Objective:To study the clinical manifestations, genetic profiles and treatment of Kagami-Ogata syndrome (KOS).Methods:A neonate admitted to our hospital was genetically diagnosed of KOS from amniocentesis sampling. The phenotype, genotype and treatment of the neonate were analyzed. Multiple databases were searched using key words including "Kagami-Ogata syndrome", "14q32 microdeletion syndrome", "coat-hanger ribs", "paternal uniparental disomy (pUPD)(14) " from the inception of the databases to Jan. 23th 2023. The clinical features, genotype and treatment of patients from the literature were summarized.Results:The neonate in our hospital was born at 30 weeks gestational age with a birth weight of 2 035 g. Prenatal ultrasound indicated overgrowth, bilateral fetal renal pelvis dilatation (FRPD), dilatation of intestines in lower abdomen, clenched hands with overlapping fingers and polyhydramnios. After birth, the neonate showed progressively worsening respiratory distress, distinct facial features (small jaw, short neck, flat nasal bridge, upward-facing nostrils, small and malformed ears with auricular deformity and narrow external auditory canals), bell-shaped thorax, diastasis recti and abnormal posture (overlapping fingers, clenched fists), as well as feeding difficulties, recurrent fever and dependence of respiratory support. Whole exome sequencing (WES) revealed a 268.2Kb deletion (101034306_101302541) in 14q32.2 region on both the neonate and the mother and the father was otherwise normal. The prognosis was poor and the parents refused further treatment. The neonate died at one month of age after two days of palliative care. A total of 36 articles were identified in the literature review, including 78 KOS cases with complete clinical data (a total of 79 cases adding our case).The primary clinical manifestations included distinctive facial and thoracic abnormalities (79/79, 100%), polyhydramnios (71/75, 94.7%), feeding difficulties (55/63, 87.3%), abdominal wall defects (57/72, 79.2%), joint contractures (39/70, 55.7%) and dependence of respiratory support (29/56, 51.8%). Long-term follow-up revealed 86.8% (59/68) experienced physical, movement and intellectual development delay, 39.7% (25/63) died or gave up treatments within five years. Genetic testing showed pUPD in 44 cases (55.7%), maternal deletions in 23 cases (29.1%), epimutations in 8 cases (10.1%) and unreported variations in 4 cases (5.1%).Conclusions:KOS is a genetic imprinting disorder affecting multiple organs. Prenatal screening can detect abnormalities such as polyhydramnios. Specific clinical signs, radiological findings and 14q32 gene analysis are helpful for the diagnosis of the disease.

The emergent global public health issues have promoted the development and application of virtual nurse. This paper introduced the concept and the application form of virtual nurse, and provided an overview of the current state of application of virtual nurse centered on the core roles, including staff mentoring/staff education, patient education, real-time quality surveillance/patient safety surveillance, physician rounding, admission activities, and discharge activities. Moreover, it further analyzed the problems of the virtual nurse in the process of practice and application and made an outlook on its future application and development direction, aiming to provide reference and guidance for Chinese healthcare professionals to explore and practice in the field of the virtual nurse.

Objective To investigate the safety and feasibility of peripheral vascular intervention via the ipsilateral transulnar access(TUA)due to failure of transradial access(TRA)puncture.Methods The clinical data of 2546 peripheral vascular interventions via TRA,which were performed at authors'hospital between January 2019 and December 2021,were retrospectively analyzed.Among the 2546 interventions,TRA puncture failed in 37 procedures,and in 27 of these patients the ipsilateral TUA puncture had to be adopted.The puncture success rate,surgical success rate and puncture approach-related complications of TUA of the 27 patients receiving ipsilateral TUA puncture were analyzed.Results The success rate of ipsilateral TUA puncture after TRA puncture failed was 96.3％(26/27),and in one patient transfemoral access(TFA)puncture had to be substituted because of the ulnar artery spasm.The total success rate of interventional procedures was 96.3％(26/27).No serious complications occurred,and the incidence of minor complications was 19.2％(5/26).Conclusion Preliminary results indicate that for the experienced TRA operators,using ipsilateral TUA puncture due to failure of TRA puncture is a safe and feasible strategy choice.

Objective:To analyze the risk factors for premature infants with hemodynamically significant patent ductus arteriosus (hs-PDA) requiring surgical treatment, and to explore the indications for surgical treatment in premature infants with hs-PDA.Methods:A nested case-control study was conducted.The data of premature infants with gestational age<30 weeks who were diagnosed with hs-PDA in the Neonatal Intensive Care Unit of Peking Union Medical College Hospital from January 2007 to May 2020 were analyzed retrospectively.The hs-PDA patients treated surgically were included in the operation group.The hs-PDA patients of the same gestational age and gender who were not treated surgically were taken as the control group.The ratio of the case number between the operation and control groups was 1∶2.The clinical data during pregnancy, at birth and after birth of premature infants were compared between the 2 groups.The measurement data were tested by the independent sample t test or Mann- Whitney U test.The classification and enumeration data were compared by the Fisher′ s exact probability method.The risk factors for premature infants with hs-PDA requiring surgical treatment were analyzed by the conditional Logistic regression method. Results:A total of 182 premature infants with hs-PDA were enrolled in the study, including 10 in the operation group and 20 in the control group.The patients underwent PDA ligation 30.5(22.7, 37.0) d after birth, and the median preo-perative invasive ventilation duration was 9.7(17.5, 27.2) d. Compared with the control group(20 cases), the preterm infants in the operation group had a lower birth weight [(891.5±118.0) g vs.(1 054.4±230.2) g, t=2.091], a wider arterial duct diameter [3.2(2.8, 4.0) mm vs.2.0(2.0, 3.0) mm, Z=-3.300], and longer invasive ventilation duration [25.0(18.7, 38.2) d vs.3.0(1.0, 7.5) d, Z=-3.688]. Besides, the operation group applied the pulmonary surfactant for more times [2(1, 3) times vs.1(1, 2) times, Z=-2.440], and inhaled a higher concentration of oxygen on the 14 th day after birth [29(25, 36)% vs.21(21, 29)%, Z=-2.358] than the control group.Moreover, compared with the control group, the operation group took longer to achieve adequate enteral feeding [48.2(51.5, 63.5) d vs.42.5(23.5, 48.0) d, Z=2.789], and gained a higher maximum vasoactive inotropic score (VIS) [3.0(0, 3.5) points vs.0(0, 0) points, Z=-2.630]. The difference in all the above-mentioned indicators between the 2 groups was statistically significant (all P<0.05). Univariate Logistic regression analysis showed that the arterial duct diameter, application times of the pulmonary surfactant, the maximum VIS score, and the time taken to achieve sufficient enteral feeding were all related to the need for surgical treatment of hs-PDA in the operation group (all P<0.05). Multivariate Logistic regression analysis revealed that the invasive ventilation duration ( OR=0.747, 95% CI: 0.560-0.998, P=0.048) was an independent risk factor for hs-PDA premature infants requiring surgical treatment. Conclusions:The factors related to the need for surgical treatment in preterm infants with hs-PDA include a wide arterial duct diameter, multiple applications of the pulmonary surfactant, a high concentration of inhaled oxygen on the 14 th day, and the long time to achieve sufficient enteral feeding.The independent risk factor for the surgical treatment in hs-PDA children is the long invasive ventilation duration.

Objective:To investigate the efficacy of venetoclax-based combined regimen in treatment of adult patients with acute myeloid leukemia (AML).Methods:The data of 50 adult AML (non-acute promyelocytic leukemia) who received venetoclax-based combined regimen in the First Affiliated Hospital of Xiamen University, Dongguan People's Hospital, the First Hospital of Longyan City, Jieyang People's Hospital from December 2018 to May 2021 were retrospectively analyzed. Different doses venetoclax combined with demethylation drugs or low-dose chemotherapy regimen were used to analyze the therapeutic efficacy. The related factors influencing efficacy were analyzed by using logistic regression.Results:The composite complete remission (CR) rate of 50 AML patients was 62.0% (31/50), the overall response rate (ORR) was 76.0% (38/50); 28 patients achieved effectiveness [CR and partial remission (PR)] after the first cycle and could achieve effectiveness by 3 courses of treatment at the latest. Among 50 patients, 28 cases were newly diagnosed AML, the composite CR rate was 60.8% (17/28), ORR was 78.6% (22/28); 22 cases were recurrent and relapsed, the composite CR rate was 63.6% (14/22), ORR was 72.7% (16/22); and there was no statistically significant difference of ORR between the both groups ( χ2 = 0.23, P = 0.743). Logistic regression multivariate analysis showed age was the only independent influencing factor for the treatment effectiveness ( OR = 8.451, 95% CI 1.306-54.697, P = 0.025). The median duration time of patients receiving venetoclax treatment regimen was 4.5 months (1.1-15.0 months); 16 cases who had treatment effectiveness finally relapsed, the median time of maintaining effectiveness was 5 months (1.1-11.0 months). Additionally, the common treatment-related adverse reactions included bone marrow suppression after treatment, followed by some gastrointestinal reactions like nausea, vomiting and stomachache. In addition, no patient stopped medication for more than 1 week due to bone marrow suppression related complications. Conclusion:Venetoclax-based combined regimen shows a good short-term efficacy in treatment of AML. It is also effective and tolerable for elderly patients receiving reduced dose therapy.

Anaphylaxis is increasingly in children, which is currently undernotified, underdiagnosed, and undertreated in China.In order to further improved the understanding and management of anaphylaxis, this issue reviews the pathogenesis, triggers and risk factors, clinical diagnosis and management of anaphylaxis, thus offers the recommedations of anaphylaxis in Chinese children based on previous published evidence-based guidelines and practice parameters.Recommendation aims to develop guiding principles for the diagnosis and management of anaphylaxis in children, and provide a framework for the development of new guidelines.

Stroke at the acute stage is a major cause of disability in adults, and is associated with dysfunction of brain networks. However, the mechanisms underlying changes in brain connectivity in stroke are far from fully elucidated. In the present study, we investigated brain metabolism and metabolic connectivity in a rat ischemic stroke model of middle cerebral artery occlusion (MCAO) at the acute stage using F-fluorodeoxyglucose positron emission tomography. Voxel-wise analysis showed decreased metabolism mainly in the ipsilesional hemisphere, and increased metabolism mainly in the contralesional cerebellum. We used further metabolic connectivity analysis to explore the brain metabolic network in MCAO. Compared to sham controls, rats with MCAO showed most significantly reduced nodal and local efficiency in the ipsilesional striatum. In addition, the MCAO group showed decreased metabolic central connection of the ipsilesional striatum with the ipsilesional cerebellum, ipsilesional hippocampus, and bilateral hypothalamus. Taken together, the present study demonstrated abnormal metabolic connectivity in rats at the acute stage of ischemic stroke, which might provide insight into clinical research.
Acute Disease ; Animals ; Brain ; diagnostic imaging ; metabolism ; Brain Mapping ; Disease Models, Animal ; Fluorodeoxyglucose F18 ; Glucose ; metabolism ; Infarction, Middle Cerebral Artery ; diagnostic imaging ; metabolism ; Male ; Neural Pathways ; diagnostic imaging ; metabolism ; Positron-Emission Tomography ; Radiopharmaceuticals ; Random Allocation ; Rats, Sprague-Dawley

Objective To evaluate the efficacy of modified abdominal laparoscopy in the repair of complex vesical vaginal fistula after total hysterectomy.Methods The clinical data of 58 cases of urinary bladder and vagina fistula in our hospital from April 2014 to December 2017 were retrospectively analyzed,of which 32 cases were repaired by ordinary abdominal laparoscopy from April 2014 to February 2016 and 26 cases were repaired by modified abdominal laparoscopy from March 2016 to June 2017.On the basis of the original laparoscopy,the modified transabdominal laparoscopy enlarged the free range between the vaginal stump and the bladder,separated the anterior vaginal wall from the bladder completely and dissociated the retrovaginal peritoneum,wrapping around the vaginal stump to make the peritoneum.The median age of ordinary group was 52 (range:33-67)years old,the median course of disease was 12 (range:3-40) months,and the size of fistula was (25.5 ± 10.3) mm.The median age of modified group was 50 (range:37-65) years,the median course of disease was 11.5 (range:3-36) months,and the size of the fistula was (26.3 ± 9.1) mm.The operation time,bleeding volume,the time of hospitalization,the rate of complications and the success rate of the operation were compared.Results The operation time of the two groups was successfully completed.The operation time of the modified group [(164.2 ± 21.2) min] was significantly shorter than that of the common group [(201.4 ± 25.8) min],and the difference was statistically significant (P ＜ 0.01).In the modified group,the cure rate (100.0％,26/26) was higher than that in the normal group (84.4％,27/32,P ＜ 0.05).There was no significant difference in the amount of intraoperative bleeding[50 (10-100) ml vs.55 (5-110) ml],hospitalization time [(9.1 ± 1.7) d vs.(10.0 ± 1.8) d],postoperative infection [19.2％ (5/26) vs.15.6％ (5/32)],urinary incontinence [7.7％ (2/26) vs.9.4％ (3/32)],urinary frequency [15.4％ (4/26) vs.21.9％ (7/32)],intestinal obstruction [3.8％ (1/26) vs.9.4％ (3/32)] between the modified group and common group (P ＞ 0.05).Conclusions The modified transabdominal laparoscopic mode shortens the operation time,and improves the cure rate of the operation.Satisfactory results are recommended for the repair of high complex bladder vagina fistula.

Objective: To evaluate the feasibility and safety of applying enhanced recovery after surgery (ERAS) protocol in patients undergoing laparoscopic distal pancreatectomy. Methods: Data of 36 patients undergoing laparoscopic distal pancreatectomy from May 2016 to May 2017 in the First Affiliated Hospital, Zhejiang University School of Medicine were reviewed. The patients were divided into ERAS group (n=12) and control group (n=24). The patients in ERAS group received a series of enhanced recovery procedures, including multimodal analgesia, early off-bed activity and early oral food-taking, etc. Operation time, intraoperative blood loss, time to first flatus, postoperative complications, and length of postoperative hospital stay were evaluated. Results: There were no statistically significant differences in operation time and intraoperative blood loss between ERAS group and control group (all P0.05). The time to first flatus and length of postoperative hospital stay were significantly shortened in ERAS group (all P<0.05). The ERAS group had lower incidence of postoperative complications (41.7% vs. 66.7%), and the complications in ERAS group tended to be milder, but the differences failed to show statistical significance (all P0.05). Conclusion: The ERAS protocol for laparoscopic distal pancreatectomy can significantly promote gastrointestinal function recovery and shorten postoperative hospital stay, and may reduce the incidence of postoperative complications.
Case-Control Studies ; Humans ; Laparoscopy ; standards ; Length of Stay ; Pancreatectomy ; instrumentation ; methods ; Postoperative Complications ; prevention & control ; Postoperative Period ; Retrospective Studies

Objective Non-traumatic and posteromedial subchondral osteonecrosis of trochlea tali (NTPSOTT) is a special type of necrosis of the talus , for which early diagnosis and treatment are particularly important .This study investigated the clinical ef-fectiveness of autogeneic cancellous bone transplantation in the treatment of NTPSOTT . Methods We retrospectively analyzed 21 cases of NTPSOTT treated by autogeneic cancellous bone transplantation and evaluated using the Clinical Rating System of the American Orthopedic Foot and Ankle Society ( AOFAS) , Visual Analogue Scale ( VAS) , and X-ray and CT examinations . Results The pa-tients were followed up for 12-26 months and all healed desirably , with the graft well integrated into the surrounding tissue , but no as-similation, collapse of the articular surface , or narrowing of the joint space .The last follow-up visit revealed significantly improved AOFAS score (90.55 ±6.73 vs 50.87 ±11.42, P=0.009) and VAS score (1.32 ±0.81 vs 6.43 ±1.66, P=0.027) as compared with the baseline . Conclusion Autogeneic cancellous bone transplantation is preferable for the treatment of NTPSOTT , which can effectively reduce the pain in the ankle , maintain the joint space , and protect the function of the ankle .