Anti-Bacterial Agents ; pharmacology ; Humans ; Methicillin ; pharmacology ; Methicillin Resistance ; genetics ; Sequence Homology ; Staphylococcus aureus ; drug effects ; genetics

Objective: To study the clinical characteristics, methods of diagnosis and treatment of hyperornithinemia-hyperammonemia- homocitrullinuria (HHH) syndrome. Method: From July 2011 to August 2016, 3 Chinese patients with HHH syndrome were enrolled in this study. The clinical course, biochemical features, brain MRI findings, and gene mutations were analyzed. Result: The three patients′ age at onset of symptoms was 3 months to 7 years, and the age of diagonosis was 3 years and 10 months to 9 years and 10 months. All of them presented with intolerance to protein-rich foods from the infant period, development retardation and abnormal posture. Case 1 and 2 had moderate mental retardation. Serum ammonia 25-276 μmol/L (reference range<60 μmol/L), alanine aminotransferase (ALT) 20-139 IU/L (reference range 9-50 IU/L), ornithine 29.12-99.44 μmol/L(reference range 15-100 μmol/L), urinary orotic acid 1.49-29.75 mmol/mol Cr (reference range 0-7 mmol/mol Cr), uracil 6.09-103.97 mmol/mol Cr (reference range 0-1.5 mmol/mol Cr). The cranial MRI revealed lesions in the basal ganglia, abnormal white matter signal, progressive demyelination and cerebral atrophy. On their SLC25A15 gene, a novel homozygous missense mutation c. 416A>G (p.E139G) was identified in case 1, a known pathogenic homozygous nonsense mutation c. 535C>T was found in case 2 and 3. Liver transplantation had been performed when case 1 was 6 years old. Significant improvements were observed in dietary habit, mental and motor functions, and biochemical parameters. After the dietary intervention with the supplements of arginine, L-carnitine, case 2 was improved, spastic paraplegia of case 3 had no mitigation. Liver transplant was recommended. Conclusion HHH syndrome has an aversion to protein-rich food, and the patients have recurrent vomiting and progressive neurological dysfunction. Clinical diagnosis of HHH syndrome is difficult and patients may present with incomplete biochemical phenotype. The genetic analysis is key for the diagnosis. Depending on their condition, individuals with HHH syndrome can be treated with a low-protein diet, drugs and liver transplantation.

Objective:To investigate clinical features and prognosis of purulent meningitis in premature infants versus full-term infants and to better understand purulent meningitis and improve the diagnosis and treatment of purulent meningitis in infants. Methods:The clinical data of 54 infants with purulent meningitis who received treatment in Shanxi Children's Hospital, China between January 2017 and December 2019 were included in this study. The included infants were divided into preterm group (gestational age < 37 weeks, n = 11) and full-term group (gestational age 37-42 weeks, n = 43) according to different gestational ages. Clinical features and cerebrospinal fluid biochemical indexes (white blood cell count, protein concentration, glucose level) as well as total effective rate were compared between the preterm and full-term groups. Results:The main clinical features of neonatal purulent meningitis were fever, bradykinesia, low amount of milk intake, convulsion, lethargy, irritability, increased intracranial pressure, hypotonia or hypertonia. Hypotonia was the prominent manifestation in the preterm group, while fever, convulsion and bradykinesia were the prominent manifestations in the full-term group. White blood cell count and cerebrospinal fluid glucose level in the preterm group were significantly higher than those in the full-term group ( t = 2.215, 2.023, both P < 0.05), but cerebrospinal fluid protein level in the preterm group was significantly higher than that in the full-term group ( t = 2.437, P < 0.05). There was no significant difference in total effective rate between preterm and full-term groups [90.91% (10/11) vs. 90.70% (39/43), χ2 = 0.001, P > 0.05]. Conclusion:The clinical features of neonatal purulent meningitis are not specific, and the clinical features of premature infants with purulent meningitis are not typical. It is necessary to carefully observe the clinical manifestations of premature infants with purulent meningitis and detect the biochemical indexes of cerebrospinal fluid to strive for early diagnosis and treatment.