Genomic variants of the hepatitis B virus (HBV) preS/S protein are well-known to occur. Typically, immunity is gained through recovered HBV infection or by immunization. Very rarely, there are certain mutations that may enable HBV escape from the immune detection. PreS/S mutants may present with unpredictable pathobiologic, clinical, and transmittable implications. Standard laboratory testing for genomic HBV variants is not routinely performed by reference guidelines. s-variant HBV management remains challenging. Herein is a case of s-variant chronic HBV infection in a 55-year-old man. Diagnosis and treatment are described.
Background: Glomus tumors around the jugular foramen and inner ear can have variable presentations, including lower cranial nerve palsies, tinnitus, hearing loss, or palpable neck mass. In general, these tumors are benign paragangliomas with the definitive treatment consisting of radiosurgery or surgery. Endovascular embolization can be added as a critical adjunctive therapy to reduce the tumor vascularity before surgical resection.
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Cornelia de Lange syndrome (CdLS) is a rare developmental disorder linked to intellectual disabilities and unique facial features, with some cases caused by RAD21 gene mutations.
A 13.3-year-old male patient exhibited classic symptoms of CdLS and was found to have a specific mutation in the RAD21 gene through whole-exome sequencing.
The study highlighted this case as the third instance of CdLS type 4 in China, contributing to a broader understanding of genetic mutations associated with the disorder.
The study explores the intricate and variable blood supply to the thalamus, focusing on a specific case involving a 46-year-old patient with neurological symptoms following an ischemic stroke.
Advanced imaging techniques, including NCCT, CTA, and DSA, revealed a rare variant of thalamic blood supply (Percheron type III) that contributed to the patient's condition.
The findings suggest that better understanding thalamic vascularization through DSA can impact stroke diagnosis and differentiate between medium-sized and small vessel occlusions.
MS (multiple sclerosis) has specific criteria to avoid misdiagnosis. However, the Marburg variant of MS is so fulminant that initial axonal damage and other atypical observations have been allowed in past reports. We present a 74-year-old autopsy case with a vanishing tumor after steroids and radiation therapy, which was pathologically diagnosed as a Marburg variant with initial axonal loss.
A 7-month-old boy presented to our clinic with developmental delay, Magnetic Resonance Imaging (MRI) features of delayed myelination and diffusion restriction, and a homozygous variant of uncertain significance (c.4T>G, p.Phe2Val) in HIKESHI, a gene associated with autosomal-recessive hypomyelinating leukodystrophy 13.
