Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.@*METHODS@#Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.@*RESULTS@#The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.@*CONCLUSION@#The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.

Effect of improvement in antibiotic use strategy on the short-term clinical outcome of preterm infants with a gestational age of <35 weeks / 中国当代儿科杂志

OBJECTIVES@#To study the effect of improvement in antibiotic use strategy on the short-term clinical outcome of preterm infants with a gestational age of <35 weeks.@*METHODS@#The medical data were retrospectively collected from 865 preterm infants with a gestational age of <35 weeks who were admitted to the Neonatal Intensive Care Unit of Xiangya Hospital of Central South University from January 1, 2014 to December 31, 2016. The improved antibiotic use strategy was implemented since January 1, 2015. According to the time of implementation, the infants were divided into three groups: pre-adjustment (January 1, 2014 to December 31, 2014; n=303), post-adjustment Ⅰ (January 1, 2015 to December 31, 2015; n=293), and post-adjustment Ⅱ (January 1, 2016 to December 31, 2016; n=269). The medical data of the three groups were compared.@*RESULTS@#There were no significant differences among the three groups in gestational age, proportion of small-for-gestational-age infants, sex, and method of birth (P>0.05). Compared with the pre-adjustment group, the post-adjustment I and post-adjustment Ⅱ groups had a significant reduction in the rate of use of antibiotics and the duration of antibiotic use in the early postnatal period and during hospitalization (P<0.05), with a significant increase in the proportion of infants with a duration of antibiotic use of ≤3 days or 4-7 days and a significant reduction in the proportion of infants with a duration of antibiotic use of >7 days in the early postnatal period (P<0.05). Compared with the post-adjustment Ⅰ group, the post-adjustment Ⅱ group had a significant reduction in the duration of antibiotic use in the early postnatal period and during hospitalization (P<0.05), with a significant increase in the proportion of infants with a duration of antibiotic use of ≤3 days and a significant reduction in the proportion of infants with a duration of antibiotic use of 4-7 days or >7 days (P<0.05). Compared with the pre-adjustment group, the post-adjustment I and post-adjustment Ⅱ groups had significantly shorter duration of parenteral nutrition and length of hospital stay (P<0.05). There were gradual reductions in the incidence rates of grade ≥Ⅲ intraventricular hemorrhage (IVH) and late-onset sepsis (LOS) after the adjustment of antibiotic use strategy. The multivariate logistic regression analysis showed that the adjustment of antibiotic use strategy had no effect on short-term adverse clinical outcomes, and antibiotic use for >7 days significantly increased the risk of adverse clinical outcomes (P<0.05).@*CONCLUSIONS@#It is feasible to reduce unnecessary antibiotic use by the improvement in antibiotic use strategy in preterm infants with a gestational age of <35 weeks, which can also shorten the duration of parenteral nutrition and the length of hospital stay and reduce the incidence rates of grade ≥Ⅲ IVH and LOS.

Ginger-partitioned moxibustion plus pediatric massage for treating infantile diarrhea due to spleen deficiency: a randomized controlled clinical trial / 针灸推拿医学（英文版）

Objective: To observe the clinical efficacy of ginger-partitioned moxibustion plus pediatric massage (tuina) in treating infantile diarrhea due to spleen deficiency. Methods: Ninety infants were randomly divided into a massage plus moxibustion group, a massage group and a drug group by the random number table method, with 30 cases in each group. The intervention was conducted for two consecutive courses. The infants in the massage plus moxibustion group were treated with pediatric massage and ginger-partitioned moxibustion at Shenque (CV 8). The infants in the massage group were treated with pediatric massage alone, while those in the drug group were treated with smecta. The primary and secondary symptom scales were assessed before and after treatment and at the follow-ups, and the total effective rate was evaluated after treatment. Results: The total effective rate in the massage plus moxibustion group was significantly different from that in the massage group and drug group (both P<0.05). After treatment, the scores of primary and secondary symptoms decreased in all three groups, with statistically significant intra-group differences (all P<0.05); the scores of primary symptoms were significantly different between the massage plus moxibustion group and the drug group (P<0.05); the scores of secondary symptoms in the massage plus moxibustion group and the massage group were significantly different from that in the drug group (both P<0.05). The differences in the time to recover normal bowel movement frequency among the three groups were not statistically significant (P>0.05). Conclusion: Ginger-partitioned moxibustion plus pediatric massage compared with pediatric massage or smecta monotherapy shows superior clinical efficacy in treating infantile diarrhea due to spleen deficiency, and has the advantages of appetite improvement, physique strengthening and short course.

Research on prenatal genetic diagnosis of fetal renal cystic disease / 中华肾脏病杂志

Objective:To summarize the diagnosis features of the prenatal genetic diagnosis of fetal renal cystic disease and to explore the clinical feasibility and significance of prenatal genetic diagnosis of congenital cystic nephrosis.Methods:A total of 25 fetuses with congenital renal cystic disease were examined via invasive prenatal diagnosis in Henan Provincial People's Hospital from June 2017 to September 2019. Amniotic fluid samples were extracted by amniocentesis. Chromosomal microarray analysis (CMA) were performed in 17 cases. In addition to CMA, the other 8 cases were analyzed by G-band karyotype. Whole exome sequencing (WES) was performed in 6 cases which got normal results by CMA and karyotype, and highly suspected as hereditary disease.Results:Of the 25 fetuses assessed, 4 cases (16.0%) pathogenic copy number variation (pCNV) were found, including 2 cases of 17q12 deletion, 1 case of 10p15.1p14 deletion and 1 case of 4q21.28q22.1 deletion(including PKD2 gene). There were 8 cases without chromosome abnormality by karyotype analysis. Six clinical WES analysis found NPHS1 gene c.1440+1 G>A and c.925G > T mutations were related to Finnish type congenital nephrotic syndrome in 1 case, PKD1 gene c.6878C>T mutation was related to autosomal dominant polycystic kidney disease (ADPKD) in 1 case, and there was no definitive mutation in 4 cases. Conclusions:CMA and next generation sequencing are powerful tools for accurate diagnosis, treatment and genetic counseling of fetal congenital renal cystic diseases. For congenital cystic nephropathy, genetic detection is helpful to clarify the etiology, and provide more exactly informations for prognosis evaluation, treatment and family genetic counseling.

Analysis of peptides and proteins from Asini Corii Colla using nano LC-Q-Exactive-MS/MS / 中国中药杂志

This paper aims to systematically analyze the peptides and proteins from Asini Corii Colla(ACC) through shotgun proteomics. After high-pH reversed-phase fractionation, the proteins and peptides in the hydrolysate of ACC were further separated by nano LC-Q-Exactive-MS/MS under the following conditions: Thermo Scientific EASY column(100 μm×2 cm, 5 μm, C_(18)) as precolumn, Thermo Scientific EASY column(75 μm×100 mm, 3 μm, C_(18)) for solid phase extraction, gradient elution with 0.1% formic acid in water(mobile phase A) and 84% acetonitrile in water containing 0.1% formic acid(mobile phase B), and MS in positive ion mode. Based on Uniprot_Equus caballus, MS data, and literature, 2 291 peptides were identified from ACC by MaxQuant, with 255 Maillard reactions(AML, CML, CEL)-modified peptides identified for the first time. Through alignment, the peptides were found to belong to 678 equine proteins. In conclusion, the combination of nano LC-Q-Exactive-MS/MS and shotgun proteomics achieved rapid and accurate identification of the proteins and peptides in ACC, which provides the key information and new insights for further investigation of chemicals and effective substances in ACC.

Practice of standardized training of clinical medical genetics / 中华医学教育探索杂志

In 2014, the training of clinical medical genetics was included in the training sequence of resident standardized training in China. The standardized training of clinical geneticist in China started relatively late. As a whole, the training and qualification system of clinical hereditary physicians are still in the process of development and perfection. Based on "Rules for the training of department of medical genetics", basic medical genetics resident training system was established in Henan Provincial People's Hospital. Additionally, we took advantage of interactive online education platform, multiple disciplinary team, the analysis of positive case report, literature report and other teaching practices combined with the tutor system. After 4 years of exploration and practice, the program can quickly improve the residents' comprehensive ability, such as theoretical knowledge, professional literacy, clinical practice skills, and scientific research ability.

Efficacy and mechanism of electroacupuncture on insulin resistant polycystic ovary syndrome / 中国针灸

OBJECTIVE@#To explore the therapeutic effect and partial mechanism of electroacupuncture (EA) for patients with insulin resistance (IR) polycystic ovary syndrome (PCOS).@*METHODS@#Seventy patients with IR-PCOS were randomly divided into an EA group (36 cases, 5 cases dropped off) and a medication group (34 cases, 4 cases dropped off). The patients in the medication group were treated with oral administration of metformin hydrochloride, 500 mg each time, twice a day. The patients in the EA group were treated with EA (continuous wave, 2 Hz of frequency) at Zusanli (ST 36), Zhongwan (CV 12), Qihai (CV 6), Yishu (EX-B 3), Shenshu (BL 23), Pishu (BL 20), Ciliao (BL 32) for 30 min, three times a week. One menstrual cycle or 4 weeks were taken as a course of treatment, and 3 continuous courses were given. The follow-up was 3 months. The lipid metabolism indexes of triacylglycerol (TG), total cholesterol (TC), high-density lipoprotein (HDL) and low-density lipoprotein (LDL), homeostasis model assessment-insulin resistance index (HOMA-IR) and testosterone (T) in serum were compared before and after treatment, and the clinical effects of the two groups were evaluated during the follow-up.@*RESULTS@#The total effective rate was 67.7% (21/31) in the EA group and 60.0% (18/30) in the medication group, with no significant difference between the two groups (>0.05). After treatment, the levels of serum T, HOMA-IR, LDL, TG and TC were decreased significantly in the two groups (<0.01, <0.05), and HDL was increased significantly (<0.01); the levels of TC in the EA group after treatment was lower than that in the medication group (<0.05).@*CONCLUSION@#EA may adjust some dyslipidemia in patients to correct IR and improve endocrine disorder of PCOS, which had superior/similar effects to metformin.

Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF).@*Methods@#Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing.@*Results@#The fetus was found to carry compound heterozygous variants c. 1440+ 1G>A and c. 925G>T of the NPHS1 gene, which were respectively inherited from its mother and father.@*Conclusion@#Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.

Prenatal diagnosis and genetic analysis of increased fetal nuchal translucency due to 2p15-16.1 microdeletion: a case report / 中华围产医学杂志

We reported the prenatal molecular diagnosis and pregnant outcome of a fetus with increased nuchal translucency.The ultrasound findings of the gravida at 12+5 gestational weeks indicated that the fetal nuchal translucency thickness was 4.5 mm,and non-invasive prenatal testing suggested as low risk.Amniocentesis was performed at 18 gestational weeks.Fetal chromosomal karyotype was normal but chromosome microarray comparative genomic hybridization analysis identified a 1.878 Mb deletion on chromosome 2p15-16.1.No copy number variation was found in the parents.The microdeletion was also verified by multiplex ligation-dependent probe amplification.Literature reported that chromosome 2p 15-16.1 microdeletion syndrome was characterized by mental retardation,language developmental disorder,microcephaly and so on.This case we reported here was a de novo 2p 15-16.1 microdeletion which contained the critical region and genes of 2p 15-16.1 microdeletion syndrome and was inferred to be a pathogenetic mutation.The gravida chose to terminate the pregnancy after genetic consultation.

Recurrent Angelman syndrome caused by a rare partial deletion of UBE3A gene / 中华医学遗传学杂志

OBJECTIVE@#To provide genetic testing for two brothers with mental retardation and epilepsy.@*METHODS@#Array comparative genomic hybridization (aCGH) was used to detect copy number variations in the two patients, their parents and maternal grandparents. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was utilized to delineate the deleted region in the pedigree.@*RESULTS@#A 138 kb deletion in 15q11.2 region was detected by aCGH in both patients, which encompassed part of the UBE3A gene. MS-MLPA has narrowed down the region to exons 8 to 14 of the UBE3A gene. The same deletion was also found in their mother and grandfather.@*CONCLUSION@#The pathogenesis of this rare form of recurrent Angelman syndrome may be attributed to the partial deletion of maternal UBE3A gene.

Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF).@*METHODS@#Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing.@*RESULTS@#The fetus was found to carry compound heterozygous variants c.1440+1G>A and c.925G>T of the NPHS1 gene, which were respectively inherited from its mother and father.@*CONCLUSION@#Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.

Postoperative Radiotherapy Improves Survival in Gastric Signet-Ring Cell Carcinoma: a SEER Database Analysis

PURPOSE: To identify the potential therapeutic role of postoperative radiotherapy (RT) in patients with locally advanced (stage II and stage III) gastric signet ring cell carcinoma (SRC).MATERIALS AND METHODS: Patients with locally advanced gastric SRC from the Surveillance, Epidemiology, and End Results program database between 2004 and 2012 were included in our study. Univariate and multivariate Cox proportional models were performed, and survival curves were generated to evaluate the prognostic effect of postoperative RT and surgery alone on SRC patients. Propensity score matching (PSM) was used to avoid selection bias among the study cohorts.RESULTS: We found that patients with postoperative RT had better probability of survival compared with those who did not receive RT (overall survival [OS], P<0.001; cancer-specific survival [CSS], P<0.001). After PSM, analysis of both overall and CSS showed that patients who underwent postoperative RT had better prognosis than those receiving surgery alone in the matched cohort (OS, P=0.00079; CSS, P=0.0036). Multivariate Cox proportional model indicated that postoperative RT had better effect on prognosis compared with surgery alone with respect to both overall (hazard ratio [HR], 0.716; 95% confidence interval [95% CI], 0.590–0.87; P=0.001) and CSS (HR, 0.713; 95% CI, 0.570–0.890; P=0.003).CONCLUSIONS: Postoperative RT had better prognosis compared with surgery alone for both overall and CSS for patients with locally advanced gastric SRC.

Warm needling moxibustion versus electroacupuncture for simple obesity due to yang deficiency of the spleen and kidney: a controlled clinical trial / 针灸推拿医学（英文版）

Objective: To compare the therapeutic efficacy between warm needling moxibustion and electroacupuncture (EA) in the treatment of simple obesity due to yang deficiency of the spleen and kidney. Methods: Seventy patients with simple obesity due to yang deficiency of the spleen and kidney were randomly divided into a warm needling moxibustion group and an EA group, with 35 subjects in each group. Same major acupoints were selected for the two groups, including Shuifen (CV 9), Guanyuan (CV 4), Daheng (SP 15), Shuidao (ST 28), Shousanli (LI 10), Zusanli (ST 36), Sanyinjiao (SP 6) and Taixi (KI 3). The warm needling moxibustion group received warm needling moxibustion, while the EA group received EA treatment. The interventions were performed once every other day, with 15 treatments as one course. The therapeutic efficacy, body weight and body mass index (BMI) were then observed and compared. Results: The total effective rate in the warm needling moxibustion group was 85.7％ versus 77.1％ in the EA group, and the between-group difference was statistically significant (P<0.05). The warm needling moxibustion was remarkably superior to the EA in weight loss and lowering BMI, both with statistical significance (P<0.05, P<0.01). At the three-month follow-up, the body weight and BMI further decreased in the warm needling moxibustion group (both P<0.05), and the levels were lower than those in the EA group (P<0.05, P<0.01). Conclusion: Warm needling moxibustion can produce reliable and consistent efficacy in the treatment of simple obesity due to yang deficiency of the spleen and kidney. Compared with EA, warm needling moxibustion shows advantage in both short-term and long-term efficacies, and thus is worth promotion in clinical practice.

Effect of acupuncture at Zusanli on T Iymphocyte subsets in mesenteric lymph nodes of spleen deficiency syndrome rats / 中国组织工程研究

BACKGROUND: Intestinal and lymphoid tissues constitute an important part of intestinal immunity, which plays an important regulatory role in spleen deficiency and hydronephrosis. OBJECTIVE: To observe the effect of acupuncture on T lymphocyte subsets in lymph nodes of rats with spleen deficiency, and to investigate the correlation of spleen deficiency with intestinal immunity and the mechanism of acupuncture for spleen deficiency syndrome. METHODS: Thirty-six female Sprague-Dawley rats were randomly divided into three groups: model, acupuncture and blank control groups. The rat model of spleen deficiency was established by fatigue-induced spleen injury plus abnormal diet for 31 days. Afterwards, the rats in the acupuncture group received acupuncture at Zusanli(ST 36).Urine D-xylose excretion rate was detected during modeling and treatment.Then, the mesenteric lymph nodes were removed, and the changes in T lymphocyte subsets in the mesentericlymph nodes were observed by immunohistochemistry. RESULTS AND CONCLUSION: Urine D-xylose excretion rate under spleen deficiency in the modeling and acupuncture groups was significantly lower than that in the blank control group (P < 0.05 or P < 0.01); after acupuncture, the urine D-xylose excretion rate was significantly increased compared with the modeling group (P < 0.01), but still lower than that in the blank control group (P < 0.05). The count of CD4+T lymphocytes, count of CD8+T lymphocytes and ratio of CD4+/CD8+T lymphocytes were ranked as follows: blank control group >acupuncture group>modeling group(P<0.01 or P<0.05).These results suggest that acupuncture at Zusanli can improve the urine D-xylose excretion rate, regulate the balance of T lymphocyte subsets in mesenteric lymph node of rats with spleen deficiency, thus improving the intestinal immune function, spleen deficiency systems, disorder of intestinal digestive function, intestinal digestion and absorption, as well as anorexia, loose stool, diarrhea and other symptoms of the digestive system.

Simultaneous Determination of 4 Active Components in Compound Xiaosuanzao Chewable Tablets by HPLC-ELSD / 中国药房

OBJECTIVE:To establish the method for the content determination of 4 active components in Compound xiaosuanzao chewable tablets.METHODS:HPLC-ELSD method was adopted.The determination was performed on a Grace Brava C18-BDS column with mobile phase consisted of acetonitrile-water (gradient elution) at the flow rate of 1.0 mL/min.The column temperature was 25 ℃,and sample size was 20 μL.The drift tube temperature is 100 ℃,and the carrier gas flow rate is 2.9 L/min.RESULTS:The linear ranges of betulic acid,betulinol,pachymic acid and glycyrrhizic acid were 44.50-890.0 μg/mL (r=0.999 3),20.28-405.6 μg/mL (r=0.999 7),20.50-656.0 μg/mL(r=0.999 7) and 10.50-336.0 μg/mL(r=0.999 6),respectively.RSDs of precision,stability and reproducibility were all lower than 3.0％.The recoveries were 99.44％-101.12％ (RSD=0.57％,n=6),99.41％-100.39％ (RSD=0.34％,n=6),99.31％-100.46％ (RSD=0.51％,n=6),98.96％-101.19％ (RSD=0.84％,n=6),respectively.CONCLUSIONS:The method is simple,precise,stable and reproducible,and can be used for simultaneous determination of 4 active components in Compound xiaosuanzao chewable tablets.

Application of array-based comparative genomic hybridization technique in genetic analysis of ;patients with spontaneous abortion / 中华妇产科杂志

Objective To investigate the value of array-based comparative genomic hybridization (array-CGH) technique for the detection of chromosomal analysis of miscarried embryo, and to provide genetic counseling for couples with spontaneous abortion. Methods Totally 382 patients who underwent miscarriage were enrolled in this study. All aborted tissues were analyzed with conventional cytogenetic karyotyping and array-CGH, respectively. Results Through genetic analysis, all of the 382 specimens were successfully analyzed by array-CGH (100.0%, 382/382), and the detection rate of chromosomal aberrations was 46.6% (178/382). However, conventional karyotype analysis was successfully performed in 281 cases (73.6%, 281/382), and 113 (40.2%, 113/281) were found with chromosomal aberrations. Of these 178 samples identified by array-CGH, 163 samples (91.6%, 163/178) were aneuploidy, 15 samples (8.4%, 15/178) were segmental deletion and (or) duplication cases. Four of 10 cases with small segmental deletion and duplication were validated to be transferred from their fathers or mathers who were carriers of submicroscopic reciprocal translocation. Of these 113 abnormal karyotypes founded by conventional karyotyping, 108 cases (95.6%, 108/113) were aneuploidy and 5 cases (4.4%, 5/113) had chromosome structural aberrations. Most array-CGH results were consistent with conventional karyotyping but with 3 cases of discrepancy, which included 2 cases of triploids, 1 case of low-level mosaicism that undetcted by array-CGH. Conclusions Compared with conventional karyotyping, there is an increased detection rate of chromosomal abnormalities when array-CGH is used to analyse the products of conception, primarilly because of its sucess with nonviable tissues. It could be a first-line method to determine the reason of miscarrage with higher accuracy and sensitivity.

Histological and ultrastructural features of giant cell myocarditis: report of 3 cases / 中华病理学杂志

<p><b>OBJECTIVE</b>To identify clinical and pathological features of giant cell myocarditis.</p><p><b>METHODS</b>Clinical presentation and follow-up data of three patients with giant cell myocarditis were collected.Gross, histopathological, immunohistological and ultrastructural findings of extransplantated hearts of the patients were documented.</p><p><b>RESULTS</b>Grossly, multifocal involvement of the myocardium with variably dilated cardiac chambers were observed in all 3 cases.Histological examination revealed pronounced focal inflammatory infiltrates with multinucleated giant cells. Multinucleated giant cells were positive for CD68 and CD11b immunostains but were negative for CD163 in all cases. Transmission electron microscopy showed that the multinucleated giant cells derived from fusion of several macrophages with adherent lymphocytes and secretary cells. Clinically, the overall patient condition improved in all three cases after heart transplantation.One patient experienced acute cellular rejection (2R level) 4 months after transplantation, but recovered after treatment. One patient developed multinucleated giant cells observed in heart biopsy two weeks after transplantation.</p><p><b>CONCLUSIONS</b>Giant-cell myocarditis is a rare disease of adult, and cardiac transplantation could improve the clinical outcome. Multinucleated giant cell in the myocarditis lesions were derived from macrophages, likely participating in the immune response. Endomyocardial biopsy is important for the diagnosis of giant cell myocarditis.</p>

Association between clinical features and histopathological findings in patients with left ventricular non-compaction cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the association between clinical and histopathological features in patients with left ventricular non-compaction cardiomyopathy (LVNC).</p><p><b>METHODS</b>Histopathological examinations were made on 11 LVNC recipient hearts from June 2004 to June 2014 in Fuwai Hospital, myocardial ultrastructure changes were detected using transmission electron microscopy. Association between clinical and pathological features were analyzed.</p><p><b>RESULTS</b>Patients were (24 ± 11) years old. There were 6 patients with mucus matrix LVNC, 3 patients with fibrous fatty infiltration, and 2 patients with cardiomyocytes proliferation. The gross morphological changes of LVNC hearts were characterized by numerous and prominent trabeculations with deep intratrabecular recesses in left ventricular myocardium. Ratios of the thicker noncompacted endocardial layer (N) and thin epicardial compacted layer (C) (N/C ratio) were ≥ 2.0, and the most serious lesions were located in the left ventricular apex, and followed by the left ventricular free wall. Histological microscopic examinations evidenced numerous matrix-like material and immature cardiomyocytes on endocardial tissue. Transmission electron microscopy revealed mitochondrial abnormalities on morphology, number, and distribution, underdeveloped cardiomyocytes and anomalies of intercalated disc structure, increased deposition of extracellular matrix-like substance and perinuclear glycogen. Pathological changes on cytoplasmic matrix and intercalated disc were present in all three tissue types of LVNC in this cohort and mitochondria hyperplasia was detected in patients with fibrous fatty infiltration. Heart weight ≥ 350 g is often associated with increased number of mitochondria. Increased cytoplasmic matrix was often detected in patients with LVEF ≥ 30% while intercalated disc anomalies were often detected in patients with LVEF < 30%.</p><p><b>CONCLUSION</b>Histological changes were closely related clinical features in patients with LVNC.</p>

Predictive value of HLA-DRB1 gene for the treatment of unexplained recurrent spontaneous abortion with paternal lymphocyte alloimmunization therapy in Henan Hans / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the value of HLA-DRB1 gene in predicting the outcome of unexplained recurrent spontaneous abortion (URSA) treated with paternal lymphocyte alloimmunization therapy (PLAT) in Henan Hans.</p><p><b>METHODS</b>Three hundred URSA patients were recruited. Following PLAT treatment, they were divided into two groups according to the outcome of pregnancy. Polymerase chain reaction sequence specific primer (PCR-SSP) were conducted to analyze the HLA-DRB1 gene.</p><p><b>RESULTS</b>For those who have received PLAT treatment, the frequency of HLA-DRB1*11 was significantly lower in successfully treated cases than those with abortion (0.052 vs. 0.110, P < 0.05, OR=0448), whilst the frequency of HLA-DRB1*15 was significantly greater in the former (0.207 vs. 0.100, P < 0.05, OR=2.352).</p><p><b>CONCLUSION</b>For patients who have received PLAT treatment, those with HLA-DRB1*15 are more likely to conceive that those with HLA-DRB1*11.</p>

Myocardial changes in heart transplantation recipients with primary restrictive cardiomyopathy / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the histopathological features of primary restrictive cardiomyopathy (PRCM).</p><p><b>METHODS</b>Nine extransplanted hearts from heart transplantation recipients were examined. Gross and histopathological findings were observed, photographed and final pathological diagnosis was compared to clinical diagnosis. The myocardial ultrastructure changes were determined using transmission electron microscopy.</p><p><b>RESULTS</b>The hallmark pathologic feature of PRCM was distinguished by myocardial cell degeneration and hyperplastic collagen fibrils around the myocardial cells.Fibrosis was severer in left ventricle free wall than in ventricular septum and right ventricle. The degree of myocardial cell degeneration and poloidal disorder were severer in patients with reduced ejection fraction (EF) than in patients with preserved EF. Transmission electron microscope evidenced severe interstitial fibrosis, myofibrillar changes of sarcomere structure, abnormalities both on intercalated disc number and distribution.</p><p><b>CONCLUSIONS</b>PRCM is characterized by hyperplastic collagen fibrils around the cardiomyocytes. Fibrosis is severer in left ventricle than in right ventricle. Sarcomere dysplasia is the main cause of PRCM, and ultrastructural examination is helpful for PRCM diagnosis.</p>