A diagnostic profile of gerstmann's syndrome: a case study

The authors present a diagnostic profile of Gerstmann's syndrome, the subject being a girl, aged 10 years 3 months, right-handed, and at the time of this study in her fourth school year (Grade 4). The subject's verbal and non-verbal IQ scores and additional assessment data were analyzed and summative responses given. The Senior South African Individual Scale - Revised was administered to determine the intellectual functioning of the subject. A qualitative analysis of the results revealed average intellectual functioning on both the verbal and full scales. The non-verbal scale revealed low average intellectual functioning. The difference between the verbal scale IQ and the non-verbal scale IQ was statistically significant at the 5% level of reliability. Based on the scatter analysis it is evident that the subject experienced difficulties with regards to numerical reasoning, handwriting, spatial disorientation and difficulty in mental manipulation of images, as associated with Gerstmann's syndrome.     

The Quest for an Instructional Delivery Framework for Children with Gerstmann's Syndrome

This study aimed to develop a new scale, the ‘Supports Scale For Preschool Inclusion’ (SSPI), to assess pre‐school teachers’ perceptions of necessary factors and availability of supports for a successful inclusion in pre‐school educational settings. Pre‐school teachers (n = 183, mean age = 32.81, standard deviation = 8.29) from all regions of Turkey participated in the study. They were asked to fill in each item of the SSPI for two dimensions, namely necessity and support dimensions, by rating on a four‐point Likert‐type scale from 1 (none) to 4 (completely). A number of reliability and validity analyses—such as internal consistency, test–retest reliabilities and factor and criterion validities—were conducted to examine the psychometric properties of the SSPI. The results showed that the 34‐item respondent‐based scale is a reliable and valid instrument to assess pre‐school teachers’ perception of necessities and availabilities of supports for successful inclusion. Findings were discussed in relation to the usage of the scale in inclusive settings.     

肝性脑病合并Marchiafava-Bignami综合征1例

报道1例肝性脑病合并Marchiafava-Bignami综合征病例。记述该病人的发病,诊断与治疗过程。提示酗酒史和头颅核磁共振检查有助Marchiafava-Bignami综合征的早期诊断。     

Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland

OBJECTIVES—To investigate a reported cluster of Down's syndrome in offspring of former pupils of a girls' school in Ireland, to establish the prevalence of Down's syndrome among live births in the area around the school, and to review the literature on the possible causes of reported clusters of Down's syndrome.
METHODS—Questionnaire survey of obstetric and personal histories of women who had attended the girls' school at Dundalk, County Louth, Republic of Ireland, at some time during 1956-7, and also of women who had attended another, nearby, girls' school during the same period. Comparison of observed numbers of cases of Down's syndrome identified by these surveys with maternal age adjusted expected numbers for the reported live births. Laboratory tests were conducted to verify and characterise the cases of Down's syndrome constituting the cluster. Retrospective collection and collation of data on Down's syndrome occurring among live births, and the compilation of maternal age specific incidences, in County Louth and in Newry and Mourne District in neighbouring Northern Ireland, during 1961-80. These rates were compared with reference rates and rates for other areas of Ireland.
RESULTS—Six children with Down's syndrome were confirmed among 387 reported live births to women who had been pupils at the girls' school in Dundalk during 1956-7, compared with 0.69 expected (nominal p<10^-4). Five of the affected births were to mothers under 30 years of age, against 0.15 expected (nominal p<10^-6), although only four of these mothers were attending the school at any one time. The origin of the non-disjunction was found to be maternal first meiotic in four children, mitotic after fertilisation in another (with the youngest mother), and in the remaining one could not be determined. The marked excess of Down's syndrome in births to young mothers did not extend to offspring of former pupils of the other Dundalk girls' school surveyed, or to live births in County Louth generally or in adjacent Newry and Mourne District.
CONCLUSION—A striking, highly localised, excess of Down's syndrome in births to young mothers who had attended a girls' school in Dundalk during 1956-57 has been confirmed. However, not all of the mothers of the affected children attended the school concurrently and the origin of non-disjunction in one child was an error occurring after conception. Some exposure essentially confined to girls attending the school at this time is a possible, although unlikely, explanation, but a review of potential risk factors does not suggest what this could be. Previous suggestions that an influenza epidemic or contamination from the Windscale nuclear reactor fire might be implicated, both of which occurred in October 1957, can be effectively dismissed because three of the women with affected offspring had left the school by then and had moved away from Dundalk, and Down's syndrome in the child of another mother originated in an error after fertilisation. Owing to the retrospective nature of the investigation and the characteristics of the cases, chance is the most likely explanation for the cluster.


Keywords: Down's syndrome; cluster; maternal exposure     

Bias in risk estimation: application to Down's syndrome screening

In this paper we consider the bias associated with parametric estimation of a univariate or bivariate Gaussian density, and also the induced bias when these Gaussian densities are used to determine a likelihood ratio. Algebraic approximations are derived that accurately predict the relative biases obtained, verification being achieved by a simulation exercise. The expressions confirm that when estimating a univariate Gaussian density there are four Z-scores for which there is zero bias and that relative bias increases rapidly beyond two standard deviations from the mean. The results are then extended to determine approximate confidence intervals for both the true density and the likelihood ratio. A simulation exercise confirms that the derived 95 per cent confidence intervals have coverage that ranges from 94 to 97 per cent. The results are applied to a Down's syndrome screening programme where 95 per cent confidence intervals are established for a woman's posterior odds of carrying a Down's foetus. It is shown that patients with similar posterior odds can give rise to confidence intervals for their true posterior odds that have very different widths, thus emphasizing that not all risks are of equal quality.     

The impact of prenatal counselling on mothers of surviving children with hypoplastic left heart syndrome: A qualitative interview study

ObjectiveTo explore the role of antenatal counselling in how parents make treatment decisions following an antenatal diagnosis of Hypoplastic Left Heart Syndrome (HLHS).BackgroundAntenatal counselling is a critical part of patient management following a diagnosis of fetal congenital heart disease; however, there is a very limited evidence base examining how parents actually experience antenatal counselling and make decisions in this context.MethodsSemi‐structured interviews were conducted with women who had received an antenatal diagnosis of HLHS. Interviews were digitally recorded, anonymised and transcribed verbatim. A thematic content analysis was performed using a constant comparative approach.ResultsEight mothers of surviving children with HLHS were interviewed. Eight key themes emerged including new perspectives on how women receive antenatal counselling and how it affects their decision making. Three themes in particular are new to the literature: (a) Mothers of children with HLHS reported feelings of intense guilt that arose in the antenatal period around potentially causing the condition in their child. (b) For this group of women, recollections of perceived pessimism during antenatal counselling had a lasting impact. (c) Despite support from partners or extended family, women nevertheless experienced a strong sense that antenatal decision making was largely a ‘maternal’ responsibility.ConclusionsWhen recounting their experiences of antenatal counselling, mothers of surviving children with HLHS offer new perspectives that can guide fetal cardiologists in how best to support their individual patients. Further research is needed to comprehensively understand the experience of prospective parents counselled for severe forms of fetal congenital heart disease.     

我国公立医院医生薪酬制度改革的逻辑分析——以福建省三明市为例

公立医院改革是医改的关键任务,根据进展来看,药品零差率销售与调整医疗服务价格的改革措施存在显著的效果边界,不能从根本上切断和改变医生诱导需求的内在动机。调整公立医院薪酬制度进而调动医务人员的改革积极性被认为是下一步改革的关键,也是公立医院改革最深层的机制问题。本研究从三明市公立医院改革整体政策框架入手,理清包括薪酬制度改革在内的各项改革政策措施的内在逻辑,分析其作用边界,并明确依靠薪酬制度改革解决深层次机制问题的逻辑基础,说明割裂的依靠某个或几个政策无法取得整体性的改革效果,对公共政策体系性和整体性的深入认识,有助于对当前公立医院改革的核心节点和进展步调进一步达成共识。     

Fatal asthma in a baker: A case report

A case of baker's asthma with a fatal outcome is described. Clinical features and the circumstances of death are recounted. While the case documents the potential severity of occupational asthma, it also illustrates the difficulties of managing occupational asthma in the absence of good social security.     

Playful and creative ICT pedagogical framing: a nursery school case study

This article reports on the findings of a one-year qualitative study in which a nursery school used information and communication technology (ICT) and a digital media consultant as a catalyst for cultural change leading to teachers’ improved pedagogical framing and children's enhanced learning dispositions. The pedagogic framing included the children making mini-movies and avatars which were uploaded onto the nursery website. It is argued that such innovative and creative ICT pedagogy was strongly motivational and afforded opportunities for co-construction and sustained shared thinking (SST) as it engaged with children's and families’ digital cultural habitus. The research reports on field notes, interviews and observations (n?=?15) of child peer interactions and teacher child interactions.     

Challenges in the Management of Mucopolysaccharidosis Type II (Hunter's Syndrome) in a Developing Country: a Case Report

Background

Mucopolysaccharidosis type II (Hunter''s syndrome) is an X-linked chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase with patients rarely living till adulthood. Failure to identify patients early could contribute to an increased morbidity as identified in this case report.

Case Details

An eight year old patient with Hunter''s syndrome identified five years after disease onset with severe cardiovascular complications exemplifies the challenges faced in resource-limited countries towards making diagnosis and treatment of rare conditions. Elevated urinary glycosaminoglycans levels or a strong clinical suspicion of Hunter''s syndrome, as identified in the index case, is a prerequisite for enzyme activity testing. Urinary mucopolysaccharide(MPS) level was 69.6mg/mmol(normal range is 0.0 – 11.6mg/mmol), and the confirming MPS electrophoresis analysis showed elevated heparan sulphate in the urine sample. Enzyme activity testing, with absent or very low iduronate-2-sulfatase activity, is diagnostic. However, the scarce availability and high cost of these tests is another constraint in making a diagnosis.

Conclusion

Identification and management of mucopolysaccharidosis type II pose a problem in resource-constrained countries due to late presentation, lack of facility for diagnosis and treatment, cost and expertise required for the management.     

Barrett's esophagus in anorexia nervosa: A case report

Barrett's esophagus (BE) is a metaplastic lesion that may result from long‐lasting gastroesophageal reflux and it is an established precursor of esophageal adenocarcinoma. There are reports of an increased prevalence of BE, and eventually esophageal adenocarcinoma, in patients with eating disorders characterized by purging behaviors like those with bulimia nervosa (BN). Among patients with eating disorders, those affected by anorexia nervosa binging purging subtype (ANBP), are behaviorally very similar to those with BN, but to our knowledge there are no data in literature about BE in patients with ANBP. We present the case of a 37‐year‐old female with a 20‐year history of ANBP in comorbidity with bipolar disorder, who developed a BE requiring multi‐specialistic intervention. © 2014 Wiley Periodicals, Inc. (Int J Eat Disord 2015; 48:147–150)     

A cluster of congenital abnormalities particularly Down's syndrome in a small Hungarian village in 1989–90

A unique cluster of congenital abnormalities, particularly Down's syndrome and twins was detected in a small Hungarian village in 1989 and 1990. Of 15 livebirths, 11 had congenital abnormalities (within them 4 have affected by Down's syndrome) and 6 were twins. Different approaches of field studies and laboratory examinations indicated the germinal mutagenic and teratogenic effect of the excessive use of trichlorfon at local fish farms. Here the main experiences of this environmental abuse are summarised and the goals of ongoing studies are outlined.     

Anorexia nervosa and Wernicke Korsakoff's syndrome: Atypical presentation by acute psychosis

A 16‐year‐old girl was admitted to the emergency department because of acute changes in mental state such as paranoid and nihilistic delusions, confabulations, and distortions of body schema perception. Her history was compatible with anorexia nervosa in that she had lost more than 17 kg in weight over one and a half years. Her body mass index was 14. She was diagnosed with Wernicke Korsakoff's syndrome and was given intravenous thiamine at 250 mg/day. Response was dramatic for nystagmus and gait incoordination but not for other symptoms. After dosage was increased to 750 mg/day all symptoms including psychosis improved. With her increase in food consumption, secondary deterioration was observed and diagnosed as refeeding syndrome. After proper replacements she was completely normal in the 9th month, and her weight was 55 kg. This patient was interesting for the presenting symptoms (psychosis), and improvement by high doses of thiamine replacement, and also for refeeding syndrome during this period. © 2009 by Wiley Periodicals, Inc. Int J Eat Disord 2010; 43:766–769     

Cardiovascular risk profile of mothers of a Portuguese birth cohort: A survey 4 years after delivery

Objectives

The aim of this study is to estimate the prevalence of smoking, low fruit and vegetable intake, sedentariness, overweight/obesity, abdominal obesity, hypertension, dyslipidemia and diabetes mellitus in mothers of a Portuguese birth cohort, 4 years after delivery.

Methods

A birth cohort was assembled at public maternities of Porto (2005–2006). Children and mothers were reevaluated 4 years later. In this analysis, 5435 women were included. Socioeconomic characteristics, smoking, diet and exercise were self-reported. Anthropometrics and blood pressure were measured. A subgroup of 2483 randomly selected women provided a fasting venous blood sample for lipid and glucose measurements.

Results

Overall, 25.3% women smoked, 71.5% consumed < 5 portions of fruit and vegetables per day, 81.3% were sedentary, 31.4% were overweight, 21.3% obese and 31.8% had abdominal obesity. The prevalence of hypertension, dyslipidemia and diabetes mellitus was 8.7%, 18.5% and 0.9%, respectively. At least one risk factor from each of the 3 groups (adverse lifestyles, adiposity and cardiometabolic comorbidities) was observed in 17.4% of women. Except for smoking, all risk factors were associated with unemployment, lower education and lower income.

Conclusions

The high prevalence of unfavorable lifestyles and adiposity, and the aggregation of risk factors emphasize the adverse cardiovascular risk profile at a young age.     

Reversible tubular dysfunction that mimicked Fanconi's syndrome in a patient with anorexia nervosa.

Patients with anorexia nervosa exhibit acid-base and electrolyte disturbances. Hypophosphatemia is commonly found in these patients during nutritional recovery. However, marked, possibly, life-threatening hypophosphatemia associated with proximal tubular dysfunction has not been previously described. We report a case of anorexia nervosa complicated by a nonacidotic proximal tubulopathy, which was manifested by renal glycosuria, as well as inappropriate phosphaturia and uricosuria resulting in hypophosphatemia and hypouricemia.     

A mechanistic latent variable model for estimating drug concentrations in the male genital tract: a case study in drug kinetics

The purpose of this study is to develop statistical methodology to facilitate indirect estimation of the concentration of antiretroviral drugs and viral loads in the prostate gland and the seminal vesicle. The differences in antiretroviral drug concentrations in these organs may lead to suboptimal concentrations in one gland. Suboptimal levels of the antiretroviral drugs may not be able to fully suppress the virus in that gland, leading to a source of sexually transmissible virus and increasing the chance of selecting for a drug-resistant virus. This information may be useful for selecting an antiretroviral drug regimen that will achieve optimal concentrations in the genital tract glands. Using fractionally collected semen ejaculates, Lundquist (Acta Physiol. Scand. 1949; 19:1-95) measured levels of surrogate markers in each fraction that are uniquely produced by specific male accessory glands. To determine the original glandular concentrations of the surrogate markers, Lundquist solved a simultaneous series of linear equations. This method has several limitations. In particular, it does not yield a unique solution, it does not address measurement error, and it does not provide population-averaged estimates after taking into account inter-subject variability in the parameters. To cope with these limitations, we developed a mechanistic latent variable model based on the physiology of the male genital tract and surrogate markers. We employ a Bayesian approach and perform a sensitivity analysis on the distributional assumptions on the random effects and priors. The model and Bayesian approach are validated on experimental data where the concentration of a drug should be (biologically) differentially distributed between the two glands. In this example, the Bayesian model-based conclusions are found to be robust to model specification and this hierarchical approach leads to more scientifically valid conclusions than the original methodology. In particular, unlike existing methods, the proposed model-based approach was not affected by a common form of outliers.     

Thenar hammer syndrome: a case report

BACKGROUND: Raynaud's phenomenon occurs among automobile mechanics secondary to long-term use of vibrating hand-held tools. It can also occur from traumatic injury to the upper extremity. AIM: This report describes a case of single digit Raynaud's phenomenon in an automobile mechanic due to focal arterial impact trauma. CASE REPORT: A 38-year-old right-handed transmission mechanic complained of paraesthesia and blanching of the right index finger on exposure to cold and eventually developed a transient necrotic ulcer at the tip of the digit. He had a long history of occupational exposure to vibrating hand-held power tools. Evaluation for common causes of Raymond's phenomenon was negative. The diagnosis of hand-arm vibration syndrome (HAVS) was rejected because of the rapidity of progression and severity of the symptoms restricted only to the index finger without corresponding symptoms of the other digits of the right hand as would be expected. Angiography revealed an obstructive lesion of the distal right radial artery at the wrist and he was diagnosed with thenar hammer syndrome. This uncommon condition was due to focal injury of the distal radial artery caused by repeated slamming of transmission parts on a work table. CONCLUSIONS: Not all cases of Raynaud's phenomenon in workers using vibrating hand-held tools are due to HAVS. Alternative aetiologies should be considered especially if symptoms are asymmetrical and unilateral.