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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.
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Objective:To study the clinical characteristics and risk factors of nephrocalcinosis in preterm infants.Methods:From March 2021 to August 2021, all preterm infants admitted to NICU of our hospital were retrospectively analyzed. The infants were assigned into nephrocalcinosis group and non-nephrocalcinosis group according to urinary tract ultrasound. Clinical data including gestational age, birth weight(BW), nutritional support strategy and complications were reviewed.Results:A total of 40 preterm infants (<34 weeks) were enrolled. 9 cases were in the nephrocalcinosis group and 31 cases in the non-nephrocalcinosis group. The nephrocalcinosis group had lower BW[(1 167±214) g vs.(1 586±215) g], higher calcium [6.9 (5.1, 8.7) g vs.3.3 (2.1, 6.8) g] and vitamin D intake [3.2(2.5, 4.2)×10 4U vs.1.7(1.1, 3.2)×10 4U] during hospitalization. No significant differences existed between the two groups on the following items:blood calcium and phosphate, 25-hydroxyvitamin D, feeding strategy, time to reach full enteral feeding(TFF), furosemide dosage and respiratory support duration ( P>0.05). In the nephrocalcinosis group, the median age of diagnosing nephrocalcinosis was 40.0(30.0, 52.5)d after birth. 5 cases showed bilateral nephrocalcinosis. 5 cases in the nephrocalcinosis group received renal tubule function examination,4 cases had increased urine β2 microglobulin and 2 cases had increased urine α1 microglobulin. 7 cases had elevated urine calcium in the nephrocalcinosis group. Follow-up showed that nephrocalcinosis disappeared 3-9 months after birth. Conclusions:BW, total calcium and vitamin D intake are risk factors for nephrocalcinosis in preterm infants. Increased urine β2 microglobulin and calcium levels are common co-morbidities in preterm infants with nephrocalcinosis.
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The traditional Chinese medicine (TCM) in pediatric care has a long history,proven efficacy,and distinctive characteristics.The China Association of Chinese Medicine has organized a series of youth salons to discuss the clinical advantages of treating diseases.Experts at this seminar proposed that the superior disease categories in pediatric TCM are significant for showcasing the unique strengths and advantages of TCM in the treatment of pediatric diseases,enhancing diagnostic and treatment levels,inheriting TCM knowledge,promoting the integration of TCM and Western medicine,and meeting patients' needs.The strengths of pediatric TCM are summed up as "having what others do not,excelling at what others have,being special in what others excel at,and ensuring safety in what others specialize in." The scope of superiority in pediatric TCM covers multiple systems,including respiratory,digestive,endocrine,psychological,and dermatological systems.This article summarized the advantages of TCM in treating 13 diseases discussed in the salon,such as upper respiratory tract infections,coughs,pneumonia,allergic rhinitis,bronchial asthma,atopic dermatitis,functional dyspepsia,functional constipation,enuresis,marginal short stature,simple obesity,attention deficit hyperactivity disorder,and tic disorders.The overall advantages were reflected in three aspects:First,the holistic concept and treatment based on syndrome differentiation in TCM highlight the advantage of treating the root causes of diseases,making the treatment methodical and precise.Second,most traditional Chinese herbs are natural and have strong safety profiles.Third,TCM treatment methods are abundant,especially the external treatment methods,which are widely used in pediatrics,highly accepted by parents,and have definite efficacy,as well as good safety and compliance.
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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.
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The clinical data of 5 cases of chylous ascites in preterm infants admitted in NICU of Peking Union Hospital from 2001 to 2021 were retrospectively analyzed. There were 3 boys and 2 girls with the gestational age of 29 +1 weeks, and birth weight of (1 122±323) g. No peritoneal effusion was found on prenatal ultrasound examination. All the five cases diagnosed with chylous ascites after the initiation of enteral nutrition on d4 to d10. All cases were resolved by conservative treatment, including fasting with total parenteral nutrition for 3 wks. The parenteral nutrition strategy was specified by high protein concentration (4 g·kg -1·d -1) and low lipid emulsion (2.0-2.5 g·kg -1·d -1). Formula containing 50% medium chain triglyceride or human milk was fed sequentially, and no feeding intolerance or abdominal distension were observed. All patients were discharged stable and followed up for 3-5 years,and no recurrence occurred. The PubMed and Wanfang database were searched for cases of chylous ascites in preterm infants, and 7 cases were reported in literature. Six cases were diagnosed by antenatal ultrasound between 21 and 23 weeks of gestational age. Three cases underwent radionuclide lymphoscintigraphy, and 2 of them demonstrated peritoneal lymphatic fistula or lymphatic dilatation. Five cases were treated with fasting plus intravenous infusion of octreotide. Three infants who failed to respond to conservative treatment underwent surgical treatment. Four cases were complicated with sepsis and needed intravenous antibiotic treatment.
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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.
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Objective To prospectively investigate the radiation dose and image quality of pediatric chest CT using Sn100 kV on a third-generation dual-source CT (DSCT)in comparison to standard 100 kV chest CT. Methods From December 12,2015 to June 30,2016,45 consecutive pediatric patients referred for non-contrast chest CT scan in Peking Union Medical College Hospital were prospectively enrolled as study group. They were examined at 100 kV with a dedicated tin filter on a third-generation DSCT. These patients were retrospectively matched with 45 patients who were examined on a second-generation DSCT at 100 kV without tin filter. The radiation dose as well as the lung and mediastinal window image quality(IQ)of the two groups were compared and analyzed statistically. IQ was evaluated using a five-point scale (1=unevaluable,5=excellent). Differences of radiation dose and noise between the two groups were determined with variance analysis and t test,IQ with Mann-Whitney U test,and the consistency of diagnosis with Kappa test. Results The average CT dose index volume of the study group was (0.24±0.11)mGy,which was decreased by 92% compared with the control group [(3.10+1.18)mGy] (t=16.287,P=0.000). Mean dose-length product and mean effective dose for study group were significantly lower than those of control group [(7.13±4.72)mGy·cm vs. (84.78±46.78)mGy·cm,t=11.077,P=0.000;(0.11±0.06)mSv vs.(1.23±0.61)mSv,t=12.334,P=0.000]. There was no significant difference between the two groups in terms of image noise (t=-0.003,P=0.397)and contrast to noise ratio (t=0.545,P=0.488). There was no significant difference between the two groups in lung window IQ (doctor 1:U=796.000,P=0.055;doctor 2:U=889.500,P=0.277),while significant difference was seen concerning of the mediastinal window IQ (doctor 1:U=305.000,P=0.000;doctor 2:U=276.500,P=0.000). Referring to the lung window,the median IQ for the study group and control group was 4 (3-5)and 4 (3-5),respectively. All imaging findings had acceptable IQ. The breath motion artifacts (χ=13.846,P=0.001)and heart beat artifacts (χ=53.519,P=0.000)of the study group were significantly lower than those of the control group. Conclusion Compared with standard 100 kV chest CT,the use of tin-filtered Sn100 kV on a third-generation DSCT provided 92% dose reduction in pediatric chest CT examinations while maintaining diagnostically acceptable lung window images.
الموضوعات
Child , Humans , Artifacts , Feasibility Studies , Lung , Diagnostic Imaging , Radiation Dosage , Radiographic Image Interpretation, Computer-Assisted , Retrospective Studies , Thorax , Diagnostic Imaging , Tomography, X-Ray Computed , Methodsالملخص
Objective To retrospectively study the serum IgG and IgM antibodies against toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1&2 in various populations, and analyze the clinical values.Methods From 2008 to 2015, 2 661 pregnant women, 324 infertile women, 2 492 women with abnormal pregnancy history, 623 women with recent abnormal pregnancy, 261 infants with intrauterine growth retardation and other diseases, 170 women for preconceptual examination, and 702 women for physical examination in Beijing were included .Commercial EIA kits were used to detect serum IgG and IgM antibodies to toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1&2. Positive reactions of IgM antibodies to any pathogens were re-tested with another kind of commercial EIA kit. PEMS3.1 software was used for statistical analysis.Results The prevalence of serum IgG or IgM antibodies against toxoplasma, rubella virus, cytomegalovirus and herpes simplex virus type 1& 2 were found within 0.7%-1.6%(0-1.2%) , 85.3%-92.0% ( 0.4%-2.7%) , 89.1%-94.9% ( 0.7%-1.7%) , 74.8%-86.0% ( 0 -0.7%) , 8.1% -17.4% ( 0 -4.1%) respectively in the studied population groups.The prevalence of TORCH IgG and IgM antibodies were not found to be higher in both populations with past suspicious exposure ( infertile women and women with abnormal pregnancy history ) and recent suspicious exposure ( women with recent abnormal pregnancy and infants with intrauterine growth retardation and other diseases) than that in pregnant women and women for preconceptual and physical examination. Conclusion No associations between TORCH infections and the suspicious exposure were found in the populations above.
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Objective To study the clinical evaluation of gas exchange impairment in neonatal respiratory failure.Methods Blood gas, PaO2/PAO2, Qs/QT, PaO2/FiO2, A-aDO2 and RI of 53 newborn infants with respiratory failure in NICU of PUMCH from Jan. 1993 to Dec. 1997 were measured. Results These infants were divided into two groups according to PaO2/PAO2: moderate and severe respiratory failure. Qs/QT(11±3)%, PaO2/FiO2(183±113), A-aDO2(22.9±6.8)kPa, RI(2.5 ±0.8) in 21 neonates with moderate respiratory failure; Qs/QT(24±6)%, PaO2/FiO2 (82±30), A-aDO2 (49.3 ± 17.8)kPa,RI(7.6 ±3.4) in 32 neonates with severe respiratory failure(P<0.001). These results in respiratory failure caused by different pathogenesis were different. In meconium aspiration and pneumothorax group there were the highestQs/QT(32±3)% ,A-aDO2 (69.8 ± 12.2)kPa,RI(9.2 ±2.9)and the lowest PaO2/FiO2 (77±39). Mortality of infants with high pulmonary shunt was high. Qs/QT(17±8)% in 38 survives and (24±6)% in 10 died neonates( P<0.05). Conclusion The clinical evaluation using these indexes for newborn infants with respiratory failure is beneficial in recognizing pathogenesis,guiding therapy and evaluating prognosis.