Investigation and analysis of mental health service resources in Jiangsu Province in 2014-2020 / 公共卫生与预防医学

Objective To analyze and compare the mental health service resources in Jiangsu Province in 2014 and 2020, and to provide suggestions for the rational allocation and setting of mental health resources. Methods The national mental health resource questionnaire compiled by National Health Commission and the information system of Jiangsu provincial severe mental disorders were used to investigate the number, beds, mental health personnel of mental health institutions, and to evaluate the management and service situation of patients with severe mental disorders in Jiangsu Province in 2014 and 2020. The data was analyzed by SPSS 19.0 software. Results Compared with the mental health service resources in 2014, the number of mental health medical institutions increased by 9 in 2020; The number of psychiatric beds increased by 5,936, and the growth rate was 39.55%; The number of psychiatric open beds increased by 5,311, and the growth rate was 27.41%. The bed density increased from 2.43 beds / 10,000 people to 3.08 beds / 10,000 people, with an increase rate of 26.75%. The number of mental health practitioners increased from 8.08/100,000 to 12.27/100,000. In 2020, 37.28% of the hospitals of the second class and above set up psychiatric or psychological clinics in Jiangsu Province. In terms of management services for patients with severe mental disorders, the prevalence rate in 2020 was 0.43%, higher than 0.34% in 2014 (χ2=8441.60, P＜0.05), and the management rate in 2020 was 95.22%, higher than 90.97% in 2014 (χ2=5520.13, P＜0.05). The drug taking rate in 2020 was 81.22%, higher than 57.18% in 2014 (χ2=37254.45, P＜0.05), and all the differences were statistically significant. Conclusion The resources of mental health services in Jiangsu Province have increased, but the number of medical personnel cannot meet the requirements of regional development, and the distribution of mental health resources is unbalanced. It is necessary to reasonably distribute resources and strengthen the training of mental health practitioners.

A case-control study on the risk factors of unintentional injuries among internal-migrant childrenLI Xin-yu, YANG Ya-ming, FEI Gao-qiang, ZHOU Yi-xi, GAO Liu-wei, / 中华疾病控制杂志

Objective To explore risk factors of unintentional injuries among internal-migrant children. Methods A 1 ∶〗1 matched case-control study was conducted between 332 internal-migrant children with unintentional injuries, based on the principle that same class, same gender and age was no more than two years old. The survey was based on the unified questionnaire. Epi Data 3.1 was used to establish database and SPSS 23.0 was used for univariate analysis and multi-conditional Logistic regression analysis. Results Multi-conditional Logistic regression analysis model indicated that caregiver put pressure on children before exam and the adjusted odd ratio (OR) was 2.086 and 95% confidence interval (CI) was 1.263-3.444, caregiver’s character was extravert type (OR=2.074, 95% CI:1.275-3.372) or middle type (OR=1.796, 95% CI: 1.158-2.784), caregiver’s educational background was illiteracy (OR=1.867, 95% CI: 1.280-2.722) or primary school (OR=2.458, 95% CI: 1.169-5.168), the neurotic behaviors of children (OR=1.466, 95% CI: 1.012-2.124) were risk factors of unintentional injuries among internal-migrant children. Conclusions The characteristics related to internal-migrant children’s caregiver and children’s neurotic behaviors are associated with the occurrence of unintentional injuries. Immediate and effective measures should be taken to ease the high injury prevalence and prevent the unintentional injuries among internal-migrant children.

Study on expression, role and mechanism of leukocyte adhesion molecule CD44 in pulmonary tuberculosis patients / 中国免疫学杂志

Objective: To study the expression of CD44 in pulmonary tuberculosis patients and explore the possible mechanisms. Methods: 236 patients suspected with pulmonary tuberculosis were selected and divided into pulmonary tuberculosis group ( n= 152) and non-pulmonary tuberculosis group ( n= 84), and 100 healthy people were randomly selected as healthy control group. The expression of CD44 was evaluated by qRT-PCR and ELISA in peripheral blood and pleural effusion from different patients. The CD44 levels at pre and post-treatment time points were determined by ELISA. The inducing factors of increased CD44 and the potentialroles played by CD44 in the pathogenesis of TB were also evaluated. We elucidated whether CD44 detection could combine with T-spot. TB to diagnose pulmonary tuberculosis rapidly and accurately. Results: The expression of CD44 in pulmonary tuberculosis patients was higher compared with the non-pulmonary tuberculosis patients and healthy people, and would be down-regulated after treatment for 3, 6 and 9 months. Besides, CD44 could not remove H37 Ra by the CFU assay, and could promote the expression of CCL-2, indicating that CCD4 promote the mobility the THP-1 via induction of CCL-2. Besides, TNF-α neutralizing antibody, added into the macrophages, could inhibit the expression of CD44, and functional TNF-α induced the expression of TNF-α. Conclusion: CD44 is highly expressed in pulmonary tuberculosis patients, which may be due to the high expression of TNF-α in pulmonary tuberculosis patients, stimulating macrophages to produce CD44, and it will provide a basis for clinical diagnosis of pulmonary tuberculosis.

Propofol attenuates hydrogenperoxide-induced apoptosis in human umbilical vein endothelial cells via multiple signaling pathways / 대한마취과학회지

BACKGROUND: Propofol has been reported to protect vascular endothelial cells against oxidative stress. In this study we investigated its effect on hydrogen peroxide (H2O2)-induced apoptosis of human umbilical vein endothelial cells (HUVECs) and examined the possible signaling pathways. METHODS: HUVECs were pretreated with propofol (1, 5, 25, and 50 microM) for 30 min and then co-incubated with 0.4 mM H2O2 for 4 h. Cell viability was assessed using a Cell Counting Kit-8. Cell apoptosis was analyzed using flow cytometry with annexin V/propidium iodide staining, and evaluated by quantifying caspase-3, Bax, and Bcl-2 expression levels. The expression levels of p38 mitogen activated protein kinase (MAPK), phosphorylated (p)-p38 MAPK, cJun-N-terminal kinases (JNK), phosphorylated (p)-JNK, Akt and phosphorylated Akt [(p)-Akt] (Ser473) were measured by western blotting. RESULTS: H2O2 treatment induced the activation of caspase-3, downregulated Bcl-2 expression, and up-regulated Bax expression, all of which were dose-dependently attenuated by propofol pretreatment. Furthermore, propofol significantly ameliorated H2O2-induced phosphorylation of p38 MAPK, JNK, and Akt in HUVECs. CONCLUSIONS: Propofol can protect HUVECs against H2O2-induced apoptosis via a mechanism that may involve p38 MAPK, JNK, and Akt signaling pathways.

Selection of the sites for microsurgical vasoepididymostomy: A report of 56 cases of epididymal obstructive azoospermia / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the prediction of the site for microsurgical vasoepididymostomy (VE) in the treatment of epididymal obstructive azoospermia (OA).</p><p><b>METHODS</b>This study involved 56 infertile men with confirmed OA whose obstruction was suspected to be in the epididymis. Based on their medical history and results of preoperative physical examination and ultrasonography, we predicted the sites for VE. We performed surgical scrotal exploration for the status of epididymal obstruction, conducted palpation and microscopic observation for the epididymal tubules to be anastomosed, and finally decided on the sites for VE by making sure of the presence of motile sperm in the epididymal fluid of the patients. After surgery, we followed up the patients for the rate of pregnancy.</p><p><b>RESULTS</b>All the patients received bilateral scrotal ultrasonography and surgical scrotal exploration, totaling 112 procedures, including 98 VE procedures. The accuracy rate of the predicted sites for VE was 80.5% (153/190) by medical history and physical examination, 80.3% (90/112) based on the results of ultrasonography, and 87.4% (90/103) according to the first selected epididymal tubules. Of the 28 patients followed up for more than 12 months, motile sperm were found in 19 (67.9% ) at 2 to 12 months and spontaneous pregnancies were achieved in 10 (35.7%), all with the anastomotic sites in the corpus or cauda.</p><p><b>CONCLUSION</b>Medical history and physical examination contribute to the selection of anastomotic sites and non-invasive scrotal ultrasonography is effective and practical for positioning epididymal obstruction. The epididymal tubules with motile sperm for anastomosis could be easily obtained from the most dilated ones in indurated epididymides.</p>

Normal kidney data of adult Guizhou miniature pigs measured by multislice spiral CT in vivo / 中国实验动物学报

Objective To establish normal kidney data by measuring the diameter and volume of the kidneys in a -dult Guizhou miniature pig.Methods Twelve healthy adult Guizhou miniature pigs (male 6, female 6) were used in this study.The kidneys were scanned by using Siemens dual source CT , and the raw data were used for multiplanar reconstruc-tion (MPR) and volume reconstruction (VR) using the software Aquarius iNtuition 4.4.The anteroposterior and left to right dimensions of both kidneys were measured at the median transverse plane of the organ , and the long and short diame-ters of both kidneys were measured at the maximum coronal section of the organ .The volume of both kidneys and miniature pig itself, the ratio of long to short diameters of both kidneys , and the relationship between the ratio of long to short diame-ter and the kidney were calculated .The correlation between the length dimension , length diameter ratio and the volume of the kidney was analyzed , and the correlation between volume of the kidney and miniature pig was analyzed as well .P<0.05 was set as statistically significant .Results The dimensions of anteroposterior , left to right, long and short diameters of left kidney were 40.40 ±1.67 mm, 27.47 ±1.40 mm, 80.36 ±2.74 mm and 31.79 ±1.99 mm, respectively.The vol-ume of left kidney was 52.78 ±2.25 cm3 , and the ratio of long to short diameter of the left kidney was 2.42 to 2.71:1. The dimension of anteroposterior , left to right, long and short diameters of the right kidney were 40.95 ±1.43 mm, 26.90 ±0.65 mm,79.03 ±2.38 mm and 32.04 ±2.34 mm, respectively .The volume of right kidney was 51.91 ±2.25 cm3 , and the ratio of long to short diameter of the right kidney was 2.33 to 2.77:1.There were highly positive and significant correlations between the long diameter and the kidney volume (rleft =0.92, P<0.05;rright =0.88, P<0.05) as well as between the kidney volume and the miniature pig (rleft =0.96, P<0.05;rright=0.98, P<0.05), while the ratio of long to short diameter of the kidney was negatively related to the volume of the miniature pig ( rleft =-0.51, P<0.05;rright=-0.67, P<0.05).Conclusions Multislice spiral CT and its post-processing software can accurately measure various data of the kidneys of Guizhou miniature pig in vivo , providing normal reference of the animal model for the research of hu -man kidney diseases .

The role of the spinal cord inducible nitric oxide synthase in morphine dependence and naloxone-precipitated withdrawal rats / 中国应用生理学杂志

<p><b>OBJECTIVE</b>To explore if induced nitric oxide in the spinal cord mediates withdrawal syndrome in morphine-dependent rats.</p><p><b>METHODS</b>Male SD rats weighing 200-250 g were employed in the present study. To set up morphine dependence model, rats were subcutaneously injected with morphine (twice a day, for 5 d). The dose of morphine was 10 mg/kg in the first day and was increased by 10 mg/kg each day. On day 6, 4 h after the injection of morphine (50 mg/kg), morphine withdrawal syndrome was precipitated by an injection of naloxone (4 mg/kg, ip). Inducible nitric oxide synthase (iNOS) inhibitors aminoguanidine (AG) was intrathecally injected 30 min before the administration of naloxone. All the rats were divided into four groups: control group, dependence group, withdrawal group, AG group. Morphine withdrawal score, touch evoked agitation scores (TEA scores), immunohistochemical and Western blot technique were used to evaluate morphine withdrawal response and the expression of iNOS in the spinal cord.</p><p><b>RESULTS</b>Intrathecal injection of iNOS inhibitors AG could alleviate morphine withdrawal symptoms. Morphine withdrawal scores and touch evoked agitation scores in AG group were significantly lower than that of withdrawal group (P < 0.05). iNOS positive neurons in dorsal horn of AG group were significantly lower than that of withdrawal group (P < 0.05). Level of iNOS protein in spinal cord of AG group was significantly lower than that of withdrawal group (P < 0.05).</p><p><b>CONCLUSION</b>Induced nitric oxide in the spinal cord may mediate withdrawal syndrome in morphine-dependent rats.</p>

The different roles of the spinal protein nNOS and iNOS in morphine naloxone-precipitated withdrawal response / 中国应用生理学杂志

<p><b>OBJECTIVE</b>To explore the effects of intrathecal injection of neuronal nitric oxide synthase (nNOS) inhibitors 7-Nitroindazole (7-Ni) and inducible nitric oxide synthase(iNOS) inhibitors aminoguanidine (AG) on the behavioral changes of morphine-induced dependent and withdrawal rats; the expression of Fos, nNOS and iNOS in spinal cord.</p><p><b>METHODS</b>To set up morphine dependence model, rats were subcutaneously injected with morphine (twice a day, for 5 d). The dose of morphine was 10 mg/kg in the first day and was increased by 10 mg/ kg every day. On day 6, 4 h after the injection of morphine (50 mg/kg), morphine withdrawal syndrome was precipitated by an injection of naloxone (4 mg/kg ip). 7-Ni, an nNOS inhibitor or iNOS inhibitors AG were intrathecally injected 30 min before the administration of naloxone respectively. The scores of morphine withdrawal symptom and morphine withdrawal-induced allodynia were observed. One hour after naloxone-precipitated withdrawal, Fos protein expression was assessed by immunohistochemical analysis and Western blot was used to detect the expression of nNOS and iNOS in the rat spinal cord.</p><p><b>RESULTS</b>Intrathecal administration of nNOS inhibitor 7-Ni and iNOS inhibitors AG decreased the scores of morphine withdrawal, attenuated morphine withdrawal-induced allodynia and also inhibited the increase of Fos protein expression in the spinal cord of morphine withdrawal rats. nNOS and iNOS positive neurons in dorsal horn in nNOS group and iNOS group were significantly lower than that in withdrawal group. Compared with withdrawal group, level of nNOS and iNOS protein in spinal cord in nNOS group and iNOS group were significantly lower.</p><p><b>CONCLUSION</b>It is suggested that nNOS and iNOS in the spinal cord may contribute to naloxone-precipitated withdrawal in rats and may play different roles in the above-mentioned effect.</p>

Experimental observation on the yellow mice(Citellus undulatus) infected with Yersinia pestis over the winter / 中国地方病学杂志

Objective To analysis and determine the possibility of the Citellus undulatus infected with Yersinia pestis surviving the winter in an experimental study, and to provide scientific experimental basis for the study on the mechanism of Yersinia pestis preservation. Method In 2006,09 to 2007,04 and 2007,09 to 2008,04 in Xinjiang Wusu-Gurtu natural foci of plague, under natural conditions, the over the winter process of Citellus undulatus carrying the plague bacteria was simulated, and 178 Citellus undulatus were infected with Yersinia pestis (1×107 Bacteria/mouse) using artificial injection method. One hundred seventy-eight Citellus undulatus infected with Yersinia pestis were kept into a construction of the black (1-5 ℃) basement (2 meters under the ground) in the plague focus. In doing so, these Citellus undulatuses almost simultaneously stepped into hibernation. After waking up from hibernation in following year in April, the survived mice carrying the plague bacteria were observed. Results Sixty-eight mice survived among the 178 infected with Yersinia pestis after 6 months of hibernation (through October to the following year in April), and the remaining 110 were all dead without pulling through the hibernation period. The survival rate was 38.2% (68/178). The organ culture of Yersinia pestis of the 110 dead mice(Citellus undnlatus) were tested, 67 were negative(-), 43 positive(+), with a positive rate of 39.1%(43/110). Among the rats with positive plague bacteria, the congestive pulmonary edema and the pathological changes of the hemorrhagic inflammation of the heart, liver, spleen, kidney and injection site could be seen clearly; the plague-free mice were not found to have any pathological changes. The survived 68 mice over the winter were autopsied and observed after being fed up for 20 days. No any pathological changes were found among these mice, and culturing of Yersinia pestis of the heart, liver, spleen, lungs and the tissue of injection site of these mice were all negative (-). Conclusions Citellus undulatus can carry Yersinia pestis during hibernation, but some fail to carry the bacteria through the entire process of hibernation persistently. Yersinia pestis was negative in the survived mice at the end of hibernation. The results showed that Citellus undulatus can not carry Yersinia pestis over the winter.

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Leigh syndrome is an inherited neurodegenerative disease that emerges in infancy and childhood and presents with a clinically heterogeneous variety of neuromuscular and non-neuromuscular disorders. It can result from the inheritance of mutations in either nuclear or mitochondrial DNA. In the current study, we performed a retrospective study in 65 patients in order to investigate the clinical and genetic characteristics of Leigh syndrome in Chinese patients.</p><p><b>METHODS</b>Sixty-five unrelated cases (35 men and 30 women) who were hospitalized in the past 12 years were reviewed. Diagnosis was based on both the clinical presentation and the characteristic neuropathologic findings of bilateral symmetric necrotizing lesions in the basal ganglia and brain stem as detected using cranial computed tomography (CT) scan or magnetic resonance imaging (MRI). The differential diagnosis of organic acidurias and fatty acid beta-oxidation defects were performed. Specific point mutations and deletions in mitochondrial DNA (T8993G, T8993C, T9176C, A8344G, A3243G) were screened by PCR-restriction analysis and Southern blot. The SURF1 gene was sequenced. Skeletal muscle biopsies were performed in 17 (26.2%) of the patients. The diagnosis was confirmed by autopsy in 6 (9.2%) patients.</p><p><b>RESULTS</b>The patients had various forms of metabolic encephalomyopathy. Fifty-nine (90.8%) of the patients had the typical neuroradiological features of Leigh syndrome, including symmetrical necrotizing lesions scattered within the basal ganglia, thalamus and brain stem. Twenty (30.8%) patients were confirmed by genetic, biochemical analysis and autopsy. Specific point mutations in mitochondrial DNA were found in 5 cases (7.7%). Of these, the A8344G mutation was detected in 2 patients. The T8993G, T8993C, and A3243G point mutations were identified in 3 other patients, respectively. SURF1 mutations associated with cytochrome c oxidase deficiency were identified in 8 (12.3%) families by DNA sequencing. A G604C mutation was identified in 6 (9.2%) patients. The genotypes of 52 patients remained unknown.</p><p><b>CONCLUSIONS</b>Leigh syndrome presents as a diverse array of clinical features and can result from specific mutations in nuclear or mitochondrial DNA. In this study, SURF1 mutations associated with cytochrome c oxidase deficiency were identified in 8 (12.3%) out of 65 patients with Leigh syndrome. It indicates that SURF1 mutations might be a common cause of Leigh syndrome in China. The etiology of Leigh syndrome in Chinese patients represents a persistent challenge to clinicians.</p>

Effects of compound preparation of Cordyceps sinensis and Tripterygium hypoglaucum on survival time of pigskin after allogeneic transplantation / 中西医结合学报

OBJECTIVE: To investigate the effects of compound preparation of Cordyceps sinensis and Tripterygium hypoglaucum (CSTHC) on survival time of grafted pigskin after allogeneic transplantation and its mechanism. METHODS: The pigskin was treated with CSTHC solution before allogeneic transplantation, and CSTHC ointment was applied for external use on the grafted pigskin after skin transplantation. Cyclosporine A (CsA) and normal saline were served as control. The survival time, the appearance and the histomorphological changes of the grafted pigskin were observed. The histomorphological changes of testicles in pigs were also examined. The CD4 and CD8 expressions in the grafted pigskins were measured by immunohistochemical method. The white blood cell count in peripheral blood and the liver and renal functions were also examined. RESULTS: The survival time of the grafted pigskin in the CSTHC-treated group was (28.50+/-3.26)d, which was much longer as compared with (10.60+/-1.52)d in the untreated group (P<0.01). The survival time of the grafted pigskin in the CsA-treated group was (28.33+/-3.50)d, and there was no remarkable difference in the survival time of the grafted pigskin between the CsA-treated group and the CSTHC-treated group. The expressions of CD4 and CD8 were lower in the CSTHC-treated group than those in the untreated group on the 7th and 14th day after skin graft (P<0.05), while there was no significant difference in the indices between the CSTHC-treated group and the CsA-treated group. The WBC count was higher in the untreated group than that in the CSTHC-treated group or CsA-treated group on the 7th day after skin graft (P<0.05). CONCLUSION: CSTHC can prolong the survival time of allogeneic grafted pigskin. Its mechanism of inhibiting the immunological rejection may relate to decreasing the expressions of CD4(+) and CD8(+) in the grafted pigskin and reducing the local inflammatory reaction.

Clinical and laboratory screening studies on urea cycle defects / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the incidences of urea cycle defects (UCDs) in the patients with hyperammonemia and study their etiology, clinical and laboratory features.</p><p><b>METHODS</b>In the past 7 years, 26 cases (10.2%) of UCDs were detected from 254 patients with hyperammonemia. The etiological diagnoses were made by blood amino acids analysis, urinary organic acid analysis and blood acylcarnitine profile analysis. Three patients with citrullinemia type II were further confirmed by liver pathological analysis and gene diagnosis.</p><p><b>RESULTS</b>Among 26 cases with UCDs, 15 had ornithine transcarbamylase (OTC) deficiency, 5 had citrullinemia type I, 3 had citrullinemia type II and 3 patients had arginemia. The age of onset of the patients ranged from 3 days to 13 years. Three cases (11.5%) developed hyperammonemic encephalopathy during neonatal period. Thirteen (50.0%), 7 (26.9%) and 3 (11.5%) cases developed clinical symptoms at the age of 1 to 12 months, 1 to 3 years and 6 to 13 years, respectively. Positive family history was found in 11 cases (42.3%). Among 26 patients with UCDs, 9 (34.6%) were hospitalized with the complains of seizures, psychomotor retardation, vomiting and unconsciousness, 8 (30.8%) with recurrent vomiting, headache and coma, 6 due to liver dysfunction. Intrahepatic cholestatic jaundice was found in 3 patients with citrullinemia type II. Blood ammonia ranged from 58 to 259 micromol/L on their first visit to our hospital. Twenty cases (76.9%) had liver dysfunction, 4 patients (15.4%) were diagnosed postmortem. Twenty-one patients got treatment and were followed up. Among them, 7 cases died of hyperammonemic encephalopathy or upper alimentary tract bleeding. Clinical improvement was observed in 14 cases. A boy with OTC deficiency who received a partial liver transplant from his mother showed normal general condition for two years.</p><p><b>CONCLUSIONS</b>UCDs are the most frequent causes of congenital hyperammonemia. In this study, 26 patients (10.2%) with UCDs were identified from 254 patients with hyperammonemia resulting in encephalopathy and liver dysfunction. Early diagnosis and treatment can contribute a lot to improve the prognosis of the patients. Blood ammonia assay and further etiological analysis should be considered in the differential diagnosis of neurological and hepatic abnormality.</p>

Adenosine A1 receptors are involved in the modulation of the rhythmical respiration in neonatal rat brainstem slice in vitro / 生理学报

This study was designed to investigate whether adenosine A1 receptors could modulate primary rhythmical respiration in mammals. Experiments were performed in in vitro brainstem slice preparations from neonatal rats. These preparations included the medial region of the nucleus retrofacialis (mNRF) with the hypoglossal nerve rootlets retained. The activity of the inspiration-related neurons (I neurons) in mNRF and respiratory rhythmical discharge activity (RRDA) of the hypoglossal nerve rootlets were simultaneously recorded by using microelectrodes and suction electrodes, respectively. Possible roles of adenosine A1 receptors in rhythmical respiration were investigated by administration of adenosine A1 receptor agonist R-phenylisopropyl-adenosine (R-PIA) and its specific antagonist 8-cyclopentyl-1,3- dipropylxanthine (DPCPX) into a modified Kreb's perfusion solution (MKS). DPCPX induced a significant decrease in the expiratory time and the respiratory cycles, and an increase in the discharge frequency and peak frequency of I neurons in the middle phase of inspiration. However, R-PIA significantly decreased the inspiratory time and integral amplitude as well as prolonged respiratory cycle. Moreover, the discharge frequency and the peak frequency of I neurons were decreased in the middle phase of inspiration, but not in the initial and terminal phases. The effect of R-PIA on rhythmical discharges could be partially reversed by additional application of DPCPX. These results indicate that adenosine A1-receptors are possibly involved in the modulation of rhythmical respiration through the inhibitory synaptic input from I neurons.

Diagnosis and treatment of biotinidase deficiency-clinical study of six patients / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency and to determine the efficacy of current therapy with respect to outcome.</p><p><b>METHODS</b>Six patients aged from 3 months to 14 years with biotinidase deficiency were confirmed by urinary organic acid analysis with gas chromatography/mass spectrometry (GC/MS) and biotinidase assay on dried blood spots. Biotin was supplemented individually (10-40 mg/d). Their clinical features, laboratory findings, and treatment regimen were reviewed.</p><p><b>RESULTS</b>All the 6 patients presented with some extent of neurological abnormalities and dermatological lesions. Cases 1 - 3 had poor feeding, vomiting, seizures, mental retardation, and lethargy onset from their early infancy, with varied degree of anemia, ketosis, acidosis, and hypoglycemia. Case 2 exhibited eczema and dermatitis from his age of 7 months. Case 4 displayed motor deficit and ataxia after 6 months of age, and generalized pustular psoriasis when he was 8 months old. Cases 5 and 6 gradually showed muscle weakness and paraplegia at the age of 7 years and 5 years, respectively. Inflammatory demyelination changes of cervical cord were evident on magnetic resonance imaging in these two patients. Case 6 had progressive optic atrophy, eczema and alopecia. Remarkable elevations of urinary lactate, pyruvate, 3-OH-propionate, methylcitrate, propionylglycine, 3-OH-isovalerate, 3-methylcrontonylglycine were confirmed in cases 1, 2, 3 and 5. Slight increase of urinary lactate, pyruvate, and 3-methylcrontonylglycine was observed in cases 4 and 6. Biotinidase activities assayed on dried blood spots from all the patients were below 0.1 pmol/(min.3 mm) Biotin supplementation for all the patients, except for case 3 who was not treated, resulted in pronounced and rapid clinical and biochemical improvement. Cases 4 and 6 had residual neurological damage comprising ataxia and motor handicap of legs, due to prolonged disease course.</p><p><b>CONCLUSIONS</b>Biotinidase deficiency intensively impairs nervous system and skin in the affected patients. Urinary organic acid analysis and blood biotinidase assay are crucial to the diagnosis. Early diagnosis and biotin supplementation can contribute significantly to the improvement of prognosis.</p>

Nitric oxide is involved in the modulation of central respiratory rhythm / 生理学报

This experiment was expected to test whether nitric oxide (NO) exerted significant effect on the central respiratory rhythm. Experiments were performed on in vitro brainstem slice preparations from neonatal rats. These preparations include the medial region of the nucleus retrofacialis (mNRF); a part of pre-Bötinger complex, ventral respiratory group (VRG) and dorsal respiratory group (DRG). Respiratory-related burst activities were recorded from hypoglossal nerve rootlets before and during superfusion of the slice preparation with L-Arginine (L-Arg), sodium nitroprusside (SNP) or 7-nitro indazole (7-NI, an inhibitor of NO synthase). After perfusion with L-Arg and SNP, there was no significant change in respiratory rhythmical discharge activity (RRDA), but 7-NI decreased the integral amplitude of burst and inspiratory time. These results indicate that NO may take part in the inspiratory off-switching mechanism and that it also modulates the amplitude of respiratory-related bursts.

Diagnosis and treatment of secondary methylmalonic aciduria due to maternal vitamin B_(12) deficiency / 中华围产医学杂志

Objective To investigate the causes, diagnosis and treatment of infants with secondary methylmalonic aciduria due to maternal vitamin B 12 deficiency. Methods The clinical, laboratory data and treatment of 7 children with secondary methylmalonic aciduria and their mothers′ health and nutrition were retrospectively reviewed. Results All children were presented to the hospital with vomiting, seizures or mental retardation during 1 to 13 months after birth. Varied degrees of anemia was found in 6 infants and 5 with metabolic acidosis and liver dysfunction. Methylmalonic aciduria was found in all subjects. Four of the mothers had chronic gastritis, one with gallstones in liver and gallbladder and one was a vegetarian. Decreased serum level of vitamin B 12 and folic acid and elevated homocystine concentrations were found in all mothers. After vitamin B 12 and folic acid supplementation, significant improvement was observed in all patients. Six infants showed normal development and one had mild mental retardation. Conclusions Chronic gastritis, liver/gall bladder diseases or being a vegetarian might lead to maternal vitamin B 12 deficiency and then infantile secondary methylmalonic aciduria. Early diagnosis and vitamin B 12 and folic acid supplement are crucial in improving the prognosis.

Change of patients' health service seeking patterns by community health service institutions / 中华医院管理杂志

Objective To explore effective ways for community health service institutions to change patients' health service seeking patterns. Methods Yuetan Community Health Service Center of Fuxing Hospital affiliated to Capital Medical University and 9 community health service stations under its subordination in the 1996～2002 period were selected as a representative of the community health service institutions to be studied and intervened while the headquarters of Fuxing Hospital in the same period was selected as a representative of the third-tier hospitals to be studied. A comparison was made between the two in outpatient volume change. Questionnaires were distributed randomly to residents of the Yuetan area where Fuxing Hospital is located in order to study their health service seeking behaviors each year from 1996 to 2002. Results As a result of hard work in the 6 years, Yuetan Community Health Service Center saw a steady increase in outpatient volume whereas the headquarters of Fuxing Hospital witnessed a steady decrease in outpatient volume. Survey via questionnaires sent randomly to permanent residents of the Yuetan area indicated a change in residents' health service seeking patterns. Conclusion It is effective and viable for community health service institutions to change patients' health service seeking patterns through providing social-psychological-biological community medical services, enhancing health education and setting up a two-way referral system with third-tier hospitals.

Clinical Study of a Patient with Pustular Psoriasis-like Lesion and Cerebral Palsy Due to Biotinidase Deficiency / 中华皮肤科杂志

Objective To investigate the clinical and laboratory profiles of a patient with pustular psoriasis-like skin lesion and cerebral palsy due to biotinidase deficiency. Methods A 5 year and 4 month-old boy with biotinidase deficiency was confirmed by urinary organic acid analysis with gas chromatography/mass spectrometry (GC/MS)and biotinidase activity assay of peripheral blood. His clinical features, laboratory findings, treatment and outcome were studied. Results The boy showed difficulty in taking food after birth, gradually eczema and pustules appeared at the age of 2 months, and generalized erythema and intractable pustular psoriasis-like lesion at the age of 8 months. His intellectual development was normal with retardation of locomotor system. He had muscular dystonia at the age of 6 months. Physical examination showed generalized pustular psoriasis-like lesion, generalized paralysis, hypertonic contracture of extremities, sparseness of scalp hair and severe malnutrition. Routine laboratory tests showed a mild anemia, metabolic acidosis and elevation of plasma creatine phosphokinase. Increased excretion of urinary lactate, pyruvate, 3-OH-propionate, propionylglycine, and 3-methylcrontonylglycine were observed. Biotinidase activity of his peripheral blood was below 0.1 pmol/min/3mm (normal 6.3-9.3 pmol/min/3mm). Biotin (10 mg/day) supplementation led to a dramatic recovery of the skin lesion. After the treatment of rehabilitation, his muscle power was also improved gradually. Conclusions Dermatological and neurological manifestations are the main features of biotinidase deficiency. Early diagnosis and biotin administration can greatly improve the clinical symptoms. Generalized pustular psoriasis-like lesion and cerebral palsy of this boy have improved after the supplementation of biotin, but he may be remained wheelchair-dependent because of delayed diagnosis.