journal
https://read.qxmd.com/read/36680564/3-d-printed-bionic-ear-and-microtia-anotia-medical-and-forensic-implications
#61
REVIEW
Deepika Rani, Nandini Chitara, Tanuj Kanchan, Kewal Krishan
Advances in science and technology result in continuous upgrading of the medical and clinical fields. These upgrades have been beneficial to many patients suffering from congenital and developmental diseases causing compromised functionality as well as the structural integrity of the affected organs. One such congenital anomaly is the microtia-anotia spectrum that results in deformities of the external ear, affecting the hearing capability of an individual. The collaboration and integration of electronics in human biology are exemplified by the development of 3D printed cyborg bionic ear from the patient's own cells, which is implanted to ameliorate microtia and improve the patient's hearing capacity...
January 21, 2023: Congenital Anomalies
https://read.qxmd.com/read/36637081/familial-caf%C3%A3-au-lait-macules-associated-with-in-frame-deletion-of-nf1-p-met992del-mimicking-legius-syndrome
#62
JOURNAL ARTICLE
Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki
No abstract text is available yet for this article.
January 13, 2023: Congenital Anomalies
https://read.qxmd.com/read/36116114/fetoscopic-surgery-for-amniotic-band-syndrome-case-series
#63
JOURNAL ARTICLE
Şükran Doğru, Ali Acar
We aimed to evaluate the fetoscopic procedure indications, procedure-related complications, and neonatal outcomes in cases diagnosed with amniotic band syndrome (ABS). Stage II and III cases according to Hüsler classification were included for fetoscopic surgery. Scissors were used to release the amniotic band in six cases, and a diode laser was used in one case. A single entry was made in all cases. The majority of the children acquired a functional limb (71.4%). Fetal morbidity was mainly linked to the consequences of preterm premature rupture of the membranes (57...
January 2023: Congenital Anomalies
https://read.qxmd.com/read/36116097/paper-box-fixation-for-femur-fractures-in-an-infant-with-osteogenesis-imperfecta
#64
JOURNAL ARTICLE
Takeshi Sato, Satsuki Nakano, Arihiko Kanaji, Tomohiro Ishii, Tomonobu Hasegawa
No abstract text is available yet for this article.
January 2023: Congenital Anomalies
https://read.qxmd.com/read/36573317/complementary-mrna-expression-of-enzymes-producing-nitric-oxide-and-prostaglandin-in-ductus-arteriosus-with-respect-to-their-role-in-maintaining-patency
#65
JOURNAL ARTICLE
Rei Yamana, Shogo Kadota, Kazuaki Ishii, Takehito Suzuki, Yoko Miyazaki, Kazuaki Tanaka, Makoto Usami, Tatsuya Takizawa
mRNA expression of molecules related to the activity of nitric oxide or prostaglandin E2, the critical regulators maintaining the ductus arteriosus patency, was examined in rat ductus arteriosus at preterm (days 18.5 and 19.5 of pregnancy) and near term (days 20.5 and 21.5). The endothelial nitric oxide synthase mRNA level increased transiently at preterm and then decreased at near term. The cyclooxygenase 2 mRNA increased gradually from near-term to the term complementary to the reduced endothelial nitric oxide synthase mRNA...
December 27, 2022: Congenital Anomalies
https://read.qxmd.com/read/36517931/mouse-vaginal-development-with-lateral-enlargement-at-late-embryonic-stages-and-caudal-elongation-after-birth
#66
JOURNAL ARTICLE
Masayo Harada, Keiichi Akita
Müllerian ducts give rise to the oviducts, uterus, cervix, and vagina. During female reproductive tract development in mice, the bilateral Müllerian duct epithelium grows caudally until reaching the urogenital sinus epithelium. This is followed by further caudal growth with the reduction of the urogenital sinus epithelium. Finally, the vaginal epithelium of adult mice is entirely derived from the Müllerian duct epithelium. Here, we explored the mechanisms underlying mouse vaginal development via cell proliferation, apoptosis, and lineage analyses...
December 14, 2022: Congenital Anomalies
https://read.qxmd.com/read/36517460/late-onset-and-congenital-hearing-loss-detected-using-aabr-due-to-congenital-cytomegalovirus-infection-that-improved-with-valganciclovir
#67
JOURNAL ARTICLE
Chihiro Morimoto, Toshiya Nishikubo, Tadashi Nishimura, Tomoko Onishi, Masahiro Takeyama, Yumiko Uchida, Shintaro Otsuka, Toshiaki Yamanaka, Tadashi Kitahara
Congenital cytomegalovirus (cCMV) infection is the most common congenital viral infection and is the leading non-genetic cause of sensorineural hearing loss (SNLH) and an important cause of neurodevelopmental disabilities. Auto auditory brainstem response (AABR) is a simple hearing test and used for the purpose of neonatal hearing screening, but can use it for early detection hard of hearing within the study age of the model. We experienced 2 case of asymptomatic cytomegalovirus (CMV) infection in which congenital and late-onset hearing loss were diagnosed early with AABR, and hearing loss improved with valganciclovir (VGCV)...
December 14, 2022: Congenital Anomalies
https://read.qxmd.com/read/36517450/vocal-cord-paralysis-in-autosomal-dominant-spinal-muscular-atrophy-due-to-bicd2
#68
JOURNAL ARTICLE
Sachiko Matsui, Sota Iwatani, Naoya Morisada, Toshiki Takenouchi, Seiji Yoshimoto
No abstract text is available yet for this article.
December 14, 2022: Congenital Anomalies
https://read.qxmd.com/read/36371642/comparison-of-conventional-impression-making-and-intraoral-scanning-for-the-study-of-unilateral-cleft-lip-and-palate
#69
JOURNAL ARTICLE
Tomoyo Okazaki, Hitoshi Kawanabe, Kazunori Fukui
Patients with cleft lip and palate (CLP) encounter various problems, including disorders related to feeding, esthetics, and pronunciation. We compared two impression methods, conventional impression making and intraoral scanning, to study unilateral cleft lip and palate (UCLP). Patients with UCLP (n=7) were selected, and palatal impressions were taken by two steps: 1) impressions were obtained using an addition silicone rubber impression material, and a plaster model was prepared and 2) optical impressions were obtained using a desktop three-dimensional (3D) scanner and stereolithography (STL)...
November 12, 2022: Congenital Anomalies
https://read.qxmd.com/read/36039760/comparison-of-cdhsg-model-and-pco-2-in-predicting-mortality-risk-in-patients-with-congenital-diaphragmatic-hernia
#70
JOURNAL ARTICLE
Tülin Öztaş, Ahmet Dursun
Congenital diaphragmatic hernia (CDH) is one of the illnesses with high mortality and morbidity rates. The study aims to compare the Congenital Diaphragmatic Hernia Study Group (CDHSG) model and PCO2 in determining the mortality risk of CDH in the early postnatal period in neonates. The data of 35 patients who were treated CDH were analyzed retrospectively. The sex, gestational age, birth weight, delivery method, presence of chromosomal anomaly, congenital cardiac and other anomalies, pulmonary hypertension, the 5-min Apgar score, PCO2 values of blood gas in the first 24 h, mode of ventilation were recorded...
November 2022: Congenital Anomalies
https://read.qxmd.com/read/35942537/caroli-s-syndrome-with-autosomal-recessive-polycystic-kidney-disease-on-fetal-mri-a-case-report
#71
JOURNAL ARTICLE
Vanita Baberwal, Anjali Prakash, Anju Garg, Sapna Singh, Sangeeta Gupta
No abstract text is available yet for this article.
November 2022: Congenital Anomalies
https://read.qxmd.com/read/35941518/preoperative-mri-presentations-of-herlyn-werner-wunderlich-syndrome
#72
REVIEW
Heng Zhang, Ying Zheng, Gang Ning, Chuan Fu, Li Bao
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare complex female urogenital anomaly, with diverse anatomical presentations. Due to obstruction, most patients with HWW syndrome need to be addressed surgically. The treatment strategy should be tailored to the different anatomical variants of each patient. Therefore, a detailed and comprehensive preoperative evaluation is needed. In this review, we describe the embryology and clinical manifestations of HWW syndrome and discuss and illustrate its diverse preoperative magnetic resonance imaging presentations to guide clinical treatment...
November 2022: Congenital Anomalies
https://read.qxmd.com/read/36151603/associated-congenital-anomalies-and-syndromes-of-248-infants-with-orofacial-clefts-born-between-2011-and-2014-in-the-japan-environment-and-children-s-study
#73
JOURNAL ARTICLE
Yukihiro Sato, Eiji Yoshioka, Yasuaki Saijo, Yasuhito Kato, Ken Nagaya, Satoru Takahashi, Yoshiya Ito, Sumitaka Kobayashi, Yu Ait Bamai, Keiko Yamazaki, Sachiko Itoh, Chihiro Miyashita, Atsuko Ikeda-Araki, Reiko Kishi
This study aimed to document the complication status of infants with orofacial clefts born between 2011 and 2014 in Japan. This was a descriptive study using data from the Japan Environment and Children's Study. Among 103,060 pregnancies, 248 infants with orofacial clefts were included (livebirth, 239; stillbirth, 4; miscarriage, 5). The items of interest were complication status of orofacial clefts: isolated (typical orofacial clefts only); multi-malformed (orofacial clefts with unrelated major defects); syndromic (orofacial clefts with a syndrome or a chromosomal defect)...
September 23, 2022: Congenital Anomalies
https://read.qxmd.com/read/36116034/imaging-characteristics-of-the-gubernaculum-tracts-in-successional-teeth-related-to-deciduous-fused-teeth-on-ct
#74
JOURNAL ARTICLE
Masafumi Oda, Ikuko Nishida, Katsura Saeki, Tatsurou Tanaka, Shinobu Matsumoto-Takeda, Nao Wakasugi-Sato, Manabu Habu, Yutaro Nagasaki, Daigo Yoshiga, Masaaki Sasaguri, Yasuhiro Morimoto
The purpose of this study was to elucidate the imaging characteristics of the gubernaculum tracts in successional teeth related to fused deciduous teeth on computed tomography. The imaging findings of 15 gubernaculum tracts in successional teeth related to fused deciduous teeth were retrospectively analyzed using cone-beam computed tomography or multi-detector computed tomography. In cases without a congenitally defected successor, the two gubernaculum tracts of two successional teeth related to fused deciduous teeth were fused into one...
September 18, 2022: Congenital Anomalies
https://read.qxmd.com/read/35751443/external-ear-anatomy-and-variations-in-neonates
#75
JOURNAL ARTICLE
Saadet Erdem, Zeliha Fazliogullari, Ahmet Ural, Ahmet Kagan Karabulut, Nadire Unver Dogan
It is aesthetically important that the auricle has a natural and beautiful shape. The sizes, position and symmetry of normal auricle are used for different purposes in different disciplines. A deformation in the auricle of neonates and its size or location on the face may indicate a possible anomaly. The aim of this study is to investigate the normal sizes, anomaly types, anomaly rates and the relationship between hearing screening test results and auricular anomaly of the neonatal auricle. The length, width, angle, and distance measurements of the auricle were made in neonates (n = 550)...
September 2022: Congenital Anomalies
https://read.qxmd.com/read/35750642/intra-abdominal-umbilical-vein-varix-in-a-neonate-with-polysyndactyly
#76
JOURNAL ARTICLE
Steven Tessier, Jennifer Canning, Santo Longo, Dianne Jacobetz
No abstract text is available yet for this article.
September 2022: Congenital Anomalies
https://read.qxmd.com/read/35662261/critical-appraisal-of-droplet-digital-polymerase-chain-reaction-application-for-noninvasive-prenatal-testing
#77
REVIEW
Dolat Singh Shekhawat, Charu Sharma, Kuldeep Singh, Pratibha Singh, Abhishek Bhardwaj, Payal Patwa
Maternal-fetal medicine (FM) is currently a highly demanding branch and is gaining importance as increasing number of genetic disorders rise in incidence. Prenatal testing helps to detect such abnormalities that could affect the health status of the developing fetus like birth defects or genetic disorders. Considering the rising trend of genetic disorders, there is a need for a highly sensitive way of noninvasive prenatal testing (NIPT) that may reduce the incidence of unnecessary invasive procedures and iatrogenic fetal loss...
September 2022: Congenital Anomalies
https://read.qxmd.com/read/35941838/congenital-cytomegalovirus-infection-with-brainstem-hemorrhage-and-polymicrogyria-necropsic-and-histopathological-findings
#78
JOURNAL ARTICLE
Javier Arredondo Montero, Mónica Bronte Anaut, María Cristina Caballero Martínez, Maria Pilar Fernández Seara, Nerea Martín-Calvo
Congenital cytomegalovirus (CMV) infection can cause severe neurological sequelae or even fetal death. We present a 17-year-old pregnant woman with fetal CMV infection, leading to voluntary termination of pregnancy. Fetopsy demonstrated a brainstem hemorrhage and focal polymicrogyria. CMV inclusions were observed in the lung, liver, thyroid, pancreas, kidneys, adrenal, placenta, and central nervous system. Intracranial hemorrhage is a rare finding in the context of congenital CMV infection, with isolated brainstem hemorrhage being an exceptional form of presentation...
August 8, 2022: Congenital Anomalies
https://read.qxmd.com/read/35938446/antenatal-diagnosis-of-congenital-surgical-anomalies-a-call-for-wider-use-in-low-middle-income-countries
#79
LETTER
Nilesh Tank, Benjamin Martin, Naomi Wright, Tahmina Banu, Kokila Lakhoo
No abstract text is available yet for this article.
August 8, 2022: Congenital Anomalies
https://read.qxmd.com/read/35933592/two-cases-of-22q11-2-deletion-syndrome-with-decreased-serum-calcium-during-recovery-following-thyrotoxicosis
#80
JOURNAL ARTICLE
Shota Hiroshima, Chihiro Taniguchi, Mika Inoue, Hirohito Sone, Keisuke Nagasaki
No abstract text is available yet for this article.
August 6, 2022: Congenital Anomalies
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