[Clinical features and TTC21B genotype of a child with nephronophthisis type 12].

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 ß2-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.

Clinical features and prognosis of patients with thrombotic thrombocytopenic purpura associated with systemic lupus erythematosus: a review of 25 cases.

OBJECTIVE: To report the clinical features of patients with systemic lupus erythematosus (SLE) associated with thrombotic thrombocytopenic purpura (TTP). Their diagnosis, treatment, and prognosis were also discussed. METHODS: A total of 25 TTP-SLE pediatric patients were included in this study. Their clinical symptoms, laboratory findings, disease activity, and renal biopsy were retrospectively reviewed. RESULTS: The median age of the patient cohort was 14 years old. Nine patients were first diagnosed with SLE, followed by the diagnosis of TTP-SLE, whereas 15 patients were diagnosed with TTP and SLE concurrently. All the 25 TTP-SLE patients had decreased platelet count and microangiopathic hemolytic anemia. Fever, rash, edema and neurological symptoms were the main clinical symptoms. Fragmentation of erythrocytes on blood smear and increased LDH were found in all patients. Nineteen patients (76%) had impaired renal function. Renal biopsy showed that most of the patients had lupus nephritis class IV (20%) and TMA (20%). 13 patients (52%) were treated with glucocorticoids in combination with immunosuppressive agent, and 10 patients (40%) were treated with plasma exchange combined with glucocorticoids plus immunosuppressive agent. One patient died due to lung infection; others had disease remission. Fifteen patients had follow-up regularly, and their conditions were stable. CONCLUSION: Patients with TTP-SLE often had moderate to severe lupus disease activity. Testing of LDH level and blood smear should be performed when kidney and neurological symptoms arise in children with SLE. The use of combination therapy, glucocorticoids plus immunosuppressive agent, provided satisfactory clinical outcome. Patients with refractory TTP-SLE will also need plasma exchange therapy.

Multi-center Study of Enteral Feeding Practices in Hospitalized Late Preterm Infants in China.

OBJECTIVE: To investigate the current enteral feeding practices in hospitalized late preterm infants in the Beijing area of China. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

[Macronutrients and energy in milk from mothers of premature infants].

OBJECTIVE: To study the dynamic changes in macronutrients and energy in human milk from mothers of premature infants. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.

[Clinical features of preterm infants born to mothers with systemic lupus erythematosus: a retrospective analysis].

OBJECTIVE: To retrospectively characterize clinical features of preterm infants born to mothers with systemic lupus erythematosus (SLE). METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.

[Factors associated with quality of life in survivors of gestational trophoblastic neoplasm after chemotherapy].

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.