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Congenital malformations

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https://www.readbyqxmd.com/read/28812458/congenital-cystic-lung-lesions-evolution-from-in-utero-detection-to-pathology-diagnosis-a-multidisciplinary-approach
#1
Steven Hardee, Lea Tuzovic, Cicero T Silva, Robert A Cowles, Joshua Copel, Raffaella A Morotti
Congenital cystic lung lesions are a group of rare pathologies that are usually diagnosed in the prenatal period. The majority of these lesions are diagnosed at pathology examination as congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestration (BPS). These lesions are typically managed by surgical intervention within the first year of life and have an excellent prognosis. We examined the evolution of imaging appearances from prenatal diagnosis to postnatal work-up of these lesions and correlate imaging and pathological findings...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28811814/apert-syndrome-report-of-a-rare-congenital-malformation
#2
Ehsan Rathore, Altaf Hussain Rathore
A rare case of an adult male with malformation of the skull, face, hands and feet called acrocephalosyndactly or Apert syndrome is presented. Its probable cause, features and treatment is discussed. It is a unique case who survived upto the age of 32 years without any operative intervention and adjusted in the society though he has all the stigmas of the above syndrome. We have concluded and made a point that in the adult sufferer, facial deformity is not so important and urgent for the treatment than syndactyly, which handicaps the sufferer in performing the daily routine work...
May 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/28808648/traumatic-arteriovenous-malformation-of-the-superficial-temporal-artery
#3
Mahmoud Omrani Fard, Omid Yousofnejad, Mohammadbagher Heydari
Most of the vascular lesions on head and neck soft tissue are congenital, but a rare cause can be trauma. A 23-year-old man came to our clinic with a wide pulsatile tortuous mass in the left temporofrontal area. That mass was appeared since 10 years ago. Ten years before his coming to our clinic, he had a blunt trauma in that area. After that, a small wound appeared there and healed gradually. In clinical examination, mass was large and pulsatile, and a fine murmur was detected from it. In paraclinical examination, computed tomography scan with intravenous contrast and sonography revealed a vascular mass with arteriovenous (AV) fistula in soft tissue only in that area...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28808027/de-novo-mutations-in-inhibitors-of-wnt-bmp-and-ras-erk-signaling-pathways-in-non-syndromic-midline-craniosynostosis
#4
Andrew T Timberlake, Charuta G Furey, Jungmin Choi, Carol Nelson-Williams, Erin Loring, Amy Galm, Kristopher T Kahle, Derek M Steinbacher, Dawid Larysz, John A Persing, Richard P Lifton
Non-syndromic craniosynostosis (NSC) is a frequent congenital malformation in which one or more cranial sutures fuse prematurely. Mutations causing rare syndromic craniosynostoses in humans and engineered mouse models commonly increase signaling of the Wnt, bone morphogenetic protein (BMP), or Ras/ERK pathways, converging on shared nuclear targets that promote bone formation. In contrast, the genetics of NSC is largely unexplored. More than 95% of NSC is sporadic, suggesting a role for de novo mutations. Exome sequencing of 291 parent-offspring trios with midline NSC revealed 15 probands with heterozygous damaging de novo mutations in 12 negative regulators of Wnt, BMP, and Ras/ERK signaling (10...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28807903/transgelin-expressing-myofibroblasts-orchestrate-ventral-midline-closure-through-tgf-%C3%AE-signalling
#5
Bashar Aldeiri, Urmas Roostalu, Alessandra Albertini, Jason Wong, Antonino Morabito, Giulio Cossu
Ventral body wall (VBW) defects are among the most common congenital malformations, yet their embryonic origin and underlying molecular mechanisms have remained poorly characterized. Although transforming growth factor beta (TGF-β) signalling is essential for VBW closure the responding cells are not known. Here we identify a population of migratory myofibroblasts at the leading edge of the closing VBW that express the actin-binding protein Transgelin (TAGLN) and TGF-β receptor (TGFβR). These cells respond to a temporally regulated TGF-β2 gradient originating from the epithelium of the primary body wall...
August 14, 2017: Development
https://www.readbyqxmd.com/read/28807900/heart-morphogenesis-gene-regulatory-networks-revealed-by-temporal-expression-analysis
#6
Jonathon T Hill, Bradley Demarest, Megan Smith, Bushra Gorsi, H Joseph Yost
During embryogenesis, the heart forms as a linear tube that then undergoes multiple simultaneous morphogenetic events to obtain its mature shape. To understand the gene regulatory networks (GRNs) driving this phase of heart development, during which many congenital heart disease malformations likely arise, we conducted an RNA-seq time course in zebrafish from 30 hpf to 72 hpf and identified 5,861 genes with altered expression. We then clustered the genes by temporal expression pattern, identified transcription factor binding motifs enriched in each cluster, and generated a model GRN for the major gene batteries in heart morphogenesis...
August 14, 2017: Development
https://www.readbyqxmd.com/read/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#7
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K Grange, Marisa V Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L Jefferies, Jill A Rosenfeld, Lisa Emrick, Kimberly M Nugent, James R Lupski, John W Belmont, Brendan Lee, Seema R Lalani
BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts...
August 14, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28806195/antiretroviral-combination-use-during-pregnancy-and-the-risk-of-major-congenital-malformations
#8
Anick Bérard, Odile Sheehy, Jin-Ping Zhao, Michal Abrahamowicz, Mona Loutfy, Isabelle Boucoiran, Sasha Bernatsky
OBJECTIVE: To quantify the risk of major congenital malformations associated with gestational combination antiretroviral use. DESIGN: Population-based prospective cohort study. METHODS: Using the Quebec Pregnancy Cohort from 1998-2015, we included women who covered by Quebec Drug Plan and have a singleton livebirth. All antiretroviral use alone or in combination were considered. Major congenital malformations overall and organ-specific malformations in the first year of life were identified...
August 12, 2017: AIDS
https://www.readbyqxmd.com/read/28805766/-results-of-a-clinical-and-genealogical-analysis-of-pedigrees-of-children-with-cerebral-palsy-in-the-population-of-rostov-region
#9
V A Tupikov, T S Kolmakova, V B Shamik, M V Tupikov, N M Churilov
AIM: To perform clinical and genealogical pedigree analysis and determine the proportion of hereditary factors in the etiopathogenesis of cerebral palsy (CP) in children in the Rostov Region. MATERIAL AND METHODS: Pedigrees and the prevalence of CP, congenital malformations and other related diseases among relatives of I, II and III degrees of kinship of 229 probands with CP were studied. RESULTS AND CONCLUSION: The family concentration of the disease was detected in 15 (6...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28804916/lane-s-disease-erythema-palmare-hereditarium-a-report-of-five-cases-and-a-review-of-the-literature
#10
Carlotta Gurioli, Annalisa Patrizi, Martina Lambertini, Iria Neri
BACKGROUND: Erythema palmare hereditarium (EPH), also known as Lane's disease, is a rare, benign condition presenting as persistent erythema involving the palms. EPH can appear at birth or later in life and usually in at least two members of the same family, although a sporadic case has been reported. METHODS: We report five cases of EPH and offer a review of the current literature. The first and second cases are twin boys presenting with erythema mainly on the thenar and hypothenar eminences and on the phalanges that appeared 8 months after birth...
August 14, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28803450/manoeuvre-to-aid-endoscopic-division-of-aryepiglottic-folds-aryepiglottoplasty
#11
Salil Sood, Raymond Clarke, Andrew Bowhay, Sujata De
Laryngomalacia, a congenital malformation of larynx is the commonest cause of stridor in young infants. Ninety percent of cases resolve by the age of 2 years without any active intervention (1).The most consistent abnormality seen in non-resolving cases is shortening of the aryepiglottic folds (picture 1).(2) This article is protected by copyright. All rights reserved.
August 13, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28803051/variations-in-the-labyrinthine-segment-of-facial-nerve-canal-revealed-by-high-resolution-computed-tomography
#12
Aiyan Jin, Peng Xu, Fengqin Qu
OBJECTIVE: To study variations in the labyrinthine segment of fallopian canal and the associated middle and inner ear malformations. METHOD: The high-resolution computed tomography (HRCT) images of the temporal bone in 24 patients with congenital variations in the labyrinthine segment of fallopian canal were analyzed retrospectively. The length of labyrinthine segment of the facial nerve and angle of the first genu of 10 normal subjects were also measured. Based on the original axial images, multi-planar reformation (MPR) and curved-planar reformation (CPR) images of bilateral ossicular chains, inner ear structure and fallopian canal were reconstructed...
August 9, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28799164/preconception-care-for-diabetic-women-for-improving-maternal-and-infant-health
#13
REVIEW
Joanna Tieu, Philippa Middleton, Caroline A Crowther, Emily Shepherd
BACKGROUND: Infants born to mothers with pre-existing type 1 or type 2 diabetes mellitus are at greater risk of congenital anomalies, perinatal mortality and significant morbidity in the short and long term. Pregnant women with pre-existing diabetes are at greater risk of perinatal morbidity and diabetic complications. The relationship between glycaemic control and health outcomes for both mothers and infants indicates the potential for preconception care for these women to be of benefit...
August 11, 2017: Cochrane Database of Systematic Reviews
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/28797219/unresolving-trismus-following-third-molar-surgery-report-of-a-case-of-fibrodysplasia-ossificans-progressiva-with-review-of-literature
#15
B R Rajanikanth, Kavitha Prasad, K Vineeth, Sushma M N Sonale, Khuteja Al-Kubra
BACKGROUND: Trismus is a problem commonly encountered by the dental practitioner. It has a number of potential causes, and its treatment will depend on the cause. However, there are very few reports of trismus due to fibrodysplasia ossificans progressiva (FOP) following third molar surgery. CLINICAL PRESENTATION: FOP is a rare human genetic disorder with characteristic clinical features like progressive formation of extraskeletal bone or heterotopic ossification and congenital malformation of the great toes...
August 11, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/28796979/anovestibular-fistula-in-an-infant-with-retroviral-infection-case-report
#16
Deepa Makhija, Hemanshi Shah, Charu Tiwari, Jayesh Desale
A vestibular fistula with a normal anus is a rare subtype of anorectal malformation seen more often in East Asia and India. Though mostly congenital, some authors have suggested acquired etiologies for this condition. Infants with retroviral infection have been reported to develop acquired rectovestibular fistulas. We report a case of an infant anovestibular fistula in a patient with retroviral infection.
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28796762/notes-from-the-field-zika-virus-associated-neonatal-birth-defects-surveillance-texas-january-2016-july-2017
#17
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/28796462/malformations-surveillance-comparison-between-findings-at-birth-and-age-1-year
#18
Emma G Thomas, Cathleen Higgins, Marie-Noel Westgate, Angela E Lin, Marlene Anderka, Lewis B Holmes
BACKGROUND: Malformations surveillance programs among newborn infants are used to determine the prevalence of congenital anomalies. A comparison in the same group of infants between the malformations detected at birth and those detected at 1 year of age will identify errors in the surveillance process and, also, the abnormalities more likely not to be detected at birth, but later in the first year of life. METHODS: The malformations identified at birth by Brigham and Women's Hospital (BWH) in the years 2000 and 2005 have been compared with the abnormalities detected in the same infants up to age 1 year by the Massachusetts Birth Defects Monitoring Program...
August 10, 2017: Birth defects research
https://www.readbyqxmd.com/read/28796426/vitamin-d-levels-in-smith-lemli-opitz-syndrome
#19
Miyad Movassaghi, Simona Bianconi, Richard Feinn, Christopher A Wassif, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome caused by mutations in the 7-dehydrocholesterol reductase gene. This inborn error of cholesterol synthesis leads to elevated concentrations of 7-dehydrocholesterol (7-DHC). 7-DHC also serves as the precursor for vitamin D synthesis. Limited data is available on vitamin D levels in individuals with SLOS. Due to elevated concentrations of 7-DHC, we hypothesized that vitamin D status would be abnormal and possibly reach toxic levels in patients with SLOS...
August 10, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28796097/comparison-of-two-different-grafts-in-nasal-framework-reconstruction-of-binder-syndrome-cartilage-and-silicone
#20
Le Tian, Jianjun You, Huan Wang, Bo Zhang, Yihao Xu, Xiaona Lu, Fei Fan
BACKGROUND: Binder syndrome is a rare congenital malformation with a flat facial profile especially a depressed nose. Rhinoplasty plays an important part in the multidisciplinary surgical protocol. Different materials have been proposed to reconstruct nasal framework. But fewer evidence concerns which graft can achieve more stable and appreciated nasal contour. In this article, the authors reported surgical details and experience of nasal framework reconstruction of Binder syndrome, compare the esthetic outcomes of 2 grafts: autologous costal cartilage and L-shaped silicone covered with auricular cartilage...
August 8, 2017: Journal of Craniofacial Surgery
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