Liver transplantation for late-onset ornithine transcarbamylase deficiency: A case report.

Background: Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disorder and characterized by marked elevation of blood ammonia. The goal of treatment is to minimize the neurological damage caused by hyperammonemia. OTCD can be cured by liver transplantation (LT).

The effects of ketogenic diet on the Th17/Treg cells imbalance in patients with intractable childhood epilepsy.

Purpose: The ketogenic diet (KD) is an effective treatment for intractable epilepsy (IE), however the therapeutic mechanism is still unclear. This study was designed to investigate T helper type 17/regulatory T cell (Th17/Treg) levels in children with IE and age-matched healthy controls following KD.

Method: Circulating levels of Th17/Treg cells were analyzed by flow cytometry.

[Benign infantile convulsions with mild gastroenteritis: clinical analysis of 40 cases].

Objective: To investigate the pathogenesis, clinical characteristics and treatment of benign infantile convulsions with mild gastroenteritis (BICG).

Methods: The clinical manifestations and laboratory findings were observed in 40 children with BICG. The antigen and antibodies of rotavirus and calicivirus in stool and cerebral spinal fluid (CSF) were tested by the golden standard method and ELISA.

[Follow-up of tuberous sclerosis complex complicated by epilepsy in children].

Objective: To investigate the treatment outcome and risk factors for intractable seizures in children with tuberous sclerosis complex(TSC)complicated by epilepsy.

Methods: The medical data of 66 cases of TSC were retrospectively studied.

Results: Of the 66 children with TSC, 47 cases were available for follow-up.