Adolescent ; Adult ; Child ; Female ; Hematopoietic Stem Cell Transplantation ; adverse effects ; methods ; Humans ; Infection ; etiology ; therapy ; Lymphoma ; microbiology ; surgery ; Male ; Middle Aged ; Young Adult

Objectives To observe the changes of magnetic resonance imaging(MRI) during the course of treatment in hepatolen-ticular degeneration (HLD) and to evaluate its related factors.Methods Sixty - three patients with HLD received routine SE sequence MRI of brain and liver.Twenty - two patients with abnormal MRI in 42 patients and each of them had 2-4 times of serial MRI ex-aminations at interval of 1.0- 1.5 year.Results Ten patients had lesion in both brain and liver in 22 patients. Nine patients only in brain, 3 patients in liver.The major lesions disappear or decrease after rational treatments. There were only slight or no changes of MRI abnormalities in patients receiving treatments or age of patients was over 15 year old. Abnormal MRI findings shown again after stopped treatments over 2 months. In such cases, the clinical and MRI improvements were slow.The rate of clinical and MRI improvement in patients with adequate treatment were markedly higher than patients with inadequate treatment.Conclusions Liver and brain lesion will show in MRI disappear after adequate treatment;There are only slight or no change or showing again in MRI abnormalities in pa-tients with inadequate treatments compared with poor clinical improvement. MRI is beneficial to understanding therapeutic effect and prognosis of HLD.

Child ; Eosinophilia ; complications ; diagnosis ; therapy ; Fasciitis ; complications ; diagnosis ; therapy ; Humans ; Male ; Myositis ; complications ; diagnosis ; therapy

Objective:To analyze the clinical features and genetic factors of neonatal 17β-hydroxysteroid dehydrogenase type10 (HSD10) deficiency.Methods:The clinical characteristics and genetic test results of a child with HSD10 deficiency coming from Children′s Hospital of Nanjing Medical University in April 2019 were retrospectively analyzed.The keywords" 17β-hydroxysteroid dehydrogenase type 10 deficiency" or " 2-Methyl3-Hydroxybutyryl-CoA dehydrogenase deficiency" or " HSD10" , etc.were searched in various databases, including CNKI, Wanfang, Weipu, Embase and PubMed to review the cases collected from all published data until May 31, 2020.Results:The patient was a newborn male who developed symptoms on the first day after birth.The main signs were metabolic acidosis, increased blood ammonia and lactate, and hypotonia.Trio whole exom sequencing in the patient and his parents identified hemizygous NM001037811: c.650G>A, p.R217Q in the HSD17B10 gene that is inherited from the mother.Since the child died on the third day after birth, no further central nervous system examination was performed.The mother of the child has intellectual disability, the sibling sister is normal and the HSD17B10 locus is wild type.By lite-rature reviewing, 5 newborn cases with clear medical records and genetic test results were listed.All patients were male, and had onset of HSD10 deficiency within 1 week after birth.The main phenotypes include metabolic acidosis (increased blood ammonia and lactate), hypoglycemia, hypotonia, and convulsions.All 6 children died in early infancy.The corresponsive HSD17B10 variants were c. 740A>G/p.N247S, c.677G>A/p.R226Q, c.257A>G/p.D86G and c. 650G>A/p.R217Q, which did not indicate the hot spots of mutation. Conclusions:HSD10 deficiency in the neonatal period is relatively rare.The clinical diagnosis is difficult due to the serious condition and short course of the disease.Severe metabolic acidosis, hypotonia, and convulsions in neonatal patients are the main reasons for the poor prognosis, which can be attributed to the hemizygous variation and heterogeneity of the mutation site in male patients.c.650G>A may be closely associated with severe neonatal HSD10 deficiency, but the molecular biological mechanism needs to be further clarified.HSD10 deficiency has a poor prognosis and lacks effective treatment.

This paper presents a new kind of collecting and processing system of the sound signal of larynx where double sound cards and software filter are used. The installation of the double sound cards and processing proposal of software are mainly discussed and a new kind of ADC method of dual-channel sound signal is put forward in this paper. This system has the feature of reliable performance, simple installation and easy maintenance.
Algorithms ; Equipment Design ; Humans ; Larynx ; physiology ; Microcomputers ; Signal Processing, Computer-Assisted ; instrumentation ; Software ; Sound ; Speech Production Measurement ; instrumentation

The expressions of StAR (steroidogenic acute regulatory protein) mRNA in testes from 7,14,23 and 37 day-old piglets were studied by tissue in situ hybridization. The results indicated that in the testes of piglets, StARmRNA was expressed in Leydig cells of pig testes. The expression level of StARmRNA was lower in 7 days piglets but higher in 14,23,37 days. The results indicated that StAR gene played an important role in steroid biosynthesis.

Objective To evaluate the pattern of energy metabolism and nutrients intake in patients with chronic viral hepatitis and posthepatitic cirrhosis to effectively direct their nutrition therapy.Methods Resting energy expenditure (REE) was measured with open-circuit indirect Jorimetry in 60 patients with chronic viral hepatitis and 60 patients with posthepatitic cirrhosis.Their normal basal energy expenditure (BEE) was predicted by Harris-Benedict equation and energy intake (EI) was determined by diet recall. Correlation between REE and indicators for nutrition assessment was analyzed.Results REE was (77? 21) kJ?kg~(-1)?d~(-1) in 60 patients with pusthepatitic cirrhosis,significantly lower than BEE[(95?16) kJ? kg~(-1)?d~(-1)(P0.05,and their EI was (127?34) kJ?kg~(-1)?d~(-1),1.41?0.43 times as REE,in which PROI was (1.02?0.29) g?kg~(-1)?d~(-1),1.31?0.61 times as PROE (0.87?0.34) g?kg~(-1)?d~(-1),also indicating a negative nitrogen balance (-2.02?4.07).REE,EI and intake of three nutrients,serum level of albumin and prealbumin (PA) and body weight significantly decreased in patients with posthepatitic cirrhosis,as compared to those in patients with chronic viral hepatitis (P

? AIM: To investigate health - related quality of life ( HRQOL ) state in children with intermittent exotropia using the Intermittent Exotropia Questionnaire ( IXTQ ) and research the effect of strabismus surgeries on HRQOL.?METHODS: In this prospective study, we chose 42 patients with intermittent exotropia ( aged 5-17 years) as case group, and 42 patients ( aged 5-17 years) as control group. The Chinese IXTQ was used to evaluate HRQOL at 1d preoperatively and 3mo postoperatively in the two groups, and the differences of the two groups before and after surgery and the effect of strabismus surgery on HRQOL were analyzed.?RESULTS:The scores of HRQOL in control group were statistically significant higher than that of case group ( P<0. 01 ). Every items showed a statistically significant difference except on “Kids tease me because of my eyes”and “ My eyes make it hard for me to make friends” ( P<0.05). At 3mo postoperatively ,the scores of HRQOL in case group significantly increased than that at 1d preoperatively(P<0. 01). Child IXTQ of case group was lower on every items than those of control group after surgery(P<0. 05).?CONCLUSION:Intermittent exotropia could affect the HRQOL in psychosocial and visual functional. The greatest HRQOL concerns for children with intermittent exotropia were shutting one eye when sunny, waiting for their eyes to clear up instead of taunts and friendship. The surgical treatment could improve HRQOL in children with intermittent exotropia.

G,the noval insertion mutation of c.2298_2299insC is identified in Chinese patients.

OBJECTIVETo compare the differences in the therapeutic effect on irritable bowel syndrome (IBS) between acupuncture at Tianshu (ST 25) and Dachangshu (BL 25) and western medication with Trimebutine Maleate.

METHODSForty cases were divided randomly into an acupuncture group and a western medication group, 20 cases in each one. In acupuncture group, acupuncture was applied to Tianshu (ST 25) and Dachangshu (BL 25). Ziwu Daojiu needling technique was adopted, once daily. In western medication group, Trimebutine Maleate capsule was administered, 2 capsules in each time, 3 times per day. The assessment on the therapeutic effect was performed in 4 weeks of treatment in two groups.

RESULTSAs compared with those before treatment, the time of abdominal pain, the frequency of abdominal pain, the morbidity of abnormal stool appearance, the morbidity of defecation abnormality, the morbidity of mucus stool and the score of bloating or abdominal pain on bowel movement were all reduced after treatment in two groups (all P < 0.01). The results in acupuncture group were much more significant than those in western medication group (the total score: 16.70 +/- 2.40 vs 15.70 +/- 3.01, P < 0.01). The total effective rate in acupuncture group was 95.0% (19/20), which was superior to that of 70.0% (14/20) in western medication group (P < 0.05).

CONCLUSIONAcupuncture at Tianshu (ST 25) and Dachangshu (BL 25) may remarkably relieve the clinical symptoms of IBS and its efficacy is superior to that of oral medication with Trimebutine Maleate.

Acupuncture Therapy ; Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Irritable Bowel Syndrome ; drug therapy ; therapy ; Male ; Middle Aged ; Trimebutine ; therapeutic use ; Young Adult