Results 41 to 50 of about 241,099 (281)

Feasibility Study For Birth Defect’s and Congenital Abnormalities’s Integrated Service In A Low-Middle Income Country

Indonesian Journal of Obstetrics and Gynecology
Background: Congenital abnormalities are anatomical and physiological abnormalities that are present in babies from birth. One of the main causes of high infant mortality and neonatal mortality in Indonesia is congenital abnormalities in babies.
Yudianto Budi Saroyo, Mohammad Adya Firmansha Dilmy, Cut Tisya Salsabila Putri, Rachelya Nurfirdausi Islamah, Jenica Xaviera Budiman, Amanda Rumondang, Yuditiya Purwosunu, Rima Irwinda, Rinawati Rohsiswatmo   +8 more
doaj   +1 more source

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation [PDF]

, 2011
Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children.
van Reeuwijk, Jeroen, Schuurs-Hoeijmakers, Janneke H. M., Lehle Ludwig, Schuurs-Hoeijmakers, J.H., Lorber, A., Lorber, Avraham, Zucker, N., Janneke H M Schuurs-Hoeijmakers, Zucker Nili, Grünewald Stephanie, de Brouwer Arjan P. M., Wevers, R.A., Steenbergen, Gerry, Lefeber, D.J., Steenbergen, G.C., Lammens, M.M.Y., Ron A Wevers, Adam Jozwiak, Schuurs-Hoeijmakers, Janneke H M, Wevers, Ron A., Huijben, K., Grunewald, S., Lefeber, Dirk J, Gruenewald, Stephanie, Wevers, Ron A, Willem M R van den Akker, van den Akker, Willem M. R., de Brouwer, Arjan P. M., van Bokhoven, H., Steenbergen Gerry, Hanna Mandel, Riemersma Moniek, Riemersma, Moniek, Gerry Steenbergen, Riemersma, M., Stephanie Grünewald, Lammens, Martin, Dirk J Lefeber, Eva Morava, Absmanner, B., Morava Eva, Verrijp, K., Knopf, Carlos, Verrijp, Kiek, Knopf, C., van Bokhoven, Hans, Brouwer, A.P.M. de, van den Akker Willem M. R., Nili Zucker, Jeroen van Reeuwijk, Mandel, H., Lammens Martin, Martin Lammens, Jozwiak, Adam, Carlos Knopf, de Brouwer, A.P., Absmanner, Birgit, Mandel Hanna, Hans van Bokhoven, Reeuwijk, J. van, Jozwiak, A., Ludwig Lehle, Schuurs-Hoeijmakers Janneke H. M., Lehle, Ludwig, Lorber Avraham, Huijben Karin, van Reeuwijk, J., Zucker, Nili, Hijben, K., van den Akker, Willem M R, Birgit Absmanner, Absmanner Birgit, Avraham Lorber, Steenbergen, G., Huijben, Karin, Wevers Ron A., Mandel, Hanna, Knopf Carlos, Kapusta, Livia, Lefeber, Dirk J., Livia Kapusta, Verrijp Kiek, van den Akker, W.M., Grunewald, Stephanie, van Bokhoven Hans, Morava, E., Akker, W.M.R. van den, Moniek Riemersma, Bokhoven, H. van, Lefeber Dirk J., Jozwiak Adam, Lehle, L., Kapusta, L., Lammens, M., van Reeuwijk Jeroen, Karin Huijben, Schuurs-Hoeijmakers, J.H.M., Morava, Eva, Kapusta Livia, Arjan P M de Brouwer, Kiek Verrijp   +100 more
core   +1 more source

Zika virus infection as a cause of congenital brain abnormalities and Guillain-Barré syndrome: systematic review [PDF]

, 2016
BACKGROUND The World Health Organization (WHO) stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain-Barré syndrome (GBS) and of microcephaly and other congenital ...
Porgo, Teegwendé V, Olufemi T. Oladapo (763006), Teegwendé V Porgo, Fabienne Krauer, Nathalie J. Broutet (3611078), Anina Haefliger, Broutet, Nathalie J, Anina Haefliger (3611081), Riesen, Maurane, Oladapo, Olufemi T, Nicola Low, Maurane Riesen (3611075), Nathalie J Broutet, Ruth Martínez-Vega (704834), Olufemi T Oladapo, Krauer, Fabienne, Maurane Riesen, Martínez-Vega, Ruth, Ludovic Reveiz (196131), Teegwendé V. Porgo (3611084), Ruth Martínez-Vega, Nicola Low (62560), Fabienne Krauer (103598), Ludovic Reveiz, WHO Zika Causality Working Group, Reveiz, Ludovic, Haefliger, Anina, Low, Nicola   +27 more
core   +1 more source

Unilateral absence of the left pulmonary artery with patent ductus arteriosus and interrupted inferior vena cava

Türk Kardiyoloji Derneği Arşivi, 2014
Unilateral absence of the pulmonary artery and interrupted inferior vena cava are rare congenital disorders. The clinical presentation is variable, and many patients can be asymptomatic for many years and even throughout their lives.
Burçak Kılıçkıran Avcı, Bilgehan Karadağ, Hasan Tüzün, Zeki Öngen   +3 more
doaj   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

The Success Rate for Diagnosing Congenital Anomalies During Prenatal

Obgynia
Introduction: This study aimed to determine the success of prenatal diagnosis in cases of congenital abnormalities at RSHS Bandung. Methods: This study was descriptive and cross-sectional.
Silva Elifa Firmansyah, Adhi Pribadi, Akhmad Yogi Pramatirta, Anita Rachmawati, Andi Rinaldi   +4 more
doaj   +1 more source

Role of MDCT in evaluation of congenital and acquired anomalies of pulmonary venous drainage

The Egyptian Journal of Radiology and Nuclear Medicine, 2018
Objective: This work aimed for detection of different congenital and acquired abnormalities affecting the pulmonary veins using multislice computed tomography (MSCT). Patients and methods: This study was carried on 74 patients.
Youssriah Yahia Sabri, Marwa Moawed, Takeya Ahmed Taymour, Sally Foad Tadros   +3 more
doaj   +1 more source

Congenital lung abnormalities on magnetic resonance imaging: the CLAM study [PDF]

, 2023
Objectives: Follow-up of congenital lung abnormalities (CLA) is currently done with chest computer tomography (CT). Major disadvantages of CT are exposure to ionizing radiation and need for contrast enhancement to visualise vascularisation.
Elders, Bernadette, Harm A. W. M. Tiddens, J. Marco Schnater, Wielopolski, Piotr A, Schnater, Marco; id_orcid, Schnater, Marco, Ciet, Pierluigi, Piotr A. Wielopolski, Hermelijn, Sergei M, Tiddens, Harm A W M, Wielopolski, Piotr, Schnater, J Marco, Kersten, Casper, Casper M. Kersten, Pierluigi Ciet, Hermelijn, Sergei, Elders, Bernadette B L J, Sergei M. Hermelijn, Kersten, Casper; id_orcid, Kersten, Casper M, Tiddens, H.A.W.M., Bernadette B. L. J. Elders   +21 more
core   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source