ABSTRACT
ObjectiveTo discuss the diagnostic methods of global developmental delay caused by 10q24.3 heterozygous loss. MethodsA retrospective analysis was conducted on the clinical data of one child with global developmental delay， and the results of low depth whole-genome copy number variation sequencing （CNVseq） and family whole exome sequencing （WES） of the child and his parents. ResultsThe patient was a 10-month-old male with developmental retardation in four areas， with some special features （ocular hypertelorism， strabismus， flat nose bridge， protruding forehead， cleft palate， high palatal arch， etc.） and hypotonia of limbs. The CNVseq and WES test showed that the patient had new 10q24.3 heterozygosis loss. Because this region contains the gene SUFU associated with basal cell nevus syndrome and the gene CNNM2 associated with hypomagnesemia， seizures， and mental retardation， and the gene TRIM8 associated of Focal segmental glomerulosclerosis with neurodevelopmental syndrome， we speculated that the cause of the disease in the child was highly related to the heterozygosity deletion of SUFU gene and CNNM2 gene and TRIM8 gene. ConclusionGenetic testing should be improved as soon as possible for children with global developmental delay and special facial manifestations， so as to make clear diagnosis and to judge prognosis.
ABSTRACT
The etiology, pathology, clinical features and prognosis of megalosplenic advanced schistosomiasis have their specific features, and therefore, the perioperative management of this disorder has special countermeasures. The review analyzes the difficult problems in the perioperative management of megalosplenic advanced schistosomiasis, including ultra - low platelet counts, extensive and severe adhesive splenomegaly, massive hemorrhage during surgery and portal vein thrombosis, and proposes countermeasures to tackle these problems, with aims to guide the clinical treatment and cure of schistosomiasis, thereby improving the prognosis, reducing complications and improving the quality of life.
ABSTRACT
<p><b>OBJECTIVE</b>To verify the efficacy on autism treated with scalp acupuncture for regaining the consciousness and opening the orifice in children.</p><p><b>METHODS</b>Seventy cases of child autism were divided into an observation group (30 cases) and a control group (40 cases). In observation group, the cases were treated with scalp acupuncture for regaining the consciousness and opening the orifice, in combination with music therapy and structure education method. Scalp acupuncture was applied to intelligent nine needles (frontal five needles, Sishencong (EX-HN 1)), affection area, heart and liver area, once a day, at the interval once every one week. Totally, 60 treatments made one session. In control group, music therapy and structure education method were applied simply. Clancy Autism Behavior Scale, Childhood Autism Behavior Scale (CARS), Autism Behavior Checklist (ABC) and Gesell Developmental Scale (social adaptive behaviors and language development) were adopted to assess the scores before treatment and after 1 session of treatment.</p><p><b>RESULTS</b>After treatment, the scores in Clancy Autism Behavior Scale, CARS and ABC were lower apparently in observation group as compared with those before treatment (all P < 0.01), and the scores in Clancy Autism Behavior Scale and ABC were lower than those in control group (both P < 0.01). In observation group, the scores of social adaptive behavior scale and language development scale were improved obviously after treatment (both P < 0.01), which were all higher than those in control group (both P < 0.01). In observation, between the group aged from 4 to 6 years and the group aged from 2 to 3 years, the value differences in Clancy Autism Behavior Scale, ABC and social adaptive development scale did not present statistical significance in group comparison before and after treatment (all P > 0.05).</p><p><b>CONCLUSION</b>Scalp acupuncture for regaining the consciousness and opening the orifice can significantly improve the efficacy on autism, effectively relieve child autism symptoms and enhance the intelligence, language ability and social adaptive ability. Moreover, the efficacy cannot be impacted by child's age.</p>