Analysis of clinical characteristics of 35 inflammasomopathies cases / 中华儿科杂志

Objective: To summarize the clinical characteristics of inflammasomopathies, enhance the recognition of those diseases, and help to establish the early diagnosis. Methods: The clinical manifestations including fever, rash, systems involvement as well as laboratory results and genotypic characteristics of 35 children with inflammasomopathies diagnosed by the Department of Pediatrics, Peking Union Medical College Hospital, from January 1, 2008 to December 31, 2020 were analyzed retrospectively. Results: A total of 35 cases of inflammasomopathies were diagnosed, and 20 of them were boys while 15 were girls. Inflammasomopathies patients have early onset, the age of onset as well as diagnostic age were 1 (0,7) and 7 (3,12), respectively. Among those patients, 10 had familial mediterranean fever, 3 had mevalonate kinase deficiency, 15 cases had NLRP3 gene associated autoinflammatory disease, 4 cases had NLRP12-associated autoinflammatory disease, 2 cases had familial cold autoinflammatory syndrome 3, and 1 case had familial cold autoinflammatory syndrome 4. A total of 34 cases (97%) showed recurrent fever, 27 cases (77%) had skin rashes, while 11 cases (31%), 10 cases (29%), and 8 cases (23%) were presented with lymphadenopathy, hepatosplenomegaly and growth retardation, respectively. In terms of systemic involvement, there were 18 cases (51%), 12 cases (34%), 8 cases (23%), and 5 cases (14%) with skeletal, neurological, auditory, and renal involvement, respectively. Central nervous system involvement was seen only in NLRP3 gene associtated autoinflammatory diseases (12 cases), sensorineural deafness was seen in NLRP3 gene associtated autoinflammatory diseases (6 cases) and NLRP12 gene associated autoinflammatory diseases (2 cases), and abdominal pain was observed in familial Mediterranean fever (5 cases), mevalonate kinase deficiency (1 case) and NLRP12 gene related autoinflammatory diseases (1 case). In the acute inflammatory phase, the acute phase reactants (erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)) of 35 cases (100%) were significantly increased. There were 21 cases received ferritin examination, and only 4 cases (19%) showed an increase of it. In terms of autoantibodies, among all 35 patients, 4 cases (11%) were positive for antinuclear antibodies (ANA). Conclusions: Fever, skin rash, and skeletal manifestations are the most common clinical features, accompanied with increased CRP and ESR, and negative results of autoantibodies such as ANA. The clinical manifestations of those diseases are complex and diverse, and it is prone to delayed diagnosis and treatment.

Clinical features and TTC21B genotype of a child with nephronophthisis type 12 / 中国当代儿科杂志

Nephronophthisis (NPHP) is a group of autosomal recessive tubulointerstitial cystic kidney disorders. This article reports a case of NPHP type 12 caused by TTC21B mutations. The girl had an insidious onset, with moderate proteinuria, renal dysfunction, stage 2 hypertension, situs inversus, and short phalanges when she visited the hospital for the first time at the age of 3 years and 6 months. The renal lesions progressed to end-stage renal disease (ESRD) before she was 4 years old. Urine protein electrophoresis showed glomerular proteinuria. There were significant increases in urinary β2-microglobulin and α1-microglobulin. Gene detection revealed two compound heterozygous mutations, c.1552T>C (p.C518R) and c.752T>G (p.M251R), in the TTC21B gene, which came from her father and mother respectively. The c.752T>G mutation was a novel mutation. It is concluded that besides typical tubular changes of NPHP, marked glomerular damage is also observed in patients with TTC21B gene mutations.

Multi-center Study of Enteral Feeding Practices in Hospitalized Late Preterm Infants in China / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To investigate the current enteral feeding practices in hospitalized late preterm infants in the Beijing area of China.</p><p><b>METHODS</b>A multi-center, cross-sectional study was conducted. Infants born after 34 weeks and before 37 weeks of gestation were enrolled from 25 hospitals in the Beijing area of China from October 2015 to October 2017. Data on enteral feeding practices were collected and analyzed.</p><p><b>RESULTS</b>A total of 1,463 late preterm infants were enrolled, with a mean gestational age (GA) of 35.6 (34.9, 36.1) weeks. The percentage of exclusive breastfeeding was 4.5% at the initiation of enteral feeding but increased to 14.4% at discharge. When human milk was not available, most infants (46.1%) were fed with preterm infant formula. The rate of exclusive human milk feeding in infants born at 34 weeks gestation was higher than at discharge (21.1% of infants born at 34 weeks' GA versus 12.1% of infants born at 35 weeks' GA versus 12.3% of infants born at 36 weeks' GA, P < 0.001). Only 28.4% of late preterm infants achieved full enteral feeding at discharge, and only 19.2% achieved 120 kcal/(kg•d) by enteral feeding at discharge. Importantly, 40.5% of infants did not regain the birth weight at discharge.</p><p><b>CONCLUSION</b>Enteral feeding support of late preterm infants has not been standardized to achieve optimal growth. Moreover, the human milk feeding rate was low, and many late preterm infants did not achieve the goal of enteral feeding and failed to regain birth weight at the time of discharge. More aggressive enteral feedings protocols are needed to promote human milk feeding and optimize growth for late preterm infants.</p>

Macronutrients and energy in milk from mothers of premature infants / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the dynamic changes in macronutrients and energy in human milk from mothers of premature infants.</p><p><b>METHODS</b>A total of 339 human milk samples were collected from 170 women who delivered preterm or full-term infants in the Department of Obstetrics and Gynecology, Peking Union Medical College Hospital between November 2012 and January 2014. Macronutrients (proteins, fats and carbohydrates and energy were measured using a MIRIS human milk analyzer and compared between groups.</p><p><b>RESULTS</b>In milk samples from premature infants' mothers, the protein levels were the highest in colostrum (2.22±0.49 g/dL), less in transitional milk (1.83±0.39 g/dL), and the least in mature milk (1.40±0.28 g/dL) (P<0.01), and the levels of fats (2.4±1.3 g/dL vs 3.1±1.1 g/dL; P<0.01), carbohydrates (6.4±0.9 g/dL vs 6.6±0.4 g/dL; P<0.05) and energy (55±9 kcal/dL vs 62±8 kcal/dL; P<0.01) were significantly lower in colostrum than in transitional milk. The protein levels in colostrum from premature infants' mothers were significantly higher than those in colostrum from term infants' mothers (2.22±0.49 g/dL vs 2.07±0.34 g/dL; P<0.05). The colostrum from mothers of premature infants with a gestational age of ≤30 weeks had significantly higher protein levels than those from mothers of premature infants with gestational ages of 30(+1)-33(+6) weeks and ≥34 weeks (2.48±0.68 g/dL vs 2.11±0.25 g/dL and 2.22±0.39 g/dL respectively, P<0.05); the energy levels in colostrum from mothers of premature infants with a gestational age of ≤30 weeks group (51±6 kcal/dL) were significantly lower than those in colostrum from mothers of premature infants with a gestational age of 30(+1)-33(+6) weeks (58±8 kcal/d; P<0.05). The carbohydrate levels in transitional milk from mothers of premature infants with a gestational age of ≤30 weeks were significantly higher than those in transitional milk from mothers of premature infants with gestational ages of 30(+1)-33(+6) weeks and ≥34 weeks (P<0.05). The protein levels in mature milk from mothers of premature infants with a gestational age of 30(+1)-33(+6) weeks were significantly higher than those in mature milk from mothers of premature infants with gestational ages of ≤30 weeks and ≥34 weeks (P<0.05).</p><p><b>CONCLUSIONS</b>The levels of macronutrients and energy in milk from mothers of premature infants vary significantly between colostrum, transitional milk, and mature milk. Protein levels are significantly higher in colostrum from premature infants' mothers than in colostrum from term infants' mothers, but the significant difference is not seen for mature milk. Macronutrient and energy levels show significant differences between milk samples from mothers of premature infants with different gestational ages, so as to meet different needs of premature infants.</p>

Clinical features of preterm infants born to mothers with systemic lupus erythematosus: a retrospective analysis / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To retrospectively characterize clinical features of preterm infants born to mothers with systemic lupus erythematosus (SLE).</p><p><b>METHODS</b>Clinical data of preterm infants born to mothers with SLE in Peking Union Medical College Hospital over a period of more than 10 years (2000-2012) and preterm babies born to mothers without SLE in the same hospital and during the same time period were collected. Preterm-associated complications in the two groups of babies were comparatively analyzed.</p><p><b>RESULTS</b>During the time period studied, 128 women with SLE delivered a total of 134 babies, 86 at full-term and 42 at preterm. Of the 42 preterm infants, 4 were diagnosed with neonatal lupus syndrome. Neonatal infection was the most common complication in preterm infants born to SLE mothers, which occurred in 20 cases (47.62%), followed by small for gestational age (28.57%), neonatal respiratory distress syndrome (26.19%), congenital heart disease (14.29%), and neonatal pulmonary hemorrhage (4.76%). In the same time period, 2 308 preterm babies were born to mothers without SLE. In these preemies, 16.81% experienced neonatal infection, 13.21% were small for gestational age, and 5.16% had congenital heart disease. All these parameters were significantly lower than in preterm babies born to mothers with SLE (P<0.05).</p><p><b>CONCLUSIONS</b>SLE preterm offspring seem to be more prone to neonatal infection, small for gestational age and at a higher risk of congenital heart disease as compared to preterm babies from women without SLE.</p>