Publications by authors named "Akinobu Miura"
Hearing loss with two pathogenic variants and positive thyroid autoantibody: A case report.
Clin Pediatr Endocrinol
October 2024
Article Synopsis
- Pendred syndrome (PS) is identified by issues like goiter, abnormal thyroid tests, and hearing loss, which can also occur alongside nonsyndromic hearing loss due to different underlying causes.
- A case study of a girl showed that she had hearing loss, vestibular aqueduct enlargement, and two genetic variants linked to PS, as well as a positive thyroid peroxidase (TPO) antibody.
- Despite normal thyroid function tests and mild enlargement of the thyroid gland, the girl is suspected to have both Pendred syndrome and Hashimoto's thyroiditis, indicating a need for careful monitoring due to the increased risk of hypothyroidism from these conditions.
Article Synopsis
- 49,XXXYY is a rare sex chromosomal aneuploidy, with only seven global cases, none reported in Japan, and is linked to Klinefelter syndrome.
- A case study of a Japanese man with this condition revealed developmental delays and various physical abnormalities, leading to a diagnosis at age 3 following a chromosome test.
- He has been successfully treated with testosterone replacement therapy, showing no complications, and this report aims to improve understanding and management of 49,XXXYY for future cases.
Lipopolysaccharide-responsive beige-like anchor (LRBA) deficiency is a subtype of common variable immune deficiency (CVID). Numerous case reports and cohort studies have described a broad spectrum of clinical manifestations and variable disease phenotypes, including immune dysregulation, enteropathy, and recurrent infections. Although LRBA deficiency is an autosomal recessive primary immunodeficiency resulting in a phenotype similar to CVID, it is a monogenic disease and separate from CVID.
View Article and Find Full Text PDF[Abdominal ultrasound: liver, gallbladder, bile duct, spleen].
Nihon Hoshasen Gijutsu Gakkai Zasshi
June 2004