A family is presented in which three of four siblings had truncus arteriosus and other anomalies compatible with the third and fourth pharyngeal pouch syndrome (DiGeorge syndrome). The syndrome is uncommon and most of the reported cases have been solitary. In this family an autosomal recessive inheritance is possible.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Role of pre-sacral sentinel lymph nodes in endometrium and cervical cancer: experience with minimally invasive indocyanine green sentinel lymph node mapping.
Int J Gynecol Cancer
January 2025
Bern University Hospital and University of Bern, Department of Obstetrics and Gynecology, Bern, Switzerland.
Objective: The aim of this study was to examine the role of pre-sacral sentinel lymph nodes (SLNs) in patients with uterine cancer.
Methods: This retrospective cohort study includes patients with endometrial or cervical cancer who underwent minimally invasive indocyanine green SLN mapping at the Bern University Hospital from December 2012 to December 2022. A complete ultra-staging of the SLNs was performed in all cases.
The hypothalamus as the central regulator of energy balance and its impact on current and future obesity treatments.
Arch Endocrinol Metab
January 2025
Universidade de Campinas Centro de Pesquisa em Obesidade e Comorbidades CampinasSP Brasil Centro de Pesquisa em Obesidade e Comorbidades, Universidade de Campinas, Campinas, SP, Brasil.
The hypothalamus is a master regulator of energy balance in the body. First-order hypothalamic neurons localized in the arcuate nucleus sense systemic signals that indicate the energy stores in the body. Through distinct projections, arcuate nucleus neurons communicate with second-order neurons, which are mostly localized in the paraventricular nucleus and in the lateral hypothalamus.
View Article and Find Full Text PDFAttitudes and Perspectives of Service Providers on Persons Who Use Stimulants in Northern and Central Mexico.
Subst Use Addctn J
January 2025
Faculty of Psychology, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Background: Methamphetamine and other stimulant use are increasing across Mexico while treatment options and public funding remain scarce for substance use treatment. This study examined the attitudes and perspectives of service providers who work with persons who use stimulants in Mexico.
Methods: Semistructured qualitative interviews were conducted with 20 service providers in diverse cities in the northern and central regions of Mexico, from healthcare centers and harm reduction community-based organizations (CBOs).
The haploid induction ability analysis of various mutation of OsMATL and OsDMPs in rice.
BMC Biol
January 2025
National Engineering Research Center of Plant Space Breeding, South China Agricultural University, Guangzhou, 510642, China.
Background: The high-frequency induction rate of haploid is crucial for double haploid (DH) breeding. The combination of multiple haploid-induced genes, such as ZmPLA1/MATL/NLD and ZmDMP, can synergistically enhance the haploid induction rate (HIR) in maize. However, the potential synergistic effects between OsMATL and OsDMP genes in rice remain unclear.
View Article and Find Full Text PDFWhite noise's effect on premature infants' physiological parameters during peripheral intravenous catheter insertion.
BMC Pediatr
January 2025
Faculty of Nursing, Yasouj University of Medical Sciences, Kohkiloyeh and Boyer-Ahmad, Yasuj, Iran.
Background: Early and continuous exposure to painful stimuli in premature infants leads to short-and long-term complications. Listening to white noise is an accessible and inexpensive non-invasive method that can be used as a safe nursing intervention in hospitals. This study aimed to assess white noise's effect on premature Infants' physiological parameters during peripheral intravenous catheter insertion.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!