Results 21 to 30 of about 4,501 (218)

Congenital pulmonary airway malformation (CPAM): A case report and review of the literature

Radiology Case Reports, 2023
Congenital pulmonary airway malformation (CPAM) is a rare congenital dysplastic malformation characterized by failure of bronchial development and localized glandular overgrowth.
Krishnaraj Aryal, MBBS, Pradeep Raj Regmi, MD, Gauri Adhikari, MBBS, Ujjwal Bhhattarai, MD, Sagar Prasad Sedhain, MD   +4 more
doaj   +1 more source

Currarino triad with a duplicate anal canal presenting with an infected sacral mass

Journal of Pediatric Surgery Case Reports, 2022
Currarino syndrome is a rare congenital malformation characterised by the triad of: an anorectal malformation, sacral bony defect and presacral mass. One rare but possible anorectal malformation is an anal canal duplication, a congenital anomaly which is
Sun Woo Lee, Roy Mark Kimble, Emma Lumsden, Marilyn Wong, Dylan John Kendrick   +4 more
doaj   +1 more source

Thoracoscopic lobectomy for a 4-day-old neonate with a large congenital pulmonary airway malformation: a case report

Journal of Cardiothoracic Surgery, 2020
Background: Congenital pulmonary airway malformation is a rare congenital lung lesion. Infants with large Congenital pulmonary airway malformation can present with a series of serious symptoms. Surgery is still the main treatment. Thoracoscopic lobectomy
Jinxi Huang, Chaoming Zhou, Qiang Chen, Dianming Wu, Junjie Hong, Songming Hong   +5 more
doaj   +1 more source

Delayed diagnosis of congenital anorectal malformation

Journal of Pediatric Surgery Case Reports, 2020
Background: Congenital anorectal malformation is uncommon and often missed-diagnosed. The diagnosis can be late due to late presentation of the complaint.
Daniel Ardian Soeselo, Garry Grimaldy, Susilawati   +2 more
doaj   +1 more source

Monitoring for Congenital Malformations [PDF]

Annual Review of Public Health, 1986
Many countries instituted birth defects monitoring systems in the wake of the thalidomide tragedy. Having these systems in place will shorten the time before an alarm is signaled, should a teratogen of the potency of thalidomide be introduced. However, with stronger laws and regulations for testing drugs for adverse reproductive outcomes, a tragedy on ...
N A, Holtzman, M J, Khoury
openaire   +2 more sources

Congenital incudostapedial malformation

Indian Journal of Otolaryngology & Head and Neck Surgery, 1997
A case of bilateral symmetrical conductive deafness in a 45 year old female is presented. Tympanotomy revealed an anomaly involving the incudostapedial complex. The case is reported both because of rarity and also the anomaly encountered makes it apparently unique.
S M, Iqbal, P K, Banerjee, N, Sharma
openaire   +3 more sources

Congenital thoracic malformation [PDF]

Thorax, 2013
A 31-year-old man presented with recurrent chest pain. CT coronary arteriography (figure 1) demonstrated a well-defined area of hypertransradiancy at the left lung base supplied by a large artery arising from the thoracic aorta (figure 2) with …
Charles, Sharp, James, Jackson, George, Hands   +2 more
openaire   +2 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

ApoM maintains cellular homeostasis between mitophagy and apoptosis by affecting the stability of Nnt mRNA through the Zic3-ApoM-Elavl2-Nnt axis during neural tube closure

Cell Death and Disease
Research on the aetiology of neural tube defects (NTDs) has made progress in recent years. However, the molecular mechanism of apolipoproteins underlying NTDs development remains unclear.
Qing Liu, Dan Liu, Yuejiao Wang, Xiaowei Wei, Wei Ma, Hui Gu, Shanshan Jia, Yiwen He, Wenting Luo, Songying Cao, Zhonghua Yang, Anhua Wu, Zhengwei Yuan   +12 more
doaj   +1 more source