Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome.

OBJECTIVE: CHARGE syndrome is a congenital malformation syndrome caused by heterozygous mutations in the CHD7 gene. Severe combined immunodeficiency (SCID) arises from congenital athymia called CHARGE/complete DiGeorge syndrome. While cultured thymus tissue implantation (CTTI) provides an immunological cure, hematopoietic cell transplantation (HCT) is an alternative option for immuno-reconstitution of affected infants. We aimed to clarify the clinical outcomes of patients with athymic CHARGE syndrome after HCT. METHODS: We studied the immunological reconstitution and outcomes of four patients who received non-conditioned unrelated donor cord blood transplantation (CBT) at Kyushu University Hospital from 2007 to 2022. The posttransplant outcomes were compared with the outcomes of eight reported patients. RESULTS: Four index cases received CBT 70-144 days after birth and had no higher than grade II acute graft-versus-host disease. One infant was the first newborn-screened athymic case in Japan. They achieved more than 500/µL naïve T cells with balanced repertoire 1 month post transplant, and survived more than 12 months with home care. Twelve patients including the index cases received HCT at a median 106 days after birth (range: 70-195 days). One-year overall survival rate was significantly higher in patients who underwent non-conditioned HCT than in those who received conditioned HCT (100% vs. 37.5%, p = .02). Nine patients died, and the major cause of death was cardiopulmonary failure. CONCLUSIONS: Athymic infants achieved a prompt reconstitution of non-skewing naïve T cells after non-conditioned CBT that led to home care in infancy without significant infections. Non-conditioned CBT is a useful bridging therapy for newborn-screened cases toward an immunological cure by CTTI.

Assessment of language lateralization in epilepsy patients using the super-selective Wada test.

BACKGROUND: The classical Wada test (cWada), performed by injecting a short-acting anesthetic through the intracarotid route, helps determine language dominance. In the cWada, adverse effects are observed in 10-30% of trials, hindering accurate assessments. In this study, we assessed the effectiveness of the super-selective Wada test (ssWada), a more selective approach for anesthetic infusion into the middle cerebral artery (MCA). METHODS: We retrospectively examined the data of 17 patients with epilepsy who underwent ssWada via anesthetic injection into one M1 segment of the MCA and at least one contralateral trial. RESULTS: The ssWada identified 12 patients with left language dominance, 3 with right language dominance, and 2 with bilateral language distribution. Nine trials on the language dominant side resulted in global aphasia for patients with left- or right language dominance. Of the 13 trials conducted on the non-dominant language side, 12 revealed intact language function and one resulted in confusion. Among these, the outcomes of global aphasia or no language impairment were confirmed in the contralateral trials. Among the 22 trials of unilateral M1 injections in patients with unilateral language dominance, 21 (95.5%) showed either global aphasia or no language impairment, indicating language dominance. CONCLUSIONS: The ssWada yields clear results, with a high rate of over 90% in determining the language dominant hemisphere with few side effects.

A Case of Corticobasal Syndrome and Posterior Cortical Atrophy With Biomarkers of Alzheimer Disease.

Corticobasal syndrome is a clinical entity characterized by asymmetric akinetic rigidity and a variety of higher cortical dysfunction. Predicting background pathology of corticobasal syndrome is rather challenging; however, clinical and neuroimaging findings may provide a clue to its etiopathological origin. Visuospatial dysfunction of posterior cortical atrophy and logopenic-type language impairment indicate the presence of Alzheimer's disease-related pathology, and they provide useful information in distinguishing Alzheimer's disease from other types of corticobasal syndrome. Here we describe a case of corticobasal syndrome who showed characteristic visuospatial symptoms with imaging evidence of Alzheimer's disease supported by amyloid-PET and tau/astrogliosis-PET. Early, accurate diagnosis based on clinical features and predictable biomarkers is mandatory to the success of early intervention in corticobasal syndrome associated with Alzheimer's disease.

Fluctuations in Upper and Lower Body Movement during Walking in Normal Pressure Hydrocephalus and Parkinson's Disease Assessed by Motion Capture with a Smartphone Application, TDPT-GT.

We aimed to capture the fluctuations in the dynamics of body positions and find the characteristics of them in patients with idiopathic normal pressure hydrocephalus (iNPH) and Parkinson's disease (PD). With the motion-capture application (TDPT-GT) generating 30 Hz coordinates at 27 points on the body, walking in a circle 1 m in diameter was recorded for 23 of iNPH, 23 of PD, and 92 controls. For 128 frames of calculated distances from the navel to the other points, after the Fourier transforms, the slopes (the representatives of fractality) were obtained from the graph plotting the power spectral density against the frequency in log-log coordinates. Differences in the average slopes were tested by one-way ANOVA and multiple comparisons between every two groups. A decrease in the absolute slope value indicates a departure from the 1/f noise characteristic observed in healthy variations. Significant differences in the patient groups and controls were found in all body positions, where patients always showed smaller absolute values. Our system could measure the whole body's movement and temporal variations during walking. The impaired fluctuations of body movement in the upper and lower body may contribute to gait and balance disorders in patients.

Rhinitis in Japanese students - associations with window pane condensation, recent indoor painting, wooden home and dog allergen at school.

We studied risk factors for rhinitis in Japanese homes and schools. A questionnaire was sent to students in four schools (12-15 y age), 1048 (99.2%) participated. Crowdedness and furry pet allergens were measured in their classrooms. Household environment data was collected by a questionnaire. Risk factors were identified by multi-level logistic regression with mutual adjustment. The prevalence of current rhinitis was 60.3%, current rhinoconjunctivitis 24.4% and weekly rhinitis 29.5%. Window condensation (AORs1.69-1.90) and indoor painting (AORs1.72-1.76) at home were associated with rhinitis. The association between painting and rhinitis was stronger in girls (interaction p = 0.002) and in wooden homes (interaction p = 0.05). Dog allergen (Can f 1) in classroom air was associated with rhinitis (p = 0.04). In conclusion, window pane condensation and indoor painting can be household risk factors for rhinitis and dog allergen may be a risk factor in Japanese schools. Girls can be more sensitive to emissions from indoor paint than boys.

Initial symptoms of early-onset dementia in Japan: nationwide survey.

AIM: The aim of this study was to investigate initial symptoms of early-onset dementia (EOD) for each dementia subtype. METHOD: We conducted a nationwide, population-based EOD prevalence study in Japan. Data were collected through service providers for people with EOD. Initial symptoms were assessed in six domains: loss of memory, difficulty in word generation, irritability, loss of motivation, increased mistakes in the workplace or domestically, and unusual behaviours or attitudes other than those listed. RESULTS: Participants were 770 people with EOD. Characteristic initial symptoms were observed for each EOD subtype. Loss of memory was more common in early-onset Alzheimer's disease (75.7%, P < 0.001), difficulty in word generation was more common in early-onset vascular dementia (41.3%, P < 0.001), and loss of motivation, increased mistakes in the workplace or domestically, and unusual behaviours or attitudes other than those listed were more common in early-onset frontotemporal dementia (34.9%, P < 0.001; 49.4%, P < 0.001; 34.9%, P < 0.001, respectively). In addition, we observed gender differences whereby loss of memory was more common among women and irritability was more common among men. More than half of the participants were employed at symptom onset, and 57.2% of those who were employed at the onset had initial symptoms of increased mistakes in the workplace or domestically. CONCLUSION: This report reveals differences in the frequency of initial symptoms by EOD subtype. The results contribute to increasing public awareness of the initial symptoms of EOD, which will facilitate early diagnosis and social support.

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal-recessive lipid storage disorder caused by mutations in the CYP27A1 gene encoding the key enzyme in the bile acid synthesis, sterol 27-hydroxylase. Here, we report two Japanese CTX siblings with a novel compound heterozygous CYP27A1 mutation, showing different clinical phenotypes and responses to chenodeoxycholic acid (CDCA) therapy. CASE PRESENTATION: The proband, a 32-year-old man, who had chronic diarrhea, bilateral cataracts, and xanthomas, demonstrated progressive neurological manifestations including ataxia, and spastic paraplegia during a 5-year follow-up period despite normalization of serum cholestanol after initiation of CDCA treatment. He also exhibited cognitive decline although improvement had been observed at the beginning of treatment. Follow-up brain magnetic resonance imaging (MRI) revealed pronounced progressive atrophy in the cerebellum, in addition to expanding hyperintense lesions in the dentate nuclei, posterior limb of the internal capsule, cerebral peduncles, and inferior olives on T2-weighted images. In contrast, the two-year-younger sister of the proband presented with chronic diarrhea, cataracts, xanthomas, and intellectual disability but no other neurological symptoms at the time of diagnosis. CDCA treatment lead to improvement of cognitive function and there were no characteristic CTX-related MRI features during the follow-up period. The siblings shared a paternally inherited c.1420C > T mutation (p.Arg474Trp) and a maternally inherited novel c.1176_1177delGA mutation, predicting p.(Glu392Asp*20). CONCLUSIONS: Our cases suggest that early diagnosis and subsequent initiation of CDCA treatment are crucial before the appearance of characteristic MRI findings and severe neurological manifestations related to CTX. Further studies are required to elucidate mechanisms responsible for the clinical diversity of CTX and prognostic factors for long-term outcomes following initiation of CDCA treatment.

Accidental oral bleeding in a dementia patient taking anticoagulants: A case report.

INTRODUCTION: Identifying the causes of accidental oral bleeding can be difficult in patients with dementia. The aim of this study was to highlight the effectiveness of multidisciplinary consultation, which proved extremely useful in investigating the cause of bleeding in this case. CASE PRESENTATION: An 86-year-old woman on anticoagulants who had been admitted to a geriatric facility experienced repeated oral bleeding of unknown cause, initially attributed to periodontitis. CONCLUSION: Along with anticoagulant use, a multidisciplinary consultation attributed the bleeding to the use of a spoon at mealtimes and possible scratching at the wound by the patient with her fingers.

Echolalia in patients with primary progressive aphasia.

OBJECTIVE: This study aimed to examine echolalia and its related symptoms and brain lesions in primary progressive aphasia (PPA). METHODS: Forty-five patients with PPA were included: 19 nonfluent/agrammatic variant PPA (nfvPPA), 5 semantic variant PPA, 7 logopenic variant PPA, and 14 unclassified PPA patients. We detected echolalia in unstructured conversations. An evaluation of language function and the presence of parkinsonism, grasp reflex, imitation behaviour, and disinhibition were assessed. We also measured regional cerebral blood flow (rCBF) using single-photon emission computed tomography. RESULTS: Echolalia was observed in 12 nfvPPA and 2 unclassified PPA patients. All patients showed mitigated echolalia. We compared nfvPPA patients with echolalia (echolalia group) to those without echolalia (non-echolalia group). The median age of the echolalia group was significantly lower than that of the non-echolalia group, and the echolalia group showed a significantly worse auditory comprehension performance than the non-echolalia group. In contrast, the performance of repetition tasks was not different between the two groups. The prevalence of imitation behaviour in the echolalia group was significantly higher than that in the non-echolalia group. The rCBFs in the bilateral pre-supplementary motor area and bilateral middle cingulate cortex in the echolalia group were significantly lower than those in the non-echolalia group. CONCLUSIONS: These findings suggest that echolalia is characteristic of nfvPPA patients with impaired comprehension. Reduced inhibition of the medial frontal cortex with release activity of the anterior perisylvian area account for the emergence of echolalia.

Reduced default mode network connectivity relative to white matter integrity is associated with poor cognitive outcomes in patients with idiopathic normal pressure hydrocephalus.

BACKGROUND: The aim of this study was to investigate whether default mode network (DMN) connectivity and brain white matter integrity at baseline were associated with severe cognitive impairments at baseline and poor cognitive outcomes after shunt placement in patients with idiopathic normal pressure hydrocephalus (iNPH). METHODS: Twenty consecutive patients with iNPH whose symptoms were followed for 6 months after shunt placement and 10 healthy controls (HCs) were enrolled. DMN connectivity and brain white matter integrity at baseline in the patients with iNPH and HCs were detected by using resting-state functional magnetic resonance imaging (MRI) with independent component analysis and diffusion tensor imaging, respectively, and these MRI indexes were compared between the patients with iNPH and HCs. Performance on neuropsychological tests for memory and executive function and on the gait test was assessed in the patients with iNPH at baseline and 6 months after shunt placement. We divided the patients with iNPH into the relatively preserved and reduced DMN connectivity groups using the MRI indexes for DMN connectivity and brain white matter integrity, and the clinical measures were compared between the relatively preserved and reduced DMN connectivity groups. RESULTS: Mean DMN connectivity in the iNPH group was significantly lower than that in the HC group and was significantly positively correlated with Rey auditory verbal learning test (RAVLT) immediate recall scores and frontal assessment battery (FAB) scores. Mean fractional anisotropy of the whole-brain white matter skeleton in the iNPH group was significantly lower than that in the HC group. The reduced DMN connectivity group showed significantly worse performance on the RAVLT at baseline and significantly worse improvement in the RAVLT immediate recall and recognition scores and the FAB scores than the preserved DMN connectivity group. Moreover, the RAVLT recognition score highly discriminated patients with relatively preserved DMN connectivity from those with relatively reduced DMN connectivity. CONCLUSIONS: Our findings indicated that iNPH patients with reduced DMN connectivity relative to the severity of brain white matter disruption have severe memory deficits at baseline and poorer cognitive outcomes after shunt placement. However, further larger-scale studies are needed to confirm these findings.

Improvement in callosal disconnection syndrome with recovery of callosal connectivity.

Recent advancements in radiological techniques have enabled the observation of the topographic distribution of the human corpus callosum. However, its functional connectivity remains to be elucidated. The symptoms of callosal disconnection syndrome (CDS) can potentially reveal the functional connections between the cerebral hemispheres. Herein, we report a patient with CDS, whose callosal lesion was restricted to the posterior midbody, isthmus, and an anterior part of the dorsal splenium. A 53-year-old right-handed woman demonstrated CDS following cerebral infarction associated with subarachnoid hemorrhage. She exhibited CDS including ideomotor apraxia, and tactile anomia with the left hand, cross-replication of hand postures, cross-localization of the fingers, and constructional impairment with the right hand. Six months after onset, the left-handed ideomotor apraxia on imitation improved, but that to command did not, which indicated the difference in the nature of the transcallosal connections between ideomotor apraxia on imitation and ideomotor apraxia to command. Longitudinal CDS observation and corpus callosum tractography will prove useful in expanding our understanding of the nature of the organization of interhemispheric information transference.

Diverticulum in buccal mucosa: A rare sac-like oral pouch.

OBJECTIVE: This article describes a rare case of oral diverticulum. BACKGROUND: Diverticulum represents a sac-like protrusion of the gastrointestinal tract, commonly arising in the colon wall of elder individuals. Zenker's diverticulum can also occur in the pharyngeal mucosa. However, oral diverticulum appears rare. MATERIAL AND METHOD: The patient was an 88-year-old man with dementia living in a geriatric facility. A dental hygienist incidentally identified a small pouch containing stagnant food residue in the left buccal mucosa during oral hygiene procedures. RESULTS: The small pouch with stagnant food residue was identified as a diverticulum. CONCLUSION: Diverticula may be identified from the stagnation of food residue. Dental specialists who practice oral hygiene should be aware of diverticula as a differential diagnosis.

Clinical and Cerebral Metabolic Changes in Parkinson's Disease With Basal Forebrain Atrophy.

BACKGROUND: Cholinergic dysfunction plays a key role in cognitive dysfunction in Parkinson's disease (PD). Recent studies revealed that atrophy in the nucleus basalis of Meynert (NBM), the largest cholinergic nucleus in the basal forebrain, heralds cognitive decline in PD. Despite clinical importance of NBM atrophy in PD, clinical and radiological correlates of NBM atrophy remains to be elucidated. OBJECTIVE: We investigated the longitudinal changes in clinical and cerebral glucose metabolic characteristics in PD with atrophy in the NBM. METHODS: We analyzed the 3-year longitudinal data of 56 PD patients who underwent motor, nonmotor, and imaging evaluations at baseline. The patients were classified into PD with and without NBM atrophy based on the results of magnetic resonance imaging volumetry. We compared clinical characteristics and cerebral glucose metabolic changes between PD with and without NBM atrophy. RESULTS: At baseline, 20 patients and 36 patients were classified into PD with and without NBM atrophy groups, respectively. At follow-up, the data of the 14 PD patients in the NBM atrophy group and the 18 patients in the group without NBM atrophy completed full assessments and were available for the analysis. The PD with NBM atrophy group showed severe cognitive dysfunction and psychiatric symptoms both at baseline and follow-up. The NBM volume significantly correlated with motor and nonmotor functions. The PD with NBM atrophy showed significantly reduced metabolism in the parietal and occipital cortices both at baseline and follow-up. CONCLUSIONS: Basal forebrain atrophy is a simple and sensible marker of faster disease progression and cortical hypometabolism in PD. © 2020 International Parkinson and Movement Disorder Society.

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.

BACKGROUND: Activated phosphatidylinositol-3-OH kinase δ syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory tract infections, lymphoid hyperplasia, and Herpesviridae infections caused by germline gain-of-function mutations of PIK3CD. Hematopoietic stem cell transplantation (HSCT) can be considered to ameliorate progressive immunodeficiency and associated malignancy, but appropriate indications, methods, and outcomes of HSCT for APDS1 remain undefined. OBJECTIVE: Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explore appropriate indications and methods of HSCT. METHODS: We reviewed retrospectively the medical records of cohorts undergoing HSCT at collaborating facilities. RESULTS: Thirty-year overall survival was 86.1%, but event-free survival was 39.6%. Life-threatening events, such as severe infections or lymphoproliferation, were frequent in childhood and adolescence and were common indications for HSCT. Nine patients underwent HSCT with fludarabine-based reduced-intensity conditioning. Seven patients survived after frequent adverse complications and engraftment failure. Most symptoms improved after HSCT. CONCLUSION: Patients with APDS1 showed variable clinical manifestations. Life-threatening progressive combined immunodeficiency and massive lymphoproliferation were common indications for HSCT. Fludarabine-based reduced-intensity conditioning-HSCT ameliorated clinical symptoms, but transplantation-related complications were frequent, including graft failure.

Prevalence and subtype distribution of early-onset dementia in Japan.

AIM: People living with early-onset dementia (EOD) have specific social needs. Epidemiological studies are needed to obtain current information and provide appropriate service planning. This study aimed to clarify the current prevalence and subtype distribution of EOD, as well as the services frequently used by individuals with EOD. METHODS: A multisite, population-based, two-step study was conducted. Questionnaires were sent to 26 416 candidate facilities in 12 areas with a target population of 11 630 322 to inquire whether any individuals with EOD had sought services or stayed during the last 12 months (step 1). When "yes" responses were received, additional questionnaires were sent to the facilities both to complete and to distribute to the target individuals with EOD to obtain more detailed information, including the dementia subtype (step 2). RESULTS: In step 1, valid responses were obtained from 16 848 facilities (63.8%), and 4077 cases were identified. In step 2, detailed information was obtained for 1614 cases (39.6%) from the facilities and 530 cases (13.0%) from the individuals. The national EOD prevalence rate was estimated to be 50.9/100 000 population at risk (95% confidence interval: 43.9-57.9; age range, 18-64 years). The number of individuals with EOD was estimated to be 35 700 as of 2018. Alzheimer-type dementia (52.6%) was the most frequent subtype, followed by vascular dementia (17.1%), frontotemporal dementia (9.4%), dementia due to traumatic brain injury (4.2%), dementia with Lewy bodies/Parkinson's disease dementia (4.1%), and dementia due to alcohol-related disorders (2.8%). Individuals with EOD were most frequently identified at medical centers for dementia. CONCLUSION: The prevalence rate estimated in this study was comparable to those in previous studies in Japan. However, the subtype distribution differed, with Alzheimer-type dementia being the most prominent. Based on the case identification frequencies, medical centers for dementia are expected to continue to function as the primary special health service by providing quality diagnosis and post-diagnostic support for individuals with EOD.

Pure topographical disorientation in novel environments without anterograde amnesia: a case study.

Topographical disorientation (TD) in novel environments is considered to be a part of anterograde amnesia. A 56-year-old woman presented with pure TD only in novel environments following limbic encephalitis. She could not remember directions inside the hospital on weekly outpatient visits; however, her verbal and visual anterograde memories were normal. In the test of learning photographs of scenes, faces, and objects, only her scores for landscapes were worse than those in healthy controls. These findings suggested that her TD specific to landscapes and directions in novel environments was caused by category-specific memory impairment related to bilateral hippocampal and parahippocampal dysfunction.

Current asthma, respiratory symptoms and airway infections among students in relation to the school and home environment in Japan.

OBJECTIVE: To study associations between the school and home environment and current asthma, respiratory symptoms and airway infections among Japanese students. METHODS: Japanese students (12-15 y) (N = 1048) in four schools responded to a questionnaire on respiratory health, allergy and the home environment. Temperature, relative air humidity (RH) and student density (students/m2 floor area) was measured in the classrooms: dust was collected from floors and in classroom air and analysed for cat (Fel d 1) and dog (Can f 1) allergens. Health associations were analysed by multi-level logistic regression. RESULTS: Doctor's diagnosed asthma was common (13.4%), 8.8% reported cat allergy and 6.1% dog allergy. The median level in floor dust was 41 ng/g (IQR 23-92) for Fel d 1 and 101 ng/g (IQR 54-101) for Can f 1. The median level in air was 18.6 ng/ m2/ day (IQR5.9-25.1) for Fel d 1 and 18.6 ng/ m2/ day (IQR 6.0-13.3) for Can f 1. High RH, high student density and airborne cat allergen was associated with airway infections. In the home environment, recent indoor painting, new floor materials, odour, having cats as pets, window pane condensation in winter, and dampness in floor construction were associated with respiratory illness. CONCLUSION: High relative air humidity, high student density and airborne cat allergens at school may increase the risk of airway infections. Having cats as pets, chemical emissions from paint and new floor materials, odour and dampness can constitute domestic risk factors for respiratory symptoms while having dogs as pets could be protective.

Cellular localization of uranium in the renal proximal tubules during acute renal uranium toxicity.

Renal toxicity is a hallmark of uranium exposure, with uranium accumulating specifically in the S3 segment of the proximal tubules causing tubular damage. As the distribution, concentration and dynamics of accumulated uranium at the cellular level is not well understood, here, we report on high-resolution quantitative in situ measurements by high-energy synchrotron radiation X-ray fluorescence analysis in renal sections from a rat model of uranium-induced acute renal toxicity. One day after subcutaneous administration of uranium acetate to male Wistar rats at a dose of 0.5 mg uranium kg(-1) body weight, uranium concentration in the S3 segment of the proximal tubules was 64.9 ± 18.2 µg g(-1) , sevenfold higher than the mean renal uranium concentration (9.7 ± 2.4 µg g(-1) ). Uranium distributed into the epithelium of the S3 segment of the proximal tubules and highly concentrated uranium (50-fold above mean renal concentration) in micro-regions was found near the nuclei. These uranium levels were maintained up to 8 days post-administration, despite more rapid reductions in mean renal concentration. Two weeks after uranium administration, damaged areas were filled with regenerating tubules and morphological signs of tissue recovery, but areas of high uranium concentration (100-fold above mean renal concentration) were still found in the epithelium of regenerating tubules. These data indicate that site-specific accumulation of uranium in micro-regions of the S3 segment of the proximal tubules and retention of uranium in concentrated areas during recovery are characteristics of uranium behavior in the kidney.

Executive Dysfunction in Patients with Putaminal Hemorrhage.

BACKGROUND: The frontal-subcortical circuits link the specific areas of the frontal cortex to the striatum, basal ganglia, and thalamus. Disruption of the frontal-subcortical circuits may lead to cognitive impairment with frontal lobe features. The putamen is a central component of frontal-subcortical circuits. Although putaminal lesions presumably lead to cognitive and behavioral changes, studies on frontal lobe dysfunctions after putaminal stroke are scarce. There are no previous studies that systematically examined frontal lobe functions with a focal putaminal lesion. The objective of this study is to demonstrate whether putaminal hemorrhage causes frontal lobe dysfunction. METHODS: Cognitive functions, including various aspects of frontal lobe functions, were systematically assessed in 15 patients with left- or right-sided putaminal hemorrhage 2 months after the onset and compared with healthy controls. RESULTS: Patients did not have signs of aphasia, apraxia, or spatial neglect. They performed significantly worse on tests of frontal lobe function, including Letter-Number Sequencing (U = 22, P < .001), lexical fluency (U = 30, P < .001), and motor series subtest (U = 45, P = .004) of the Frontal Assessment Battery. On the Wisconsin Card Sorting Test, patients performed significantly worse for "categories achieved" (U = 29.5, P < .001), "perseverative errors" (U = 25, P < .001), and "set loss" (U = 49, P = .008). None showed behavioral impairment. CONCLUSIONS: Isolated putaminal hemorrhage causes modest frontal lobe dysfunction without behavioral symptoms. Our findings indicate that isolated putaminal hemorrhage disrupts the dorsolateral-striato-pallido-thalamic circuits and causes executive dysfunction.

Molecular and virological evidence of viral activation from chromosomally integrated human herpesvirus 6A in a patient with X-linked severe combined immunodeficiency.

It has been unclear whether chromosomally integrated human herpesvirus 6 (ciHHV-6) can be activated with pathogenic effects on the human body. We present molecular and virological evidence of ciHHV-6A activation in a patient with X-linked severe combined immunodeficiency. These findings have significant implications for the management of patients with ciHHV-6.