Objective To describe the clinical characteristics of a patient with Gitelman syndrome,and to identify the associated SLC12A3 gene mutations.Methods A suspected case of teenager-onset Gitelman syndrome was observed in our hospital.It was further confirmed by clinical manifestations and auxiliary examination.In addition,direct sequencing for the exons of SLC12A3 gene and CLCNKB gene region was conducted to identify the probable disease-associated mutations.Results The case showed characteristics of hypokalemia,hypomagnesemia,and low level of urinary calcium and onset by age of 18.By excluding the possibilities of long-term use of thiazide diuretics,laxatives,chronic vomiting and diarrhea,he was finally diagnosed as a case of Gitelman syndrome.Furthermore,by Sanger direct sequencing,2 coding variations were identified in SLC12A3 gene region,including T304M and L488P.L488P was a new heterozygous mutation.Conclusion Detection of SLC12A3 gene mutation could facilitate the diagnosis of Gitelman syndrome and improve prognosis.

Objective To observe the effect of low arsenic sub-chronic exposure on blood routine test index in rabbits to pave a way for screening early injury of the low arsenic exposure. Methods Twelve healthy male rabbits were randomly divided into four groups. They were administrated with As at the concentration of 0(control), 10, 50 and 250 μg/L in the drinking water. Blood samples were collected from the vein of the ear edge in 8 weeks, and blood test routine including leukocyte (WBC), lymphocyte (LYM), lymphocyte percentage (LYM%), neutrophil (GRA), neutrophil percentage (GRA%), monocyte (MON), monocyte percentage (MON%), red blood cell (RBC), hemoglobin (HGB), hematocrit (HCT), mean corpuscular volume (MCV), mean corpuscular hemoglobin content (MCH), mean corpuscular hemoglobin concentration(MCHC), RDW, platelets(PLT), mean platelet volume(MPV), platelet hematocrit(PCT) and platelet distribution width (PDW), were detected by the ABX-60 hemocyte analyzer. Results Compared with the control group, the WBC, GRA and GRA% increased in 0, 50 and 250 μg/L groups, but there was no significance(P > 0.05). PLT and MPV had a statistical significance in 4 groups(F = 4.07,4.20, all P < 0.05). Compared with the control group[(292.00±16.97)×109/L, (7.10±0.99)fL], PLT decreased in the 250 μg/L group [(221.33±22.50)×109/L] and MPV decreased in the 50μg/L group [(5.57±0.46)fL] significantly (P < 0.05). The other index didn't change obviously. Conclusions Sub-chronic low level arsenic exposure may lead to the change in the blood system. The blood routine test may be considered for early injury of the arsenic poisoning.

OBJECTIVETo summarize the clinical characteristics, laboratory findings and prognosis of patients with Down syndrome-related acute leukemia (DS-AL).

METHODSThe clinical data, laboratory findings, chemotherapy and prognosis of 21 children with DS-AL were analyzed.

RESULTSMost 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.

CONCLUSIONAcute 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.

Antineoplastic Combined Chemotherapy Protocols ; Child, Preschool ; Disease-Free Survival ; Down Syndrome ; complications ; Humans ; Infant ; Leukemia, Myeloid, Acute ; complications ; drug therapy ; Prognosis ; Remission Induction

BACKGROUNDTo find the pathogenic agents of aseptic meningitis prevalent in Xuzhou of Jiangsu province in 2001.

METHODSThe enterovirus (EV) was cultured from CSF of the patients and identified with anti-serum by neutralization test. Neutralization titer of antibody in paired sera from meningitis children was determined. EV RNA was detected by RT-PCR.

RESULTSFour strains of Coxsackievirus B5, 2 strains of Coxsackievirus B3 and 1 strain of Echovirus 7 were isolated from 22 CSF specimens. The isolation rate of virus was 31.8% (7/22), 21 CSF were tested by RT-PCR, the positive rate of EV RNA was 52.4% (11/21); 57.9% (11/19) of patients paired-sera had over 4 folds antibody rise or became seroconverted.

CONCLUSIONEnterovirus was the pathogenic agent of aseptic meningitis prevalent in Xuzhou of Jiangsu province, the main serotype of the virus was Coxsackievirus B5.

Antibodies, Viral ; immunology ; Child ; Child, Preschool ; China ; epidemiology ; Coxsackievirus Infections ; cerebrospinal fluid ; epidemiology ; virology ; Echovirus Infections ; cerebrospinal fluid ; epidemiology ; virology ; Enterovirus ; genetics ; immunology ; isolation & purification ; Humans ; Infant ; Meningitis, Aseptic ; cerebrospinal fluid ; epidemiology ; virology ; Microscopy, Electron ; Neutralization Tests ; Prevalence ; RNA, Viral ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Virion ; isolation & purification ; ultrastructure

BACKGROUND: Patients with osteoporosis are prone to develop fractures, and moreover some patients are first diagnosed with osteoporosis because of a fragility fracture. Therefore, it is critical to understand the correlation between osteoporotic medications and fracture healing. OBJECTIVE: To summarize the effect of anti-osteoporosis medications on osteoporotic fracture healing in order to promote its clinical application. METHODS: A computer-based online search of PubMed, CNKI, VIP and WanFang databases between January 2012 and July 2016 was performed to retrieve the related articles with the keywords of "osteoporotic fracture, healing, bone nutrition supplements, anti-resorptive agents, anabolic agents, dual effect agents, new targeted agents" in English and Chinese, respectively. Literature concerning the effect of anti-osteoporosis medications on fracture healing was selected, and the articles published lately in authoritative journals were preferred. RESULTS AND CONCLUSION: Most of anti-osteoporotic medications have no harmful influence on fracture healing, including bone nutrition supplements (calcium and vitamin D), anti-resorptive agents (bisphosphonate, denosumab, estrogen and selective estrogen receptor modulators, statins and calcitonin), anabolic agents (parathyroid hormone), and dual effect agents (strontium ranelate). Calcium and vitamin D are the basic drugs; anti-resorptive agents exert overt anti-osteoporotic effect; and the new targeted agents like cathepsin K inhibitor and sclerostin monoclonal antibody provide more choices for the therapy of osteoporotic fracture. Partial anti-osteoporotic agents inhibit the viability of osteoclasts, so their early application may be against fracture healing. The optimal time of anti-osteoporotic medications and the effect on acute and non-acute osteoporotic fractures need to be further explored.

Objective To investigate the effect of glycemic control on progress of left ventricular structure and diastolic dysfunction in adolescents with type 1 diabetes mellitus (T1 DM).Methods A total of 36 T1DM adolescent patients(observation group) and 36 age-matched healthy controls (healthy control group),who consulted doctors in Chengdu Women and Children's Central Hospital between Dec.2009 and Dec.2010,were recruited into the study.Patients in the observation group were performed standard treatment for glycemic control.All patients were followed-up for 2 years.At the end of the study,the patients in observation group were divided into 3 subgroups according to the average HbA1 c level:excellent glycemic control group [glycosylated hemoglobin (HbA1 c) ＜ 7.6％],good glycemic control group(7.6％ ≤HbA1c≤9.0％) and bad glycemic control group(HbA1c ＞9.0％).All of the subjects were evaluated by means of echocardiography for assessment of left ventricular structural and functional parameters.Results Left ventricular posterior wall depth (LVPW),left ventricular mass index (LVMI) and isovolumic relaxation time (IVRT) were elevated,while E/A was decreased in the observation group compared with the healthy control group at baseline (all P ＜ 0.05).There was no significant difference between 2 groups in interventricular septum thickness (IVS),left ventricular end-diastolic dimension(LVEDd) and cardiac systolic function(all P ＞ 0.05).Echocardiographic parameters of left ventricular structure and function were unchanged in well-controlled patients.At the end of follow-up,mild-control group and non-control group demonstrated increased IVS,LVPW and LVMI,and exacerbated left ventricular diastolic function in the present of IVRT prolonging and E/A decreasing.Conclusions There is an inclination in T1 DM adolescent patients developing to left ventricular diastolic dysfunction,and improved glycemic control can delay the progress of left ventricnlar hypertrophy,but it can't ameliorate the decreased diastolic dysfunction.Whereas,non-improved glycemic control can accelerate left ventricular remodeling and exacerbate diastolic dysfunction in T1DM adolescent patients.

OBJECTIVETo investigate the quality of life ( QOL) of inpatients with coal workers' pneumoconiosis( CWP) and analyse its influential factors, and to provide a theoretical basis for effective control measures.

METHODSEighty-eight CWP patients in a hospital were included in the study. A questionnaire survey was conducted in them using a self-designed QOL scale. A database was established by software EpiData3.1, and the obtained data were statistically analyzed by software SPSS 16.0.

RESULTSOf the 88 patients, 73( 82.9%) had middle-level QOL, with a mean QOL loss rate of 36.2%; the loss rates of physical function and somatic sensation were the highest ( 44.2% and 41.5%). The patients with stage II CWP had significantly lower physical function than those with stage I and III CWP; the physical function and social function of patients significantly decreased with age; the personal income, household income, and housing condition of the patients had a marked impact on their physical and psychological functions, and the housing condition and education level had a marked impact on their social function. The multivariate analysis showed that old age, low income,and poor housing condition were the main adverse factors for the QOL of inpatients with CWP.

CONCLUSIONThe QOL of inpatients with CWP declines significantly, and their QOL is related to the age, income, and satisfaction with housing condition.

Aged ; Aged, 80 and over ; Anthracosis ; Humans ; Male ; Middle Aged ; Quality of Life

BACKGROUNDThe neurogenic bladder dysfunction caused by spinal cord injury is difficult to treat clinically. The aim of this research was to establish an artificial bladder reflex arc in rats through abdominal reflex pathway above the level of spinal cord injury, reinnervate the neurogenic bladder and restore bladder micturition.

METHODSThe outcome was achieved by intradural microanastomosis of the right T13 ventral root to S2 ventral root with autogenous nerve grafting, leaving the right T13 dorsal root intact. Long-term function of the reflex arc was assessed from nerve electrophysiological data and intravesical pressure tests during 8 months postoperation. Horseradish peroxidase (HRP) tracing was performed to observe the effectiveness of the artificial reflex.

RESULTSSingle stimulus (3 mA, 0.3 ms pulses, 20 Hz, 5-second duration) on the right T13 dorsal root resulted in evoked action potentials, raised intravesical pressures and bladder smooth muscle, compound action potential recorded from the right vesical plexus before and after the spinal cord transaction injury between L5 and S4 segmental in 12 Sprague-Dawley rats. There were HRP labelled cells in T13 ventral horn on the experimental side and in the intermediolateral nucleus on both sides of the L6-S4 segments after HRP injection. There was no HRP labelled cell in T13 ventral horn on the control side.

CONCLUSIONUsing the surviving somatic reflex above the level of spinal cord injury to reconstruct the bladder autonomous reflex arc by intradural microanastomosis of ventral root with a segment of autologous nerve grafting is practical in rats and may have clinical applications for humans.

Anastomosis, Surgical ; Animals ; Atropine ; pharmacology ; Male ; Models, Theoretical ; Rats ; Rats, Sprague-Dawley ; Reflex, Abdominal ; drug effects ; physiology ; Trimethaphan ; pharmacology ; Urinary Bladder, Neurogenic ; physiopathology

OBJECTIVETo observe the effects of antisense RNA of connective tissue growth factor (CTGF) on rat liver fibrosis.

METHODSGene recombinant techniques were used to construct a rat antisense RNA of CTGF recombinant plasmid which could be expressed in eukaryotic cells. The recombinant plasmids were encapsulated with lipofectamine and then transducted into a carbon tetrachloride (CCl4) induced rat liver fibrosis model. Expression of CTGF was assessed by RT-PCR, Western blot and immunohistochemistry. Immunohistochemistry was used to identify type I and III collagens. HE stained liver slides were used for pathological study.

RESULTSThe mRNA and protein expression of CTGF in the fibrotic liver transfected with antisense-CTGF were significantly decreased compared with those of the controls (P<0.01). The depositions of type I and type III collagens were also decreased (P<0.05). Antisense-CTGF also minimized the pathological fibrosis in the rat livers (P<0.01).

CONCLUSIONThe results demonstrate that the antisense RNA of CTGF recombinant plasmid has certain effects in preventing liver fibrosis and makes it a possible candidate for use in future gene therapy.

Animals ; Connective Tissue Growth Factor ; genetics ; Genetic Therapy ; Liver ; pathology ; Liver Cirrhosis, Experimental ; pathology ; Male ; Plasmids ; RNA, Antisense ; genetics ; RNA, Messenger ; genetics ; Rats ; Rats, Sprague-Dawley ; Transfection

Objective To explore the distribution and disease characteristics of influenza virus A in severe pneumonia cases in Nanchang city, so as to provide evidence for clinical prevention and treatment of severe pneumonia cases. Methods The respiratory samples and clinical case data of severe pneumonia cases were collected and the etiology and epidemiology were analyzed in Nanchang from April 2013 to March 2018. Results From April 2013 to March 2018, 261 case patients of severe pneumonia from 17 medical institutions in Nanchang were enrolled. 77 cases was detected as positive for influenza A virus nucleic acid, accounting for 29.50% of the total cases, as follow: 39 cases of A (H1N1pdm) influenza, 13 A (H3), 16 H7N9 and 3 H10N8 avian influenza. Cases were mainly concentrated in winter and spring (from December to May of next year, with median age 48 of years, including 48 males and 31 females. 21 cases of human infection with H7N9/H10N8 avian influenza were reported in Nanchang during 5 years, with the fatality rate of 33.33%. 90.48% (19/21) cases were detected by unexplained pneumonia surveillance system. The median age was 69 years, most of them had underlying diseases and a clear history of poultry contact. Conclusions Nearly 30% of the severe pneumonia cases in Nanchang city were infected with influenza A virus, among which influenza A (H1N1pdm) virus was the main epidemic strain. All deaths were caused by avian influenza virus infection.