A population-based study of the recurrence of developmental disabilities--Metropolitan Atlanta Developmental Disabilities Surveillance Program, 1991-94

Serious developmental disabilities (DD) are quite common and affect approximately 2% of all school-aged children. The impact of DDs with respect to the need for special education services, medical care and the demand on family members can be enormous. While this impact can be magnified for families with more than one child with a DD, little is known regarding the epidemiology of recurrence of DDs. When the cause of a DD is unknown, genetic counsellors rely on recurrence risk estimates which for DDs are over 10 years old. The objectives of our study were to: (1) assess the contribution of recurrent cases to the prevalence of DDs; (2) provide current, population-based recurrence risk estimates; and (3) examine characteristics of the first affected child as predictors of recurrence. Two population-based data sources were used to identify all children born to the same mother during the period 1981-91 in the five-county metropolitan Atlanta area with at least one of four DDs: mental retardation (MR), cerebral palsy, hearing loss, or vision impairment. Recurrence risk estimates for these DDs ranged from 3% to 7% and were many times higher than the background prevalences. The risk of recurrence of DDs was greatest for MR - approximately eight times greater than the baseline MR prevalence. Isolated mild MR (IQ 50-70) was highly concordant between siblings with MR. Sex, race, and birthweight of the index child, maternal education, and maternal age were not significantly associated with recurrence risk. Further research is needed to investigate the roles of genetic and environmental factors on the recurrence of DDs, particularly isolated mild MR.     

智能低下儿童病因及早期干预研究

目的为探索智能低下儿童训练的有效方法.方法分析163例智能低下儿童的高危因素;按波特奇(Portage)及弱智儿童早期教育法进行功能训练,训练2个疗程以上的56例为训练组;训练1～2次的31例为对照组,分析训练效果.结果163例智能低下儿童中母孕期有高危因素者136例(83.5%);训练组儿童智商(IQ)或发育商(DQ)训练前得分66.1±3.7;训练后得分82.66±9.57,差异有显著性(P＜0.01);新生儿颅内出血、新生儿窒息和过期产儿训练效果好,训练前后IQ(DQ)差异有显著性(P＜0.05,P＜0.01);1～5岁患儿训练前后IQ(DQ)差异有显著性(P＜0.05,P＜0.01).结论智能发育落后的儿童,在5岁前按Portage及弱智儿童早期教育法坚持训练,会取得显著效果.     

Ethanol preference in Maudsley and RXNRA recombinant inbred strains of rats.

Male and female rats of the Maudsley Reactive (MR/Har) and the Maudsley Nonreactive (MNRA/Har substrain), as well as four of the RXNRA recombinant inbred (RI), strains were tested for ethanol intake and preference across 6 weeks of two-bottle choice between 10% ethanol (vol./vol.) and water. In Experiment 1, after exposure to 10% ethanol as their sole source of fluid for 4 days before the onset of the two-bottle choice, MR/Har rats showed a higher preference for ethanol than that observed for all other strains. Three of the RI strains of rats showed a preference intermediate between that for MR/Har and MNRA/Har rats, and one RI strain of rat (BD) drank reliably less than the amount consumed by other strains. In Experiment 2, ethanol-naive rats exhibited lower ethanol intake and preference than in Experiment 1, and strain differences were minimal, with the exception that BD rats drank less ethanol than that consumed by all other rat strains. In both experiments, female rats drank more ethanol than did male rats across nearly all strains. Marked differences in ethanol consumption between Experiments 1 and 2 support earlier work showing that forced exposure to ethanol increases later intake, but that this effect is strongly influenced by genotype and gender such that MR/Har rats exhibited this change, but MNRA/Har rats did not. The patterns of strain differences in ethanol consumption were consistent with their determination by a polygenic system.     

先天智力低下患儿脆性X染色体分析

目的:探讨脆性X综合征对先天智力低下儿童病因学诊断的重要性。方法:对2002年10月-2004年12月该院门诊和病房不同程度的智力低下病人204例进行了外周血淋巴细胞低叶酸培养方法诱导脆性位点脆性X染色体研究。Xq 27表达频率>1%者定为阳性,表达频率≤1%者定为阴性。结果:在智力低下的患儿中Down综合征的检出频率最高为38.73%,脆性X综合征次之,检出率为5.39%,其中男性检出率6.06%,女性检出率4.17%,在智力低下中重度组FraX表达率高,反之,智力低下轻度组FraX表达率较低。结论:对先天智力低下儿童有必要进行X染色体脆性位点检查。     

Tissue glutathione and cysteine levels in methionine-restricted rats

OBJECTIVE: Previously, we demonstrated that lifelong methionine (Met) restriction (MR) increases lifespan, decreases the incidence of aging-related diseases, increases blood glutathione (GSH) levels, and prevents loss of GSH during aging in rats. Our present objective was to elucidate the effects of MR on GSH metabolism and transport by determining the time course and nature of GSH and cysteine changes in blood and other tissues in young and mature rats. METHODS: Male F-344 rats were placed on control (0.86% Met) or MR (0.17% Met) defined amino acid diets at age 7 wk and killed at different times thereafter. MR was also initiated in adult (12-mo-old) rats. RESULTS: Throughout the first 2 mo of MR, blood GSH levels increased 84% and liver GSH decreased 66% in relation to controls. After this period, liver GSH levels remained constant through at least 6 mo. GSH levels also decreased in the pancreas (80%) and kidney (22%) but remained unchanged in other tissues examined after 11 wk of MR. The increase in blood GSH was evident as soon as 1 wk after initiating MR and reached a plateau by 6 wk. A similar increase in erythrocyte GSH levels was observed when MR was administered to mature adult rats. Fasting decreased liver GSH in controls but had no further effect in MR animals. By 1 mo, cysteine levels had decreased in all tissues except brain. CONCLUSION: These results suggest that adaptive changes occur in the metabolism of Met, cysteine, and/or GSH as a result of MR in young and adult rats. These early metabolic changes lead to conservation of GSH levels in most extrahepatic tissues and increased GSH in erythrocytes by depleting liver GSH to a critical level.     

MR images of gliomas

MR images of 55 gliomas (23 malignant gliomas, 16 Grade I-II astrocytomas, 7 oligodendrogliomas, 5 pontine gliomas, 2 central neurocytomas and 2 ependymomas) were reviewed. Histological diagnosis was obtained in all of these gliomas. Morphologic appearance and signal intensities of each glioma were evaluated on T1 and T2 weighted images. Nearly isointensity areas which correspond to enhanced areas on CT scans were observed in all malignant gliomas, and 19 of 23 malignant gliomas (83%) showed heterogeneous intensities on MR images. On the other hand, 12 of 16 benign astrocytomas (75%), 5 of 7 oligodendrogliomas (71%) and all of 5 pontine gliomas showed homogeneous intensities. All of central neurocytomas and ependymomas were shown as a solid tumor with cysts and heterogeneous intensities. In conclusion, although MR images without Gd-DTPA seemed not to be superior to contrast CT in differentiating malignant gliomas from benign one, it appears significant to know some tissue characteristics on MR images of gliomas in differentiating from the other brain tumors.     

寒区新兵适应期训练伤低场磁共振表现及损伤分布规律

目的:初步探讨寒区新兵适应期训练伤低场磁共振表现及损伤分布规律.方法:对寒区某部2011年度所有参训新兵适应期训练有损伤者进行MR检查,观察其MR表现及损伤规律.结果:某部2011年度参训新兵适应训练期共损伤23人,其中损伤膝关节9人(39.1％),损伤踝关节(含胫腓骨下段)8人(34.8％),损伤足部5人(21.7％),损伤髋关节1人(4.3％).结论:新兵适应期训练的时间、强度及方法均对训练伤有一定影响,建议部分训练科目分散进行,各种训练要由浅入深、循序渐进,并注意训练方法.     

1996至2000年全国5岁以下儿童死亡监测主要结果分析

目的了解1996至2000年全国5岁以下儿童年龄别和主要死因别死亡率的变化趋势。方法采用全国5岁以下儿童死亡监测网收集的1996至2000年以人群为基础的监测资料,计算不同地区的新生儿、婴儿、5岁以下儿童死亡率及5岁以下儿童主要死因别死亡率。结果2000年全国新生儿、婴儿和5岁以下儿童死亡率分别为22．8‰、32．2‰和39．7‰,较1996年(24．0‰、36．0‰和45．0‰)分别下降了5．0％、10．6％和11．8％;2000年城市新生儿、婴儿和5岁以下儿童死亡率分别为9．5‰、11．8‰和13．8‰,较1996年(12．2‰、14．8‰和16.9‰)分别下降了22．1％、20．3％和18．3％;2000年农村新生儿、婴儿和5岁以下儿童死亡率分别为25．8‰、37．0‰和45．7‰,较1996年(26．7％0、40．9％0和51．4％0)分别下降了3．4％、9．5％和11．1％。1996至2000年,全国5岁以下儿童的痢疾、肺炎、腹泻、神经管缺陷和溺水死亡率有明显下降趋势。结论1996至2000年,我国城市和农村的新生儿、婴儿、5岁以下儿童死亡率有明显的下降趋势,且肺炎、腹泻等可避免死因的死亡率下降在农村地区尤为明显。     

安徽省某乡镇4～17岁儿童精神发育迟滞的现患研究

目的 :描述安徽省某乡镇 4～ 17岁儿童精神发育迟滞 (mental retardation,MR)现患率状况 ,分析不同等级 MR儿童出生缺陷与发育障碍的检出率。方法 :对某农村地区 1个乡镇的 2 4个行政村所有常住人口进行入户调查 ,结合线索调查对所有 4～ 17岁疑似智力低下儿童进行智力筛查 ,阳性者进行韦氏智力测验及社会适应性能力评价 ,共筛查出阳性儿童 10 1人 ,确诊为精神发育迟滞为 83人 ,对检出的精神发育迟滞儿童进行体格检查及问卷调查。结果 :该农村地区 4～ 17岁儿童 MR粗检出率为7.31‰ ,男童检出率为 8.0 6‰ ,女童检出率为 6 .2 7‰。 MR女童中 ,重度 MR的构成要多于男性儿童。 10～ 17岁年龄组 MR儿童中 ,中度以上精神发育迟滞的构成高于 4～ 9岁年龄组。出生缺陷和其它发育障碍在 MR儿童中排往前 5位的依次是 :下肢运动障碍、上肢运动障碍、癫痫、马蹄内翻、视力障碍。新生儿期发热、惊厥、肺炎、新生儿窒息在不同 MR等级儿童中的发生有显著性差异。结论 :研究结果为进一步探讨 MR儿童的致病危险因素及制定相关策略提供了科学依据。     

Meal replacements are as effective as structured weight-loss diets for treating obesity in adults with features of metabolic syndrome

Meal replacements are widely used as a weight-loss strategy; however, their effectiveness outside controlled clinical trial environments is unknown. We compared meal replacements with a structured weight-reduction diet in overweight/obese Australians with raised triglycerides. In a randomized parallel design, 2 groups [meal replacement (MR) and control (C)] of 66 matched subjects underwent a 6000 kJ intervention for 3 mo (stage 1) and a further 3 mo (stage 2). The groups were provided oral and written information. The C group was supplied with shopping vouchers and followed a low fat/energy diet. The MR group was supplied with Slim-Fast trade mark products for 2 meals (1800 kJ) and consumed a low-fat evening meal. Clients were weighed every 2 wk and received structured supervision without professional dietary input, with compliance assessed by 3-d weighed food records. Blood biomarkers were used to assess fruit/vegetable intake and a questionnaire was used to assess attitudes to treatment. Fifty-five subjects completed stage 1 (withdrawals: 7 in the MR group, 4 in the C group) and 42 subjects completed stage 2. Weight loss was 6.0 +/- 4.2 kg (6.3%) for the MR group and 6.6 +/- 3.4 kg (6.9%) for the C group at 3 mo, and 9.0 +/- 6.9 kg (9.4%) for the MR group and 9.2 +/- 5.1 kg (9.3%) for the C group at 6 mo (different over time within but not between treatments). Serum folate and plasma beta-carotene were higher in the MR group. Plasma homocysteine fell in both groups (P < 0.005). Dietary fiber intake was higher in the C group (P < 0.02) and calcium was higher in the MR group (P < 0.001). We concluded meal replacement is equally effective for losing weight compared with conventional but structured weight-loss diets. Dietary compliance and convenience were viewed more favorably by participants who consumed meal replacements than by those in a conventional weight-loss program.     

A Pilot Randomized Controlled Trial of a Partial Meal Replacement Preconception Weight Loss Program for Women with Overweight and Obesity

About half of Australian women have a body mass index in the overweight or obese range at the start of pregnancy, with serious consequences including preterm birth, gestational hypertension and diabetes, caesarean section, stillbirth, and childhood obesity. Trials to limit weight gain during pregnancy have had limited success and reducing weight before pregnancy has greater potential to improve outcomes. The PreBabe Pilot study was a randomised controlled pilot trial to assess the feasibility, acceptability and potential weight loss achieved using a commercial online partial meal replacement program, (MR) vs. telephone-based conventional dietary advice, (DA) for pre-conception weight-loss over a 10-week period. Women 18–40 years of age with a BMI ≥ 25 kg/m² planning pregnancy within the next 6 to 12 months were included in the study. All participants had three clinic visits with a dietitian and one obstetric consultation. In total, 50 women were enrolled in the study between June 2018 and October 2019–26 in MR and 24 in DA. Study retention at the end of 10 week intervention 81% in the MR arm and 75% in the DA arm. In the-intention-to-treat analysis, women using meal replacements lost on average 5.4 ± 3.1% body weight compared to 2.3 ± 4.2% for women receiving conventional advice (p = 0.029). Over 80% of women in the MR arm rated the support received as excellent, compared to 39% in the DA arm (p < 0.001). Women assigned to the MR intervention were more likely to achieve pregnancy within 12 months of the 10 week intervention (57% (12 of 21) women assigned to MR intervention vs. 22% (4 of 18) assigned to the DA group (p = 0.049) became pregnant). The findings suggest that a weight loss intervention using meal replacements in the preconception period was acceptable and may result in greater weight loss than conventional dietary advice alone.     

Minimal exposure to ethanol increases ethanol preference in Maudsley reactive male rats.

Male Maudsley reactive (MR/Har) rats often exhibit marked ethanol or alcohol preference (AP) after forced (one-bottle) exposure to 10% [volume/volume (vol./vol.)] ethanol, but exhibit variable AP without this exposure. In this study, we examined manipulations of one-bottle exposure to ethanol (10% ethanol as the sole source of fluid) in three experiments. In Experiment 1, we recorded voluntary consumption of 10% ethanol during 5 weeks of two-bottle choice in male and female MR/Har rats after 0, 1, 2, 3, or 4 days of one-bottle ethanol exposure. The results showed that, in male rats, one day of one-bottle exposure was as effective as multiple days in increasing AP relative to findings for ethanol-naive (control) rats. Female rats were not affected by one-bottle exposure. They drank equal amounts of ethanol across all groups and in greater amounts than observed for male rats (relative to body weight). The results of Experiment 2 supported the suggestion that 18 h of exposure to ethanol was similar to 24 h of exposure for increasing subsequent ethanol consumption, and that 12 h of exposure increased AP relative to findings for ethanol-naive rats, but on a delayed basis and at a lower level than that observed for 24 h of exposure. In Experiment 3, we tested whether these increases in ethanol consumption, observed in male MR/Har rats after one-bottle exposure to ethanol, might be related to habituating to an unpalatable substance. Thus, rats had one-bottle tests with either a 10% ethanol solution (as in earlier studies) or a 0.01 mmol quinine solution, after which groups of rats were tested for voluntary consumption (two-bottle test) of one of these solutions and water. Results showed that although rats in the quinine-exposed group drank more fluid than that consumed by rats in the ethanol-exposed group during the one-bottle period, rats preferred ethanol to water and avoided quinine relative to water during the 5 weeks of two-bottle choice. The results seem to indicate that relatively small amounts of 10% ethanol can markedly increase subsequent AP in male MR/Har rats, and that this increase in AP does not seem to be attributable to a process of habituating to an unpalatable fluid.     

The value of tailoring vial sizes to populations and locations

Background

Frequently, a country will procure a single vaccine vial size, but the question remains whether tailoring the use of different size vaccine vial presentations based on populations or location characteristics within a single country could provide additional benefits, such as reducing open vial wastage (OVW) or reducing missed vaccination opportunities.

Diagnosis of laryngeal carcinoma using proton spin resonance tomography

Seventy-eight patients were investigated by magnetic resonance (MR) imaging using optimal scan parameters and a surface coil. Forty-two patients were also examined by computer tomography (CT). Sixteen patients underwent laryngectomy. MR imaging of cancerous tissue in the larynx, and particularly of non-invaded and invaded cartilages, was examined by comparing MR images with sliced surgical specimens. Pre-operative CT and MRI findings were evaluated by comparing them with postoperative histopathological findings. MR T1-weighted images demonstrate localisation and extent of cancerous tissue. With combined use of T1-weighted and proton-density images MR imaging is superior to CT for showing cartilage invasion. Unfortunately, gross movement artifacts, which resulted in non-diagnostic images, occurred in 16% of the examinations.     

96例早期股骨头缺血性坏死应用ECT和MR诊断比较

目的 比较发射型计算机断层扫描（ECT）与磁共振（MR）在股骨头缺血性坏死早期诊断价值。方法 回顾性收集2016年6月至2019年6月本院收治的96例疑似早期股骨头缺血性坏死（ANFH）患者临床资料。对比患者ECT和MR检查的诊断指标，包括灵敏度、特异度、正确诊断指数等。结果 96例疑似病例中，共有80例确诊为早期ANFH。ECT和MR对早期ANFH检查与病理诊断相比，差异均不显著（P>0.05）。ECT和MR检查早期ANFH的灵敏度分别为92.3%和95.0%（P>0.05），而MR特异度（80.0%）和正确诊断指数（0.75）显著高于ECT（特异度为55.6%，正确诊断指数为0.48）（P<0.05）。结论 ECT与MR在早期ANFH临床检查和诊断中，均有较高的灵敏度，MR的特异度和诊断正确指数优于ECT，更适用于临床应用。     

Methylmercury interaction with lymphocyte cholinergic muscarinic receptors in developing rats

Cerebral cholinergic muscarinic receptors (MR) have been suggested as one of the sensitive biochemical endpoints of the central nervous system altered by developmental exposure to the widespread seafood contaminant methylmercury (MeHg). In adult rats, MeHg has been shown to alter MR binding both in the brain and lymphocytes, supporting the use of MR in blood cells as a surrogate marker of CNS changes. The effects of MeHg have been evaluated on rat lymphocyte MR binding (using [3H]QNB as specific muscarinic ligand) in vivo (after perinatal exposure) and in vitro. For comparison, in vitro studies were also performed on human lymphocytes. Exposure to 1 mg MeHg/kg/day during pregnancy and lactation (from GD7 to PND7) significantly enhanced lymphocyte MR density in both adult and young rats 21 days after delivery, with a more pronounced effect in the mothers (B(max) increase of 139%) than in the male offspring (+49%) and female offspring (+73%) as compared with their respective controls (33+/-4, 41+/-8, and 37+/-4 fmol/million cells), in accordance with the higher Hg levels detected in the adult blood (11.3+/-2.2 microg/mL) than in pups (1.3+/-0.4 microg/L in both genders). A lower MeHg dose (0.5 mg/kg/day) was without any effect on lymphocyte MRs. In in vitro studies, MeHg was an almost equipotent inhibitor of (3)H-QNB binding to rat and human lymphocyte MRs (IC50 values were 4.1+/-0.29, 5.2+/-0.51, and 5.0+/-0.9 microM for total rat lymphocytes, rat T lymphocytes, and total human lymphocytes, respectively). Notably, the IC50 values for MeHg to lymphocyte MRs were comparable to the Hg levels reached in blood (5-50 microM) of the PND21 rats exposed to MeHg. The finding that the MR binding is a target for the effects of MeHg in peripheral blood cells is in accordance with our previous data in brain [Coccini et al., 2006. Effects of developmental co-exposure to methylmercury and 2,2',4,4',5,5'-hexachlorobiphenyl (PCB153) on cholinergic muscarinic receptors in rat brain. Neurotoxicology, in press], and supports the use of this peripheral endpoint as a biomarker of MeHg-induced cerebral muscarinic alterations. The similarity of MeHg IC50 binding data between human and rat in peripheral tissues suggests the possible application of such biomarker to humans exposed to environmental chemicals.     

2012年扬州市麻风疫苗效价与基础免疫成功率监测分析

目的了解扬州市麻疹风疹联合减毒活疫苗(简称麻风疫苗)的效价和免疫成功率,考核疫苗管理和冷链运转状况。方法采集60名8月龄儿童麻风疫苗免疫前、后1个月双份血清标本,分别进行麻疹、风疹IgG抗体测定。选择市、县疾病预防控制中心和乡接种点各2支麻风疫苗,采用微量细胞板培养法检测,进行麻风疫苗效价测定。结果免后麻疹抗体阳性59人,阳性率98.33%,免疫成功58人,免疫成功率96.67%,GMT 1∶1 285.13;风疹抗体阳性35人,阳性率58.33%,免疫成功35人,免疫成功率58.33%,GMT 1∶19.67;市、县、乡三个点的麻风疫苗效价均在102.5 TCID50/0.1mL以上,均为合格疫苗。结论扬州市疫苗管理和冷链系统运转状况良好,能保证疫苗的质量。麻风疫苗所包含的麻疹成分免疫原性好,风疹成分免疫原性较差。须进行后续的加强免疫是必要的,还应适时开展大中学生麻风类疫苗追加免疫。     

磁共振双回波成像对肝内良、恶性占位病变的鉴别诊断价值

目的：评价磁共振双回波成像在肝内占位性病变鉴别诊断的应用价值。方法：对根据临床表现、生化检查、CT检查及手术病理随机选择肝内良、恶性占位病变各40例，每例均进行SE、T1W、FSET2W及磁共振双回波成像检查，对其磁共振双回波成像信号进行比较。结果：根据磁共振双回波信号的比较、分析，得出其对良性病变的诊断敏感性为85％、特异性为95％，对恶性病变的诊断敏感性为80％、特异性为94％。结论：在肝脏良、恶性病变的鉴别诊断中磁共振双回波成像信号提供了非常有价值的线索。     

Mupirocin-resistant, methicillin-resistant Staphylococcus aureus: does mupirocin remain effective?

OBJECTIVE: To determine the efficacy of mupirocin ointment in reducing nasal colonization with mupirocin-susceptible, methicillin-resistant Staphylococcus aureus (MS MRSA) as well as mupirocin-resistant MRSA (MR MRSA). DESIGN: Prospective evaluation in which patients colonized with MRSA were treated twice daily with 2% topical mupirocin ointment for 5 days. SETTING: James H. Quillen Veterans' Affairs Medical Center. PATIENTS: Forty hospitalized patients with two anterior nares cultures positive for MRSA within a 7-day period. METHODS: Treated patients had post-treatment cultures at day 3 and weeks 1, 2, and 4. Isolates underwent mupirocin-susceptibility testing and DNA typing. MRSA clearance and type turnover were assessed for isolates that were mupirocin-susceptible, low-level (LL) MR MRSA and high-level (HL) MR MRSA. RESULTS: Post-treatment nares cultures on day 3 were negative for 78.5%, 80%, and 27.7% of patients with MS MRSA, LL-MR MRSA, and HLMR MRSA, respectively. Sustained culture negativity at 1 to 4 weeks was more common in the MS MRSA group (91%) than in the LL-MR MRSA group (25%) or the HL-MR MRSA group (25%). Positive post-treatment cultures usually showed the same DNA pattern relative to baseline. Plasmid curing of 18 HL-MR MRSA resulted in 15 MS MRSA and 3 LL-MR MRSA. CONCLUSIONS: Mupirocin was effective in eradicating MS MRSA, but strains of MR MRSA often persisted after treatment. This appeared to reflect treatment failure rather than exogenous recolonization. MR MRSA is now more prevalent and it is appropriate to sample MRSA populations for mupirocin susceptibility prior to incorporating mupirocin into infection control programs.