A case of sudden cardiac death due to mitochondrial disease

A 25-year-old, emaciated man without medical treatment was found to have died suddenly at home by his mother. At autopsy, there were no injuries to his body, but significant circulatory insufficiency was observed. Electron microscopy revealed abnormal mitochondria in cells of the cardiac conduction system. The conduction system was filled with mitochondrial size abnormalities and mitochondrial cristae abnormalities. No notable abnormal findings were observed in other organs. Genetic examination of the blood revealed the mitochondrial pathogenetic variant m.3243A>G. Epileptic seizures, diabetic ketoacidosis, and hyperosmolar hyperglycemic state were unlikely to be the cause of sudden death. The cause of death was diagnosed as arrhythmia possibly induced by the failure of the cardiac conduction system due to mitochondrial disease. This is a rare case of sudden death caused by an accumulation of abnormal mitochondria in the cardiac conduction system.     

Ankle fractures: High implant cost is not associated with better patient reported outcomes

IntroductionAnkle fractures comprise 9% of all fractures and are among the most common fractures requiring operative management. Open reduction and internal fixation (ORIF) with plates and screws is the gold standard for the treatment of unstable, displaced ankle fractures. While performing ORIF, orthopaedic surgeons may choose from several fixation methods including locking versus nonlocking plating and whether to use screws or suture buttons for syndesmotic injuries.Nearly all orthopaedic surgeons treat ankle fractures but most are unfamiliar with implant costs. No study to date has correlated the cost of ankle fracture fixation with health status as perceived by patients through patient reported outcomes (PROs). The purpose of this study was to determine whether there is a relationship between increasing implant cost and PROs after a rotational ankle fracture.MethodsAll ankle fractures treated with open reduction internal fixation (ORIF) at a level I academic trauma center from January 2018 to December 2022 were identified. Inclusion criteria included all rotational ankle fractures with a minimum 6-month follow-up and completed 6-month PRO. Patients were excluded for age <18, polytrauma and open fracture. Variables assessed included demographics, fracture classifications, Foot and Ankle Ability Measure-Activities of Daily Living (FAAM-ADL) score, implant type, and implant cost.ResultsThere was a statistically significant difference in cost between fracture types (p < 0.0001) with trimalleolar fractures being the most expensive. The mean FAAM-ADL score was lowest for trimalleolar fractures at 78.9, 95% CI [75.5, 82.3]. A diagnosis of osteoporosis/osteopenia was associated with a decrease in cost of $233.3, 95% CI [−411.8, −54.8]. There was no relationship between syndesmotic fixation and implant cost, $102.6, 95% CI [−74.9, 280.0]. There was no correlation between implant cost and FAAM-ADL score at 6 months (p = 0.48).ConclusionsThe utilization of higher cost ankle fixation does not correlate with better FAAM-ADL scores. Orthopaedic surgeons may choose less expensive implants to improve the value of ankle fixation without impacting patient reported outcomes.     

中医舌诊术语英译国际标准探究＊

本文通过对《中医基本名词术语中英对照国际标准》和《WHO西太平洋地区传统医学名词术语国际标准》舌诊术语进行比较，分析两部标准中舌诊术语英译的优缺点，提出更适宜优先选择作为中医舌诊术语英译标准的方案，以期为中医名词术语标准化工作提供参考。     

Useful histopathologic features for diagnosing focal liver lesions with spindle cell morphology: A clinicopathologic study

BackgroundFocal liver lesions with spindle cell morphology are rare in the daily practice of pathology. The differential diagnosis is broad, including both tumors and tumor-like lesions. Initial radiologic assessment is sometimes inaccurate. Histopathology is needed to arrive at the correct diagnosis. This study analyzed discrepancies between histopathology and radiologic findings of focal liver lesions with spindle cell morphology.MethodsA six-year retrospective analysis was conducted at a tertiary hospital in Thailand. All focal liver lesions with spindle cell morphology were retrieved. Clinicopathologic features of these cases were analyzed. The pathological diagnosis was rendered primarily based on routine histopathology, using other ancillary studies as an adjunct.Results287 biopsies and 151 resection specimens with focal liver lesions were identified. In 12 (2.7%) cases, tumors or tumor-like lesions with spindle cell morphology were retrieved. A total of five cases had discrepancies between histopathology and radiologic findings. These lesions encompassed primary liver tumors (EBV-associated smooth muscle tumor and leiomyosarcoma); metastatic tumors (gastrointestinal stromal tumor, small cell neuroendocrine carcinoma); and a tumor-like lesion (endometriosis). Several morphologic findings (i.e., cytologic grades, dense and loose areas, intratumoral lymphocytes, distinct perinuclear vacuoles, and hemosiderin) are important clues to diagnose these spindle cell lesions.ConclusionsPathologists play a critical role in diagnosing focal liver lesions with spindle cell morphology, particularly those with limited clinical data at the initial presentation. A thorough evaluation of histomorphology on routine hematoxylin and eosin-stained slides is essential for correct diagnosis.     

Challenges and limitation of MTAP immunohistochemistry in diagnosing desmoplastic mesothelioma/sarcomatoid pleural mesothelioma with desmoplastic features

AimGenomic-based ancillary assays including immunohistochemistry (IHC) for BRCA-1 associated protein-1 (BAP1) and methylthioadenosine phosphorylase (MTAP), and fluorescence in situ hybridization (FISH) for CDKN2A are effective for differentiating pleural mesothelioma (PM) from reactive mesothelial proliferations. We previously reported a combination of MTAP and BAP1 IHC effectively distinguishes sarcomatoid PM from fibrous pleuritis (FP). Nevertheless, cases of sarcomatoid PM with desmoplastic features (desmoPM) are encountered where the IHC assessment is unclear.Methods and resultsWe evaluated assessment of MTAP IHC, BAP1 IHC, and CDKN2A FISH in 20 desmoPM compared to 24 FP. MTAP and BAP1 IHC could not be assessed in 11 (55 %) and 10 (50 %) cases, respectively, due to loss or faint immunoreactivity of internal positive control cells, while CDKN2A FISH could be evaluated in all cases. The sensitivities for MTAP loss, BAP1 loss, and CDKN2A homozygous deletion in desmoPM were 40 %, 10 %, and 100 %. A combination of MTAP loss and BAP1 loss yielded 45 % of sensitivity.ConclusionsMTAP IHC is a useful surrogate diagnostic marker in differentiating ordinary sarcomatoid PM from FP, but its effectiveness is limited in desmoPM. CDKN2A FISH is the most effective diagnostic assays with 100 % sensitivity and specificity in discriminating desmoPM from FP in the facilities where the FISH assay is available.