Publications by authors named "A Osaka"
Case: A 40-year-old Japanese man with nonobstructive azoospermia (NOA) was found to carry rare variants in a newly identified causative gene for spermatogenic failure. This patient was identified through mutation screening of in 97 men with etiology-unknown isolated NOA.
Outcome: The patient had two heterozygous variants in that affect consensus sequences of splice-donor sites [c.
Article Synopsis
- Transverse testicular ectopia is an unusual condition where both testes are found on the same side of the scrotum, which was diagnosed in a 35-year-old man's right inguinal mass.
- Imaging revealed a normal testis on the right and a 58 mm mass in the right inguinal region, leading to the discovery of the left testicular tumor, requiring a left orchiectomy.
- The patient was later diagnosed with seminoma and experienced lymph node metastasis, but responded well to chemotherapy, highlighting the importance of recognizing this condition for effective treatment.
For designing trabecular (Tb) bone substitutes suffering from osteoporosis, finite element model (FEM) simulations were conducted on honeycombs (HCs) of 8 × 8 × 1 (2D) and 8 × 8 × 8 (3D) assemblies of cube cellular units consisting of 0.9 mm long Nylon® 66 (PA, Young's modulus E: 2.83 GPa) and polyethylene (PE, E: 1.
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- Isodicentric Y chromosomes are common structural variants in humans, particularly with unclear mechanisms behind those involving short arm breakpoints (idic(Yq)).
- A Japanese man with azoospermia (lack of sperm) and short stature was diagnosed with a unique karyotype featuring a mix of chromosomal abnormalities, including an ∼1.8 Mb deletion in his Y chromosome.
- The findings suggest the idic(Yq) condition arose from multiple DNA breaks in a specific region (PAR1) of the Y chromosome, and the patient's symptoms might be linked to genetic factors affecting his growth and fertility.