Bidirectional relationship between nonalcoholic fatty liver disease and sarcopenia： New insights and perspectives / 临床肝胆病杂志

‍Nonalcoholic fatty liver disease （NAFLD） is a group of highly heterogeneous diseases closely associated with metabolic dysfunction. Sarcopenia is a syndrome caused by a continuous decline in muscle mass， strength， and function， and it is often accompanied by NAFLD. Insulin resistance is the main pathological mechanism for sarcopenia and NAFLD， and in addition， factors such as changes in proteins and branched‍-‍chain amino acid， hyperammonemia， intestinal flora， and endocrine dysfunction can also lead to sarcopenia and NAFLD. With the deepening of clinical research， many published prospective studies have confirmed the existence of a bidirectional and complex pathophysiological relationship between sarcopenia and NAFLD. This article reviews the bidirectional relationship between sarcopenia and NAFLD， discusses the common pathogenesis of sarcopenia and NAFLD， summarizes the challenges faced in this field， and proposes new directions for the research on the bidirectional relationship between NAFLD and sarcopenia.

Recompensation of liver cirrhosis： Current status and challenges / 临床肝胆病杂志

‍Traditionally， the progression from compensated liver cirrhosis to decompensated liver cirrhosis has been considered an irreversible point in the natural history of the disease； however， with the suppression of underlying etiology， cure， and disease regression， this view is challenged by an increasing number of new evidence， and the idea of “recompensation of liver cirrhosis” is gradually being accepted. In recent years， scholars in China and globally have been exploring the specific definition of recompensation of liver cirrhosis and the clinical features of patients. By summarizing the recent studies on recompensation of liver cirrhosis in China and globally， integrating existing views， and analyzing related research evidence， this article points out the main challenges in the field of recompensation at this stage， including the lack of in－depth clinical and basic research， the need to define recompensation in the context of NAFLD， and related ethical issues， in order to provide new directions for future research in this field.

Expression of serum inflammatory cytokines in patients with thyroid tumor and their correlation with thyroid hormones / 中华内分泌外科杂志

Objective:To explore the expression of serum inflammatory factors in patients with thyroid tumor and their correlation with thyroid hormones.Methods:A total of 92 patients with thyroid tumors (48 cases of thyroid cancer and 44 cases of thyroid adenoma) admitted to Department of Endocrinology in Linyi Central Hospital in Shandong Province from Jan. 2020 to Oct. 2021 were enrolled. 50 healthy volunteers who received physical examination in the hospital during the same period were enrolled in the control group. The serum inflammatory factors [tumor necrosis factor-α (TNF-α) , interleukin-6 (IL-6) , interleukin-17 (IL-17) ] and thyroid hormone expression levels [thyroid stimulating hormone (TSH) , free thyroxin T4 (FT4) , free triiodothyronine (FT3) ] of the three groups were detected. Analysis of variance was used for multi-group comparison, independent sample t test was performed for comparison between groups, Spearman correlation analysis and Logistic regression analysis were made for the risk factors of thyroid cancer. The expression of serum inflammation and thyroid hormones in patients with different stages of thyroid cancer was observed. Results:Serum TNF-α, IL-17, IL-6 from high to low were in the thyroid cancer group (74.61±7.94 ng/L, 68.65±7.05 ng/L, 20.52±2.84 ng/L) , thyroid adenoma group (26.97±3.42 ng/L, 46.31±5.31 ng/L, 13.61±1.58 ng/L) , control group (18.82±2.63 ng/L, 34.52±4.02 ng/L, 8.97±1.06 ng/L) ( F=1596.271, 468.602, 423.351, all P<0.001) ; Serum TSH levels from high to low were in the thyroid cancer group (8.64±1.34 mU/L) , the thyroid adenoma group (5.21±1.02 mU/L) , the control group (3.94±0.85 mU/L) ( F=242.182, P=0.000) . There was no significant difference in serum FT4 or FT3 levels among the three groups ( P=0.753, 0.634) . Correlation analysis indicated that serum TNF-α, IL-17, and IL-6 were positively correlated with the expression level of serum TSH ( r=0.936, 0.726, 759, all P<0.05) . The expression level of TNF- α, IL-17, IL-6 and TSH was significantly higher in patients of stage III and IV than that in patients of stage I and II ( t=2.541, 4.394, 6.390, 4.962, P=0.015, P<0.001, P<0.001, P<0.001) . Multivariate Logistic regression analysis suggested serum TNF-α, IL-17, IL-6 and TSH were all risk factors for thyroid cancer. Conclusions:Serum inflammatory factors and some thyroid hormones (TSH) are generally highly expressed in patients with thyroid tumors, the expression levels of serum inflammatory factors are correlated with the expression of TSH. There are statistically significant differences in the expression levels of serum inflammatory factors and TSH between patients with thyroid cancer of different stages, serum inflammatory factors and TSH are also involved in the occurrence and development of thyroid cancer, and are risk factors for thyroid cancer.

Genetic testing and prenatal diagnosis of two pedigrees affected with Huntington disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for two Chinese pedigrees affected with Huntington disease and provide prenatal diagnosis for them.@*METHODS@#Peripheral venous blood samples were collected from the probands. PCR and capillary gel electrophoresis were used to determine the number of CAG repeats in their IT15 gene. Pre-symptomatic testing was offered to their children and relatives, and prenatal diagnosis was provided to three pregnant women from the two pedigrees.@*RESULTS@#The two probands, in addition with three asymptomatic members, were found to have a (CAG)n repeat number greater than 40. Upon prenatal diagnosis, the numbers of CAG repeats in two fetuses from pedigree 1 were determined as (16, 19) and (18, 19), both were within the normal range. A fetus from pedigree 2 was found to have a CAG repeat number of (15, 41), which exceeded the normal range.@*CONCLUSION@#Genetic testing can facilitate the diagnosis of Huntington disease and avoid further birth of affected children.

Characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province / 中华医学遗传学杂志

OBJECTIVE@#To explore the characteristics of PAH gene variants among 113 phenylketonuria patients from Henan Province.@*METHODS@#The 13 exons of the PAH gene were subjected to PCR amplification and direct sequencing. Large fragment deletion and duplication of the PAH gene were detected with a multiple ligation-dependent probe amplification (MLPA) assay.@*RESULTS@#In total 195 point variants and 3 large fragment deletions were detected among the 226 alleles, with the detection rates being 86.28% and 1.33%, respectively. Variants of p.Arg243Gln (18.14%), p.Arg111X (6.19%), p.Arg53His (5.31%), EX6-96A>G (5.31%), p.Tyr356X (4.87%) and p.Val399Val (4.42%) were relatively common. Most of the variants were located in exons 7, 11, 3 and 6. Missense variations were most common. Four novel variations were detected, which included c.1016C>A (p.Ser339Tyr), c.1000T>C (p.Cys334Arg), c.1110G>T (p.Glu370Asp), and IVS6+1G>T.@*CONCLUSION@#The PAH gene variations in Henan Province have featured extensive allelic heterogeneity and variety.

Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy / 中华医学遗传学杂志

OBJECTIVE To analyze mutation of POMT1 gene in a Chinese family affected with congenital muscular dystrophy (CMD). METHODS Peripheral blood samples of the family including one affected and two unaffected individuals, in addition with chorionic villous sample from the fetus, were collected. PCR was used to amplify exons 19 and 20 of the POMT1 gene, and the products were sequenced directly. Based on the result of genetic testing, prenatal diagnosis of the fetus was attained. RESULTS The proband was found to carry a heterozygous missense mutation c.1939G>A (p.Ala647Thr) in exon 19 of the POMT1 gene inherited from the mother and a heterozygous frameshift mutation c.2141delG (p.Trp714Ter) in exon 20 inherited from the father. Prenatal diagnosis revealed that the fetus has carried the c.1939G>A (p.Ala647Thr) missense mutation. With the disease causing mutation, the fetus was predicted to have similar phenotype as its mother. CONCLUSION The compound heterozygous mutations of c.1939G>A (p.Ala647Thr) and c.2141delG (p.Trp714Ter) probably underlie the CMD in this family. Based on the result, prenatal diagnosis may be provided.

Detection and prenatal diagnosis of TOR1A gene mutation in a Chinese family affected with dystonia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the feasibility of using PCR-based capillary electrophoresis method to analysis mutation of the TOR1A gene in a family affected with primary torsion dystonia (PTD).</p><p><b>METHODS</b>Peripheral blood sample was collected from proband and amnionic fluid from her fetus for the extraction of DNA. The 5th exon of the TOR1A gene and its flanking sequences were amplified with PCR and analyzed with agarose electrophoresis, fluorescence labeled fragment analysis and Sanger sequencing.</p><p><b>RESULTS</b>Fluorescence labeled fragment analysis was performed through capillary electrophoresis, which showed that the proband carried a c.907_909delGAG (p.Glu303del) deletional mutation of the TOR1A gene. The result was verified by Sanger sequencing. The fetus DNA was also found with the same mutation by capillary electrophoresis, inferring that the fetus was probably affected with the disease.</p><p><b>CONCLUSION</b>The mutation of c.907_909delGAG of the TOR1A gene was speculated as pathologic cause of proband in this family. Fragment analysis by capillary electrophoresis combined with DNA sequencing is an efficient test for small deletional mutations and feasible for its prenatal diagnosis.</p>