journal
https://read.qxmd.com/read/37503819/odontoma-and-other-congenital-dental-anomalies-implications-for-forensic-identification
#41
REVIEW
Nandini Chitara, Deepika Rani, Tanuj Kanchan, Kewal Krishan
Forensic odontology plays a crucial role in establishing the identity in mass disasters and criminal cases with high accuracy. Dental anomalies and features help in such situations. Congenital and developmental dental anomalies can be easily documented to establish distinctive and individualistic characteristics of an individual. The location, number of teeth involved, and the type of anomaly vary between individuals. Similarly, dental malformations also assist greatly in the identification process. Many types of dental anomalies have been studied in the past for their individualistic characteristics in forensic examinations...
July 28, 2023: Congenital Anomalies
https://read.qxmd.com/read/37277212/perinatal-diagnosis-of-congenital-urogenital-sinus-abnormality
#42
JOURNAL ARTICLE
Riccardo Fiorentino, Saverio La Bella, Valentina Chiavaroli, Chiara Cauzzo, Simona Di Credico, Maria Enrica Miscia, Giuseppe Lauriti, Gabriele Lisi, Francesco Chiarelli, Susanna Di Valerio
Anomalies of the urogenital sinus, which is a transient feature of the early human embryological development, are rare birth defects. Urogenital sinus abnormalities commonly present as pelvic masses, hydrometrocolpos, or ambiguous genitalia and most commonly occur within the context of congenital adrenal hyperplasia. Anomalies of the urogenital sinus requires surgical repair. We experienced a case of a female newborn with congenital urogenital sinus abnormality in which the early diagnosis helped us to prevent complications by decompressing the vagina soon after birth...
June 5, 2023: Congenital Anomalies
https://read.qxmd.com/read/37269175/prevention-of-cleft-lip-and-or-palate-in-a-j-mice-by-licorice-solution
#43
JOURNAL ARTICLE
Ichinnorov Chimedtseren, Teruyuki Niimi, Makoto Inoue, Hiroo Furukawa, Hideto Imura, Katsuhiro Minami, Ariuntuul Garidkhuu, Anar-Erdene Gantugs, Nagato Natsume
Cleft lip and/or palate anomalies (CL ± P) are the most frequent birth defects affecting the orofacial region in humans. Although their etiology remains unclear, the involvement of environmental and genetic risk factors is known. This observational study aimed to investigate how the use of  crude drugs with estrogen activity influenced an animal model's ability to prevent CL ± P. A/J mice were randomly divided into six experimental groups. Five of these groups consumed a drink containing crude drug licorice root extract, with the following weights attributed to each group: 3 g in group I, 6 g in group II, 7...
June 3, 2023: Congenital Anomalies
https://read.qxmd.com/read/37191119/novel-variants-in-the-pax6-gene-related-to-isolated-aniridia
#44
JOURNAL ARTICLE
Katarzyna Kuchalska, Anna Wawrocka, Maciej R Krawczynski
Aniridia, which is a rare congenital defect of the eye, consists of iris hypoplasia or aplasia, and additional ocular abnormalities. It is most commonly caused by autosomal dominant PAX6 gene mutations. However, in about 30% of cases, it is associated with chromosomal rearrangements in the 11p13 region. The aim of this study was to identify the potential PAX6 gene variants, which could cause the isolated aniridia. Eight patients with isolated aniridia were included in this study. MLPA analysis allowed in the past to exclude large structural rearrangements of the PAX6 and adjacent genes like WT1...
May 16, 2023: Congenital Anomalies
https://read.qxmd.com/read/37128664/a-novel-homozygous-splice-site-variant-in-cers3-causes-autosomal-recessive-congenital-ichthyosis
#45
JOURNAL ARTICLE
Hamadia Jan, Naveed Wasif, Syed Kamran-Ul-Hassan Naqvi, Imran Ullah, Wasim Ahmad
No abstract text is available yet for this article.
May 1, 2023: Congenital Anomalies
https://read.qxmd.com/read/36916226/endoscopic-surgery-under-tubeless-anesthesia-and-spontaneous-breathing-for-a-congenital-laryngeal-web-in-an-infant-a-case-report
#46
JOURNAL ARTICLE
Michele Gaffuri, Ludovica Battilocchi, Domenico di Furia, Simona Neri, Giovanna Cantarella, Lorenzo Pignataro
Congenital laryngeal webs are rare and are defined as thick epithelium-covered fibrous tissue lying between the vocal folds; the anterior glottis is the most common site of involvement, with possible extension to the subglottic region. The association with chromosome 22q11.2 deletion syndrome has also been reported. Symptoms have been abnormal or absent crying and airway obstruction since birth. Management strategies range from endoscopic division using cold instruments to open surgery for severe webbing. In endoscopic surgery, the need for tubeless anesthesia and spontaneous breathing is fundamental for obtaining the best surgical outcome...
May 2023: Congenital Anomalies
https://read.qxmd.com/read/37073427/examining-the-relationship-between-autism-spectrum-disorder-and-neural-tube-defects
#47
JOURNAL ARTICLE
Margaret Hasler, Ülgen S Fideli, Apryl Susi, Elizabeth Hisle-Gorman
Folate and vitamin B12 deficiencies have been strongly associated with neural tube defects, preliminary research suggests folate and B12 deficiency may also be associated with autism spectrum disorder (ASD). We examined the association between neural tube defects and ASD as a further avenue to examine the hypothesis that ASD is related to maternal folate and B12 deficiency during pregnancy. A retrospective case-control study was performed using the Military Health System Data Repository. Cases and matched controls were followed from birth until at least 6 months after their first autism diagnosis...
April 18, 2023: Congenital Anomalies
https://read.qxmd.com/read/37060306/klinefelter-syndrome-with-penoscrotal-transposition-and-diphallia-a-case-study
#48
JOURNAL ARTICLE
Yugo Kawakami, Kentaro Sawano, Nao Shibata, Takayuki Kaneko, Keisuke Nagasaki
No abstract text is available yet for this article.
April 15, 2023: Congenital Anomalies
https://read.qxmd.com/read/36946065/precise-definition-of-the-breakpoints-of-an-apparently-balanced-translocation-between-chromosome-3q26-and-chromosome-7q36-role-of-kmt2c-disruption
#49
JOURNAL ARTICLE
Mamiko Yamada, Hisato Suzuki, Fuyuki Miya, Kiyotaka Kosugiyama, Takeshi Ujiie, Hidefumi Tonoki, Kenjiro Kosaki
When a de novo balanced reciprocal translocation is identified in the patient, the cause of phenotype of the patient can be explained by detecting the breakpoints of the genes. Here, we report a 3-year-old patient with developmental delay, autism spectrum disorder, and distinctive facial features who had an apparently balanced translocation between chromosome 3q26 and chromosome 7q36. Nanopore long-read sequencing revealed that balanced translocation disrupted the KMT2C gene, the haploinsufficiency of which leads to Kleefstra syndrome 2 characterized by delayed psychomotor development, variable intellectual disability and mild dysmorphism...
March 22, 2023: Congenital Anomalies
https://read.qxmd.com/read/36946028/ureteropelvic-junction-obstruction-upj-due-to-congenital-crossing-of-the-renal-vessels-crv-comparison-of-the-pre-and-postoperative-features-of-upjo-with-and-without-crv
#50
JOURNAL ARTICLE
Süleyman Çelebi
We evaluated the differences in demographic characteristics of patients with and without underlying crossing renal vessels (CRVs) operated for unilateral symptomatic ureteropelvic junction obstruction (UPJO). We identified the features of patients who had undergone open, laparoscopic and robotically assisted laparoscopic pyeloplasty at our institution from July 2000 to January 2021. The ratio of renal parenchymal thickness (RPT; ratio between the kidney with UPJO and the healthy kidney), pelvic diameter and kidney functions were recorded...
March 22, 2023: Congenital Anomalies
https://read.qxmd.com/read/36946004/expanded-targeted-screening-for-congenital-cytomegalovirus-infection
#51
JOURNAL ARTICLE
Yumeng Zhang, Tomoko Egashira, Masakazu Egashira, Shun Ogiwara, Hiroyuki Tomino, Akinori Shichijo, Tomoko Mizukami, Tsutomu Ogata, Hiroyuki Moriuchi, Toshimitsu Takayanagi
An early diagnosis and intervention for congenital cytomegalovirus infection can reduce long-term disability; however, the introduction of universal neonatal screening has been controversial worldwide. The present study clarified the outcome of a targeted screening protocol for detecting congenital cytomegalovirus infection based on suggestive perinatal conditions. In addition, the positive rate was compared to those from the reported studies and the validity of the targeted screening criteria was discussed...
March 22, 2023: Congenital Anomalies
https://read.qxmd.com/read/36945999/differential-staining-patterns-of-immunohistochemical-markers-for-neurogenesis-staging-in-the-premature-cerebellum-of-ferrets-and-mice
#52
JOURNAL ARTICLE
Kazuhiko Sawada, Shiori Kamiya
Immunohistochemical staining patterns of markers for neurogenesis staging were compared at the identical stage of cerebellar histogenesis between ferrets (aged 20 days) and mice (aged 10 days). Proliferating cell nuclear antigen (PCNA) immunostaining was observed largely in the granular precursors of the external granular layer (EGL) in both ferrets and mice. PCNA-immunostaining was also found in brain lipid-binding protein-immunopositive cells in the internal granular layer and was more abundant in ferrets than in mice...
March 22, 2023: Congenital Anomalies
https://read.qxmd.com/read/36517451/prenatal-diagnosis-of-vacterl-association-after-early-first-trimester-sars-cov-2-infection
#53
JOURNAL ARTICLE
Angel Chimenea, Lutgardo García-Díaz, Ana María Calderón, Guillermo Antiñolo
Organogenesis is a period of fetal development with a special vulnerability to biological and environmental agents. There are some viral infections whose transmission in the first trimester carries a significant risk for the development of congenital anomalies. Although the possibility of vertical transmission of SARS-CoV-2 during pregnancy has been demonstrated, there are no studies evaluating the impact of SARS-CoV-2 infection in the first trimester and its possible association with congenital anomalies. In this communication, we present the case of a pregnant woman with early SARS-CoV-2 infection, prenatally diagnosed with fetal VACTERL association by mid-trimester ultrasound...
March 2023: Congenital Anomalies
https://read.qxmd.com/read/36710246/secular-decrease-in-chromosomal-mosaicism-in-cultured-and-uncultured-peripheral-blood-cells-of-six-patients-with-mosaic-down-syndrome
#54
JOURNAL ARTICLE
Takako Takano, Tatsuo Masuyama
No abstract text is available yet for this article.
January 29, 2023: Congenital Anomalies
https://read.qxmd.com/read/36680745/an-investigation-into-nutritional-methods-at-the-fifth-day-after-birth-of-infants-in-association-with-cleft-type-and-laterality
#55
JOURNAL ARTICLE
Ayano Ogawa, Yasunori Sasaki, Masahiro Naruse
In patients with clefts, the affection of other congenital malformations on the feeding is unclear. We investigated the other congenital malformations and nutritional intake of neonates with cleft lip and/or palate and examined their relationships associated with cleft type and laterality. The participants included 126 infants under treatment with a presurgical naso-alveolar molding (PNAM) or a Hotz-type plate. The survey items were gender, cleft type and side, presence and nature of other congenital malformations, birth weight and nutritional method at age of the fifth day...
January 21, 2023: Congenital Anomalies
https://read.qxmd.com/read/36680738/evaluation-of-clinical-features-and-outcome-of-eight-fetuses-with-ectopia-cordis-a-study-from-a-fetal-cardiology-center
#56
JOURNAL ARTICLE
Eviç Zeynep Başar, Yasemin Dogan, Özlem Kayabey, Kadir Babaoğlu
We aim to evaluate the clinical course and outcome of cases with a prenatal diagnosis of ectopia cordis in our center. In this retrospective study we analyzed clinical variables including gestational age at diagnosis, maternal age, associated cardiac, extracardiac, genetic anomalies and, outcome in prenatally diagnosed ectopia cordis cases in our tertiary referral center. Eight ectopia cordis cases from seven pregnancies were included in the study. All fetuses had complete type of ectopia cordis and pentalogy of Cantrell...
January 21, 2023: Congenital Anomalies
https://read.qxmd.com/read/36680564/3-d-printed-bionic-ear-and-microtia-anotia-medical-and-forensic-implications
#57
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
#58
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
#59
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
#60
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
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