Screening for critical congenital heart disease (CCHD) was added to the United States Recommended Uniform Screening Panel in 2011. Since that time, CCHD screening with pulse oximetry has become nearly universal for newborns born in the United States. There are various algorithms in use. Although the goal of the screening program is to identify children who may have CCHD, most newborns who have a low oxygen saturation will not have CCHD. Further study is needed to determine optimal guidelines for CCHD screening in special settings such as the neonatal intensive care unit, areas in high altitude, and home births.
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http://dx.doi.org/10.1016/j.clp.2015.11.005 | DOI Listing |
J Pediatr Endocrinol Metab
January 2025
Department of Pediatric Endocrinology, Antalya Training and Research Hospital, University of Health Sciences, Antalya, Türkiye.
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor () gene, leading to significant hypercalcemia and related complications.
Case Presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous mutation (c.242T>A; p.
Geriatr Psychol Neuropsychiatr Vieil
September 2024
CMRR CHU Toulouse, IHU Health Age, Toulouse, UMR 1297 CERPOP.
The growing prevalence of the Alzheimer's disease (AD) is an increasing public health concern that led to French recommendations for timely AD diagnosis and patient management as well as a territorial coverage of specialized structures [Memory Centers including Resources and Memory Research Centers (RMRC) and Memory Consultations (MC)]. In view of the potential availability of Disease Modifying Therapies (DMTs), this French observatory aimed to describe the current organization of the Memory Centers, and the care pathway of patients suffering from early AD. Overall, 12 of the 28 RMRC and 44 of the 250 MC solicited by the Federation of Memory Centers participated in this study.
View Article and Find Full Text PDFInfect Drug Resist
January 2025
Department of Respiratory and Critical Care Medicine, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022, People's Republic of China.
Objective: To evaluate the diagnostic performance and clinical impact of targeted next-generation sequencing (tNGS) in patients with suspected lower respiratory tract infections.
Methods: Following propensity score matching, we compared the diagnostic performances of tNGS and metagenomic next-generation sequencing (mNGS). Furthermore, the diagnostic performance of tNGS was compared with that of culture, and its clinical impact was assessed.
Cureus
December 2024
Internal Medicine, Hospital da Senhora da Oliveira, Guimarães, PRT.
Systemic lupus erythematosus (SLE) is a multisystemic connective tissue disease with a wide range of clinical and laboratory manifestations. The diagnosis of SLE is often challenging due to the great variability in its presentation, and treatment should be individualized according to the patient's manifestations and affected organs. We present the clinical case of a 25-year-old female who developed SLE with severe hematological and renal involvement as first manifestations, including hemolytic anemia, thrombocytopenia, and nephrotic syndrome.
View Article and Find Full Text PDFCureus
December 2024
Emergency, Ras Tanura General Hospital, Eastern Health Cluster, Ministry of Health, Ras Tanura, SAU.
This case highlights the critical role of early radiological screening by ultrasound in identifying uterine anomalies. In this report, we discuss a 39-year-old pregnant woman, gravida 4 para 3, and her fetus at gestational age 18 weeks. The patient was referred to the Obstetrics and Gynecology Emergency Department at Qatif Central Hospital, Saudi Arabia, from a private hospital due to an ultrasound study indicating a possible ectopic pregnancy with an abdominal fetal location.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!