Objective To discuss cause and treatment measures of the postoperative failed to fully automatic nail in patients with circumcision by disposable circumcision suture device, so as to improve the quality of the circumcision.Methods 182 cases received circumcision by disposable circumcision suture device were randomly selected from September 2014 to March 2015 in the hospital and divided into control group ( n =86 ) and treatment group (n=96).All the patients received oral antibiotics for three days conventionally.Patients in control group were dressing with 0.1%iodine after treatment, dressing change every two or three days, while the treatment group soaking with 30 mL to 40 mL compound prescription cortex phellodendri chinensis fluid for 15 min two times per day.The postoperative wound anastomosis nail loss effect in two groups were compared.Results The time of complete nail loss in patients soaking with compound prescription cortex phellodendri chinensis fluid was significantly shorter than that in patients dressing with 0.1% iodine (P<0.05), but there was no significantly difference of the first time to lose nail between two groups.The rate of complete nail loss in treatment group was 94 cases (97.9%), which was significantly higher than 68 cases (79.1%) in control group (χ2 =16.47,P<0.05). The adverse reactions were mild of two groups.Conclusion The compound prescription cortex phellodendri chinensis fluid has exact effect on postoperative wound anastomosis nail loss and recovery in patients’ with circumcision by disposable circumcision suture device.

Objective:To summarize the clinical characteristics of children with interleukin-1 receptor associated kinase 4 (IRAK4) deficiency.Methods:The clinical data of a child with IRAK4 deficiency who was admitted to the Department of Neurology of Shenzhen Children′s Hospital for several times from June 2019 to August 2020 were retrospectively analyzed. Related literature up to January 2021 with the key words "IRAK4 gene variation", and "interleukin-1 receptor-associated kinase 4 deficiency" in PubMed, CNKI, Wanfang, and CQVIP databases were searched. The clinical characteristics of this disease were summarized and analyzed.Results:The boy was 6 years of age and had recurrent respiratory tract infections. He was improved after antibiotic treatment. His clinical manifestation included Streptococcus pneumoniae meningoencephalitis, multiple sclerosis, invasive discitis and inflammatory bone destruction. Family-based whole exome sequencing showed that the boy had a homozygous frameshift variation in the IRAK4 gene, NM_016123.3:C.540del (p.Phe180leufs*26), and both parents were heterozygous. A total of 23 cases were reported in ten English articles. Together with this case, there were 24 cases, including 13 males and 11 females. The age of onset was 8 days to 7 years. The main manifestations were recurrent invasive bacterial infection, including 11 cases with Streptococcus pneumoniae meningitis, 9 cases with Streptococcus pneumoniae and (or) Staphylococcus aureus septicemia, 1 case with Pseudomonas aeruginosa meningitis, 1 case of salmonella infection, and 1 case with Staphylococcus aureus skin abscess. Only 1 case had recurrent virus infection. There were 2 patients with autoimmune diseases, 1 with autoimmune encephalitis and the other one with juvenile idiopathic arthritis. Among the 24 cases, 10 died (9 in infancy). Most of the surviving children were diagnosed early and received antibiotics preventively and intravenous immunoglobulin (IVIG). Their susceptibility to infection decreased year by year, and could be close to normal children at the age of 14 years. Among the 24 cases, 21 cases had homozygous variation of IRAK4 gene and 3 cases had complex heterozygous variation. There were 15 kinds of variation, including 9 kinds of frameshift variation, 4 kinds of nonsense variation and 2 kinds of missense variation. One candidate variation hotspot was c.877 c>T (3 cases). Conclusions:IRAK4 deficiency mainly manifest as recurrent and invasive bacterial infection, with Streptococcus pneumoniae meningitis or septicemia being the most common. A few patients are complicated with autoimmune diseases. The mortality rate is high in infancy, early diagnosis and treatment can avoid severe illness or death.

Objective:To summarize the clinical phenotype of patients with developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation.Methods:The clinical data of 4 patients with epileptic encephalopathy caused by SMC1A gene truncating variation from August 2016 to June 2020 were analyzed retrospectively. Related literatures up to October 2021 with the key words "SMC1A" "Developmental and epileptic encephalopathy 85" "SMC1A, epilepsy" and "SMC1A, truncating" in PubMed, CNKI, and Wanfang databases were searched. Relevant literature was summarized and reviewed.Results:These 4 patients were all female. The onset age of seizure were all in the infantile period. They were admitted to the hospital at 3, 2, 11 and 18 months respectively. Focal seizures occurred in all 4 patients, while 1 of them experienced infantile spasm. The characteristic of cluster was observed in all of them with an interval of 14 days to 5.0 months. The seizures were all refractory to different kinds of anti-seizure medications. All 4 patients had severe developmental retardation with microcephaly (head circumference<-2 s). The interictal electroencephalogram (EEG) was characterized by diffuse slow wave. The 4 SMC1A gene variants were p.Gly655fs, p.Glu811fs, p.Arg412fs and p.Ile143fs, all of which were de novo frameshift variation after parental validation. There were another 17 cases with SMC1A gene truncating variation reported in 6 English articles and 1 Chinese article. Among these 21 patients, who were all female, the onset of seizures occurred between 0.5 and 18.0 months of age. Seventeen cases (81%) had the characteristics of cluster attacks, and the intervals of attack cycles were different. Seizure types included generalized tonic-clonic seizure (12 cases (57%)), focal seizure (11 cases(52%)), myoclonic(4 cases(19%)), spasm (4 cases(19%)), atypical absence (3 cases(14%)), tonic seizure (2 cases (10%)), and atonia (1 case(5%)). In addition, 4 cases (19%) had status epilepsy. All patients had moderate to severe mental retardation. Microcephaly was found in all patients. Among 18 cases,EEG in 8 cases had diffuse slow wave background. Brain magnetic resonance imaging (MRI) was normal in 13 cases (62%). Other MRI changes included cerebellar atrophy (3 cases), thin corpus callosum (3 cases), and lateral ventricular enlargement (2 cases). Twenty patients did not respond well to antiepileptic drugs. Conclusions:The clinical phenotypes of patients with epilepsy encephalopathy 85 caused by SMC1A gene truncating variation are characterized by female, early-onset, clustering of seizures, development delay and microcephaly. Diffuse slow waves are shown in interictal EEG in partial. Response to treatment and prognosis are poor.

OBJECTIVETo use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.

METHODSChromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.

RESULTSThe karyotype of the fetus was ascertained as 46, XY, t(5;10)(q35;p13), and the karyotypes of the parents were normal. aCGH has identified a de novo 1.68 Mb deletion at 5q35.2q35.3 and a 1.44 Mb duplication at 10p14p13.

CONCLUSIONaCGH has a higher resolution and greater accuracy for mapping chromosomal aberrations and is a useful supplement for G banding karyptyping analysis.

Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; genetics ; Comparative Genomic Hybridization ; Cri-du-Chat Syndrome ; diagnosis ; embryology ; genetics ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Karyotyping ; Male ; Prenatal Diagnosis ; Trisomy ; diagnosis ; genetics

Objective:To analyze the brain functional fluctuation of benign epilepsy in children with central-temporal spikes(BECTS) by using ReHo algorithm based on the resting-state brain functional imaging, and to explore the connection of the brain function and changes of the connection pattern, so as to find the damage of the cognitive function of BECTS children in the early stage.Method:s Perspectiveness and simple random selection of 20 BECTS children and 20 healthy control children admitted to Shenzhen Children′s Hospital from January 2015 to December 2017 were conducted for basic information collection and functional magnetic resonance imaging (fMRI) testing in a resting-state.Result:s Significantly lower ReHo value appeared in the default mode network (DMN) area, and the precuneus (voxel=422, t=-5.085 6), cuneus (voxel=85, t=-4.240 3), angular gyrus (voxel=191, t=-4.681 2), cingulate cortex (voxel=313, t=-5.238 2), anterior central gyrus (voxel=12, t=-3.482 7), and supplementary motor area (voxel=1 356, t-6.596 2). The significantly increased ReHo was found in the bilateral cerebellum (voxel=71, t=5.658 2), right superior temporal gyrus (voxel=24, t= 5.184 0), operculum insulae (voxel=337, t=6.814 9), left parietal lobe (voxel=12, t=4.378 7), and inferior parietal lobule (voxel=11, t=3.433 7). Conclusions:Significant impairment of DMN, Wernicke and angular gyrus functions in BECTS children may be one of the mechanisms of cognitive dysfunction.Enhanced sensorimotor area and cortical brain functions near the operculum insulae and central sulcus lead to seizures with typical clinical symptoms.fMRI has a high specificity and sensitivity for evaluating the brain function of children with BECTS, and it can detect the impairment of cognitive function in children with this type of epilepsy at an early stage.

Objective To investigate the clinical application value of transrectal real-time tissue elastography(TRTE)guided targeted puncture in the diagnosis of prostate cancer.Methods A total of 52 patients with suspected prostate cancer who were treated in the First People's Hospital of Zhengzhou from January 2020 to December 2022 were selected as the study objects.Preoperative routine transrectal ultrasound and TRTE examination were performed to evaluate the benign and malignant prostates.For the 28 patients with suspected lesions found in TRTE,TRTE-guided targeted puncture(2 needles)+ systematic puncture(8 needles)were performed,for the 24 patients with no suspicious lesions found in TRTE,routine ultrasound-guided systematic puncture(12 needles)was performed.The efficacy of TRTE in the diagnosis of prostate cancer was analyzed and the positive rate of targeted puncture and systematic puncture was compared.Results In this study,25 cases of prostate cancer and 27 cases of benign lesions were ultimately pathologically diagnosed,while a total of 28 cases of prostate cancer and 24 cases of benign lesions were diagnosed with TRTE.The positive predictive value and negative predictive value of the diagnosis were 75.0%(21/28)and 83.3%(20/24),respectively.In 28 patients with suspected lesions found by TRTE,a total of 56 needles were targeted puncture,36 needles were diagnosed with prostate cancer,positive rate was 64.29%(36/56),and a total of 224 needles were systematic puncture,89 needles were diagnosed with prostate cancer,with a positive rate of 39.73%(89/224).The positive rate of prostate cancer by targeted puncture was significantly higher than that by systematic puncture(P<0.05).Conclusion TRTE can better diagnose prostate cancer,and its guided targeted puncture has a higher positive rate in the diagnosis of prostate cancer,which can maximize the positive rate of puncture while reducing the number of puncture needles.

Objective: To investigate the efficacy and safety of ketogenic diet (KD) and antiepileptic drugs(AEDs) in the children with drug refractory Dravet syndrome (DS). Methods: Thirty-two cases of drug refractory DS were enrolled into the Department of Neurology, Shenzhen Children′s Hospital Affiliated to Shantou University Medical School from July 2016 to December 2017, and they were divided into 2 groups: KD group and AEDs group (16 cases for each group), respectively.KD was added to as an additional therapy for KD group, and oral AEDs were administered only in AEDs group.In KD group, oral AEDs were not adjusted for the first 3 months.AEDs could be adjusted within a limited range in 2 groups after 3 months.The clinical efficacy, improvement of cognitive function, retention rate and side effects were observed and compared after 3, 6, 12 months of treatment.The average monthly seizure frequency within 3 months before enrollment was recorded as the baseline.The clinical efficacy was assessed by comparing the seizure frequency of each observation period with the baseline. Results: In KD group, after 3, 6, 12 months′ follow-up, KD the-rapy was maintained in 15, 14, 12 patients.The number of patients whose seizure reduction over 50% was 10, 12, 11 cases, respectively.The number of patients whose seizure reduction over 90% was 7, 9, 10 cases, respectively.The number of patients who were seizure free was 3, 6, 8 cases, respectively.In AEDs group, after 3, 6, 12 months′ therapy, the number of patients whose seizure reduction over 50% was 6, 7, 8 cases, respectively, the number of patients whose seizure reduction over 90% was 3, 3, 4 cases, respectively.The number of patients who were seizure-free was 2, 1, 2 cases, respectively.There was a significant difference in the seizure reduction between 2 groups after 6, 12 months (P<0.05). Furthermore, the incidence of status epilepticus (SE) was significantly reduced in KD group, and non-fever related status epilepticus (NFSE) was preferentially improved.There was a significant difference in the incidence of SE between before and after treatment in the KD group (P<0.05). After 12 months, there was a significant difference in the incidence of SE between 2 groups (P<0.05). After 6, 12 months of treatment, the patients in KD group had significant improvements in adaption, gross motor and language quotients by Gesell Developmental Scale compared to the AEDs group (all P<0.05). Eleven of 12 children who adhered to the therapy for 1 year in KD group had improvement of developmental quotient ≥ 1 grade, however, 7 cases of 16 children in AEDs group had this improvement.The incidence of adverse effect in the KD group and the AEDs group was 37.5%(6/16 cases) and 56.3%(9/16 cases), respectively, and the difference was not significant (P>0.05). Conclusions KD can not only reduce seizure frequency and relieve SE, but also improve the cognitive function of drug refractory DS.The adverse reaction ratio of KD does not increase significantly compared to AEDs.Therefore, KD is effective and safe therapy for children with drug-resistant DS.