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OBJECTIVE@#To explore the clinical and genetic characteristics of a child featuring developmental delay.@*METHODS@#The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father.@*CONCLUSION@#A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.
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Adulto , Criança , Feminino , Humanos , Masculino , Anormalidades Múltiplas/genética , Catarata/genética , Córnea/anormalidades , Hipogonadismo/genética , Deficiência Intelectual/genética , Microcefalia/genética , Mutação , Atrofia Óptica/genética , Sequenciamento do Exoma , Proteínas rab3 de Ligação ao GTP/genéticaRESUMO
The common negative pressure drainage bottle used in the vacuum sealing drainage (VSD) cannot quantitative and automatically cut off. Excessive drainage damages the negative pressure source, causes drainage interruption, so once drainage was continuously performed, medical staff need to closely observe drainage bottle calibration. It was also important to known whether there was a large amount of fresh blood sucked out during continuous drainage because it could lose too much blood. To solve these two problems, we designed a kind of negative pressure drainage device, which volume was constant, with the function of automatic cutting off continuous drainage. It can not only prevent drainage fluid flowing back to the negative pressure source and cause drainage interruption, but also prevent massive blood loss from continued drainage after the hemorrhage. We could benefit from this device, which possess many advantages, such as simple structure, security and reliability. It is worthy promoting in the clinical work.
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<p><b>OBJECTIVE</b>To compare the effects between moxibustion at Guanyuan (CV 4), Shenshu (BL 23), Zusanli (ST 36) and western medication on immune function in children with cerebral palsy.</p><p><b>METHODS</b>A total of 230 children with cerebral palsy were randomly divided into an observation group and a control group, 115 cases in each one. Patients in the observation group were treated with warm moxibustion at Guanyuan (CV 4), Shenshu (BL 23) and Zusanli (ST 36). Patients in the control group were treated with oral administration of pidotimod 10 mL every time. The treatment was given once a day, and 30 days were considered as one session for total 90 days. The changes of T-lymphoctyte subgroups, serum immunoglobulin and development quotient were compared 30 days, 60 days and 90 days into treatment respectively; also the occurrence rate.of disease was observed during 6-month and 12-month follow-up visit.</p><p><b>RESULTS</b>The T-lymphoctyte subgroups (CD3+, CD4+, CD4+/CD8+), serum immunoglobulin (IgG, IgA) and development quotient were significantly improved 30 days, 60 days and 90 days into treatment (P < 0.01, P < 0.05). Regarding the changes of CD3+, CD4+, CD4+/CD4+, IgG, IgA and development quotient, the control group was superior to the observation group 30 days into treatment (all P < 0.05), and the control group was similar to the observation group 60 days into treatment (all P > 0.05), and the observation group was superior to the control group 90 days into treatment (all P < 0.05). There was no significant difference of CD8+ and IgM before and after treatment in two groups (all P > 0.05). The rate of adverse events was 7.0% (8/115) in the observation group, which was lower than 23.5% (27/115) in the control group (P < 0.01); during 6-month and 12-month follow-up visit, the occurrence rate of disease in the observation group was lower than that in the control group (P < 0.05).</p><p><b>CONCLUSION</b>Moxibustion at Guanyuan (CV 4), Shenshu (BL 23) and Zusanli (ST 36) can improve immune function of children with cerebral palsy, which is superior to pidotimod.</p>
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Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pontos de Acupuntura , Paralisia Cerebral , Alergia e Imunologia , Terapêutica , Imunoglobulina A , Alergia e Imunologia , Imunoglobulina G , Alergia e Imunologia , Moxibustão , Subpopulações de Linfócitos T , Alergia e Imunologia , Resultado do TratamentoRESUMO
Aim To explore the role of KATP in the pa-raventricular nucleus in inflammatory pain. MethodsMale Sprague-Dawley rats,250~280 g, were randomly assigned into 5 groups ( each, n =6 ): Normal group, Saline group ( for control, subcutaneous injection of 100 μl of saline into the plantar surface of the left hindpaw) , CFA group ( subcutaneous injection of 100μl of complete freund's adjuvant into the plantar sur-face of the left hindpaw) , Vehicle group ( treated with dimethylsulfoxide), KATP selective agonist group(trea-ted with diaoxide) . Rats in each group were tested for TWL with radiant heat apparatus. Immunofluorescent technique was used to label KATP in PVN and c-Fos in lumber spinal cord. Three days after injected with CFA, a selective KATP agonist, diaoxide, was injected into one side of PVN to test its effect on inflammatory pain and c-Fos expression in lumber spinal cord. Re-sults ① Compared with pre-operation and saline group, rats showed significantly lower TWL on day 1, 3, 7 after injection of CFA;the numbers of KATP posi-tive cells were significantly lower; the numbers of c-Fos positive cells were significantly higher. ② Com-pared with those of vehicle group, TWL and the num-ber of c-Fos in lumber spinal cord were both signifi-cantly lower after injection of diaoxide into one side of PVN. Conclusion KATP in PVN is related to inflam-matory pain.