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Lysosomal storage disorders and peroxisomal disorders are rare diseases caused by the accumulation of substrates of the metabolic pathway within lysosomes and peroxisomes, respectively. Owing to the rarity of these diseases, the prevalence of lysosomal storage disorders and peroxisomal disorders in Japan is unknown. Therefore, we conducted a nationwide survey to estimate the number of patients with lysosomal storage disorders and peroxisomal disorders in Japan.

A nationwide survey was conducted following the "Manual of nationwide epidemiological survey for understanding patient number and clinical epidemiology of rare diseases (3rd version)". A questionnaire asking for detailed information, such as disease phenotypes and medical history, was created and sent to 504 institutions with doctors who have experience in treating patients with lysosomal storage disorders and peroxisomal disorders. Result A total of 303 completed questionnaires were collected from 504 institutions (response rate 60.1%). The numbere of mucopolysaccharidosis II and Gaucher disease type II was a feature characteristic of Japan.

We estimated the number of patients with lysosomal storage disorders and peroxisomal disorders in Japan. The details of the age at diagnosis and treatment methods for each disease were clarified, and will be useful for the early diagnosis of these patients and to provide appropriate treatments. Furthermore, our results suggest that supportive care and the development of an environment that can provide optimal medical care is important in the future.

We estimated the number of patients with lysosomal storage disorders and peroxisomal disorders in Japan. The details of the age at diagnosis and treatment methods for each disease were clarified, and will be useful for the early diagnosis of these patients and to provide appropriate treatments. Furthermore, our results suggest that supportive care and the development of an environment that can provide optimal medical care is important in the future.The aim of this study was to answer the question which analgesic protocol is most efficient and most effective in overcoming pain and promoting functional recovery after iliac bone grafting in cleft alveolus patients? A systematic review of the literature was performed. The population consisted of cleft lip and alveolus patients with or without cleft palate undergoing iliac crest bone grafting; the outcomes analysed were represented by the duration of hospital stay, subjective pain rating, and degree of impaired mobility. A total of 15 articles were selected for review. The following protocols were subject to comparison in this review simple classic intravenous/per-oral analgesia, local anaesthetic infiltration in the donor site, anaesthetic-soaked sponge, neural blocks and continuous infusion at the donor site. The results of the included studies were individually reported identifying trends in the efficiency of the different pain-management techniques. Although hospital stay varied from same-day discharge to almost a week, other factors besides pain influenced this outcome. School was resumed after an average of 12.6 days and sport activities after maximum one month regardless of the used protocol. Even though the age of patients had a statistically significant influence on hospital stay durations, it did not determine the latter. The pain management protocols after iliac bone grafting of alveolar clefts selected for analysis have their advantages and drawbacks. All protocols seem effective meaning they reach adequacy in managing pain at the donor site. The efficiency of the protocols could not be assessed due to the lack of data and inconsistency in pain assessment scales. Further investigation through randomized controlled studies is required.While Merkel cell carcinoma (MCC) of the head and neck is highly malignant, it remains poorly characterized due to its rarity. The purpose of this study was to examine prognostic factors for overall survival (OS) and disease-specific survival (DSS) in patients with MCC of the head and neck region. The Surveillance, Epidemiology and End Results registry was reviewed for patients diagnosed between 1984 and 2016 with histologically confirmed, primary MCC of the head and neck region. A total of 2818 patients met the inclusion criteria, with a median age at diagnosis of 77 years. At five and 10 years, respectively, the OS was 42.4% and 25.1% and the DSS was 67.9% and 64.1%. Multivariate Cox analysis indicated that predictors of decreased DSS included age at diagnosis ≥75 years, white race, increasing tumor spread, lymph node involvement and either the lip or the scalp/neck as a primary site. When adjusting for the aforementioned factors, tumor depth was not found to be a prognostic factor for DSS. We anticipate these results will help clinicians to counsel patients regarding expectations and potential prognosis.This study was performed to investigate the effect of platelet-rich fibrin membrane (PRFM), alone and with topical tacrolimus application, on regeneration of the crushed facial nerve (FN). Thirty healthy 7-week-old albino rats were used. The left FN was damaged by crushing in all rats. Three random groups of rats were formed group 1, untreated; group 2, treated with PRFM; group 3, treated with PRFM plus topical tacrolimus. Functional recovery and histological and immunohistochemical evaluations were performed 4 and 8 weeks later. Anti-S100 was used to detect myelin sheath. At 4 weeks, blinking reflex recovery was more rapid in group 3 than in groups 2 and 1 (4.30 ± 0.48, 3.40 ± 0.52, and 2.20 ± 0.42, respectively); the difference was statistically significant (P = 0.001). Calpeptin molecular weight Histologically, group 3 showed more apparent normal FN structures than the other groups. Immunohistochemical caspase-3 evaluation of the axon area revealed a significant difference between group 2 (PRFM alone; 8.67 ± 0.029) and group 3 (PRFM plus topical tacrolimus; 4.42 ± 0.028) (P = 0.001). Group 3 showed the greatest positive staining in the myelin sheath. Based on the results of this animal study, clinical studies should be performed to determine whether the combination of PRF and tacrolimus also improves the outcome of nerve regeneration in humans.