Objective To study the value of diffusion tensor imaging(DTI) in early assessment of prognosis of hypoxic-ischemicencephalopathy(HIE) in new infants. Methods 96 cases of full term infants with HIE underwent DTI examinations at 0～12 days and 6～36 months. Based on clinical diagnostic criteria, 96 cases were divided into three groups: mild, moderate and severe HIE groups. Fractional anisotropy(FA) values in the corpus callosum splenium and the posterior limb of internal capsules were measured. Results (1) Varying degrees of FA groups was significantly different from the same site, increased linearly with time,but the magni-tude of change was different;(2)When FA value of corpus callosum splenium in the cut-off point was ≥0.437,the sensitivity(SE) was 83.8% , the specificity(SP) was 18.6% , ROC area under the curve was 0.903 , 95% confidence interval was from 0.846 to 0.961,standard error was 0.029;when FA value of posterior limb of internal capsule in the cut-off point ≥0.391,SE was 86.5%, SP was 11.9% ,ROC area under the curve was 0.940,95% confidence interval was from 0.898 to 0.984,standard error was 0.022. Conclusion MR DTI examination is of significant value in evaluating early the prognosis of HIE in infants.

[ ABSTRACT ] AIM: To characterize the phenotypic and genetic features of a patient with Lowe syndrome. METHODS:The clinical data and the MRI of a ten-month-old patient were analyzed.At the same time, all exons of the OCRL gene of the patient and his parents were amplified and Sanger-sequenced.RESULTS:Clinical analysis revealed that the patient has abnormal vision, nystagmus, congenital cataract, hypotonia, proteinuria, hematuria and psychomotor retar-dation.MRI showed white matter myelination delay, bilateral frontal and temporal dysplasia, and subarachnoid cavity en-largement.The results of PCR and Sanger sequencing detected a de novo mutation, NM_000276.3: c.1280-1281delTT (p.Cys428Hisfs*2), a deletion causing a frame shift.To our knowledge, this mutation in OCRL gene has not been repor-ted previously.CONCLUSION:The clinical manifestations suggested a phenotype of Lowe syndrome, and molecular ge-netic testing confirmed the diagnosis.The novel de novo mutation enriches the OCRL mutation spectrum.

BACKGROUND/OBJECTIVES: 4-Hydroxy-2-nonenal (HNE) is a biomarker for oxidative stress to induce inflammation. Methionine is an essential sulfur-containing amino acid with antioxidative activity. On the other hand, the evidence on whether and how methionine can depress HNE-derived inflammation is lacking. In particular, the link between the regulation of the nuclear factor-κB (NF-κB) signaling pathway and methionine intake is unclear.This study examined the link between depression from HNE accumulation and the antiinflammatory function of L-methionine in rats.MATERIALS/METHODS: Male Wistar rats (3-week-old, weighing 70–80 g) were administered different levels of L-methionine orally at 215.0, 268.8, 322.5, and 430.0 mg/kg body weight for two weeks. The control group was fed commercial pellets. The hepatic HNE contents and the protein expression and mRNA levels of the inflammatory mediators were measured. The interleukin-10 (IL-10) and glutathione S-transferase (GST) levels were also estimated. RESULTS: Compared to the control group, hepatic HNE levels were reduced significantly in all groups fed L-methionine, which were attributed to the stimulation of GST by L-methionine. With decreasing HNE levels, L-methionine inhibited the activation of NF-κB by up-regulating inhibitory κBα and depressing phosphoinositide 3 kinase/protein kinase B. The mRNA levels of the inflammatory mediators (cyclooxygenase-2, interleukin-1β, interleukin-6, inducible nitric oxide synthase, tumor necrotic factor alpha) were decreased significantly by L-methionine. In contrast, the protein expression of these inflammatory mediators was effectively down regulated by L-methionine. The anti-inflammatory action of L-methionine was also reflected by the up-regulation of IL-10. CONCLUSIONS This study revealed a link between the inhibition of HNE accumulation and the depression of inflammation in growing rats, which was attributed to L-methionine availability. The anti-inflammatory mechanism exerted by L-methionine was to inhibit NF-κB activation and to up-regulate GST.

OBJECTIVETo screen for mutations of NTRK1 gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).

METHODSGenomic DNA was extracted from the proband and her family members. All of the 17 exons and intron-exon boundaries of the NTRK1 gene were analyzed by direct Sanger sequencing. For the deletional mutation, the PCR products were subjected to T-A cloning and sequencing to verify the mutation.

RESULTSNTRK1 gene analysis revealed that proband has carried a c.1786C>T (p.Arg596*) nonsense mutation inherited from her mother and a novel deletional mutation c.1928-2028+23del from her father. Her elder brother only carried the deletional mutation.

CONCLUSIONThe diagnosis of CIPA relied on typical clinical symptoms of no pain, anhidrosis and intellectual disability and detection of the biallelic NTRK1 mutations. The novel deletional mutation has enriched the spectrum of NTRK1 mutations.

Child, Preschool ; DNA Mutational Analysis ; Exons ; Female ; Hereditary Sensory and Autonomic Neuropathies ; diagnosis ; genetics ; Humans ; Mutation ; Receptor, trkA ; genetics