Results 41 to 50 of about 534,986 (305)

Congenital mirror movements in a new Italian family [PDF]

, 2014
Mirror movements (MMs) occur on the contralateral side of a limb being used intentionally. Because few families with congenital MMs and no other neurological signs have been reported, the underlying mechanisms of MMs are still not entirely clear.
Berardelli, Alfredo, Bologna, Matteo, Colonnese, Claudio, DI BIASIO, Francesca, Fasano, Alfonso, Grillea, Giovanni, Iezzi, Ennio, Levert, Annie, Pavone, Luigi, Rouleau, Guy A., Sebastiano, Fabio, Srour, Myriam   +11 more
core   +1 more source

Chronological changes of incidence and prognosis of children with asymptomatic congenital cytomegalovirus infection in Sapporo, Japan

BMC Infectious Diseases, 2004
Background Chronological changes of the incidence of congenital cytomegalovirus (CMV) infection and the longitudinal prognosis in children with asymptomatic congenital infection were investigated.
Fujikawa Tomoko, Numazaki Kei
doaj   +1 more source

Radiographic Prediction of the Results of Long-term Treatment with the Pavlik Harness for Developmental Dislocation of the Hip [PDF]

, 2009
In 1957, Pavlik introduced the Pavlik harness as a useful treatment for developmental dislocation of the hip (DDH), and subsequent studies have documented favorable outcomes among patients treated with this device.
Endo, Hirosuke, Minagawa, Hiroshi, Mitani, Shigeru, Ohmori, Takao, Ozaki, Toshifumi, Tetsunaga, Tomonori   +5 more
core   +1 more source

Ocular Refraction at Birth and Its Development During the First Year of Life in a Large Cohort of Babies in a Single Center in Northern Italy [PDF]

, 2020
The purpose of this study was to investigate refraction at birth and during the first year of life in a large cohort of babies born in a single center in Northern Italy.
Bartollino S., Bonfiglio V. M. E., Cillino S., Costagliola C., Filippelli M. E., Forbice E., Nascimbeni G., Semeraro F.   +7 more
core   +1 more source

Longitudinal changes in fetal head biometry and fetoplacental circulation in fetuses with congenital heart defects

Acta Obstetricia et Gynecologica Scandinavica, 2022
Introduction Objectives were to analyze changes in fetal cephalic biometry and fetoplacental circulation throughout pregnancy in fetuses with congenital heart defects. Material and methods Prospective study conducted on three university tertiary referral
Polán Ordás, Roberto Rodríguez, Beatriz Herrero, Lucía Deiros, Enery Gómez, Elisa Llurba, José Luis Bartha, Eugenia Antolín   +7 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
Andrew Edwards, Ann K. Wright, Belly, Cepeda, Garborg, Jaana Tyynelä, Jonathan D. Cooper, Klapstein, Koike, Sabine Koch, Saftig, Svetlana M. Molchanova, Thomas H. Gillingwater, Tomi Taira   +13 more
core   +1 more source

Carcinomas and Carcinoid Tumors of the Lungs and Bronchi in Children and Adolescents: The EXPeRT Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary lung carcinomas and bronchial carcinoid tumors (BC) are very rare malignancies in childhood. While typical BC and mucoepidermoid carcinomas are mostly low‐grade, localized tumors with a more favorable prognosis than in adults, necessitating avoidance of overtreatment, adenocarcinomas of the lung are often diagnosed at advanced disease ...
Michael Abele, Calogero Virgone, Michaela Kuhlen, Sabine Irtan, Yves Reguerre, Malgorzata Krawczyk, Ewa Bien, Tal Ben‐Ami, Maja Cesen, Ricardo Lopez‐Almaraz, Andrea Ferrari, Gianni Bisogno, Dominik T. Schneider, Abbas Agaimy, Constantin Lapa, Hubert Ducou le Pointe, Rainer Claus, Catherine Daniel, Ines B. Brecht, Daniel Orbach   +19 more
wiley   +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

Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]

, 2014
Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J., Nikyar, A., Nikyar, B., Qorbani, M., Sedehi, M.   +4 more
core  

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