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JOURNAL ARTICLE
Edward O Komolafe, Chizowa O Ezeaku, Gabriel O Ejembi, Christopher O Anele, Simon A Balogun
PURPOSE: A congenital encephalocele is the herniation of intracranial contents through skull defects of various sizes. Depending on the site, content, and size, it is associated with significant morbidity and mortality in children. There is a paucity of recent and comprehensive local clinical data regarding this anomaly. Understanding the peculiarities, clinical-pathologic profiles, and management challenges will help prevent and effectively manage congenital encephalocele to improve outcomes...
May 3, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#2
REVIEW
E Marcati, G Meccariello, L Mastino, M Picano, P D Giorgi, G Talamonti
Open spina bifida, also known as myelomeningocele (MMC), is the most challenging and severe birth defect of the central nervous system compatible with life and it is due to a failure in the dorsal fusion of the nascent neural tube during embryonic development. MMC is often accompanied by a constellation of collateral conditions, including hydrocephalus, Arnold - Chiari II malformation, brainstem disfunction, hydrosyringomyelia, tethered cord syndrome and scoliosis. Beyond early surgical repair of the dorsal defect, MMC requires lifelong cares...
2024: Advances and Technical Standards in Neurosurgery
#3
Chong Chu, Viktor Ljungström, Antuan Tran, Hu Jin, Peter J Park
Insertion of active retroelements-L1s, Alu s, and SVAs-can disrupt proper genome function and lead to various disorders including cancer. However, the role of de novo retroelements (DNRTs) in birth defects and childhood cancers has not been well characterized due to the lack of adequate data and efficient computational tools. Here, we examine whole-genome sequencing data of 3,244 trios from 12 birth defect and childhood cancer cohorts in the Gabriella Miller Kids First Pediatric Research Program. Using an improved version of our tool xTea (x-Transposable element analyzer) that incorporates a deep-learning module, we identified 162 DNRTs, as well as 2 pseudogene insertions...
April 16, 2024: medRxiv
#4
REVIEW
Marcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, Lydie M Da Costa, Antonis Kattamis, Irma Dianzani, Cristina Belendez, Sule Unal, Hannah Tamary, Ramune Pasauliene, Dagmar Pospisilova, Josu de la Fuente, Deena Iskander, Lawrence Wolfe, Johnson M Liu, Akiko Shimamura, Katarzyna Albrecht, Birgitte Lausen, Anne Grete Bechensteen, Ulf Tedgard, Alexander Puzik, Paola Quarello, Ugo Ramenghi, Marije Bartels, Heinz Hengartner, Roula A Farah, Mahasen Al Saleh, Amir Ali Hamidieh, Wan Yang, Etsuro Ito, Hoon Kook, Galina Ovsyannikova, Leo Kager, Pierre-Emmanuel Gleizes, Jean-Hugues Dalle, Brigitte Strahm, Charlotte M Niemeyer, Jeffrey M Lipton, Thierry M Leblanc
Diamond-Blackfan anaemia (DBA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilection for birth defects and cancer. Despite scientific advances, this chronic, debilitating, and life-limiting disorder continues to cause a substantial physical, psychological, and financial toll on patients and their families. The highly complex medical needs of affected patients require specialised expertise and multidisciplinary care. However, gaps remain in effectively bridging scientific discoveries to clinical practice and disseminating the latest knowledge and best practices to providers...
May 2024: Lancet Haematology
#5
JOURNAL ARTICLE
Keng Ioi Vong, Sangmoon Lee, Kit Sing Au, T Blaine Crowley, Valeria Capra, Jeremiah Martino, Meade Haller, Camila Araújo, Hélio R Machado, Renee George, Bryn Gerding, Kiely N James, Valentina Stanley, Nan Jiang, Kameron Alu, Naomi Meave, Anna S Nidhiry, Fiza Jiwani, Isaac Tang, Ashna Nisal, Ishani Jhamb, Arzoo Patel, Aakash Patel, Jennifer McEvoy-Venneri, Chelsea Barrows, Celina Shen, Yoo-Jin Ha, Robyn Howarth, Madison Strain, Allison Elizabeth Ashley-Koch, Matloob Azam, Sara Mumtaz, Gyang Markus Bot, Richard H Finnell, Zoha Kibar, Ahmed I Marwan, Gia Melikishvili, Hal S Meltzer, Osvaldo M Mutchinick, David A Stevenson, Henry J Mroczkowski, Betsy Ostrander, Erica Schindewolf, Julie Moldenhauer, Elaine H Zackai, Beverly S Emanuel, Sixto Garcia-Minaur, Beata A Nowakowska, Roger E Stevenson, Maha S Zaki, Hope Northrup, Hanna K McNamara, Kimberly A Aldinger, Ian G Phelps, Mei Deng, Ian A Glass, Bernice Morrow, Donna M McDonald-McGinn, Simone Sanna-Cherchi, Dolores J Lamb, Joseph G Gleeson, Allison Elizabeth Ashley Koch, Hal S Meltzer, Joan Le, Kit Sing Au, Hope Northrup, Gyang Markus Bot, Valeria Capra, Richard H Finnell, Zoha Kibar, Philip J Lupo, Helio R Machado, Camila Araújo, Tony Magana, Ahmed I Marwan, Gia Melikishvili, Osvaldo M Mutchinick, Roger E Stevenson, Anna Yurrita, Maha S Zaki, Sara Mumtaz, José Ramón Medina-Bereciartu, Caroline M Kolvenbach, Shirlee Shril, Friedhelm Hildebrandt, Mahmoud M Noureldeen, Aida Ms Salem, Yukitoshi Takahashi, Hormos Salimi-Dafsari, H Westley Phillips, Brian Hanak, Bülent Kara, Ayfer Sakarya Güneş, David D Gonda, Salman Kirmani, Tinatin Tkemaladze, Joseph G Gleeson
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing of 715 parent-offspring trios identified six patients with chromosomal 22q11.2 deletions, suggesting a 23-fold increased risk compared with the general population. Furthermore, analysis of a separate 22q11.2 deletion cohort suggested a 12- to 15-fold increased NTD risk of meningomyelocele...
May 3, 2024: Science
#6
JOURNAL ARTICLE
Theodoros Georgiou, Petros P Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A Tanteles, Violetta Anastasiadou, Anthi Drousiotou
Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD. The minimal prevalence of IMD in Cyprus is 53.3 cases per 100,000 live births. The most common group are disorders of amino acid metabolism (41.0%), followed by disorders of carbohydrate metabolism (16...
June 2024: Molecular Genetics and Metabolism Reports
#7
JOURNAL ARTICLE
Martin Jouza, Ingrid Rejdova, Lukas Cintula, Anna Jouzova, Petr Jabandziev
BACKGROUND: Imperforate hymen is the most common congenital defect of the female urogenital tract. The spectrum of clinical manifestations is broad, ranging from mild cases undiagnosed until adolescence to severe cases of giant intraabdominal masses. The most common complication of hydrocolpos is bladder compression, resulting in obstructive uropathy and hydronephrosis. CASE PRESENTATION: We present here the case of a preterm neonate who was admitted to the surgical neonatal intensive care unit for bowel obstruction...
May 2, 2024: Maternal Health, Neonatology and Perinatology
#8
Maki Sato, Hirofumi Saiki, Kanchi Saito, Akira Sato, Seiko Kuwata, Satoshi Nakano, Junichi Koizumi, Kotaro Oyama, Manami Akasaka
While atrial septal defect (ASD) may contribute to right ventricular decompression in patients with severe pulmonary hypertension (PH), the pulmonary vasculature might be compromised by increased pulmonary blood flow, even though pulmonary vasodilators successfully reduce resistance. ASD closure is a treatment option that may ameliorate PH symptoms associated with bronchopulmonary dysplasia (BPD) in infants. However, the feasibility of ASD closure is obscure in patients with BPD-PH causing right-to-left shunting...
March 2024: Curēus
#9
JOURNAL ARTICLE
Kaustubh Wagh, Vijaya Kancherla, Amanda Dorsey, Helena Pachón, Godfrey P Oakley
BACKGROUND: Mandatory fortification of staple foods with folic acid is an effective public health strategy to prevent folic acid-preventable spina bifida and anencephaly (FAP SBA). We estimated the global proportion of FAP SBA prevented through mandatory folic acid fortification of cereal grains (i.e., wheat flour, maize flour, and rice). METHODS: We used year 2022 data from the Food Fortification Initiative to identify countries (n = 69) with mandatory fortification of grains that includes folic acid...
May 2024: Birth Defects Research
#10
JOURNAL ARTICLE
Esteban Portilla-Rojas, Pablo Pineda-Sanabria, Lina Ramírez, Maria Isabel Cuevas, Juliana Lores, Karen Sarmiento, Ignacio Zarante
Clubfoot is a common musculoskeletal congenital abnormality, with a prevalence of 5-20 cases per 10 000 live births in low to middle-income countries. If left untreated, clubfoot causes severe consequences for the child: gait disturbances, reduced quality of life, and limited work opportunities. Our objective was to characterize clubfoot and determine its prevalence and associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020. A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system...
April 25, 2024: Journal of Pediatric Orthopedics. Part B
#11
JOURNAL ARTICLE
Min Yu, Xiao-Min Pan, Jin Yang, Fei Liu, Zhe-Ren Zhou
Objective To analyze the incidence rate of birth defects in infants born at different gestational ages and birth weights,so as to provide a basis for improving the surveillance system and reducing the incidence of birth defects. Methods Data of all perinatal infants born at and after 28 weeks of gestation and within 7 days after delivery in all the hospitals with the obstetrical department from October 1,2003 to September 30,2015 were collected. Results From 2003 to 2015,1 236 937 perinatal infants were monitored,including 10 619 with birth defects (incidence rate of 8...
April 2024: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
#12
JOURNAL ARTICLE
Sudipta Kumer Mukherjee, Joanna E Papadakis, D M Arman, Joynul Islam, Mubinul Azim, Asifur Rahman, Sheikh Muhammad Ekramullah, Hafiza Sultana Suchanda, Afifah Farooque, Benjamin C Warf, Maitreyi Mazumdar
OBJECTIVE: Reports on the management and survival of children with myelomeningocele defects in Bangladesh are limited. This study describes the characteristics and outcomes of these children, focusing on the timing of surgical repair and factors affecting survival. METHODS: We enrolled patients with myelomeningoceles in a case-control study on arsenic exposure and spina bifida in Bangladesh. Cases were subsequently followed at regular intervals to assess survival...
April 27, 2024: World Neurosurgery
#13
JOURNAL ARTICLE
Annie Chen-Carrington, Dean Leonard, Adam Goodreau, Jennifer Rhodes, Gary W Tye
A mature cystic teratoma is a mass with heterogeneous appearance, consisting of adult tissue with two or three layers: endoderm, mesoderm, and ectoderm. It is a rare, benign transformation of somatic tissue most commonly found in the sacrococcygeal region and may resemble an uncomplicated spina bifida on prenatal ultrasonography. In this case report, we describe a female newborn with an extremely rare mature cystic teratoma in the thoracolumbar region. She presented prenatally with a preliminary diagnosis of meningomyelocele, diastematomyelia, and Chiari II malformation and a possible teratoma...
April 29, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#14
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
May 2024: Birth Defects Research
#15
M Masci, A Missineo, C M Campanale, P Moras, M C Colucci, L Pasquini, A Toscano
Published data estimate the prevalence of the vascular ring at approximately 7 per 10,000 live births. The association of a double aortic arch with a D-transposition of the great arteries has been rarely described in the literature. In this study, we report the prenatal diagnosis of a 28-year-old woman. A fetal echocardiography at a gestational age of 24 weeks + 6 days showed a D-transposition of the great arteries and a double aortic arch with a ventricular septal defect and pulmonary stenosis...
2024: Frontiers in Cardiovascular Medicine
#16
JOURNAL ARTICLE
Myths Pertaining to COVID-19 Vaccination in Pregnant Women Attending a Rural Tertiary Care Hospital.
Harinder Kaur, Monika Jindal, Sameer Singh Faujdar, Santosh Minhas, Nitin Rathi, Navneet Kaur
Background The outbreak of the COVID-19 pandemic led to the rise of various social issues apart from medical ones. Several myths regarding COVID-19 vaccination were found worldwide, and some of the common ones identified were abortions, birth defects, bad pregnancy outcomes such as abortions, ectopic pregnancy, risk of infertility, and irregular menstrual cycles. Although no scientific theories or data backed those myths, pregnancy was still omitted from trials for a long time as any drug/vaccine given during pregnancy may affect the fetus...
March 2024: Curēus
#17
JOURNAL ARTICLE
Noga Arwas, Dvir Gatt, Micha Aviram, Ramy Abramsky, Guy Hazan, Aviv Goldbart, Israel Amirav, Inbal Golan-Tripto
Though PCD usually presents after birth in term neonates, diagnosing PCD during the neonatal and infancy stages is uncommon, particularly in children who do not exhibit laterality defects. We report our recent experience with the diagnosis of PCD in the neonatal and early infantile period in a highly consanguine population. This was achieved by implementing a novel genetic-based diagnostic approach based on direct testing for recognized regional genetic variants. We conducted a retrospective analysis of children diagnosed with PCD at Soroka University Medical Center during the neonatal or early infantile period between 2020 and 2023...
April 29, 2024: European Journal of Pediatrics
#18
Hamide Barzegar, Marzieh Davoodi, Shahnaz Pourarian, Hamid Reihani
INTRODUCTION AND IMPORTANCE: Encephalocele is a rare medical condition where certain parts of the central nervous system protrude through a skull defect, resulting in a deformity where the head size is smaller than the protrusion. This condition is relatively uncommon, and only a few cases have been reported worldwide. CASE PRESENTATION: We present a case of a 13-day-old neonate with a giant occipital encephalocele who underwent a successful surgical intervention in a resource-limited setting...
April 27, 2024: International Journal of Surgery Case Reports
#19
JOURNAL ARTICLE
Doriana Misceo, Petter Strømme, Fatemeh Bitarafan, Maninder Singh Chawla, Ying Sheng, Sandra Monica Bach de Courtade, Lars Eide, Eirik Frengen
Oxidative phosphorylation involves a complex multi-enzymatic mitochondrial machinery critical for proper functioning of the cell, and defects herein cause a wide range of diseases called "primary mitochondrial disorders" (PMDs). Mutations in about 400 nuclear and 37 mitochondrial genes have been documented to cause PMDs, which have an estimated birth prevalence of 1:5000. Here, we describe a 4-year-old female presenting from early childhood with psychomotor delay and white matter signal changes affecting several brain regions, including the brainstem, in addition to lactic and phytanic acidosis, compatible with Leigh syndrome, a genetically heterogeneous subgroup of PMDs...
April 17, 2024: Genes
#20
REVIEW
Iulia Huluță, Livia-Mihaela Apostol, Radu Botezatu, Anca Maria Panaitescu, Corina Gică, Romina-Marina Sima, Nicolae Gică, Florina Mihaela Nedelea
The increasing prevalence of bariatric surgery among women of childbearing age raises critical questions about the correct management of pregnancy following these procedures. This literature review delves into the multifaceted considerations surrounding pregnancy after bariatric surgery, with a particular focus on the importance of preconception counselling, appropriate nutrition assessment, and the necessity of correct folic acid supplementation. Key areas of investigation include nutrient absorption challenges, weight gain during pregnancy, and potential micronutrient deficiencies...
April 15, 2024: Medicina
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