Hereditary hemorrhagic telangiectasia: a report of two cases / 中国当代儿科杂志

This article reports two children with hereditary hemorrhagic telangiectasia (HHT). Patient 1 was a boy aged 12 years and was admitted due to intermittent cough and wheezing for more than 10 years. This boy and his mother and grandmother had a history of epistaxis. The boy had a history of the rupture of cerebral arteriovenous malformations. Gene detection showed a heterozygous mutation, c.277C>T(p.Arg93*), in the ENG gene. Patient 2 was a girl aged 13 years and was admitted due to cyanosis of lips for more than 1 year. The girl had a history of recurrent epistaxis and the manifestations of severe decline in pulmonary diffuse function, pulmonary hypertension, dilation of blood vessels at the distal end of lungs, and small arteriovenous communications in both lungs. Children with HHT often lack typical respiratory symptoms, which may lead to missed diagnosis and misdiagnosis in the early stage. Pulmonary computed tomography or right cardiac acoustic contrast can help with the diagnosis of HHT, and gene detection can improve the early diagnostic rate of this disease.

Management plan for prevention and control of novel coronavirus pneumonia among children in Xiangya Hospital of Central South University / 中国当代儿科杂志

@#Since December 2019, an epidemic of novel coronavirus pneumonia (NCP) has occurred in China. How to effectively prevent and control NCP among children with limited resources is an urgent issue to be explored. Under the unified arrangement of the Xiangya Hospital of Central South University, the Department of Pediatrics has formulated an action plan with Xiangya unique model to prevent and control NCP among children according to the current epidemic situation and diagnostic and therapeutic program in China.

Acute fever with rash, necrosis, and bullae in both lower extremities in a 12-year-old girl / 中国当代儿科杂志

A girl, aged 12 years, was admitted due to fever and rash for 3 days. The child developed recurrent high fever and rash on both lower extremities 3 days before, and the rash on left lower extremity quickly merged into a patch within 24 hours, with hemorrhage and necrosis in black and purple, large vesicles, and blisters in the center. Laboratory examination showed a reduction in platelet count and significant increases in fibrinogen and D-dimer during the course of the disease. The child was diagnosed with purpura flulminans. She was given meropenem combined with linezolid for anti-infection, injection of gamma globulin for immunoregulation, and low-molecular-weight heparin for anticoagulation. The fluid in the rash blisters was drawn and the wound was treated to prevent infection. The child's temperature returned to normal, with improvement in gangrene. She was discharged after platelet count, fibrinogen, and D-dimer had returned to normal. Purpura fulminans is a rare thrombotic hemorrhagic disease with rapid progression and is commonly seen in children. Without timely treatment, it may cause severe sequelae with high disability and mortality rates. Anti-infection, correction of coagulation function, and local management of gangrene skin are of great importance during treatment.

Pyrexia and hemoptysis for eight days in a school-age child / 中国当代儿科杂志

A girl was diagnosed with intravenous immunoglobulin (IVIG)-resistant Kawasaki disease (KD) due to pyrexia and hemoptysis for eight days. The girl was a school-age child with major clinical manifestations of pyrexia, skin rash, enlargement of bilateral cervical lymph nodes, conjunctival hyperaemia, red and cracked lips and strawberry-like tongue, followed by swelling of both hands and feet. Laboratory examination showed significant increases in white blood cell count, platelet count, C-reactive protein, erythrocyte sedimentation rate and liver enzymes, a significant reduction in albumin, and the presence of aseptic pyuria. After the first course of IVIG treatment, the girl still had recurrent pyrexia, with hemoptysis on day 2 after admission, and lung CT showed uneven luminance and patchy shadow. The symptoms were quickly alleviated after the second course of IVIG treatment combined with methylprednisolone and aspirin treatment. KD is a febrile disease characterized by multiple systemic vasculitis in childhood and can involve various organ systems such as the heart, lungs, kidneys and the nervous system. Therefore, it is necessary to carefully monitor and recognize the rare symptoms of KD, and early recognition of pulmonary complications of KD can avoid delay in diagnosis, prevent the development of more serious complications, and help with early treatment and disease recovery.

Levels of airway inflammatory mediators in peripheral blood in infants and young children with wheezing / 中国当代儿科杂志

OBJECTIVE@#To examine the levels of airway inflammatory mediators in peripheral blood in infants and young children with wheezing and to study the possible pathogenesis of wheezing from the aspects of T helper cell 1 (Th1)/T helper cell 2 (Th2) imbalance and airway inflammation.@*METHODS@#A total of 50 children aged 1 month to 3 years with an acute wheezing episode were enrolled as the wheezing group, and 25 age-matched healthy infants were enrolled as the healthy control group. According to the number of wheezing episodes, the wheezing group was divided into a first-episode group (n=25) and a recurrent wheezing (number of episodes ≥2) group (n=25). According to the presence or absence of high-risk factors for asthma, the wheezing group was divided into a high-risk factor group (n=22) and a non-high-risk factor group (n=28). According to the results of pathogen detection, the wheezing group was divided into a positive pathogen group (n=23) and a negative pathogen group (n=27). Levels of interleukin-2 (IL-2), interleukin-4 (IL-4), interleukin-5 (IL-5), interleukin-13 (IL-13), transforming growth factor-β1 (TGF-β1), and total IgE (TIgE) in peripheral blood were measured for each group. For children with wheezing, eosinophil (EOS) count in peripheral blood was measured, and related samples were collected for respiratory pathogen detection.@*RESULTS@#The wheezing group had significantly higher levels of IL-4, IL-5, IL-13, TGF-β1, and TIgE in peripheral blood than the healthy control group (P0.05). The correlation analysis showed that in children with wheezing, EOS count was positively correlated with IL-4 level (P<0.01), IL-4 level was positively correlated with IL-5 and IL-13 levels (P<0.01), IL-5 level was positively correlated with IL-13 level (P<0.01), and IL-2 level was positively correlated with TGF-β1 level (P<0.05).@*CONCLUSIONS@#Th1/Th2 imbalance with a predominance of Th2 is observed in infants and young children with wheezing. IL-4, IL-5, IL-13, TGF-β1, and IgE are involved in the pathogenesis of wheezing in these children. Airway inflammation is also observed in these children with wheezing, but it is not associated with the number of wheezing episodes, presence or absence of high-risk factors for asthma, or results of pathogen detection.

Liver dysfunction for 8 years with hypertension for 1 week in an 8-year-old girl / 中国当代儿科杂志

A girl, aged 8 years, developed jaundice and liver dysfunction in the neonatal period, with congenital glaucoma diagnosed on day 5 after birth, hypertension and unusual facies (broad forehead, hypertelorism and deep-set eyes). Cholestasis was the main type of liver dysfunction. Cardiac macrovascular CTA showed stenosis at the abdominal aorta and the beginning of the bilateral renal arteries. Whole exon sequencing revealed a heterozygous frameshift mutation, c.1485delC (absence of cytosine), in exon 12 of the JAG1gene. The girl was diagnosed with Alagille syndrome and was given transaminase-lowering, cholagogic and antihypertensive treatment with multiple drugs. There were significant reductions in serum levels of alanine aminotransferase, aspartate aminotransferase and total bile acid, but blood pressure fluctuated between 102-140 mm Hg/53-89 mm Hg. After renal artery angiography and balloon dilatation angioplasty, the girl was given oral administration of antihypertensive drugs, and blood pressure was controlled at a level of 110-120 mm Hg/60-80 mm Hg. The rare disease Alagille syndrome should be considered when a child has refractory hypertension with the involvement of multiple systems, especially liver dysfunction with cholestasis as the main manifestation. Genetic causes should be analyzed for a early diagnosis.

Clinical observation of macular choroidal thickness in patients with non-proliferative diabetic retinopathy / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To observe the changes of choroidal thickness(CT)in diabetic patients with different stages of non-proliferative diabetic retinopathy(NPDR)and then investigate the relationship between CT and diabetic retinopathy(DR), to assess the value of enhanced depth imaging optical coherence tomography(EDI-OCT)in the diagnosis of choroidopathy in early-stage DR. <p>METHODS: A total of 85 eyes of 55 patients with type 2 diabetes mellitus(DM)were included in this study. The patients were divided into three groups according to China Clinical Guidelines of DR in 2014, including non-diabetic retinopathy(NDR)group(28 eyes), mild and moderate NPDR group(27 eyes), and severe NPDR group(30 eyes). The control group included 24 normal subjects(35 eyes). The best corrected visual acuity(BCVA)and CT among normal eyes, and eyes with NDR, mild/moderate NPDR and severe NPDR were compared. Data were analyzed using SPSS 18.0. <p>RESULTS: Visual changes: The median LogMAR BCVA visions were 0.00 in control group, 0.10 in NDR group, 0.15 in mild and moderate NPDR group and 0.30 in severe NPDR group, the difference between each group was statistically significant(<i>P</i><0.01). The changes of CT in diabetic patients with different stages of NPDR: CT in the subfoveal area and T1, T3, N1, N3, S1, S3, I1 and I3 sites in the four groups were statistically significant(<i>F</i>=3.975, 3.365, 3.991, 4.290, 6.208, 5.079, 3.234, 2.907, 3.843, <i>P</i><0.05). CT in the mild and moderate NPDR group decreased and were thinner than the control group, but CT in the severe NPDR group increased significantly. <p>CONCLUSION: CT in the mild and moderate NPDR group decreased, but it increased significantly in the severe NPDR group, suggesting DM affected not only retina but choroids as well. The study hypothesizes that the changes of CT may played an important role in the progression of DR and the changes of CT had been initiated before DR. This provides significance in the early diagnosis of diabetic choroidopathy.

Research advances in gene polymorphisms in biological pathways of drugs for asthma / 中国当代儿科杂志

The studies on gene polymorphisms in biological pathways of the drugs for the treatment of asthma refer to the studies in which pharmacogenetic methods, such as genome-wide association studies, candidate gene studies, genome sequencing, admixture mapping analysis, and linkage disequilibrium, are used to identify, determine, and repeatedly validate the effect of one or more single nucleotide polymorphisms on the efficacy of drugs. This can provide therapeutic strategies with optimal benefits, least side effects, and lowest costs to patients with asthma, and thus realize individualized medicine. The common drugs for asthma are β2 receptor agonists, glucocorticoids, and leukotriene modifiers. This article reviews the research achievements in polymorphisms in biological pathways of the common drugs for asthma, hoping to provide guidance for pharmacogenetic studies on asthma in future and realize individualized medicine for patients with asthma soon.

Bone mesenchymaI stem ceIIs and chondroitinaseABC on photoreceptor apoptosis in degenerated retina of rats / 国际眼科杂志(Guoji Yanke Zazhi)

· AlM: To study the effect of bone mesenchymal stem cells ( BMSCs ) and chondroitinaseABC ( ChABC ) on photoreceptor apoptosis in the retina of sodium iodate-induced rats. ·METHODS:Forty Sprague Dawley rats ( SD rats) were intraperitoneally injected with NalO3 (30g/L, 100mg/kg) to establish the retinal degeneration models ( postnatal 28d).These rats were devided into 4 groups.Group A was not injected, group B was injected with BMSCs, group C was injected with BMSCs and ChABC, and group D was injected with phosphate buffer saline ( PBS).After 28d, subretinal injection were applied. Hematoxyln - eosinstaining ( HE ) , tunel and immunohistochemistry were performed at 21d after subretinal injection. · RESULTS: Photoreceptor number and photoreceptor apoptosis rate of B and C groups were more than those of A and D groups, and there was significant difference statistically ( P 0.05 ) .Glial fibrillary acidic protein ( GFAP) was expressed by BMSCs after intraocular injection. · CONCLUSlON: BMSCs and ChABC injected into subretinal space may alleviate photoreceptor apoptosis so as to protect retinal photoreceptor cells in degenerated rats.

Adenovirus-mediated VEGF165 gene transfer has neuroprotective effects in neonatal rats following hypoxic-ischemic brain damage / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the protective effects of adenovirus-mediated vascular endothelial growth factor (Ad-VEGF)165 gene transfer against hypoxic-ischemic brain damage (HIBD) in neonatal rats.</p><p><b>METHODS</b>Ad-VEGF recombinant adenovirus was constructed by bacterial homologous recombination technology. Seven-day-old Sprague-Dawley rats were randomly assigned to 4 groups: sham-operated (n=20), HIBD (n=25), buffer-treated (n=20), and Ad-VEGF-treated (n=25). The HIBD model was prepared by permanent occlusion of left common carotid artery, followed by exposure to 8% oxygen for 2 hrs. In the Ad-VEGF-treated and the Buffer-treated groups, 2 microL recombinant adenovirus suspension or buffer was injected into the left sensorimotor cortex of the rat brain 3 days after HIBD. Seven days after transplantation, VEGF165 mRNA expression was detected using RT-PCR. Neuronal apoptosis was detected by the terminal deoxynucleotidyl transferase-mediated biotinylated deoxyuridine triphosphate nickel end labeling (TUNEL). CD34 and VEGF protein were detected using immunohistochemistry. Microvascular density in the cerebral cortex was measured based on CD34 positive cells. A radial arm maze test was performed from 30 postnatal days to evaluate long-term learning and memory functions. At 35 postnatal days, the rats were sacrificed for cerebral histological examinations by hematoxylin and eosin.</p><p><b>RESULTS</b>The expression of VEGF165 mRNA increased in the Ad-VEGF-treated group more than in the untreated HIBD and the buffer-treated groups (p<0.05). The number of apoptotic neurons was less in the Ad-VEGF-treated group compared with that in the untreated HIBD and the buffer-treated groups (p<0.05). Microvascular density and VEGF positive cells increased in the Ad-VEGF-treated group compared with that in the untreated HIBD and the buffer-treated groups (p<0.05). In the radial arm maze test, the Ad-VEGF-treated group had more improved achievements than the HIBD and the buffer groups (p<0.05). Neuronal degeneration and necrosis were lessened in the Ad-VEGF-treated group compared with the HIBD and the buffer groups.</p><p><b>CONCLUSIONS</b>Ad-VEGF gene transfer can increase the expression of VEGF mRNA and VEGF protein, decrease neuronal apoptosis, and increase angiopoiesis in the brain. This attenuates brain damage and improves long-term learning and memory functions in neonatal rats after HIBD.</p>