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Objective:To analyze the clinical and genetic features of the children with 5p15.1-5p15.33 duplication at the end of the short arm of chromosome 5 (5p).Methods:Clinical data of a 5p15.1-5p15.33 duplicative patient diagnosed in the Department of Pediatric Intensive Care Unit of West China Second University Hospital of Sichuan University in July 2021 were collected, and the characteristics of the patients of 5p duplication syndrome reported in the literatures were summarized and analyzed.Results:The boy was 1 year and 5 months old at the time of admission. The main clinical manifestations included growth restriction and developmental delay after birth, accompanied by craniofacial deformities. At 7 months old, he was diagnosed as epilepsy due to convulsive limbs. At present, he is 2 years old, still has recurrent convulsions, can not raise his head, sit alone, crawl and talk, with hypotonia. Repeated cranial magnetic resonance imaging showed agenesis of the corpus callosum. The child′s parents had normal phenotypes. His copy number variation sequencing results showed partial overlap of chromosome 5p15.1-5p15.33 (chr5:1934522-18905656), which was determined as pathogenic copy number variation according to copy number variations evaluation criteria, and no abnormality was detected in his parents. According to the retrieval strategy set in this study, 10 literatures (all in English, reporting 17 cases) were retrieved, and a total of 22 5p duplication syndrome patients (including this case and 4 cases included in databases) were included. Seventeen of the 22 patients were younger than 14 years old with a onset age of 7 (0, 18) years, and the male to female ratio was about 1.1∶1. Among the 22 patients, craniofacial malformation was found in 19 patients, developmental disorder in 18, bone/muscle dysplasia in 15, autism in 11, attention deficit hyperactivity disorder in 9, mental retardation in 8, obesity in 5, epilepsy in 5, congenital heart dysplasia in 2, hypotonia in 4, strabismus/hyperopia in 2, and corpus callosum dysplasia, endocrine dysfunction, inguinal hernia as well as umbilical hernia in 1, respectively. There were 19 cases of multiple malformation and 3 cases of single malformation.Conclusions:5p15.1-5p15.33 duplication may be the genetic cause of this child. Facial malformation, developmental delay, skeletal/muscular dysplasia, intellectual disability, autism spectrum disorder and attention deficit hyperactivity disorder are the main clinical phenotypes of 5p copy number duplication. Corpus callosum dysplasia may be an extended phenotype of chromosome duplication at this location.
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Objective:To investigate the association between serum thyroid level and prognosis of critically ill children with euthyroid sick syndrome(ESS).Methods:The clinical data and serum thyroid hormone levels of 176 children with ESS who were admitted to the Department of Pediatric Intensive Care Medicine at West China Second Hospital of Sichuan University from January 2015 to April 2021 were retrospectively collected.According to the prognosis, the children were divided into improved group and invalid group, as well as basic disease group and non basic disease group, and the differences of thyroid hormone between two groups were compared.The pediatric risk of mortality Ⅲ(PRISMⅢ) scores within 24 hours of admission were assessed, and the correlation between thyroid hormone level and PRISMⅢ score was analyzed.Results:Among 176 critically ill children with ESS, the most common diseases were sepsis(31.8%), severe pneumonia (23.8%) and heart failure(10.7%), respectively.The levels of free T3(FT3), T3, free T4(FT4) and T4 in invalid group were significantly lower than those in improved group ( P<0.05), but there was no statistical difference in thyroid-stimulating hormone(TSH) level between two groups( P>0.05). The levels of FT3, T3, FT4 and T4 were negatively correlated with PRISMⅢ score( r=-0.419, -0.459, -0.341, -0.383, respectively, P<0.05), and there was no correlation between TSH level and PRISMⅢ score ( P>0.05). The common underlying diseases of severe children with ESS were malnutrition(31/98), heart disease(30/98), hematologic neoplasms(15/98), and bronchopulmonary dysplasia(10/98). The median age of children in basic disease group was younger than that in non-basic disease group(0.7 years old vs. 2.0 years old, P<0.05); The proportion of children with underlying diseases in invalid group was 24.5%, which was significantly higher than that of children without underlying diseases (6.4%), and the difference was statistically significant ( P<0.05); There were no significant differences in the levels of FT3, T3, FT4, T4 and TSH between two groups ( P>0.05). Conclusion:In critically ill children, a variety of diseases can lead to ESS, and sepsis is the most common disease.Young children with underlying diseases should be more alert to ESS.The more severe the disease, the greater the decline of FT3, T3, FT4 and T4 levels.When low T3, T4 and TSH occur simultaneously, the prognosis of the children may be worse.Thyroid hormone level could be used as an indicator to evaluate the prognosis of critically ill children, which is needed further studies to explore.
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Acute cor pulmonale, usually secondary to pulmonary hypertension induced from severe pulmonary diseases or pulmonary circulation disorders, is characterized by acute right heart dysfunction and right heart failure.Hypoxemia, hypercapnia and positive pressure ventilation can all lead to pulmonary hypertension.During the treatment of critically ill children, especially in the process of respiratory support, acute cor pulmonale should be identified as soon as possible to consider the implementation of "lung protection" and "circulation protection" with monitoring of right heart function and protection as the core.
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OBJECTIVE@#To explore the genetic basis for a child featuring idiopathic epilepsy and autism.@*METHODS@#Peripheral blood samples of the child and his parents were collected with informed consent for the extraction of genome DNA. Whole exome sequencing was carried out for the family trio. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The proband was found to harbor a heterozygous nonsense c.3025C>T (p.Arg1009Ter) variant in exon 7 of the CASR gene exon 7, which may produce a truncated protein. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be deleterious and classified as possibly pathogenic (PVS1+PM2).@*CONCLUSION@#The c.3025C>T (p.Arg1009Ter) variant of the CASR gene probably underlay the disease in this child.
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Child , Humans , Autistic Disorder , Epilepsy/genetics , Exons , Heterozygote , Receptors, Calcium-Sensing/genetics , Exome SequencingABSTRACT
Unreasonable usage of antibiotics has become a prominent problem in clinic, which directly leads to the emergence of multidrug resistant bacteria infection, thus significantly increasing the difficulty of clinical anti-infection treatment.Relevant researches show that the infection range of multidrug resistant bacteria continues increasing, and its resistance gradually deepens, especially in children.Because of the distribution of multidrug resistant bacteria in dynamic changes, and the types and drug resistance of multidrug resistant bacteria that infect children are different from those in adults, leading to clinical treatment more difficult in pediatric.Therefore, the status analysis of multidrug resistant bacteria infections in Chinese children can promote the standardized use of antibiotics, therefore delaying or reducing the invasion of children by multidrug resistant bacteria.
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Objective To summarize the clinical characteristics of children with Kawasaki disease (KD) in pediatric intensive care unit(PICU). Methods Medical record of children with KD at PICU were collected. At the same time,29 cases of KD in PICU were 1∶3 matched by age,gender and the time admitted in hospital with those admitted in general pediatric department(control group). Results PICU patients had longer length of hospital stay,longer fever duration compared with control group. In addition,patients in PICU had higher neutrophil percentage,C reaction protein,creatinine,urea nitrogen,N￣terminal natriuretic peptide and procalcitonin,but lower hemoglobin,blood platelet and albumin compared with the control group. What′s more,patients in PICU tended to find hemoglobin<100 g/L,platelet<150×109/L,albumin<30 g/L,abnor￣mal in urine routine and echocardiographic and more likely to have fever longer than 10 days when used intra￣venous immunoglobulin(IVIG) compared with control group. And PICU patients were more likely to require therapy with antibiotics,albumin,glucocorticoid and the second dose of IVIG. Some part of children in PICU group were treated with IVIG and glucocorticoid because of doubted severe infection before KD diagnosed,all patients in the control group used IVIG after the diagnosis. Conclusion Patients who admitted in PICU are severe and not typical in clinical manifestation. These patients are easily misdiagnosed as sepsis and more likely to be IVIG￣refractory and have coronary artery damage. We still worry that somebody might be misdi￣agnosed as sepsis,who are treated with IVIG and get better. Because they are not diagnosed as KD,these pa￣tient would not followe up like KD,but have potential risk of cardiovascular disease and need more alarming.
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Sepsis is an uncontrolled host's response to infection and leads to life-threatening organ dysfunction. Traditional prognostic indicators for short-term mortality, such as intensive care unit (ICU) mortality, hospital mortality, cannot reveal the real and final outcome of sepsis patients. Sepsis patients remain high mortality even several years after hospital discharge, at the same time the quality of life, and the cognitive function were also damaged at varying degrees. Nowadays, studies about long-term quality of life for sepsis were still sparse and further study was still needed. This article aims to explore the epidemiology, short-term and long-term outcome so that it can provide some reference for assessment and intervention of long-term outcome of sepsis.
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Objective To investigate the effect of FOCUS-PDCA program on pressure ulcers nursing quality management. Methods By using the 9 steps of FOCUS-PDCA program of exploring, organizing, clarifying, understanding, selecting, planning, enforcing, checking and executing, we looked into the primarily factors for pressure ulcers and modified and improved our pressure ulcer nursing management system. Then training was done to the nurses, and the pressure ulcer management system was used. The effects in implementation of pressure ulcers prevention, mastery of pressure ulcers prevention knowledge among nurses and occurrence of pressure ulcers in the high-risk patients were studied after applying the program. Results After use of FOCUS-PDCA program, the qualification rate of pressure ulcers prevention implementation and mastery of pressure ulcers prevention knowledge were both higher than before the use. The occurrence rate of pressure ulcers in the high-risk patients was lower than before the use (P<0.05). Conclusion By using the FOCUS-PDCA program in the nursing quality management for patients with pressure ulcers, we can effectively improve the implementation of pressure ulcers preventive measures, enhance the nursing staff to master knowledge on pressure ulcers and reduce the incidence of pressure ulcers.
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Objective To investigate the clinical manifestations and pathogenic characteristics of nosocomial bacterial infection in children with infectious mononucleosis (IM).Methods A retrospective analysis was performed for IM children from January to December 2015 in West China Second University Hospital.According to whether there was the process of secondary bacterial infection,the patients were divided into the secondary infection group and the non-infection group.The clinical manifestations and pathogenic bacteria were analyzed.Results Two hundred and sixteen children with IM were enrolled,of whom,177 cases (81.9％) were in the non-infection group,and 39 cases (18.1％) were in the secondary infection group.The patients in non-infection group were (4.7 ± 3.2) years old,and the patients in secondary infection group were (7.0 ± 3.8) years old,and the difference was statistically significant (t =3.066,P ＜ 0.05).The secondary infection group included bacterial tonsillitis in 17 cases,bronchial pneumonia in 11 cases,otitis media in 5 cases,cervical bacterial lymphadenitis in 3 cases,periorbital cellulitis in 2 cases,and sepsis in 1 case.Meanwhile,3 cases of concomitant thrush were observed in the secondary infection group.The rate of nosocomial bacterial infection in IM children [18.1％ (39/216 cases)] was significantly higher than the incidence of nosocomial infection [1.53％ (644/41 992 cases)] in the same period,and the difference was statistically significant (x2 =368.474,P ＜ 0.01).The patients with secondary bacterial infection were treated with antibiotics,and the pathogenic bacteria were mainly gram-negative bacteria,which was consistent with pharyngeal tonsil colonization bacteria on admission.In 212 cases (98.1％) with IM,variant lymphocytes increased,and there was no significant difference between 2 groups in the variation of lymphocyte composition (x2 =2.087,P ＞ 0.05).C-reactive protein (CRP) level of IM children on admission was (11.3 ± 17.4) mg/L,while the secondary infection group was (10.2 ±9.7) mg/L and the non-infection group was (11.5 ± 18.1) mg/L,and there was no significant difference between the 2 groups (t =1.309,P ＞ 0.05).CD3 +,CD4+,CD8 + lymphocytes in the secondary infection group were 0.877 6 ± 0.031 8,0.079 0 ± 0.032 5 and 0.682 1 ± 0.053 5,compared with the non-infection group,while CD3 + lymphocytes (t =12.652,P ＜ 0.01) and CD8 + lymphocytes (t =-9.723,P ＜ 0.01) increased significantly,but the proportion of CD4+ lymphocytes decreased significantly (t =18.341,P ＜0.01).Conclusions The IM children are susceptible to nosocomial bacterial infection,which is more obvious in school-age children.Secondary respiratory tract infections are the most common type,and pathogenic bacteria may be caused by the dissemination of colonization bacteria in the pharyngeal tonsils.The CRP and variant lymphocytes on admission could not be used as the marker for predicting noscoomial bacterial infection in IM.
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<p><b>OBJECTIVE</b>To observe the impacts of electroacupuncture (EA) on microgliacytes and astrocytes of cervical spinal cord in rats with thyroid incisional pain and explore the mechanism of acupuncture anesthesia in thyroid surgery.</p><p><b>METHODS</b>Sixty Wistar male rats were randomized into a normal group, a model group, a Futu (LI 18) group, a Hegu (LI 4)-Neiguan (PC 6) group and a Zusanli (ST 36)-Yanglingquan (GB 34) group, 12 rats in each one. Except the normal group, a longitudinal incision, about 1.5 cm in length was done along the neck midline in the rats of the rest groups to prepare the model of thyroid incisional pain. In the Futu (LI 18) group, the Hegu (LI 4)-Neiguan (PC 6) group and the Zusanli (ST 36)-Yanglingquan (GB 34) group, after modeling for 4 h, 24 h and 48 h, EA was applied to bilateral "Futu" (LI 18), "Hegu" (LI 4) "Neiguan" (PC 6) and"Zusanli" (ST 36) "Yanglingquan" (GB 34) separately, once a day, continuously for 3 days. In the normal group and the model group, no any intervention was applied. The thermal radiant apparatus was used to detect the thermal pain threshold (PT). The fluorescence quantitative RT-PCR and the Western blotting (WB) were used to determine the expressions of protein and gene of microglia activation markers Iba1 and CD11b and the astrocyte specific protein marker, glial fibrillary acid protein (GFAP) in cervical spinal cord (Cto C) after intervention in the rats of each group.</p><p><b>RESULTS</b>After intervention, as compared with the normal group, in the model group, the neck PT was reduced apparently (<0.05), the expressions of Iba1 and CD11b and GFAP mRNA as well as the protein expressions in the spinal cord of Cto Cwere up-regulated apparently (<0.05,<0.01). As compared with the model group, in the Futu (LI 18) and the Hegu (LI 4)-Neiguan (PC 6) group, PT was increased significantly (both<0.05) and that did not change apparently in the Zusanli (ST 36)-Yanglingquan (GB 34) group (>0.05). In the Futu (LI 18) group, the protein and gene expressions of Iba1, CD11b and GFAP were lower than those in the model group (all<0.05). In the Hegu (LI 4)-Neiguan (PC 6) group, the expressions of Iba1 mRNA, CD11b protein, GFAP mRNA and protein were all lower apparently than those in the model group (all<0.05). In the Zusanli (ST 36)-Yanglingquan (GB 34) group, the expressions of Iba1, CD11b and GFAP proteins were not different significantly as compared with the model group (all>0.05). In the Zusanli (ST 36)-Yanglingquan (GB 34) group, the expressions of Iba1 mRNA and CD11b mRNA and protein expressions in the spinal cord of Cto Cwere higher apparently than those in the Futu (LI 18) group (<0.01,<0.05); the expressions of Iba1 mRNA and CD11b protein expressions were higher than those in the Hegu (LI 4)-Neiguan (PC 6) group (all<0.05); GFAP mRNA and protein expressions were higher apparently than those in the Futu (LI 18) group and the Hegu (LI 4)-Neiguan (PC 6) group (all<0.05).</p><p><b>CONCLUSIONS</b>EA at "Futu" (LI 18) or "Hegu" (LI 4), "Neiguan" (PC 6) relieves the acute neck incisional pain in the rats and its effect may be closely relevant with the down-regulation of the activities of microgliacytes and astrocytes in the spinal cords.</p>
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<p><b>OBJECTIVE</b>To investigate the characteristics of haemodynamically significant patent ductus arteriosus (hsPDA), and the indications of percutaneous transcatheter PDA occlusion.</p><p><b>METHOD</b>The data of a preterm infant admitted to West China Second Hospital in December. 2013, who finally underwent percutaneous transcatheter PDA occlusion were analyzed With the key words of"preterm"patent ductus arteriosus"transcatheter", Pubmed were searched and potentially relevant reports were retrieved and assessed by manual sorting from 2005 to 2015. Relevant reports in literature were reviewed.</p><p><b>RESULT</b>A preterm infnat at gestational age of 35 weeks with birth weight of 1 900 g was admitted to our department. Oral ibuprofen for closure of the patent ductus arteriosus failed, and the patient exhibited the features of"ventilator dependent"PDA of premature infants. On the 30th postnatal day, with the body weight of 1 950 g, under basal anesthesia, the infant underwent percutaneous transcatheter PDA occlusion, and the procedure successfully occluded the ductus with Amplatzer duct occluder (ADO). The ventilator was weaned 19 hours post procedure, and the child was discharged 7 days post operation with good recovery, and her growth and development was good. Follow-up for 13 months indicated that the intelligence and physical development evaluated by Bayley scales of infant development test were at the same level of normal age-matched infants. Fifty-two preterm infants treated with percutaneous transcatheter PDA occlusion in 8 reports were enrolled. The preterm infants were born at 23-35 gestational weeks, with PDA diameter of 1-4 mm. The occlusive device included coil, ADO, ADO Ⅱ, ADO Ⅱ AS, AVP Ⅱ and AVP Ⅳ respectively, with body weight of 870-2 610 g on operational days and age of 11-90 postnatal days. All those infants either failed or had contraindications to drug therapy, and exhibited as hsPDA cases. Percutaneous transcatheter PDA occlusions were performed successfully in all 52 cases, and there were no serious procedure-related complications.</p><p><b>CONCLUSION</b>Percutaneous transcatheter PDA occlusion in preterm infants is feasible and showed positive short-term and long-term effects, which provides an important alternative way for patients with the problem. The indications for transcatheter PDA occlusion include premature infants with hsPDA in whom drug therapy failed or is contraindicated.</p>
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Female , Humans , Infant , Infant, Newborn , Birth Weight , Body Weight , China , Ductus Arteriosus, Patent , General Surgery , Gestational Age , Ibuprofen , Therapeutic Uses , Infant, Premature , Septal Occluder DeviceABSTRACT
Objective:To explore the clinical effect of negative pressure wound therapy and to discuss the ethi-cal issues in this therapy and seek a solution. Methods:Sixty patients with negative pressure wound therapy in our hospital were invited to participate in this study. Patients were all with deep pressure ulcers or diabetic foot, of which the Wagner Scores were graded as three or four. They were divided into two groups randomly. The subjects in control group received standard treatment, while those in experimental group were treated by self -designed closed negative pressure drainage settings. The wound healing time, the cost of the treatment and comfort were compared between the two groups. Results:The cost of wound care in the experimental group was less than those in the control group (P0. 05). But the wound healing time was longer in the experimental group than those in the control group. Conclusion:Self-designed closed negative pressure settings can decrease the cost of patient care with the equal patient comfort and acceptance as the standard negative pressure, however, the wound healing time has been extended. So before using negative pressure technique, the medical staff should comprehensively analyze, be guided by medical ethics and choose the appropriate treatment for different patients.
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Objective To design a kind of aseptic drainage device with safe practice and accurate measurement for clinical nurses. Methods The experiment group included 63 cases using drainage device with accurate measurement,and control group included 63 cases using disposal drainage bag with scale of visual measurement.The accuracy of drainage liquid measurement was compared between two groups,and bacterial culture was made for the drainage liquid of two groups.Results The measurement error of experiment group and control group was(3.31±1.8)mL and(56.0±5.8)mL,respectively.The difference was significant(t=-4.593,P0.05). Conclusion The accurately measured aseptic drainage device is convenient for nurses to practice in clinics,and its application can reduce workload of nurses and decrease the occurrence of pollution.
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AIM: To explore whether AT2 receptor is expressed in skeletal muscular vasculature, and the expression of angiotensin Ⅱ receptors in pulmonary circulation of children with left-to-right shunt but without obstructive pulmonary hypertension. METHODS: Lung and skeletal muscular tissue were obtained from 20 children with left-to-right shunt by biopsy during operation. These skeletal muscular tissues were detected by reverse transcriptase/polymerase chain reaction (RT-PCR ) and immunohistochemistry techniques for AT2 receptors. mRNA of AT1 and AT2 receptors in lung tissues were detected by RT-PCR and analyzed semi-quantitatively. RESULTS: In all of the skeletal muscular tissues, mRNA of AT2 receptor was found by RT-PCR, and the results of immunohistochemistry staining for AT2 receptor of vessels were positive. In the lung tissues, the level of mRNA of AT2 receptor was different to AT1 receptor, and the former was higher than the latter (P
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Objective To evaluate the compositive methods of endovenous treatment with laser in the treatment of superficial varicosities in lower extremities individually.Methods Two hundred ninty-five limbs in 285 patients with chronic venons insufficiency were studied.According to the clinical manifestations,ultrasound and venography and using the clinical-etiology-anatomy-pathophysiology(CEAP) classification of chronic(venous) insufficiency,the patients were grouped A,B and C.Three surgical strategies were used.Group A:Simple endovenous laser therapy(129 limbs,43.72%).Group B: Endovenous laser therapy combined with punctate ligation(143 limbs,48.47%).Group C: Endovenous laser therapy combined with external banding valvuloplasty of superficial femoral vein and punctate ligation(23 limbs,7.8%).Results The cirsoid superficial vein disappeared in all the groups.The color of the skin became lighter,and swelling was reduced.The ulcers healed or shrunk in size.Conclusions Endovenous laser treatment(EVLT) is an(effective) minitraumatic operation for treatment of varicosities of lower extremities.The use of EVLT combined with other surgical procedures is effective treatment for primary deep venous valvalar insufficiency.