Clinical data were retrospectively analyzed in 20 cases with Hashimoto's thyroiditis complicated with subacute thyroiditis from February 2009 to April 2013.85％ of the patients showed elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP).Thyroid peroxidase antibody (TPOAb) was found in 95 ％ of the patients,while thyroid globulin antibody (TgAb) in 100％.Uptakes of radioactive iodine were lowered.Symptoms such as fever or pain were ameliorated quickly after treatment with glucocorticoids or non-steroidal anti-inflammatory drugs.

T he finite element method (FE m) is a mathematical technique using modern computer tech-nology for stress analysis, and has been gradually used in simulating human body structures in the biomechanical field, especially more widely used in the research of thoracolumbar spine traumatology. T his paper reviews the establishment of the thoracolumbar spine FE m, the verification of the FE m, and the thoracolumbar spine FE mresearch status in different fields, and discusses its prospects and values in forensic thoracolumbar traumatology.

Objective:To report the diagnosis, treatment, and follow-up of a 21-hydroxylase deficiency boy with central precocious puberty caused by complex heterozygous mutation of CYP21A2 gene.Methods:The child was symptomatic of rapid growth and secondary sexual characteristics at the age of 6. The diagnosis of central precocious puberty was confirmed by serum testosterone, gonadotropin levels, and gonadotropin-releasing hormone (GnRH) stimulation test. 21-hydroxylase deficiency was diagnosed clinically based on the serum adrenocorticotropic hormone (ACTH), 17-hydroxyprogesterone levels, and images on the computed comography (CT) of the adrenal glands.Results:The CYP21A2 gene was detected to have a compound heterozygous mutation by Sanger sequencing and multiplex ligation-dependent probe amplification. During the 3 years follow-up, the effects of glucocorticoids, GnRH analogs, and recombinant human growth hormone were regularly monitored and evaluated.Conclusions:Glucocorticoid replacement followed the principle of the lowest effective dose. GnRH analogs showed an effective inhibition of the hypothalamus-pituitary-gonadal axis, while recombinant human growth hormone had no such growth-promoting effect.

Three cases of Langerhans cell histiocytosis (LCH)with central diabetes insipidus as the first manifestation were reported, with the summary of their clinical manifestations, laboratory examinations, imaging examinations, pathological results, diagnosis process, and treatment response. All three patients presented with central diabetes insipidus in the early stage. The pituitary magnetic resonance imaging (MRI)showed thickened pituitary stalks, and all lost the normal high signal of the posterior pituitary. Two patients showed isolated hypothalamic-pituitary lesions, while one case showed pituitary and thyroid systems involvement. Pathological findings showed typical Langerhans cells, immunohistochemistry showed positive for S-100, CD1a, Langerin. The clinical manifestations of LCH manifested distinct heterogeneity, which is easy to be misdiagnosed and left out. The diagnosis should be confirmed by pathological examination. The biopsy of isolated hypothalamic-pituitary lesions is difficult. It is recommended to actively screen other organs to increase the probability of biopsy. LCH-induced neurohypophysis requires life-long hormone replacement therapy.

[Summary] An analysis of clinical data was performed in 6 patients diagnosed as adefovir dipivoxil (ADV)-induced nephropathy in recent 14 months.The results showed that all of six patients suffered from pain over multiple joints after taking ADV 10-20 mg/d for 2-3 years,along with hypophosphatemia,hypouricemia,and raised osteogenesis index.One case had increased serum creatinine,5 cases had hypokalemia,renal glycosuria,and4 cases had albuminuria.Imageological examination showed osteoporosis,osteomalacia,and pseudo fracture.After discontinuance of ADV treatment,joint pain was obviously relieved within 3-6 weeks,blood uric acid level returned to normal within 1-2.5 months,and renal glycosuria and albuminuria disappeared by 1-2 months.The results suggest that after taking ADV for more than two years,attention should be paid to the nephropathy induced by ADV and regular monitoring of renal function,blood electrolyte,and urine should be mandatory.Hypouricemia is a reliable index of diagnosis and treatment in this event.

A case of arginine vasopressin receptor 2 ( AV PR2 ) mutation in a boy with congenital nephrogenic diabetes insipidus was reported.Genomic DNA of the boy and his family members was extracted.The entire coding region of the AVPR2 gene were amplified by PCR.The amplified products were purified and sequenced.The results were compared with the normal one of the gene bank.The impact of the mutation on AVPR2 structure was discussed with respect to homology structure model.The analysis identified a T to G transition in exon 2 of the AVPR2 gene,resulting in substitution of leucine for arginine at amino acid residue 168.Furthermore,the patient′s mother and sister were heterozygous for this mutation,and the father was normol.

Objective To investigate the changes in lung resistance-related protein (LRP) and vascular endothelial growth factor (VEGF) expressions and micro-vessel density (MVD) in non-small cell lung cancer (NSCLC), and to elucidate their possible relationship and mechanism. Methods Immunohistochemistry was used to detect changes in LRP and VEGF expressions, and MVD level in lung tissues of 56 NSCLC cases and 27 normal controls. Results ① LRP expression (66.1%) was concentrated in the cytoplasm of cancer cells, which was significantly higher than that in lung tissues of control group (P<0.01); the significance was not related to the pathological type. There was no significant difference in LRP expression among gender, TNM stage, lymph node metastasis, and two-year survival in NSCLC (P>0.05). ② In comparison to the control group, NSCLC group had significantly increased VEGF expression (P<0.01), which was not related to the pathological type. VEGF expression in NSCLC group had a significant association with TNM stage and lymph node metastasis (P<0.05). ③ The NSCLC group had a significantly higher MVD than the control group (P<0.01), which was not affected by the pathological type or degree. MVD value (18.5±5.8) of stage Ⅲ and Ⅳ in NSCLC group was significantly higher than that (13.8±5.1) of stage Ⅰ (P<0.05); MVD value for patients with lymph node metastasis was higher than that without lymph node metastasis (P<0.05); MVD value for patients with two-year survival was less than those who died within two years (P<0.01). ④ NSCLC group with high VEGF and LRP expressions had a consistently increased MVD value (P<0.05). Conclusion There is a certain relationship between tumor angiogenesis and LRP expression in NSCLC. VEGF is responsible for the high expression of LRP through up-regulating LRP gene and augmenting tumor MVD. Inhibition of angiogenesis in tumor is expected to reduce or inhibit drug resistance to NSCLC.

The study was initiated from a child with diabetes. After we collected his clinical data and traced back his family history of diabetes, a clinical diagnosis of maturity-onset diabetes of the young(MODY)was made. To amplify and sequence the target gene, the genomic DNA was extracted from the anticoagulant blood samples of the patient and his first-degree relatives, revealing a missense mutation(c.779C>T)in exon 4 of hepatocyte nuclear factor-1α in the proband and his father. The above sequencing result confirms the diagnosis of MODY3. During one year follow-up, the proband achieved the strict control of blood glucose with the use of repaglinide and his father got a notable improvement of blood glucose after his drug was shifted to the long-acting sulfonylurea.

OBJECTIVETo detect potential mutations of PHEX gene in four pedigrees affected with hypophosphatemic rickets (HR) and provide prenatal diagnosis for a fetus at 13th gestational week.

METHODSThe coding regions and exon/intron boundaries of PHEX, FGF23, DMP1, ENPP1, CLCN5 and SLC34A3 genes of the probands were analyzed by targeted next-generation sequencing (NGS). Suspected mutations were verified by Sanger sequencing among unaffected relatives and 200 unrelated healthy individuals. Deletions were confirmed by multiplex ligation-dependent probe amplification (MLPA) detection of probands, unaffected relatives and 20 unrelated healthy individuals. Prenatal diagnosis for a fetus with high risk was carried out through MLPA analysis.

RESULTSFour PHEX mutations were respectively detected in the pedigrees, which included c.850-3C>G, exon 11 deletion, exon 13 deletion and c.1753G>A (p.G585R). Among these, exon 11 deletion, exon 13 deletion and c.1753G>A (p.G585R) were novel mutations and not found among unaffected relatives and healthy controls. In pedigree 3, the same mutation was not found in the fetus.

CONCLUSIONMutations of the PHEX gene probably underlies the disease among the four pedigrees. NGS combined with Sanger sequencing and/or MLPA detection can ensure accurate diagnosis for this disease.

In recent years, the incidence of diabetic kidney disease(DKD) has been increasing gradually, and it has become the leading cause of end-stage renal disease. However, current therapies show limited efficacy in preventing the progression of DKD. Against the backdrop of chip and high-throughput sequencing, long non-coding RNAs are revealed to an important role in the pathogenesis of DKD. This article summarizes the research progress of long non-coding RNA in DKD, and look forward to the more extensive application of long non-coding RNA in the future.