Unilateral Abnormalities Research Articles

Effect of unilateral tubal abnormalities on the results of intrauterine inseminations

A total of 101 patients with one normal tube were compared with 117 patients with two normal tubes to assess the effect of unilateral tubal abnormalities on the results of intrauterine inseminations. The clinical pregnancy and live birth rates seemed to reduce by one-half in almost all types of abnormality, suggesting that these patients should be preferentially treated with IVF.

TARGETED INCREASE IN PULMONARY BLOOD FLOW IN A BIDIRECTIONAL GLENN CIRCULATION

Background: Additional pulmonary blood flow (PBF) into a Glenn shunt improves oxygenation at the risk of veno-venous collaterals, effusions, and Superior Vena Cava (SVC) hypertension. In select patients with unilateral pulmonary vascular abnormalities, targeted supplemental PBF may improve antegrade

Epilepsy surgery in drug resistant temporal lobe epilepsy associated with neuronal antibodies

We assessed the outcome of patients with drug resistant epilepsy and neuronal antibodies who underwent epilepsy surgery. Retrospective study, information collected with a questionnaire sent to epilepsy surgery centers. Thirteen patients identified, with antibodies to GAD (8), Ma2 (2), Hu (1), LGI1 (1) or CASPR2 (1). Mean age at seizure onset: 23 years. Five patients had an encephalitic phase. Three had testicular tumors and five had autoimmune diseases. All had drug resistant temporal lobe epilepsy (median: 20 seizures/month). MRI showed unilateral temporal lobe abnormalities (mainly hippocampal sclerosis) in 9 patients, bilateral abnormalities in 3, and was normal in 1. Surgical procedures included anteromesial temporal lobectomy (10 patients), selective amygdalohippocampectomy (1), temporal pole resection (1) and radiofrequency ablation of mesial structures (1). Perivascular lymphocytic infiltrates were seen in 7/12 patients. One year outcome available in all patients, at 3 years in 9. At last visit 5/13 patients (38.5%) (with Ma2, Hu, LGI1, and 2 GAD antibodies) were in Engel’s classes I or II. Epilepsy surgery may be an option for patients with drug resistant seizures associated with neuronal antibodies. Outcome seems to be worse than that expected in other etiologies, even in the presence of unilateral HS. Intracranial EEG may be required in some patients.

Thin-section computed tomography findings in 104 immunocompetent patients with adenovirus pneumonia.

Background To date, there has been no computed tomography (CT) evaluation of adenovirus pneumonia in a large number of immunocompetent patients. Purpose To describe the thin-section CT findings of immunocompetent patients with adenovirus pneumonia. Material and Methods We prospectively enrolled 104 patients with adenovirus pneumonia from a military hospital. CT scans of each patient were retrospectively and independently assessed by two radiologists for the presence of abnormalities, laterality and zonal predominance of the parenchymal abnormalities, and dominant imaging patterns and their anatomic distributions. Results CT findings included consolidation (n = 92), ground-glass opacity (GGO; n = 82), septal thickening (n = 34), nodules (n = 46), bronchial wall thickening (n = 32), pleural effusion (n = 16), and lymphadenopathy (n = 3). Eighty-four patients (81%) exhibited unilateral parenchymal abnormalities and 57 (57%) exhibited lower lung zone abnormalities. The most frequently dominant CT pattern was consolidation with surrounding GGO (n = 50), with subpleural (70%) and peribronchovascular (94%) distributions. Consolidation-the second-most common pattern (n = 33)-also exhibited subpleural (79%) and peribronchovascular (97%) distributions. The dominant nodule pattern (n = 14) exhibited mixed (64%) and peribronchovascular (100%) distributions. A dominant GGO pattern was only observed in four patients; none had central distribution. Conclusion Although the manifestations of adenovirus pneumonia on CT are varied, we found the most frequent pattern was consolidation with or without surrounding GGO, with subpleural and peribronchovascular distributions. Parenchymal abnormalities were predominantly unilateral and located in the lower lung zone. If dominant consolidation findings are present in immunocompetent patients during the early stages, adenovirus pneumonia should be considered.

Patient Compliance with Postoperative Lower-Extremity Non-Weight-Bearing Restrictions.

A period of non-weight-bearing is prescribed following many orthopaedic injuries and procedures. It is believed that a period of non-weight-bearing is important for proper healing and recovery. The degree to which patients are compliant with non-weight-bearing instructions is unknown. The purpose of this study was to measure patient compliance with a period of prescribed non-weight-bearing. In this single-blinded study, pressure-sensitive film was embedded into short leg casts of 51 consecutive adult orthopaedic patients with unilateral lower-extremity abnormality who had been instructed to be strictly non-weight-bearing. Sensors were retrieved at the time of cast removal (mean, 24.3 days [range, 7 to 48 days]) and then were analyzed for force distribution and magnitude. Noncompliance was defined as maximum detectable pressure exerted on ≥50% of the film. Patient characteristics and the time of year that the casts were worn were also examined to determine if they correlated with weight-bearing. Fourteen (27.5%) of 51 patients were noncompliant with the non-weight-bearing restriction. Six (42.9%) of the 14 noncompliant patients compared with 11 (29.7%) of the 37 compliant patients experienced an adverse event (p = 0.51). Sex, age, language spoken, body mass index, time in the cast, and the treating surgeon did not have a significant influence on weight-bearing performance (p > 0.05). Significantly greater weight-bearing was found (p = 0.04) in warmer months (June to October) than in colder months (November to March) in the United States. The noncompliance rate with the postoperative non-weight-bearing restriction was 27.5% (95% confidence interval, 15.2% to 39.8%) in this patient group, despite explicit instructions and education about possible complications associated with weight-bearing. The only factor found to have a significant effect on weight-bearing compliance was the time of year that the cast was worn. No significant difference was found between the complication rate of the compliant patients and that of the noncompliant patients. Prognostic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Sclérodermie linéaire de la face associée à des anomalies neurologiques par microangiopathie

Linear scleroderma is a fibrotic disease affecting the skin and sometimes the deeper tissues. We describe a case of scleroderma associated with neurological anomalies not previously reported in the literature. A 16-year-old male patient presented in 2009 for hemifacial linear scleroderma. Treatment with methotrexate for 14 months resulted in stabilization of the disease. In 2013, we noted worsening of the patient's skin lesions as well as homolateral ptosis. Head MRI revealed unilateral hemispherical signal abnormalities with T2 hypersignal in the basal gangliaand punctate foci of T2* hyposignal corresponding to microbleeds. In 2014 and 2015, the patient presented three brief episodes of right hemicorpus paresthesia (with temporary aphasia followed by headache during the first episode). The head MRI showed worsening of the anomalies, suggesting progressing cerebral microangiopathy. Clinicians may not always be familiar with the neurological abnormalities associated with localized facial scleroderma even if such abnormalities are not uncommon (their exact prevalence is unknown). Clinical signs vary but, in most cases, the radiological features are calcifications and hyperintense foci of white matter lesions in T2. As far as we are aware, there have been no reports to date of microbleeding as observed in our patient. The worsening with time of these neurological anomalies of unknown origin does not appear to be correlated with the dermatological lesions. It is important for dermatologists be aware of these complications of facial linear scleroderma.

High frequency oscillations for lateralizing suspected bitemporal epilepsy

ObjectiveIn some cases of single focus epilepsy, conventional video electroencephalography (EEG) cannot reveal the epileptogenic focus even when intracranial electrodes are used. Here, we tested whether analyzing high frequency oscillations (HFOs) can be used to determine the ictal onset zone in suspected bitemporal epilepsy and improve seizure outcome. MethodsWe prospectively studied 13 patients with refractory temporal seizures who were treated over a 4-year period and underwent bilateral placement of intracranial electrodes. Subdural strips were used in all cases, and depth electrodes were implanted into mesial temporal lobes in 10 patients. The mean patient age was 30.92 years, and 30.7% of patients were male. Patients were monitored by conventional and wide-band frequency amplifiers. ResultsConventional invasive EEG monitoring of interictal periods showed bilateral epileptiform abnormalities in 12 patients (92.3%) and unilateral epileptiform abnormalities in one (7.7%), and monitoring of ictal periods revealed unilateral seizure origins in nine patients (69.2%) and bilateral origins in four (30.8%). In contrast, high frequency invasive EEG monitoring of interictal periods showed bilateral HFOs in seven patients (53.8%) and unilateral HFOs in six (46.2%), and monitoring of ictal periods revealed unilateral HFOs in all 10 patients who were tested. Three patients were not monitored during ictal periods because of time limitations. All 13 patients subsequently underwent a standard unilateral temporal lobectomy and have been followed-up for a minimum of 12 months. Eleven (84%) had a Class I outcome, one (8%) a Class II outcome, and one a Class III outcome. SignificanceBilateral placement of subdural strip and depth electrodes for seizure monitoring in patients with suspected bitemporal epilepsy is both safe and effective. Monitoring high frequency oscillations can help determine the laterality of the onset zone when localization using conventional EEG or brain MRI fails.

Anti-collapsin response mediator protein 5 encephalitis masquerading as a low-grade brain tumour

A 71-year-old woman presented acutely with seizures; her MRI suggested a low-grade glioma of the right temporal lobe. Over the preceding 18 months, she had developed progressive limb chorea and...

Severe adenovirus community-acquired pneumonia in immunocompetent adults: chest radiographic and CT findings.

Severe adenovirus pneumonia and its associated imaging features are well-described in immunocompromised patients but are rare and poorly understood in immunocompetent adults. We sought to describe the radiographic and CT findings of severe adenovirus community-acquired pneumonia (CAP) in eight immunocompetent adults. We reviewed systematically chest imaging manifestations of laboratory-confirmed severe adenovirus pneumonia in eight immunocompetent adults from April 2012 to April 2014. All patients showed abnormal results on initial chest radiograph and CT, with the exception of one normal initial chest radiograph. The abnormalities of the initial chest radiographs were unilateral (n=4) or bilateral (n=3), including consolidation (n=4), dense patchy opacity (n=3), ground glass opacity (GGO) (n=1), and pleural effusion (n=1). The initial CT findings consisted of unilateral (n=5) and bilateral (n=3) abnormalities, including consolidation (n=8), GGO (n=2), pleural effusion (n=3) and small nodules (n=1). Focal consolidation was the predominant finding in six patients whose initial CT scans were examined within one week after illness onset. Follow-up radiologic findings showed rapid development of bilateral consolidation within ten days after illness onset, usually accompanied by adjacent ground-glass opacity and pleural effusion. The parenchymal abnormalities began to absorb around two weeks after illness onset, with no appearances of fibrosis. Severe adenovirus CAP in immunocompetent adults mainly appears as focal consolidation followed by rapid progression to bilateral consolidation, usually accompanied by adjacent GGO and pleural effusion, which may resemble bacterial pneumonia. Adenovirus should be considered in severe pneumonia cases with negative cultures and failure to respond to antibiotics.

Unilateral Fetal Renal Abnormalities: Are They Really Isolated?

Our objective was to describe the association between unilateral fetal renal abnormalities and other major anomalies that were not apparent in the second trimester. A review of the ultrasound database identified fetuses with suspected unilateral renal agenesis, unilateral multicystic dysplastic kidney, and renal ectopia from 2005 to 2014. Neonatal records were reviewed to identify anomalies not suspected in the second trimester, and postnatal imaging studies were reviewed. Categorical data were compared by &x003C7;(2) analysis and the Fisher exact test. We identified 102 cases, including 36 with suspected renal agenesis, 28 with suspected multicystic dysplastic kidney, and 38 with suspected renal ectopia. There were 8 cases (7.8%) with major anomalies not suspected in the second trimester. In 5 cases (4.9%), there were no associated findings in the second trimester. There were no significant differences in the rates of unsuspected abnormalities between the 3 groups. There was a trend toward a higher rate of unsuspected anomalies in the cases with a single umbilical artery compared to those with a 3-vessel cord (28.6% vs 6.3%; P= .09). In fetuses with unilateral renal abnormalities, major anomalies that were not suspected in the second trimester were uncommon. However, patients should be aware of the possibility that other major anomalies could subsequently be identified, and the outcome may depend on more than postnatal renal function.

CT and MR Unilateral Brain Features Secondary to Nonketotic Hyperglycemia Presenting as Hemichorea-Hemiballism.

Hemichorea-hemiballism is an unusual hyperkinetic movement disorder characterized by continuous involuntary movements of an entire limb or both limbs on one side of the body. The acute onset of this disorder occurs with an insult in contralateral basal ganglia. Ischemic events represent the most common cause. Nonketotic hyperglycemia comes in second place. Nonketotic hyperglycemic hemichorea-hemiballism (NHH) is a rare cause of unilateral brain abnormalities on imaging studies confined to basal ganglia (mainly putaminal region as well as caudate nucleus). Subtle hyperdensity in striatal region can be found on CT studies whereas brain MR imaging typically shows T1 hyperintensity and T2 hypointensity in the basal ganglia contralateral to the movements. Diagnosis is based on both glucose levels and neuroimaging findings. Elevated blood glucose and hemoglobin A1c levels occur with poorly controlled diabetes. In this case report, our aim is to present neuroimaging CT and MR unilateral findings in an elderly woman secondary to nonketotic hyperglycemia presenting as hemichorea-hemiballism.

Thalamic abnormalities in children with continuous spike-wave during slow-wave sleep: An F-18-fluorodeoxyglucose positron emission tomography perspective.

Thalamic injury has been implicated in the development of continuous spike-wave during slow-wave sleep (CSWS) in children with epilepsy. We studied thalamic abnormalities in children with CSWS using F-18-fluorodeoxyglucose (FDG)-positron emission tomography (PET) imaging. Twenty-three patients (12 male; mean age 9 years) with CSWS and normal thalami on brain magnetic resonance imaging (MRI) underwent FDG-PET. Thalamic glucose metabolism, represented by standardized uptake value normalized to whole brain (nSUV, RT for right thalamus and LT for left thalamus), and its asymmetry--absolute asymmetry index (AAI): ¦(RT-LT)¦*100/[(RT+LT)/2]--was calculated. These values were compared with those from 10 normal healthy controls (five female; mean age 11.1 years). Thalamic glucose metabolism was abnormal in 18 patients (78.3%). Thalamic nSUV was decreased (n = 6) or increased (n = 1) bilaterally in seven children without any asymmetry. Abnormal thalamic symmetry [AAI = 3.7-31.5% (0.8-3.3% in controls)] was seen in 11 children. Of these, six children had a unilateral thalamic metabolic abnormality (increased metabolism, n = 3 and decreased metabolism, n = 3), whereas 5 of 14 children had abnormal asymmetry index with bilaterally normal (n = 4) or increased (n = 1) thalamic metabolism. No clear association of thalamic metabolic abnormalities was seen with the stage of evolution of CSWS (prodromal, acute, or residual) or with the cortical FDG abnormalities. Functional thalamic abnormalities, both unilateral and bilateral, are frequently seen in patients with CSWS. FDG-PET is a sensitive and quantifiable modality to detect these changes.

Normal Gain of VOR with Refixation Saccades in Patients with Unilateral Vestibulopathy.

To characterize the response in the video head-impulse test for the assessment of the vestibulo-ocular reflex (VOR) in patients because of vertigo and dizziness. After rightward and leftward head impulses, the following results evaluated were: gain of the reflex and appearance of refixation saccades. A particular type of response (normal gain VOR and refixation saccades) was evaluated in a group of patients. In patients with a unilateral abnormality consisting of normal gain and refixation saccades, there was a close concordance with the diseased side and the side to which head impulses elicited the abnormal result. In the assessment of patients with dizziness, finding a normal gain VOR with refixation saccades indicates the existence of a peripheral vestibulopathy and localizes to the side of the lesion.

MRI characterization of temporal lobe epilepsy using rapidly measurable spatial indices with hemisphere asymmetries and gender features

The paucity of morphometric markers for hemispheric asymmetries and gender variations in hippocampi and amygdalae in temporal lobe epilepsy (TLE) calls for better characterization of TLE by finding more useful prognostic MRI parameter(s). T1-weighted MRI (3 T) morphometry using multiple parameters of hippocampus-parahippocampus (angular and linear measures, volumetry) and amygdalae (volumetry) including their hemispheric asymmetry indices (AI) were evaluated in both genders. The cutoff values of parameters were statistically estimated from measurements of healthy subjects to characterize TLE (57 patients, 55% male) alterations. TLE had differential categories with hippocampal atrophy, parahippocampal angle (PHA) acuteness, and several other parametric changes. Bilateral TLE categories were much more prevalent compared to unilateral TLE categories. Female patients were considerably more disposed to bilateral TLE categories than male patients. Male patients displayed diverse categories of unilateral abnormalities. Few patients (both genders) had combined bilateral appearances of hippocampal atrophy, amygdala atrophy, PHA acuteness, and increase in hippocampal angle (HA) where medial distance ratio (MDR) varied among genders. TLE had gender-specific and hemispheric dominant alterations in AI of parameters. Maximum magnitude of parametric changes in TLE includes (a) AI increase in HA of both genders, (b) HA increase (bilateral) in female patients, and (c) increase in ratio of amygdale/hippocampal volume (unilateral, right hemispheric), and AI decrease in MDR, in male patients. Multiparametric MRI studies of hippocampus and amygdalae, including their hemispheric asymmetry, underscore better characterization of TLE. Rapidly measurable single-slice parameters (HA, PHA, MDR) can readily delineate TLE in a time-constrained clinical setting, which contrasts with customary three-dimensional hippocampal volumetry that requires many slice computation.

Simplified screening criteria for HNF1B analysis

To the Editor: Indications for HNF1B analysis in subjects with congenital anomalies of kidneys and urinary tract (CAKUT) remain controversial and a frequently discussed subject. The large phenotypic variability and the high rate of de novo mutations partly explain this discussion. Recently, Faguer et al.1Faguer S. Chassaing N. Bandin F. et al.The HNF1B score is a simple tool to select patients for HNF1B gene analysis.Kidney Int. 2014; 86: 1007-1015Abstract Full Text Full Text PDF PubMed Scopus (72) Google Scholar have addressed this challenging issue by developing an exhaustive scoring system. This 17-item score contains clinical, biochemical, familial, and pathological findings in affected subjects. Although the authors claim that their score performed with a sensitivity of 98.2% and a NPV of 99%, we have some connotations to address. We recently applied the score of Faguer et al.1Faguer S. Chassaing N. Bandin F. et al.The HNF1B score is a simple tool to select patients for HNF1B gene analysis.Kidney Int. 2014; 86: 1007-1015Abstract Full Text Full Text PDF PubMed Scopus (72) Google Scholar in a cohort of children and adults identified with HNF1B mutations in a prospective cohort of patients with CAKUT2Raaijmakers A. Corveleyn A. Devriendt K. et al.Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.Nephrol Dial Transplant. 2014; (e-pub ahead of print 13 December 2014)PubMed Google Scholar and found that three patients would have been missed, as especially in children an exhaustive list of symptoms is not always (yet) present. In contrast, applying the simplified screening criteria excluding patients with unilateral abnormalities in the absence of major criteria (fetal hyperechogenic kidneys, multicystic dysplastic kidney, renal agenesis, hypoplastic or dysplastic kidneys, or cysts from unknown origin)2Raaijmakers A. Corveleyn A. Devriendt K. et al.Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.Nephrol Dial Transplant. 2014; (e-pub ahead of print 13 December 2014)PubMed Google Scholar would improve the detection rate from 10 to 19% and a 50% reduction in patients to be screened, in line with the improvement by the score of Faguer et al.1Faguer S. Chassaing N. Bandin F. et al.The HNF1B score is a simple tool to select patients for HNF1B gene analysis.Kidney Int. 2014; 86: 1007-1015Abstract Full Text Full Text PDF PubMed Scopus (72) Google Scholar In our opinion, an easy screening protocol proposed in our study is suitable for daily clinical practice, although we realize that both protocols should be applied to larger databases to substantiate their use and to validate their performance. This study was supported by the “Agency for Innovation, Science and Technology in Flanders (IWT) through the “SAFEPEDRUG” project (IWT/SBO 120033)”

Osseous intramedullary signal alteration and enhancement in Sturge-Weber syndrome: an early diagnostic clue.

Sturge-Weber syndrome (SWS) is a sporadic phakomatosis with variable intracranial involvement. Port-wine stain, choroidal angioma, and leptomeningeal angiomatosis typify the full disease spectrum. Disease manifestations generally evolve toward cerebral hemiatrophy and compensatory hemicalvarial enlargement. However, recognizable imaging correlates may be lacking early on. We have observed SWS-related marrow signal changes to be prevalent in patients of all ages. The purpose of this study is to evaluate bone marrow abnormalities in patients with Sturge-Weber syndrome. The MR imaging database at an academic children's hospital was queried for "Sturge-Weber" to build a cohort for retrospective analysis. Two board-certified neuroradiologists reviewed MR exams for abnormalities of the bone marrow, globes, susceptibility, and perfusion. A two-tailed Fisher's exact test was applied to evaluate the association between variables. Twenty brain MR exams from 19 SWS patients, mean age 4.8 +/- 5.8 years (range 6 months-16 years), met the inclusion criteria. All patients with port-wine stains (18/20) had leptomeningeal enhancement, marrow T2 prolongation, and/or marrow enhancement ipsilaterally. Leptomeningeal enhancement was only present in 53%. Eighty percent had unilateral bone marrow abnormalities. In 37% (all <5 years), marrow abnormalities occurred without leptomeningeal angiomatosis. Thirty-five percent had facial bones involvement; 75% of these had ipsilateral choroidal angiomas. Bone marrow signal abnormality and enhancement is common ipsilateral to the nevus flammeus in SWS. As this may be the sole brain MR abnormality in some patients, it may reflect mild phenotypes or an early disease manifestation, and could help stratify patients for early intervention.

Chronic Central Serous Chorioretinopathy Is Associated with Genetic Variants Implicated in Age-Related Macular Degeneration

In this study, single nucleotide polymorphisms (SNPs) at 19 loci, previously associated with age-related macular degeneration (AMD), were systematically tested for association in patients with chronic central serous chorioretinopathy (cCSC). In addition, we evaluated the effect of detailed phenotyping on these genetic associations. Case-control study. We included 292 cCSC patients, 1147 AMD patients, and 1311 control individuals. We genotyped SNPs at 19 AMD-associated loci and 6 additional SNPs at the complement factor H (CFH) locus. Phenotyping of all patients was based on fundoscopy, spectral-domain optical coherence tomography, fluorescein angiography (FA), and indocyanine green angiography. We measured the allele frequencies of 25 AMD-associated SNPs and CFH haplotype frequencies in patients with cCSC and the effect of phenotypic subdivision of cCSC on genetic associations. One SNP in ARMS2 (rs10490924) was significant after Bonferroni correction (Punadjusted=0.002; odds ratio [OR]=0.64). The SNPs at 3 other AMD loci (CFH, TNFRSF10A, ADAMTS9) showed a trend toward association with typical cCSC. Further analysis of the CFH locus identified 2 SNPs that significantly conferred increased risk for cCSC and 1 that was protective. The CFH-H3 haplotype was also found to be protective (P=0.01; OR=0.54). Using multimodal imaging, 197 patients were classified as having typical cCSC, 52 patients had unilateral abnormalities on FA that were otherwise typical of cCSC, and 43 patients had a clinical picture that could be compatible with cCSC, but with features that could also indicate other macular diseases. Significant differences of the minor allele frequencies of the tested SNPs were observed between these 3 phenotypic subgroups. Chronic CSC is associated with genetic variants in ARMS2 and CFH, indicating a genetic and pathophysiologic overlap between cCSC and AMD. Intriguingly, alleles in ARMS2 and CFH that confer risk of AMD may be protective for cCSC, and alleles in CFH that are protective for AMD confer risk for cCSC. Significant differences in allele frequencies were found among the phenotypic subgroups for several SNPs, illustrating the importance of correct clinical classification.

The Prevalence of Strabismus in Unilateral Coronal Synostosis

Background While there is a clear correlation between unilateral coronal synostosis (UCS) and ocular motility abnormalities, the literature provides little information as to the true epidemiology of strabismus, or the underlying etiology of these paralleled pathologies. The purpose of this study is to investigate the rate of oculomotor abnormalities associated with UCS and its management.

Abnormal causal connectivity by structural deficits in first-episode, drug-naive schizophrenia at rest.

Anatomical deficits and resting-state functional connectivity (FC) alterations in prefrontal-thalamic-cerebellar circuit have been implicated in the neurobiology of schizophrenia. However, the effect of structural deficits in schizophrenia on causal connectivity of this circuit remains unclear. This study was conducted to examine the causal connectivity biased by structural deficits in first-episode, drug-naive schizophrenia patients. Structural and resting-state functional magnetic resonance imaging (fMRI) data were obtained from 49 first-episode, drug-naive schizophrenia patients and 50 healthy controls. Data were analyzed by voxel-based morphometry and Granger causality analysis. The causal connectivity of the integrated prefrontal-thalamic (limbic)-cerebellar (sensorimotor) circuit was partly affected by structural deficits in first-episode, drug-naive schizophrenia as follows: (1) unilateral prefrontal-sensorimotor connectivity abnormalities (increased driving effect from the left medial prefrontal cortex [MPFC] to the sensorimotor regions); (2) bilateral limbic-sensorimotor connectivity abnormalities (increased driving effect from the right anterior cingulate cortex [ACC] to the sensorimotor regions and decreased feedback from the sensorimotor regions to the right ACC); and (3) bilateral increased and decreased causal connectivities among the sensorimotor regions. Some correlations between the gray matter volume of the seeds, along with their causal effects and clinical variables (duration of untreated psychosis and symptom severity), were also observed in the patients. The findings indicated the partial effects of structural deficits in first-episode, drug-naive schizophrenia on the prefrontal-thalamic (limbic)-cerebellar (sensorimotor) circuit. Schizophrenia may reinforce the driving connectivities from the left MPFC or right ACC to the sensorimotor regions and may disrupt bilateral causal connectivities among the sensorimotor regions.

English

Hereditary hemorrhagic telangeiectasia (HHT) is an autosomal dominant genetic disorder that leads to vascular malformations. It was first recognized in the 19th century as a familial disorder with abnormal vascular structures causing bleeding from the nose and gastrointestinal tract. HHT is characterized by telangiectatic lesions of the nose, lips, lungs, brain, and spinal cord. The reported incidence in Europe and Japan is between 1:5000 and 1:8000; but is widely variable in other regions. It is seen more frequently in whites. Ocular involvement has been reported in patients with HHT. Although conjunctival telangiectasia is the most common manifestation, rarely intraocular vascular lesions such as retinal telangiectasia and arteriovenous malformations in the retina, are seen. We describe a patient with HHT who had an abnormal unilateral retinal vascular abnormality along with tortuous conjunctival vasculature in the other eye, which has not been reported till date.