ABSTRACT
Objective:To investigate the clinical, skeletal muscle pathological, and genetic characteristics of fatal infantile hypertonic myofibrillar myopathy (FIHMM).Methods:The clinical manifestations, laboratory assessments data and gene sequencing results of 10 patients diagnosed with FIHMM in Shenzhen Children′s Hospital from February 2017 to April 2021 were retrospectively analyzed.Magnetic resonance imaging (MRI) of both musculoskeletal system and the brain, and electromyogram (EMG) were performed in 3 cases, while muscle biopsy was performed in 2 cases.Results:Among these 10 cases, 1 case was from Northeast China and 1 case from East China, while the rest 8 cases were from South China.Eight of the 10 patients were male, and the other 2 cases were female.They were all born normal and not related to each other.The age of onset varied from 2 to 12 months.The main clinical manifestations for all the patients were progressive rigidity of the rectus abdominis (8 cases), neck muscles (7 cases), rectus abdominis (2 cases) and intercostal muscles (1 case), resulting in respiratory failure.Mildly to moderately elevated serum creatine kinase level was detected (436-5 804 IU/L) (reference range: 24-229 IU/L). Complex repetitive discharges can be seen in the EMG, without any myotonic potential.Muscle fiber degeneration, necrosis, and vacuolar degeneration were noted in the histopathological examination of the vastus lateralis and rectus abdominis.An abnormal red granular deposit was observed in a portion of the field of the modified Gomory Trichrome staining.Immunohistochemistry showed substantial deposition of desmin.Under the electron microscopy, the sarcomere structure of the muscle fibers was seriously disordered, with the destruction of Z-bands and the presence of granular deposits.The whole-exome sequencing identified the same homozygous variation c. 3G>A, p.Met1? of CRYAB gene in all the patients, but heterozygous variation in their parents. Conclusions:Axial muscles involvement, such as rectus abdominis rigidity, is the main clinical characteristic of FIHMM.c.3G>A, p.Met1? mutation in the CRYAB gene is a hotspot mutation in Chinese children.
ABSTRACT
Nowadays severe influenza is still the main disease threatening the health of children.Influenza virus infection is mainly involved in the human respiratory system,the clinical manifestations are mainly respiratory symptoms,but the influenza virus can also cause systemic disease,especially in patients with severe influenza is often associated with multi system involvement.This paper will introduce influenza associated hemophagocytic syndrome,influenza associated encephalopathy,influenza associated viral myocarditis,influenza associated renal complications,influenza associated complications of digestive system,influenza associated rhabdomyolysis.
ABSTRACT
Nowadays severe influenza is still the main disease threatening the health of children.Influenza virus infection is mainly involved in the human respiratory system,the clinical manifestations are mainly respiratory symptoms,but the influenza virus can also cause systemic disease,especially in patients with severe influenza is often associated with multi system involvement.This paper will introduce influenza associated hemophagocytic syndrome,influenza associated encephalopathy,influenza associated viral myocarditis,influenza associated renal complications,influenza associated complications of digestive system,influenza associated rhabdomyolysis.
ABSTRACT
Objective To discuss the influence of microRNA(miR)-155/miR-21 on toll-like receptor 4 (TLR4) in children with sepsis.Methods Fifty children with sepsis who were hospita-lized in Pediatric Intensive Care Unit,Shenzhen Children's Hospital,were enrolled in the study,and 15 healthy children at the same age were selected as healthy control group.Expression levels of TLR4 protein and human leukocyte antigen(HLA)-DR in CD14 + monocytes (MC) were detected by using flow cytometry,and sepsis patients were divided into 2 groups according to whether they exceeded the value of HLA-DR by 30％ or not.Expression level of programmed cell death factor 4 (PDCDM) and inositol phosphatases 1 containing SH2 (SHIP1) were detected at the same time.MC were separated by CD14 + immune magnetic bead,and expression level of miR-155,miR-21 and tumor necrosis factor-α (TNF-α),interleukin-10 (IL-10) mRNA in CD14 + MC were detected by using real-time fluorescent quantitative PCR.Results Sepsis group consisted of 27 male and 23 female,and their ages were (2.34 ± 0.79) years old,among whom 9 patients died.There were 36 patients in the HLA-DR increase group and 14 patients in the HLA-DR decrease group.Expressions ofTLR4(2.33±0.90),miR-155[(7.19±3.75) ×10 3] and TNF-α[(21.98±14.15) ×10-2 pg/L] in CD14 + MC were higher in the HLA-DR increase group than those in the HLA-DR decrease group [1.24±0.60,(4.83 ±1.17) × 10-3,(14.18±5.45) ×10-2 μg/L] and healthy control group[1.57±0.55,(3.99 ± 1.29) × 10-3,(1.61 ± 0.84) × 10 2 pg/L],and the differences were statistically significant(F =11.943,7.583,18.538,all P ＜0.05),while the expressions of miR-21 (12.10 ±5.66),IL-10[(29.74 ± 12.55) × 10-4 μg/L] in CD14 + MC were lower in the HLA-DR increase group than those in the HLA-DR decrease group[4.68 ± 2.07,(12.50 ± 5.73) × 10-4 μg/L] and healthy control group [2.39 ± 0.86,(2.04 ± 0.92) × 10-4 μg/L],and the differences were statistically significant(F =41.673,54.991,all P ＜ 0.05).The levels of SH1P1 and PDCD4 decreased in sepsis compared with healthy control group[0.70 ±0.36)vs.(1.59 ±0.48);(1.55 ±0.56) vs.(3.01 ±0.70)],and the differences were statistically significant (t =7.682,8.339,all P ＜ 0.05),but SHIP1 decreased more significantly in the HLA-DR increase group than that in the HLA-DR decrease group [(0.60 ± 0.34) vs.(0.97 ± 0.26)],and the difference was statistically significant (F =39.214,P ＜ 0.05).PDCD4 decreased more significantly in the HLA-DR decrease group than that in the HLA-DR increase group (0.94 ±0.19 vs.1.79 ±0.47),the difference was statistically significant(F =65.367,P ＜ 0.05).Conclusions Regulation imbalance of miR-155/miR-21 may be one of the reasons for abnormal expression of TLR4 in children with sepsis,and it plays a role in enlarged or inhibited expression of TLR4 in the sepsis process which results in different immune status in sepsis patients.
ABSTRACT
Objective To analyze the clinical characteristics of Kawasaki disease shock syndrome ( KDSS) and to improve the diagnosis,treatment and prognosis of patients. Methods A total of 924 cases of Kawasaki disease ( KD) hospitalized from January 2013 to April 2017 in our hospital were retrospectively an-alyzed,including 16 children with KDSS. And 30 patients with KD were randomly selected as the control group. The clinical characteristics,laboratory examination and treatment of the two groups were compared and analyzed. Results There were 9 males and 7 females in KDSS group,and average age was (3. 95 ± 2. 56) years. The average time to happen shock was (4. 31 ± 0. 79) days. There were no significant differences in gender,age and duration of fever between KDSS group and KD group respectively ( P >0. 05 ) . KDSS patients were more likely to develop abdominal pain, hepatic injury ( including elevated transaminase and jaundice),proteinuria,peritoneal effusion,pneumonia,coronary aneurysm,IVIG resistance and longer hospi-talization (P<0. 05). WBC[(28. 42 ± 10. 46) × 109/L vs. (20. 34 ± 7. 57) × 109/L],the neutrophils [(89.86 ± 7.00)％ vs. (73.14 ± 13.91)％],hsCRP (mg/L) [181.95(141.58,218.00) vs.94.65 (55. 33,109. 50)],PCT(ng/ml)[9. 68 (4. 85,12. 07) vs. 0. 09 (0. 04,0. 37)] and serum ferritin (ng/ml) [(388. 12 ± 241. 75) vs. (169. 86 ± 95. 14)] in the KDSS group was significantly higher than those in KD group (P<0. 05). There were no differences in ESR(mm/h) [(75. 71 ± 25. 25) vs. (79. 87 ± 22. 76)], fibrinogen (g/L) [(6. 17 ± 1. 45) vs. (6. 03 ± 1. 47)] between two groups (P>0. 05). The levels of plate-let count[ (655. 50 ± 226. 98) × 109/L vs. (549. 93 ± 119. 15) × 109/L],the albumin (g/L) [(22. 54 ±5.13)vs.(33.32±3.18)],serumsodium(mmol/L)[(130.47±2.79)vs.(134.77±2.81)]andserumpotassi-um (mmol/L) [(4. 59 ± 0. 74) vs. (4. 04 ± 0. 43)] and ejection fraction [(60. 16 ± 6. 18)％ vs. (64. 81 ± 3. 71)％] in KDSS group were lower than those in KD group (P<0. 05). During the course of treatment,14 patients were accepted fluid resuscitation and the average volume of fluid was (27. 19 ± 19. 58) ml/kg. Ten patients used vasoactive drugs. Six patients were treated with hormone ( methylprednisolone ) . All patients were discharged from hospital. Conclusion KDSS is a serious form of KD,the indicators of inflammatory response increased more obviously. Organ damage occurs more frequently,and often accompanies abdominal pain. Anti-shock treatment often requires fluid resuscitation and use of vasoactive drugs.
ABSTRACT
Objective To discuss the expression level of serum procalcitonin( PCT) and clinical val-ue in acute viral diarrhea patients. Methods A total of 186 patients with acute viral diarrhea treated in our hospital from September 2013 to September 2015 were retrospectively reviewed. One hundred and seven were male and 79 were female,of which 171 cases were infected by rotavirus and 15 cases infected by norovirus. The average age was ( 1. 29 ± 0. 89 ) years old. All patients′ blood and stool cultures were negative. The patients were divided into three groups according to the degree of dehydration and whether complicated with multiple organ dysfunction or not:severe group( complicated with severe dehydration,shock or multiple organ dysfunction,n=33),mild-moderate dehydration group(n=68) and no dehydration group(n=85). Thirty-five healthy children with the same age were enrolled as the control group. Serum PCT levels,high sensitivity CRP(hs CRP) and blood routine were detected. Results The serum PCT levels increased in 73 patients with acute viral diarrhea,8 cases>100 ng/ml,21 cases 5 to 100 ng/ml and 44 cases 0. 5 to 5. 0 ng/ml. PCT( ng/ml)[0. 36(0. 14,1. 67),hsCRP(mg/L)[3. 50(0. 70,14. 83)] and WBC( × 109/L)[9. 06(6. 79,12. 50)] levels increased in the diarrhea patients compared with those in the healthy group[0. 09(0. 05,0. 13);1. 00 (0.40,2.50);6.90(5.90,8.20)](all P 0. 05 ) . Conclusion PCT can increase in pediatric patients with acute viral diarrhea,especially in those with severe dehydration,shock and organ dysfunction. Continued high levels of PCT indicates critical condition and has poor prognosis. PCT can be used as a good indicator to evaluate the severity of disease and the prognosis.