bluuebunny/crossref_metadata_2025 huggingface dataset:
Clinical observation of 14 cases of childhood polyarteritis nodosa in Japan
Authors: MAEDA MOTOHARU , KOBAYASHI MUNEMITSU , OKAMOTO SHIZUKA , FUSE TOMOKO , MATSUYAMA TSUYOSHI , WATANABE NOBUO , FUJIKAWA SATOSHI
Published: January 2011

An epidemiological survey of childhood polyarteritis nodosa was conducted at 1290 hospitals followed by a secondary survey of hospitals that had therapeutic experience with the disease. Fourteen cases obtained from these surveys were studied clinically. The male‐female ratio was 4:3. The mean age at onset was 10.6 years. To established the diagnosis, skin biopsy was performed in 43%, retrograde aortography in 21%, and kidney biopsy in 14% of cases. Non‐specific symptoms such as fever (86%), skin eruption (50%), arthritis (50%), myalgia (50%), abdominal pain (43%) and hypertension (36%) were often noted as clinical findings at the initial visit. Throughout the clinical course, symptoms considered to be caused by local angiopathy, including interrupted blood circulation, were frequently noted. On blood tests, no specific findings other than acute inflammatory reaction were observed. Steroid preparations were used for treatment in all cases but one, and about half of them are presently free from steroids. Immunosuppressants were administered in 10 cases. As for prognosis, all patients are alive, but untoward sequelae were noted in 36% of cases. The results of the present survey reinforced the difficulty of establishing a final differential diagnosis because specific findings were scarce for this disease, as stated in previous reports. Establishing a method for early diagnosis by gathering and analyzing more data in detail will be necessary in the future.
Granulocyte elastase activity measurement in the cerebrospinal fluid of patients with purulent meningitis
Authors: TAKASAKI JIRO , OGAWA YUNOSUKE
Published: January 2011

Measurements were made of the granulocyte elastase activity and the concentration of granulocyte elastase α1‐proteinase inhibitor complex (E‐α1 PI) in the cerebrospinal fluid (CSF) of patients with purulent meningitis and aseptic meningitis. Granulocyte elastase activity was determined by the cleavage of methoxysuccinyl‐L‐(alanyl)2‐prolyl‐valyl‐p‐nitroanilide peptide substrate. The E‐α1 PI concentration was assayed with an enzyme immunoassay technique. Granulocyte elastase activity in the CSF on admission was significantly higher in patients with purulent meningitis (800 ± 539 μg/L; mean ± SD) than in patients with aseptic meningitis (< 10 μg/L). Granulocyte elastase activity in the CSF of patients with purulent meningitis decreased rapidly except for two patients who subsequently developed hydrocephalus. There was a weak correlation between granulocyte elastase activity and the concentration of E‐α1 PI in the CSF with purulent meningitis (n = 67, r = 0.48, P < 0.01). However, some samples of CSF showed a marked discrepancy between granulocyte elastase activity and E‐α1 PI concentration, indicating the importance of measuring granulocyte elastase activity in the CSF to estimate tissue injury.
OKT3 therapy for transfusion‐associated graft‐versus‐host disease in a neonate
Authors: MURAKAMI TOMOAKI , SEGUCHI MASASHI , NAKAZAWA MAKOTO , MOMMA KAZUO
Published: January 2011

Transfusion‐associated graft‐versus‐host disease (TA‐GVHD) is a fatal side effect of blood transfusion. The present study describes a case of TA‐GVHD in a neonate treated with anti‐CD3 monoclonal antibody (OKT3). The patient died of systemic bacterial infection. However, it is suggested that OKT3 suppressed the graft‐versus‐host reaction due to the improvement in the clinical signs and a change in the human leucocyte antigen (HLA) type on the surface of circulating lymphocytes. A relatively large dose of OKT3 together with steroid pulse therapy and cyclosporin A may be required for the control of TA‐GVHD in neonates.
Vitamin D‐dependent rickets type I and type II
Authors: TAKEDA EIJI , YAMAMOTO HIRONORI , TAKETANI YUTAKA , MIYAMOTO KEN‐ICHI
Published: January 2011

Two distinct hereditary defects, vitamin D‐dependent rickets type I (VDDR I) and type II (VDDR II), have been recognized in vitamin D metabolism. VDDR I is suggested to be a deficiency of the renal 25‐hydroxyvitamin D (25(OH)D)‐1α‐hydroxylase. Muscle weakness and rickets are the prominent clinical findings. A normal physiologic dose of 1α‐hydroxyvitamin D3 and 1,25‐dihydroxyvitamin D3 is sufficient to maintain remission of rickets in this disorder. VDDR II consists of a spectrum of intracellular vitamin D receptor (VDR) defects and is characterized by the early onset of severe rickets and associated alopecia. This can be attributed to mutations in the VDR gene. Massive doses of vitamin D analogs and calcium supplementation is usually required for the treatment; however, the response to therapy is sometimes variable.
Achondroplasia: Recent advances in diagnosis and treatment
Authors: TANAKA HIROYUKI
Published: January 2011

Achondroplasia (ACH) is the most common form of chondrodysplasia in humans. This disorder is inherited as an autosomal dominant trait, though most cases are sporadic. Recent advances in molecular biology have revealed its genetic defect in fibroblast growth factor‐3 gene. This may introduce a new diagnostic tool and the classification of ACH and related disorders. Recent molecular engineering techniques have made it possible to provide large amounts of the various kinds of biofactors, such as erythropoietin, granulocyte colony stimulating factor and human growth hormone (GH), for clinical use. In fact, GH has been widely used to treat non‐GH‐deficient forms of short stature, such as Turner's syndrome, skeletal dysplasia, intrauterine growth retardation, chronic illness and idiopathic short stature, with beneficial effects. This may also be introduced into the medical management of ACH.
Minimization of the number of pregnant women to be treated with preventive procedure against GBS infection by means of antibody measurement
Authors: HOSHINA KIYOSHI ,   THE GBS INFECTION STUDY GROUP
Published: January 2011

To study preventive strategies, it is essential to screen pregnant women having group B Streptococcus (GBS) infection in the birth canal. For the purpose of studying preventive measures against this infection, nationwide multicenter research was performed in GBS‐carrying pregnant women. Of a total of 10 267 pregnant women, 1860 cases (18.1%) had GBS. The most common serotypes of detected GBS were type NT6 and JM9, followed by type III, type Ia and then type Ib. Type‐specific antibody titer was below the cut‐off point of 10 units/mL in 30.9% of Ia carriers, 58.5% of Ib carriers, 45.9% of II carriers and 32.9% of III carriers. Fortunately, no neonatal GBS infection occurred during this research. We concluded that 18.1% of studied pregnant women were GBS carriers and one‐third of these GBS carriers required preventive procedures with antibody measurement.
Problems on the diagnosis of sudden infant death syndrome
Authors: HATA KATSUHIKO , FUNAYAMA MASATO , TOKUDOME SHOGO , MORITA MASAHIKO
Published: January 2011

Various autopsy cases of sudden unexpected death (SUD) in infancy were examined at the Tokyo Medical Examiner's Office between 1985 and 1994. More than half of the SUD were diagnosed as sudden infant death syndrome (SIDS), but a number of other causes, such as mechanical asphyxia, were also diagnosed. SIDS is diagnosed by autopsy, but there are no clear diagnostic criteria differentiating SIDS from other causes of SUD. SUD is diagnosed as SIDS when other causes are excluded, but it is difficult to distinguish between SIDS and mechanical asphyxia. There was not a large difference in autopsy findings, or in death scene or statistical data, between SIDS and non‐SIDS cases. In their estimation of the diagnostic ratio of SIDS to other causes of death, medical examiners might be divided into three groups: ‘SIDS tolerationist’ examiners think that SUD should be positively diagnosed as SIDS, insofar as another cause of death is not proved clearly. A second group of examiners might be regarded as ‘SIDS exclusionist’; these consider microscopic findings or peculiar death scenes as important contributing factors leading to death. The third group represents a middle stance somewhere between these two. We thought that (forensic) pathologists as well as medical examiners in Japan might have differing stances on SIDS diagnosis. The statistical analysis of SIDS in certain research areas may be affected by the diagnostic ‘preference’ of pathologists belonging to a certain institute.
Ganglioneuroma of left adrenal gland in a patient with Turner syndrome during growth hormone therapy
Authors: MATSUOKA HISAFUMI , SHIBATA ERI , IKEZAKI AYAKO , KIM HYE SOOK , YAMAZAKI KIMIE , MURATA MITSUNORI
Published: January 2011

We report on a Japanese girl with Turner syndrome (45,XO) who developed ganglioneuroma of the left adrenal gland during growth hormone (GH) therapy. She had received GH replacement therapy from the age of 6.8 years. At the age of 10.3 years, abdominal ultrasonography revealed a mass which occupied the upper area of her left kidney. Computed tomography and magnetic resonance imaging of the abdomen showed a low density mass with a smooth surface located between the upper portion of the left renal vein and the pancreas. Microscopic examination resulted in a diagnosis of ganglioneuroma of the left adrenal gland. At present we cannot conclude that patients who have received GH replacement therapy are at higher risk for developing tumors compared to those without GH replacement therapy.
A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs
Authors: TEMOĈIN A. KüBRA , YüKSEL BILGIN , TUNCER RECEP , ÖZER GüLER , ZORLUDEMIR üNAL
Published: January 2011

A 7‐year‐old patient is reported with a 46,XY karyotype, ambiguous genitalia and unilateral amelia and unilateral peromelia of the upper limbs. The external genitalia had essentially a female configuration with labia majora, large clitoris, and narrow vaginal opening. Gonadal tissue was not palpable on either side. The levels of 17‐OH progesterone dehydroepiandrosterone sulfate (DHEA‐S), androstenedione and luteinizing hormone (LH) were normal, but the level of follicle stimulating hormone (FSH) was elevated minimally. Abdominal ultrasonography (USG) was normal. On pelvic USG, neither uterus nor ovaries were seen. Genitography showed a blind vagina. Gonads, Müllerian and/or Wolffian structures were not observed at laparotomy. Clitoral recession and cut‐back vaginoplasty were performed. The occurrence of these findings suggests embryonic testicular regression syndrome with bilateral transverse defect of the upper limbs. The case has been presented because the pattern of the birth defects, including both ambiguous genitalia and unilateral amelia on one side of the upper limbs and unilateral peromelia in the other, have not been described previously.
Acute tubulointerstitial nephritis associated with piperacillin therapy in a boy with glomerulonephritis
Authors: TANAKA HIROSHI , WAGA SHINOBU , KAKIZAKI YOSHIKI , TATEYAMA TAKASHI , KODA MAKOTO , YOKOYAMA MASARU
Published: January 2011

An 11‐year‐old boy with glomerulonephritis developed acute renal failure 4 days after beginning piperacillin (PIPC) treatment. Renal biopsy revealed acute tubulointerstitial nephritis (ATIN) with marked eosinophils. A lymphocyte stimulation test (LST) for PIPC demonstrated an extremely high LST index of 626%. The serum levels of immunoglobulin E and eosinophil cationic protein also showed a significant increase at 9021 IU/mL and greater than 150 μg/L, respectively. These observations suggest that a hypersensitivity reaction might play a role in the pathogenesis of ATIN. This is the first report to describe PIPC‐induced ATIN in a child.
Fatty acid compositions of colostrum, cord blood, maternal blood and major infant formulas in Japan
Authors: YOUNG CHAINLLIE , HIKITA TOSHIYUKI , KANEKO SONO , SHIMIZU YUKIKO , HANAKA SATOKO , ABE TOSHIAKI , SHIMASAKI HIROYUKI , IKEDA RITSUKO , MIYAZAWA YUKIHISA , NAKAJIMA AKIRA
Published: January 2011

Lipid profiles in colostrum, cord blood, maternal blood and major infant formulas in Japan were analyzed. In the first part of the study, colostrum obtained from 36 normal delivery women and six kinds of infant formulas provided by three major milk companies were analyzed for their fatty acid composition using capillary gas‐lipid chromatography. Although enriched with docosahexaenoic acid (DHA), the percent composition of DHA in the six infant formulas (0.15–0.21%) was significantly lower than that in the colostrum (1.1 ± 0.54). Arachidonic acid (AA) and eicosapentaenoic acid (EPA) were present in the colostrum but not detectable in the infant formulas. It is recommended that although the exact amount of specific fatty acids needed in the infant diet was not completely known, to be as close as possible to natural breast milk, the level of DHA, EPA and AA should be raised in the infant formulas. In the second part of the study, 19 pairs of maternal and cord blood were analyzed for their lipid profile. All samples were from normal vaginal delivery. The measurement of cholesterol, triglycerides, phospholipids and free fatty acids was performed with commercially available enzymatic methods on an automated discrete random access analyzer. Total fatty acid was determined as described in the first part of the study. The results were analyzed with Spearman's rank correlation coefficient. No correlation could be found between maternal and fetal concentrations of cholesterol, triglycerides, phospholipids or total fatty acids. Correlation could be found in non‐esterified fatty acids, in palmitic acids, and oleic acid levels. It was concluded that the lipid transport and metabolism in the fetal‐placenta unit is complex and further delicate investigation is required.
Arthritis in a patient with homozygous familial hypercholesterolemia
Authors: GENEL FERAH , ATLIHAN FüSUN , BAK MUSTAFA , TARGAN ŞEREF , DIZDARER CEYHUN
Published: January 2011

Familial hypercholesterolemia is a disorder of lipoprotein metabolism characterized by elevated cholesterol, low‐density lipoprotein cholesterol, xanthomas and early onset atherosclerosis. Tendinitis and arthritis have been reported in patients with familial hypercholesterolemia. A report is presented of a 9‐year‐old girl with an acute arthritic attack who was diagnosed as homozygote familial hypercholesterolemia with hypercholesterolemic arthritis.
Three cases of pyogenic sacro‐iliitis, and factors in the relapse of the disease
Authors: TOKUDA KOICHI , YOSHINAGA MASAO , NISHI JUN‐ICHIRO , TAKAMATSU NAOMI , IKARIMOTO NAOAKI , MATSUDA YUKIHISA , IMAKYUREI NAOHISA , OKUBO KOICHI , NAKAZONO SHIN‐ICHI , MIYATA KOICHIRO
Published: January 2011

Pyogenic sacro‐iliitis (PS) is a rare disease in childhood. Three cases of PS are reported that were difficult to diagnose. Scintigraphy and magnetic resonance imaging (MRI) were useful for diagnosis. One patient suffered from an episode of relapse. Seventeen other cases of PS were reviewed in the literature to investigate the incidence of abnormal imaging findings and various factors in disease relapse. It was found that the incidence of abnormal findings by scintigraphy was significantly higher than that by computed tomography (P = 0.0057). The duration of intravenous antibiotic administration of the relapse group (14.7 ± 4.7 days) was significantly shorter than that of the non‐relapse group (24.3 ± 10.7 days; P = 0.0376). The statistical analysis suggested that intravenous antibiotic administration is necessary at least for 20 days to prevent a relapse of PS.
MARKET‐DEMAND BOOSTING AND PRIVATIZATION IN A MIXED DUOPOLY
Authors: Han Lihua , Ogawa Hikaru
Published: January 2011

This study incorporates demand‐boosting strategies into a mixed duopoly model in order to consider the endogenous determination of market demand. The results indicate equilibrium characteristics that differ from those found under an exogenous demand setting. As consumers become more sensitive to the demand‐boosting strategies of firms, the government must choose a lower level of privatization. This suggests that the responsiveness of consumer demand to the demand‐boosting strategies of firms constitutes a limiting factor for privatization.
What are Children's Centres? The Development of CC Services, 2004–20081
Authors: Lewis Jane , Cuthbert Rebecca , Sarre Sophie
Published: January 2011

Children's centres are intended to be a mainstream, universal service. They began in 2004 and their origins are diverse. Some replaced various forms of local provision, most notably Sure Start programmes; others were established from scratch. Issues for exploratory empirical work have been identified from the guidance issued by central government. Using interview data from three urban local authorities, this article explores the nature of the ‘core offer’ that centres are expected to provide and the way in which they have pursued the goal of integrating staff and services. The article highlights the problems of balancing a focus on the child and on the parent; of reconciling childcare provision as part of the employability agenda and as a means to educational achievement for the child; of permitting local variation while achieving consistency; of the role of monitoring in relation to developing good practice; and of achieving integration in a mixed economy of care. We find that despite the greater specification of the core offer for children's centres compared to that for Sure Start, there are substantial differences between children's centres in terms of services, while the mixed economy of provision poses considerable challenges to the goal of integration.
Following Families: Working Lone‐Mother Families and their Children
Authors: Ridge Tess , Millar Jane
Published: January 2011

Analysis of poverty dynamics based on large‐scale survey data shows that there is limited mobility across the income distribution for most individuals and families. This includes lone parents, who are one of the groups most likely to stay poor over time. This high income poverty risk is reduced for those lone parents who are in employment and who receive state financial support through tax credits to supplement their wages. But income security in work can be difficult to achieve. This article reports on longitudinal qualitative research which has involved repeat interviews with lone mothers and their children over a period of three to four years. The analysis explores the experiences of sustaining employment while living on a low, but complex, income and highlights the challenges faced in seeking financial security in this context.
A Narrative Approach to Pregnancy‐related Discrimination and Leader–follower Relationships
Authors: Mäkelä Liisa
Published: January 2011

This study sheds light on women's perceptions of pregnancy‐related discrimination committed by the discriminated woman's immediate leader. The purpose is to show how women describe this perception during pregnancy and after their return to working life after maternity leave. Further, the study explores the ways in which the quality of the leader–follower relationship is revealed during the narration process. The research draws on five individual stories, collected in two rounds of interviews. Representations of several kinds of discriminatory practices can be found in the narratives and reveal that even being a partner in a good‐quality leader–follower relationship does not necessarily protect a woman from pregnancy‐related discrimination. However, women involved in a high‐quality leader–follower relationship described their perceptions in a more positive manner than those in a low‐quality relationship. The contribution of the article to the literature is twofold: firstly, the results challenge the traditional view that high‐quality leader–member exchange relationships lead to positive outcomes. Secondly, examining the different ways in which people describe their perceptions of discrimination deepens our understanding of the equality problems that working women face.
Are Women in Management Victims of the Phantom of the Male Norm?
Authors: Billing Yvonne Due
Published: January 2011

Managerial jobs have conventionally been understood as male and thus as not being directly suitable for women. The point of departure of this discourse is that women and men are different and that there is congruence between men and managerial jobs. On the basis of a qualitative study of women managers, I argue that there is a need for more sophisticated ways of appreciating the experiences of (many) women in relation to management. Variation, complexity and contradictions may be lost when holding onto essentialist understandings such as the male norm.
Intraspinal endometriosis as a possible cause of recurrent back pain and leg monoparesis
Authors: Görtzen A. , Hansten R.L. , Lang W. , Veh R.W.
Published: January 2011

Recurrent back pain and leg monoparesis in a 38 year old woman could be traced back to a focus of intraspinal endometriosis. Upon admission, neurological examination revealed multiple sensory deficits and a proximal spastic paresis of the left leg. The patient complained about backache, which spontaneously disappeared some days later. History taking disclosed a relationship between the transient symptomatology and the menstrual cycle. Magnetic resonance imaging of the spine demonstrated a signal‐intense intraspinal structure at the Th 8/9 level on the 25th day of the menstrual cycle. On follow‐up examination at the beginning of the cycle the previously detected structure had vanished. Intraspinal endometriosis was confirmed by gynecological demonstration of additional endometriosis of the left ovary as well as positive response to treatment with a gonadotrophin releasing hormone analog.
Peripheral iron metabolism in patients with focal cerebral ischemia
Authors: Molina J.A. , Jiménez‐Jiménez F.J. , Ayuso‐Peralta L. , Cabrera‐Valdivia F. , Pérez‐Sempere A. , Egido J.A. , Soriano‐Soriano C. , Gómez‐lzquierdo M. T. , Muñoz‐Rivero M.C. , Fernández‐Calle P.
Published: January 2011

To ascertain the possible role of iron as a risk factor for cerebral ischemia, we studied the serum levels of iron, transferrin and ferritin in 42 patients between the third and seventh days after a cerebral ischemic event (transient ischemic attack, reversible ischemic neurological deficit or cerebral infarction) and in 62 matched controls. The serum levels of iron did not differ significantly between cerebral ischemic patient and control groups. Serum transferrin levels were lower and ferritin higher in stroke patients than in controls. These values were not influenced by age, blood pressure, or smoking and alcohol drinking habits. These results suggest that iron stores could be related to the risk for cerebral ischemia.
Decreased serum selenium concentrations in patients with Parkinson's disease
Authors: Jiménez‐Jiménez F.J. , Molina J.A. , Arrieta F.J. , Aguilar M.V. , Cabrera‐Valdivia F. , Vázquez A. , Jorge‐Santamaría A. , Seijas V. , Fernández‐Calle P. , Martínez‐Para M.C.
Published: January 2011

Selenium is an essential component of the antioxidant enzyme glutathione peroxidase. The activity of this enzyme is reduced in the substantia nigra of patients with Parkinson's disease (PD), but the results of studies on erythrocytes are controversial. We compared the serum levels of selenium and the 24 h urinary selenium excretion (measured by hydride generation atomic absorption spectrophotometry) in 29 PD patients and 30 matched controls. Serum selenium levels were significantly lower in PD patients than in controls (34.6 ± 2.35 and 45.2 ± 3.83 μg/l, p < 0.05) while urinary excretion was similar for both groups (47.1 ± 6.25 and 45.5 ± 5.38 μg/24 h). These values were not influenced by antiparkinsonian drugs, and they did not correlate with age, age at onset and duration of the PD, scores of the Unified PD Rating Scale or the Hoehn and Yahr staging in the PD group. These results might suggest a possible role of low serum selenium levels in the risk for, or a consequence of the oxidative stress in PD.
Natural interferon‐beta in chronic progressive multiple sclerosis: results after 2 years of treatment and 2 years of follow up
Authors: Ghezzi A. , Zaffaroni M. , Filippi M. , Reganati P. , Zibetti A.
Published: January 2011

Seventeen chronic progressive multiple sclerosis patients were treated with natural interferon‐beta (IFN‐β) for 2 years, thereafter they were followed up for 2 years. IFN‐β was given 1 million IU/day i.m. for 1 week, then 3 million IU daily for 3 weeks followed by a maintenance regimen of 2 million IU twice a week for 23 months. Kurtzke Expanded Disability Status Scale score was 5.5 at entry and did not change at the end of the first year. It increased to 5.8 at the end of the second year and to 6.5 at the end of the follow‐up. Three patients worsened after 1 year, six after 2 years and nine at the end of the follow‐up. Brain MRI was performed at entry and after 1 year: mean lesion score increased by 13.4%. MRI changes were not correlated with clinical course. Natural IFN‐β seemed to have some beneficial effect when high doses were given: this effect tended to disappear after IFN‐β was reduced, followed by a more severe disease progression after its withdrawal.
Neuropsychological status of mitochondrial encephalomyopathies
Authors: Lang C.J.G. , Brenner P. , HeuB D. , Engelhardt A. , Reichmann H. , Seibel P. , Neundörfer B.
Published: January 2011

We studied 15 patients suffering from mitochondrial encephalomyopathies (MEM) by a neuropsychological screening procedure. Eight of the patients were diagnosed as having progressive external ophthalmoplegia (PEO), four mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes (MELAS), and three Kearns‐Sayre syndrome (KSS). Based on test results covering memory, orientation, non‐verbal intelligence, drawing, arithmetics, word list generation, trail making and digit span, only four patients were regarded as normal, two in the PEO and two in the KSS groups, while five patients were found to be demented (two patients in the PEO and three patients in the MELAS groups). Although memory problems were very common, it is concluded that no uniform pattern of neuropsychological deficits is seen in MEM, that MELAS patients apparently are severely handicapped cognitively, and that considerable mental deterioration may be seen even with normal computer‐assisted tomography findings.
Temporal lobe epilepsy with bilateral seizure origin studied by [18F]FDG‐positron emission tomography
Authors: Hajek M. , Khan N. , Leenders K.L. , Wieser H.G.
Published: January 2011

Nine patients who underwent presurgical evaluation because of medically refractory temporal lobe epilepsy (TLE) showed either unilateral, although alternating in side, or bilateral simultaneous seizure onsets in both temporal lobes (TL). EEG recordings with semi‐invasive foramen ovale electrodes revealed in seven patients a predominance of seizure onset in one TL of between 50% and 88%. In two patients the majority of seizures originated simultaneously in both TL. In four patients a unilateral selective amygdalohippocampectomy resulted in a good to excellent seizure outcome without noteworthy memory deficits and confirmed the preoperative lateralization of the primary epileptogenic focus by interictal 18F‐fluorodeoxyglucose positron emission tomography (PET). Five patients were rejected from surgery due to strong bilaterality of their epilepsy and/or divergent presurgical findings. PET contributed to the decision of whether surgery should be performed: all patients who underwent surgery had a unilateral TL hypometabolism which was concordant with the findings of other tests. Patients in whom surgery was denied had either bilateral temporal hypometabolism or the PET findings were discordant with other results obtained during the presurgical evaluation.
Eye movements and fixation characteristics in perception of stationary scenes: normal subjects as compared to patients with visual neglect or hemianopia
Authors: Jahnke M.T. , Denzler P. , Liebelt B. , Reichert H. , Mauritz K.‐H.
Published: January 2011

Saccade amplitudes, fixation times, and the spatial distribution of fixation points were comparatively studied in patients with visual hemineglect and/or homonymous hemianopia, as well as in normals (each group,n= 8). Two types of picture slides were presented (with and without search task) while eye movements were recorded with the infrared reflection technique. Self‐developed software served to detect fixations, and to document their spatio‐temporal parameters. Spectra of saccade amplitudes and fixation times were characteristic of each slide, while exhibiting notable similarities across subject groups. It is concluded that foveal information processing may not be much different in patients and in normals. Average saccade amplitudes and total scanpath lengths across all pictures were significantly smaller in the patients than in normals with both types of slides. In the neglect patients, saccades starting and terminating in the unaffected visual hemifield were larger, on an average, than those entirely located in the affected hemifield. The same was true for many of the hemianopic patients. Nevertheless, during free exploration, mean amplitudes of saccades restricted to the unaffected hemifield of the patients were apparently still smaller than those of normal controls within the corresponding hemifield. Average dwell time of fixations, total fixation time, as well as the total number of fixations did not vary significantly between groups. However, in the patient groups, average fixation times were shorter after large as compared to small saccades. This finding is discussed in the context of saccadic programming on the background of the sequential attention model of eye movement control. In subsamples of five hemianopic and six neglect patients, asymmetry in the distribution of fixation points was compared before and after a 4‐week period of comprehensive rehabilitation that Included computerized scanning and attentional training. Only patients with pure hemianopia (who were less severely impaired from the beginning) improved according to this criterion, while neglect patients remained unchanged or deteriorated slightly. Total scanpath lengths, however, were not significantly different before and after therapy in any of the two groups of patients, indicating a persisting disturbance in scanning performance also in the hemianopic group.
Risk factors, diet and carotid atheromatosis in TIAs and minor ischemic strokes (MISs) in a Mediterranean country
Authors: Calandre L , Diaz‐Guzman J. , Ferrero M. , Leon M.
Published: January 2011

Eighty‐two patients with transient ischemic attacks (TIAs) or minor ischemic strokes (MISs) were prospectively recruited from the emergency room of a general hospital within 1 month of the event with the aim of providing a group for comparison — regarding the pathogenetic profile — with similar series from Northern Europe and USA. Patients were asked a diet questionnaire, and serum lipid analysis, CT scan and carotid duplex were performed in each case. Relevant features were antecedents of hypertension in 61%, current smoking in 23.2% and ischemic heart disease in 13.5%; mean serum levels of cholesterol 6.2 mmol/l, LDL‐ C, 4.27, HDL‐C, 1.24, triglycerides 1.45; and duplex evidence of severe extracranial carotid atheromatosis (hemodinamically significant stenosis or occlusion) in 14.4%. Relevant diet data were daily intake of energy, 7.2 MJ, fat 34% of energy and saturated fat 12.6%. Cases with severe carotid atheromatosis had significantly lower levels of HDL‐C, higher levels of triglycerides and lower per cent of energy from monounsaturated fat (p < 0.05 Mann–Whitney test). When compared with series from Northern Europe and USA ours showed lower incidence of severe carotid atheromatosis and ischemic heart disease, lower levels of triglycerides and higher HDL‐C, and lower mean diet energy and proportion of unsaturated fat We suggest that higher HDL‐C and lower triglyceride serum levels could be protective against severe extracranial carotid atheromatosis and that a Mediterranean diet, with less saturated fat and more monounsaturated fat could account in part for this low incidence of severe carotid disease in our TIAs and MISs patients.
A clinical variance in familial amyotrophic lateral sclerosis with a point mutation in Cu/Zn superoxide dismutase gene
Authors: Sakuma R. , Abe K. , Aoki M. , Ikeda M. , Okita N. , Hiwatari M. , Sakurai M. , Itoyama Y.
Published: January 2011

We report here a novel point mutation in exon 5 of the Cu/Zn superoxide dismutase (SOD) gene resulting in an amino acid substitution of valine148 by isoleucine (V148I) in a Japanese family with amyotrophic lateral sclerosis (FALS). In this family, the age at onset was young (28.0 ± 3.8 years old, mean ± SD, n = 4) and the disease progression was rapid (22.0 ± 5.9 months, n = 3) with low Cu/Zn SOD activity (56.3 and 59.0% of the controls, n = 2). It is interesting that the clinical features of ALS varied very much among the affected members. One case had weakness of the lower extremities at first, and died without bulbar paresis. The second case first noticed wasting of the upper limbs with bulbar symptoms, but the third had weakness of upper extremities without developing dysarthria nor dysphagia until death. The living remainder first developed fasciculation of the tongue without weakness of extremities. The valine148 is conserved among different species, and V148I mutation might destabilize dimer formation with another SOD subunit, leading to decrease enzymatic activity. These results suggested that there could be considerable clinical variance among the patients of FALS within one family, carrying the same Cu/Zn SOD mutation such as V148I.
Multiple cerebral hemorrhages as a possible complication of antiblastic treatment with cyclophosphamide, methotrexate and fluoruracil (CMF) for breast cancer
Authors: Maggioni F. , Rossi P. , Zanchin G.
Published: January 2011

In this paper we describe the case of a patient who underwent left breast radical mastectomy and corresponding removal of her axillary lymphonodes, for an infiltrating lobular cancer with massive colonizing (16 of 19 lymphonodes examined), stage T2N2M0. During chemotherapy with cyclophosphamide, methotrexate and 5 fluoruracil (CMF), the patient presented a symptomatology characterized by anarthria and dysphagia. These symptoms were the consequences of multiple cerebral hemorrhages unrelated to alterations in the coagulation process. The temporal relation with the pharmacological treatment and the lack of other explanations of the induced phenomenon lead us to hypothesize a cytotoxic mechanism due to the CMP treatment
Deep cerebral venous thrombosis presenting as acute amnestic syndrome
Authors: Daif A.K. , Awada A. , Rajeh S. Al , Andeejani A.
Published: January 2011

A 45 year‐old man presented with a rapid onset of memory impairment Brain computed tomography showed multiple abnormal low density areas in the deep cerebral white matter. Magnetic resonance imaging revealed bilateral thalamic infarcts and extensive thrombosis of the vein of Galen and the straight sinus, which was confirmed by cerebral angiography. The only potential cause was protein S deficiency. Heparin therapy was started only after the occurrence of a pulmonary embolism. The outcome was excellent Deep cerebral venous thrombosis must be considered as a possible cause of amnestic syndrome. Clinical awareness and early use of anticoagulation may alter the usual fatal outcome.
The accessory nerve repetitive nerve stimulation test: a valuable second‐line test in myasthenia gravis
Authors: Claussen G.C. , Fesenmeier J.T. , Hah J.S. , Brooks J. , Oh S.J.
Published: January 2011

The diagnostic usefulness of the accessory nerve repetitive nerve stimulation (RNS) test was evaluated in 100 patients with myasthenia gravis (MG). The test was easy to perform and reliable at the low rates of stimulation. A higher diagnostic sensitivity was found in the accessory nerve RNS test than in the ulnar nerve RNS test on either the abductor digiti quinti or flexor carpi ulnaris muscles, especially in mild generalized MG. Diagnostic sensitivity was significantly increased when RNS test results for three muscles were combined, especially in mild generalized MG and sero‐positive MG. In a small number of cases only the ulnar or accessory nerve RNS test was abnormal. There was a good correlation between electrophysiological and clinical severity of MG in the accessory nerve RNS test Thus, we conclude that the accessory nerve RNS test is a valuable second‐line test and its greatest usefulness is in cases of mild generalized MG.
Cough syncope with hypertension—caused by brainstem compression?
Authors: Wieshmann U. , Meierkord H.
Published: January 2011

The commonly accepted pathophysiological changes in cough syncope include a fall in systemic blood pressure, raised intracranial pressure and cerebral ischemia. However, cases of cough syncope without hypotension have been reported in patients with the Arnold–Chiari malformation. We describe a 48‐year old man with cough syncopes. Constant blood pressure monitoring revealed hypertension instead of the expected hypotension during the episodes. Attacks of loss of consciousness were associated with motor phenomena, i.e. tonic posturing and tonic spasm. Magnetic resonance imaging revealed compression and displacement of the medulla oblongata by an ectatic and elongated vertebral artery. The commonly accepted mechanism of cough syncope cannot explain the symptoms in our patient because a fall of blood pressure was lacking. Instead, a cough‐induced compression of the displaced brainstem may have caused a transient dysfunction of the reticular formation.
Lamotrigine use in twelve patients with the Lennox–Gastaut Syndrome
Authors: Buchanan N.
Published: January 2011

This brief report describes the effects of lamotrigine on 12 patients with the Lennox–Gastaut Syndrome in an open, uncontrolled study. Three patients are seizure free and five others substantially improved. Seven of these eight patients have shown a marked improvement in quality of life. Lamotrigine is an extremely useful adjunct in the management of the Lennox–Gastaut Syndrome.
MRI in corticobasal degeneration
Authors: Grisoli Marina , Fetoni Vincenza , Savoiardo Mario , Girotti Floriano , Bruzzone Maria Grazia
Published: January 2011

Corticobasal degeneration is a degenerative disease characterized by asymmetric brain atrophy and clinically by asymmetric onset of an akinetic‐rigid syndrome with apraxia, dysarthria and dysphagia. Diagnosis must be confirmed by autopsy. We have investigated the ability of MRI to detect asymmetric atrophy to support the clinical diagnosis and permit differential diagnosis against other degenerative disorders.

Ten patients with clinical suspicion of corticobasal degeneration were studied by brain MRI, and the images were reviewed with the side of greater clinical involvement unknown to the reviewer. The original reports of MR scans were also reviewed.

MRI demonstrates that cortical atrophy is asymmetric and more marked in the posterior frontal and mainly in the parietal regions on the side contralateral to the clinical symptoms. Asymmetry was rarely detected on the first reading.

Our review of MRI findings demonstrates that it is possible to detect asymmetrical parietal atrophy, thus supporting the clinical diagnosis of corticobasal degeneration. It is essential to be aware of the disease and alert for asymmetries in order to discern the more involved side. No abnormalities were detected in the basal ganglia.
Prognostic value of electrodiagnosis in the Dutch Guillain–Barré study
Authors: Meulstee J. , van der Meché F.G.A. , Kleyweg R.P. , Schmitz P.I.M. ,   The Dutch Guillain‐Barré Study Group
Published: January 2011

In the Dutch Guillain‐Barré trial, three EMGs were performed according to a rigid protocol at early stages of the disease in 147 Guillain‐Barré patients who were unable to walk independently. Independent locomotion 8 weeks and 6 months after entry were considered to be the outcome measures of most clinical value. Electrodiagnostic data obtained 1 week after entry were concluded to be most important for studying prognostic value. This has been attributed to the fact that 87% of the patients were in the nadir of their disease at that moment In univariate analysis, CMAP amplitudes of thenar and hypothenar muscles obtained after distal and proximal stimulation, as well as the recruitment pattern on maximal voluntary effort in these tested muscles, were significant predictors for outcome 8 weeks and 6 months after entry to the study. Motor nerve conduction velocity and distal motor latencies of ulnar and median nerves were weak predictors for outcome at 8 weeks after entry. In multivariate analysis the hypothenar CMAP amplitude on distal stimulation and recruitment pattern of abductor digiti minimi muscle both had an independent predictive value for independent locomotion 8 weeks after entry.
The HhaI polymorphism in the CYP2D6 gene is not associated with Parkinson's disease in a Caucasian population
Authors: Nicholl D.J. , Bennett P. , Ramsden D.B. , Ho S.L. , Williams A.C.
Published: January 2011

Polymorphisms of the CYP2D6 gene have been reported in association with susceptibility to Parkinson's disease (PD). In a Japanese population, a HhaI polymorphism in the CYP2D6 gene was associated with a 5.56‐fold risk of PD (Tsuneoka et al., 1993). We investigated the frequency of this polymorphism in Caucasian patients with sporadic PD and in healthy controls. Although the frequency of the polymorphism was significantly higher in Caucasians compared with Japanese, there was no association with PD.
Brain MRI follow‐up of patients with persistent isolated optic neuritis
Authors: Martinelli V. , Rodegher M. , Filippi M. , Rovaris M. , Campi A. , Colombo B. , Comi G.
Published: January 2011

In this study a brain MRI long‐term follow‐up of 19 patients at presentation with Acute Isolated Optic Neuritis (AION), who did not develop further neurological disturbances, was performed to evaluate the frequency of subclinical evolution of the pathological process. At presentation, the brain MRI in nine patients was abnormal and in 10 normal. CSF oligoclonal bands were found in 11 patients, five of whom had normal basal MRI. All patients with abnormal basal MRI had new lesions on follow‐up scans, while only one of the patients with a normal basal brain MRI had multiple lesions on the second scan. Our data suggest that about 50% of patients with AION had subclinical activity, even though there were no new clinical relapses.
Mitochondrial disorders in degenerative ataxias
Authors: Schöls L , Reichmann H. , Amoiridis G. , Seibel P. , Wagener S. , Seufert S. , Przuntek H.
Published: January 2011

Current theory implicates mitochondrial defects in the mechanism of neuronal degeneration in several movement disorders. We performed analyses of mitochondrial function in 61 patients with different forms of degenerative ataxias. Mitochondrial enzyme defects were proven in five of 16 (31V.) patients with Friedreich's ataxia, in 14 of 30 (47%) patients with autosomal dominant late onset cerebellar ataxia, and in three of six (50%) patients with sporadic cerebellar atrophy. No abnormalities were found in secondary forms of cerebellar degenerations (due to paraneoplastic disorder, alcohol or sprue) or in spastic paraplegia. Mitochondrial defects affected most frequently the respiratory chain (19 patients) and especially its complex I (11 patients). Carnitine deficiency was found in three patients and severe loss of myoadenylate deaminase in one patient Genetic abnormalities could be proved neither in mitochondrial DNA nor in recently defined ataxia genes. Our results indicate that mitochondrial dysfunction occurs frequently in cerebellar atrophies. Therefore, disturbance of oxidative energy metabolism may be involved in the pathogenesis of degenerative ataxias, but it remains to be elucidated whether mitochondrial defects are primary or secondary effects.
Intracranial hypertension in Behçet's Disease*
Authors: Akman‐Demir G. , Bahar S. , Baykan‐Kurt B. , Gürvit I. Hakan , Serdaroǧlu P.
Published: January 2011

Among 103 neuro‐Behçet's disease (NBD) patients seen in an 8‐year period, 16 patients with intracranial hypertension (IH) are presented. The main underlying cause of IH was cerebral venous thrombosis (10 patients), and one patient showed vena cava superior thrombosis, while in three patients angiographies and/or MRI studies remained negative. In the remaining two patients the investigations were not adequate to exclude cerebral venous thrombosis. In a mean follow‐up period of 5 years, three patients had one recurrence of IH, and the three cases in whom cerebral venous thrombosis could not be documented despite adequate investigation had frequent relapses. On follow‐up, none of the patients had any other types of neurologic involvement. Among the other manifestations of Behçet's disease thrombophlebitis was significantly higher, whereas uveitis was significantly lower in IH patients when compared with our remaining NBD patients. Intracranial hypertension is one of the major types of neurologic involvement in Behçet's disease, and seems to have different pathogenetic implications, usually with a better outcome than other types of neurologic involvement.
Macroelectromyography in progressive post‐polio muscular atrophy
Authors: Bednařík J. , Kadaňka Z.
Published: January 2011

A prospective 2‐year clinical and macro‐EMG follow up was completed in 30 post‐polio survivors (19 women and 11 men, aged from 46 to 62 years). The median macro‐MUPs amplitudes from either biceps brachii or tibial anterior muscles were estimated. A decrease in muscle strength > 1 MRC grade in the tested extremity was found in five patients (fulfilling criteria for progressive post‐polio muscle atrophy‐PPMA), and 17 post‐polio patients complained of new weakness (Including five PPMA subjects). In seven healthy volunteers the changes in the median macro‐MUPs amplitudes on serial examination varied from −18.8 to +22.4%. In 13 clinically stable patients the change in macro‐MUPs amplitude over 2 years did not exceed 25% of the initial value, in comparison with nine of 17 patients with new complaints displaying a > 25% change in the macro‐MUPs amplitude, with predominant decrease (6 of 9). All five PPMA patients showed a >25% change in the macro‐MUPs amplitude with predominant decrease (+ 33, −27, −42, −50 and −60%). There was a statistically significant difference in the change of the median macro‐MUPs amplitudes between PPMA group (n − 5) and post‐polio patients without objective decline in muscle strength (n = 25; p < 0.05; the Mann–Whitney U test). These findings support the hypothesis of the distal degeneration of abnormally enlarged motor units as a cause of PPMA and show the usefulness of serial measurement in the assessment of PPMA.