Esquizencefalia bilateral gigante de labio abierto

2022 ◽  
Vol 30 (3) ◽  
pp. 95-99
Author(s):  
Karina Sarango-Amay ◽  
Alberth Muñoz-Gualan

Schizencephaly is a rare congenital brain malformation characterized by clefts in the cerebral cortex, it is classified in Type I (open lip) and Type II (close-lip). Patients with schizencephaly present seizures, hydrocephalus, motor and mental deficits. Ultrasound is used for in-utero and newborns patients’ diagnosis, and MRI or CT for already born patients. The management of schizencephaly is conservative, with rehabilitation in motor or mental deficits, medication or surgery for seizures and shunt in hydrocephalus with increased intracranial pressure. In the literature, only few giant bilateral cases have been reported. We report a case of giant bilateral open lip schizencephaly, in a 10-day old male patient, presenting with mild hypotonia and no seizures. This case is rare because the relatively benign features compared to other reported cases.

1992 ◽  
Vol 50 (4) ◽  
pp. 539-542 ◽  
Author(s):  
Nélida S. Garretto ◽  
David Monteverde ◽  
Héctor Giócoli ◽  
Blanca I. Ravera ◽  
Hugo A. Molina ◽  
...  

Schwannomatosis is a rare disorder, still not quite well defined, seldom described in the literature. In this paper we report the case of male. Patient, 52 years old, who in the last 30 years developed five subcutaneous tumors within his limbs peripheral nerves, which histologically proved to be schwannomas. A brain computed tomography showed a partially calcified tumor in the left temporal lobe which most likely was a meningioma. A thorough clinical examination was unable to find signs of type I or type II neurofibromatosis. The present condition, probably a form of phacomatosis, has to be distinguished from neurofibromatosis and is considered as an independent clinical entity whose origin still awaits further detailed investigations.


2021 ◽  
Vol 14 ◽  
Author(s):  
Julie Polanco ◽  
Fredy Reyes-Vigil ◽  
Sarah D. Weisberg ◽  
Ilirian Dhimitruka ◽  
Juan L. Brusés

Type I and type II classical cadherins comprise a family of cell adhesion molecules that regulate cell sorting and tissue separation by forming specific homo and heterophilic bonds. Factors that affect cadherin-mediated cell-cell adhesion include cadherin binding affinity and expression level. This study examines the expression pattern of type I cadherins (Cdh1, Cdh2, Cdh3, and Cdh4), type II cadherins (Cdh6, Cdh7, Cdh8, Cdh9, Cdh10, Cdh11, Cdh12, Cdh18, Cdh20, and Cdh24), and the atypical cadherin 13 (Cdh13) during distinct morphogenetic events in the developing mouse central nervous system from embryonic day 11.5 to postnatal day 56. Cadherin mRNA expression levels obtained from in situ hybridization experiments carried out at the Allen Institute for Brain Science (https://alleninstitute.org/) were retrieved from the Allen Developing Mouse Brain Atlas. Cdh2 is the most abundantly expressed type I cadherin throughout development, while Cdh1, Cdh3, and Cdh4 are expressed at low levels. Type II cadherins show a dynamic pattern of expression that varies between neuroanatomical structures and developmental ages. Atypical Cdh13 expression pattern correlates with Cdh2 in abundancy and localization. Analyses of cadherin-mediated relative adhesion estimated from their expression level and binding affinity show substantial differences in adhesive properties between regions of the neural tube associated with the segmentation along the anterior–posterior axis. Differences in relative adhesion were also observed between brain nuclei in the developing subpallium (basal ganglia), suggesting that differential cell adhesion contributes to the segregation of neuronal pools. In the adult cerebral cortex, type II cadherins Cdh6, Cdh8, Cdh10, and Cdh12 are abundant in intermediate layers, while Cdh11 shows a gradated expression from the deeper layer 6 to the superficial layer 1, and Cdh9, Cdh18, and Cdh24 are more abundant in the deeper layers. Person’s correlation analyses of cadherins mRNA expression patterns between areas and layers of the cerebral cortex and the nuclei of the subpallium show significant correlations between certain cortical areas and the basal ganglia. The study shows that differential cadherin expression and cadherin-mediated adhesion are associated with a wide range of morphogenetic events in the developing central nervous system including the organization of neurons into layers, the segregation of neurons into nuclei, and the formation of neuronal circuits.


1980 ◽  
Vol 86 (3) ◽  
pp. 831-845 ◽  
Author(s):  
R K Carlin ◽  
D J Grab ◽  
R S Cohen ◽  
P Siekevitz

Postsynaptic densities (PSDs) have been isolated from cerebral cortex, midbrain, cerebellum, and brain stem by the Triton X-100 method previously used in the isolation of cerebral PSDs (Cohen et al., 1977, J. Cell Biol. 74:181). These PSDs have been compared in protein composition, protein phosphorylation, and morphology. Thin-section electron microscopy revealed that cerebral cortex and midbrain PSDs were identical, being approximately 57 nm thick and composed of apparent aggregates 20-30 nm in diameter. Isolated cerebellar PSDs appeared thinner (33 nm) than cerebral cortex PSDs and lacked the apparent 20- to 30-nm aggregates, but had a latticelike structure. In unidirectional and rotary-shadowed replicas, the cerebrum and midbrain PSDs were circular in shape with a large central perforation or hole in the center of them. Cerebellum PSDs did not have a large perforation, but did have numerous smaller perforations in a lattice like structure. Filaments (6-9 nm) were observed connecting possible 20- to 30-nm aggregates in cerebrum PSDs and were also observed radiating from one side of the PSD. Both cerebral cortex and midbrain PSDs exhibited identical protein patterns on SDS gel electrophoresis. In comparison, cerebellar PSDs (a) lacked the major 51,000 Mr protein, (b) contained two times less calmodulin, and (c) contained a unique protein at 73,000 Mr. Calcium plus calmodulin stimulated the phosphorylation of the 51,000 and 62,000 Mr bands in both cerebral cortex and midbrain PSDs. In cerebellar PSDs, only the 58,000 and 62,000 Mr bands were phosphorylated. In the PSDs from all brain regions, cAMP stimulated the phosphorylation of Protein Ia (73,000 Mr), Protein Ib (68.000 Mr), and a 60,000 Mr protein, although cerebrum and midbrain PSDs contained very much higher levels of phosphorylated protein than did the cerebellum. On the basis of the morphological criteria, it is possible that PSDs isolated from cerebrum and midbrain were derived from the Gray type I, or asymmetric, synapses, whereas cerebellum PSDs were derived from the Gray type II, or symmetric, synapses. Since there is some evidence that the type I synapses are involved in excitatory mechanisms while the type II are involved in inhibitory mechanisms, the role of the PSD and of some of its proteins in these synaptic responses is discussed.


1994 ◽  
Vol 14 (6) ◽  
pp. 930-938 ◽  
Author(s):  
Hidekazu Tomimoto ◽  
Masaki Nishimura ◽  
Toshihiko Suenaga ◽  
Sinichi Nakamura ◽  
Ichiro Akiguchi ◽  
...  

The distribution of nitric oxide synthase was investigated in human cerebral blood vessels and brain tissues. NADPH-diaphorase histochemistry, which is a marker for nitric oxide synthase in neurons and endothelial cells, revealed periadventitial nerve fibers in the arteries of the circle of Willis and their cortical branches, as well as the common carotid and subclavian arteries. The fibers were mostly nonvaricose in the periadventitial nerve trunk and were varicose within the adventitia. Patchy reaction products were distributed in the perinuclear region of each endothelial cell. Smooth muscle cells in the tunica media were weakly stained. Staining was particularly intense in regions with atherosclerotic changes, which consist of macrophage infiltration and proliferation of fibroblasts. In the neural parenchyma, two types of NADPH-diaphorase reactive neurons were differentiated. Type I neurons were intensely stained, medium-sized, and bipolar or multipolar. They were distributed in the cerebral cortex and white matter, mostly in the subcortical white matter. Type II neurons were lightly stained, small oval neurons with fine processes and were distributed in the cerebral cortex. Endothelial cells were intensely reactive for NADPH-diaphorase in the arteries, arterioles, and capillaries but weakly in veins. Immuno-histochemistry for neural nitric oxide synthase labeled perivascular nerves in the larger arteries and those in the neural parenchyma. Both type I and type II neurons were labeled. Nitric oxide synthase in endothelial cells and the nerve encircling blood vessels further suggests a dual control of cerebral circulation by nitric oxide in human brain.


2017 ◽  
Vol 13 (1) ◽  
pp. e1005349 ◽  
Author(s):  
Stewart Heitmann ◽  
Michael Rule ◽  
Wilson Truccolo ◽  
Bard Ermentrout

1988 ◽  
Vol 254 (3) ◽  
pp. E337-E341 ◽  
Author(s):  
D. H. Polk ◽  
S. Y. Wu ◽  
C. Wright ◽  
A. L. Reviczky ◽  
D. A. Fisher

Most of the thyroxine (T4) in fetal mammals is deiodinated to the inactive metabolite, reverse triiodothyronine (rT3), via an iodothyronine 5-monodeiodinase in fetal tissues. Maturation of the tissue 5'-monodeiodinase (MDI) enzymes required for conversion of T4 to active triiodothyronine (T3) in the rat, an altricial species, occurs in the postnatal period. To characterize fetal maturation of the enzymes for active T3 production in a precocial species, 5'-MDI activities were measured in liver, kidney, and brain tissue homogenates of ovine fetuses 13 days after total thyroidectomy (Tx) conducted at gestational ages of 99-107 or 129-132 days. Sham-operated twin fetuses served as controls. Hepatic type I 5'-MDI activity was not significantly lowered by Tx in group I but was significantly lower after Tx in group II fetuses. Renal type I 5'-MDI was not affected by Tx in either group. Type II 5'-MDI activity in cerebral cortex was significantly elevated after Tx in both groups I and II fetuses. Tissue sulfhydryl contents were similar in liver, kidney, and cerebral cortex from control and Tx fetuses in group I. These data indicate that hypothyroidism induced early in the third trimester is associated with increased brain type II 5'-MDI activity without significant change in liver or kidney type I 5'-MDI. Late third trimester hypothyroidism is associated with decreased type I 5'-MDI activity in liver homogenates as well as increased type II 5'-MDI activity in brain tissue.(ABSTRACT TRUNCATED AT 250 WORDS)


Author(s):  
Ronald S. Weinstein ◽  
N. Scott McNutt

The Type I simple cold block device was described by Bullivant and Ames in 1966 and represented the product of the first successful effort to simplify the equipment required to do sophisticated freeze-cleave techniques. Bullivant, Weinstein and Someda described the Type II device which is a modification of the Type I device and was developed as a collaborative effort at the Massachusetts General Hospital and the University of Auckland, New Zealand. The modifications reduced specimen contamination and provided controlled specimen warming for heat-etching of fracture faces. We have now tested the Mass. General Hospital version of the Type II device (called the “Type II-MGH device”) on a wide variety of biological specimens and have established temperature and pressure curves for routine heat-etching with the device.


Author(s):  
G. D. Gagne ◽  
M. F. Miller ◽  
D. A. Peterson

Experimental infection of chimpanzees with non-A, non-B hepatitis (NANB) or with delta agent hepatitis results in the appearance of characteristic cytoplasmic alterations in the hepatocytes. These alterations include spongelike inclusions (Type I), attached convoluted membranes (Type II), tubular structures (Type III), and microtubular aggregates (Type IV) (Fig. 1). Type I, II and III structures are, by association, believed to be derived from endoplasmic reticulum and may be morphogenetically related. Type IV structures are generally observed free in the cytoplasm but sometimes in the vicinity of type III structures. It is not known whether these structures are somehow involved in the replication and/or assembly of the putative NANB virus or whether they are simply nonspecific responses to cellular injury. When treated with uranyl acetate, type I, II and III structures stain intensely as if they might contain nucleic acids. If these structures do correspond to intermediates in the replication of a virus, one might expect them to contain DNA or RNA and the present study was undertaken to explore this possibility.


Author(s):  
T.A. Fassel ◽  
M.J. Schaller ◽  
M.E. Lidstrom ◽  
C.C. Remsen

Methylotrophic bacteria play an Important role in the environment in the oxidation of methane and methanol. Extensive intracytoplasmic membranes (ICM) have been associated with the oxidation processes in methylotrophs and chemolithotrophic bacteria. Classification on the basis of ICM arrangement distinguishes 2 types of methylotrophs. Bundles or vesicular stacks of ICM located away from the cytoplasmic membrane and extending into the cytoplasm are present in Type I methylotrophs. In Type II methylotrophs, the ICM form pairs of peripheral membranes located parallel to the cytoplasmic membrane. Complex cell wall structures of tightly packed cup-shaped subunits have been described in strains of marine and freshwater phototrophic sulfur bacteria and several strains of methane oxidizing bacteria. We examined the ultrastructure of the methylotrophs with particular view of the ICM and surface structural features, between representatives of the Type I Methylomonas albus (BG8), and Type II Methylosinus trichosporium (OB-36).


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