Objective To investigate the value of strong ion gap (SIG) in predicting the severity of acute pancreatitis (AP) based on the revised Atlanta classification. Methods A total of 133 patients with AP admitted from January, 2015 to December, 2016 were enrolled. Of them, there were 55 with mild AP (MAP), 52 with moderately severe AP (MSAP) and 26 with severe AP (SAP). All patients with AP conformed to the diagnostic criteria of Guidelines or Diagnosis and Treatment of Acute Pancreatitis set in 2014 in China. Patients with other underlying diseases that might influence the clinical outcome were excluded, including those with diabetic ketoacidosis, chronic renal failure and other disorders. The changes in blood SIG levels in each group were observed. The correlations between SIG and acute physiology, chronic health evaluation (APACHE) Ⅱ score, Ranson score and length of hospital stay were analyzed. The receiver operating characteristic curves (ROC) were plotted to determine the efficiency of SIG, Scr, APACHE Ⅱ score, and Ranson score for predicting the severity of acute pancreatitis. Results The level of SIG in the SAP group was the highest, followed by the MSAP group and the lowest in the MAP group.There were significant differences in pairwise comparisons (P<0.01). The correlations between SIG and APACHE Ⅱ score (r=0.567, P<0.01), Ranson score (r=0.502, P<0.01), and length of hospital stay were positive (r=0.589, P<0.01). There was no statistical difference in the area under curve (AUC) between SIG and APACHE Ⅱ score (0.874±0.029 vs.0.895±0.025, P>0.05) and as well as Ranson score (0.874±0.029 vs. 0.890±0.027, P>0.05) for predicting moderately-severe acute pancreatitis, but SIG was superior to Scr (0.874±0.029 vs. 0.735±0.043, P<0.01). There was a significant difference in AUC between SIG and Scr (0.910±0.030 vs. 0.755±0.054, P<0.01), but no statistical differences between SIG and APACHE Ⅱ score (0.910±0.030 vs. 0.867±0.034, P>0.05) and Ranson score (0.910±0.030 vs. 0.871±0.032, P>0.05) for predicting severe acute pancreatitis. Conclusion SIG has important clinical significance for predicting the severity of acute pancreatitis.

OBJECTIVE: To analyze genetic variant in a pedigree affected with congenital high myopia. METHODS: Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis. RESULTS: WES has identified a novel splice site heterozygous variant (c.2556+1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+PM2). CONCLUSION A novel splice variant (c.2556+1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.
Collagen Type XI ; genetics ; Genetic Testing ; Heterozygote ; Humans ; Myopia ; genetics ; Pedigree ; Whole Exome Sequencing

OBJECTIVETo screen for mutations in the neurotrophic tyrosine kinase receptor type 1 (NTRK1) gene in a Chinese family affected with congenital insensitivity to pain with anhidrosis (CIPA).

METHODSWith informed consent obtained, peripheral blood samples were obtained from the patient and his family members. Seventeen coding exons and intron-exon boundaries of the NTRK1 gene were amplified with PCR and analyzed by direct sequencing.

RESULTSA novel mutation c.2086_2087insC (p.Arg696 fsx) was identified in exon 16 of the NTRK1 gene in the proband. This insertion has caused open reading frame shifting and a premature termination has occurred just one codon downstream. Truncation of 72 amino acids at the C terminus has wiped out part of the tyrosine kinase domain (TKD) of the protein. Both of the proband's parents and two grandmothers have carried the c.2086_2087insC (p.Arg696 fsx) mutation. No mutation was found in the NTRK1 gene of other siblings.

CONCLUSIONMutation analysis of the NTRK1 gene has been carried out in a Chinese family affected with CIPA, and a novel NTRK1 gene mutation was identified.

Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; Exons ; genetics ; Hereditary Sensory and Autonomic Neuropathies ; genetics ; Humans ; Male ; Mutation ; Polymerase Chain Reaction ; Receptor, trkA ; genetics

Objective:To investigate the serum thyroglobulin (Tg) levels of women in early pregnancy in Dali City, Yunnan Province, and provide a scientific basis for evaluation of individual iodine nutrition of early pregnant women in this area.Methods:Dali City, Yunnan Province was divided into 5 sampling areas according to east, west, south, north and middle. One township (town) was selected from each area, and at least 20 women in early pregnancy were selected from each township (town) as survey subjects. General condition and medical history of all subjects were collected, and random urine samples and fasting venous blood samples were collected for determination of urinary iodine and thyroid function indexes, and a portable ultrasound machine was used for thyroid ultrasonography. After excluding the patients with a history of thyroid disease and abnormal thyroid function, the level of Tg in the included early pregnant women was analyzed.Results:A total of 120 women in early pregnancy were investigated, aged from 19 to 40 years. Among them, 61 cases came from urban areas and 59 were from rural areas. The median urinary iodine was 156.54 μg/L, which was at the appropriate level of iodine nutrition. A total of 102 women with normal thyroid function in early pregnancy were included, and the Tg level was 11.56 (6.67, 15.27) ng/ml. Among them, 58 cases were in urban areas and 44 cases were in rural areas. There was no significant difference in serum Tg levels between rural and urban women in early pregnancy ( U = 1 362.50, P = 0.559). Conclusion:The serum Tg level of women in early pregnancy in Dali City can provide a reference for evaluation of individual iodine nutrition of relevant populations in this area.

Objective:To investigate and analyze the prevalence of thyroid disease during pregnancy in Dali, Yunnan Province, and to provide scientific basis for prevention and treatment of benign thyroid disease during pregnancy in the region.Methods:From July to December 2014, Dali in Yunnan Province was divided into 5 sampling areas according to east, west, south, north and middle. One township (town) was selected from each area, and at least 20 women in early, middle and late pregnancy, respectively, were selected from each township (town). To conduct this investigation, medical history data was collected, thyroid ultrasound examination and serological indexes of thyroid function test were performed based on the normal reference value of specific thyroid function serological indexes during pregnancy in this region.Results:A total of 370 cases of pregnant women were investigated, including 120 cases in early pregnancy (61 cases in urban areas and 59 cases in rural areas), aged 19 - 40 years; 126 cases in middle pregnancy (60 cases in urban areas and 66 cases in rural areas), aged 19 - 45 years; and 124 cases in late pregnancy (57 cases in urban areas and 67 cases in rural areas), aged 19 - 44 years. The detection rate of thyroid disease in pregnant women was 27.57% (102/370). The detection rate of thyroid dysfunction was 7.57% (28/370), the positive detection rate of thyroid antibody was 11.62% (43/370), and the detection rate of thyroid nodule was 13.51% (50/370). The detection rates of thyroid diseases in early, middle and late pregnancy were 33.33% (40/120), 23.02% (29/126), 26.61% (33/124), respectively, and the difference was not statistically significant(χ 2 = 3.362, P > 0.05). Conclusions:In Daliy, Yunnan Province, there is a high detection rate of thyroid diseases during pregnancy, especially in early pregnancy. Therefore, it is necessary to carry out further large-scale investigation and study to provide a more reliable scientific basis for prevention and treatment of thyroid disease during pregnancy in this region.

OBJECTIVE: To explore the genetic basis for 4 patients with globozoospermia. METHODS: Semen and blood samples were collected from the patients for the determination of sperm concentration, viability, survival rate, morphology and acrosome antigen CD46. Meanwhile, DNA was extracted for whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing. RESULTS: All of the four patients were found to harbor variants of the DPY19L2 gene. Patients 1 ~ 3 had homozygous deletions of the DPY19L2 gene. Sanger sequencing confirmed that the DPY19L2 gene in patient 3 was disrupted at a recombination breakpoint area BP2, resulting in nonallelic homologous recombination and complete deletion of the DPY19L2 gene. Patients 2 and 3 respectively harbored novel homozygous deletions of exons 2 ~ 22 and exons 14 ~ 15. Patient 4 harbored heterozygous deletion of the DPY19L2 gene, in addition with a rare homozygous deletion of the 3' UTR region. CONCLUSION DPY19L2 gene variants probably underlay the globozoospermia in the four patients, which has fit an autosomal recessive pattern of inheritance and the characteristics of genomic diseases.
Male ; Humans ; Teratozoospermia/genetics* ; Homozygote ; Semen ; Sequence Deletion ; 3' Untranslated Regions ; Membrane Proteins

Objective: To analyze genetic variant in a pedigree affected with congenital high myopia. Methods: Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis. Results: WES has identified a novel splice site heterozygous variant (c.2556+ 1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+ 1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+ PM2). Conclusion A novel splice variant (c.2556+ 1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.

We conducted a prospective study to assess the non-inferiority of adjuvant chemotherapy alone versus adjuvant concurrent chemoradiotherapy (CCRT) as an alternative strategy for patients with early-stage (FIGO 2009 stage IB-IIA) cervical cancer having risk factors after surgery. The condition was assessed in terms of prognosis, adverse effects, and quality of life. This randomized trial involved nine centers across China. Eligible patients were randomized to receive adjuvant chemotherapy or CCRT after surgery. The primary end-point was progression-free survival (PFS). From December 2012 to December 2014, 337 patients were subjected to randomization. Final analysis included 329 patients, including 165 in the adjuvant chemotherapy group and 164 in the adjuvant CCRT group. The median follow-up was 72.1 months. The three-year PFS rates were both 91.9%, and the five-year OS was 90.6% versus 90.0% in adjuvant chemotherapy and CCRT groups, respectively. No significant differences were observed in the PFS or OS between groups. The adjusted HR for PFS was 0.854 (95% confidence interval 0.415-1.757; P = 0.667) favoring adjuvant chemotherapy, excluding the predefined non-inferiority boundary of 1.9. The chemotherapy group showed a tendency toward good quality of life. In comparison with post-operative adjuvant CCRT, adjuvant chemotherapy treatment showed non-inferior efficacy in patients with early-stage cervical cancer having pathological risk factors. Adjuvant chemotherapy alone is a favorable alternative post-operative treatment.
Female ; Humans ; Uterine Cervical Neoplasms/drug therapy* ; Prospective Studies ; Quality of Life ; Neoplasm Staging ; Chemoradiotherapy ; Chemotherapy, Adjuvant/adverse effects* ; Adjuvants, Immunologic ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use* ; Retrospective Studies