Objective:To summarize the clinical characteristics and pathogenic mutation of gene NUDT2 in the child with intellectual disability with or without peripheral neuropathy (IDDPN). Methods:The clinical characteristics and development of one child attending the Department of Rehabilitation of Tianjin Children's Hospital were evaluated retrospectively,and the relationship between the clinical phenotype and gene mutation profile of NUDT2 was analyzed. Results:The child had global developmental delay, special appearance, low muscle tone of the limbs, accompanied by peripheral nerve damage in the limbs, and whole exome sequencing found that the child carried a homozygous mutation of NUDT2 gene, c.34C>T (p.R12X), which was a nonsense mutation. Sanger verified that both parents were carriers of c.34C>T heterozygous mutations. In the inclusion of 10 registered IDDPN patients, it was found that all of them were homozygous mutations, and the clinical phenotypes all had different degrees of cognitive impairment and movement disorders, among which only 3 cases were complicated by peripheral nerve damage. Conclusions:The child in this case had low birth weight/length, weak sucking ability in infancy, cognitive impairment, peripheral nerve damage, and genetic testing showed homozygous nonsense mutation of NUDT2 gene, which provided evidence support for the clinical understanding of the disease.

The leucine-rich repeat (LRR) containing 15 (LRRC15) protein is one of the members of the LRR superfamily. In the medical field, LRRC15 protein not only participates in parasitic, viral and other pathogen infections, but also plays a role in anti-tumor and rheumatoid arthritis treatment. It also regulates cell autophagy, stem cell ossification, and changes in hair follicle dermal papilla cell characteristics. This article reviews the research progress of LRRC15 protein in the medical field.

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS). METHODS: A child who presented at Tianjin Children's Hospital on June 13, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing. RESULTS: WES revealed that the child has harbored two frameshifting variants of the LARP7 gene, namely c.429_430delAG (p.Arg143Serfs*17) and c.1056_1057delCT (p.Leu353Glufs*7), which were verified by Sanger sequencing to be respectively inherited from his father and mother. CONCLUSION The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.
Female ; Humans ; Dwarfism/genetics* ; Exome Sequencing ; Intellectual Disability/genetics* ; Microcephaly ; Mothers ; Mutation ; Male ; Child

The clinical data of 4 patients in a pedigree of charcot-marie-tooth disease type 2cc (CMT2cc) caused by the NEFH gene mutation from the Department of Rehabilitation, Tianjin Children′s Hospital in March 2020 were reviewed and analyzed retrospectively.The purpose of this study was to improve clinicians′ awareness of the di-sease.The pedigree had signs and symptoms of varying degrees of pyramidal fasciculus involvement, high arched feet, and achilles tendon contracture.The electrophysiological testing of both lower extremities suggested sensory and motor nerve axonal damage, and an abnormal visual evoked potential was observed.Second-generation sequencing revealed that the pathogenic factor was the NEFH gene variation: c.1319G>A (p.Ser440Asn), which is a new mutation site that has never been reported before. NEFH mutations can cause a complex clinical phenotype of CMT2cc, which is therefore easily misdiagnosed.Central and peripheral nerves are simultaneously involved in CMT2cc patients.Electrophysiological testing and genetic analysis are required to clarify the diagnosis of CMT2cc.

Objective: To determine the effects of ginsenoside rg3 on the body weight of C57BL/6J obese mice and to investigate its underlying weight loss mechanisms with a focus on white fat browning-related factors. Methods: Eight-week-old C57BL/6J male mice were fed a high-fat diet for 12 successive weeks to construct the obese model. C57BL/6J male mice were fed a standard chow diet to construct normal control group. After 8 weeks of intervention with ginsenoside rg3, the food intake, body weight, body fat mass, blood sugar, and lipid profiles of the mice in each group were detected. Hematoxylin and eosin (HE) staining was used to observe the histological morphology of the adipose tissues. Real-time poly-merase chain reaction (RT-PCR) and Western blotting (WB) were applied to detect the gene and protein expression levels of peroxisome proliferators-activated receptor gama (PPARγ), Peroxisome proliferator-activated receptor-gamma coactivator -1alpha (PGC-1α), PR domain containing 16 (PRDM16), and uncoupling protein 1 (UCP-1).Results: Compared to normal control group mice, the body weight, food intake, body fat composition, and blood lipid levels of model group mice increased significantly. After 8 weeks of intervention with ginsenoside rg3, body weight, body fat composition, food intake, and blood lipid profiles decreased. HE staining showed that ginsenoside rg3 can improve white adipocyte hypertrophy to a certain extent. RT-PCR and WB demonstrated that ginsenoside rg3 can increase the mRNA and protein expression levels of PPARγ, PGC-1α, PRDM16, and UCP-1 in the adipose tissues of obese mice. Conclusion: The weight reduction effect of ginsenoside rg3 may be related to the promotion of white fat browning.

Objective To systematically analyze and assess the overall value of transrectal shear wave elastograpy in diagnosis of prostate cancer (PCa) using Meta-analysis.Methods Relevant Chinese and foreign papers diagnosing PCa with transrectal shear wave elastograpy published before December 2016 were searched.The references were evaluated and screened according to the criteria of diagnostic research.The selected references were analyzed by Meta-Disc 1.4 and Stata 12.0 statistical software.Results Eight articles were included in the present Meta-analysis.Five of these literatures were about transrectal shear wave elastograpy in diagnosis of PCa,the summarized sensitivity (SEN) and summarized specificity (SPE) in diagnosis of PCa were 0.80 (95％CI [0.75,0.84]) and 0.75 (95％CI [0.71,0.79]),respectively;the positive likelihood ratios (PLR) and negative likelihood ratios (NLR) were 3.60 (95 ％ CI [2.57,5.05]) and 0.17 (95 ％ CI[0.08,0.37]),respectively;the area under SROC curves was 0.895.Five of these literatures were about transrectal shear wave elastograpy supplemental prostatic biopsy in diagnosis of PCa,the summarized SEN and SPE were 0.86 (95％ CI [0.83,0.88]) and 0.84 (95％CI [0.82,0.85]) respectively;the PLR and NLR were 5.81 (95％CI [3.07,10.99]) and 0.14 (95％CI [0.04,0.49]) respectively;the area under SROC curves were 0.924.Conclusion Transrectal shear wave elastograpy has better clinical value in detection of PCa and can be used to supplemental prostatic biopsy.

BACKGROUND:A variety of cytokines such as cytokines, growth factors and inflammatory proteins play an important role in the development of skeletal muscle.
OBJECTIVE:To investigate the biological characteristics of a variety of cytokines and their effects on skeletal muscle cel s and pancreaticβcel s.
METHODS:Relevant articles published from 2002 to 2015 were retrieved in CNKI and PubMed databases using the English keywords“cytokines, adiponectin, leptin, visfatin, skeletal muscle cel s, pancreaticβcel s”. Initial y 253 literatures were obtained, and final y 53 eligible literatures were included based on the exclusion criteria.
RESULTS AND CONCLUSION:As a fat-specific protein newly found, adiponectin can improve the insulin sensitivity by promoting glucose uptake, storage and utilization in skeletal muscle cel s. The activation of muscle satel ite cel s and skeletal myoblast proliferation are both dependent on leptin, so leptin plays a vital role in the skeletal muscle cel growth and development. Visfatin, a pleiotropic cytokine, widely presents in the skeletal muscle, liver and bone marrow, and participates in the regulation of inflammation and immune function. Furthermore, visfatin contributes to glucose uptake and metabolism in the skeletal muscle, and makes considerable effects on the stress and signal transduction of skeletal muscle cel s.

Objective To investigate the shape and hemodynamic characteristics of the ruptured posterior communicating artery minimal aneurysms. Methods The clinical data of 42 patients with ruptured posterior communicating artery minimal aneurysm (the maximum diameter < 3 mm,11 ruptured aneurysms and 31 unruptured aneurysms)were collected retrospectively. Three-dimensional DSA shapes of the aneurysms were assessed,and the hemodynamic parameters of the aneurysms were calculated according to their computer simulation models. Results (1)The multiple aneurysms were more common in the unruptured group than those in the ruptured group (58. 1% [18/ 31]vs. 9. 1% [1/ 11]). There was significant difference,P = 0. 006 ). (2 )The complex flow pattern was more common in the ruptured group (63. 6%[7 / 11]vs. 6. 5% [2 / 31],P < 0. 01)and also the changed flow pattern (45. 5% [5 / 11]vs. 3. 2% [1 / 31),P = 0. 003). (3)The median aneurysm wall shear stress of the ruptured group was 0. 74 (0. 52,0. 86)and that of the unruptured group was 1. 03(0. 83,3. 64). There was significant difference between the 2 groups (P =0. 008). Conclusion The unruptured minimal aneurysms are common in patients with multiple aneurysms. Active surgical intervention is recommended for the posterior communicating artery minimal aneurysms with low wall shear stress,complex and change flow.

Objective To assess the left ventricular(LV) regional myocardial systolic function after bone marrow mesenchymal stem cells (BMSCs) injection in rabbits with acute myocardial infarction(AMI) by 2-dimensional ultrasound speckle-tracking imaging.Methods Twenty-four healthy rabbits were randomly divided into three groups:group of sham-operated,group of masculine control (AMI was induced by ligation of left anterior descending coronary artery),and group of cell infusion(after two weeks of AMI,bone marrow mesenchymal stem cells were injected to the region of AMI).Four weeks after cell deliver two-dimensional strain images were acquired from LV short-axis view(at the levels of mitral annulus,muscle papillary and apex),radial strain rate (SrR),circumference strain rate (SrC),rotation rate (RotR) and rotation (Rot) of three levels in short-axis views were measured by speckle-tracking imaging.The conventional echocardiography indices included LV diameter of end diastole(LVEDd),LV ejection fraction(LVEF),LV fractional shortening(LVFS).The catheter indices included LV systolic pressure(LVSP),LV end diastolic pressure (LVEDP)and maximum rate of rise and descend of LV pressure(LVdp/dtmax).ResultsCompared with sham-operated group,rabbits had significantly larger LVEDd,lower LVEF and LVFS,lower LVSP and LVdp/dtmax,higher LVEDP in control group,SrR,SrC,RotR and Rot of LV anterior regional myocardial function and global myocardial function of three levels in short-axis views were lower.Compared with control group,the rabbits had significantly smaller LVEDd,larger LVEF and LVFS,larger LVSP and LVdp/dtmax,lower LVEDP,SrR,SrC,RotR and Rot of LV anterior regional myocardial function and global myocardial function of three levels in short-axis views were larger in group of cell infusion.There was no significant between group of cell infusion and group of sham-operated.Conclusions Speckle tracking imaging can evaluate the regional myocardial systolic function of the area of BMSCs transplantation accurately.

Objective To evaluate left atrial appendage regional function and movement changes of systolic and diastolic in patients with atrial fibrillation by speckle tracking imaging(STI) and real-time three-dimensional transesophageal echocardiography(RT-3D TEE).Methods Sixty-seven patients underwent RT-3D TEE was divided into 24 controls,22 paroxysmal atrial fibrillation,21 persistent atrial fibrillation.Left atrial appendage was divided into basal,middle and apical segment.Left atrial appendage emptying fraction of the overall (LAA-EF),basal emptying fraction (B-EF),middle emptying fraction (M-EF) and apical emptying fraction (A-EF) was measured by three-dimensional volume measurement.Each segment systolic strain rate (SRS) and diastolic strain rate (SRD) was measured by STI.Results LAA-EF,B-EF,M-EF,A-EF of paroxysmal atrial fibrillation and persistent atrial fibrillation group were lower than those of the control group,and persistent atrial fibrillation group was the lowest in the three groups.Compared with the control group,SRS and SRD of left atrial appendage basal,middle,apical segment was lower in paroxysmal atrial fibrillation group and persistent atrial fibrillation group,and persistent atrial fibrillation group decreased more significantly.Conclusions Paroxysmal atrial fibrillation and persistent atrial fibrillation can lead to left atrial appendage global or local systolic and diastolic function to reduce,and persistent atrial fibrillation decreased more significantly.