keyword
https://read.qxmd.com/read/38534164/conservative-airway-management-successful-in-majority-of-infants-with-pierre-robin-sequence-at-queensland-children-s-hospital-a-retrospective-review
#21
JOURNAL ARTICLE
Harrison Theile, Yun Phua, Stuart Bade, Susan O'Mahony, Jasneek Chawla, Sadasivam Suresh, Richard Theile
PURPOSE: Pierre-Robin Sequence (PRS) is a congenital abnormality characterized by micrognathia, glossoptosis, and variable severity upper airway obstruction. Clear management algorithms are lacking, particularly the indications for surgical versus nonsurgical intervention. The authors reviewed the management of these children in Queensland. METHODS: All children diagnosed with PRS at Queensland Children's Hospital from April 2014 to October 2019 were identified (n=45), and their charts were retrospectively reviewed...
March 27, 2024: Journal of Craniofacial Surgery
https://read.qxmd.com/read/38534004/first-in-man-right-atrial-appendage-implantation-of-a-micra-leadless-pacemaker
#22
Pauline Pinon, Laurence Iserin, Fatma Hachem, Victor Waldmann
INTRODUCTION: Pacemaker implantation can be challenging in patients with congenital heart disease. METHODS AND RESULTS: In a patient with Ebstein disease and symptomatic sinus node dysfunction, despite multiple attempts, the Micra® pacemaker could not be implanted in the severely dilated right ventricle. In that context, and after iodine injection to confirm the appropriate location, the Micra® pacemaker was successfully implanted in the right appendage at the first attempt...
March 27, 2024: Journal of Cardiovascular Electrophysiology
https://read.qxmd.com/read/38533951/impact-of-an-impaired-maternal-fetal-environment-on-death-in-children-with-congenital-heart-defects-undergoing-surgery-in-denmark-from-1994-to-2018
#23
JOURNAL ARTICLE
Rasmus Kristensen, Camilla Omann, Charlotte K Ekelund, J William Gaynor, Vibeke E Hjortdal
BACKGROUND: Studies show that an impaired maternal-fetal environment (iMFE) increases the mortality risk in children with single-ventricle congenital heart defects (CHDs). We investigated the impact of an iMFE on death in children with various surgically corrected CHDs. METHODS AND RESULTS: In this nationwide register-based study, we examined the association between an iMFE (including preeclampsia, gestational hypertension, gestational diabetes, maternal smoking during pregnancy) and death in a large cohort of children with surgically corrected CHDs in Denmark (1994-2018)...
March 27, 2024: Journal of the American Heart Association
https://read.qxmd.com/read/38533865/-not-available
#24
JOURNAL ARTICLE
Henrik Holm Thomsen
Congenital adrenal hyperplasia (CAH) arises from genetic enzyme defects, often in CYP21A2, causing primary adrenal insufficiency. In this case report, a man in his late 20s with lifelong CAH faced challenges in adhering to medication. Suboptimal treatment led to the development of testicular adrenal rest tumours, diagnosed by ultrasound, and hypogonadism. Enhanced adherence restored hormone levels, promoting eugonadism. Adherence plays a crucial role in diminishing tumour size and preventing complications, potentially necessitating orchiectomy in severe cases...
March 11, 2024: Ugeskrift for Laeger
https://read.qxmd.com/read/38533810/impaired-endochondral-ossification-in-a-skeletally-immature-dog-implications-for-femoral-cleft-formation-and-suspected-incomplete-femoral-ossification
#25
JOURNAL ARTICLE
P Guy, C Le Roux
Historically, knowledge regarding congenital skeletal malformations in canines is poor. The Nomina Embryologica Veterinaria does not currently list any dysmorphia related to distal femoral fusion, and there is a significant absence of comprehensive descriptions of congenital defects in the veterinary literature. This paper reports on the radiographic and computed tomography (CT) characteristics of a skeletal abnormality in a seven-month-old crossbreed dog that presented for chronic right pelvic limb lameness as a result of secondary developmental patella luxation...
March 26, 2024: Journal of the South African Veterinary Association
https://read.qxmd.com/read/38533559/scleral-fixated-vs-iris-fixated-intraocular-lens-in-pediatric-ectopia-lentis-a-systematic-review
#26
REVIEW
Siti Halida Zoraida Soraya Alamsjah, Dian Estu Yulia, Sabrina Tan
Numerous intraocular lens (IOLs) options are available for treating pediatric ectopia lentis, and this paper reviews recent literature on pediatric ectopia lentis treatment with iris-fixated and scleral-fixated IOLs. A comprehensive search was undertaken on PubMed, Embase, ProQuest, Cochrane, Wiley, SCOPUS, and EBSCO. Studies published in the last ten years that met the inclusion criteria were included in this review. Seventeen studies exhibiting low to moderate risk of bias were included in this review, with eight on iris-fixated IOL (IFIOL), six on scleral-fixated IOL (SFIOL), and three on both IOLs...
March 27, 2024: European Journal of Ophthalmology
https://read.qxmd.com/read/38533320/displacement-of-abdominal-organs-into-the-thoracic-cavity-a-rare-case-of-adult-bochdalek-hernia
#27
Sien Hu, Xiaohui Yang, Yulian Wu
Congenital diaphragmatic hernias are primarily found in infants and have a high mortality rate due to neonatal respiratory distress. The most common type of congenital diaphragmatic hernia is Bochdalek hernia, which occurs in the posterolateral diaphragm, with the left side being the most commonly affected. However, congenital diaphragmatic hernias are extremely rare in adults and are often misdiagnosed due to their subtle symptoms. Therefore, we suggest that a contrast-enhanced CT scan should be used for early screening and diagnosis in all patients with sudden severe pain or recurrent ambiguous symptoms in the chest and abdomen...
March 2024: Curēus
https://read.qxmd.com/read/38533296/retrospective-comparative-analysis-of-neonatal-mortality-and-morbidity-in-preterm-singleton-and-multiple-births-single-center-experience
#28
JOURNAL ARTICLE
Mohammad Alhasoon, Bader Alqahtani, Mohamad Alreefi, Abdulaziz Homedi, Ghadah Alnami, Saif Alsaif, Kamal Ali
Objective. To compare mortality and major neonatal morbidities between singleton preterm infants and preterm infants of multiple gestations born <33 weeks' gestation. Method. Case-control study of preterm multiples and singletons <33 weeks' born at King Abdul-Aziz Medical City Riyadh (KAMC-R) between January 2017 and December 2020. Out-born infants and infants with lethal congenital abnormalities were excluded from the study. Mortality and major neonatal morbidities including bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), sepsis and surgical necrotizing enterocolitis (NEC) were compared between preterm singletons and multiples...
2024: Global Pediatric Health
https://read.qxmd.com/read/38533278/prevalence-of-congenital-hypothyroidism-in-india-mapping-and-critical-appraisal
#29
JOURNAL ARTICLE
Vijaya Sarathi, Siddu Nikith
No abstract text is available yet for this article.
2024: Indian Journal of Endocrinology and Metabolism
https://read.qxmd.com/read/38533138/successful-laparoscopic-treatment-of-morgagni-s-hernia-in-an-elderly-female-presenting-as-a-hypoxemic-hypercapnic-respiratory-distress
#30
Farah Assi, Ali Mecheik, Hassan Zghaib, Houssein Haidar Ahmad
Morgagni's hernia (MH) occurs when the abdominal viscera herniates into the thoracic cavity through a congenital anatomical defect in the diaphragm, termed the foramen of Morgagni. Although it is more frequently detected in childhood, its delayed presentation in adults and the elderly could be easily overlooked due to the non-specificity of its symptoms. Here, we report the case of an elderly female who presented purely with dyspnea and desaturation, necessitating admission to the intensive care unit. Her computed tomography (CT) scan revealed the presence of MH with complete lobar collapse...
February 2024: Curēus
https://read.qxmd.com/read/38532942/role-of-practice-standardization-in-outcome-optimization-for-cdh
#31
REVIEW
Alexandra Dimmer, Robert Baird, Pramod Puligandla
Standardization of care seeks to improve patient outcomes and healthcare delivery by reducing unwanted variations in care as well as promoting the efficient and effective use of healthcare resources. There are many types of standardization, with clinical practice guidelines (CPGs), based on a stringent assessment of evidence and expert consensus, being the hallmark of high-quality care. This article outlines the history of CPGs, their benefits and shortcomings, with a specific focus on standardization efforts as it relates to congenital diaphragmatic hernia management...
2024: World journal of pediatric surgery
https://read.qxmd.com/read/38532911/computed-tomography-diagnostic-detection-of-complete-pericardial-agenesis-a-case-report
#32
Cesare Oliveti, Nicoletta Signati, Claudia Italia Maria De Santis, Roberta Mancini, Danilo Flauti, Giuseppe Lucio Cascini
Congenital complete absence of the pericardium is a rare condition, often difficult to diagnose due to its incidental discovery or nonspecific clinical manifestations. Instrumental investigations commonly used as initial approaches, such as chest radiography and electrocardiogram, are often insufficient. Echocardiography is an imaging technique that is used for the initial evaluation of pericardial diseases. However, echocardiography does not offer a physiological anatomical delineation of the pericardium and can be affected by operator dependency, acoustic and nontraditional imaging windows...
June 2024: Radiology Case Reports
https://read.qxmd.com/read/38532895/cryptorchidism-and-puberty
#33
REVIEW
Wiwat Rodprasert, Helena E Virtanen, Jorma Toppari
Cryptorchidism is the condition in which one or both testes have not descended adequately into the scrotum. The congenital form of cryptorchidism is one of the most prevalent urogenital anomalies in male newborns. In the acquired form of cryptorchidism, the testis that was previously descended normally is no longer located in the scrotum. Cryptorchidism is associated with an increased risk of infertility and testicular germ cell tumors. However, data on pubertal progression are less well-established because of the limited number of studies...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38532859/uniportal-video-assisted-thoracoscopic-surgery-in-the-prone-position-for-esophageal-bronchogenic-cyst
#34
Yeon Soo Kim
Esophageal bronchogenic cysts are very rare. A bronchogenic cyst is a congenital malformation resulting from abnormal sprouting of primitive bronchi because of a foregut bronchopulmonary malformation. An 18-year-old patient with a cystic tumor in the left posterior mediastinum was identified. The mediastinal tumor was removed by uniportal video-assisted thoracoscopic surgery. The operation was performed in the prone position through a single 4-cm incision on the lateral scapular line in the left ninth intercostal space...
March 2024: Journal of Surgical Case Reports
https://read.qxmd.com/read/38532802/patisiran-exposure-in-early-pregnancy-a-case-report
#35
Valentin Loser, Thomas Baumgartner, Hélène Legardeur, Alice Panchaud, Marie Théaudin
We describe here the first case of exposure to patisiran treatment, a small interfering RNA molecule, during early pregnancy of a 36-year-old woman with symptomatic hereditary transthyretin-related amyloidosis. There were no major complications during pregnancy and delivery, except for a postpartum hemorrhage due to uterine atony. Vitamin A levels had to be closely monitored during pregnancy, and vitamin A substitution adapted accordingly. There was no sign of minor or major congenital abnormalities of the baby...
2024: Therapeutic Advances in Neurological Disorders
https://read.qxmd.com/read/38532765/changes-in-functional-meniscal-morphology-during-skeletal-growth-and-maturation
#36
JOURNAL ARTICLE
Shankar G Kaushal, Samuel C Barnett, Shayan Hosseinzadeh, Gabriel S Perrone, Ata M Kiapour
BACKGROUND: Little is known on how meniscal morphology develops during skeletal growth and maturation and its subsequent relationship with the corresponding bony anatomy. HYPOTHESES: (1) Meniscal dimensions and morphology would change by age during skeletal growth and maturation in different ways in boys compared with girls. (2) Morphological features of the medial and lateral menisci would correlate to medial and lateral femoral condyle curvatures. STUDY DESIGN: Cross-sectional study; Level of evidence, 3...
March 2024: Orthopaedic Journal of Sports Medicine
https://read.qxmd.com/read/38532750/noninvoluting-congenital-hemangiomas-with-hypovolemic-shock-anemia-and-prolonged-jaundice-in-a-neonate-a-case-report
#37
Mansoor Aslamzai, Turyalai Hakimi, Mesbahullah Mushoud, Abdul Hakim Mukhlis
Noninvoluting congenital hemangioma is an extremely rare congenital anomaly in newborn babies and may complicate life-threatening events, including hemorrhage. We present a very rare case of noninvoluting congenital hemangiomas in an Asian and Afghan six-day-old girl that was detected at birth. The noninvoluting congenital hemangiomas were accompanied by hypovolemic shock, anemia, and prolonged jaundice during the first two weeks of life. These diseases were diagnosed by medical history, physical examination, blood analysis, and doppler ultrasonography of the skin lesions...
March 2024: Oxford Medical Case Reports
https://read.qxmd.com/read/38532336/pathfinder-chd-prospective-registry-on-adults-with-congenital-heart-disease-abnormal-ventricular-function-and-or-heart-failure-as-a-foundation-for-establishing-rehabilitative-prehabilitative-preventive-and-health-promoting-measures-rationale-aims-design-and
#38
JOURNAL ARTICLE
Sebastian Freilinger, Harald Kaemmerer, Robert D Pittrow, Stefan Achenbach, Stefan Baldus, Oliver Dewald, Peter Ewert, Annika Freiberger, Matthias Gorenflo, Frank Harig, Christopher Hohmann, Stefan Holdenrieder, Jürgen Hörer, Michael Huntgeburth, Michael Hübler, Niko Kohls, Frank Klawonn, Rainer Kozlik-Feldmann, Renate Kaulitz, Dirk Loßnitzer, Friedrich Mellert, Nicole Nagdyman, Johannes Nordmeyer, Benjamin A Pittrow, Leonard B Pittrow, Carsten Rickers, Stefan Rosenkranz, Jörg Schelling, Christoph Sinning, Mathieu N Suleiman, Yskert von Kodolitsch, Fabian von Scheidt, Ann-Sophie Kaemmerer-Suleiman
BACKGROUND: Adults with congenital heart defects (ACHD) globally constitute a notably medically underserved patient population. Despite therapeutic advancements, these individuals often confront substantial physical and psychosocial residua or sequelae, requiring specialized, integrative cardiological care throughout their lifespan. Heart failure (HF) is a critical challenge in this population, markedly impacting morbidity and mortality. AIMS: The primary aim of this study is to establish a comprehensive, prospective registry to enhance understanding and management of HF in ACHD...
March 26, 2024: BMC Cardiovascular Disorders
https://read.qxmd.com/read/38532265/clinical-and-magnetic-resonance-imaging-findings-in-a-french-bulldog-puppy-with-genetically-confirmed-congenital-hypothyroidism
#39
Katia Sánchez González, Harry Warwick, Marius Conradie, Neringa Alisauskaite
A 7-month-old male French bulldog was referred for abnormal mentation and gait. Physical examination revealed a dome shaped calvarium and persistent bregmatic fontanelle. Neurological examination revealed proprioceptive ataxia, pelvic limb paraparesis and strabismus with moderate ventriculomegaly, thinning of the cerebral parenchyma, and widened cerebral sulci on magnetic resonance imaging. Masses were identified in the region of the thyroid, which appeared heterogeneous and hyperintense in T1-weighted and T2-weighted compared with the adjacent muscle signal masses were identified...
March 26, 2024: Journal of Veterinary Internal Medicine
https://read.qxmd.com/read/38532254/clinical-outcomes-of-20-brachycephalic-dogs-with-thoracolumbar-spinal-deformities-causing-neurological-signs-treated-with-spinal-stabilization-using-3d-printed-patient-specific-drill-guides
#40
JOURNAL ARTICLE
Francesca Violini, James H Elford, Thomas J A Cardy, Bill Oxley, Andrew Craig, Sebastien Behr
OBJECTIVE: To describe the clinical outcomes for pugs and French bulldogs with congenital vertebral malformations, undergoing thoracolumbar spinal stabilization surgery using 3D-printed patient-specific drill guides. To evaluate the accuracy of pedicle screw placement in this group of dogs. STUDY DESIGN: Retrospective descriptive study. ANIMALS: Twenty dogs (12 pugs and eight French bulldogs). METHODS: Medical records searched between August 2018 and March 2021 for pugs and French bulldogs diagnosed with congenital vertebral abnormalities via magnetic resonance imaging (MRI) scan and computed tomography (CT) scan causing T3-L3 myelopathy signs that underwent spinal stabilization surgery using 3D-printed patient-specific drill guides followed by a postoperative CT scan...
March 26, 2024: Veterinary Surgery
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