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Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c.364_366dupGTG) inherited from their asymptomatic father.
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http://dx.doi.org/10.1016/j.bcmd.2020.102462 | DOI Listing |
J Gastrointest Cancer
August 2025
The Third Bethune Hospital of Jilin University, Changchun, Jilin, China.
Introduction: Intrahepatic biliary neuroendocrine neoplasms (NENs) are rare neoplasms originating from neuroendocrine cells in the intrahepatic bile ducts. Patients often present without hormone-related symptoms but are admitted due to jaundice or abdominal pain.
Presentation Of Case: This case report describes a 57-year-old female patient who experienced intermittent upper abdominal pain for one month prior to admission.
Midwifery
August 2025
Department of Anesthesiology, The third affiliated hospital of Sun Yat-Sen University. Address: Tianhe Road NO.600, Tianhe district, Guangzhou City, Guangdong Province 510630, China. Electronic address:
Background: Cesarean delivery on maternal request (CDMR) has been associated with an elevated a higher incidence of postpartum maternal and neonatal complications when compared to vaginal delivery. However, there is a notable lack of research investigating the influence of parity on the maternal and neonatal complications linked to CDMR, particularly within the Chinese population. This prospective cohort study, conducted in China, aims to investigate the short-term maternal and neonatal complications associated with CDMR among low-risk nulliparous and parous populations.
View Article and Find Full Text PDFFront Pediatr
July 2025
Department of Neonatology, Peking University First Hospital, Beijing, China.
Background: Hemophilia A is a rare X-linked recessive bleeding disorder characterized by coagulation factor VIII (FVIII) deficiency or dysfunction. While most cases present during early childhood with joint or soft tissue bleeding, neonatal-onset hemophilia A is uncommon and often difficult to diagnose owing to its nonspecific symptoms. Early recognition and a multidisciplinary management approach are critical for preventing life-threatening complications.
View Article and Find Full Text PDFDig Dis Sci
July 2025
State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers and National Clinical Research Center for Digestive Diseases, Xijing Hospital of Digestive Diseases, Fourth Military Medical University, No.169 Changle West Road, Xi'an, 710032, China.
Background: Implantation of irradiation stents demonstrates superiority over conventional metal stents in terms of stent patency and survival for patients with distal malignant biliary obstruction. Here, we aimed to explore the efficacy and advantages of irradiation stents compared with conventional metal stents in patients with unresectable malignant hilar biliary obstruction (MHBO).
Method: Unresectable MHBO patients treated with irradiation stents (IS group) were prospectively enrolled and followed up, and patients treated with conventional stents (CS group) were retrospectively enrolled by propensity score matching.
BMC Gastroenterol
July 2025
International Medical Center, Endoscopy Center and Gastroenterology Department, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Background: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder with heterogeneous clinical manifestations. This study aimed to characterize the clinical, biochemical, and genetic spectrum of NICCD and evaluate treatment outcomes.
Methods: This retrospective cohort study analyzed molecularly confirmed cases of NICCD admitted to Shenzhen Children's Hospital between March 2019 and April 2023.