Acute Disease ; Adult ; Female ; Humans ; Male ; Middle Aged ; Organophosphate Poisoning ; Respiratory Insufficiency ; blood ; chemically induced ; Tumor Necrosis Factor-alpha ; metabolism

Objective To explore the effect of?-3 fish oil fat emulsion on the release of pro-inflam- matory cytokines in patients with systemic inflammatory response syndrome(SIRS).Methods Forty patients with SIRS in the intensive care unit(ICU)from June 2006 to June 2007 were randomly divided into routine total parenteral nutrition(TPN)group(group A,20 cases)and?-3 fish oil fat emulsion+TPN treatment group(group B,20 cases).All the patients received treatment of parenteral nutrition with equal nitrogen content and calories.The caloric value given was 83.68 kJ?kg~(-1)?d~(-1),with 0.2 g?kg~(-1)?d~(-1)of nitrogen. Group A patients received routine TPN,and group B patients received TPN with?-3 fish oil fat emulsion 1-2 ml?kg~(-1)?d~(-1),and both regimes lasted for 7 days.The levels of serum tumor necrosis factor-?(TNF-?),interleukin-1(IL-1)and IL-6 were checked before the treatment,and on the 1st,3rd and 7th day after the beginning of the treatment.The duration in ICU,the incidence of multiple organ dysfunction syndrome(MODS)and the mortality rates in 28 days of the two groups were also assessed.Results Compared with the routine treatment group,the levels of serum TNF-?,IL-1,and IL-6 in the?-3 fish oil fat emulsion+TPN treatment group were lower markedly(P0.05).Conclusion The emulsion of?-3 fish oil fat seems to have a protective effect on patients with SIRS through decreasing the levels of serum TNF-?,IL-1 and IL-6,thus reducing the incidence of MODS,shortening the ICU stay, and increasing the survival rate of serious patients.

Objective To retrospectively investigate the causes , location and the duration of hospital stays of the hospitalized patients with hard-to-heal wounds so as to provide data guidance for the prevention and research of these diseases. Methods Clinical data of hospitalized patients with hard-to-heal wounds in plastic surgery center of General Hospital of Guangzhou Military Command were collected from June , 2011 to December, 2013. Whether ulceration was recovered in the patients with skin tissue defect after 2 months treatment was regarded as the standard to screen the patients with hard-to-heal wounds. The causes , location, age and the duration of hospital stays of the hospitalized patients with hard-to-heal wounds were investigated by retrospective case-control method. Chi-square test and t-test were used in analyzing the investigation. Results 2 136 cases, aged from 20 to 86, were treated in plastic surgery center of the hospital. 120 cases have hard-to-heal wounds, which constituted 5.62% of all hospitalized patients. (1) Metabolic disease was the main causes of wound (43.3%), followed by wound infection and tumor (20.0% for each) (χ2 = 62.917, P < 0.01). ( 2 ) The peak age for patients with hard-to-heal wounds was 40 to 60 years old patients , followed by patients′age from 60 to 80 years. (3) The mostly like hard-to-heal wounds was on limbs (61.6%), especially on the foot (38.3%) (χ2 = 17.546, P = 0.002). (4) The average days for hospitalization of in the plastic surgery center were (7.41 ± 8.98), while the average days for hospitalization of the patients with years were (33.21 ± 28.27)(t = -9.968, P < 0.05). Conclusion The average diagnostic age of patients with hard-to-heal wounds is the middle and old aged patients. Chronic skin ulcers, which often occurs in a limb, seriously affects a person′s ability to move , which can prolong hospital stays , causing serious burden for the families of patients and the society.

Objective To analyze the clinical features of tuberous sclerosis (TS) patient with infantile spasm and investigate its treatment efficacy with rapamycin. Methods The clinical manifestations of a tuberous sclerosis patient with infantile spasm before and after the treatment with rapamycin were retrospectively analyzed; and the related literature was reviewed. Results Dermatological abnormalities were evidcnt in the child and mainly shown as hypomelanotic macules.His neurological abnormalities included infantile spasm and backward psychomotor development.Head MRI and CT had abnormal changes.Treatment with rapamycin 3 months later disclosed improvement in many ways: the convulsion seizure of the patient decreased apparently, and MRI showed decreased subependymal tuber size; meanwhile,the intellectual development of the patient improved obviously,and there was no adverse reaction. Conclusion Rapamycin,enjoying good effect,would be a new and safety method to treat TS patients with infantile spasm.

The opening of laboratories in universities is one of important parts in teaching reform and it is necessary for bringing up high-qualified students.Combined with the practical teaching,we have a primary discussion with the problems of the laborato- ry opening and put forward some suggestions and measures.

OBJECTIVETo investigate the association between a new polymorphism (IVS3-20 T>C GenBank accession number: AY463003) in intro 3 of the parkin gene and the risk for Parkinson's disease (PD) in Chinese, particularly the relation between this polymorphism and the age of onset of PD patients.

METHODSPD was diagnosed according to the criteria of Core Assessment Program for Intracerebral Transplantations(CAPIT). All patients and controls were examined by two neurologists and were of the Han ethnic background. Polymerase chain reaction (PCR), denaturing high performance liquid chromatography (DHPLC) and sequencing were used to determine the genotype of each subject.

RESULTSA total of 312 PD patients (including 99 early-onset PD patients and 213 late-onset PD patients) and 236 controls were studied. The C/C homozygote was not found in this study. Chi-square analysis revealed that the frequencies of the C allele and T/C genotype were higher in total PD group but were not statistically different from those of the control group (P=0.6350 and 0.6331, respectively). After being stratified by age of onset, the frequency of T/C genotype was significantly higher (OR=3.52, 95%CI 0.97-13.13) in PD group with an onset age at or below 45 years old (7.07%), compared with that in the control group (2.12%). Similarly, C allele was much higher (OR=3.42, 95%CI 0.96-12.57, P=0.0276) in the early-onset PD group (3.90%) than that in the control group (1.06%). The linear trend analysis showed that both the T/C genotype and C allele increased significantly in the PD group with the increase of the onset age [chi-square(trend of Genotypes)=4.414, P=0.036; chi-square(trend of Alleles)=4.344, P=0.037]. On the other hand, there was no difference in the frequencies of allele and genotype between the late-onset PD patients and controls.

CONCLUSIONThe above results suggest that the parkin IVS3-20 T>C polymorphism might be a genetic risk factor for early-onset PD in Chinese.

Adult ; Age Distribution ; Aged ; Aged, 80 and over ; Base Sequence ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Parkinson Disease ; genetics ; Polymorphism, Genetic ; Sex Distribution ; Ubiquitin-Protein Ligases ; genetics

A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.
Base Sequence ; Developmental Disabilities ; diagnosis ; genetics ; Fingers ; abnormalities ; Humans ; Infant ; Intellectual Disability ; diagnosis ; genetics ; Male ; Microcephaly ; diagnosis ; genetics ; Muscle Hypotonia ; diagnosis ; genetics ; Mutation ; Myopia ; diagnosis ; genetics ; Neutropenia ; complications ; genetics ; psychology ; Obesity ; diagnosis ; genetics ; Psychomotor Disorders ; diagnosis ; etiology ; genetics ; Retinal Degeneration ; diagnosis ; genetics ; Vesicular Transport Proteins ; genetics

Objective To raise the awareness of childhood narcolepsy. Methods We analyzed the clinical data of 32 children with narcolepsy and review the literature. Results All the patients manifested as excessive daytime sleepiness with irresistible sleep attacks.Cataplexy appeared in 26 cases (81.3％),hypnagogic hallucination in 11 cases (34.4％),and sleep paralysis in merely 2 cases (6.25％).Daytime sleepiness was the first symptom in most cases.Common features included night sleep disorder,emotional disorder,excessive weight gain,and earlier puberty.Owing to the young age and short duration,a few children could have the false negative multiple sleep latency test (MSLT) results.Conclusion Excessive daytime sleepiness with irresistible sleep attacks and cataplexy are the typical clinical manifestations of Chinese narcoleptic children. A definite diagnosis is established on the comprehensive analysis of symptoms and assistant examination.

OBJECTIVETo investigate the possible association of IVS5-5G>A polymorphism, positioned in the upstream region of exon 5 of PINK1 gene with the risk for sporadic late onset Parkinson disease (LOPD) in Chinese.

METHODSIntronic regulatory sequence analysis was performed using the web-based in-silico analysis. The authors performed an association study using a case-control series (comprising 382 LOPD patients and 336 controls, Chinese of Han ancestry). Genotyping was performed by PCR-based denaturing high performance liquid chromatography (DHPLC) combined with sequencing analyses. Allele and genotype frequencies were compared by the Chi-square test.

RESULTSIn-silico analysis showed that the intronic IVS5-5G>A polymorphism was located within acceptor site of exon 5 and may be the functional single polymorphism (SNP) in the regulatory region with impact on the splicing of PINK1 gene. Those result yielded statistical significant evidence for the association of PINK1 IVS5-5G>A polymorphism with risk for typical PD in Chinese Han population (OR=1.95, 95%CI: 1.29-2.94, P=0.0012). Homozygote of A allele may have increased risk for LOPD (OR=2.45, 95%CI: 1.27-4.72, P=0.009).

CONCLUSIONThe authors provide the first evidence that the common genetic variation PINK1 IVS5-5G>A may contribute to the risk of LOPD in Chinese population.

Age Distribution ; Age of Onset ; Aged ; Aged, 80 and over ; Alleles ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Exons ; genetics ; Female ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Parkinson Disease ; genetics ; Polymorphism, Genetic ; Protein Kinases ; genetics ; Sex Distribution

Adrenal Hyperplasia, Congenital ; genetics ; Chromatography, High Pressure Liquid ; Deoxyribonucleases, Type II Site-Specific ; metabolism ; Female ; Humans ; Point Mutation ; genetics ; Polymerase Chain Reaction ; methods ; Pregnancy