Results 61 to 70 of about 399,368 (309)

Rates and Causes of Death in Chiradzulu District, Malawi, 2008: A Key Informant Study [PDF]

, 2010
In September 2008, we measured all-cause mortality in Chiradzulu District, Malawi (population 291 000) over a 60-day retrospective period, using capture-recapture analysis of three lists of deaths provided by (i) key community informants, (ii) graveyard ...
Adjuik, Baiden, Doctor, Fienberg, Hosegood, International Working Group for Disease Monitoring and Forecasting, Jahn, Mathers, Roberts, Setel, World Health Organization   +10 more
core   +2 more sources

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

FAKTOR­-FAKTOR RISIKO TERJADINYA ASFIKSIA NEONATORUM DI RSD JOMBANG PERIODE 1 JANUARI ­- 31 DESEMBER 2007 [PDF]

, 2009
Neonatal Asphyxia is an emergency condition when the baby failed to breath spontaneously and regularly after they were born. Neonatal asphyxia remains the main cause of neonatal mortality as well as permanent neurological abnormality.
SUNDARI TIKA, TRI
core  

Current status of laboratory and imaging diagnosis of neonatal necrotizing enterocolitis [PDF]

, 2018
Necrotizing enterocolitis continues to be a devastating disease process for very low birth weight infants in Neonatal Intensive Care Units. The aetiology and pathogenesis of necrotizing enterocolitis are not definitively understood.
Corsello G, D'Angelo G, Falsaperla R, Gitto E, Impellizzeri P, Marseglia L, Montalto AS, Romeo C, Russo T, Salamone I   +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

The Change of Perinatal Mortality Over Three Decades in a Reference Centre in the Aegean Region: Neonatal Mortality has decreased but Foetal Mortality Remains Unchanged

Balkan Medical Journal, 2017
Background: Perinatal, foetal and neonatal mortality statistics are important to show the development of a health care system in a country. However, in our country there are very few national and regional data about the changing pattern of perinatal ...
Nilgün Kültürsay, Niyazi Aşkar, Demet Terek, Ahmet Özgür Yeniel, Özge Altun Köroğlu, Mehmet Yalaz, Ferda Özkınay, Mete Akısü   +7 more
doaj   +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

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

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

Data quality monitoring and performance metrics of a prospective, population-based observational study of maternal and newborn health in low resource settings [PDF]

, 2015
BACKGROUND: To describe quantitative data quality monitoring and performance metrics adopted by the Global Network´s (GN) Maternal Newborn Health Registry (MNHR), a maternal and perinatal population-based registry (MPPBR) based in low and middle income ...
Althabe, Fernando, Bhalachandra, Kodkany S., Bose, Carl L., Carlo, Waldemar A., Chomba, Elwyn, Derman, Richard J, Dhaded, Sangappa M., Esamai, Fabian, Garces, Ana, Goldenberg, Robert L., Goudar, Shivaprasad S., Hambidge, Michael K., Hibberd, Patricia L., Honnungar, Narayan V., Koso Thomas, Marion, Krebs, Nancy F., Liechty, Edward A., Mastiholi, Shivanand C., Moore, Janet L., Pasha, Omrana, Patel, Archana, Ramadurg, Umesh Y., Stolka, Kristen B., Wallace, Dennis D.   +23 more
core   +3 more sources