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Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
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

Late Vitamin K Deficiency Bleeding Presenting as Subacute Subdural Hemorrhage in an Exclusively Breastfed Infant: A Preventable Life‐Threatening Condition—A Case Report

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
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

Biliary Atresia With Situs Inversus Abdominalis Managed by Kasai Portoenterostomy: A Case Report From Muhimbili National Hospital, Tanzania

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
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

From Undifferentiated Connective Tissue Disease to Common Variable Immunodeficiency: A Novel NFKB1 Mutation in a Pediatric Case

open access: yesClinical Case Reports, Volume 14, Issue 9, September 2026.
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

Multiomics analyses revealed the roles of the epithelial–mesenchymal transition and novel early candidate diagnostic biomarkers in neonatal necrotising enterocolitis

open access: yesClinical and Translational Medicine, Volume 16, Issue 9, September 2026.
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

Vitamin D Deficiency During Pregnancy Is Associated With Greater LDL‐C Increase, Elevated β‐Hydroxybutyrate and Altered Neonatal Metabolic Markers—A Secondary, Pooled Analysis of the Randomized, Controlled Vitamin D and Lifestyle for Gestational Diabetes Prevention Trial (DALI)

open access: yesEndocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
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]

open access: yesAnnals of Neonatology Journal
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

Association of childhood‐ versus adult‐onset type 1 diabetes in pregnancy with maternal, neonatal, and glycemic control outcomes

open access: yesPregnancy, Volume 2, Issue 5, September 2026.
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

Pregnancy and glycemic outcomes with hybrid closed‐loop insulin delivery versus sensor‐augmented pump therapy among women with type 1 diabetes

open access: yesPregnancy, Volume 2, Issue 5, September 2026.
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

open access: yesClinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
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

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