Results 1 to 10 of about 308,656 (184)
Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report
ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid +4 more
wiley +1 more source
ABSTRACT Late vitamin K deficiency bleeding should be considered in exclusively breastfed infants presenting with seizures, pallor, or unexplained bleeding, particularly when vitamin K prophylaxis was not administered at birth. Early diagnosis and prompt vitamin K administration can rapidly correct coagulopathy and prevent life‐threatening intracranial
Yasir Khalif Ali +7 more
wiley +1 more source
ABSTRACT Biliary atresia associated with situs inversus abdominalis is a rare congenital combination that complicates diagnosis and surgical orientation. Early recognition, meticulous preoperative planning, and timely Kasai portoenterostomy can achieve favorable short‐term outcomes.
Rajabu Athumani Bakari +7 more
wiley +1 more source
ABSTRACT Common variable immunodeficiency (CVID) may initially manifest as undifferentiated connective tissue disease (UCTD) in the absence of recurrent infections or hypogammaglobulinemia. In patients presenting with warning signs, neither older age nor normal immunoglobulin levels should preclude consideration of CVID; early genetic testing is ...
Yu‐Jie Hu +4 more
wiley +1 more source
In infants with necrotising enterocolitis (NEC), excessive inflammation and epithelial cell death promote the epithelial–mesenchymal transition (EMT), leading to damage to intestinal barriers and the translocation of bacteria and toxins. In addition, inflamed epithelia release cytokines to strengthen the inflammatory response.
Xiao‐Chen Liu +12 more
wiley +1 more source
Early pregnancy vitamin D deficiency in women with overweight or obesity is associated with greater increases in LDL cholesterol and ketone bodies during gestation, as well as higher cord blood ketone levels in offspring. These findings suggest a role of maternal vitamin D status in shaping metabolic adaptations in pregnancy and fetal exposure ...
Jürgen Harreiter +24 more
wiley +1 more source
The Effect of Phototherapy on The Number of Blood Eosinophils in Neonates. A Prospective Case Control Study [PDF]
Background: Neonatal hyperbilirubinemia is one of the most common caused for NICU admission and phototherapy is the main line of treatment in most cases with indirect hyperbilirubinemia either in fullterm or preterm neonates in NICU.
Abd El-Mageed Bayomy +3 more
doaj +1 more source
Abstract Introduction Type 1 diabetes mellitus (T1DM) is associated with heightened risk of adverse pregnancy outcomes. Genetic, immune, cardiometabolic, and psychosocial differences exist between childhood‐ and adult‐onset T1DM, yet how these differences may influence pregnancy outcomes remains poorly understood.
Lucas Miranda‐Martinez +3 more
wiley +1 more source
Abstract Objective Pregnant women with type 1 diabetes (T1D) increasingly utilize hybrid closed‐loop (HCL) pumps, but pregnancy‐specific algorithms in many countries including the United States are not available. We compared pregnancy and glycemic outcomes between those intending to use off‐label automated HCL versus manual sensor‐augmented pump ...
Annabeth Brewton +11 more
wiley +1 more source
USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda +10 more
wiley +1 more source

