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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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Objective:To compare the short-term outcomes of very low birth weight (VLBW) and extremely low birth weight (ELBW) infants supplementarily fed with fortified donor human milk (DHM) or preterm formula (PF) when the mother's own milk (MOM) is insufficient.Methods:This retrospective cohort study included 91 VLBW or ELBW preterm infants with birth weight<1 500 g who were hospitalized in Peking Union Medical College Hospital from October 1, 2017, to September 30, 2020. Based on the supplemental feeding method when MOM was insufficient, these infants were divided into the DHM group ( n=51) and PF group ( n=40). Mann-Whitney U, t-test, Chi-square test, or Fisher's exact test were used to compare the short-term clinical outcomes during hospitalization between the two groups. Results:(1) There were no statistically significant differences between the 91 preterm infants in the DHM group and PF group in their gestational age, birth weight, sex ratio, birth mode, mothers' age at delivery, or the proportion of infants of small gestational age (all P>0.05). (2) The feeding volume in the DHM group was significantly greater than that in the PF group on the 14th day after birth [(108.2±53.1) vs. (81.0±47.8) ml/(kg·d), t=0.78, P=0.020]. Moreover, the time to achieve the feeding amounts up to 120 ml/(kg·d) and 150 ml/(kg·d) for infants in the DHM group were significantly shorter than those in the PF group [(17.5±10.2) vs. (30.0±12.0) d, t=4.38; (22.1±13.3) vs. (32.3±11.9) d, t=0.02; both P<0.05]; (3) Lower proportion of peripherally inserted central catheter (PICC) [58.8% (30/51) vs. 100% (40/40), χ 2=21.88, P<0.001] and shorter PICC duration were observed in the DHM group [10.0 (0.0-19.0) vs. 29.0 (17.0-40.5) d, Z=5.56, P<0.001] compared to the PF group. The times of red blood cell transfusions and the incidence of late sepsis in the DHM group were less than those in the PF group [0.0 (0.0-2.0) vs. 2.0 (1.0-3.0) times, Z=4.44, P<0.001; 23.5% (12/51) vs. 50.0% (20/40), χ 2=6.39, P=0.011]. There were no statistically significant differences observed in the incidence of bronchopulmonary dysplasia, neonatal necrotizing enterocolitis, retinopathy of prematurity, and the length of hospitalization (all P>0.05). Conclusion:When MOM is insufficient, supplementing VLBW and ELBW infants with fortified donor human milk can shorten the time to achieve enteral nutrition and reduce the use rate and time of PICC, the incidence of late-onset sepsis, and the times of red blood cell transfusion.
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This article reported a case of multiple mitochondrial dysfunction syndrome type 3 with the early manifestation of dyspnea and hypoxemia. The patient was a male newborn who had dyspnea, which was manifested as nasal flaring, three concave sign, and hypoxemia after birth. These manifestations were improved after oxygen support through nasal cannula, but continuous low-flow oxygen therapy was needed. Chest X-ray indicated a bell-shaped thorax with pulmonary hypertension. Whole-exome sequencing identified compound heterozygous variants of c.341+1G>A and c.785G>A (p.G262D) in IBA57 gene of the patient, which were pathogenic and inherited from his mother and father, respectively. Symptomatic epilepsy, nystagmus, and central respiratory failure appeared at the age of 3 months. Cranial magnetic resonance image findings were consistent with the signs of mitochondrial leukoencephalopathy. The patient still had recurrent convulsions despite the treatment with levocarnitine, vitamin B 2, vitamin B 1, vitamin E, coenzyme Q10, levetiracetam, and mechanical ventilation through a tracheal tube. The patient showed a poor response to the treatment and died after withdrawing from treatment.
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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 investigate the current nutrition support status of hospitalized small for gestational age infants born late preterm in hospitals of Beijing, and analyze the influencing factors.Methods:Clinical data of late preterm infants from 25 medical units in Beijing between October 2015 and October 2017 was collected and analyzed. Infants were assigned into two groups according to the relationship between their gestational age and birth body weight as small for gestational age(SGA) group and not small for gestational age(non-SGA) group, to compare their nutritional status and explore the related influential factors.Results:Totally, 1 347 late preterm infants were enrolled, including 730 males and 617 females, 151 in SGA group and 1 196 in non-SGA group. The data showed that the rate of exclusive breast-feeding was higher (5.3% vs 4.5%, P<0.01), and the increasing of milk volume was slower [11.0 vs 12.1 ml/(kg·d), P=0.003] in SGA group. More parenteral nutrition was used (77.5% vs 53.1%, P<0.01), and the duration of parenteral nutrition was longer (5.0 vs 2.0 days, P<0.01) in SGA group. The birth weight(1 940 vs 2 490 g, P<0.01), the lowest body weight(1 890 vs 2 400 g, P<0.01) and the discharged body weight(2 135 vs 2 530 g, P<0.01)were lower in SGA group. The SGA group showed lower body weight loss(3.1% vs 8.0%, P=0.015), slower weight growth(13.3 vs 33.0 g/d, P<0.01), and longer length of hospital stay (11.0 vs 8.0 days, P<0.01). In SGA group, the milk volume at discharge [145.6 vs 122.2 ml/(kg·d), P<0.01] and the caloric of enteral feeding at discharge [443.9 vs 384.1 kJ/(kg·d), P<0.01] were higher, the rate of infants who regained their birth weight during hospitalization(78.8% vs 57.9%, P<0.01) was higher, and the rate of ones who achieve full enteral feeding (31.8% vs 16.6%, P<0.01) was higher. A Cox regression analysis in which we set infants can achieve full enteral feeding as goal showed that independent factors associated with full enteral feeding at discharge in SGA group included the increasing of enteral feeding, the duration of parenteral nutrition, whether the length of hospital stay longer than 7 days or not whether exclusive breastfeeding and whether the mothers of enrolled infants were diagnosed gestational diabetes mellitus or placental abruption during pregnancy ( P<0.05). Conclusions:Infants in SGA group show slower increasing of milk volume and lower caloric amount of enteral feeding. More parenteral nutrition is used, and the duration of parenteral nutrition is longer in SGA group. Due to the longer length of hospital stay in SGA group, the milk volume and the caloric of enteral feeding at discharge are higher, more infants regain their birth weight during hospitalization, and more infants achieve full enteral feeding at discharge. Despite of higher portion of parenteral nutrition, infants in SGA group show slower weight growth and lower body weight at discharge.
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Objective:To investigate the status and influencing factors of enteral nutrition support in late preterm infants (34-36 +6 gestational weeks) treated in different grades of hospitals in Beijing. Methods:This was a prospective study involving late preterm infants treated in 25 hospitals in Beijing from October 2015 to October 2017. Data about nutritional management and nutrition-related complications were recorded. Exclusive breastfeeding status of the infants by gestational age(GA) and hospital levels was analyzed. The achievement of full enteral feeding and the potential influencing factors were also analyzed. t-test, Mann-Whitney U test, analysis of variance (ANOVA), Kruskal-Wallis test and Chi-square test were used for statistical analysis. Logistic regression and Cox regression analysis were used in multivariate analysis. Results:(1) A total of 1 463 late preterm infants with GA of 35.6±0.8 (ranging from 34.9 to 36.1) weeks was enrolled in this study. Compared with the infants with GA of 35-35 +6 and 36-36 +6 weeks, those born at 34-34 +6 gestational weeks had longer hospital stay [10 (8-13) vs 8 (7-10) and 7 (6-9) d, both P<0.05], greater loss of minimum weight [4.3% (2.6%-6.3%) vs 3.8% (2.0%-5.6%) and 3.3% (1.9%-5.5%), both P<0.05], higher incidence of apnea [5.3% (20/369) vs 2.1% (12/566) and 1.3% (7/528), both P<0.05] and respiratory distress syndrome (RDS) [7.1% (28/369) vs 3.0% (17/566) and 3.2% (17/528), both P<0.05], and lower percentage of failure to regain birth weight at discharge [32.5% (120/369) vs 38.7% (219/566) and 47.9% (253/528), both P<0.05]. Only the incidence of premature rupture of membranes among all maternal complications during pregnancy had statistical difference between 34-34 +6, 35-35 +6 and 36-36 +6 GA groups [6.2% (23/369) vs 12.7% (72/566) and 11.9% (63/528), χ2=10.244, P=0.007]. (2) The rate of enteral feeding increment in hospital was 13.7 (10.5-17.3) ml/(kg·d) and 46.0% (673/1 463) of the infants were fed formula. The exclusive breastfeeding rate increased from 4.5% (66/1 463) during hospitalization to 14.4% (211/1 463) at discharge. The breastfeeding rate at discharge varied widely among the 25 hospitals ( χ2=327.893, P<0.001) ranging from 32% to 0. (3) Logistic regression analysis demonstrated that gestational diabetes mellitus ( OR=2.426, 95% CI: 1.075-5.437, P=0.033) and premature rupture of membranes ( OR=8.726, 95% CI: 1.193-63.802, P=0.033) were the prenatal risk factors influencing the exclusive breastfeeding in late preterm infants. Enteral nutrition achieving 150 ml/(kg·d) and 120 kcal/(kg·d) (1 kcal=4.184 kJ) were noted for 28.4% (416/1 463) and 19.2% (281/1 463) of the late preterm infants at discharge, respectively. Cox regression analysis showed that hospital grades ( HR=1.470, 95% CI: 1.030-2.098, P=0.034), the length of hospital stay ( HR=1.162, 95% CI: 1.097-1.231, P<0.001), birth weight ( HR=0.946, 95% CI: 0.898-0.995, P=0.003), exclusive breastfeeding ( HR=2.354, 95% CI:1.031-5.374, P=0.042), feeding intolerance ( HR=3.677, 95% CI: 1.201-11.253, P=0.023), parenteral nutrition ( HR=1.900, 95% CI: 1.379-2.616, P<0.001), and the rate of enteral feeding advancement ( HR=1.426, 95% CI: 1.369-1.484, P<0.001) were independent factors associated with full enteral feeding at discharge. Conclusions:Exclusive breastfeeding rate in late preterm infants is low and enteral nutrition support varies greatly in different hospitals. The rate of enteral feeding increment is slow for hospitalized late preterm infants and most fail to achieve full enteral feeding at discharge. Gestational diabetes mellitus and premature rupture of membranes are prenatal risk factors affecting breastfeeding of late preterm infants. Those with low birth weight, exclusive breastfeeding in hospital, feeding intolerance, parenteral nutrition support, longer hospital stay or rapid enteral feeding advancement are more likely to achieve full enteral feeding at discharge.
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Objective To evaluate the nutritional status of extremely low birth weight (ELBW) infants and the effects of nutritional support strategy alterations on their growth during hospitalization.Method From 2005 to 2014,clinical data of ELBW infants admitted to the neonatal intensive care unit (NICU) in our hospital were retrospectively analyzed.The clinical data included their general status,enteral and parental nutritional support strategy and complications during hospitalization The patients were assigned into pre5 group and late5 group.Those who survived and discharged from 2005 to 2009 were the pre5 group,and those who survived and discharged fromn 2010 to 2014 were the late5 group.The independent t test and chi square test were used for statistical analysis.Result A total of 58 ELBW infants were enrolled in the study,including 18 patients in the pre5 group and 40 in the late5 group.No statistically significant differences existed between the two groups on gestational age,birth weight,Z score (weight for length and gender),birth length,head circumference and main complications during hospitalization (P ＞0.05).Pre5 group had higher incidence of small for gestational age (SGA) than late5 group (16/18 vs.25/40,P =0.037),while the EUGR ratio at discharge (14/18 vs.21/40,P =0.061) was similar.When compared with pre5 group,late5 group had larger amount of initial enteral feeding volume [4.4 ml/(kg · d) vs.2.4 ml/(kg · d),P =0.014] and feeding volume at the end of the first week [(19.8 ± 16.0) ml/(kg · d) vs.(12.2 ±9.5) ml/(kg · d),P =0.036].Similarly,the starting dose of amino acids in parenteral nutrition [2.0g/(kg· d) vs.1.0 g/(kg· d),P＜0.001],maximum dose of amino acids [4.0g/(kg.d) vs.3.5 g/(kg · d),P ＜ 0.001],total calories at the end of the first week [(82.6 ± 12.6) kcal/(kg · d) vs.(71.1±15.2) kcal/(kg· d),P=0.004] and the second week [(103.7 ±19.8) kcal/(kg· d) vs.(92.3 ± 17.9) kcal/(kg · d),P =0.041],the weight gain velocity from birth to discharge [(18.7 ± 2.9) g/(kg.d) vs.(16.9±2.8) g/(kg· d),P=0.031] and change of Z scores (AZ) [-0.6 (-1.0,-0.4) vs.-1.2 (-1.6,-0.8),P =0.004] showed significantl differences between the two groups,with better outcomes in late5 group.However,the duration of parenteral nutrition,the total amount of amino acids,the time reaching total enteral feeding,the length of hospital stay were similar between the two groups.Ten cases(61.1％)of infants in pre5 group were breastfed,and four of them used human milk fortifier (HMF) (fortified rate was 22％).32 cases (80％) in late5 group were breastfed and 23 cases used HMF (fortified rate was 57.5％).The time to initiate HMF in the late5 group was at (30.2 ± 13.2) days,and human milk amount was (89.9 ± 34.5) ml/kg,fortified duration was (32.8 ± 15.7) days.Conclusion The enteral feeding strategy were more vigorous in the last 5 years than before,the initial feeding volume,the increasing rate,the initial dosage of amino acid,and maximum dosage of amino acid had been increased.Human milk and HMF of preterm infants were preferred.The vigorous nutritional support strategy were effective for the weight gain of ELBW infants without obvious side effects during hospitalization.
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Objective To evaluate the long-term effects of postnatal dexamethasone administration in prevention or treatment of chronic lung disease (CLD) in preterm infants.Methods All randomized controlled clinical trials (RCT) on long-term effect of postnatal dexamethasone in prevention or treatment of chronic lung disease in preterm infants were searched in Medline,Embase database,Cochrane Library and Chinese Medical Citation Index database,China National Knowledge infrastructure,VIP Chinese Periodical Database and Chinese Digital Hospital Library and Wanfang Chinese periodical database.As a supplementation,the works of domestic and international pediatric conferences were collected by manual search.The follow-up time was defined as longer than two years.Revman 5.0 was used for Meta-analysis for the effects of dexamethasone on nervous system,respiratory system and mortality.Results Eight RCTs fulfilled the including criteria.Statistical analysis revealed that the incidence of recurrent respiratory disease decreased from 49.7％ to 38.9％ in the dexamethasone group compared to the control group with RR =0.57 (95％ CI:0.37-0.88,P ＜ 0.05).But the incidence of cerebral palsy in dexamethasone group increased significantly (RR =1.95,95％ CI:1.41-2.71,P ＜ 0.01).Stratified analysis revealed that the incidence of cerebral palsy in early-use group (within 1 week after birth) was higher than that in control group (RR =2.59,95％ CI:1.59-4.21,P ＜0.01) ; while the incidence in later-use group (1 week after birth) was not statistically different from that in control group (RR =1.5,95％ CI:0.95-2.36,P =0.08).There were no significant differences in the incidence of mental retardation (RR =0.77,95％ CI:0.28-0.14,P ＞ 0.05),deafness (RR =0.52,95％ CI:0.17-1.56,P =0.24) and severe visual impairment (RR =1.56,95％ CI:0.77-3.18,P =0.22) between dexamethasone group and control group,as well as in mortality rate (RR =0.91,95％ CI:0.71-1.16,P ＞ 0.05).Conclusions Intravenous administration of dexamethasone after birth for prevention or treatment of CLD in preterm infants can reduce the incidence of recurrent respiratory diseases in childhood; meanwhile the incidence of cerebral palsy may increase,it almost occurs in the early dexamethason administration group,not in the late group.Dexamethasone may not reduce the mortality of CLD.
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Objective To measure the quality of life (QoL) of gestational trophoblastic neoplasia ( GTN ) survivors after chemotherapy by using a self-invented scale, and to explore the factors associated with QoL Methods The design of questionnaire was based on a series of internationally valid QoL scales,which was tested by epidemiology and showed good reliability and validity. A total of 100 survivors of GTN patients from Peking Union Medical College Hospital participated in this survey from December 2008 to May 2009. Results Patients with disease-free more than three months after chemotherapy enjoys a good QoL,while only 16% (16/100) of survivors feel general overall QoL, but no one feels bad Qol. As refer to sexual function, more than half of these patients (70%, 70/100) satisfied with their sexual life, while there were still 47% (47/100) and 45% (45/100) of the patients complaining of decreased sexual desire and dryness of vagina. 66% (66/100) of the GTN survivors expressed depression, and 50% (50/100) of patients complained anxiety, which were potential factors influencing QoL of GTN survivors. Relevant analysis explored the possible predictors of QoL for GTN patients, including physical function ( r = 0. 609,P ＜0. 01 ), sexual function ( r = 0. 473, P ＜ 0. 01 ), and social psychology ( r = 0. 294, P ＜ 0. 01 ).Conclusions GTN survivors have an overall good QoL after chemotherapy, the possible predictors of QoL for GTN patients include physical function, sexual function and social psychology. The sexual dysfunctions mostly present with short of sexual desire and dryness of vagina. Fear of recurrence may be a potential factor influencing QoL a long term after remission.