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Congenital Anomalies

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https://www.readbyqxmd.com/read/29935003/identification-and-association-of-recurrent-aloxe3-mutation-with-non-bullous-congenital-ichthyosiform-erythroderma-in-two-ethnically-distinct-pakistani-families
#1
Simeen Ber Rahman, Asif Mir, Nafees Ahmad, Syed Husnain Haider, Salman Akbar Malik, Muhammad Nasir
Non-bullous congenital ichthyosiform erythroderma (NCIE) is characterized by skin scaling with erythema. In this study, two Pakistani families with NCIE are genetically characterized through Whole Exome and Sanger sequencing to identify molecular basis of the disease. We identified a nonsense homozygous c.2026C>T mutation of ALOXE3, causing premature termination of the eLOX3 protein (p.Q676X). In silico studies predicted impaired enzymatic activity of the premature truncated eLOX3, leading to abnormal synthesis of specific hepoxilin derivatives, essential for epidermal barrier formation...
June 23, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29926512/potentially-effective-method-for-fetal-gender-determination-by-non-invasive-prenatal-testing-for-x-linked-disease
#2
Yoshiteru Noda, Takema Kato, Asuka Kato, Haruki Nishizawa, Jun Miyazaki, Mayuko Ito, Sumire Terasawa, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Examination of maternal plasma cell free DNA (cfDNA) for noninvasive prenatal testing for fetal trisomy is a highly effective method for pregnant women at high risk. This can be also applied to fetal gender determination in female carriers of severe X-linked disease. PCR analysis is a relatively simpler and less expensive method of detecting Y chromosome-specific repeats (Y-specific PCR; YSP), but is limited by the risk of false-negative results. To address this, we have developed a combined strategy incorporating YSP and an estimation of the fetal DNA fraction...
June 21, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29926511/long-term-natural-history-of-an-adult-patient-with-distal-22q11-2-deletion-from-lcr-d-to-e
#3
Mari Matsuo, Toshiyuki Yamamoto, Kayoko Saito
Typical 22q11.2 microdeletion syndrome is the most common submicroscopic chromosomal deletion syndrome. The chromosomal 22q11.2 deletion region involves a complex genomic architecture with eight low copy repeats (LCRs) (named LCR22-A to H) (Shaikh et al. 2001). Approximately 90% of cases with 22q11.2 microdeletion have a common 3-Mb deletion, spanning LCR22-A to D, resulting from LCR mediated non-allelic homologous recombination (Shaikh et al. 2001). In contrast, a distal 22q11.2 deletion mediated by LCR22-D to H has been recognized as a different clinical entity (Ben-Shachar et al...
June 21, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29900604/novel-compound-heterozygous-and-homozygous-variants-of-laminin-subunit-%C3%AE-3-gene-underlie-non-herlitz-junctional-epidermolysis-bullosa-in-two-paternal-half-brothers-from-saudi-arabia
#4
Hams S Al-Zahrani, Saeed Al-Tala, Hussein S A Mohamoud, Bandar A Al-Shehri, Saeed Al-Fadhel, Ali Al-Qurashi, Ahmad Al-Bishri, Jumana Y Al-Aama, Changsoo Kang, Regina C Betz, Musharraf Jelani
No abstract text is available yet for this article.
June 13, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29900595/preconception-folic-acid-supplementation-use-and-the-occurrence-of-neural-tube-defects-in-japan-a-nationwide-birth-cohort-study-of-the-japan-environment-and-children-s-study
#5
Hidekazu Nishigori, Taku Obara, Toshie Nishigori, Mami Ishikuro, Kasumi Sakurai, Tetsuro Hoshiai, Masatoshi Saito, Ikuma Fujiwara, Takahiro Arima, Kunihiko Nakai, Shinichi Kuriyama, Nariyasu Mano, Hirohito Metoki, Nobuo Yaegashi
We evaluated the relationship between preconception folic acid supplementation and the occurrence of neural tube defects (NTDs) in offspring, using data from the Japan Environment and Children's Study (a nationwide prospective birth cohort study) database. Of 92 269 participants with single pregnancies, 74 cases (offspring or fetuses) had NTDs, including 32 cases of spina bifida, 24 cases of anencephaly, and 19 cases of encephalocele. A total of 7634 participants (8.27%) used preconception folic acid supplementation, and of these, 621 (0...
June 13, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29896840/17q21-32-q22-deletion-in-a-girl-with-osteogenesis-imperfecta-tricho-dento-osseous-syndrome-and-intellectual-disability
#6
Takayuki Yokoi, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
No abstract text is available yet for this article.
June 12, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29845695/rare-urogenital-anomaly-variant-with-a-separated-didelphic-uterus-and-ipsilateral-renal-agenesis-without-hemivagina-a-case-report
#7
Norikazu Watanabe, Hideki Igarashi, Jun Matsukawa, Koki Matsuo, Satoru Nagase
No abstract text is available yet for this article.
May 29, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29845660/novel-mutation-in-efcab7-alters-expression-and-interaction-of-ellis-van-creveld-ciliary-proteins
#8
Tran Quynh Nhu Nguyen, Nguyen Minh Thien Doan, Huu Tung Trinh, Masashi Mizuguchi
No abstract text is available yet for this article.
May 29, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29732662/survival-in-double-aneuploidy-involving-trisomy-18-and-sex-chromosome-trisomy-a-case-report-of-a-27-month-old-child-and-a-review-of-the-literature
#9
Takahide Watabe, Hiroshi Koga
No abstract text is available yet for this article.
May 7, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29722137/effects-of-the-y-chromosome-and-the-dominant-hemimelia-mutation-on-the-morphology-of-the-mouse-mandible
#10
Jun-Ichi Suto
The aims of this study were to test whether the Y-chromosome and the autosomal dominant hemimelia (Dh) mutation can affect mandible morphology in mice. I analyzed mandible size and shape using landmark-based geometric morphometrics in 16 DH-Chr Y@ -+/+ (@ represents one of the inbred strain names) strains and observed significant differences in mandible size. The largest mandible was identified in strain DH-Chr YC3H and the smallest in strain DH-Chr YKK . Canonical variate and discriminant function analyses suggested that the mandible shapes of strains DH-Chr YC3H and DH-Chr YKK differed from those of the other strains...
May 2, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29704261/further-evidence-for-causation-of-ischiospinal-dysostosis-by-a-pathogenic-variant-in-bmper-and-expansion-of-the-phenotype
#11
Smrithi Salian, Sheela Nampoothiri, Anju Shukla, Katta M Girisha
No abstract text is available yet for this article.
April 27, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29691907/investigation-of-maxillofacial-morphology-and-oral-characteristics-with-turner-syndrome-and-early-mixed-dentition
#12
Nozomi Ahiko, Yoshiyuki Baba, Michiko Tsuji, Reiko Horikawa, Keiji Moriyama
Turner syndrome is associated with an X chromosome abnormality in women and is characterized by infantilism, congenital webbed neck, and cubitus valgus. The aim of this study was to determine the maxillofacial morphology and oral characteristics of Japanese girls (mean age, 8.5 years) with Turner syndrome and early mixed dentition. Lateral cephalograms obtained at the first visit were used to analyze maxillofacial morphology. Oral characteristics were identified using orthopantomograms, intraoral photographs, and study casts...
April 25, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29802726/association-between-a-common-missense-variant-in-loxl3-gene-and-the-risk-of-non-syndromic-cleft-palate
#13
Mohammad Faisal J Khan, Julian Little, Peter A Mossey, Régine P M Steegers-Theunissen, Martina Bonsi, Rita Bassi Andreasi, Michele Rubini
To investigate possible association between functional common variants in the lysyl oxidase like 3 gene and non-syndromic cleft palate we selected a common missense variant p.Ile615Phe (rs17010021), which was predicted to have a probably damaging effect on the lysyl oxidase like 3 enzyme. We genotyped 258 non-syndromic cleft palate case-parent triads of European origin and tested genetic association using the transmission disequilibrium test and log-linear regression analyses of genotypic relative risks and of parent-of-origin effects...
July 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29381232/categorization-of-fetal-external-findings-in-developmental-toxicology-studies-by-the-terminology-committee-of-the-japanese-teratology-society
#14
Yuko Izumi, Yojiro Ooshima, Kazuhiro Chihara, Michio Fujiwara, Yoshihiro Katsumata, Kohei Shiota
Categorization of fetal external findings in common laboratory animals, intended to make the agreement at Berlin Workshop in 2014 more practical, was proposed by the Terminology Committee of the Japanese Teratology Society at the Workshop in the 55th Japanese Teratology Society Annual Meeting in 2015. In the Workshop, 73 external findings, which had been categorized as "Gray zone" anomalies but not as "Malformation" or "Variation" in the 2014 Berlin Workshop, were discussed and classified as Malformation, "Non-structural abnormality," Variation, and "Not applicable...
May 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29266424/repairability-of-skeletal-alterations-induced-by-sodium-valproate-in-rats
#15
Yuka Kirihata, Yoshiki Ban, Chiaki Nakamori, Hironori Takagi, Tomonori Hashimoto, Shunsuke Tsutsumi
The present study aimed at examining postnatal repairability of sodium valproate-induced skeletal alterations in rats. Sodium valproate (400 mg/kg) or the vehicle (distilled water) was orally administrated to pregnant Sprague-Dawley rats from gestation days 9 to 11. Fetuses and pups were obtained on gestation day 21 and postnatal day 11, respectively, and their skeletons were stained with Alizarin red S and Alcian blue and examined. Sodium valproate-induced costal and vertebral alterations in the fetuses included discontinued rib cartilage, fused rib, full or short supernumerary rib, bipart ossification of thoracic centrum, supernumerary lumbar vertebrae, and lumbarization...
May 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28976018/extracranial-outflow-of-particles-solved-in-cerebrospinal-fluid-fluorescein-injection-study
#16
Takuya Akai, Toshihisa Hatta, Hiroki Shimada, Keiji Mizuki, Nae Kudo, Taizo Hatta, Hiroki Otani
Cerebrospinal fluid is thought to be mainly absorbed into arachnoid granules in the subarachnoid space and drained into the sagittal sinus. However, some observations such as late outbreak of arachnoid granules in fetus brain and recent cerebrospinal fluid movements study by magnetic resonance images, conflict with this hypothesis. In this study, we investigated the movement of cerebrospinal fluid in fetuses. Several kinds of fluorescent probes with different molecular weights were injected into the lateral ventricle or subarachnoid space in mouse fetuses at a gestational age of 13 days...
May 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28796911/re-evaluation-of-lung-to-thorax-transverse-area-ratio-immediately-before-birth-in-predicting-postnatal-short-term-outcomes-of-fetuses-with-isolated-left-sided-congenital-diaphragmatic-hernia-a-single-center-analysis
#17
Saki Kido, Nobuhiro Hidaka, Yuka Sato, Yasuyuki Fujita, Kina Miyoshi, Kouji Nagata, Tomoaki Taguchi, Kiyoko Kato
We aimed to investigate whether the lung-to-thorax transverse area ratio (LTR) immediately before birth is of diagnostic value for the prediction of postnatal short-term outcomes in cases of isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed the cases of fetal isolated left-sided CDH managed at our institution between April 2008 and July 2016. We divided the patients into two groups based on LTR immediately before birth, using a cut-off value of 0.08. We compared the proportions of subjects within the two groups who survived until discharge using Fisher's exact test...
May 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28787104/coffin-siris-syndrome-and-cardiac-anomaly-with-a-novel-sox11-mutation
#18
Nobuhiko Okamoto, Eiji Ehara, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto
Coffin-Siris syndrome (CSS) is characterized by growth deficiency, intellectual disability, microcephaly, dysmorphic features, and hypoplastic nails of the fifth fingers and/or toes. Variants in the genes encoding subunits of the BAF complex as well as in SOX11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. We report a new patient with a novel SOX11 mutation. He showed the CSS phenotype and coarctation of the aorta. Sox11 is known to be associated with cardiac outflow development in mouse studies...
May 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/28745802/progressive-subglottic-stenosis-in-a-child-with-pallister-killian-syndrome
#19
Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, Tomozumi Takatani, Nobuhiko Okamoto, Gen Nishimura, Mitsuhiro Kato, Naoki Shimojo
Pallister-Killian syndrome (PKS) is rare genetic disorder caused by tetrasomy 12p mosaicism with supernumerary isochromosome 12p that manifests with intellectual disability, craniofacial dysmorphism, and epilepsy. Although PKS presents as a multisystem morphological defect, respiratory system involvement is rare, except for diaphragmatic hernia. We are the first to report a case of PKS with progressive subglottic stenosis. Subglottic stenosis is a potentially lethal condition due to severe respiratory obstruction and difficult intubation; therefore, further accumulation of cases is required to assess the causal link between PKS and subglottic stenosis...
May 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29665137/morphological-development-of-baculum-and-forelimb-second-to-fourth-digit-ratio-in-mice
#20
Minami Fuse, Kazuhiko Sawada
No abstract text is available yet for this article.
April 17, 2018: Congenital Anomalies
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