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1.
Cureus ; 16(2): e54329, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38496077

ABSTRACT

Fabry disease is a metabolic disorder caused by a deficiency in lysosomal enzymes and is inherited as an X-chromosomal disorder. Patients with Fabry disease have a low incidence of cancer, and reports of malignant tumors, especially in the thoracic region, are rare. In this case report, we describe our experience with radiation therapy following breast-conserving surgery in a patient with left breast cancer and Fabry disease, and we review the existing literature. The patient, a woman in her 40s, required postoperative irradiation for left breast cancer (pT1N0M0). There were several patients with Fabry disease in her family, and the diagnosis of Fabry disease was made five years ago. Cardiac function evaluation revealed no significant abnormalities, but a myocardial biopsy had suggested the presence of Fabry disease. Due to the relatively preserved distance between the heart and the chest wall, the patient received heart-shielded three-dimensional conformal radiation therapy at a dose of 53.2 Gy in 20 fractions, without the use of deep-inspiration breath-hold or intensity-modulated radiotherapy. After treatment was completed, only mild radiation dermatitis was observed. Six months have passed since treatment, and there have been no serious adverse events.

2.
Intestinal Research ; : 202-209, 2019.
Article in English | WPRIM (Western Pacific) | ID: wpr-764139

ABSTRACT

BACKGROUND/AIMS: Fecal calprotectin (Fcal) as well as the fecal immunochemical test (FIT) are useful biomarkers for detecting activity and mucosal healing in inflammatory bowel diseases. Here, we report the performance of simultaneous measurements of Fcal and FIT for ulcerative colitis (UC) patients using the newly-developed latex agglutination turbidimetric immunoassay (LATIA) system. METHODS: Fcal and hemoglobin were measured by the LATIA system in 152 UC patients who underwent colonoscopy. Fcal was also quantified with a conventional enzyme-linked immunosorbent assay (ELISA). Fecal markers were evaluated in conjunction with the mucosal status of UC, which was assessed via the Mayo endoscopic subscore (MES) classification. RESULTS: The LATIA system could quantify calprotectin and hemoglobin simultaneously with the same fecal samples within 10 minutes. The values of the Fcal-LATIA closely correlated with those of the Fcal-ELISA (Spearman rank correlation coefficient, r=0.84; P<0.0001). The values of Fcal for each assay and the FIT all significantly correlated with the MESs (Spearman rank correlation coefficient, Fcal-LATIA: r=0.58, Fcal-ELISA: r=0.55, and FIT: r=0.72). The mucosal healing predictability (determined by an MES of 0 alone) of the Fcal-LATIA, Fcal-ELISA, and FIT-LATIA with the cutoffs determined by receiver operating characteristic curve analysis was 0.79, 0.78, and 0.92 for sensitivity, respectively, and 0.78, 0.69, and 0.73 for specificity, respectively. CONCLUSIONS: The performance of the novel Fcal-LATIA was equivalent to that of the conventional Fcal assay. Simultaneous measurements with FITs would promote the clinical relevance of fecal biomarkers in UC.


Subject(s)
Humans , Agglutination , Biomarkers , Classification , Colitis, Ulcerative , Colonoscopy , Enzyme-Linked Immunosorbent Assay , Feces , Immunoassay , Inflammatory Bowel Diseases , Latex , Leukocyte L1 Antigen Complex , ROC Curve , Sensitivity and Specificity
3.
Chinese Journal of Traumatology ; (6): 303-304, 2017.
Article in English | WPRIM (Western Pacific) | ID: wpr-330395

ABSTRACT

Locking of the metacarpophalangeal (MCP) joint is commonly caused by hyperextension of the thumb or moderate flexion of the index or middle finger. We report a rare case of vertical locking of the MCP joint of the little finger in a 16-year old female after blunt trauma to the little finger. The MCP joint was locked when positioned at approximately 90-degree-flexion and could not extend actively or passively. A manual reduction was easily achieved and no immobilization was applied. Vertical locking of the MCP joint can be easily reduced, and immobilization is unnecessary after reduction. Correct diagnosis prior to reduction and differentiation from other types of locking are essential to prevent overtreatment.

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