Objective To investigate the disease spectrum and pathogenic genes of inherited metabolic disorder(IMD)among neonates in Gansu Province of China.Methods A retrospective analysis was conducted on the tandem mass spectrometry data of 286 682 neonates who received IMD screening in Gansu Provincial Maternal and Child Health Hospital from January 2018 to December 2021.A genetic analysis was conducted on the neonates with positive results in tandem mass spectrometry during primary screening and reexamination.Results A total of 23 types of IMD caused by 28 pathogenic genes were found in the 286 682 neonates,and the overall prevalence rate of IMD was 0.63‰(1/1 593),among which phenylketonuria showed the highest prevalence rate of 0.32‰(1/3 083),followed by methylmalonic acidemia(0.11‰,1/8 959)and tetrahydrobiopterin deficiency(0.06‰,1/15 927).In this study,166 variants were identified in the 28 pathogenic genes,with 13 novel variants found in 9 genes.According to American College of Medical Genetics and Genomics guidelines,5 novel variants were classified as pathogenic variants,7 were classified as likely pathogenic variants,and 1 was classified as the variant of uncertain significance.Conclusions This study enriches the database of pathogenic gene variants for IMD and provides basic data for establishing an accurate screening and diagnosis system for IMD in this region.

Objective:To investigate the techniques of digit-tip replantation with anastomosis of superior digital arch artery in children and to evaluate the clinical effects.Methods:From January 2020 to September 2022, 62 children (62 digits) with completely severed digit-tips were admitted to the Department of Paediatric Orthopaedics, Suzhou Ruihua Orthopaedic Hospital. All the injury planes were distal to the nail root. All arterial dissections were distal to the digital arterial arch with the vessel calibre from 0.15 mm to 0.35 mm. The superior arch arteries of the digital arterial arch were successfully anastomosed. After surgery, a significant blood flux to the replanted digit body were observed. Postoperative necroses or failures were analysed for the causes. All children with survived digit-tips were entered into scheduled follow-ups through a combination of visit of outpatient clinics or via WeChat and telephone reviews. Postoperative follow-up included digit body fullness, motion of distal interphalangeal joint, nail growth, scarring, and response of the replanted digit-tips to needling. Clinical outcomes were evaluated according to the evaluation criteria for finger replantation function.Results:Of the 62 replanted digit-tips, 56 survived after replantation. Two digits had wound infection after surgery, and survived by dressing change and applying sensitive antibiotics. Necrosis occurred in 6 replanted digit-tips, of which 2 necrotic digit bodies were amputated, and the stumps at the distal interphalangeal joint were repaired. The other 4 necrotic digits were healed after dressing change under the scab due to a smaller digit body. A total of 52 children (including 2 survivals from postoperative infection after dressing changes and 4 survivals with healing underneath-eschar after necrosis) and with 10 lost during follow-up (including 2 with stump repairs after necrosis). The follow-up period ranged from 2 to 30 months, with an average of 6 months. The shape and function of replanted digit-tips recovered well. According to the evaluation criteria for finger replantation function, 44 digits were of excellent, 6 of good, and 2 of fair.Conclusion:In children, the superior arch arteries of digital arterial arches of the digit-tips are small in diameter. However, the vessels in smaller calibres can be anastomosed, should proper surgical techniques are applied. Therefore, due to the satisfactory outcomes, microsurgeons should try the best efforts to replant a digit severed at the plane of digit-tip.

Objective To investigate the effects of antenatal corticosteroid(ACS)therapy in pregnant women on the brain development of preterm infants using amplitude-integrated electroencephalography(aEEG).Methods A retrospective analysis was conducted on 211 preterm infants with a gestational age of 28 to 34+6 weeks.The infants were divided into an ACS group(131 cases)and a control group(80 cases)based on whether antenatal dexamethasone was given for promoting fetal lung maturity.The first aEEG monitoring(referred to as aEEG1)was performed within 24 hours after birth,and the second aEEG monitoring(referred to as aEEG2)was performed between 5 to 7 days after birth.The aEEG results were compared between the two groups.Results In preterm infants with a gestational age of 28 to 31+6 weeks,the ACS group showed a more mature periodic pattern and higher lower amplitude boundary in aEEG1 compared to the control group(P＜0.05).In preterm infants with a gestational age of 32 to 33+6 weeks and 34 to 34+6 weeks,the ACS group showed a higher proportion of continuous patterns,more mature periodic patterns and higher Burdjalov scores in aEEG1(P＜0.05).And the ACS group exhibited a higher proportion of continuous patterns,more mature periodic patterns,higher lower amplitude boundaries,narrower bandwidths,and higher Burdjalov scores in aEEG2(P＜0.05).Conclusions ACS-treated preterm infants have more mature aEEG patterns compared to those not treated with ACS,suggesting a beneficial effect of ACS on the brain development of preterm infants.[Chinese Journal of Contemporary Pediatrics,2024,26(3):244-249]

Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75％(27/36);boys accounted for 64％(23/36).Among the 36 neonates,31(86％)had disease onset within 3 days after birth,and 19(53％)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61％)had left cerebral infarction and 13(36％)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75％)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72％)and seizures in 10 neonates(34％).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33％,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44％(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.

Objective To explore the current application of high-throughput drug sensitivity(HDS)testing in children with relapsed and refractory acute leukemia(RR-AL)and analyze the feasibility of salvage treatment plans.Methods A retrospective collection of clinical data from children with RR-AL who underwent HDS testing at the Department of Children's Hematology and Oncology of the First Affiliated Hospital of Zhengzhou University from November 2021 to October 2023 was conducted,followed by an analysis of drug sensitivity results and treatment outcomes.Results A total of 17 children with RR-AL underwent HDS testing,including 7 cases of relapsed refractory acute myeloid leukemia and 10 cases of relapsed refractory acute lymphoblastic leukemia.The detection rate of highly sensitive chemotherapy drugs/regimens was 53%(9/17),while the detection rate of moderately sensitive chemotherapy drugs/regimens was 100%(17/17).Among the 17 RR-AL patients with highly and moderately sensitive chemotherapy drugs and regimens,the MOACD regimen(mitoxantrone+vincristine+cytarabine+cyclophosphamide+dexamethasone)accounted for 100%,with the highest inhibition rate for single-agent mitoxantrone(94%,16/17),and the highest inhibition rate for targeted therapy being bortezomib(94%,16/17).Nine patients adjusted their chemotherapy based on HDS testing results,with 4 undergoing hematopoietic stem cell transplantation.Four patients achieved disease-free survival,while 5 died.Eight patients received empirical chemotherapy,with 2 undergoing hematopoietic stem cell transplantation;4 achieved disease-free survival,while 4 died.Conclusions HDS testing can identify highly sensitive drugs/regimens for children with RR-AL,improving the rate of re-remission and creating conditions for subsequent hematopoietic stem cell transplantation.

Objective To observe the clinical efficacy of meridian massage in the treatment of cervical spondylotic radicu-lopathy.Methods Sixty-four patients with cervical radiculopathy treated from March 2020 to June 2023 were divided into the observation group and the treatment group,with 32 cases in each group.The observation group received conventional treat-ment,including 14 males and 18 females with an average age of(41.34±7.23)years old ranging from 32 to 55 years old;the disease duration ranged from 9 to 17 months with an average of(14.23±3.56)months;C5 and C6 nerve root compression oc-curred in 12 cases,C7 nerve root compression occurred in 17 cases,C8 nerve root compression occurred in 3 cases.The treat-ment group received massage therapy on the basis of conventional treatment,including 17 males and 15 females with an aver-age age of(40.86±6.97)years old ranging from 30 to 54 years old;the disease duration ranged from 8 to 18 months with an av-erage of(15.43±3.48)months;C5 and C6 nerve root compression occurred in 14 cases,C7 nerve root compression occurred in 16 cases,C8 nerve root compression occurred in 2 cases.The clinical efficacy was evaluated by visual analogue scale(VAS),neck disability index(NDI)and clinical assessment scale for cervical spondylosis(CASCS)before and after 2-week treatment,and the range of motion of cervical spine was compared before and after treatment.Results After 2-week treatment,the VAS and NDI scores of the treatment group and the observation group decreased,while the CASCS scores increased(P＜0.001).Af-ter 2-week treatment,the VAS and NDI scores were lower and the CASCS scores were higher in the treatment group than those of the observation group(P＜0.001).Comparing with those before treatment,the range of motion of flexion,extension,left flex-ion,right flexion,left rotation and right rotation after 2-week treatment increased in two groups(P＜0.05).Comparing with the observation group,the range of motion of flexion,extension,left flexion,right flexion,left rotation and right rotation increased more significantly in the treatment group(P＜0.05).Conclusion Meridian massage is effective in the treatment of cervical Spondylotic radiculopathy,which can effectively relieve neck pain,improve clinical symptoms and improve patient satisfaction.

Objective To observe the clinical efficacy of meridian massage in the treatment of lumbar disc herniation(LDH).Methods Between July 2020 and April 2023,82 patients with lumbar disc herniation were selected,including 58 males and 24 females,aged from 23 to 55 years old with an average of(43.76±6.64)years old.According to the different treatment methods,they were divided into observation group and control group with 41 cases in each group.The control group was treated with routine treatment,and the observation group was treated with meridian massage on the basis of routine treatment.In the control group,there were 30 males and 11 females;aged from 22 to 52 years old with an average of(42.27±9.34)years old;the Body mass index(BMI)ranged from 19 to 28 kg·m-2 with an average of(23.82±1.08)kg·m-2;the course of disease ranged from 0.5 to 3.0 years(2.40±0.48)years.There were 28 cases in L4,5 segment and 13 cases in L5S1 segment.In the observation group,there were 28 males and 13 females;the age ranged from 19 to 54 years old(42.19±9.26)years old;the BMI ranged from 18 to 29 kg·m-2 with an average of(23.73±1.15)kg·m-2;the course of disease ranged from 0.6 to 2.8 with an average of(2.56±0.45)years;there were 26 cases in L4,5 segment and 15 cases in L5S1 segment.Visual analogue scale(VAS),Oswestry disability index(ODI),M-JOA score and TCM syndrome score were measured before and after 3 courses of treatment,and the clinical efficacy was evaluated by the standard of curative effect evaluation.Results After treatment,VAS[(3.24±1.45)vs(4.46±0.64)],ODI[(11.45±1.98)％vs(17.21±2.74)％]and TCM symptom score[(2.03±0.27)vs(3.99±0.54)]of the observation group were lower than those of the control group.The score of M-JOA[(23.43±2.61)vs(19.37±1.62)]increased(P＜0.05).The scores of VAS,ODI andTCM symptoms in the observation group were lower than those in the control group,while the scores of M-JOA were higher than those in the control group(P＜0.05).Conclusion Meridian massage is effective in the treatment of LDH,which can effectivelyrelieve low back pain,improve clinical symptoms and increaselumbar function,which is worthy of clinical promotion.

Objective To explore the application value of low-flow rate and-contrast injection scheme for pulmonary artery computed tomography angiography(CTA)in the elderly patients.Methods Sixty elderly patients undergoing pulmonary artery CTA in some hospital from April 2020 to January 2023 were selected and divided into a control group(30 cases)and an experimental group(30 cases)according to the contrast agent injection schemes.A conventional contrast injection scheme was used for the control group,and an optimized contrast injection scheme with low flow rate and low contrast dose was designed for the experimental group.The two gorups were observed and subjectively scored in terms of the degree of pulmonary artery enhancement,the display of pulmonary artery trunks and branches and the sharpness of image vessel edges,and objectively evaluated for the degree of contrast sclerosis artifacts in the superior vena cava and the enhancement CT values of the pulmonary artery trunks and the left and the right pulmonary veins.The extravasation of the contrast agent was recorded for the patients in the 2 groups.SPSS 25.0 software was used for statistical analysis.Results The two groups had no significant differences in score pulmonary artery CTA image quality(P＞0.05);the experimental group had the socre of contrast sclerosis artifacts in the superior vena cava statistically lower than that of the control group(P＜0.05).The two groups had no obvious differences in the CT values of the pulmonary artery trunks and the left and the right pulmonary veins(P＞0.05).There were no patients with the extravasation of the contrast agent found in the experimental group,while there one case with severe extravasation and 4 cases with mild or moderate extravasation in the control group.Conclusion Low-flow rate and-contrast injection scheme for pulmonary artery CTA of the elderly patients contributes to avoiding contrast agent extrava-sation while ensuring image quality,enhancing patient experience and safety.[Chinese Medical Equipment Journal,2024,45(10):66-70]

Objective:To explore the application value and treatment effects of multiple free anterolateral perforator flaps of calf for reconstruction of multiple digital wounds in single hand.Methods:From August 2020 to March 2022, 12 patients with soft tissue defects in 35 digits were treated in Department of Hand Surgery, Suzhou Ruihua Orthopaedic Hospital. Ten patients were male and 2 were female, aged 25 to 58 years old. Of the patients, 1 had soft tissue defects in 5 digits, 3 in 4 digits, 2 in 3 digits and 6 in 2 digits. The size of defects was from 1.2 cm ×1.2 cm to 7.0 cm×3.5 cm after debridement. The vascular perforators discovered from intraoperative explorations were found originating from the superficial peroneal artery in 24 flaps, from the peroneal artery in 7 flaps and from the anterior tibial artery in 4 flaps. During surgery, the perforator artery and accompanying veins of the flaps were anastomosed with the proper digital artery and palmar or dorsal subcutaneous veins in the recipient site, respectively. The size of the flaps was from 1.5 cm×1.5 cm to 7.5 cm×4.0 cm. No nerve was affected in the surgery. The wound at donor sites in the calf was sutured directly. Regular postoperative follow-ups were conducted at outpatient clinics. The comprehensive evaluation scale of flap was used to assess the conditions of the donor and recipient sites.Results:In this study, all 35 soft tissue defects of digits in 12 patients were reconstructed by the anterolateral perforator flaps of calf. All the 35 flaps survived after surgery, with a 100% of survival rate. The patients were instructed to carry out early functional training after surgery. Follow-up lasted 6 to 24 months, with an average of 11 months. Twenty-five flaps were found in slightly swollen, and further flap thinning surgery were carried out 3 months after the primary surgery, while the rest of the flaps had good appearance and texture. At 6 months after surgery, all flaps recovered a partial deep and shallow sensory and sense of touch. All wound at donor sites in calf had one-stage healing without dysfunction. The comprehensive evaluation scale was excellent in 28 flaps and good in 7 flaps. The excellent and good rate was 100%.Conclusion:It is an effective method to use multiple free anterolateral perforator flaps of calf to reconstruct multiple digit defects in single hand. The flaps can be conveniently harvested and the multiple digital defects in single hand can be reconstructed in primary surgery with small damages to the donor sites and together with satisfactory clinical outcomes.

Vascular anastomosis is one of the most basic techniques of microsurgery, and the quality of anastomosis largely determines the success of the surgery. With the continuous development of microsurgical techniques, more and more new technologies have been used in vascular anastomosis, but hand suturing is still the "gold standard" method for microvascular anastomosis. This article summarized the advantages and disadvantages as well as application of traditional microvascular suturing techniques and improved techniques and their methods at home and abroad, aiming to provide reference for clinical application of microvascular suturing techniques.