Results 51 to 60 of about 1,248,660 (327)

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources

Progressive familial intrahepatic cholestasis type 4: a case report

Journal of Medical Case Reports
Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb   +6 more
doaj   +1 more source

Prevalence of Congenital Anomalies in the Japan Environment and Children’s Study

Journal of Epidemiology, 2018
Background The aims of the present report were to estimate the prevalence of congenital anomalies (CAs) among infants in Japan using data from the Japan Environment and Children’s Study (JECS) and to evaluate the validity of CA classification within JECS.
H. Mezawa, Ai Tomotaki, K. Yamamoto-Hanada, Kazue Ishitsuka, T. Ayabe, Mizuho Konishi, Mayako Saito, Limin Yang, N. Suganuma, F. Hirahara, S. Nakayama, H. Saito, Y. Ohya   +12 more
semanticscholar   +1 more source

A DNA Tetrahedron Delivery Asiatic Acid to Reprogram Mitochondrial Metabolism for Promoting Bone Regeneration via STAT3 Phosphorylation

Advanced Science, EarlyView.
A hyaluronic acid methacrylate (HAMA) hydrogel incorporating DNA tetrahedrons loaded with Asiatic acid (TDN@AA) was developed. HM‐TDN@AA promotes angiogenesis of endothelial cells (ECs), inhibits osteoclastogenesis from bone marrow–derived macrophages (BMDMs), and enhances osteogenesis of mesenchymal stem cells (MSCs) via STAT3‐mediated mitochondrial ...
Yiwen Huang, Yiming Zhang, Yisheng Feng, Qixiang Yang, Beiyuan Gao, Haiyang Xu, Cheng Huang, Kaili Lin, Yuanzhi Xu, Peiqi Zhu   +9 more
wiley   +1 more source

Congenital Anomalies

Medwave, 2012
Congenital anomalies in conjunction with intrauterine growth restriction account for 50-60% of fetal mortality. This article describes major birth defects by systems; most can be diagnosed by ultrasound while others cannot. Some anomalies develop later in pregnancy and in some cases sonographic examination may suggest the presence of a nonexistent ...
Bernardita Donoso Bernales, Enrique Oyarzún Ebensperger   +1 more
openaire   +3 more sources

Swenson-like pull-through for treatment of the rare association between Hirschsprung’s disease and anorectal malformation

BMC Pediatrics
Background Anorectal malformations and Hirschsprung’s disease are congenital conditions impacting the digestive system, with a particularly uncommon co-occurrence, estimated at 2–3% of all ARM cases.
Mohamed Abdelmalak, Mohamed Mansy, Hazem Khafaga, Yasmine Ghazaly, Reem Saeed, Nada Yakout, Saber Waheeb, Mostafa Zain   +7 more
doaj   +1 more source

Epidemiology and structure of congenital anomalies of the newborns in the region of Novi Sad (Vojvodina, Serbia) in 1996 and 2006 [PDF]

Vojnosanitetski Pregled, 2016
Background/Aim. According to the World Health Organization (WHO) definition, congenital anomalies are all disorders of the organs or tissues, regardless of whether they are visible at birth or manifest in life, and are registered in the ...
Ristivojević Anđelka, Lukić-Đokić Petra, Katanić Dragan, Dobanovački Dušanka, Jovanović-Privrodski Jadranka   +4 more
doaj   +1 more source

J Matern Fetal Neonatal Med [PDF]

, 2019
ObjectiveTo describe fetal and neonatal mortality due to congenital anomalies in Colombia.MethodsWe analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999\u20132008.ResultsThe ...
Jakfar, Jakfar
core   +1 more source

Age- and Lesion-Related Comorbidity Burden Among US Adults With Congenital Heart Disease: A Population-Based Study. [PDF]

, 2019
Background As patients with congenital heart disease (CHD) are living longer, understanding the comorbidities they develop as they age is increasingly important.
Agarwal, Anushree, Broberg, Craig S, Dudley, R Adams, Foster, Elyse, Harris, Ian S, John, Anitha, Mahadevan, Vaikom S, Marcus, Greg M, Thombley, Robert, Vittinghoff, Eric   +9 more
core   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source