Objective:To explore the clinical characteristics and genetic etiology of a child with Spondyloocular syndrome (SOS) in order to enhance the awareness and understanding of this disease.Methods:A 3.5-year-old boy with SOS who had presented at the Department of Medical Genetics of Hunan Children′s Hospital on August 10, 2023 due to the repeated fractures for over 2 years and after binocular cataract surgery was selected as the study subject. Clinical data of his pedigree were collected, and peripheral venous blood samples were collected for the extraction of genomic DNA and subjected to trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing and analyzed with bioinformatic software. This study was approved by the Medical Ethics Committee of Hunan Children′s Hospital (No. KYSQ2022-263).Results:The child had manifested repeated fractures, bilateral bowed femur, osteoporosis, cataract, atrial septal defect, and developmental delay. Ultrasonography has revealed fetal edema, peritoneal effusion, pleural effusion and polyhydramnios. Trio-whole exome sequencing and Sanger sequencing revealed that he has harbored compound heterozygous variants of the XYLT2 gene, namely c. 1103_1104delAG (p.Gln368Argfs*8) and c. 1238_1253delinsA (p.Val413_Pro418delinsGlu), which were inherited from his phenotypically normal father and mother, respectively. Neither variant was reported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and recommendations from the Clinical Genome Resource (ClinGen), the c. 1103_1104delAG was predicted as a pathogenic variant (PVS1+ PM2_Supporting+ PP4), whilst the c.1238_1253delinsA was predicted as a likely pathogenic variant (PM4+ PM3+ PM2_Supporting+ PP4). Conclusion:The c. 1103_1104delAG and c. 1238_1253delinsA compound heterozygous variants of the XYLT2 gene probably underlay the pathogenesis in this child. Above finding has enriched the phenotypic and mutational spectrum of SOS, and provided a basis for the clinical diagnosis, treatment, prognosis assessment and genetic counseling for this pedigree.

A 13-year and 6-month-old girl attended the Hunan Children's Hospital due to delayed menarche. The laboratory test results indicated increased follicle-stimulating hormone and luteinizing hormone, decreased anti-Mullerian hormone, and pelvic ultrasound showed a cord-like uterus and absence of bilateral ovaries. Her 11-year and 5-month-old younger sister had the same laboratory and imaging findings, and both girls were diagnosed with primary ovarian insufficiency. Whole exome sequencing and Sanger sequencing confirmed that the proband and her sister carried heterozygous variants of HROB gene c.718C>T (p.Arg240*) and c.1351C>T (p.Arg451*), which were inherited from their parents respectively and consistent with autosomal recessive inheritance. Oral estradiol valerate at an initial dose of 0.125 mg/d was given to the proband, and the secondary sexual characteristics began to develop after 6 months.
Humans ; Female ; Child ; Infant ; Primary Ovarian Insufficiency/genetics* ; Luteinizing Hormone ; Estradiol

Objective:To investigate the current Kangaroo Mother Care(KMC) knowledge among registered nurses working in neonatal intensive care unit (NICU) in China.Methods:A convenience sample of 607 registered nurses participated in this descriptive, cross sectional exploratory study. An online self-designed questionnaire was used to collect the data, including 12 items, 3 sections (Basic knowledge, Emergency handling, Breast feeding).Results:The total score was 6.52±2.29 (the total score was 12). The 5 items, accuracy below 50%, were ①In your opinion, the optimal duration of KMC was (10.2%,62/607); ②What to do if the baby had respiratory arrest or became blue during KMC (18.8%,114/607); ③Who should implement KMC (42.5%, 258/607); ④what could we do if the baby was not gaining weight (47.3%, 287/607); ⑤How to feed the baby during KMC (47.8%, 290/607). Registered nurses with more than 10 years of working experience in NICU scored higher; junior registered nurses scored lower; registered nurses learned by individuals scored lower ( F values were 9.413, 9.862, 5.368, all P<0.01). Conclusions:The insufficiency of KMC knowledge is common among NICU registered nurses. The understanding of basic concepts of KMC should be strengthened. Stratified training should be conducted for nurses′ ability to deal with emergencies, assess the changes in infants' conditions, and knowledge of breast feeding. All registered nurses′ KMC operation should be standardized to improve the level of implementation of KMC by NICU registered nurses.

Objective:Shizukuishi scoring method was used to compare the diagnostic value of parotid gland and submandibular gland scintigraphy for Sj?gren's syndrome (SS).Methods:Parotid gland and submandibular gland scintigraphy were conducted in 124 SS patients and 91 control subjects respectively, the results of scintigraphy of each gland were evaluated by excretion rate and 0-3 points per gland, the diagnostic accuracy of parotid and submandibular gland scintigraphy was compared by receiver operating characteristic curve (ROC).Results:The score of parotid scintigraphy was 0-6, with the cut-off value of 2, the sensitivity for diagnosis of SS was 76.9%, the specificity was 72.6%, the area under the curve (AUC) was (0.798±0.030). The score of submandibular scintigraphy was 0-6, with the cut-off value of 2. The sensitivity for diagnosis of SS was 78.0%, the specificity was 78.2%, the area of AUC was 0.854±0.026.Conclusion:The diagno-stic value of the submandibular gland scintigraphy is good.

OBJECTIVETo explore action mechanism of electroacupuncture (EA) on treatment of Parkinson's disease (PD).

METHODSA total of 40 healthy male SD rats were randomly divided into a normal group, a sham operation group, a model group and an EA group, 10 rats in each group. PD rat model was duplicated by micro injection of 6-hydroxyl dopamine into right striatum of rats, and the rats in the sham operation group were treated with micro injection of 0. 9% NaCl. Rats in the normal group, model group and the sham operation group received no treatment; rats in the EA group were treated by EA at "Fengfu" (GV 16) and "Taichong" (LR 3) with continuous wave, 2 Hz in frequency, 1 mA in intensity for 30 min. The treatment was given once a day for total 2 weeks. Behavioral test was used to evaluate rotational behavior changes of PD rats. RT-PCR method was applied to detect the expression of GFAP (glial fiber acidic protein) mRNA and Cx43 (connexin 43) mRNA in the striatum.

RESULTSThe difference of rotational behavior was not significant before and after treatment in the model group (P>0. 05), while that in the EA group was significant (P<0. 01). The expression of GFAP mRNA and Cx43 mRNA in the model group was significantly higher than that in the normal group and sham operation group (all P<0. 01); after EA treatment, the expression of GFAP mRNA and Cx43 mRNA in the EA group was lower significantly than that in the model group (both P<0. 01).

CONCLUSIONThe action mechanism of EA for prevention and treatment of Parkinson' s disease may be associated with inhibiting the activation of astrocytes.

Acupuncture Points ; Animals ; Astrocytes ; Connexin 43 ; genetics ; metabolism ; Corpus Striatum ; metabolism ; Electroacupuncture ; Humans ; Male ; Nerve Tissue Proteins ; genetics ; metabolism ; Parkinson Disease ; genetics ; metabolism ; therapy ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo explore the effects and action mechanism of electroacupuncture (EA) on Parkinson's disease (PD).

METHODSForty-eight healthy male SD rats were randomly divided into a normal group, a sham operation group, a model group and an EA group, 12 rats in each one. Rats in the model group and EA group were treated with subcutaneous injection of rotenone (1mg/kg, dissolved in dimethyl sulfoxide and 0. 9 % normal saline) on neck and back for 40 days to establish rat model. Rats in the sham operation group were treated with injection of identical dose of dimethyl sulfoxide and 0. 9 %o normal saline at identical location which did not contain rotenone. After model establishment, rats in the EA group were treated with EA at "Fengfu" (GV 16) and "Taichong" (LR 3) with continuous wave (2 Hz, 1 mA), which was given 20 min per time, once a day for consecutive 28 days. Rats in the remaining groups were treated with fixation and immobilization without any other intervention. The rats behavioristics changes were observed and scored; immunohisto-chemistry was adopted to test the expression of tyrosine hydroxylase (TH); fluorescence spectrometry was used to detect the activities of 20 S β1, β2, β5; western blot method was applied to measure the expression of 20S proteasome and its a subunit.

RESULTSCompared with the normal group and sham operation group, there was significant change of behavioristics in the model group, and TH positive neuron counting was obviously reduced; after treatment, the behavioristics score in the EA group was lower than that in the model group (P<0. 05), and TH positive neuron counting was significantly increased (P<0. 05). Compared with the normal group and sham operation group, the activities of 20 S β1, β2, β5 in model group were significantly reduced (all P<0. 01), and those in the EA group were higher than those in the model group (P<0. 01). Compared with the normal group and sham operation group, the expression of 20S proteasome and its a subunit was reduced in the model group, and that in the EA group was higher than that in the model group (P<0. 05).

CONCLUSIONEA could improve the loss of dopaminergic neurons induced by rotenone to prevent and treat PD, which is likely to be related with protecting the activity and expression of proteasomes in substantia nigra.

Animals ; Disease Models, Animal ; Electroacupuncture ; Humans ; Male ; Parkinson Disease ; enzymology ; therapy ; Proteasome Endopeptidase Complex ; metabolism ; Rats ; Rats, Sprague-Dawley ; Substantia Nigra ; enzymology

This study was aimed to probe into the mechanism of moxibustion in the treatment of Alzheimer’s disease (AD). A total of 40 male 15-month-old SD rats were randomly divided into the normal group, model group, moxibustion group and sham-operation group. Stereotactic injection of agglutinated Aβ25-35 into rat’s bilateral hippocampus was used to prepare AD models. Equal amount of normal saline was injected to rat’s bilateral hippocampus in the sham-operation group. Model rats were treated by moxibustion at the distance of 2-3 cm above points of‘BL23-Shenshu’, ‘ST36-Zusanli’ and ‘GV20-Baihui’. No intervention was given to rats in the normal group. The learning and memory ability was detected by Morris water maze test. Changes on expressions of Bcl-2, Bax and Caspase-3 of hippocampus zone were detected by immunohistochemical method. The results showed that in the model group, the average escape latency of five days and the last three days were significantly lengthened. And the times across the platform position were significantly reduced. Compared with the normal group and the sham-operation group, expressions of Bax and Caspase-3 in the hippocampus were significantly increased, and the expression of Bcl-2 was obviously decreased (P < 0.01). In the moxibustion group, the average escape latency of five days and the last three days were shortened obviously, and the times across the platform position were significantly increased. Compared with the model group, expressions of Bax and Caspase-3 were significantly reduced, and the expression of Bcl-2 was significantly increased (P < 0.01). It was concluded that the action mechanism of AD treatment with moxibustion may be through the reducing of proapoptotic protein Bax and Caspase-3 releasing, promoting the releasing of anti-apoptotic protein Bcl-2, so as to improve the learning and memory impairment caused by Aβ.

Objective To observe the effects of moxibustion on learning and memory ability and nerve cell ultrastructure in CA1 region of hippocampus of rats with Alzheimer's disease (AD);To discuss its mechanism of action to AD.Methods A total of 40 male SD mice was randomly divided into normal group, model group, moxibustion group and sham-operation group. Stereotactic injection agglutinated Aβ25-35 into bilateral hippocampus of rats in model group and moxibustion group to prepare AD models. Rats in moxibustion group were treated by moxibustion at the points which were located above 2-3 cm away from Shenshu, Zusanli and Baihui. Rats in normal group received no treatment. The learning and memory ability was detected by Morris water maze test. Morphological changes of rat nerve cell ultra structure in hippocampal CA1 region were observed by transmission electron microscope.Results In model group, the average escape latency of five days and the last three days was significantly lengthened, and the times across the platform position significantly decreased. Transmission electron microscope indicated nerve cell structures were damaged and displayed unclearly;mitochondrion swelled, even mitochondrial crista was abnormal and deformed, endoplasmic reticulum of inter organelle expanded and the deposition of lipofuscin increased. After the treatment by moxibustion, the average escape latency of five days and the last three days was shortened obviously, and the times across the platform position significantly increased. In moxibustion group, the edema of nerve cells significantly decreased;dilation of endoplasmic reticulum and mitochondria swelling significantly improved;golgi bodies, mitochondria and ribosomes obviously increased in comparison with the model group. Conclusion Moxibustion can improve the learning and memory impairment caused by Aβ by promoting repairing of nerve cells in brain.

This study was aimed to explore the mechanism of electroacupuncture (EA) on improvement of Parkinson’s disease (PD). A total of 40 SD male rats were randomly divided into 4 groups, which were the normal group, sham-operation group, model group, and EA group (n=10). The 6-hydroxydopamine (6-OHDA) was used to prepare PD rat rotational model. The 0.2% Vitamin C of physiological saline was injected in the sham-operation group. EA on GV16-Fengfuand LR3-Taichongwas given for 30 min in the EA group after the model was successfully established, once a day, 7 days a treatment course. The treatment was given for 2 courses. Behavioral test was used to detect PD rat rotational behavior changes. Glu concentration in the striatum was detected by HPLC assay. The expression levels of GS and PAG were detected with western blot. The results showed that there were significant differences in the rotational behavior before and after treatment in the EA group (P < 0.01). Compared with the normal group and sham-operation group, Glu concentration significantly increased, GS expression obviously decreased, and PAG expression significantly increased in the model group (P < 0.01). Compared with the model group, Glu concentration obviously decreased (P < 0.05), GS expression significantly increased, and PAG significantly decreased in the EA group (P < 0.01). It was concluded that the protective effect of EA in PD may be associated with EA improving the expression of GS, reducing the expression of PAG, and relieving the cytotoxicity induced by Glu in the brain.

Objective To observe the effects of electroacupuncture (EA) on c-Jun amino terminal kinase (JNK) signaling pathway and inflammatory cytokines interferon-γ (IFN-γ) in substantia nigra (SN) cells of rotenone-induced rats model of Parkinson's disease (PD),and explore the underlying mechanism of EA on PD.Methods A total of 32 male Sprague-Dawley mice were randomly and evenly divided into a normal group,a shamoperation group,a model group and an EA group.Model group and EA group were injected intradermally with rotenone (1 mg/kg,dissolved in DMSO and saline,concentration:O.25 mg/ml) on the nape of neck.Sham-operation group was injected the same dose of DMSO and saline.Normal group had no intervention.EA group was applied to Fengfu (DU16) and Taichong (LR3) acupoints after the establishment of PD model in rats.Behavioral assessment was conducted after the treatments,the rats were sacrificed for sampling substantia nigra tissue to detect the expressions of tyrosine hydroxylase (TH),p-c-Jun amino terminal kinase (p-c-Jun) and interferon-γ(IFN-γ) protein with Western blotting (WB).Results Model rats showed significant PD syndrome characteristics,comparing with normal group and sham group,the difference was not statistically significant (P ＞ 0.05).The results of open box test showed that the scores of model group rats decreased significantly in terms of the horizontal movement [(19.12 ±2.34) points] and vertical locomotor activity [(5.27 ± 1.04) points] when compared with normal group and sham group,the difference was statistically significant (P ＜ 0.05).After EA treatment,locomotor activity of rats increased significantly when compared with model group (P ＜ 0.05),however,the normal group and sham group was not statistically and significantly different in locomotor activity (P ＞ 0.05).Compared with normal group,the expression of TH protein in (0.183 ± 0.0213) reduced significantly and the expressions of p-c-Jun (0.388 ± 0.0283) and IFN-γ protein(0.453 ± 0.0332) increased significantly in model group,the difference was statistically significant (P ＜0.05).Compared with normal group,the expression of TH protein(0.324 ± 0.0538) reduced and the expressions of p-c-Jun(0.207 ± 0.0592) and IFN-γ protein (0.239 ± 0.0215) increased in EA group,the difference was not statistically significant (P ＞ 0.05).Compared with model group,the expression of TH protein increased significantly in EA group(P ＜ 0.05),the expressions of p-c-Jun and IFN-γ protein reduced significantly in EA group(P ＜ 0.05).Conclusion EA therapy may reduce the expression of IFN-γ protein in SN of PD rats model by regulating the expression of JNK/mitogen-activated protein kinase (MAPK) pathway,which may delay the process of PD.