A total of 104522 babies were delivered at the Riyadh Armed Forces Hospital between 1979 and 1998, including 807 stillbirths and 658 neonatal deaths. The 20-year period was divided into four 5-yearly intervals for comparative purposes. The overall Perinatal Mortality Rate (PMR) for infants weighing 500 grams or more ranged between 20.2 per 1000 in 1979 and 13 per 1000 in 1998. The lowest PMR of 10.3 per 1000 was recorded in 1985. Thirty-one per cent of the perinatal deaths were unbooked. The corrected neonatal death rate (excluding congenital anomalies) dropped from 10.1 per 1000 in 1979 to 1.7 per 1000 live births in 1998 - The corrected stillbirth rate dropped from 12.1 per 1000 births in 1979 to six per 1000 in 1998. Of the 807 stillbirths, 24.1% had lethal congenital anomalies while 29.5% were unexplained, 4% had hydrops fetalis, 2% died as a consequence of toxaemia of pregnancy, 7.5% were associated with antepartum haemorrhage, 7.9% were mechanical, related to cord accident and ruptured uterus, 9.8% died as a consequence of maternal disease, 5.4% of intrapartum asphyxia and 6.4% placental insufficiency. Of the 658 neonatal deaths, 47.5% had lethal congenital anomalies, 2% had hydrops fetalis, 7.6% died as a result of intrapartum asphyxia, 38% died as a result of prematurity with its complications of severe respiratory dysfunction and intraventricular and pulmonary haemorrhage, 4.1% died in NICU of secondary infection and 0.7% were unclassified. The overall PMR for infants weighing 500 grams or more was 14.1 per thousand. Congenital anomalies and low birth weight/prematurity accounted for 85.5% of the neonatal deaths. Congenital anomalies and unexplained deaths accounted for 53% of total stillbirths while maternal disease was responsible for 9.8% of total stillbirths. Reducing congenital anomalies and preventing prematurity and provision of good antenatal care will help in reducing PMR still further.
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http://dx.doi.org/10.1080/01443610020022122 | DOI Listing |
JBJS Case Connect
October 2024
Department of Orthopaedics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Case: An 8-year-old girl with NF1 and congenital tibial dysplasia with significant bilateral tibial bowing underwent McFarland procedures. Now age 22 with 14-year follow-up indicating sustained correction and healing of her bilateral limb deformities.
Conclusion: This case illustrates the McFarland procedure provided adequate corrective treatment of this deformity and remains a success at long-term follow-up.
PLoS One
January 2025
Institute for Biomedical Ethics, University of Basel, Basel, Switzerland.
Introduction: 22q11 deletion syndrome (22q11DS) results from a microdeletion on chromosome 22 and is the most common microdeletion disorder in humans, affecting 1 in 2148 live births. Clinical manifestations vary widely among individuals and across different life stages. Effective management requires the involvement of a specialized multidisciplinary team.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Homburg/Saar, Germany, Saarland University, Homburg/Saar, Germany.
Purpose: This study evaluates the microRNA (miRNA) expression profile in primary limbal epithelial cells (pLECs) of patients with aniridia.
Methods: Primary human LECs were sampled and isolated from 10 patients with aniridia and 10 healthy donors. The miRNA profile was analyzed using miRNA microarrays.
Curr Cardiol Rep
January 2025
Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina (ASUGI), European Reference Network for Rare, University of Trieste, Via P. Valdoni 7, 34100, Trieste, Italy.
Purpose Of Review: Hot phases are a challenging clinical presentation in arrhythmogenic cardiomyopathy (ACM), marked by acute chest pain and elevated cardiac troponins in the absence of obstructive coronary disease. These episodes manifest as myocarditis and primarily affect young patients, contributing to a heightened risk of life-threatening arrhythmias and potential disease progression. This review aims to synthesize recent research on the pathophysiology, diagnostic challenges, and therapeutic management of hot phases in ACM.
View Article and Find Full Text PDFHum Genet
January 2025
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Developmental anomalies of the hearing organ, the cochlea, are diagnosed in approximately one-fourth of individuals with congenital. The majority of patients with cochlear malformations remain etiologically undiagnosed due to insufficient knowledge about underlying genes or the inability to make conclusive interpretations of identified genetic variants. We used exome sequencing for the genetic evaluation of hearing loss associated with cochlear malformations in three probands from unrelated families deafness.
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