keyword
MENU ▼
Read by QxMD icon Read
search

Congenital malformation

keyword
https://www.readbyqxmd.com/read/28087956/intralesional-injection-of-ok-432-in-cystic-hygroma
#1
M Hazim, S S Moses, I P Tan
BACKGROUND: Lymphangiomas are congenital malformations of the lymphatic system with characteristic dilated endothelium-lined spaces. It is vulnerability to infection or chemical irritants cause spontaneous reduction in size and in some cases complete resolution. Intralesional injection of OK-432 or Picibanil (lyophilized incubation mixture of Group A Streptococcus pyogenes of human origin) is slowly gaining recognition as its safety and efficacy standards have shown to avoid complications resulting from surgical interventions...
December 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28087285/apert-syndrome-a-consensus-on-the-management-of-apert-hands
#2
David A Pettitt, Zeeshaan Arshad, Anuj Mishra, Paul McArthur
INTRODUCTION: Apert Syndrome is a congenital condition characterised by primary craniosynostosis, midfacial malformations and complex symmetrical malformations of the hands and feet. The hands demonstrate one of the most complex collections of congenital upper limb deformities, posing a significant challenge for the paediatric hand surgeon. This study examines the extant literature and current practice of the four UK specialist craniofacial units regarding the management of Apert hands in order to provide a basis for guideline development...
December 10, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28087231/psychosocial-outcome-in-adult-men-born-with-hypospadias
#3
L Örtqvist, M Andersson, A Strandqvist, A Nordenström, L Frisén, G Holmdahl, A Nordenskjöld
INTRODUCTION: Hypospadias, which is a surgically treated congenital malformation of the male urethra, may have a negative impact on quality of life. This aspect has previously been subject to limited research. This study examined the long-term psychosocial outcome of a large cohort of adult males born with hypospadias. OBJECTIVE: The purpose of this case-control study was to assess a possible negative influence on the psychosocial outcome in adult males with hypospadias...
September 9, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28087183/co-expression-of-tissue-factor-and-il-6-in-immature-endothelial-cells-of-cerebral-cavernous-malformations
#4
Shouhei Noshiro, Takeshi Mikami, Yuko Kataoka-Sasaki, Masanori Sasaki, Hirofumi Ohnishi, Shunya Ohtaki, Masahiko Wanibuchi, Nobuhiro Mikuni, Jeffery D Kocsis, Osamu Honmou
Cerebral cavernous malformations (CCMs) are congenital abnormal clusters of capillaries that are prone to leaking and thought to result from a disorder of endothelial cells. The underlying pathology of CCM is not fully understood. We analyzed the expression of tissue factor (TF) and interleukin-6 (IL-6) in CCMs to determine the association of TF and IL-6 with clinical and pathological findings. Thirteen cases of operative specimens of sporadic CCMs were included in this study. The expression of messenger RNA of TF and IL-6 was assayed and the association with clinical factors was investigated...
January 10, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28079942/treatment-of-capillary-malformation-using-topical-timolol-combined-with-585-nm-pulsed-dye-laser-a-prospective-randomized-split-lesion-study
#5
Sang-Jin Cheon, Woo-Haing Shim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
Capillary malformation (CM) is a congenital vascular malformation characterized by the dilation of superficial dermal blood vessels.(1)  Currently, pulsed dye laser (PDL) is considered the gold standard for the treatment of CM.(1)  However, its use results in incomplete clearance despite multiple sessions and relapses during long-term follow-up.(1)  Alternative methods are needed to achieve improved therapeutic results. This article is protected by copyright. All rights reserved.
January 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28079822/successfully-treated-congenital-cystic-adenomatoid-malformation-by-open-fetal-surgery-a-care-compliant-case-report-of-a-5-year-follow-up-and-review-of-the-literature
#6
Dazhi Fan, Shuzhen Wu, Rui Wang, Yi Huang, Yao Fu, Wen Ai, Meng Zeng, Xiaoling Guo, Zhengping Liu
BACKGROUND: Congenital cystic adenomatoid malformation (CCAM) is a rare hamartomatous cystic lesion. Open fetal surgery currently provides a potential therapeutic option for management of a fetus with CCAM diagnosis. CASE SUMMARY: A 22-year-old G2P0 woman presented at (Equation is included in full-text article.)weeks' gestation for evaluation of a fetus with a left lung lesion and diagnosed as CCAM at (Equation is included in full-text article.)weeks' gestation...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28079116/katanin-p80-numa-and-cytoplasmic-dynein-cooperate-to-control-microtubule-dynamics
#7
Mingyue Jin, Oz Pomp, Tomoyasu Shinoda, Shiori Toba, Takayuki Torisawa, Ken'ya Furuta, Kazuhiro Oiwa, Takuo Yasunaga, Daiju Kitagawa, Shigeru Matsumura, Takaki Miyata, Thong Teck Tan, Bruno Reversade, Shinji Hirotsune
Human mutations in KATNB1 (p80) cause severe congenital cortical malformations, which encompass the clinical features of both microcephaly and lissencephaly. Although p80 plays critical roles during brain development, the underlying mechanisms remain predominately unknown. Here, we demonstrate that p80 regulates microtubule (MT) remodeling in combination with NuMA (nuclear mitotic apparatus protein) and cytoplasmic dynein. We show that p80 shuttles between the nucleus and spindle pole in synchrony with the cell cycle...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28077667/the-role-of-the-cerebellum-in-high-stages-of-motor-planning-hierarchy
#8
Luca Casartelli, Alessandra Federici, Ambra Cesareo, Emilia Biffi, Giulia Valtorta, Massimo Molteni, Luca Ronconi, Renato Borgatti
Motor planning is not a monolithic process, and distinct stages of motor planning are responsible for encoding different levels of abstractness. However, how these distinct components are mapped into different neural substrates remains an open question. We studied one of these high-level motor planning components, defined as second-order motor planning, in a patient (R.G.) with an extremely rare case of cerebellar agenesis but without any other cortical malformations. Second-order motor planning dictates that when two acts have to be performed sequentially, planning of the second act can influence the execution of the first...
January 11, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28076021/radiologic-assessment-of-native-renal-vasculature-a-multimodality-review
#9
Sayf Al-Katib, Monisha Shetty, Syed Mohammad A Jafri, Syed Zafar H Jafri
A wide range of clinically important anatomic variants and pathologic conditions may affect the renal vasculature, and radiologists have a pivotal role in the diagnosis and management of these processes. Because many of these entities may not be suspected clinically, renal artery and vein assessment is an essential application of all imaging modalities. An understanding of the normal vascular anatomy is essential for recognizing clinically important anatomic variants. An understanding of the protocols used to optimize imaging modalities also is necessary...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28075445/a-clinical-and-molecular-analysis-of-a-patient-with-emanuel-syndrome
#10
Jin-Wen Luo, Huan Yang, Zhi-Ping Tan, Ming Tu, Hong Luo, Yi-Feng Yang, Li Xie
Emanuel syndrome (ES) is the most frequent type of recurrent non‑Robertsonian translocation that is characterized by numerous anomalies. Over 100 patients with ES have been described in the literature. The phenotype of this syndrome varies but often consists of facial dysmorphism, microcephaly, severe intellectual disability, developmental retardation, congenital heart disease and genital anomalies. The present study describes a 2‑year‑old boy with multiple malformations, including facial dysmorphism, severe intellectual disability, growth retardation, congenital heart disease, cleft lip and palate, genital malformation (micropenis), amblyopia, thymic dysplasia and hearing impairment...
January 5, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28074821/acyanotic-congenital-heart-disease-and-transesophageal-echocardiography
#11
REVIEW
Rupa Sreedhar
The spectrum of congenital heart disease (CHD) seen in the adult varies widely. Malformations range from mild anomalies requiring no intervention to extremely complex pathologies characterized by the presence of multiple coexistent defects. Echocardiography represents the primary noninvasive imaging modality in the assessment of these lesions. The transesophageal approach expands the applications of echocardiography by allowing the acquisition of anatomic and functional information that may not be obtainable by transthoracic imaging...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28074532/pathogenesis-of-developmental-anomalies-of-the-central-nervous-system-induced-by-congenital-cytomegalovirus-infection
#12
REVIEW
Hideya Kawasaki, Isao Kosugi, Shiori Meguro, Toshihide Iwashita
In humans, the herpes virus family member cytomegalovirus (CMV) is the most prevalent mediator of intrauterine infection-induced congenital defect. Central nervous system (CNS) dysfunction is a distinguishing symptom of CMV infection, and characterized by ventriculoencephalitis and microglial nodular encephalitis. Reports on the initial distribution of CMV particles and its receptors on the blood brain barrier (BBB) are rare. Nevertheless, several factors are suggested to affect CMV etiology. Viral particle size is the primary factor in determining the pattern of CNS infections, followed by the expression of integrin β1 in endothelial cells, pericytes, meninges, choroid plexus, and neural stem progenitor cells (NSPCs), which are the primary targets of CMV infection...
January 10, 2017: Pathology International
https://www.readbyqxmd.com/read/28074379/neuroimaging-findings-of-congenital-zika-virus-infection-a-pictorial-essay
#13
Mohammad Zare Mehrjardi, Andrea Poretti, Thierry A G M Huisman, Heron Werner, Elham Keshavarz, Edward Araujo Júnior
Zika virus (ZIKV) is a mosquito-borne arbovirus from the Flaviviridae family. It had caused several epidemics since its discovery in 1947, but there was no significant attention to this virus until the recent outbreak in Brazil in 2015. The main concern is the causal relationship between prenatal ZIKV infection and congenital microcephaly, which has been confirmed recently. Moreover, ZIKV may cause other central nervous system abnormalities such as brain parenchymal atrophy with secondary ventriculomegaly, intracranial calcification, malformations of cortical development (such as polymicrogyria, and lissencephaly-pachygyria), agenesis/hypoplasia of the corpus callosum, cerebellar and brainstem hypoplasia, sensorineural hearing-loss, and ocular abnormalities as well as arthrogryposis in the infected fetuses...
January 10, 2017: Japanese Journal of Radiology
https://www.readbyqxmd.com/read/28069620/prenatal-exposure-to-antiepileptic-drugs-and-use-of-primary-healthcare-during-childhood-a-population-based-cohort-study-in-denmark
#14
Anne Mette Würtz, Dorte Rytter, Claus Høstrup Vestergaard, Jakob Christensen, Mogens Vestergaard, Bodil Hammer Bech
OBJECTIVE: Prenatal exposure to antiepileptic drugs (AEDs) has been associated with adverse outcomes in the offspring such as congenital malformations and neuropsychiatric disorders. The objective of this study was to investigate whether prenatal exposure to AEDs is also associated with more frequent use of primary healthcare during childhood. DESIGN: Population-based cohort study. SETTING: Nationwide national registers in Denmark. PARTICIPANTS: All live-born singletons in Denmark during 1997-2012 identified in the Danish National Patient Register and followed until 31 December 2013 (n=963 010)...
January 5, 2017: BMJ Open
https://www.readbyqxmd.com/read/28069378/role-of-n-glycosylation-on-zika-virus-e-protein-secretion-viral-assembly-and-infectivity
#15
M Mossenta, S Marchese, M Poggianella, J L Slon Campos, O R Burrone
Zika virus has rapidly spread reaching a global distribution pattern similar to that of dengue virus, and has been associated with serious neurological and developmental pathologies, like congenital malformation during pregnancy and Guillain-Barré syndrome. Sequence analysis of different clinical and laboratory isolates has shown the existence of mutants with loss of the conserved N-glycosylation motif on domain I of protein E that is common to all flaviviruses. We found that loss of E N-linked glycosylation leads to compromised expression and secretion of E ectodomain from mammalian cells...
January 6, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28067166/stem-cell-genetic-therapy-for-fanconi-anemia-a-new-hope
#16
Helmut Hanenberg, Katharina Roellecke, Constanze Wiek
Fanconi anemia (FA) is a rare inherited DNA disorder clinically characterized by congenital malformations, progressive bone marrow failure, and cancer susceptibility. Due to a strong survival advantage of spontaneously corrected 'normal' hematopoietic stem cells (HSCs) in a few patients, FA is considered a model disorder for genetic correction of autologous stem cells, where genetically corrected stem cells and their progeny have a strong in vivo selective advantage, ultimately leading to normal hematopoiesis...
January 9, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28066618/tracheal-and-bronchial-stenoses-and-other-obstructive-conditions
#17
REVIEW
Claudia Schweiger, Aliza P Cohen, Michael J Rutter
Although tracheal stenosis and bronchial stenosis are relatively rare in the pediatric population, they are both associated with significant morbidity and mortality. While most cases of congenital tracheal stenosis in children present as complete tracheal rings (CTRs), other congenital tracheal obstructions are also encountered in clinical practice. In addition, acquired obstructive tracheal conditions stemming from endotracheal trauma or previous surgical interventions may occur. Many affected children also have associated cardiovascular malformations, further complicating their management...
November 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28064423/pathophysiology-diagnosis-and-management-of-glaucoma-associated-with-sturge-weber-syndrome
#18
REVIEW
Usman Javaid, Muhammad Hassaan Ali, Samreen Jamal, Nadeem Hafeez Butt
PURPOSE: Sturge-Weber syndrome (SWS), also known as encephalotrigeminal angiomatosis, is a condition which includes leptomeningeal hemangioma, facial angiomatosis or nevus flammeus, and ocular changes. SWS can lead to severe complications of anterior segment involving conjunctiva and eyelids, whereas posterior segment of the eye may also be affected by diffuse choroidal hemorrhages. This article was written with the objectives to determine the pathophysiology, diagnosis, and treatment of glaucoma associated with this rare and challenging disorder...
January 7, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28064298/case-report-of-a-chest-wall-cystic-hygroma-in-a-teenager
#19
K Aimanan, M P Putera, L G Chew, T Ramesh, M I Muhd Azim, B Badmanaban
Cystic hygroma or cystic lymphangioma is a congenital malformation of lymphatic origin. Their occurrence on the chest wall is very rare, and they progressively grow with age infiltrating into the local tissues, around muscle fibers and nerves, making them difficult and hazardous to remove. There are various treatment modalities of such lesion. Based on the literature surgical excision is the preferred treatment of choice in cystic hygroma because it gives a better cure rate compared to other modalities. We report a case successful excision of anterolateral chest wall cystic hygroma in a teenager in Hospital Serdang...
October 2016: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/28062680/mitral-valve-replacement-using-a-handmade-construct-in-an-infant
#20
Steven Bibevski, Alexandra Levy, Frank G Scholl
We recently reported the feasibility of a handmade left atrioventricular valve using decellularized extracellular matrix for 3 months in a failed repair of AV canal defect. We present the use of an extracellular matrix mitral valve for 9 months in an infant with an un-repairable congenitally malformed valve. The valve functioned perfectly without anticoagulation until the patient expired from non-cardiac complications of their fibrillin gene defect. This report adds further experience using valves made from extracellular matrix in the systemic ventricle both in terms of application and in terms of short-term durability of the construct...
January 6, 2017: Interactive Cardiovascular and Thoracic Surgery
keyword
keyword
4053
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"