Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter

Thyroid hormones are known to be essential for growth, development, and metabolism. Recently, the monocarboxylate transporter 8 (MCT8) was identified as a thyroid hormone transporter, and MCT8 mutations have been associated with Allan-Herndon-Dudley syndrome, an X linked condition characterized by severe mental retardation, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia. Here we describe in detail the clinical and biochemical features and the response to thyroid hormone (L-thyroxine (LT4)) administration in a boy with an MCT8 mutation (c.1649delA) that truncates the protein in the twelfth transmembrane domain. It is of note that brain magnetic resonance imaging (MRI) revealed delayed myelination from infancy. Endocrine functions other than thyroid hormone regulation and metabolism were intact, resulting in normal hypothalamic/pituitary function tests. While LT4 administration suppressed thyrotropin (TSH) secretion, no significant changes in thyroid hormone values or clinical symptoms were observed. Conclusion: the characteristic thyroid hormone function tests and brain MRI findings may allow screening of high-risk populations for a better understanding of MCT8 pathophysiology.     

Association of sleep habits with blood pressure in elderly people

We investigated the impact of sleep habits on blood pressure (BP) in cross-sectional analyses of 1533 participants aged ≥ 70 without cardiovascular disease or treatment for hypertension, diabetes mellitus, and dyslipidemia. We assessed sleep habits [time in bed (TIB), bed time, and taking sleeping pills], using the Pittsburgh Sleep Quality Index. For groups where TIB was >8 h and <6 h, systolic BP was significantly higher than the group where TIB ranged 6–8 h (134.2 ± 17.5, 134.8 ± 19.6 vs. 130.1 ± 17.7, p < 0.05, p < 0.001, respectively). Systolic BP was significantly higher in the group whose bed time was before 21:00 than that whose bed time was 21:00 or later (136.6 ± 18.6 vs. 132.0 ± 18.4, p < 0.01). Both systolic and diastolic BPs were lower in the group taking sleeping pills (133.2 ± 18.6 vs. 128.1 ± 17.3, p < 0.0001; 75.3 ± 11.5 vs. 73.3 ± 10.7, p < 0.05). Multiple regression analyses revealed that after adjusting for age, gender, body mass index, smoking, and alcohol intake, taking sleeping pills and short or long TIB were significantly associated with systolic BP, whereas bed time was not. These results suggested that inappropriate TIB and sleeping pills were associated with BP in elderly people.     

Clinical and computed tomography findings of appendiceal diverticulitis vs acute appendicitis

AIM: To study the clinical features and computed tomography(CT) findings of appendiceal diverticulitis vs acute appendicitis.METHODS: We retrospectively reviewed the records of 451 patients who had undergone appendectomy inour in stitution from January 2007 to September 2012. Patient demographics, clinical features, pathological findings, and surgical outcomes were analyzed. We also compared preoperative CT images of 25 patients with appendiceal diverticulitis with those of 25 patients with acute appendicitis.RESULTS: Among 451 patients, 44(9.7%) were diagnosed to have appendiceal diverticulitis and 398(86.9%) to have acute appendicitis. Patients with appendiceal diverticulitis were older(59 vs 37 years, P < 0.001) and had a longer duration of the illness(4.0 d vs 1.0 d, P < 0.001). Perforation rates in patients with appendiceal diverticulitis were higher(68% vs 27%, P < 0.001). The appendix could be visualized in only 13 patients(52%) among the appendiceal diverticulitis cases, but in all acute appendicitis cases. CT findings suggestive of appendiceal diverticulitis included the absence of fluid collection in the appendix(84% vs 12%, P < 0.001), absence of appendicolith(92% vs 52%, P = 0.005), and formation of abscess(68% vs 16%, P < 0.001). Appendiceal diverticula were identified in 6 patients(24%).CONCLUSION: Among patients who had undergone appendectomy, 9.7% had appendiceal diverticulitis. Patients with appendiceal diverticulitis had different clinical features and CT findings from patients with acute appendicitis.     

Early start of chemotherapy after resection of primary colon cancer with synchronous multiple liver metastases: a case report

The start of chemotherapy treatment usually requires a delay of about 4 weeks after surgical resection in patients with primary colorectal cancer and synchronous distant metastasis. However, there is no evidence to indicate the required length of this delay interval. In addition, there is a chance that a patient may die because postoperative chemotherapy was not started soon enough and a metastatic tumor was able to develop rapidly. Here, we present a case in which combination chemotherapy with capecitabine and oxaliplatin (XELOX) was started within 1 week after a right hemicolectomy for synchronous multiple liver metastases. To our knowledge, this is the first report of the start of chemotherapy, involving treatments such as folinic acid, fluorouracil, and oxaliplatin (FOLFOX); folinic acid, fluorouracil, and irinotecan (FOLFIRI); and XELOX, within 1 week after a colorectal cancer operation with anastomosis. The findings suggest possible changes in the start time of chemotherapy after surgery in the future.     

Clinical value of fibrillatory wave amplitude on surface ECG in patients with persistent atrial fibrillation

Purpose

We postulated that amplitude of fibrillatory (F)-wave in patients with persistent AF would correlate with clinical characteristics and outcome in patients undergoing catheter ablation for AF.

Method

Maximal and mean amplitude of F-waves were measured in V1 and lead II in 90 patients prior to ablation for persistent AF. F-wave amplitudes were correlated to clinical, echocardiographic variables, and outcome.

Results

F-wave?≥?0.1 mV in lead II and V1was correlated with younger age and shorter AF history, and in lead II only was correlated with a smaller left atrium. Higher F-wave amplitude at baseline predicted AF termination during ablation. Maximal amplitude of?≥?0.07 mV predicted AF termination by ablation with 82%/79% sensitivity and 68%/73% specificity in V1/lead II respectively. An association between F-wave amplitude and AF recurrence was observed. Forty-three percent of patients with mean f wave amplitude <0.05 in lead V1 had AF recurrence compared to 12% of those with F-wave?≥?0.05 (p?=?0.004).

Conclusion

Longer AF duration, older age and larger LA size are associated with fine AF amplitude. High F-wave amplitude predicts procedural termination of arrhyhmia in patients with persistent AF and freedom from AF upon follow-up.     

Is postoperative early enteral nutrition with regular or disease-specific enteral formula really beneficial in patients undergoing esophagectomy?

Although recent studies have shown that early enteral nutrition (EEN) has certain advantages over parenteral nutrition for preventing postoperative complications, few previous studies have examined the effects of enteral nutrition in patients undergoing esophagectomy. Here we review the effects of EEN with regular polymeric or other disease-specific enteral formulas in patients undergoing esophagectomy. Previously reported data suggest that nutritional management with early enteral feeding may be beneficial and that an appropriate selection of specific enteral formula enriched with disease-specific nutrients is important to prevent postoperative complications in patients undergoing radical esophagectomy. The use of immune-enhancing enteral formula (IEF) showed a certain benefit to enhance postoperative immunological function after esophagectomy. The use of IEF in the critically ill condition is still controversial, however, and thus the indication for using IEF in patients with septic complications after surgery should be considered carefully. IEF without the enrichment of arginine may be another option for patients with septic complications. EEN with a specific enteral formula may be important for patients with esophageal cancer after neoadjuvant chemotherapy or radiation therapy and salvage surgery to prevent postoperative complications and to improve nutritional status. Appropriate perioperative enteral formula enriched with disease-specific nutrients may be an important target of future clinical research for patients undergoing esophagectomy.     

Pediatric post-transplant diffuse large B cell lymphoma after cardiac transplantation

Post-transplant lymphoproliferative disorders (PTLDs) occur in 3.5–9% of patients after pediatric cardiac transplantation. Caution is needed when treating patients with PTLD because of the risk of allograft rejection frequently caused by withdrawal of immunosuppression. In this report, we describe a 47-month-old boy who developed PTLD as an ileocecal mass 29 months after cardiac transplantation. Immunosuppressive therapy with cyclosporine A (CyA) had been reduced due to an elevation of Epstein-Barr virus (EBV) titer for 8 months before development of PTLD. Histology of the tumor was diffuse large B cell lymphoma. EBV was detected by in situ hybridization assay. Cytogenetic analysis revealed t(8;14)(q24;q32) and Southern blot analysis detected a c-Myc rearrangement. He was treated with rituximab and combination chemotherapy with excellent response. CyA dose was maintained at reduced levels during chemotherapy and later minimized with introduction of everolimus. The child is free of both PTLD and allograft rejection 41 months after the diagnosis of PTLD.     

The Association Between Cancer Risk and Age at Onset of Smoking in Japanese

Background

Young age at onset of smoking is a known risk factor for cancer; however, few studies have investigated the risk of cancer associated with onset of smoking during adolescence in Japan.

Methods

We analyzed a portion of the data from a population-based cohort of 40 897 subjects aged 40 to 69 years with a history of smoking and no history of cancer at baseline.

Results

During a 14-year follow-up period, 4386 total cancers and 681 lung cancers were newly diagnosed. As compared with smokers who started smoking after the age of 20 years, those who started before the age of 17 years smoked a significantly larger number of cigarettes per day for a significantly longer duration; they also had a significantly higher risk of lung cancer. The hazard ratios in men and women were 1.48 (95% confidence interval, 1.11–1.96) and 8.07 (2.34–27.85), respectively. After further adjustment for smoking amount, the associations remained significant. There was a statistically significant inverse correlation between lung cancer risk and age at onset of smoking in male current smokers whose baseline age was 50 to 59 years; no such association was detected among other age strata.

Conclusions

There was no clear evidence of increased risk of cancer due to adolescent smoking. However, adolescent smoking appeared to indirectly increase lung cancer risk because it was associated with a longer duration and larger amount of smoking.Key words: cancer, lung cancer, cigarette smoking, age, incidence     

Usefulness of (18)F-FDG positron emission tomography/computed tomography for the diagnosis of pyothorax-associated lymphoma: A report of three cases

Pyothorax-associated lymphoma (PAL) is a unique and rare non-Hodgkin's lymphoma developing in the pleural cavity following a long-standing history of chronic pyothorax (CP). The development of F-18 2'-deoxy-2fluoro-D-glucose (FDG) positron emission tomography combined with computed tomography (PET/CT) has contributed to the evaluation of lymphoma staging. However, only a few studies describing FDG-PET/CT findings in PAL have been published. This study reported three cases of PAL; all 3 patients had previously undergone artificial collapse therapy for pulmonary tuberculosis. Both the first case (an 84-year-old male) and second case (an 83-year-old male) complained of abdominal pain. An ultrasound scan revealed a mass shadow in the left chest wall without abnormal findings in the abdomen, and the CT and magnetic resonance imaging scans suggested malignant lymphoma of the left chest. FDG-PET/CT imaging showed extremely intense FDG uptake only in the left pleura and chest wall. Diagnosis was CP in the two patients, showing a high maximum standardized uptake value (SUVmax: early, 14.8 and delayed, 19.4 in the first case; early, 20.8 and delayed, 27.3 in the second case, respectively). Histopathological analysis of the specimens obtained by biopsy of the PET/CT-positive pleural mass showed non-Hodgkin's, diffuse large B cell lymphoma in the two cases. The third case was a 79-year-old male with relapse after right pleuropneumonectomy for PAL (diffuse large B cell lymphoma) 4 years earlier. PET/CT showed intense FDG uptake (SUVmax: early, 19.9 and delayed, 35.7) in the right pleura and chest wall. Diagnosis was CP, suggesting the recurrence of PAL. Furthermore, abnormal intense FDG uptake was noted in the hilar, mediastinal and supraclavicular lymph nodes, as well as in the spleen. In conclusion, FDG-PET/CT imaging is useful in the evaluation of the area of invasion in PAL.