Nihonkai General Hospital

Urea cycle disorders (UCDs) are rare inherited metabolic diseases characterized by defective detoxification of nitrogen, leading to hyperammonemia and neurological complications. While pediatric UCDs have been extensively studied in Japan, data on adult patients remain limited. This study aims to evaluate the current status of Japanese adult UCD patients, hereby comparing long-term outcomes after neonatal/infantile or late onset in a new nationwide study investigating clinical manifestations and management. In total, we collected data of 116 adult UCD patients diagnosed and/or treated at various institutions, combining this new cohort (34 UCD patients between January 2010 and December 2022) with data from a previous nationwide study (82 UCD patients between January 2000 and March 2018). Among 116 adult UCD patients, ornithine transcarbamylase deficiency was the most common subtype (N = 69). Hyperammonemia occurred in 91.4% of patients, and intellectual disability was present in 50.0%. Patients generally showed reduced final height and BMI compared to Japanese controls, particularly among females and those with infantile-onset UCDs. Peak ammonia levels ≥ 360 μmol/L were significantly associated with intellectual disability. Liver transplantation (LT) was performed in 20 patients, and although it helped to avoid hyperammonemia, it did not statistically improve neurocognitive outcomes in patients with peak ammonia < 360 μmol/L. This study provides the first comprehensive overview of adult UCD patients in Japan, highlighting frequent growth impairment and variable cognitive outcomes. LT improves metabolic control but cannot prevent intellectual disability in all patients. These findings underscore the need for early diagnosis, individualized treatment strategies, and long-term follow-up into adulthood.

背景．進行期肺癌を正確に診断するためには全身状態および基礎疾患を踏まえつつ，必要十分量の検体を安全に採取することが重要である．症例1．73歳，男性．慢性心房粗細動，脳梗塞・両側頚動脈狭窄で抗凝固薬および抗血小板薬の内服あり．2ヵ月前からの気道症状で当科を紹介受診した．多発肺腫瘤，右鎖骨上窩リンパ節腫大を認めた．右鎖骨上窩リンパ節でエコーガイド下穿刺吸引生検を実施した．肺扁平上皮癌と診断し，次世代シーケンサー（NGS）も併用し，ドライバー遺伝子変異を確認した．症例2．68歳，男性．脳梗塞後で抗血小板薬2剤の内服あり．1ヵ月前からの気道症状で当科を紹介受診した．縦隔リンパ節の腫大による上大静脈症候群，心嚢液貯留，左内頚静脈血栓，右鎖骨上窩リンパ節腫大を認めた．右鎖骨上窩リンパ節でエコーガイド下穿刺吸引生検および半自動生検針による針生検を実施した．肺腺癌の診断に至り，NGSでドライバー遺伝子変異陰性を確認した．結論．エコーガイド下頚部リンパ節生検は侵襲的手技を躊躇するような症例においても安全に実施でき，precision medicineに向けて検体を採取することもできる．

Undifferentiated high-grade pleomorphic sarcoma (UHPS) is a highly aggressive sarcoma that presents a considerable degree of cellular pleomorphism and undifferentiation. It was formerly called malignant fibrous histiocytoma of bone. Recently it has been diagnosed by immunohistochemical (IHC) staining. To the best of our knowledge, only 19 cases have been reported in the literature. Of these, IHC staining was examined in only 13 cases. This paper reports a case of UHPS of the mandible with some literature review. The patient was a 62-year-old woman with a 52 × 27 mm mass on the right mandibular body with bone destruction. Biopsy specimens revealed osteosarcoma. We performed a right hemimandibulectomy and ipsilateral neck dissection. It took five months to diagnose UHPS with IHC staining. After the surgery, lung metastasis was observed and lung surgery was performed. One year after the lung surgery, local recurrence was observed and heavy ion radiotherapy was carried out. The treatment result was CR. However, the lung metastasis advanced rapidly, and lung surgery and chemotherapy were performed. Despite this, her general condition gradually deteriorated and she died 1.5 years after diagnosis.

BackgroundThe frequency and clinical profile of respiratory syncytial virus (RSV)–acute respiratory disease (ARD) in older adults in Japan has not been well‐characterized.MethodsThis was a multicenter prospective observational cohort study to evaluate the occurrence rate of ARD in 1000 older adult participants (≥65 years) for 52 weeks during the 2019 to 2020 season. A multiplex polymerase chain reaction panel was used for pathogen detection in nasopharyngeal swab from participants diagnosed with ARD. Symptoms and impact of ARD was assessed using the Respiratory Infection Intensity and Impact Questionnaire (RiiQ™). The study was registered at UMIN (https://www.umin.ac.jp/ctr/): UMIN000037891.ResultsRSV–ARD was detected in 24/1000 (2.4%) participants and RSV‐lower respiratory tract disease in 8/1000 (0.8%) participants. The median duration of RSV–ARD was 18 days. All 24 participants had utilized the medical services of outpatient visits and only 1 (4.2%) participant was hospitalized for RSV–ARD. The most common viruses other than RSV that caused ARD (detected in >10 participants) were human rhinovirus/enterovirus, parainfluenza 3, coronavirus OC43, human metapneumovirus, and influenza A/H1. The most frequent symptoms of RSV–ARD were cough, sore throat, nasal congestion, and expectoration.ConclusionsRSV was reported as a major pathogen for respiratory infections in older adults in Japan.