Results 31 to 40 of about 343,621 (301)

Changing Mortality in Congenital Heart Disease

Journal of the American College of Cardiology, 2010
This study sought to characterize temporal trends in all-cause mortality in patients with congenital heart disease (CHD).Historically, most deaths in patients with CHD occurred in early childhood. Notable advances have since been achieved that may impact on mortality trends.We conducted a population-based cohort study of patients with CHD in Quebec ...
Khairy, Paul, Ionescu-Ittu, Raluca, Mackie, Andrew S., Abrahamowicz, Michal, Pilote, Louise, Marelli, Ariane J.   +5 more
openaire   +2 more sources

Bathing trunk naevus: a case report with dermoscopic findings in a brown child

Pigment International, 2021
Giant congenital melanocytic naevus is a naevus measuring more than 20 cm in adulthood. Its incidence is 1:20,000 and is more common in girls. Bathing trunk naevus, a specific form of giant congenital melanocytic naevus is even rarer with incidence of 1 ...
Megha Shankar, Sambasiviah Chidambara Murthy   +1 more
doaj   +1 more source

Brain structure is changed in congenital anosmia

NeuroImage, 2013
Olfactory function in healthy people correlates with structural features of both the olfactory bulb and higher order olfactory processing areas, but we do not yet know how congenital anosmia affects these latter structures. In order to examine this question closer, we acquired T1 weighted magnetic resonance images from 17 subjects with congenital ...
Johannes Frasnelli, Therese Fark, Jacqueline Lehmann, Johannes C. Gerber, Thomas Hummel 0002   +4 more
openaire   +2 more sources

Prenatal detection of congenital high airway obstruction syndrome with encephalocele

Indian Journal of Radiology and Imaging, 2016
Congenital high airway obstruction syndrome (CHAOS) causes secondary morphological changes which can be detected on ultrasound. Here we report a case of congenital high airway obstruction with an occipital encephalocele detected at 23 weeks of gestation.
Laxmi Devi Padmanabhan, Sheela Nampoothiri   +1 more
doaj   +1 more source

Imaging of congenital lung diseases presenting in the adulthood: a pictorial review

Insights into Imaging, 2021
Congenital lung diseases in adults are rare diseases that can present with symptoms or be detected incidentally. Familiarity with the imaging features of different types of congenital lung diseases helps both in correct diagnosis and management of these ...
Gamze Durhan, Selin Ardali Duzgun, Meltem Gülsün Akpınar, Figen Demirkazık, Orhan Macit Arıyürek   +4 more
doaj   +1 more source

Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis [PDF]

, 2011
Mutations in the cathepsin D (CTSD) gene cause an aggressive neurodegenerative disease (congenital neuronal ceroid lipofuscinosis) that leads to early death. Recent evidence suggests that presynaptic abnormalities play a major role in the pathogenesis of
Koch, Sabine, Cooper, Jonathan D, Svetlana M. Molchanova, Taira, Tomi, Tyynelä, Jaana, Jonathan D. Cooper, Ann K. Wright, Thomas H. Gillingwater, Sabine Koch, Andrew Edwards, Wright, Ann K, Gillingwater, Thomas H, Molchanova, Svetlana M, Jaana Tyynelä, Edwards, Andrew, Tomi Taira   +15 more
core   +1 more source

An anatomical classification of congenital proximal radioulnar synostosis based on retrospective MRI measurement combined with radiography

Scientific Reports, 2022
Existed classifications of congenital proximal radioulnar synostosis (PRUS) mainly focus on osseous changes and do not cover all types of congenital PRUS, ignoring the role and developing status of the supinator.
Jin Li, Kailei Chen, Jing Wang, Yueming Guo, Saroj Rai, Xin Tang, Chinese Multi-center Pediatric Orthopedic Study Group (CMPOS)   +6 more
doaj   +1 more source

Altered Spontaneous Brain Activity and Network Property in Patients With Congenital Monocular Blindness

Frontiers in Neurology, 2022
Individuals with congenital monocular blindness may have specific brain changes since the brain is prenatally deprived of half the normal visual input.
Jingwen Ding, Xiaoxia Qu, Jing Cui, Jie Dong, Jian Guo, Junfang Xian, Dongmei Li   +6 more
doaj   +1 more source

The influence of congenital and developmental cataract surgery on the ocular surface in a six-month follow-up prospective clinical study

BMC Ophthalmology, 2022
Background The purpose of this study was to identify changes in tear film function and meibomian gland function in children after congenital/developmental cataract surgery.
Xiaolei Lin, Hongzhe Li, Xiyue Zhou, Xin Liu, Fan Fan, Tianke Yang, Yi Luo   +6 more
doaj   +1 more source

Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling [PDF]

, 2012
Congenital hypogonadotropic hypogonadism (CHH) is characterized by low gonadotropins and failure to progress normally through puberty. Mutations in the gene encoding the GnRH receptor (GNRHR1) result in CHH when present as compound heterozygous or ...
Newton, Claire, Young, Jacques, Claire L Newton, Millar, Robert, Newton, Claire L., Guiochon-Mantel Anne, Young Jacques, Guiochon-Mantel, Anne, Millar, Robert P., Bouligand, Jerome, Newton Claire L., Millar, Robert P, Tello Javier A., Tello, Javier, Anne Guiochon-Mantel, Newton, Claire L, Tello, Javier A., Millar Robert P., Robert P Millar, Jerome Bouligand, Jacques Young, Bouligand Jerome, Tello, Javier A, Javier A Tello   +23 more
core   +1 more source