Vaginal intraepithelial neoplasia III, is a relatively rare disease. Consequently standard treatments for this disease were not established until recently. Although several convenient methods, such as laser ablation, 5-fluorouracil topical injection, and radiation therapy, have been applied for treating these lesions, surgical treatments, including vaginectomy, have not yet been attempted, as they would likely be accompanied by technical difficulties and various complications. Herein, we report a case of refractory vaginal intraepithelial neoplasia III in the vaginal vault that was successfully treated with a total vaginectomy.
Fluorouracil ; Laser Therapy ; Rare Diseases

Rare diseases refer to a group of single diseases with low incidence rates, complex pathogeneses, severe disease conditions, and rapid progression. Most rare diseases have a genetic background and may occur in childhood. Paying attention to the rare genetic diseases in children and performing early diagnosis and treatment can effectively delay the course of disease and improve the quality of life of children. Many rare diseases can be diagnosed with the help of various experimental techniques, but the diagnosis of rare diseases is still not widely understood. This article summarizes the laboratory diagnostic techniques currently used for rare genetic diseases in children, so as to provide clues for the diagnosis and treatment of such diseases and help to enhance the theoretical understanding and precise medical treatment of rare genetic diseases in children.
Child ; Humans ; Rare Diseases/therapy* ; Quality of Life

Rare diseases in children are characterized by low prevalence, complex pathogenesis, variety, and difficulty in the diagnosis and treatment. With the development of medical services, progress has been made in the diagnosis and treatment of rare diseases. However, due to asymmetric allocation of medical resources at different levels, there are still many shortcomings in the establishment and promotion of the homogenized management system of rare disease diagnosis and treatment. In order to further standardize the homogenized management of rare diseases in children, achieve early and accurate diagnosis and treatment, and improve the quality of life of the children, the Rare Disease Diagnosis and Treatment Center of Tianjin Children's Hospital (Tianjin University Children's Hospital) invited relevant experts in the field to develop recommendations for the management model of homogenized diagnosis and treatment of rare diseases in children from the aspects of information construction, hierarchical diagnosis and treatment, personnel training, scientific popularization, and multi-participation. The recommendations provide reference for the regional homogenization of clinical diagnosis and treatment management system for children with rare diseases.
Humans ; Child ; Rare Diseases/therapy* ; Quality of Life

Education, Medical ; Humans ; Neoplasms ; therapy ; Rare Diseases ; therapy

Malignant mixed mullerian tumor of the ovary are very aggressive tumors that were usually diagnosed at an older age. They are usually at an advanced stage at the time of diagnosis, and survival after diagnosis varies by stage of disease and histological type. Despite aggressive treatment that includes surgery and chemotherapy, women with these tumors have a significantly increased risk of death giving them a very poor prognosis. The poor prognosis associated with this rare disease represents a need to new therapeutic regimens to improve patients' survival. We experienced two cases of primary malignant mixed mullerian tumor of the ovary.
Diagnosis ; Drug Therapy ; Female ; Humans ; Ovary* ; Prognosis ; Rare Diseases

Malignant mixed mullerian tumor of the ovary are very aggressive tumors that were usually diagnosed at an older age. They are usually at an advanced stage at the time of diagnosis, and survival after diagnosis varies by stage of disease and histological type. Despite aggressive treatment that includes surgery and chemotherapy, women with these tumors have a significantly increased risk of death giving them a very poor prognosis. The poor prognosis associated with this rare disease represents a need to new therapeutic regimens to improve patients' survival. We experienced two cases of primary malignant mixed mullerian tumor of the ovary.
Diagnosis ; Drug Therapy ; Female ; Humans ; Ovary* ; Prognosis ; Rare Diseases

China ; Forecasting ; Gaucher Disease ; diagnosis ; therapy ; Humans ; Rare Diseases

Interest in rare diseases research and orphan drugs development has been increased distinctly in recent years. The number of affected people with rare diseases is considerable around the world and the formulation of national and international incentive policies to accelerate orphan drugs development, aiming at offering facilities and necessary conditions for patient access to treatment, gains favorable results. In particular, more measures should be taken to catalyze further progress due to behindhand level in this field in China. Additionally, therapeutic methods of rare diseases were also discussed.
China ; Humans ; Orphan Drug Production ; Rare Diseases ; genetics ; therapy

Health Personnel ; psychology ; Humans ; Love ; Rare Diseases ; therapy

Subglottic pleomorphic adenoma is a rare disease . Surgery is the main curative treatment. To review some clinical cases and to summarize the characteristics and treatment experience of this disease,it is expected that we can provide more clinical thought and therapeutic strategy for subglottic pleomorphic adenoma.
Adenoma, Pleomorphic ; therapy ; Humans ; Hypothermia, Induced ; Rare Diseases