bluuebunny/crossref_metadata_2025 huggingface dataset:
Acute psychiatric treatment and the use of physical restraint in first-generation immigrants in Italy: A prospective concurrent study
Authors: Tarsitani Lorenzo , Pasquini Massimo , Maraone Annalisa , Zerella Maria Paola , Berardelli Isabella , Giordani Roberta , Polselli Gian Marco , Biondi Massimo
Published: June 2012

Background and Aims:

Immigrants in Europe appear at higher risk of psychiatric coercive interventions. No studies have investigated this issue in Italy. The aim of this study is to investigate whether the use of physical restraint, compulsory admission and other treatment characteristics differ in immigrated and Italian-born patients admitted to a psychiatric intensive care unit.

Methods:

One hundred first-generation immigrant patients were compared to 100 age-, gender- and diagnosis-matched Italian-born patients. Subjects were diagnosed according to DSM-IV-TR and rated on the Clinical Global Impression – Severity Scale and the Global Assessment of Functioning. Clinical data and treatment characteristics were collected.

Results:

Immigrant patients were more likely to be physically restrained as compared to Italian-born patients (11% vs 3%; χ 2 = 4.92; p = 0.027; RR = 3.67; 95% CI = 1.05–12.7). No differences in the proportion of involuntary treatment were found. Immigrant patients did not receive higher doses of antipsychotics or benzodiazepines, but they had a longer stay in the hospital.

Conclusions:

The higher rate of physical restraint among migrants may reflect cultural, ethnic and language differences leading to communication problems between immigrant patients and mental health professionals. Since coercive interventions can be harmful, specific strategies to prevent this phenomenon in immigrants are needed.
Characteristics of Chinese rural young suicides by pesticides
Authors: Zhang Jie , Li Ziyao
Published: June 2012

Background:

The major suicide method in rural China today is ingestion of agricultural pesticides.

Aim:

This study is to investigate the characteristics of Chinese rural young suicides who died of pesticide ingestion.

Methods:

A sample of 392 suicides from rural China was studied using the psychological autopsy method, and data were analysed for demographic characteristics, the suicide method used, mental disorder and psychological characteristics.

Results:

Suicides by pesticide ingestion were enacted more because of impulsiveness and tended to demonstrate less mental illness than those suicides using other means in rural China.

Conclusions:

Accessibility, high toxicity and lethality of the pesticides were risk factors for the suicides of people without a mental disorder in rural China. The use of pesticides is a rational choice and the safe storage of these kinds of farming chemicals should be controlled to prevent certain suicides.
Evaluation of a short-term, cognitive-behavioral intervention for primary age children with anger-related difficulties
Authors: Cole Rachel L. , Treadwell Susanne , Dosani Sima , Frederickson Norah
Published: June 2012

This study evaluated the school-based short-term, cognitive-behavioral group anger management programme, ‘Learning How to Deal with our Angry Feelings’ (Southampton Psychology Service, 2003). Thirteen groups of children aged 7- to 11-years-old were randomly allocated to two different cohorts: One cohort ( n = 35) first received the intervention and was then assigned to a no-intervention period; the other ( n = 35) first had a no-intervention period and subsequently received the intervention. Both cohorts showed statistically significant improvements in their understanding of anger directly post-intervention, but neither reported improvements in self-perceived experience of anger scores. Teacher-rated measures of change in some problem behaviors (conduct problems and peer problems) showed significant improvements, but only in the second cohort (no intervention; intervention). The implications of these findings, and possible reasons for differences between cohorts, are discussed.
A.S.P.E.N. Clinical Guidelines
Authors: McMahon M. Molly , Nystrom Erin , Braunschweig Carol , Miles John , Compher Charlene ,   the American Society for Parenteral and Enteral Nutrition (A.S.P.E.N.) Board of Directors
Published: June 2012

Background: Hyperglycemia is a frequent occurrence in adult hospitalized patients who receive nutrition support. Both hyperglycemia and hypoglycemia (resulting from attempts to correct hyperglycemia) are associated with adverse outcomes in diabetic as well as nondiabetic patients. This American Society for Parenteral and Enteral Nutrition (A.S.P.E.N.) Clinical Guideline summarizes the most current evidence and provides guidelines for the desired blood glucose goal range in hospitalized patients receiving nutrition support, the definition of hypoglycemia, and the rationale for use of diabetes‐specific enteral formulas in hospitalized patients. Method: A systematic review of the best available evidence to answer a series of questions regarding glucose control in adults receiving parenteral or enteral nutrition was undertaken and evaluated using concepts adopted from the Grading of Recommendations, Assessment, Development and Evaluation working group. A consensus process was used to develop the clinical guideline recommendations prior to external and internal review and approval by the A.S.P.E.N. Board of Directors. Results/Conclusions: 1. What is the desired blood glucose goal range in adult hospitalized patients receiving nutrition support? We recommend a target blood glucose goal range of 140–180 mg/dL (7.8–10 mmol/L). (Strong) 2. How is hypoglycemia defined in adult hospitalized patients receiving nutrition support? We recommend that hypoglycemia be defined as a blood glucose concentration of <70 mg/dL (<3.9 mmol/L). (Strong) 3. Should diabetes‐specific enteral formulas be used for adult hospitalized patients with hyperglycemia? We cannot make a recommendation at this time.
Place, sorting effects and barriers to enterprise in deprived areas: Different problems or different firms?
Authors: Lee Neil , Cowling Marc
Published: June 2012

Policies to stimulate enterprise in deprived areas typically attempt to remove the specific obstacles faced by firms in deprived locations. Yet there is little evidence that firms in deprived areas actually perceive different problems to those in more affluent places. Alternatively, different types of firms may locate in deprived places. This article uses a sample of 7670 English SMEs to investigate this issue. It asks two questions: Do firms in deprived areas perceive different barriers to success than other firms? And is this because of their location (a ‘place’ effect) or other characteristics (a ‘firm’ effect)? We find only limited evidence that ‘place’ effects are in operation: of nine potential obstacles only a lack of access to finance is significant, controlling for other firm characteristics. However, this finding may be important given that firms in deprived areas are equally likely to be growth orientated.
Successful percutaneous closure in patients with difficult atrial septal defects: case series and review of literature
Authors: Alizade E , Ozkan B , Acar G , Karabay CY , Bulut M , Koyuncu A , Guler A , Esen AM
Published: June 2012

Atrial septal defect is a common form of congenital heart disease. Percutenous closure is an important treatment option for these patients. In this case series, we intend to share the percutaneous closure of the difficult types of secundum atrial septal defects.
Evaluation of four pediatric cardiopulmonary bypass circuits in terms of perfusion quality and capturing gaseous microemboli
Authors: Mathis RK , Lin J , Dogal NM , Qiu F , Kunselman A , Wang S , Ündar A
Published: June 2012

This study compared four pediatric cardiopulmonary bypass (CPB) circuits with four different hollow-fiber membrane oxygenators and their specific reservoirs, Capiox RX15, Quadrox-i pediatric, Quadrox-i pediatric with integrated arterial filter (IAF) and KIDS D101, in a simulated CPB circuit identical to that used in the clinical setting at our institution to test their ability to maintain hemodynamic properties, remove gaseous microemboli (GME), and to test the amount of blood “stolen” by the arterial filter purge line. The circuit was first primed with Ringer’s Lactate solution, then red blood cells were added and the hematocrit was maintained at 30%. A 5-cc bolus of air was injected just proximal to the venous reservoir over a thirty-second interval and GME were monitored using an Emboli Detection and Classification quantifier. Transducers were placed at pre-oxygenator, post-oxygenator and distal arterial line (post-filter) positions. Flow probes were also placed both pre and post filter. The injections were made at three flow rates, hypothermic and normothermic temperatures, and with the purge line in both the opened and closed positions. Six injections were done at each of the 12 experimental conditions. Results demonstrated that GME in the arterial line increased with increasing temperature and flow rate. The Capiox RX15 had the least GME in the arterial line at all experimental conditions. The KIDS D101 had the largest pressure drop and the lowest retention of hemodynamic energy, while the Capiox had the lowest pressure drop. All of the oxygenators had a similar amount of “stolen” blood flow and it was consistently under 10% of the total flow reaching the patient.
A concave indenter on a piezoelectromagneto-elastic substrate or a layer elastically supported
Authors: Rogowski Bogdan
Published: June 2012

Indentation of piezoelectromagneto-elastic half-space or a layer on a two-parameter elastic foundation by a cylindrical indenter with a slightly concave base is considered. Full-field magnetoelectro-elastic solutions in elementary functions are obtained for the case of full contact and half-space. If the axial load is small, the contact area will be an annulus the outer circumference of which coincides with the edge of the punch. The inner circumference will shrink with increasing load and there will be a critical load above which the stratum makes contact with the entire punch base. The contact problem for high loads can therefore be treated by classical methods. The more interested case in which the load is less the critical value and the contact region is annulus remains. By use the methods of triple integral equations and series solution technique the solution for an indentured substrate over an annular contact region is also given. For parabolic and conical concave punches the exact or approximate solutions are obtained for full contact or annular contact region, respectively. For the layer on two-parameter elastic foundation and concave punch approximate solution is established.
Detoxification of medication-overuse headache by a multidisciplinary treatment programme is highly effective: A comparison of two consecutive treatment methods in an open-label design
Authors: Munksgaard Signe B , Bendtsen Lars , Jensen Rigmor H
Published: June 2012

Background: Evidence for optimal medication-overuse headache treatment is lacking. Some experts suggest reduced symptomatic medication with prophylactics from the start of withdrawal, while others suggest a two-month drug-free period with multidisciplinary education.

Aim: To examine the acceptability, feasibility and outcome of these two regimes in a non-randomised open-label study.

Methods: Patients able to undergo outpatient detoxification, with medication-overuse headache that had previously been unsuccessfully treated by specialists and without significant co-morbidities were treated with (A) individual withdrawal with restricted symptomatic medication and prophylactics from Day 1 or (B) a two-month drug-free period and multidisciplinary education in groups. All patients received close one-year follow-up.

Results: Eighty-six of 98 patients completed follow-up. Both treatments proved highly effective—80.0% of Group A and 85.4% of Group B were cured of medication-overuse headache. Headache-frequency reduction was 40.2% in Group A and 38.4% in group B. In 48.9% of group A and 48.8% of group B, headache-frequency reduction was >50%. Programme B required fewer resources from the staff and only 61.9% of these patients needed prophylactics after two months compared with 84.8% in programme A.

Conclusions: Both structured detoxification programmes proved highly effective with one-year close follow-up in previously treatment-resistant patients with medication-overuse headache. We suggest multidisciplinary education for patients in groups and delaying initiation of prophylactics until after the detoxification.
A proposal for revision of hemicrania continua diagnostic criteria based on critical analysis of 62 patients
Authors: Prakash Sanjay , Golwala Purva
Published: June 2012

Background: Misdiagnosis of hemicrania continua (HC) is common. It is diagnosed according to the criteria of the International Headache Society (IHS), but in clinical practice, these criteria seem too restrictive and many hemicrania continua-like headaches remain unclassified.

Subjects and methods: We retrospectively studied the patients fulfilling the IHS criteria for HC. In addition, we identified a group of patients who met all criteria minus cranial autonomic features (HC-A) or minus a complete response to indomethacin (HC-I). We compared epidemiological profiles, clinical features and therapeutic responses to drug(s) between the groups. In addition, we reviewed the literature and critically analysed the diagnostic criteria for HC.

Results: Sixty-two patients with a putative diagnosis of HC were identified. Thirty patients (48%) fulfilled the IHS criteria for HC. Thirty-two (52%) patients failed to satisfy one of the features of HC. Thirteen patients (21%) did not show any evidence of cranial autonomic feature during the episodes of the exacerbations (HC-A). Another 19 patients (31%) did not show a complete response to indomethacin (HC-I). Epidemiological and clinical features of all three groups were compared. None of the differences were statistically significant.

In review of the literature, we noted that cranial autonomic features, a sense of restlessness/agitation during exacerbations, and response to indomethacin (marked to complete) are the specific features of HC. However, these features may not all be present in all cases.

Conclusion: Present diagnostic criteria are too restrictive. We suggest adding the site of pain in the criteria, as described for trigeminal autonomic cephalalgias. Cranial autonomic features, a sense of restlessness during exacerbations, and marked to complete response to indomethacin are three characteristics features of HC. We suggest that the presence of any two may be sufficient to diagnose HC.
Upgrading of a mechanical biological treatment plant with a solid anaerobic digestion batch: a real case study
Authors: Di Maria Francesco
Published: June 2012

The energetic and treatment efficiency analysis of an existing mechanical biological treatment (MBT) plant shows that more than 60% of the 25 kWh consumed per each tonne of non-differentiated waste (NDW) treated is due to the electric fans. About 7.5 kWh per tonne of NDW is used for supplying the process air for stabilizing the waste organic fraction (WOF). Exploitation of the solid anaerobic digestion batch (SADB) for processing the WOF before it enters the aerobic section of the MBT leads to the production of biogas and, when subsequently fed to a gas engine, electric power at a magnitude of about 150 kWh per tonne of WOF, resulting in an energy surplus of about 48 kWh per tonne of NDW treated by the MBT facility. The SADB can also reduce the organic load rate at which the aerobic section operates up to 40%, leading to further positive effects on the whole MBT process.
Radiological restrictions of using red mud as building material additive
Authors: Gu Hannian , Wang Ning , Liu Shirong
Published: June 2012

Red mud remains as residue from the processing of bauxite using different methods. The chemical composition of red mud varies widely with respect to the types of bauxite ore and processing parameters. Red mud samples from Guizhou, China, were investigated using a X-ray fluorescence spectroscope, a quadrupole inductively coupled plasma mass spectrometer and a electron probe micro-analyzer. The results showed that red mud consisted of eight main chemical components—CaO, Al2O3, SiO2, Fe2O3, TiO2, Na2O, K2O and MgO—and dozens of trace elements, including natural radioactive elements, such as uranium and thorium. Gamma spectrometric analysis showed that the values of internal exposure index I Ra and external exposure index I γ of Guizhou red mud were 1.1–2.4 and 2.3–3.5 respectively. Thus, it should not be used as a main building material indiscriminately. The amount of red mud from Guizhou when it is used for main building materials in China should be less than 28–44%.
Emission of polycyclic aromatic hydrocarbons from coal and sewage sludge co-combustion in a drop tube furnace
Authors: Han Jun , Qin Linbo , Ye Wei , Li Yuqi , Liu Long , Wang Hao , Yao Hong
Published: June 2012

The emission characteristics of polycyclic aromatic hydrocarbons (PAHs) during coal and sewage sludge co-combustion were investigated in a laboratory-scale drop tube furnace. The experimental results demonstrated that coal and sewage sludge co-combustion was beneficial in reducing PAH emissions and PAH toxic equivalent (TEQ) concentrations. Meanwhile, the five-ring PAHs were the main contributor in reducing the concentration of PAHs and TEQ. Moreover, the two- and five-ring PAH concentrations decreased as the mass fraction of sewage sludge in the mixture increased from 0% to 100%. It was also found that PAHs from coal mono-combustion was dominated by the four- and five-ring PAHs. As for the sewage sludge mono-combustion, the three- and four-ring PAHs were the principal components.
New routes to flame retard polyamide 6,6 for electrical applications
Authors: Jimenez Maude , Gallou Hélène , Duquesne Sophie , Jama Charafeddine , Bourbigot Serge , Couillens Xavier , Speroni Franco
Published: June 2012

Polyamide 6,6 is used in many industrial fields such as housing materials, transport or electrical engineering applications. Due to its chemical composition, this polymer is easily flammable. As far as the main applications concern electrical and electronic equipments, its flame-retardant properties become an important requirement. The most discriminating tests are the limiting oxygen index, UL94 and glow wire flammability index. The aim is to obtain high limiting oxygen index values, V0 rating at UL94 test for 1.6- or 0.8-mm-thick samples and a validation at 960°C of the glow wire flammability index. The usual way to fire retard polyamide 6,6 consists of incorporating an important loading of fire-retardant additives, which often reduce the intrinsic properties of the polymer. It is also difficult to combine a thin polymer thickness (e.g. 0.8 mm) and a high amount of additives because of processing issues. In this article, we first carried out a rapid screening to determine the best fire retardant for polyamide 6,6 and its optimized amount to achieve the previously defined fire retardant properties. It was shown that an amount of 23% of aluminium diethylphosphinate Exolit OP1230 allows reaching the requirements. Then, carrying out two different surface treatments (coating of polysiloxanes by plasma-enhanced chemical vapour deposition and use of an intumescent waterborne varnish), we have tried to reach the same results. It was shown that the use of surface treatment alone does not allow reaching the objectives. As a consequence, the combination of the bulk approach at low loadings with the surface treatment was investigated. This new route allows the combination of the condensed phase mechanism of the intumescent barrier with the gas phase mechanism of the OP1230 and leads to very good results: the use of 5% of the flame-retardant additives combined with a 100-µm-thick waterborne intumescent varnish leads to better results than a 23% of additive loading.
A study of ignition of timber by incandescent lamp
Authors: An Kebiao , He Yaping , Li Zhenghua , Mi Wenzhong , Wang Jian
Published: June 2012

In this article, a study is reported on the ignition of timber board by an incandescent light. A set of experimental tests were conducted to demonstrate the possibility of such an event. Inference was then made to the possible cause of a fire incident that occurred at a building construction site a few years ago. Theoretical analysis was also conducted based on an ignition model. The model is able to correlate the time to ignition with the distance between the light bulb with a given power output and the timber board.
Dystonia in Childhood
Authors: Pavone Larissa , Burton Justin , Gaebler-Spira Deborah
Published: June 2012

Dystonia is a complex movement disorder that is challenging to identify and quantify. The aim of this article is to review the clinical scales, kinematic measures, and functional implications of dystonia. Clinical measures include the Barry-Albright Dystonia Scale, the Burke-Fahn-Marsden Movement Scale, the Unified Dystonia Rating Scale, the Global Dystonia Rating Scale, and the Movement Disorder-Childhood Rating Scale. The evidence, reliability, and validity of each scale will be outlined. The Hypertonia Assessment Tool will be discussed emphasizing the importance of discriminating hypertonia. The role of kinematic measures in analyzing dystonia will be explored, as well as the potential for its future clinical applications.
Prevalence of Seizures in Children Infected With Human Immunodeficiency Virus
Authors: Samia Pauline , Petersen Reneva , Walker Kathleen G. , Eley Brian , Wilmshurst Jo M.
Published: June 2012

A retrospective study of 354 human immunodeficiency virus (HIV)–infected patients identified a subgroup of 27 children with seizures (7.6%, 95% confidence interval: 5.1%-10.9%). Of the total group, 13% (n = 46) had identifiable neurologic deficits and 30% (n = 107) had developmental delay. Both observations were significantly more frequent in the subgroup of patients with seizures ( P < .001). The median age of patients with seizures was 20 months (range, 8-87 months) and the median baseline CD4 percentage was 13.5% (interquartile range, 8%-23%). Seizures were treated with sodium valproate (n = 11), phenobarbital (n = 3), diazepam (n = 2), lamotrigine (n = 1), and carbamazepine (n = 1). Combination therapy was required for 5 children. Suboptimal valproic acid levels were recorded for 3 patients. When resources are available, antiepileptic drug level monitoring is advised for children who require both antiepileptic and antiretroviral medications to facilitate optimal seizure management.
Unbalanced Translocation Involving Partial Trisomy 9p and Partial Monosomy Yq With Neurodevelopmental Delays
Authors: Lyons Michael J. , Fuller Joshua D. , Montoya Maria del Carmen , DuPont Barbara R. , Holden Kenton R.
Published: June 2012

We present a 4-year-old Honduran boy with mild neurodevelopmental delays, growth delays, dysmorphic features, and small genitalia. Chromosome analysis initially revealed a single X chromosome and a marker chromosome derived from the short arm of chromosome 9 which was consistent with Turner syndrome as only 1 sex chromosome could be identified. However, on further analysis, he was found to have an unbalanced translocation involving the short arm of chromosome 9 and the long arm of the Y chromosome. The translocation resulted in partial trisomy 9p and partial monosomy Yq. The patient’s clinical features are felt to be the result of partial trisomy 9p. In addition, partial monosomy Yq is associated with male infertility. Testing of the patient’s parents was normal, indicating this was a de novo translocation. Additional evaluations of this child and his parents allowed an accurate assessment of his diagnosis, long-term prognosis, and chance of recurrence.
Vigabatrin and Mental Retardation in Tuberous Sclerosis
Authors: Yum Mi-Sun , Lee Eun Hye , Ko Tae-Sung
Published: June 2012

Tuberous sclerosis complex is a genetic disorder resulting in epilepsy and mental retardation. Vigabatrin has shown efficacy in the treatment of infantile spasms caused by tuberous sclerosis complex, but its effects on focal seizures caused by tuberous sclerosis complex have not been determined. We compared the efficacy of vigabatrin in patients with tuberous sclerosis complex–induced focal seizures and infantile spasms and assessed the mental outcomes in both groups. We retrospectively evaluated 31 children with tuberous sclerosis complex and epilepsy, who were treated with vigabatrin in a single tertiary center in Seoul, Korea. Vigabatrin treatment resulted in spasms cessation in 16 of 18 (88.9%) patients with infantile spasms, whereas 6 of 13 (46.2%) patients with focal seizures became seizure free. Initial response to vigabatrin had no effect on intellectual disability. Vigabatrin was highly effective in eliminating infantile spasms caused by tuberous sclerosis complex but was less effective in patients with focal seizures.
Neonatal Stroke and Progressive Leukoencephalopathy in a Child With an ACTA2 Mutation
Authors: Moosa Ahsan N.V. , Traboulsi Elias I. , Reid Janet , Prieto Lourdes , Moran Rocio , Friedman Neil R.
Published: June 2012

Mutations in the smooth muscle–specific isoform of α-actin ( ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome. A unique R179H mutation in ACTA2 has been reported to result in widespread smooth muscle dysfunction affecting vascular and extravascular smooth muscles. We report a 7-year-old girl with an ACTA2 R179H mutation manifesting with neonatal seizures due to multifocal infarcts, asymmetric motor deficits, global developmental delay, spasticity, congenital bilateral mydriasis, and a large patent ductus arteriosus. Serial magnetic resonance imaging (MRI) of the brain over 7 years showed diffuse supratentorial white matter abnormalities consistent with a progressive leukoencephalopathy. Magnetic resonance angiography of the cerebral vessels showed stenosis in the terminal portion of the bilateral internal carotid arteries with fusiform dilation of the proximal segment. Neonatal onset of neurologic symptoms in ACTA2 mutations has not been previously reported. R179H mutation in ACTA2 represents the severe end of the disease spectrum.
Anticonvulsant Medication Errors in Children With Epilepsy During the Home-to-Hospital Transition
Authors: Jones Charlotte , Missanelli Megan , Dure Leon , Funkhouser Ellen , Kaffka Jaimee , Kilgore Meredith , Saag Kenneth , Yu Feliciano , Safford Monika M.
Published: June 2012

Children with epilepsy are at risk of having their anticonvulsant regimens disrupted during the home-to-hospital transition. We sought to estimate the frequency of anticonvulsant medication errors during transition into the hospital in children with epilepsy hospitalized for reasons other than seizures, and to examine factors associated with the occurrence of such errors. We examined the medical records to identify errors related to anticonvulsant administration during the transition into the hospital and we examined potential risk factors for error occurrence. Errors were classified as relating to dosing quantity or missing a dose. Among 120 children, 29 (24%) experienced an anticonvulsant medication error. In a multivariable model, the risk factors of changes in responsibility for anticonvulsant administration and frequency of anticonvulsant administration were strongly associated with increased odds of errors. Anticonvulsant medication errors during the home-to-hospital transition may be unacceptably common in children with epilepsy hospitalized for reasons other than seizures.
Severe Fatigue and Reduced Quality of Life in Children With Hereditary Motor and Sensory Neuropathy 1A
Authors: Jagersma Elbrich , Jeukens-Visser Martine , van Paassen Barbara W. , Meester-Delver Anke , Nollet Frans
Published: June 2012

Severe fatigue and low quality of life are reported by a majority of adult patients with hereditary motor and sensory neuropathy 1A. In children with hereditary motor and sensory neuropathy 1A, the prevalence and impact of fatigue have not been studied yet. In this questionnaire survey, 55 Dutch children (response rate 77%) with genetically confirmed hereditary motor and sensory neuropathy 1A participated (mean age 15 years [standard deviation 2.1]). Prevalence of severe fatigue (based on a cut-off score of the Checklist Individual Strength) was 24%, in contrast to 14% in a Dutch school-based population ( P < .05). Almost all quality-of-life scores (measured with the Child Health Questionnaire–Child Form 87) were significantly worse than population norms ( P < .05). Fatigue severity was associated significantly ( P < .01) with all quality-of-life scores (–0.4 < r < –0.7). In conclusion, severe fatigue and diminished quality of life are more frequent among children with hereditary motor and sensory neuropathy 1A compared to healthy peers. The strong association between fatigue severity and quality of life suggests a negative impact of fatigue on quality of life in these children.
Reduced Retinal Nerve Fiber Layer Thickness and Macular Volume in Pediatric Multiple Sclerosis
Authors: Yılmaz Ünsal , Gücüyener Kıvılcım , Erin Döndü Melek , Yazar Zeliha , Gürkaş Esra , Serdaroǧlu Ayşe , Tepe Nermin , Demir Ercan
Published: June 2012

Retinal atrophy is well known in adult-onset multiple sclerosis but remains unexplored in children. We aimed to determine retinal nerve fiber layer thickness and macular volume in pediatric patients, with and without optic neuritis and their relations with visual evoked potentials. We also examined macular volume changes at month 12. Retinal nerve fiber layer thickness of all quadrants and macular volume were measured in 28 relapsing remitting multiple sclerosis eyes and 30 control eyes using optical coherence tomography and were found reduced in patients compared with controls. This reduction was more prominent in eyes with longer time interval from optic neuritis. Retinal nerve fiber thickness was lower in eyes with delayed visual evoked potentials. Visual evoked potential amplitudes were reduced in affected eyes compared to patients without optic neuritis. Macular volume reduced nonsignificantly in patients at month 12. Retinal atrophy occurs in pediatric multiple sclerosis, and previous optic neuritis accelerates this atrophy.
Children With Developmental Disabilities in India
Authors: Jain Rahul , Juneja Monica , Sairam Smitha
Published: June 2012

This study aimed to identify the age at first concern and age at referral for rehabilitation services in children with developmental disabilities in India. Two hundred fifty-nine children were included and data were collected from the parents. In children with developmental disabilities (excluding autism spectrum disorders), median age at initial concern was 7 months and age at referral for rehabilitation services was 13 months. In children with autism spectrum disorders, median age at initial concern was 24 months and age at referral was 42 months. Physician’s recognition of the condition, single child, institutional delivery and neonatal admission ≥4 days were associated with early referral. The common reasons cited by the parents for delay in services were reassurance by physicians or family members and nonreferral by the physicians. Thus, routine screening for developmental problems (including autism) and improving the awareness of these conditions among physicians and society would lead to early referral.
Cardiac Transplantation in Friedreich Ataxia
Authors: Yoon Grace , Soman Teesta , Wilson Judith , George Kristen , Mital Seema , Dipchand Anne I. , McCabe Jane , Logan William , Kantor Paul
Published: June 2012

In this article, we describe a 14-year-old boy with a confirmed diagnosis of Friedreich ataxia who underwent cardiac transplantation for left ventricular failure secondary to dilated cardiomyopathy with restrictive physiology. His neurological status prior to transplantation reflected early signs of neurological disease, with evidence of dysarthria, weakness, mild gait impairment, and limb ataxia. We review the ethical issues considered during the process leading to the decision to offer cardiac transplantation.
Clinical Features of Friedreich Ataxia
Authors: Delatycki Martin B. , Corben Louise A.
Published: June 2012

Friedreich ataxia, the most common hereditary ataxia, affects approximately 1 per 29,000 white individuals. In about 98% of these individuals, it is due to homozygosity for a GAA trinucleotide repeat expansion in intron 1 of FXN; in the other 2%, it is due to compound heterozygosity for a GAA expansion and point mutation or deletion. The condition affects multiple sites in the central and peripheral nervous system as well as a number of other organ systems, resulting in multiple signs and symptoms. Onset of this autosomal recessive condition is usually in the first 2 decades of life. Major clinical features include progressive ataxia, absent lower limb reflexes, upgoing plantar responses, and peripheral sensory neuropathy. The main nonneurological sites of morbidity are the heart, resulting in cardiomyopathy, and the pancreas, resulting in diabetes mellitus. In this review, we provide an overview of the clinical features of Friedreich ataxia and discuss differential diagnoses.
Acute Myelopathy With Normal Imaging
Authors: Holland Neil R.
Published: June 2012

A 17-year-old girl presented with rapidly progressive quadriparesis and ventilatory failure. The clinical findings indicated a spinal level, but the diagnosis of myelopathy was not supported by her initial spinal imaging and cerebrospinal fluid studies. She had completed treatment for Guillain-Barré syndrome before a follow-up spinal imaging study showed interval expansion and enhancement of the cervical cord.
Novel Diagnostic Paradigms for Friedreich Ataxia
Authors: Brigatti Karlla W. , Deutsch Eric C. , Lynch David R. , Farmer Jennifer M.
Published: June 2012

Friedreich ataxia is the most common inherited ataxia, with a wide phenotypic spectrum. It is generally caused by GAA expansions on both alleles of FXN, but a small percentage of patients are compound heterozygotes for a pathogenic expansion and a point mutation. Two recent diagnostic innovations are further characterizing individuals with the phenotype but without the classic genotypes. First, lateral-flow immunoassay is able to quantify the frataxin protein, thereby further characterizing these atypical individuals as likely affected or not affected, and providing some correlation to phenotype. It also holds promise as a biomarker for clinical trials in which the investigative agent increases frataxin. Second, gene dosage analysis and the identification of affected individuals with gene deletions introduce a novel genetic mechanism of disease. Both tests are now clinically available and suggest a new diagnostic paradigm for the disorder. Genetic counseling issues and future diagnostic testing approaches are considered as well.
Cross-Sectional Analysis of Electrocardiograms in a Large Heterogeneous Cohort of Friedreich Ataxia Subjects
Authors: Schadt Kimberly A. , Friedman Lisa S. , Regner Sean R. , Mark George E. , Lynch David R. , Lin Kimberly Y.
Published: June 2012

Electrocardiographic (ECG) findings in Friedreich ataxia and their relation to disease characteristics have not been well described. In this retrospective cross-sectional study, the authors reviewed baseline ECGs from 239 children and adults with Friedreich ataxia. ECG abnormalities—assessed in relation to participant age, sex, shorter guanine-adenine-adenine triplet repeat length, age of disease onset, and functional disability score—were found in 90% of subjects, including nonspecific ST-T wave changes (53%), right axis deviation (32%), left ventricular hypertrophy (19%), and right ventricular hypertrophy (13%). Female sex and shorter guanine-adenine-adenine repeat lengths were associated with a normal ECG ( P = .004 and P = .003). Males and those of younger age were more likely to show ventricular hypertrophy ( P = .006 and P = .026 for left ventricular hypertrophy and P < .001 and P = .001 for right). Neurologic status as measured by the functional disability score did not predict ECG abnormalities.
Friedreich Ataxia
Authors: Pandolfo Massimo
Published: June 2012

Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of inheritance. The disease is noted for a constellation of clinical symptoms, notably loss of coordination and a variety of neurologic and cardiac complications. More recently, scientists have focused their research on an array of general investigations of the underlying cellular basis for the disease, including mitochondrial biogenesis, iron-sulfur cluster synthesis, iron metabolism, antioxidant responses, and mitophagy. Combined with investigations that have explored the pathogenesis of the disease and the function of the protein frataxin, these studies have led to insights that will be key to identifying new therapeutic strategies for treating the disease.
Auditory Processing Deficits in Children With Friedreich Ataxia
Authors: Rance Gary , Corben Louise , Delatycki Martin
Published: June 2012

Friedreich ataxia is a neurodegenerative disease with an average age of onset of 10 years. The authors sought to investigate the presence and functional consequences of auditory neuropathy in a group of affected children and to evaluate the ability of personal FM-listening systems to improve perception. Nineteen school-aged individuals with Friedreich ataxia and a cohort of matched control subjects underwent a battery of auditory function tests. Sound detection was relatively normal, but auditory temporal processing and speech understanding in noise were severely impaired, with children with Friedreich ataxia typically able to access less than 40% of the information available to controls. Use of FM-listening devices did, however, improve the speech perception performance of those with Friedreich ataxia to the level of their unaffected peers in conditions designed to replicate the listening environment of the average school classroom.
Effectiveness and Safety of Donepezil in Boys With Fragile X Syndrome
Authors: Sahu Jitendra Kumar , Gulati Sheffali , Sapra Savita , Arya Ravindra , Chauhan Sandeepa , Chowdhury Madhumita Roy , Gupta Neerja , Kabra Madhulika , Gupta Y. K. , Dwivedi S. N. , Kalra Veena
Published: June 2012

The present study was designed as a 12-week, randomized, double-blind, placebo-controlled pilot study to evaluate the effectiveness and safety of donepezil in boys with fragile X syndrome. Twenty boys with fragile X syndrome were randomized to receive 12 weeks of treatment with either placebo or donepezil (2.5 mg daily for initial 4 weeks followed by 5 mg daily for next 8 weeks). The outcome measures included change in intelligence quotient scores on Stanford-Binet Intelligence Scale (Hindi adaptation by Kulshrestha), change in behavioral scores by Conners 3 Parent Rating Scale (Short) and Childhood Autism Rating Scale, safety, and tolerability of donepezil. The study failed to show significant difference in intelligence quotient and behavioral scales with donepezil therapy over 12 weeks. However, donepezil appeared to be safe and well tolerated.
Frequency determination in control applications: excitation-based approach
Authors: Stotsky Alexander
Published: June 2012

New algorithms for estimation of the frequencies of oscillating waveform signals are described. A model of the signals is presented in the form of a linear difference equation with unknown coefficients, which define the frequencies and amplitudes. Coefficients are estimated utilizing the property of the persistence of excitation of oscillating signals. Exponentially damped and oscillating signals are described in a unified framework. A property of excitation is proved for an exponentially damped signal that contains a single frequency via diagonal dominance of an information matrix. Two applications of this frequency estimation technique are considered. The first one is filtering of the wind speed signal in wind turbine control applications, and the second one is the frequency estimation of exponentially damped signals motivated by the engine knock detection applications.
Hydroxycloroquine-induced oxidative stress on sciatic nerve and muscle tissue of rats
Authors: Uzar E , Ozay R , Evliyaoglu O , Aktas A , Ulkay MB , Uyar ME , Ersoy A , Burakgazi AZ , Turkay C , Ilhan A
Published: June 2012

The aim of this study was to investigate the role of hydroxychloroquine (HCQ)-induced oxidative stress on sciatic nerve and muscle tissues of rats. The oxidant/antioxidant parameters in the sciatic nerve and muscle tissues were analyzed, and stereological analysis of the sciatic nerve was performed. Levels of malondialdehyde and nitric oxide in the tissues were significantly higher in the HCQ group than in the control group ( p < 0.05). In addition, activities of superoxide dismutase and glutathione peroxidase were found to be significantly higher in the HCQ group than the control group ( p < 0.05). There were significant decreases in nerve fiber diameter and myelin sheet thickness in the HCQ group compared with the control group ( p < 0.05). These results revealed that HCQ might increase oxidative stress on sciatic nerve and muscle tissues of rats, which may correlate with axonal atrophy in sciatic nerves.
Altered expression of hepatic metabolic enzyme and apoptosis-related gene transcripts in human hepatocytes treated with trichloroethylene
Authors: Xu XY , Liu YF , Lu LW , Ke YB , Mao JY , Mao KL
Published: June 2012

Trichloroethylene (TCE) is a common organic solvent that has been widely used in industrial applications. Hundred cases of allergic reactions occurred after the workers were occupationally exposed to TCE in China in the past decade, but the underlying effector mechanisms of TCE remain unclear. The purpose of the present study is to examine the alteration of hepatic metabolic enzyme gene and apoptosis-related gene messenger RNA (mRNA) expression in L02 human hepatocytes (L02 cells) after treatment with TCE. L02 cells were cultured either with various doses of TCE (0.25, 0.5, 1.0 and 2.0 mmol/L) for 24 h or with a single dose of TCE (1.0 mmol/L) for different time intervals, whereas samples treated with dimethyl sulfoxide served as control. Quantitative real-time polymerase chain reaction analysis was performed to detect the mRNA expression of hepatic metabolic enzyme genes ( CYP1A2, CYP3A4 and CYP2E1) and apoptosis-related genes ( BAX and BAD). It was found that the transcript levels of hepatic metabolic enzyme genes and apoptosis genes including BAX and BAD were significantly increased after TCE treatment at various doses for 24 h when compared with controls. Additionally, when the cells were treated with a single dose of TCE (1.0 mmol/L) for different periods of time (3, 6, 12 and 24 h), the mRNA expression of these genes also increased significantly compared with control ( p < 0.05 or p < 0.01). The conclusion of the study is that TCE could induce alteration of mRNA expression of hepatic metabolic enzyme genes and apoptosis genes, which might be implicated in the effector mechanisms of TCE cytotoxicity in vivo.
Recreational use and overdose of ingested processed cannabis (Majoon Birjandi) in the eastern Iran
Authors: Mehrpour O , Karrari P , Afshari R
Published: June 2012

In the eastern Iran including Birjand and Greater Khorasan areas, a special traditional solid pie, locally called Majoon Birjandi (MB), is frequently abused by youngsters to induce a feel of high, special, euphoria, and energy. Cannabioid ingredients of this illicit solid lozenge are confirmed by clinical findings as well as positive urinary delta-q-tetrahydrocannabinol (THC) test. Because of its solid nature, it is easily smuggled and stored for a long time. Due to its localized usage in the eastern Iran, diagnosis of MB abuse is not known to toxicologists even from other parts of this country. We would like to bring to the attention of the readers the effects and cannabioid composition of this concoction and present the potential recreational ingestion root of processed cannabis for the first time.
Increased oxidative stress is associated with the development of organophosphate-induced delayed neuropathy
Authors: Masoud A , Sandhir R
Published: June 2012

Organophosphate-induced delayed neuropathy (OPIDN) is a progressive neuropathic disorder that manifests in days to weeks following exposure to an acute dose of organophosphates. The precise mechanism involved in the development of OPIDN is not clear as it develops after many days of the cessation of cholinergic crisis. The present study has been designed to understand the role of oxidative stress in the development of OPIDN, wherein neuropathy was developed by the administration of acute dose of monocrotophos (MCP) or dichlorvos (2,2-dichlorovinyl dimethyl phosphate (DDVP)) to rats. Significant motor deficits in terms of reduced spontaneous locomotor activity and performance on narrow beam test were observed after 14 days of exposure to MCP or DDVP, which persisted even on day 28, suggesting the development of OPIDN. Rats with OPIDN also exhibited an increase in malondialdehyde levels along with a decrease in thiol content in cerebral cortex, cerebellum and brain stem. Concomitantly, the activities of antioxidant enzymes, superoxide dismutase, catalase, glutathione peroxidase and glutathione reductase were reduced in the three brain regions. The biochemical and functional changes were associated with histological alterations in the brain regions studied. The results clearly indicate that the development of OPIDN is mediated in part through an increased oxidative stress and suggest that the strategies aimed at restoration of antioxidant capacity may be beneficial for the individuals with OPIDN-like symptoms.
Gene expression of cytokines (TNF-α, IFN-γ), serum profiles of IL-17 and IL-23 in paediatric systemic lupus erythematosus
Authors: Rana A , Minz RW , Aggarwal R , Anand S , Pasricha N , Singh S
Published: June 2012

Objective: Paediatric systemic lupus erythematosus (pSLE) exhibits an aggressive clinical phenotype and severe complications commonly renal involvement. This could be reflective of the ongoing chronic pro-inflammatory cytokine milieu. We examined relative gene expression of tumour necrosis factor-alpha (TNF-α), interferon-γ (IFN-γ) and serum levels of interleukin-17 (IL-17) and IL-23 and their association with SLEDAI (SLE disease activity index) score and organ manifestations in pSLE. Methods: We enrolled 40 pSLE patients (age 5–16 years, on treatment) and 20 age-matched healthy controls. Relative gene expression levels of IFN-γ and TNF-α in the peripheral blood were determined by quantitative real-time reverse transcriptase polymerase chain reaction (RT-PCR). β actin gene was used for normalization of gene expression. Serum levels of IL-17 and IL-23 were determined by solid phase sandwich ELISA. Statistical analysis were carried out for comparing (Mann-Whitney U test) and correlating data (Univariate, multivariate analysis and Pearson correlation test) with SLEDAI scores and clinical manifestations. Results: Over-expression of TNF-α and IFN-γ was found in 90% (36/40) and 80% (32/40) of pSLE patients, respectively. The relative gene expression of TNF-α and IFN-γ were significantly correlated with renal manifestations ( p < 0.05). Further, relative expression of IFN-γ gene correlated significantly with skin manifestations and SLEDAI ( p < 0.05). Serum levels of IL-17 (766.95 ± 357.83 pg/ml) and IL-23 (135.4 ± 54.23 pg/ml) in pSLE were significantly higher than in controls (IL-17, 172.7 ± 39.19 pg/ml and IL-23, 21.15 ± 10.99 pg/ml) ( p < 0.05). Patients with cutaneous ( p = 0.002) and haematological involvement ( p = 0.003) had high serum IL-17 levels. Serum IL-17 levels correlated with SLEDAI ( r = 0.447; p < 0.05). Conclusions: In this preliminary study, we observed a persistent, strong pro-inflammatory cytokine milieu in pSLE patients which reflects ongoing inflammatory damage in different organs. The gene expression profile of these cytokines may be used for assessing organ involvement in pSLE. IL-17 may also serve as a prognostic marker in pSLE. However, longitudinal studies on treatment of naïve patients are required to corroborate these findings.