[Application Protocol of Standardized Neonatal Parenteral Nutrition Formulations].

With the improvements in medical technology, more premature infants and infants with congenital intestinal malformations or other conditions who need parenteral nutrition (PN) support can survive. PN technology has become an important therapeutic strategy in neonatal intensive care units. Due to differences in the qualifications of medical staffs, hospital pharmacy management, hospital level, etc, the composition and preparation methods of PN prescription vary greatly in different regions and hospitals in China. In addition, delays in the starting time of PN, unreasonable formula of nutrition components, poor prescription review, large workload involved in the preparation of PN for nurses, and waste of drugs are prone to happen. In view of these issues, our hospital independently developed standardized formulas of neonatal PN solution, which has been approved in Australia as a patented invention. Herein, we reported the composition and application protocol of this standardized PN solution for newborns.

[Pedigree Analysis and Diagnosis of Congenital Dysfibrinogenemia: A Case Report].

OBJECTIVE: To improve the understanding and diagnosis and treatment of congenital dysfibrinogenemia (CD) through analyzing the clinical data of a pediatric patient and his pedigree. METHODS: The clinical manifestations, laboratory findings and treatment of a case of CD diagnosed at West China Second University Hospital, Sichuan University and those of its pedigree members were analyzed, and genetic tracing and follow-up were conducted on the patient and its pedigree. RESULTS: The child has no clinical manifestations at the time of admission. Coagulation function examination showed normal prothrombin time (PT), normal activated partial thrombin time (APTT), significantly prolonged thrombin time (TT), fibrinogen activity (Fg: C<0.5 g/L) measured with the Clauss method, and fibrinogen antigen (Fg: Ag) measured at 2.8 g/L with PT algorithm. Gene sequencing results showed that heterozygous missense mutation c.901C>T (p.Arg301Cys) in exon 8 of FGG gene. Combined with the family history, the child was diagnosed with CD. During the follow-up of 4 + months, the patient did not present bleeding, abnormal coagulation or thrombosis, and the coagulation function did not show significant changes compared with the findings obtained on admission. CONCLUSION: The diagnosis of CD is confirmed mainly based on genetic testing and the treatment is characterized by the principle of precise individualized treatment. No special treatment is needed for patients presenting no clinical manifestations. However, it is important to provide thorough prenatal diagnosis and follow-up services for female patients planning for pregnancy so as to prevent miscarriage and complications caused by postpartum coagulation dysfunction.