Objective:To summarize the clinical characteristics and genetic etiology of infants with D-bifunctional protein deficiency (DBPD).Methods:This study involved two DBPD newborns who were hospitalized in the Second Affiliated Hospital of Wenzhou Medical University in August 2020 and November 2020. Clinical data including manifestations, radiographic findings and genetic testing results were retrospectively analyzed. Relevant articles up to November 2022 were retrieved from various databases including CNKI, Wanfang, CQVIP, Online Mendelian Inheritance in Man and PubMed using the terms of "D-bifunctional protein deficiency" and " HSD17B4" in both Chinese and English. Clinical data of the cases diagnosed with DBPD by genetic testing within two years of age were collected. Clinical features and genetic etiology of the children with DBPD were summarized by descriptive statistical analysis. Results:Both neonates in this report presented with dyspnea, hypotonia, intractable epilepsy, poor response, absence of primitive reflexes, and craniofacial malformation. Whole-exome sequencing revealed that patient 1 carried heterozygous variations of c.972+1G>T and c.727T>A (p.W243R) in the HSD17B4 gene, which were inherited from his father and mother, respectively. A homozygous variation of c.1333+4A>G in the HSD17B4 gene was identified in patient 2. All these mutations were pathogenic. Thirteen papers (12 in English and one in Chinese) involving 19 patients from 16 pedigrees were retrieved. Altogether 21 patients (eight males and 13 females) were included, and among them, four from two pedigrees were born to consanguineous parents. There were 21 patients with hypotonia, 20 with epileptic seizures (17 presenting with epileptic seizures within 5 d after birth) and 12 with craniofacial deformities including high forehead, long philtrum and high palatine arches. Genetic tests showed that 13 patients carried compound heterozygous variations in the HSD17B4 gene and eight patients had homozygous variations. Twenty-six variations in the HSD17B4 gene were detected, including 16 missense mutations, seven splicing mutations, two nonsense mutations and one frameshift mutation. Conclusion:DBPD should be considered and genetic tests should be given when newborns have dystonia and intractable epilepsy complicated by appearance deformity.

Objective:To study the clinical characteristics of purulent meningitis complicated with hydrocephalus in neonates, and to analyze the risk factors of the disease.Methods:Neonates diagnosed with purulent meningitis complicated with hydrocephalus who hospitalized in the department of neonatology of the Second Affiliated Hospital of Wenzhou Medical University from January 2002 to August 2021 were selected as the case group. Neonates with positive pathogen cultures but no hydrocephalus during the same period were assigned by random number table method as the control group. The ratio of the control group and the case group was 2 ∶1. The clinical data such as bacteria distribution, cranial imaging, therapy and prognosis were compared between the two groups. The risk factors for hydrocephalus were predicted. Statistical analysis was conducted using chi-square test and multiple logistic regression analysis.Results:There were 33 cases in the case group and 66 cases in the control group. A total of 27 cases had confirmed pathogen results, of which 20 cases (74.1%) were Gram-negative bacteria and seven cases (25.9%) were Gram-positive bacteria. The time of diagnosis for hydrocephalus were 13.0(5.5, 28.5) days after the onset. Twenty-six cases received non-surgical treatment, while seven cases received surgery. The cure rate of case group was 42.4%(14/33), which was lower than that of control group (72.7%, 48/66), and the difference was statistically significant ( χ2=8.63, P=0.003). Univariate analysis showed that the incidences of protein>3 g/L in cerebrospinal fluid, glucose<2 mmol/L in cerebrospinal fluid, convulsions, central respiratory failure, intracranial hemorrhage and encephalomalacia in the case group were all higher than those in the control group, with statistical significance ( χ2=19.72, 12.04, 19.04, 5.73, 11.85 and 17.48, respectively, all P<0.050). Multivariate logistic regression analysis showed that convulsions (odds ratio ( OR)=4.476, 95% confidence interval ( CI) 1.091 to 18.363, P=0.037), intracranial hemorrhage ( OR=8.031, 95% CI 1.894 to 34.059, P=0.005) and encephalomalacia ( OR=35.189, 95% CI 2.954 to 419.150, P=0.005) were risk factors for neonatal purulent meningitis complicated with hydrocephalus. Conclusions:Gram-negative bacteria are common pathogen of neonatal purulent meningitis complicated with hydrocephalus. Convulsions, intracranial hemorrhage and encephalomalacia are important predictors for neonatal purulent meningitis complicated with hydrocephalus.

Objective:To investigate the clinical characteristics and pathogenic gene mutation of lateral meningocele syndrome(LMS).Methods:We retrospectively collected the clinical manifestations, laboratory examination, imaging examinations, and genetic analysis of a neonate with LMS which was diagnosed at the Department of Neonatology of the Second Affiliated Hospital of Wenzhou Medical University in May 2020. Relevant literature up to February 2021, retrieved from PubMed, OMIM, CNKI, Wanfang, and CQVIP database with the terms of "lateral meningocele syndrome", " NOTCH3", were reviewed to summarize the clinical characteristics, pathogenesis, and genetic etiology of this disease. Results:A full-term male newborn was admitted to our hospital due to feeding difficulty 7 d after birth. The clinical characteristics included hypotonia, dysphagia, hypertension, lateral spinal meningocele, craniofacial anomaly, and cryptorchidism. Abnormal spinal MRI and brainstem evoked potential were also observed. Whole exome sequencing revealed a heterozygous frameshift variation c.6667_6686del(p.Ala2223Profs*12) of NOTCH3 gene located in 19p13.12, which was not detected in the parents. Only 12 English literature were retrieved, with 17 patients from 15 pedigrees. Out of the 18 patients including the index case, 10 were genetically diagnosed as LMS. The age at diagnosis ranged from 15 d to 55 years. Regarding the clinical features, multiple lateral thoracolumbar spinal meningoceles (18/18) was the most common one, followed by retrognathia and low-set ears (16/18), eyelid ptosis and down slanting palpebral fissures (15/18), hypotonia (13/18), hypertension (11/18), developmental delay (9/18), mixed or conductive hearing loss (9/18), cardiovascular dysplasia (7/18), and cryptorchidism (7/10). A total of nine NOTCH3 gene variants were detected, all were heterozygous variants, including six frameshift and three nonsense variants. Conclusions:LMS is caused by NOTCH3 gene mutation with the clinical characteristics including multiple lateral thoracolumbar spinal meningoceles, craniofacial dysmorphisms, hypotonia, hypertension, developmental delay, difficulty in feeding, cryptorchidism, etc.

OBJECTIVEOur research aimed to detect the efficacy of non-surgical periodontal treatment with Nd: YAG laser and scaling and root planning (SRP) for chronic periodontitis.

METHODSWe recruited chronic periodontitis patients who have more than four teeth with clinical pocket depth of 4-8 mm. These teeth were distributed in four different zones within the oral cavity. Moreover, the teeth were single root teeth and not adjacent to each other. The subordinated teeth were randomized into four groups, as follows: no treatment (C group), simple SRP (SRP group), Nd: YAG laser after SRP treatment (SRP+L group), and SRP after Nd: YAG laser treatment (L+SRP group). The four experimental observation points were as follows: before treatment (baseline) and 1 week, 1 month, and 3 months after treatment. We measured clinical indicators and collected subgingival deposits in the four time points to analyze changes of red complex in periodontitis.

RESULTSThe clinical indicators were better in all treatment groups than in the control group. Comparison among treatment groups indicated that the value of bleeding on probing, periodontal probing depth, and clinical attachment loss showed no difference. However, the value of plaque index in SRP+L and L+SRP presented a significant reduction at 3 months after treatment. The percentages of Porphyromonas gingivalis, Tannerella forsythia, and Treponema denticola in all treatment groups decreased after clinical treatment, and differences were observed among the treatment groups at different time points.

CONCLUSIONSNon-surgical periodontal treatment with SRP and Nd: YAG laser is not more effective than SRP monotherapy. The sequence of laser treatment and SRP has no significant effect on the treatment. However, SRP with Nd: YAG laser was beneficial for plaque control. Non-surgical periodontal treatment with Nd: YAG laser may be used as an alternative to reduce and control the proliferation of microorganisms in persistent periodontitis, but it still needs further verification.

Objective:To explore the feasibility of ADSCs in the clinical treatment of traumatic femoral neck fracture.Methods: After the intervention by ADSCs,femoral neck fracture repair was observed by hematoxylin-eosin staining.The vascular endothelial growth factor expression levels at the fracture segment were quantitatively measured by immunohistochemical staining,RT-qPCR was utilized to detect the mRNA formation in callus tissue.Results: In the study group,we observed less fracture repair than in the sham surgery group but more than in the blank group.Conclusion: ADSCs administration can promote osseous tissue and osteoblast repair,thereby contributing to the healing of traumatic femoral neck fracture in rats.

Objective To evaluate the effectiveness of occlusive wrapping with plastic film in the delivery room to prevent heat loss and reduce the occurrence of hypothermia on admission to the Neonatal Intensive Care Unit (NICU) in very low birth weight infants.Methods A total of 209 very low birth weight infants (birth weight＜1 500 g and gestational age＜33 weeks),born in the Second Hospital of Wenzhou Medical University (Yuying Children's Hospital) and admitted to the NICU immediately after birth from June 1,2009 to December 1,2010,were randomized to the wrap group or non-wrap group.Infants randomized to the wrap group were dried and then wrapped with polyethylene film up to their necks immediately after delivery.They were then covered with warmed blankets and transported to the NICU by the neonatal team.The non-wrap group received routine care in the delivery room following the guidelines of the Neonatal Resuscitation Program.The t test and Chi-square test were used for statistical analysis.Results The mean rectal temperature on admission to the NICU was significantly higher in infants of wrap group compared with those of non-wrap group [(36.1 ± 0.8) ℃ vs (35.5 ± 1.0) ℃,t=4.707,P＜0.01],and the incidence of hypothermia was 41.0％ (43/105) in the wrap group which was lower than that in the non-wrap group (66.3％,69/104) (x2=13.547,P＜0.01).In infants ＜29 weeks of gestation,the mean rectal temperature on admission to the NICU was higher in the wrap group than in the non-wrap group [(36.1 ± 0.8) ℃ vs (35.4 ± 1.1) ℃,t=3.051,P＜0.01].In infants ≥ 29 weeks of gestation,the mean rectal temperature on admission to the NICU was higher in the wrap group than in the non wrap group [(36.0±0.9) ℃ vs (35.5±0.9) ℃,t=3.698,P＜0.01].The arterial blood gas base excess in the wrap group and non-wrap group was-(2.9±2.7) mmol/L and-(5.0±4.2) mmol/L,respectively (t=4.473,P＜0.01).The rate of endotracheal intubation was 20.0％ (21/105) in the wrap group and 27.9％ (29/104) in the non-wrap group,(x2=1.785,P=0.182).The duration of hospitalization was (49.2± 10.7) d in the wrap group and (45.8±9.1) d in the non-wrap group,and the difference was not statistically significant (t=1.152,P=0.251).Conclusions Wrapping very low birth weight infants with plastic film in the delivery room can reduce the occurrence of hypothermia.

Objective To observe the effects of Traditional Chinese Medicine bubble bath on the children with spastic diplegia cerebral palsy. Methods 13 children with spastic diplegia cerebral palsy received routine rehabilitation and bubble bath (control group), while 14 children received routine rehabilitation and Traditional Chinese Medicine bubble bath (experimental group). All the children were assessed with Gross Motor Function Measure (GMFM-66) and Modified Ashworth Scale (MAS) of triceps surae muscle before and 10 weeks after treatment.Results The total score of GMFM-66 increased (P<0.001) and the MAS score decreased in both groups (P<0.01) after treatment. The dimensions B, D, and E of GMFM-66 only increased in the experimental group (P<0.05). The MAS score decreased more in the experimental group than in the control group after treatment (P<0.05). Conclusion Traditional Chinese Medicine bubble bath can improve gross motor function and reduce triceps surae muscle tension of the children with spastic diplegia cerebral palsy.

Objective To investigate the correlation between Epstein-Barrvirus (EBV) and H.pylori (Hp) infection and gastric cancer. Methods The EBV infection was examined by polymerase chain reaction (PCR) and in situ hybridiza-tion (ISH) in 100 samples of gastric cancer tissue and 82 samples of gastritis tissue. The Hp infection was detected by PCR. The correlation between EBV and Hp infection and clinical and pathological features was analyzed in patients with gastric cancer. Results The positive rates of EBV and Hp were significantly higher in gastric cancer tissues than those in gastritis tissues (9.0%vs 0 and 56.0%vs 40.2%, P＜0.05). There was significantly higher infection rate in EBV in cardia gastric can-cer than that of gastric cancer (16.3%vs 2.0%,P＜0.05). There were significantly higher infection rates in EBV and Hp in poorly differentiated carcinoma than those of well-differentiated carcinoma (15.7%vs 2.0%and 66.7%vs 44.9%, P＜0.05). There were no significant differences in EBV and Hp infection between gender, age, nationality and lymph node metastasis (P>0.05). There was no significant difference in Hp infection between different parts of gastric cancer. There was no correla-tion between EBV and Hp infection in gastric cancer tissues (r=0.137, P>0.05). Conclusion EBV and Hp infection are two independent factors in the development of gastric cancer, and both of them are associated with the malignant evolution of gastric cancer.

To investigate the relationship of the variation of virulence and the external capsid proteins of the pandemic duck hepatitis A virus type 1(DHAV-1) isolates,the virulence,cross neutralization assays and the complete sequence of the virion protein 1(VP1) gene of nine virulent DHAV-1 strains,which were isolated from infected ducklings with clinical symptoms in Shandong province of China in 2007-2008,were tested.The fifth generation duck embryo allantoic liquids of the 9 isolates were tested on 12-day-old duck embryos and on 7-day-old ducklings for the median embryonal lethal doses(ELD50s) and the median lethal doses(LD50s),respectively.The results showed that the ELD5s of embryonic duck eggs of the 9 DHAV-1 isolates were between 1.9 × 106/mL to 1.44 × 107/mL,while the LD50s were 2.39 × 105/mL to 6.15 × 106/mL.Cross-neutralization tests revealed that the 9 DHAV-1 isolates were completely neutralized by the standard serum and the hyperimmune sera against the 9 DHAV-1 isolates,respectively.Compared with other virulent,moderate virulent,attenuated vaccine and mild strains,the VP1 genes of the 9 strains shared 89.8％-99.7％ similarity at the nucleotide level and 92.4％-99.6％ at amino acid level with other DHAV-1 strains.There were three hypervariable regions at the C-terminus(as 158-160,180-193 and 205-219) and other variable points in VPI protein,but which didn't cause virulence of DHAV-1 change.

Objective To investigate the characteristics of breast neoplasms on contrast-enhanced ultrasonography(CEUS) and its clinical value.Methods Two hundred and twenty-five patients with breast masses unable to be diagnosed by conventional ultrasonography were examined with CEUS.The characteristics of these masses on CEUS were analyzed and compared with the results of pathology examination.Results The typical features of breast cancers on CEUS were enlarged maximum diameter of the lesions on CEUS compared to pre-contrast ( P ＜0.05),irregular shapes,heterogeneous distribution of contrast enhancement with perfusion defect or local retention of contrast signals,tortuous,massive or penetrating vessels rapidly entering and exporting from the lesions.The sensitivity and specificity of perfusion defect for breast cancer on CEUS were 89.0％ and 91.8％,respectively; the sensitivity and specificity of local retention of contrast signals for breast cancer on CEUS were 93.4％ and 92.5％,respectively.Conclusions It is valuable for CEUS in the diagnosis and differential diagnosis of breast neoplasms clinically.