Periventricular Nodular Heterotopia

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47 patients with FLNA associated periventricular nodular heterotopia

47 patients with FLNA associated periventricular nodular heterotopia

Neuronal heterotopia (NH) is one of the most frequent malformations of cortical development observed in pa- tients with epilepsy [1]. It is characterized by an ectopic accumulation of neurons that fail to migrate to the cere- bral cortex [2]. NH is a morphologically and etiologically heterogeneous condition, in particular solitary nodules may be observed as an unspecific finding either isolated or with various complex brain malformations. The most frequent symmetric manifestation of periventricular nodular heterotopia (PVNH) is located along the walls of both lateral ventricles predominantly in females and results from heterozygous loss of function mutations in the X-linked FLNA gene [3, 4]. It is associated with high intrauterine and perinatal lethality in hemizygous males presumably from excessive bleeding, however on rare occasions boys and adult hemizygous male carriers of FLNA mutations have been reported [4, 5]. The gene product Filamin A is a large cytoplasmic actin-binding and cross-linking protein of diverse functions including initiation of cell migration and spreading, coagulation and aspects of vessel wall integrity [6–8]. Cellular func- tion of Filamin A is further modulated by dimerization with the homologous protein Filamin B, which may res- cue defective Filamin A depending upon the cellular en- vironment [6]. Functional imaging indicates that the FLNA associated ectopic cortical neurons are function- ally integrated into motor circuits [9]. The phenotype in females with heterozygous FLNA loss of function muta- tion is very variable. Difficult to treat epileptic seizures are the core clinical finding in about 90 % of the patients and may only start in adulthood [3, 8, 10]. Additional neurological findings are rather discrete and may include deficits in reading, processing speed and executive func- tions, only detectable in subtle neurocognitive testing in about 80 % of patients [11]. Penetrance in heterozygous FLNA mutation carriers is reduced and asymptomatic PVNH may be detected through predictive carrier test- ing or incidentally in cerebral MR imaging as the only manifestation of a FLNA mutation.
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Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI

Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI

Classification of Periventricular Nodular Heterotopia The number, side, and location of the nodules of PNH were re- corded for each patient. By number, they were classified as ⱕ 5 nodules (group 1), 6 –10 nodules (group 2), or ⬎ 10 (group 3). Unilateral PNH (uPNH) versus bilateral PNH (bPNH) was re- corded. PNH location was classified by the ventricular segments affected (Fig 1). Those in the frontal horns and/or bodies of the lateral ventricles were classified as aPNH, while pPNH referred to heterotopia located only in the trigones, temporal horns, or oc- cipital horns of the lateral ventricles. Heterotopia located in all of the ventricular segments was classified as dPNH. If heterotopia were few (group 1) and scattered, they were classified as isolated and not included in further analyses. We did not separate aFLNA-
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Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities

Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities

Cerebellar abnormalities of varying severity were found in 50% of patients and varied from asymmetric cerebellar hemi- sphere hypoplasia, universally associated with a small or absent vermis, to a “microcerebellum” that was small but normally formed. A bulky vermis was seen in 5 patients, likely due to nod- ular heterotopia causing expansion. One patient had a small tectal plate lesion that mimicked gray matter on all sequences and did not enhance, suggesting a periventricular nodule rather than an indolent midbrain tumor. 38 Previously reported pituitary gland

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A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia

A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia

form, bilateral periventricular nodular heterotopia (BPNH), with features similar to the described features of PH. ARFGEF2 is located on 20q13.1 and has 39 exons producing two transcripts that encode BIG2 (brefeldin-A inhibited GEF2 protein), which is involved in vesicular trafficking [7]. ARFGEF2 has highly conserved domains; mutations in these domains might have different phenotypic consequences [8]. In addition to microcephaly and other cognitive disorders, ARFGEF2 is also associated with a phenotype known as “choreadystonic extrapyramidal movement disorder.” It has been suggested that ARFGEF2 dysfunction leads to neurotransmitter receptor mislocalization, which causes degeneration in the putamen and basal ganglia. This, in turn, leads to the abnormal movement observed in PH [9]. Besides mutations in ARFGEF2, earlier studies have also indicated that mutations in the filamin A gene (FLNA) are a frequent genetic cause of PH [10].
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Developmental learning impairments in a rodent model of nodular heterotopia

Developmental learning impairments in a rodent model of nodular heterotopia

At P100, subjects were weighed, anesthetized with ket- amine/xylazine (100/15 mg/kg), and transcardially perfused with saline followed by 10% phosphate buffered formalin. Brains were extracted, placed in formalin, and shipped to GDR at Beth Israel Deaconess Medical Center for anatomical analysis. Brains were embedded in celloidin, and serially sectioned in the coronal plane at 30 μm. A series of every tenth section was stained with cresyl violet for Nissl substance. A screener identified the distribution and relative severity of the malformations without knowl- edge of treatment group or litter of origin. The most common anatomical anomalies consisted of disrupted cortical lamination, periventricular nodular heterotopia (PNH), and hippocampal dysplasia. PNH were ranked by severity (mild (n=8), moderate (n=16), and severe (n =12)), and this categorization was used for post hoc analyses of acoustic testing results. Hippocampal dysplasia was also ranked by severity (mild n =6, moderate n =11, severe n=19). However, hippocampal malformations were identi- fied in all MAM treated subjects, and were typically more severe (with less variability) as compared to the overall PNH profile. In addition, volumes of the cerebral cortex, hippocampus, and corpus callosum were assessed using a Fisher Micromaster II digital microscope. Structural vol- umes were measured by overlaying serial images with a grid (ImageJ), and were computed using Cavalieri’s estimator of volume [43, 44].
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Diagnostic accuracy of nodular gastritis for H. pylori infection

Diagnostic accuracy of nodular gastritis for H. pylori infection

Background: The term nodular is not included in the Sydney classification and there is no widely accepted histopathological definition. It has been proposed that the presence of antral nodularity could predict Helicobacter pylori (H. pylori) infection. The aim of this study was to determine the diagnostic accuracy of nodular gastritis (NG) for H. pylori infection after a rigorous standardization process, and to describe the associated histopathological characteristics. Materials and methods: Endoscopic images of patients submitted to endoscopy with biopsy sampling were included. Endoscopic images were distributed among six endoscopists. The analysis was performed sequentially in three rounds: the first round assessed the interob- server variability, the second evaluated the intraobserver variability, and the third calculated the interobserver variability after training. A correlation analysis between endoscopic and histopathological findings was performed.
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Variable Ki67 proliferative index in 65 cases of nodular fasciitis, compared with fibrosarcoma and fibromatosis

Variable Ki67 proliferative index in 65 cases of nodular fasciitis, compared with fibrosarcoma and fibromatosis

Despite this entity has been well described, NF is still often misdiagnosed as a sarcoma or other malignancies because of its rapid growth, rich cellularity, and mitotic activity. So, in addition to histological appearances, some diagnostic markers including proliferative markers should be used for differential diagnosis. Ki67 antigen is a marker of proliferating cells, and is rapidly degraded after mitosis. For the short half-time, it has been sug- gested that Ki67 staining is more accurate and specific than the counting of mitoses or PCNA staining [16]. Oshiro Y et al. ever reported that NF has higher expres- sion of proliferating cell nuclear antigen than other be- nign and malignant fibroblastic lesions [17]. However, the utility of the proliferative markers has not been established for distinguishing between these lesions for diagnostic purpose [18]. So far, in addition to Ki67 ex- pression in 3 cases of NF described by Ooe M [13], there is no deep study on the expression of Ki67 in NF. So, to further detect the diagnostic usefulness of Ki67, we examined the expression of Ki67 in 65 cases of NF, 15 cases of desmoid fibromatosis and 20 cases of fibrosar- coma. The imunohistochemical staining results showed although Ki67 labeling index was variable in NF, there was generally a higher expression level (mean index 23.71±15.01%). Ki67 has been proved to be a useful marker for distinguishing many benign and malignant lesions [6,7]. Gong et al. [19] found a significantly higher expression of Ki67 in ghost cell odontogenic carcinoma than in calcifying cystic odontogenic tumor. But, our re- sults revealed that NF could show the higher expression of Ki67. The mean Ki67 index in 15 cases of desmoid fibrosatois is significantly lower than that in nodular fasiitis, however, the mean Ki67 index in 20 cases of fibrosarcoma is not significantly higher than that in NF. This result indicates that usefulness of Ki67 staining in differential diagnosis of NF is limited, and may represent a diagnostic pitfall. And we should not misdiagnose the Table 3 The expression of Ki67 in 65 cases of nodular
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‘Other’ Spaces in Ancient Civilization – Christian Asceticism as Heterotopia

‘Other’ Spaces in Ancient Civilization – Christian Asceticism as Heterotopia

The heterotopia of the desert not only spurred the imagination of the late-antiquity Christians (and precisely the educated urban residents as well), but also inspired numer- ous people to make this utopia a reality, whether in a monastic community ( cenobium ) or as hermits. The ideal counter-site found its physical form in the early monasteries and was an incessant thorn in the side of secular society, as it were. Although a number of ascetics lived as hermits, many joined together in monastic communities. Their practical mech- anisms made these cenobia an unmistakable counter-site to all remaining sites from very early on. Even if they were not far from the villages in places like Palestinian Gaza, they were clearly distinct from the settlements, as separately structured complexes sometimes shielded from the outside world by walls. 73 Access to them was limited and linked with rituals. If a young man decided to follow the call of monastic asceticism, he was expected to abandon his worldly possessions, sever his family and social ties, and radically change his lifestyle. 74 The monks’ garments were a visible expression of the entry into another
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Characteristic Appearances of Nodular Fasciitis on
High-Resolution Ultrasonography: With Vasculature
Status from A Lesion-Located Perspective

Characteristic Appearances of Nodular Fasciitis on High-Resolution Ultrasonography: With Vasculature Status from A Lesion-Located Perspective

As nodular fasciitis (NF) is benign and self-limited, the clinical, ultrasonographic and pathological appearances have been described as mimicking sarcoma. NF has been cytogenetically considered as a novel model of transient neoplasia induced by MYH9-USP6 (myosin heary chain 9-ubiquitin -specific peptidase 6) gene fusion. It has been reported that the strong overexpression of USP6 under MYH9 promoter appears to drive tumorigenesis. The similar cytogenetic nature has been also demonstrated in both subcutaneous NF and intradermal type. The author previously described that the presentations of clinical, ultrasonographic and pathological features of NF are attributed to the cytogenetic nature, having the high proliferative growth and involutional nature. The author has also reported the characteristic power Doppler Ultrasonography (US) imaging of NF from a dermatological perspective and suggested that blood low signal is more detectable in intradermal NF than that in subcutaneous type. In this article, the current knowledge of the characteristic vasculature status in NF was reviewed from a lesion located perspective. The author will suggest that intradermal NF and subcutaneous NF, especially in a superficial location, close to or in contact with the dermis may show blood flow signal on color and power Doppler US.
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Morphologic Characteristics of Subcortical Heterotopia: MR Imaging Study

Morphologic Characteristics of Subcortical Heterotopia: MR Imaging Study

The 24 patients ranged in age from 3 days to 39 years, with a mean age of 17 years and a median age of 15 years. There were 13 female and 11 male patients. All available clinical histories and records of physical examinations were obtained. The MR studies had been performed using different imagers of different field strengths ranging from 0.3 to 1.5 T. As a result, the imaging parameters varied widely. All patients un- derwent at least one T1-weighted sequence and one T2-weight- ed sequence, and all underwent imaging in at least two planes. The images were carefully evaluated to analyze the morpho- logic appearance of the heterotopia (nodular versus curviline- ar), the presence or absence of contiguity with the cortex, the presence of blood vessels within the heterotopia, and the pres- ence of CSF within the heterotopia. The latter two features indicated contiguity with the subarachnoid space. All associ- ated malformations, such as callosal agenesis, cerebellar mal- formations, variations in hemispheric size, dysplasia of the ba- sal ganglia (defined as abnormalities in the shape or relative locations of the caudate nuclei, globi palladi, or putamina), and abnormal sulcation of the overlying cerebral cortex, were also noted.
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Pontine Hypoplasia in Children with Periventricular Leukomalacia

Pontine Hypoplasia in Children with Periventricular Leukomalacia

We examined 80 patients with PVL (43 boys and 37 girls) diagnosed on the basis of MR imaging undertaken at a corrected age range of 0 –5 years retrospectively. The diagnosis of PVL was performed by 2 radi- ologists (S.Y. and K.H.), who had enough experience of pediatric neuroradiology on the basis of MR imaging findings, including T2 prolongation in the periventricular white matter, diminishment of myelinated white matter volume, ventricular dilation with irregular margin, and thinning of corpus callosum. The corrected age distribu- Received August 2, 2007; accepted after revision September 27.
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Neonatal periventricular leukomalacia: current perspectives

Neonatal periventricular leukomalacia: current perspectives

PVL consists of initial periventricular focal coagulation necrosis at 3–6 hours after the initial insult, followed by microglial activation at 6–8 hours and several days later karyorrhexis and astrocytic degeneration with macrophage infiltration. Subsequent formation of microcavities occurs between 8 and 12 days, and microcavities are formed by 2 weeks. These cavities are not in communication with the lateral ventricles. 1,11 Topographically, the lesions are uniform,

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The significance of periventricular leukomalacia on ophthalmic outcome

The significance of periventricular leukomalacia on ophthalmic outcome

Periventricular leukomalacia is known to give rise to a range of ophthalmic deficits. The incidence of strabis- mus in these children is shown to be considerably higher than in both non-PVL LBW babies and the general populace. CVI is also a common finding, with higher grades of PVL giving rise to larger reductions in visual acuity. CVI may also occur in the presence of normal visual acuity, taking the form of visuoperceptual deficits.

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Neurodevelopmental Outcome in Survivors of Periventricular Hemorrhagic Infarction

Neurodevelopmental Outcome in Survivors of Periventricular Hemorrhagic Infarction

METHODS. We retrospectively evaluated all cranial ultrasounds of 30 premature infants with periventricular hemorrhagic infarction and assigned a cranial ultra- sound– based periventricular hemorrhagic infarction severity score (range: 0 –3) on the basis of whether periventricular hemorrhagic infarction (1) involved ⱖ 2 territories, (2) was bilateral, or (3) caused midline shift. We then performed neuromotor, visual function, and developmental evaluations (Mullen Scales of Early Learning, Vineland Adaptive Behavior Scale). Developmental scores below 2 SD from the mean were defined as abnormal.
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Cystic periventricular leukomalacia: sonographic and CT findings

Cystic periventricular leukomalacia: sonographic and CT findings

In each of the 21 cases the earliest sonographic abnormally consisted of a broad band of bilateral , strong, peri ventricular echoes merging imperceptibly with surrounding white matter..[r]

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Case Report Nodular regenerative hyperplasia of the liver combined with human immune-deficiency virus infection: a case report

Case Report Nodular regenerative hyperplasia of the liver combined with human immune-deficiency virus infection: a case report

manifestations of portal hypertension, spleno- megaly, were presented in this patient, which was followed by other signs of portal hyperten- sion such as mild ascites and esophageal vari- ces. Furthermore, diffuse regenerative nodular areas without surrounding by fibrous tissue in the liver parenchyma were shown by histologi- cal examination. Therefore, the diagnosis of the case as NRH could be considered as reliable. The diminution of the hemoglobin, white blood cell, and platelet counts might be attributed to splenomegaly. Additionally, patients with signs of portal hypertension should be differenti- ated with idiopathic portal hypertension (IPH). The histological characteristics of IPH are as follows: fibrous tissue proliferation seen in por- tal tracts, thickening of the intrahepatic por- tal branches wall, morphological abnomality of portal branches distribute in portal tracts, and some even connected to sinusoidal in hepatic lobule. Although this patient was observed with manifestations of portal hypertension and dis-
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A Rare Case of Nasal Glial Heterotopia Presenting as Sphenochoanal Polyp

A Rare Case of Nasal Glial Heterotopia Presenting as Sphenochoanal Polyp

Objective: This paper reports a rare case of nasal glial heterotopia presenting as sphenochoanal polyp. So far, literature has revealed only few cases. Case Report: A 55-year-old woman presented with a 2-month history of left sided nasal obstruction. Rigid endoscopy showed greyish left nasal polyp and anterior discharge. Subsequently, CT scan of the sinuses revealed sphenochoanal polyp filling the left nasal cavity, without signs of expansion, or destruction and no obvious connection with intracranial tissue. Mass was removed endoscopically and histology confirmed glial nature of the mass. Conclusion: Any mass arising from sphenoid sinus should be carefully evaluated on CT scan for existence of fibrous stalk, or connection with brain tissue and needs to be considered in the differential diagnosis of the sphenochoanal mass. Complete surgical excision is the treatment of choice, which is curative.
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Clinical impact of duodenal pancreatic heterotopia – Is there a need for surgical treatment?

Clinical impact of duodenal pancreatic heterotopia – Is there a need for surgical treatment?

Malignant transformation of pancreatic heterotopia Several studies have demonstrated that any disease of the ordinary pancreas can also arise in the heterotopic tissue, such as acute and chronic pancreatitis, the occur- rence of pseudocystic changes, or even a malignant transformation to adenocarcinoma or acinar cell carcin- oma [3, 6, 10, 16, 28–30]. The present results are in line with these findings, as two out of 67 patients with PH developed adenocarcinoma by malignant transformation of the heterotopic pancreatic tissue (2.9%). Guillou et al. stated that the incidence of malignancy due to hetero- topic pancreatic tissue is 0.7% and therefore is extremely rare [13]. They studied the frequency of malignant trans- formations among 146 cases of PH between 1975 and 1991, including surgical and autopsy specimens. In a study by Makhlouf et al. two out of 109 patients (1.8%) with PH of the gastrointestinal tract were diagnosed with adenocarcinoma between 1970 and 1997 [12]. Malig- nancy is therefore a differential diagnosis and should be excluded. Furthermore, histopathological examination of the resected specimen of the 11 symptomatic patients in the present study showed chronic pancreatitis in seven cases (63.6%) and a duodenal tumor (adenoma) with no signs of chronic pancreatitis or malignancy in two cases (18%). Interestingly cystic lesions or NET arising from a duodenal PH were not found in our symptomatic sub- group. Furthermore, no specific Heinrich’s type was as- sociated with symptoms or malignancy.
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Factor Analysis of Relapse of Nodular Goiter

Factor Analysis of Relapse of Nodular Goiter

A number of authors note the occurrence of relapse of nodular non-toxic goiter in 5.8% of cases [7]. In 68% of cases, relapse occurred after the initial surgical intervention, where the volume of the operation did not exceed the resection of one or both lobes of the thyroid gland; in 16% of cases, relapse was detected after radical surgery, but was subsequently associated with a different morphological form of goiter, more severe than initially [5]. Some authors argue

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New insights into the diagnosis of nodular goiter

New insights into the diagnosis of nodular goiter

Nodular goiter is the most common pathology of the thyroid gland. Palpable thyroid nodules are found in 3-7% of adult population and are more frequent in women. Ultrasonography which has been introduced in the diagnosis of thyroid gland has confirmed earlier aut- opsy reports indicating that focal lesions are found in as many as 50% of clinically normal thyroid glands [1,2]. Preoperative diagnostic investigations of nodular goiter are currently based on two main examinations: ultraso- nography of the thyroid gland and ultrasound-guided fine-needle aspiration biopsy. Determining the eligibility of thyroid focal lesions for surgery has been more and more often done with molecular methods providing the
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