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Objective:To analyze and summarize the efficacy and safety of thalidomide in the treatment of refractory systemic juvenile idiopathic arthritis（sJIA）.Methods:The clinical data of ten patients with refractory sJIA admitted to Department of Nephrology and Immunology in Children's Hospital of Hebei Province from January 2015 to March 2022 were collected，and the clinical manifestations，efficacy and safety of thalidomide in the treatment of refractory sJIA were analyzed retrospectively. Systemic juvenile arthritis disease activity score（sJADAS）was used to evaluate the efficacy of the treatment. Statistical analysis was performed by repeated measurements using general linear models.Results:Among the 10 children（4 males and 6 females）with refractory sJIA，the average age of onset was（7.5±3.3）years. Seven patients were complicated with macrophage activation syndrome at an early stage of disease.The average course of disease was（4.4±1.7）years，and the longest course of disease was 8.3 years. Before the application of thalidomide，all the 10 children experienced relapses（ranging from 2 to 10 times）. The indices of 10 children treated with thalidomide at 6 months and 12 months were compared with those before treatment. Peripheral blood leukocytes［（10.19±3.67）×10 9/L，（8.53±2.83）×10 9/L vs.（16.11±7.81）×10 9/L， F=7.918，11.084， P=0.020，0.009］，C-reactive protein［19.13（0.38，35.21）mg/L，8.05（0.10，18.00）mg/L vs. 59.34（24.20，131.90）mg/L， F=7.030，12.731， P=0.026，0.006］，sJADAS scores［6.00（1.50，12.50）scores，3.00（0，12.50）scores vs. 20.00（11.50，28.00）scores， F=14.710，17.870， P=0.004，0.002］were decreased significantly. The doses of prednisone［0.13（0，0.45）mg/（kg·d），0.02（0，0.06）mg/（kg·d）vs. 0.42（0.16，1.47）mg/（kg·d）， F=5.890，7.623， P=0.041，0.022］were significantly decreased.All the differences were statistically significant. Prednisone was successfully discontinued in 7 cases. Tocilizumab was gradually withdrawn in 3 cases，and tocilizumab administration interval was prolonged in 1 case. None of the 10 children had serious adverse reactions. Conclusion:Thalidomide is clinically effective in the treatment of sJIA，and can reduce the required dose of prednisone and prolong the tocilizumab free remission.
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Objective:To summarize the clinical manifestations, treatment and outcome of neonatal pseudo-Bartter syndrome caused by maternal hyperemesis gravidarum.Methods:This retrospective study collected the clinical data of a set of premature twins with pseudo-Bartter syndrome who were admitted to Hebei Children's Hospital in September 2022. Clinical features of the cases were summarized with descriptive analysis.Results:The twins born with a gestational age of 30 +3 weeks required tracheal intubation and mechanical ventilation due to premature birth and respiratory distress. They were transferred to our hospital 2 h after birth. The mother suffered from hyperemesis gravidarum and even had severe vomiting complicated by hypokalemia 3 d before delivery. The blood gas analysis of the twins at 2 h after birth showed severe metabolic alkalosis, hyponatremia, hypokalemia, hypochloremia and hyperlactatemia. Hyperglycemia appeared at 6 h after birth, and scleredema neonatorum at 24 h after birth. No significant abnormalities were found in the tandem mass spectrometer analysis of blood or urine samples. Whole-exome sequencing showed no abnormalities in the genes related to the phenotype. The twins were diagnosed with neonatal pseudo-Bartter syndrome. After symptomatic and supportive treatment, metabolic alkalosis and electrolyte disorders in the twins were completely resolved 4 d after birth. They were cured and discharged 51 d after birth without recurrence. Follow-up revealed no abnormalities in the physical or neurological development of the twins at 11 months after birth. Conclusions:Maternal hyperemesis gravidarum can lead to neonatal pseudo-Bartter syndrome, characterized by severe metabolic disorders as well as respiratory and circulatory dysfunction at the early stage after birth. Timely diagnosis and treatment are conducive to good prognosis in the affected neonates.
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Objective:To study the clinical features of neonatal hyperthyroidism.Methods:From September 2013 to September 2020, clinical data of neonates with hyperthyroidism admitted to the neonatal intense care unit of our hospital were retrospectively collected and analyzed.Results:A total of 7 neonates were included. The average gestation age was (35.8±2.3) weeks with 5 cases had GA<37 weeks. The median age of diagnostic was 16 d (7~18 d). The common clinical manifestations included tachycardia, irritability, low-grade fever, hyperhidrosis, bulimia, poor weight gain, diarrhea and jaundice. The levels of serum free triiodothyronine (FT 3) and thyroxine (FT 4) were elevated in all 7 cases and thyroid stimulating hormone (TSH) were decreased. The Doppler ultrasound of thyroid gland in two neonates revealed enlarged thyroid gland with abundant blood flow. All 7 mothers had hyperthyroidism with 4 mothers provided the history of hyperthyroidism and the other 3 were also confirmed after their infants were diagnosed. All 7 infants were treated with anti-thyroid drugs (ATD) and 2 were additionally given β-blockers to control heart rate. The median ATD duration was 40 d (7~58 d). 2 cases (both preterm infants) had slight decrease in FT 4 during medication. FT 4 of all 7 cases returned to normal before TSH. Conclusions:Neonatal hyperthyroidism has various and nonspecific clinical manifestations. Early diagnosis and timely treatment are important to prevent short-term and long-term adverse outcomes. Whether their mothers provide definite history of thyroid disorder or not, the thyroid function of the suspected neonates should be carefully monitored.
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The data of a child with sphingosine phosphate lyase insufficiency syndrome (SPLIS) admitted to Children′s Hospital of Hebei Province on February 4, 2020 were retrospectively analyzed.The child had edema, complicated with ichthyosis, adrenal calcification, and hearing loss from the early infancy.Laboratory examination results suggested a low albumin level, hypercholesterolemia, a high proteinuria level, abnormal liver and renal functions, and hyponatremia.The child gave up treatment and died at home.Whole Exome Sequencing (WES) results showed two hete-rozygous mutations of SGPL1 gene (chr10: 72604336, c.134G>A, p.W45X; chr10: 72629563, c.719G>T, p.S240I). SPLIS is inherited in an autosomal recessive manner.It starts in infancy, and affects the kidney, skin, endocrine, nervous and immune systems.It is suggested that SPLIS patients should take genetic examination.Early diagnosis, appropriate intervention, and vitamin B 6 treatment may relieve some symptoms of SPLIS patients.Adeno-associated virus mediated SGPL1 gene replacement therapy can be a novel cure of SPLIS and is worthy of investigation.
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Sedation has been paid more and more attention in the treatment of critically ill children,and applied in clinical commonly.There are different reports in the literature about all kinds of sedation drug and method of use,Ramesay,prevention and control of the sedation risk.At present,benzodiazepines are the main sedation drug and constant intravenous infusion of midazolam is the commonly used method of sedation.Rasmay,Comfort scale and bispectral index are used in assessing sedation commonly.Sedation assessment and Ecg respiratory care is the key to prevent and control sedation risk.