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Congenital structure abnormality

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https://www.readbyqxmd.com/read/28902362/histone-lysine-methylation-and-congenital-heart-disease-from-bench-to-bedside-review
#1
Xin Yi, Xuejun Jiang, Xiaoyan Li, Ding-Sheng Jiang
Histone post-translational modifications (PTM) as one of the key epigenetic regulatory mechanisms that plays critical role in various biological processes, including regulating chromatin structure dynamics and gene expression. Histone lysine methyltransferase contributes to the establishment and maintenance of differential histone methylation status, which can recognize histone methylated sites and build an association between these modifications and their downstream processes. Recently, it was found that abnormalities in the histone lysine methylation level or pattern may lead to the occurrence of many types of cardiovascular diseases, such as congenital heart disease (CHD)...
October 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28899882/chromosome-15-structural-abnormalities-effect-on-igf1r-gene-expression-and-function
#2
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia...
October 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28880978/quantitative-assessment-of-microstructural-changes-of-the-retina-in-infants-with-congenital-zika-syndrome
#3
Tomas S Aleman, Camila V Ventura, Milena M Cavalcanti, Leona W Serrano, Anastasia Traband, Akosua A Nti, Adriana L Gois, Vasco Bravo-Filho, Thayze T Martins, Charles W Nichols, Mauricio Maia, Rubens Belfort
Importance: A better pathophysiologic understanding of the neurodevelopmental abnormalities observed in neonates exposed in utero to Zika virus (ZIKV) is needed to develop treatments. The retina as an extension of the diencephalon accessible to in vivo microcopy with spectral-domain optical coherence tomography (SD-OCT) can provide an insight into the pathophysiology of congenital Zika syndrome (CZS). Objective: To quantify the microstructural changes of the retina in CZS and compare these changes with those of cobalamin C (cblC) deficiency, a disease with potential retinal maldevelopment...
September 7, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28879597/prenatal-congenital-vertical-talus-rocker-bottom-foot-a-marker-for-multisystem-anomalies
#4
Eva I Rubio, Nimisha Mehta, Anna R Blask, Dorothy I Bulas
BACKGROUND: Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. OBJECTIVE: The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding...
September 6, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28868301/dynamic-lumbosacral-magnetic-resonance-imaging-in-a-dog-with-tethered-cord-syndrome-with-a-tight-filum-terminale
#5
Steven De Decker, Vicky Watts, David M Neilson
A 1-year and 11-month- old English Cocker Spaniel was evaluated for clinical signs of progressive right pelvic limb lameness and urinary incontinence. Neurological examination was suggestive of a lesion localized to the L4-S3 spinal cord segments. No abnormalities were seen on magnetic resonance imaging (MRI) performed in the dog in dorsal recumbency and the hips in a neutral position and the conus medullaris ended halfway the vertebral body of L7. An MRI of the hips in extended and flexed positions demonstrated minimal displacement of the conus medullaris in the cranial and caudal directions, respectively...
2017: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/28865601/relationship-of-the-mthfd1-rs2236225-enos-rs1799983-cbs-rs2850144-and-ace-rs4343-gene-polymorphisms-in-a-population-of-iranian-pediatric-patients-with-congenital-heart-defects
#6
Mehri Khatami, Farzaneh Morteza Ratki, Saba Tajfar, Fatemeh Akrami
Congenital heart defects are structural cardiovascular malformations that arise from abnormal formation of the heart or major blood vessels during the fetal period. To investigate the association of 4 single nucleotide polymorphisms (SNPs) in the MTHFD1, eNOS, CBS and ACE genes, we evaluated their relationship with CHD in Iranian patients. In this case-control study, a total of 102 children with CHD and 98 control children were enrolled. Four SNPs including MTHFD1 G1958A, eNOS G894T, CBS C-4673G and ACE A2350G were genotyped by PCR-SSCP, Multiplex ARMS PCR and PCR-RFLP methods and confirmed by direct sequencing...
September 2017: Kaohsiung Journal of Medical Sciences
https://www.readbyqxmd.com/read/28862178/spectrum-of-prenatally-detected-central-nervous-system-malformations-neural-tube-defects-continue-to-be-the-leading-foetal-malformation
#7
Anjurani Siddesh, Geetika Gupta, Ram Sharan, Meenal Agarwal, Shubha R Phadke
BACKGROUND & OBJECTIVES: Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28861955/evaluating-biomechanical-properties-of-murine-embryos-using-brillouin-microscopy-and-optical-coherence-tomography
#8
Raksha Raghunathan, Jitao Zhang, Chen Wu, Justin Rippy, Manmohan Singh, Kirill V Larin, Giuliano Scarcelli
Embryogenesis is regulated by numerous changes in mechanical properties of the cellular microenvironment. Thus, studying embryonic mechanophysiology can provide a more thorough perspective of embryonic development, potentially improving early detection of congenital abnormalities as well as evaluating and developing therapeutic interventions. A number of methods and techniques have been used to study cellular biomechanical properties during embryogenesis. While some of these techniques are invasive or involve the use of external agents, others are compromised in terms of spatial and temporal resolutions...
August 2017: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/28832620/a-novel-splice-site-mutation-of-myosin-vi-in-mice-leads-to-stereociliary-fusion-caused-by-disruption-of-actin-networks-in-the-apical-region-of-inner-ear-hair-cells
#9
Yuta Seki, Yuki Miyasaka, Sari Suzuki, Kenta Wada, Shumpei P Yasuda, Kunie Matsuoka, Yasuhiro Ohshiba, Kentaro Endo, Rie Ishii, Hiroshi Shitara, Shin-Ichiro Kitajiri, Naomi Nakagata, Hirohide Takebayashi, Yoshiaki Kikkawa
An unconventional myosin encoded by the myosin VI gene (MYO6) contributes to hearing loss in humans. Homozygous mutations of MYO6 result in nonsyndromic profound congenital hearing loss, DFNB37. Kumamoto shaker/waltzer (ksv) mice harbor spontaneous mutations, and homozygous mutants exhibit congenital defects in balance and hearing caused by fusion of the stereocilia. We identified a Myo6c.1381G>A mutation that was found to be a p.E461K mutation leading to alternative splicing errors in Myo6 mRNA in ksv mutants...
2017: PloS One
https://www.readbyqxmd.com/read/28831547/developmental-visual-deprivation-long-term-effects-on-human-cone-driven-retinal-function
#10
Paolo Esposito Veneruso, Lucia Ziccardi, Giulia Magli, Vincenzo Parisi, Benedetto Falsini, Adriano Magli
PURPOSE: To assess whether infantile visual deprivation induced by developmental cataract may influence the cone-driven retinal function in humans. METHODS: A total of 14 patients with history of bilateral developmental cataract (DC), who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and orthoptic evaluations and best-corrected visual acuity measurement...
August 22, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28821295/coexistence-of-congenital-left-ventricular-aneurysm-and-prominent-left-ventricular-trabeculation-in-a-patient-with-ldb3-mutation-a-case-report
#11
Shengshuai Shan, Xiaoxiao He, Lin He, Min Wang, Chengyun Liu
BACKGROUND: The coexistence of congenital left ventricular aneurysm and abnormal cardiac trabeculation with gene mutation has not been reported previously. Here, we report a case of coexisting congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LIM domain binding 3 gene mutation. CASE PRESENTATION: A 30-year-old Asian man showed paroxysmal sinus tachycardia and Q waves in an electrocardiogram health check. There were no specific findings in physical examinations and serological tests...
August 19, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28817389/congenital-anomalies-of-the-optic-disc-insights-from-optical-coherence-tomography-imaging
#12
Karen W Jeng-Miller, Dean M Cestari, Eric D Gaier
PURPOSE OF REVIEW: Congenital anomalies of the optic nerve are rare but significant causes of visual dysfunction in children and adults. Accurate diagnosis is dependent on a thorough funduscopic examination, but can be enhanced by imaging information garnered from optical coherence tomography (OCT). We review common congenital optic nerve anomalies, including optic disc pit, optic nerve coloboma, morning glory disc anomaly, and hypoplasia of the optic nerve, review their systemic associations, and discuss insights from OCT imaging...
August 16, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28815050/a-case-of-azoospermia-in-a-non-destructive-testing%C3%A2-worker-exposed-to-radiation
#13
Jaechan Park, Sanggil Lee, Chulyong Park, Huisu Eom
BACKGROUND: Interest in radiation-related health problems has been growing with the increase in the number of workers in radiation-related jobs. Although an occupational level of radiation exposure would not likely cause azoospermia, several studies have reported the relation between radiation exposure and azoospermia after accidental or therapeutic radiation exposure. We describe a case of azoospermia in a non-destructive testing (NDT) worker exposed to radiation and discuss the problems of the related monitoring system...
2017: Annals of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28799037/three-dimensional-hdlive-imaging-of-an-umbilical-cord-cyst
#14
Eisuke Inubashiri, Naomi Nishiyama, Sayuri Tatedo, Hiina Minami, Atushi Saitou, Yukio Watanabe, Masaki Sugawara
Umbilical cord cysts (UCC) are a rare congenital malformation. Previous reports have suggested that the second- and third-trimester UCC may be associated with other structural anomalies or chromosomal abnormalities. Therefore, high-quality imaging is clinically important for the antenatal diagnosis of UCC and to conduct a precise anatomical survey of intrauterine abnormalities. There have been few reports of antenatal diagnosis of UCC with the conventional two- and three-dimensional ultrasonography. In this report, we demonstrate the novel visual depiction of UCC in utero with three-dimensional HDlive imaging, which helps substantially with prenatal diagnosis...
August 10, 2017: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/28796762/notes-from-the-field-zika-virus-associated-neonatal-birth-defects-surveillance-texas-january-2016-july-2017
#15
Noemi Borsay Hall, Kelly Broussard, Nicole Evert, Mark Canfield
On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies...
August 11, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28792795/diphallia-in-a-mixed-breed-puppy-case-report
#16
Rebecca Laube, Alysa Cook, Kevin Winkler
An 8 mo old intact male mixed-breed dog presented for diphallia with paraphimosis of the nonfunctional, accessory penis. Bloodwork, an abdominal ultrasound, and a positive contrast retrograde urethrogram were performed and revealed no other structural abnormalities. Surgical excision of the accessory penis was elected. This is one of three reported cases of diphallia in the dog in the English literature, but this is the only case in which no other congenital abnormalities were identified. The authors also review diphallia in both the veterinary and human literature...
August 9, 2017: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/28777859/-delineating-a-case-with-a-complex-karyotype-by-using-combined-genetic-techniques
#17
Ning Han, Lu Kuang, Bing Zhu, Liang Hua, Wanling Li
OBJECTIVE: To explore the pathogenesis of a child with growth retardation, liver damage and congenital heart disease. METHODS: G-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration. RESULTS: The child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28766718/left-ventricular-aneurysm-sudden-unexpected-deaths-in-a-29-year-old-man
#18
Supawon Srettabunjong
Left ventricular aneurysm (LVA) is an abnormal dilated heart structure, either congenital or acquired. LVA is a rare cardiac condition with no symptoms in most cases, thus occasionally diagnosed during investigations of other diseases. Its association with certain cardiac complications and sudden cardiac deaths has been reported. However, its role as a cause of sudden unexpected death is rare. The author reported a sudden cardiac death in a 29-year-old man with LVA. Without a significant coronary artery disease and known etiologies of LVA, such an abnormal heart structure in the present case was considered congenital LVA...
August 2, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28764265/semilobarholoprosencephaly-a-dreading-congenital-anomaly
#19
Bhushita B Lakhkar, Bhushan N Lakhkar, Bhavana B Lakhkar
Holoprosencephaly (HPE) is a group of structural abnormalities of brain that is an important cause of childhood mortality and morbidity. They usually occur due to impaired midline cleavage of embryonic forebrain i.e., failure of differentiation of the prosencephalon into the telecephalon and diencephalon. De Myer classified this anomaly ranging from alobar to semilobar and lobar type. It can be associated with microcephaly and midline facial anomalies. We present a case of semilobar holoprosencephaly with corpus callosal agenesis...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28761211/holt-oram-syndrome-a-rare-variant
#20
Binoy Shankar, Euden Bhutia, Dinesh Kumar, Sunil Kishore, Shakti Pad Das
Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic or absent radii, and first metacarpal to hypoplastic ulna and carpal bone anomalies. Cardiac involvement ranges from asymptomatic conduction disturbances to multiple structural defects...
July 2017: Iranian Journal of Medical Sciences
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