malformation of skin which arises from apocrine or eccrine sweat glands. Skin of the head and neck is the usual site for this but rarely involves the eyelids. It is also called as a childhood tumor since it usually appears at birth or during puberty. The diagnosis is confirmed on histopathological examination after surgical excision. We are first to report a case of SP involving the caruncle in an elderly female.
April 2017: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/28935331/modified-ravitch-procedure-for-left-poland-syndrome-combined-with-pectus-excavatum
#8
Gildardo Cortés-Julián, Hussein B Bushra-Nuritu, Renata Buenfil-Fuentes, José A Merino Rajme
Poland Syndrome is a rare disease with an incidence of 1 in 30,000. This disease is characterized by agenesis of the pectoralis major, hypoplasia of mammarian tissue and the nipple complex, and limb abnormalities. The severe form of this disease can be associated with rib and sternal malformations like pectus excavatum. A 19-year-old man with severe Poland syndrome with cardiac extrasystoles and restrictive ventilation as shown by a spirometry test is presented. A total sternal reconstruction with partial osteotomies and bilateral resection of cartilage was performed...
October 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28935329/bidirectional-inferior-cavopulmonary-anastomosis-pre-fontan-interim-palliation
#9
Muhammad Aanish Raees, Driss Mazhar, Jason T Christensen, David Andres Parra, Stacy Killen, David P Bichell
We report a novel method of constructing an extracardiac bidirectional inferior cavopulmonary anastomosis. Our patient was a 4-month-old girl with complex single-ventricle anatomy and a small-caliber superior vena cava. A direct anastomosis from the inferior vena cava to the main pulmonary artery was constructed by using all autologous tissue. The resulting pathway remained patent and exhibited growth with age. Furthermore, a pulmonary arteriovenous malformation did not develop. This case demonstrates how a bidirectional inferior cavopulmonary anastomosis is feasible in the human and can provide similar hemodynamic results as the bidirectional superior cavopulmonary anastomosis...
October 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28934934/effects-of-x-ray-on-the-metacestodes-of-echinococcus-granulosus-in-vitro
#10
Rui Mao, Ge Wu, Hui Wang, Pengfei Lu, Jun Li, Haitao Li, Aimudula Ainiwaer, Yiwei Bai, Mingyang Shu, Yongxing Bao, Wenbao Zhang
BACKGROUND: Radiotherapy may represent an alternative treatment modality for cystic echinococcosis (CE), but there is no adequate evidence for it up to now. In this study, we aim to investigate the parasiticidal effects of X-ray on the metacestodes of Echinococcus granulosus in vitro. METHODS: Protoscoleces obtained from sheep naturally infected with CE were cultivated in RPMI 1640 medium containing 10% fetal bovine serum (FBS) at 37 °C in 5% CO2. Upon encystation on day 14, the metacestodes were subjected to various intensities of X-ray...
September 21, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28934336/the-oldest-record-of-aquatic-amniote-congenital-scoliosis
#11
Tomasz Szczygielski, Dawid Surmik, Agnieszka Kapuścińska, Bruce M Rothschild
We report the first occurrence of congenital scoliosis in an early Permian aquatic parareptile, Stereosternum tumidum from Paraná state, Brazil. The spine malformation is caused by a congenital hemivertebra. These observations give insight into the biomechanical aspects of underwater locomotion in an axial skeleton-compromised aquatic amniote. This is the oldest record of a hemivertebra in an aquatic animal.
2017: PloS One
https://www.readbyqxmd.com/read/28934242/twelve-years-of-chiari-like-malformation-and-syringomyelia-scanning-in-cavalier-king-charles-spaniels-in-the-netherlands-towards-a-more-precise-phenotype
#12
Katrien Wijnrocx, Leonie W L Van Bruggen, Wieteke Eggelmeijer, Erik Noorman, Arnold Jacques, Nadine Buys, Steven Janssens, Paul J J Mandigers
Chiari-like malformation (CM), syringomyelia (SM) and middle ear effusion (also called PSOM) are three conditions that frequently occur in Cavalier King Charles Spaniels (CKCS). Both CM and SM are currently screened in the Netherlands prior to breeding and are graded according to the British Veterinary Association's Kennel Club (BVA/KC) scheme. This study evaluated the prevalence and estimated genetic parameter of CM, SM and middle ear effusion from 12 years of screening results. For SM, the classical method using the BVA/KC scheme, was compared with exact measuring of the central canal dilation...
2017: PloS One
https://www.readbyqxmd.com/read/28934068/upper-limb-hemimelia-in-a-twin-pregnancy-which-was-obtained-by-an-icsi-and-pgd-in-a-woman-with-mosaic-turner-s-syndrome-and-the-prognosis
#13
Ahter Tanay Tayyar, Ahmet Tayyar, Ahmet Eser, Çetin Kılıçcı, İlter Yenidede, Selçuk Selçuk
Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype...
September 21, 2017: Organogenesis
https://www.readbyqxmd.com/read/28933030/phenotype-comparison-confirms-zmynd11-as-a-critical-gene-for-10p15-3-microdeletion-syndrome
#14
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies...
September 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#15
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28932041/hemangiolymphangioma-of-buccal-mucosa-a-rare-case-report
#16
Selvamani Manickam, Prem Sasikumar, B Nanda Kishore, Sheethal Joy
Vascular anomalies are mainly classified under two headings, i.e. under vascular tumors and vascular malformations. Hemangioma and lymphangioma are examples for such a vascular anomalies. Malformations may be seen in different combinations of vascular elements, and histologically these vessels may be filled with blood and named lymphangiohemangioma or hemangiolymphangioma according to the dominant tissue structure present. It is a rare developmental anomaly. This paper reports a case of lymphangiohemangioma in a 21-year-old female patient...
May 2017: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/28931684/zika-virus-encoding-non-glycosylated-envelope-protein-is-attenuated-and-defective-in-neuroinvasion
#17
Arun S Annamalai, Aryamav Pattnaik, Bikash R Sahoo, Ezhumalai Muthukrishnan, Sathish Kumar Natarajan, David Steffen, Hiep L X Vu, Gustavo Delhon, Fernando A Osorio, Thomas M Petro, Shi-Hua Xiang, Asit K Pattnaik
Zika virus (ZIKV), a mosquito-transmitted flavivirus, responsible for sporadic outbreaks of mild and febrile illness in Africa and Asia, re-emerged in the last decade causing serious human diseases including microcephaly, congenital malformations, and Guillain-Barré syndrome. Although genomic and phylogenetic analyses suggest that genetic evolution may have led to enhanced virulence of ZIKV, experimental evidence supporting the role of specific genetic changes in virulence is currently outstanding. One sequence motif, VNDT, containing an N-linked glycosylation site in the envelope (E) protein, is polymorphic, being absent in many of the African isolates while present in all isolates from the recent outbreaks...
September 20, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28931341/the-neurotoxic-effects-of-prenatal-gabapentin-and-oxcarbazepine-exposure-on-newborn-rats
#18
Zuleyha Erisgin, Bulent Ayas, Jens R Nyengaard, N Ercument Beyhun, Yuksel Terzi
Teratogenicity is a problematic issue for pregnant women because of x-ray radiation, drugs, genetic and unknown variables. First generation antiepileptic drugs (AED) like valproic acid are well-known teratogens for developing foetuses. However, their usage is necessary in order to prevent maternal seizures. The underlying mechanism of birth defects associated with AED exposure remains unclear and information about the neurotoxic effects of prenatal exposure to AED is still limited. Oxcarbazepine (OXC) and gabapentin (GBP) are second generation antiepileptic drugs...
September 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28931259/combined-transsylvian-transventricular-approach-to-a-hippocampal-arteriovenous-malformation-3-dimensional-operative-video
#19
Mohamed A Labib, Amir R Dehdashti
No abstract text is available yet for this article.
February 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28931254/cavernomas-and-arteriovenous-malformations-in-the-mesial-temporal-region-microsurgical-anatomy-and-approaches
#20
Alvaro Campero, Pablo Ajler, Carlos Rica, Albert Rhoton
BACKGROUND: The mesial temporal region (MTR) is located deep in the temporal lobe and it is surrounded by important vascular and nervous structures that should be preserved during surgery. OBJECTIVE: To describe microsurgical anatomy and approaches to the MTR in relation to cavernomas and arteriovenous malformations (AVMs). METHODS: Five formalin-fixed and red silicone-embedded heads of adult cadavers were used for this study. Between January 2003 and June 2014, 7 patients with cavernomas and 6 patients with AVMs in the MTR underwent surgery...
February 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
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