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OBJECTIVE@#To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome.@*METHODS@#Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing.@*RESULTS@#The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and small mandible. Genetic testing found that he had carried compound heterozygous c.1068+3A>C and c.1069-1G>C variants of the BLM gene, both of which were unreported previously.@*CONCLUSION@#Bloom syndrome is mainly characterized by severe growth retardation in infancy. The novel variants have expanded the variant spectrum of the BLM gene.
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Vitamin A plays a significant role in maintaining normal metabolism, cell differentiation, reproduction, vision and anti-infection. As a major food source of vitamin A for infants, the level of vitamin A in breast milk is highly important. Recent studies have shown that vitamin A levels in breast milk varied significantly in different stages of lactation, populations, regions and gestational ages at delivery. Moreover, studies demonstrated that it was also affected by many factors, such as maternal serum vitamin A levels and amounts of supplements during pregnancy, maternal vitamin A intake during lactation, maternal diet, high or low risk pregnancy, and vitamin A reservation in maternal liver. It is vital to understand the level of vitamin A in breast milk and its influencing factors to improve breast-feeding.
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<p><b>OBJECTIVE</b>To summarize the clinical characteristics, laboratory findings and prognosis of patients with Down syndrome-related acute leukemia (DS-AL).</p><p><b>METHODS</b>The clinical data, laboratory findings, chemotherapy and prognosis of 21 children with DS-AL were analyzed.</p><p><b>RESULTS</b>Most of the children had disease onset of leukemia at 1 to 5 years of age (85.7%), and acute myeloid leukemia accounted for 57.1% of these cases; 61.9% of the patients had increased lactate dehydrogenase level by 2 folds or more. Of the 13 cases undergoing echocardiaography, 10 (67.9%) showed abnormal findings, and complex congenital heart disease was common (38.5%). Six of the children received chemotherapy and complete remission was achieved in 4 cases; 2 patients died of infection, and the treatment-related mortality was 33.3%. The 2 patients receiving reduced intensive chemotherapy have so far had event-free survival for 21 and 43 months.</p><p><b>CONCLUSION</b>Acute myeloid leukemia is the most common subtype of DS-AL. Patients with DS-AL are sensitive to chemotherapy and the prognosis was favorable with reduced intensive chemotherapy.</p>
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Child, Preschool , Humans , Infant , Antineoplastic Combined Chemotherapy Protocols , Disease-Free Survival , Down Syndrome , Leukemia, Myeloid, Acute , Drug Therapy , Prognosis , Remission InductionABSTRACT
Objective To explore the outcome of brain derived neurotrophic factor(BDNF) and parvalbumin (PV) positive neurons after hyperbaric oxygen intervention for the valproic acid(VPA) autism rats in hippocampal CA1 region.Methods The animal model of autism was established by the methods of Schneider and Przewlocki.Animal model groups of autism were obtained in male offspring of the Wistar rats that received intraperitoneal injection of 600 mg/kg VPA on the 12.5 day after pregnancy according to the eye opening time,behavior,weaning weight and the learning and memory abilities which were evaluated by the Y electricity maze test on the 28th day after birth.Forty-eight male VPA autism rats were randomly divided into high-pressure high-oxygen group,high-pressure air group and normal pressure high-oxygen group and normal pressure air group(n =12,each group).Normal control group was obtained in male offspring of Wistar rats that received intraperitoneal injection of equivalent physiological saline in the same period (n =12).Using the immunohistochemistry methods and image analysis to examine the number of BDNF and PV positive neurons in hippocampal CA1 region of different groups.Results The number of BDNF positive neurons in normal pressure air model group was more than that in the normal pressure air control group,with statistical difference between them(5.00 ± 1.60 vs 3.00 ± 1.04,t =3.633,P =0.001).The number of the PV positive neurons in the normal pressure air model group was more than that of the normal pressure air control group,with statistical difference between them (5.33 ± 0.99 vs 2.83 ± 1.29,t =5.369,P =0.000).The number of the PV positive neurons in the high-pressure high-oxygen group was less than that in the normal pressure air model group,with statistical difference between them (3.33 ±0.99 vs 5.33 0.99,t =4.975,P =0.000).The number of the PV positive neurons in the high-pressure highoxygen group was less than that in the high-pressure-air model group (3.33 ± 0.99 vs 4.67 ± 1.92,t =-2.138,P =0.044).Conclusions The pathogenesis of autism may be related to the expression level of BDNF and PV in the hippocampal CA1 region and this may serve as the mechanism of hyperbaric oxygen intervention of autism animal model for effective treatment.
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<p><b>OBJECTIVE</b>This study explored the subjective quality of life in children with Tourette syndrome (TS) in order to provide a basis for more effective interference of TS.</p><p><b>METHODS</b>A total of 174 children with TS (≥ 8 years old) and 186 aged-matched healthy children as controls were enrolled. The subjective quality of life was investigated by a case-control study.</p><p><b>RESULTS</b>The total score of subjective quality of life in the TS group (156.6 ± 21.1) was lower than that in the control group (164.2 ± 21.2; P<0.01). The scores of family life, school life, cognitive component, anxiety experience and depression experience (19.1 ± 3.5 vs 20.7 ± 3.0, 24.1 ± 4.4 vs 26.6 ± 3.2, 90.6 ± 13.3 vs 97.9 ± 15.3, 24.0 ± 4.6 vs 25.1 ± 3.1 and 23.8 ± 4.4 vs 24.7 ± 3.5) in the TS group were lower than those in the control group (P<0.05). The correlation analysis showed that the total score of subjective quality of life in children with TS was negatively related to the age, the course of disease, the severity of symptoms, the total score of child behavior problem and family conflict (r=-0.432, -0.213, -0.869, -0.137, -0.257; P<0.01), while it was positively related to family active-cultural orientation (r=0.084, P<0.01). The multiple step regression analysis indicated that the factors influencing the subjective quality of life in children with TS included the severity of symptoms, age, family conflict and family active-cultural orientation (β'=-0.787, -0.171, -0.109, 0.106; P<0.01).</p><p><b>CONCLUSIONS</b>The subjective quality of life is not well in children with TS. It is important to control clinical symptoms and improve family environment for the improvement of the subjective quality of life in children with TS.</p>
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Adolescent , Child , Female , Humans , Male , Case-Control Studies , Family , Quality of Life , Tourette Syndrome , PsychologyABSTRACT
Objective:To explore the effects of low birth weight on temperament and behavior prob-lems of children aged 2~3 years. Methods:50 low birth weight (LBW) children and 380 normal birth weight (NBW) children were investigated and assessed by Achenbach's children behavior checklist and tod-dler temperament questionnaire. Results:①Temperament: Independent t-tests identified that NBW children were significantly more active than LBW children(t=2.192, p=0.029). No significantly difference of tempera-ment distributing was found between LBW children and NBW children (p=0.943). ②Behavior problems: In-dependent t-tests identified that NBW children had more sleep problems than 1LBW children(t=2.20,P=0.031). There was more behavior problems of social withdraw in LBW children than NBW children (? 2 =5.427,p=0.02). Conclusion:LBW Children were less active than NBW children and they had high incidences in behavior problems of social withdraw.