Results 71 to 80 of about 222,381 (312)

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Neonatal mortality in the developing world [PDF]

This paper examines age patterns and trends of early and late neonatal mortality in developing countries, using birth history data from the Demographic and Health Surveys (DHS). Data quality was assessed both by examination of internal consistency and by
Kenneth Hill, Yoonjoung Choi
core  

Retrospective comparative evaluation of the lasting impact of a community-based primary health care programme on under-5 mortality in villages around Jamkhed, India. [PDF]

, 2010
OBJECTIVE: To conduct the first rigorous evaluation of the long-term effect of the Comprehensive Rural Health Project on childhood mortality in rural Maharashtra.
Eble, Alex, Vera Mann, Mann, Vera, Ramaswamy Premkumar, Alex Eble, Chris Frost, Peter Boone, Frost, Chris, Premkumar, Ramaswamy, Boone, Peter   +9 more
core   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Survey of characteristics of neonatal death in neonatal intensive care unit of Boo-Ali Sina educational & therapeutic center between 2003-2006

Journal of Mazandaran University of Medical Sciences, 2009
, , , (Received 24 June, 2009 ; Accepted 16 September, 2009)AbstractBackground and purpose: The neonatal mortality rate is an important index for evaluation of public health. It involves the death of infants under 28 days.
Azita Bala Ghafari, Hasan Siamian, Kobra Aligolbandi, Seyyede Shahrbanu Rashida   +3 more
doaj  

25(OH)vitamin D inflammatory and oxidative stress markers in healthy Holstein cows and cows with peri-partum diseases during the transition period

Scientific Reports
In dairy cows, the immune system is suppressed around calving, predisposing them to infectious diseases. This study investigated vitamin D levels and various immunological and oxidative stress markers in cows suffering from peri-parturient diseases ...
Saba Ahmadi Sheikhsarmast, Ali Afshar Bahrabad, Nima Farzaneh, Mehrdad Mohri   +3 more
doaj   +1 more source

The impact of recycled neonatal incubators in Nigeria: a 6-year follow-up study. [PDF]

, 2010
26.02.14 KB. OK to add to published version to spiral, OA paperNigeria has a record of high newborn mortality as an estimated 778 babies die daily, accounting for a ratio of 48 deaths per 1000 live births.
Edna O. Iroha, Mohammed B. Kawuwa, Offiong, UR, Akin Osibogun, Olateju, E, Ezeaka, C, Eyinade Olateju, Adimora, GN, Kuranga, SA, Uriah S. Etawo, Ngozi Ibeziako, Abdulhameed I. Dutse, Olugbenga Ayodeji Mokuolu, Gilbert N. Adimora, Mokuolu, OA, Dutse, AI, Iroha, EO, Ibeziako, N, Jonathan C. Azubuike, Sulyman A. Kuranga, Etawo, US, Uduak R. Offiong, Hippolite Onyejiaka Amadi, Chukwu, CO, Amadi, HO, El-Nafaty, AU, Azubuike, JC, Osibogun, A, Okpere, EE, Kawuwa, MB, Chinyere Ezeaka, Christian O. Chukwu, Eugene E. Okpere, Aliyu U. El-Nafaty   +33 more
core   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Study on fungal contaminants in aborted calves of cattle herds in Iran

Veterinary Medicine and Science
Background/Objective Abortions in livestock herds are a major contributor to economic losses. The incidence of fungal aetiology has been reported thus far.
Samaneh Eidi, Hesam A. Seifi, Soheil Sadr, Hamideh Zeinali   +3 more
doaj   +1 more source