A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.

Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM_000143.3:c.1013_1014del (p.Ile338Serfs*3), that was also identified in healthy siblings. Identification of genetic causes in the proband helped us to provide relatives with precise genetic counseling and appropriate surveillance programs.

Factors affecting lower limb muscle strength and cardiopulmonary fitness after allogeneic hematopoietic stem cell transplantation.

PURPOSE: The aim of this study is to clarify the factors affecting physical function after allogeneic hematopoietic stem cell transplantation (HSCT). METHODS: We retrospectively analyzed 88 patients (median age, 44.5 years) who received allogeneic HSCT. Leg extension torque and peak oxygen consumption (VO2) were evaluated before and after HSCT. Patient factors (age, sex, underlying diseases, hemoglobin, serum albumin, and Karnofsky performance status score before transplant) and transplant factors (conditioning regimen, days to neutrophil engraftment, grades of acute graft-versus-host disease [GVHD], infections, and the interval between pre- and post-evaluation) were collected via chart review, and were used for correlational and comparison analyses in order to identify the variables associated with reduced post-HSCT leg extension torque and peak VO2. Stepwise multiple regression analyses for post-HSCT leg extension torque and post-HSCT peak VO2 were performed using age, sex, and the related variables with a p value < 0.2 in the correlational and comparison analyses. RESULTS: Leg extension torque and peak VO2 were significantly reduced after HSCT (p < 0.001). Pre-HSCT leg extension torque, grades of acute GVHD, age, and the interval between pre- and post-evaluation were identified as significant factors associated with reduced post-HSCT leg extension torque. However, none of these factors were significantly associated with reduced post-HSCT peak VO2, and only its pre-transplant value was identified as a significant factor. CONCLUSIONS: These findings suggest that improvements in muscle strength and cardiopulmonary fitness before HSCT are crucial for maintaining post-treatment physical function, especially in elderly individuals with acute GVHD requiring a long-term stay in a protective environment.

Immediate effects of active exercise with compression therapy on lower-limb lymphedema.

PURPOSE: Active exercise with compression therapy (AECT) is a standard treatment for gynecological cancer-related lower-limb lymphedema (LLL) in clinical situations. However, there is insufficient evidence regarding the immediate effects of the use of AECT on LLL. The purpose of this study was to evaluate the immediate effects of AECT on LLL. METHODS: Participants in this randomized controlled crossover trial comprised 23 women with LLL who completed high-load AECT, low-load AECT, and compression-only therapy (CT). AECT was performed on a bicycle ergometer with short stretch bandages. Each intervention was performed for 15 min, with successive interventions separated by a 1-week washout period. Lower-limb volume was assessed using a Perometer™ sensor (Pero-system, Wuppertal, Germany). General symptoms (pain and heaviness) and skin symptoms (pitting and stiffness) were assessed using a visual analog scale and palpation, respectively. Measurements were taken before and after each intervention. Analysis of variance using linear mixed-effect modeling was used for statistical analyses. RESULTS: Volume decrement differed significantly between all three interventions (P < 0.05). Lower-limb volume was significantly reduced after high-load AECT compared to that after CT. General symptoms and skin symptoms were similar across the three interventions, but severity of pre-intervention skin symptoms correlated significantly with volume decrement after high- and low-load AECT. High-load AECT using the bicycle ergometer was more effective than CT for decreasing lower-limb volume. CONCLUSIONS: These results suggest that high-load AECT has marked effects on severe LLL.

Cancer Functional Assessment Set: a new tool for functional evaluation in cancer.

OBJECTIVE: The aim of this study was to develop and evaluate the psychometric properties of a new measurement tool, the Cancer Functional Assessment Set (cFAS). DESIGN: A total of 119 inpatients with cancer participated in this prospective cohort study. This study took place in three phases: (1) item generation, literature search, and a round-table discussion by 32 rehabilitation specialists; (2) item reduction and selection of appropriate items from the first item pool; and (3) evaluation of psychometric properties. Concurrent validity (Spearman correlation coefficients with existing scales), internal reliability (Cronbach coefficient alpha), interrater reliability (weighted kappa statistics and intraclass correlation coefficient), cross-validation, and responsiveness (standardized response mean values) were examined. RESULTS: The cFAS consisted of 24 items. Significant correlations were found between the cFAS and existing scales. Cronbach α for the total score was 0.92. Weighted κ values for each item ranged from 0.74 to 1.00. The intraclass correlation for the total score was 0.97. Concurrent validity and internal consistency were similar at two different hospitals. The cFAS was more responsive to changes than the other tools. CONCLUSIONS: The cFAS has acceptable psychometric properties, supporting its broad generalizability. It can be a useful tool in clinical trials and can contribute to the development of cancer rehabilitation.