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1.
Cureus ; 16(4): e58558, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38770464

RESUMEN

Premature chromatid separation (PCS)/mosaic variegated aneuploidy (MVA) syndrome is a rare chromosome instability syndrome. This syndrome is inherited in an autosomal recessive pattern. Although heterozygous carriers of a monoallelic mutation reportedly have a normal phenotype, PCS-positive cells are found at a higher rate in such carriers than in the general population. We herein report a case in which a PCS carrier was incidentally diagnosed during investigation of male infertility. A diagnosis of nonobstructive azoospermia was made, and chromosome analysis revealed the PCS trait in 81 of 200 cells (40.5%), indicating that the patient was a PCS carrier. PCS carriers are not uncommon, and if both members of a couple are carriers, there would be a 25% likelihood of the child presenting with PCS syndrome. Therefore, a clinical psychological approach that includes genetic counseling should be considered before proceeding to microsurgical testicular sperm extraction.

2.
J Phys Chem A ; 127(29): 6063-6070, 2023 Jul 27.
Artículo en Inglés | MEDLINE | ID: mdl-37436511

RESUMEN

Electron detachment thresholds of metal cluster anions, MN-, are a few electron volts. The excess electron is therefore detached by visible or ultraviolet light, which also creates low-lying bound electronic states, MN-*; i.e., MN-* energetically overlaps with the continuum, MN + e-. Here, we perform action spectroscopy of photodestruction, leading either to photodetachment or to photofragmentation, for size-selected silver cluster anions, AgN- (N = 3-19), to unveil such bound electronic states embedded in the continuum. The experiment takes advantage of a linear ion trap that enables us to measure photodestruction spectra with high quality at well-defined temperatures, where bound excited states, AgN-*, are clearly identified above their vertical detachment energies. Structural optimization of AgN- (N = 3-19) is conducted by using density functional theory (DFT), which is followed by calculations of vertical excitation energies by time-dependent DFT to assign the observed bound states. Spectral evolution observed as a function of cluster size is also discussed, where the optimized geometries are found to be closely related to the observed spectral profiles. A plasmonic band consisting of nearly degenerate individual excitations is observed for N = 19.

3.
IJU Case Rep ; 5(6): 521-523, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36341187

RESUMEN

Introduction: Immune checkpoint inhibitors are widely used in various cancers as a standard treatment. However, while various immune-related adverse events related to immune checkpoint inhibitors have been reported, there are few reports of lower urinary tract symptoms. Case presentation: The patient was a 60-year-old man with primary lung cancer who was receiving long-term nivolumab therapy. He was referred to our department due to the sudden onset of glans penile pain and micturition pain. We suspected non-bacterial cystitis as an immune-related adverse event caused by nivolumab and were able to treat it by administering prednisolone. While his symptoms and findings on cystoscopy recurred during prednisolone therapy, we were able to treat him again by administering an additional dose of infliximab. Conclusion: A few reports have described cases of immune checkpoint inhibitor-induced cystitis for which prednisolone was effective. This report is the first to describe cystitis as a steroid-resistant immune-related adverse event.

4.
Hinyokika Kiyo ; 68(7): 245-249, 2022 Jul.
Artículo en Japonés | MEDLINE | ID: mdl-35924708

RESUMEN

Recently, robot-assisted laparoscopic partial nephrectomy (RAPN) has become a commonly performed surgical treatment for small renal tumors, but for difficult cases, such as those presenting with multiple tumors, there are few institutions with experience. We herein report two cases of unilateral multifocal renal cell carcinoma that were successfully treated with RAPN. Case 1: A 65-year-oldwoman was incidentally identified to have two right kidney tumors on imaging. RAPN under cold ischemia was performed. Pathological examinations revealed both tumors to be clear cell carcinoma. Case 2: A 56-year-oldman was incidentally found to have two left kidney tumors on imaging. RAPN under zero-ischemia and warm ischemia was performed. Pathological examinations revealed both tumors to be clear cell carcinoma. In both cases, no recurrence has been observed, and the decrease that occurred in the renal function was mild during the one-and-a half year follow-up.


Asunto(s)
Carcinoma de Células Renales , Neoplasias Renales , Laparoscopía , Procedimientos Quirúrgicos Robotizados , Robótica , Anciano , Carcinoma de Células Renales/diagnóstico por imagen , Carcinoma de Células Renales/patología , Carcinoma de Células Renales/cirugía , Humanos , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/patología , Neoplasias Renales/cirugía , Nefrectomía/métodos , Estudios Retrospectivos , Procedimientos Quirúrgicos Robotizados/métodos , Robótica/métodos , Resultado del Tratamiento
5.
Hinyokika Kiyo ; 68(6): 197-199, 2022 Jun.
Artículo en Japonés | MEDLINE | ID: mdl-35850509

RESUMEN

The patient was an 82-year-old woman with localized muscle-invasive bladder cancer, who underwent robot-assisted radical cystectomy and cutaneous ureterostomy. On the 3rd day after the operation, she suddenly complained of abdominal pain. Abdominal computed tomographic scans revealed parastomal hernia. The patient underwent manual reduction of hernia, but had repeated recurrences of parastomal hernia within a few days. On the 14th day we performed a laparoscopic hernia repair. Observation of the stoma site revealed a laceration of the peritoneum and fascia, and the small intestine was prolapsed. We pulled the small intestine out and ligated the laceration with Mediflex® Suture Grasper Closure Device. After re-operation, there was no recurrence of bladder cancer and parastomal hernia, and the stoma appliances could be put on without any trouble.


Asunto(s)
Hernia Ventral , Laceraciones , Robótica , Neoplasias de la Vejiga Urinaria , Anciano de 80 o más Años , Cistectomía/efectos adversos , Cistectomía/métodos , Femenino , Hernia Ventral/etiología , Hernia Ventral/cirugía , Herniorrafia/efectos adversos , Humanos , Laceraciones/complicaciones , Laceraciones/cirugía , Mallas Quirúrgicas/efectos adversos , Ureterostomía , Neoplasias de la Vejiga Urinaria/complicaciones , Neoplasias de la Vejiga Urinaria/cirugía
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