Research progress in Haim-Munk syndrome

Haim-Munk syndrome is an extremely rare autosomal recessive genetic disease, characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, arachnodactyly, acro-osteolysis, pes planus foot and nail atrophic deformation. Studies have shown that the disease is often caused by parental consanguinity and is associated with homozygous mutations in the Cathepsin C (CTSC) gene. At present, there are few related articles, most of which are case reports. Few studies have been conducted on the etiology and pathogenesis thereof. Patients are often confronted with the problems of missed diagnosis, misdiagnosis and poor therapeutic efficacy. Based on the current research status at home and abroad, this paper reviews the pathogenesis, clinical manifestations, histopathology and immunohistochemistry, diagnosis and differential diagnosis, treatment and prognosis of HMS, in order to provide reference for the clinical diagnosis and the treatment

Energy and Arginine Density in the Diets of Arbor Acre Hens from 40 to 50 Weeks of Age: Effects on Development and Lipid Metabolism of Embryos

The effects of maternal dietary energy and arginine level on embryonic development and serum lipid metabolism were investigated in this study. A 2 × 3 factorial experiment was conducted with six treatments represented by 10 replicates of eight Arbor Acre broiler breeder hens each. Diets fed from 40 to 50 weeks of age were formulated to contain two digestible arginine levels (9.6 g/kg and 14.5 g/kg) and three metabolic energy levels (10.08 MJ ME/kg, 11.88 MJ ME/kg, and 13.68 MJ ME/kg). Artificial insemination was used, and eggs collected from 50 weeks of hens’ age were hatched. Embryonic growth, biochemical and endocrine indexes of embryonic serum and allantoic fluid were measured on different embryonic days (E). The results were as follows: Egg weight (E0, E11, E13) and embryonic weight (E12, E15) in the high-energy group (13.68 MJ ME/kg) were significantly decreased (p p p p p p p p p < 0.01). In conclusion, maternal restricted feeding improved embryonic development and regulated lipid metabolism-related indices in embryonic serum. Maternal dietary addition of digestible arginine had a significant effect on lipid metabolism indices in embryos. There was a maternal effect of maternal dietary energy and arginine levels on embryo growth and development. The deposition of maternal nutrients affects the development of embryos