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Congenital Anomalies

journal
https://www.readbyqxmd.com/read/28425126/novel-sequence-variants-in-the-liph-and-lpar6-genes-underlies-autosomal-recessive-woolly-hair-hypotrichosis-in-consanguineous-families
#1
Farooq Ahmad, Salma Sharif, Muhammad Furqan Ubaid, Khadim Shah, Muhammad Nasim Khan, Muhammad Umair, Zahid Azeem, Wasim Ahmad
Autosomal-recessive woolly hair/hypotrichosis (ARWH/H) is a rare genetic disorder of hair caused by variants in the LIPH and LPAR6 genes. The disease is characterized by congenital tightly curled hair leading to sparse hair later in life. In the present report genetic characterization of three consanguineous families of Pakistani origin, displaying clinical features of ARWH/H, was performed. Haplotype and DNA sequence analysis of the LIPH gene revealed a novel homozygous nonsense variant (c.688C > T; p...
April 19, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28425110/neural-tube-defects-risk-factors-and-preventive-measures
#2
REVIEW
Atsuo Kondo, Takuya Matsuo, Nobuhito Morota, Atsuya S Kondo, Ikuyo Okai, Hiromi Fukuda
For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, which has resulted in a significant reduction in the prevalence of neural tube defects. In 2000, the Japanese government recommended folic acid 400 µg daily for young women of childbearing age and women who are planning to conceive...
April 19, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28419563/whole-exome-sequencing-identified-a-novel-single-base-pair-insertion-mutation-in-the-eys-gene-in-a-six-generation-family-with-retinitis-pigmentosa
#3
Jamil Amjad Hashmi, Maan Abdullah Albarry, Ahmed Almatrafi, Alia M Albalawi, Amir Mehmood, Sulman Basit
Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, identification of causative genes and mutations in known genes is challenging. This study was designed to identify the underlying genetic defect in a large extended Saudi family with multiple RP affected members. Fundus photography, Optical Coherence Tomography (OCT) and visual field perimetry were performed for affected individuals...
April 16, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28378426/a-prospective-study-on-fetal-posterior-cranial-fossa-assessment-for-early-detection-of-open-spina-bifida-at-11-13-weeks
#4
Semir Kose, Sabahattin Altunyurt, Pembe Keskinoglu
To test three measurements; brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark; cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment...
April 5, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28378377/survey-on-awareness-of-folic-acid-recognition-and-intake-by-female-students
#5
REVIEW
Takuya Matsuo, Yukiko Kagohashi, Yasuko Senga, Hiromi Fukuda, Keiko Shinozaki, Kumiko Takemori, Hiroki Otani, Atsuo Kondo
To reduce the risk of neural tube defects, studies have been conducted on female students of medical services, nutritional science, and nursery education that investigated the awareness of folic acid by using questionnaires. Many investigators have suggested the need to provide detailed information about the awareness of folic acid and knowledge about folic acid intake and neural tube defect risk reduction. The dietary habits of female students showed a positive correlation with their estimated folic acid intake, suggesting that improvements in dietary habits are associated with the consumption of folic acid...
April 5, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28378413/a-10q21-3q22-2-microdeletion-identified-in-a-patient-with-severe-developmental-delay-and-multiple-congenital-anomalies-including-congenital-heart-defects
#6
Keiko Shimojima, Nobuhiko Okamoto, Toshiyuki Yamamoto
Interstitial deletions in the 10q21.3q22.2 chromosomal region are rare. A de novo microdeletion in this region was identified in a patient with severe developmental delay and multiple congenital anomalies, including congenital heart defects. The identified 10.4-Mb deletion included 84 RefSeq genes. CTNNA3 and JMJD1C have been associated with cardiomyopathy and neurological impairments (autism and/or intellectual disability), respectively. Because there is no gene which shows one-to-one relation to clinical features observed in this patient, combinatory deletion of the genes in this region would be causative of the clinical features in this patient...
April 4, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28338248/surgical-strategy-for-apert-syndrome-retrospective-study-of-developmental-quotient-and-three-dimensional-computerized-tomography
#7
Shoichi Tomita, Takeshi Miyawaki, Yuichirou Nonaka, Shinsuke Sakai, Reiji Nishimura
There are many surgical techniques for craniosynostosis. However, the indications for and timing of surgery still remain unclarified. Most of the skull growth in craniosynostosis is completed in the first year, and the bone is strong enough to undergo distraction osteogenesis. However, previous reports showed that patients operated on before 1 year of age had better IQ than those operated later in life. This report aims to consider the best timing for cranial expansion and surgical strategy for Apert syndrome...
March 24, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28321935/a-novel-fbn1-mutation-in-a-family-with-inherited-marfan-syndrome-p-cys2672arg
#8
Arda Cetinkaya, Ali Karaman, Mehmet Burak Mutlu, Taner Yavuz
No abstract text is available yet for this article.
March 20, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28295633/neural-tube-closure-and-embryonic-metabolism
#9
REVIEW
Yoshifumi Yamaguchi, Hidenobu Miyazawa, Masayuki Miura
Neural tube closure (NTC) is an embryonic process during formation of the mammalian central nervous system. Disruption of the dynamic, sequential events of NTC can cause neural tube defects (NTD) leading to spina bifida and anencephaly in the newborn. NTC is affected by inherent factors such as genetic mutation or if the mother is exposed to certain environmental factors such as intake of harmful chemicals, maternal infection, irradiation, malnutrition, and inadequate or excessive intake of specific nutrients...
March 13, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28244241/folate-receptors-and-neural-tube-closure
#10
REVIEW
Hirotomo Saitsu
Neural tube defects (NTD) are among the most common human congenital malformations, affecting 0.5-8.0/1000 of live births. Human clinical trials have shown that periconceptional folate supplementation significantly decreases the occurrence of NTD in offspring. However, the mechanism by which folate acts on NTD remains largely unknown. Folate receptor (Folr) is one of the three membrane proteins that mediate cellular uptake of folates. Recent studies suggest that mouse Folr1 (formerly referred to as Fbp1) is essential for neural tube closure...
February 28, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28220546/novel-splice-site-mutation-in-eif2ak3-gene-causes-wolcott-rallison-syndrome-in-a-consanguineous-family-from-saudi-arabia
#11
Jumana Yousuf Al-Aama, Hams Saeed Al-Zahrani, Musharraf Jelani, Hesham Salih Sabir, Saad Abdullah Al-Saeedi, Saleem Ahmed
No abstract text is available yet for this article.
February 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28220539/a-contiguous-gene-deletion-neighboring-twist1-identified-in-a-patient-with-saethre-chotzen-syndrome-associated-with-neurodevelopmental-delay-possible-contribution-of-hdac9
#12
Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa
Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities. Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for SCS. Here, we report a 15-month-old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9-Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included...
February 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28185308/medical-cost-savings-in-sakado-city-and-worldwide-achieved-by-preventing-disease-by-folic-acid-fortification
#13
REVIEW
Yasuo Kagawa, Mami Hiraoka, Mitsuyo Kageyama, Yoshiko Kontai, Mayumi Yurimoto, Chiharu Nishijima, Kaori Sakamoto
The introduction of mandatory fortification of grains with folate in 1998 in the United States resulted in 767 fewer spina bifida cases annually and a cost savings of $603 million per year. However, far more significant medical cost savings result from preventing common diseases, including myocardial infarction, stroke, dementia and osteoporosis. A cost-effectiveness analysis showed a gain of 266,649 quality-adjusted life-years and $3.6 billion saved annually, mainly due to the reduction of cardiac infarction...
February 9, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28169463/relationship-between-epigenetic-regulation-dietary-habits-and-the-developmental-origins-of-health-and-disease-theory
#14
REVIEW
Kazuki Mochizuki, Natsuyo Hariya, Kazue Honma, Toshinao Goda
Environmental stressors during developmental stages are hypothesized to increase the risk of developing metabolic diseases such as obesity, type 2 diabetes, hypertension, and psychiatric diseases during later life. This theory is known as the Developmental Origins of Health and Disease (DOHaD). Recent studies suggest that accumulation of environmental stress, including during developmental stages, is internalized as acquired information designated as "epigenetic memory." This epigenetic memory is generally indicated as DNA methylation and histone modifications in the chromatin...
February 7, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28164378/a-patient-with-a-novel-purine-rich-element-binding-protein-a-pura-mutation
#15
Nobuhiko Okamoto, Hideto Nakao, Tetsuya Niihori, Yoko Aoki
There have been several reports on 5q31.3 microdeletion syndrome. The overlapping deleted region includes purine-rich element binding protein A (PURA), which encodes transcriptional activator protein Pur-α. Patients with PURA mutations show moderate to severe neurodevelopmental delay and learning disability. Neonatal hypotonia, respiratory insufficiency, feeding difficulties, and seizures are often seen. Dysmorphic features including myopathic faces are helpful as clinical signs of the diagnosis. We report a patient with a novel PURA mutation detected by whole-exome sequencing...
February 6, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28145600/neurological-manifestations-of-2q31-microdeletion-syndrome
#16
Nobuhiko Okamoto, Sadami Kimura, Keiko Shimojima, Toshiyuki Yamamoto
Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. We experienced a new patient with 2q31 microdeletion encompassing the HOXD gene cluster and some neighboring genes including the ZNF385B. The patient showed digital anomalies, growth failure, epileptic seizures, and intellectual disability...
February 1, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28266124/proposal-for-supplemental-intake-of-folic-acid-to-reduce-the-risk-of-neural-tube-defects
#17
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28079294/locus-on-chromosome-16-is-significantly-associated-with-increased-tendency-to-lose-pups-in-females-of-the-rr-sgn-inbred-mouse-strain
#18
Jun-Ichi Suto
Females of the inbred mouse strain RR/Sgn have an apparent tendency to lose pups during rearing. To identify genes underlying this abnormal maternal phenotype, we performed quantitative trait loci (QTL) mapping in 349 (C57BL/6 J × RR/Sgn) F1  × RR/Sgn backcross mice and identified one significant and one suggestive QTL on chromosomes 16 and 4, respectively. We assigned the gene symbol nurturing ability QTL 3 (Naq3) to the QTL on chromosome 16. Twenty of the 21 mothers who lost entire litters were homozygous for RR/Sgn allele at Naq3; i...
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27783870/magnetic-resonance-imaging-based-correlation-analysis-between-calcarine-sulcus-development-and-isolated-fetal-ventriculomegaly
#19
Hehong Li, Huiying Liang, Huiying Wu
Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricles, to assess if calcarine sulcus can also be used for fetal ventriculomegaly diagnosis. We conducted a retrospective analysis of the magnetic resonance imaging (MRI) data from 45 subjects with isolated mild fetal ventriculomegaly (IMVM)...
March 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/27644460/miller-dieker-syndrome-with-unbalanced-translocation-45-x-psu-dic-17-y-p13-p11-32-detected-by-fluorescence-in-situ-hybridization-and-g-banding-analysis-using-high-resolution-banding-technique
#20
Takashi Mishima, Michiko Watari, Yutaka Iwaki, Takumi Nagai, Miho Kawamata-Nakamura, Yukako Kobayashi, Satoko Fujieda, Mamoru Oikawa, Nobuhiro Takahashi, Mitsuaki Keira, Hiroshi Yoshida, Hidefumi Tonoki
Lissencephaly is one of the central nervous system anomalies of Miller-Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller-Dieker Syndrome postnatally. G banded chromosome analysis revealed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1-,RARA+, SRY+, DYZ3+) by G-banding analysis using high resolution banding technique...
March 2017: Congenital Anomalies
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