A 20-year-old male patient presented to the Department of Dermatology of Peking Union Medical College Hospital with complaints of an 8-year history of facial scarring, swelling of the lower limbs, and a 4-year history of scalp thickening. Physical examination showed thickening furrowing wrinkling of the skin on the face and behind the ears, ciliary body hirsutism, blepharoptosis, and cutis verticis gyrate. Both lower limbs were swollen, especially the knees and ankles. The skin of the palms and soles of the feet was keratinized and thickened. Laboratory examination using bone and joint X-ray showed periostosis of the proximal middle phalanges and metacarpals of both hands, distal ulna and radius, tibia and fibula, distal femurs, and metatarsals.Genetic testing revealed two variants in SLCO2A1, c.1658T > A and c.96+4A > C.Through multidisciplinary consultation, we confirmed the diagnosis of pachydermoperiostosis.

Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.

Schimke immuno-osseous dysplasia (SIOD)caused by SMARCAL1 gene mutations is a rare genetic disorder characterized by multi-system involvement, including T-cell dysfunction, skeletal dysplasia, disproportionate short stature, nephrotic syndrome, and kidney failure. This multidisciplinary consultation involved a 9-year-old boy with intrauterine growth retardation, presenting with short stature, T-cell lymphopenia, proteinuria, and degenerative bone and joint disease. Treatment primarily focused on symptomatic and supportive care. Through the multidisciplinary rare disease consultation, holistic support was provided to the patient, offering comprehensive care from various specialtiesx.We also aim to use this case report to enhance clinicians′ under-standing of SIOD and improve the management and treatment of rare diseases.

Long-acting injectables(LAIs) play an important role in the field of drug preparation research because they can control drug release for a long time and decrease dosing frequency. In this review, two types of LAIs, including injectable microspheres and in situ forming gel implants, were used as the breakthrough point to analyze the strategies and technologies used in the formulation and process to achieve long-acting drug release.At the same time, in view of the common burst release phenomenon, the relevant coping strategies in the current research were summarized, which provides some reference for the design, development and optimization of such long-acting preparations.

objective To compare the technical survival between Tenckhoff double-cuffed straight catheter (TC)and swan-neck curled tip catheter (SNC) in peritoneal dialysis (PD). Methods Clinical data of 208 patients received PD in the Peritoneal Dialysis Center of Peking Union Medical College Hospital from January 1999 to December 2007 were analyzed retrospectively. All the patients were divided into two groups according to indwelling catheter. Technical survival and complications associated with the catheter between two groups were compared. Results Demographics and basic information were similar in both groups. The exit-site infection (ESI) rates of TC and SNC were 22.1% and 19.8% (P=0.786), and peritonitis rates of TC and SNC were 31.1% and 22.1% (P=0.159), which were slightly lower in SNC group, but the difference was not significant. Removal of the catheter was found in 27 (13.0%)patients, including 17 cases in TC group (13.9%) and 10 cases in SNC group (11.6%)(P=0.680).The median survival times of catheter in TC group and SNC group were 25 months and 22 months respectively without significant difference (P=0.103). Conclusions There are no significant differences of ESI rate, peritonitis rate and catheter survival between these two catheters in PD. The expensive swan-neck catheter offers no additional advantage. Doctors should choose the catheter according to the economic status of patients.