scholarly journals Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Y. Sifi ◽  
K. Sifi ◽  
A. Boulefkhad ◽  
N. Abadi ◽  
Z. Bouderda ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Intermediate Form ◽  
Type I ◽  
Type Ii ◽  
Type Iii ◽  
Type Iv ◽  
Form Type ◽  
Homozygous Deletions

Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disorder. It is divided into the acute Werdnig-Hoffmann disease (type I), the intermediate form (type II), the Kugelberg-Welander disease (type III), and the adult form (type IV). The gene involved in all four forms of SMA, the so-called survival motor neuron (SMN) gene, is duplicated, with a telomeric (tel SMN or SMN1) and a centromeric copy (cent SMN or SMN2). SMN1 is homozygously deleted in over 95% of SMA patients. Another candidate gene in SMA is the neuronal apoptosis inhibitory protein (NAIP) gene; it shows homozygous deletions in 45–67% of type I and 20–42% of type II/type III patients. Here we studied the SMN and NAIP genes in 92 Algerian SMA patients (20 type I, 16 type II, 53 type III, and 3 type IV) from 57 unrelated families, using a semiquantitative PCR approach. Homozygous deletions of SMN1 exons 7 and/or 8 were found in 75% of the families. Deletions of exon 4 and/or 5 of the NAIP gene were found in around 25%. Conversely, the quantitative analysis of SMN2 copies showed a significant correlation between SMN2 copy number and the type of SMA.

scholarly journals Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients

1999 ◽  
Vol 22 (4) ◽  
pp. 487-492 ◽  
Author(s):  
C.A. Kim ◽  
M.R. Passos-Bueno ◽  
S.K. Marie ◽  
A. Cerqueira ◽  
U. Conti ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Survival Motor Neuron ◽  
Type I ◽  
Type Ii ◽  
Inhibitory Protein ◽  
Type Iii ◽  
Smn Gene ◽  
Naip Gene

Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1:10,000 newborns. SMA is divided into acute (Werdnig-Hoffmann disease, type I), intermediate (type II) and juvenile forms (Kugelberg-Welander disease, type III). The gene of all three forms of SMA maps to chromosome 5q 11.2-13.3. Two candidate genes, the survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene, have been identified; SMN is deleted in most SMA patients. We studied both genes in 87 Brazilian SMA patients (20 type I, 14 type II and 53 type III) from 74 unrelated families, by using PCR and single strand conformation polymorphism (SSCP). Deletions of exons 7 and/or 8 of the SMN gene were found in 69% of the families: 16/20 in type I, 9/12 in type II and 26/42 in type III. Among 51 families with deletions, 44 had both exons deleted while seven had deletions only of exon 7. Deletions of exon 5 of the NAIP gene were found in 7/20 of type I, 2/12 of type II and 1/42 of type III patients. No deletion of SMN and NAIP genes was found in 112 parents, 26 unaffected sibs and 104 normal controls. No correlation between deletions of one or both genes and phenotype severity was found.

scholarly journals Application of DNA-based tests for diagnosis of spinal muscular atrophy in Saudi Arabia

1999 ◽  
Vol 5 (6) ◽  
pp. 1225-1229
Author(s):  
S. Al Rajeh ◽  
R. Majumdar ◽  
A. Awada ◽  
M. Al Jumah
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Survival Motor Neuron ◽  
Type I ◽  
Type Ii ◽  
Inhibitory Protein ◽  
Neuronal Apoptosis Inhibitory Protein ◽  
Smn Gene ◽  
Naip Gene ◽  
Homozygous Deletions

We examined the deletion of the survival motor neuron [SMN] and neuronal apoptosis inhibitory protein [NAIP]genes in patients with spinal muscular atrophy [SMA] using polymerase chain reaction followed by restriction site assay methods. The study included 16 Saudi patients [9 SMA type I and 7 SMA type II]and 6 healthy Saudi volunteers. The homozygous deletions of exons 7 and 8 of the telomeric SMN gene, and exon 5 of the NAIP gene were found in all SMA type I patients. Exons 7 and 8 of telomeric SMN were deleted in all SMA type II patients. However, exon 5 of NAIP was deleted in three of the seven cases. All control volunteers and all family members of the patients had normal SMN and NAIP. The incidence of NAIP deletion was higher in the more severe SMA cases and the dual deletion of the SMN and NAIP genes was more common in Saudi SMA type I patients compared with patients of other ethnic groups

Labelling of non-A, non-B hepatitis infected chimpanzee hepatocytes with nuclease-gold conjugates

1984 ◽  
Vol 42 ◽  
pp. 250-251
Author(s):  
G. D. Gagne ◽  
M. F. Miller ◽  
D. A. Peterson
Keyword(s):  
Endoplasmic Reticulum ◽  
Experimental Infection ◽  
Uranyl Acetate ◽  
Type I ◽  
Cellular Injury ◽  
Type Ii ◽  
Tubular Structures ◽  
Type Iii ◽  
Type Iv ◽  
Infected Chimpanzee

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.

scholarly journals Brachial supporting structure of Spiriferida (Brachiopoda)

2020 ◽  
pp. 1-15
Author(s):  
Zhiwei Yuan ◽  
Wen Guo ◽  
Dan Lyu ◽  
Yuanlin Sun
Keyword(s):  
Mantle Cavity ◽  
Family Type ◽  
Type I ◽  
Type Ii ◽  
Feeding Apparatus ◽  
Single Family ◽  
Supporting Structure ◽  
Type Iii ◽  
Type Iv ◽  
Evolutionary Lineages

Abstract The filter-feeding organ of some extinct brachiopods is supported by a skeletal apparatus called the brachidium. Although relatively well studied in Atrypida and Athyridida, the brachidial morphology is usually neglected in Spiriferida. To investigate the variations of brachidial morphology in Spiriferida, 65 species belonging to eight superfamilies were analyzed. Based on the presence/absence of the jugal processes and normal/modified primary lamellae of the spiralia, four types of brachidium are recognized. Type-I (with jugal processes) and Type-II (without jugal processes), both having normal primary lamellae, could give rise to each other by losing/re-evolving the jugal processes. Type-III, without jugal processes, originated from Type-II through evolution of the modified lateral-convex primary lamellae, and it subsequently gave rise to Type-IV by evolving the modified medial-convex primary lamellae. The evolution of brachidia within individual evolutionary lineages must be clarified because two or more types can be present within a single family. Type-III and Type-IV are closely associated with the prolongation of the crura, representing innovative modifications of the feeding apparatus in response to possible shift in the position of the mouth towards the anterior, allowing for more efficient feeding on particles entering the mantle cavity from the anterior gape. Meanwhile, the modified primary lamellae adjusted/regulated the feeding currents. The absence of spires in some taxa with Type-IV brachidium might suggest that they developed a similar lophophore to that in some extant brachiopods, which can extend out of the shell.

Response properties of units in the dorsal cochlear nucleus of unanesthetized decerebrate gerbil

1996 ◽  
Vol 75 (4) ◽  
pp. 1411-1431 ◽  
Author(s):  
K. A. Davis ◽  
J. Ding ◽  
T. E. Benson ◽  
H. F. Voigt
Keyword(s):  
Dorsal Cochlear Nucleus ◽  
Type I ◽  
Type Ii ◽  
Decerebrate Cat ◽  
Excitatory Response ◽  
Type Iii ◽  
Type Iv ◽  
Noise Type ◽  
Rate Versus ◽  
Excitatory Responses

1. The electrophysiological responses of single units in the dorsal cochlear nucleus of unanesthetized decerebrate Mongolian gerbil (Meriones unguiculatus) were recorded. Units were classified according to the response map scheme of Evans and Nelson as modified by Young and Brownell, Young and Voigt, and Shofner and Young. Type II units have a V-shaped excitatory response map similar to typical auditory nerve tuning curves but little or no spontaneous activity (SpAc < 2.5 spikes/s) and little or no response to noise. Type I/III units also have a V-shaped excitatory map and SpAc < 2.5 spikes/s, but have an excitatory response to noise. Type III units have a V-shaped excitatory map with inhibitory sidebands, SpAc > 2.5 spikes/s, and an excitatory response to noise. Type IV-T units typically also have a V-shaped excitatory map with inhibitory sidebands, but have a highly nonmonotonic rate versus level response to best frequency (BF) tones like type IV units, SpAc > 2.5 spikes/s, and an excitatory response to noise. Type IV units have a predominantly inhibitory response map above an island of excitation of BF, SpAc > 2.5 spikes/s, and an excitatory response to noise. We present results for 133 units recorded with glass micropipette electrodes. The purpose of this study was to establish a normative response map data base in this species for ongoing structure/function and correlation studies. 2. The major types of units (type II, type I/III, type III, type IV-T, and type IV) found in decerebrate cat are found in decerebrate gerbil. However, the percentage of type II (7.5%) and type IV (11.3%) units encountered are smaller and the percentage of type III (62.4%) units is larger in decerebrate gerbil than in decerebrate cat. In comparison, Shofner and Young found 18.5% type II units, 30.6% type IV units, and 23.1% type III units using metal electrodes. 3. Two new unit subtypes are described in gerbil: type III-i and type IV-i units. Type III-i units are similar to type III units except that type III-i units are inhibited by low levels of noise and excited by high levels of noise whereas type III units have strictly excitatory responses to noise. Type IV-i units are similar to type IV units except that type IV-i units are excited by low levels of noise and become inhibited by high levels of noise whereas type IV units have strictly excitatory responses to noise. Type III-i units are approximately 30% of the type III population and type IV-i units are approximately 50% of the type IV population. 4. On the basis of the paucity of classic type II units and the reciprocal responses to broadband noise of type III-i and type IV-i units, we postulate that some gerbil type III-i units are the same cell type and have similar synaptic connections as cat type II units. 5. Type II and type I/III units are distinguished from one another on the basis of both their relative noise response, rho, and the normalized slope of the BF tone rate versus level functions beyond the first maximum. Previously, type II units were defined to be those nonspontaneously active units with rho values < 0.3 where rho is defined as the ratio of the maximum noise response minus spontaneous rate to the maximum BF tone response minus spontaneous rate. In the gerbil, the average rho value for type II units is 0.25, although a few values are > 0.3, and the rate-level curves are consistently nonmonotonic with normalized slopes steeper than than -0.007/dB. The average rho value for type I/III units is 0.54, although a few values are < 0.3, and the rate-level curves tend to saturate with slopes shallower than -0.006/dB. In general, the response properties of type II units recorded in gerbil are similar to those recorded in decerebrate cat. 6. In comparison to decerebrate cat, the lower percentage of type IV units recorded in decerebrate gerbil may be due to a species difference (a reduced number of type II units in gerbil) or an electrode bias.

scholarly journals Charcot-Marie-Tooth disease type 2S: Case report of a rare form associated with spinal muscular atrophy type IV

2021 ◽  
Vol 12 ◽  
pp. 1-6
Author(s):  
Marco Orsini ◽  
Acary Souza Bulle Oliveira ◽  
Antônio Marcos da Silva Catharino ◽  
Mauricio Sant’ Anna Junior ◽  
Felipe dos Santos Souza ◽  
...  
Keyword(s):  
Case Report ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Type ◽  
Rare Form ◽  
Charcot Marie Tooth ◽  
Spinal Muscular Atrophy Type ◽  
Charcot Marie Tooth Disease ◽  
Type Iv ◽  
Tooth Disease

scholarly journals Types of Lens Structure in Intumescent Cataract

2018 ◽  
Vol 15 (2S) ◽  
pp. 153-159
Author(s):  
E. S. Pirogova ◽  
O. L. Fabrikantov ◽  
S. I. Nikolashin
Keyword(s):  
Irrigation System ◽  
Anterior Segment ◽  
Type I ◽  
Type Ii ◽  
Large White ◽  
Type Iii ◽  
Associated Diseases ◽  
Type Iv ◽  
The Mean ◽  
Anatomical Parameters

Purpose: to study the structure of the swelling lens, the dependence of its anatomical parameters on the nucleus sizes and density, patients’ age.Patients and methods. 52 patients with intumescent mature cataract were examined. All patients underwent phacoemulsification with a two-stage continuous circular capsulorhexis. After the 2–2.5 mm capsulorhexis had been created, the liquid lenticular masses were removed from the anterior and posterior lens compartment with the aspiration/irrigation system. Visually we determined the size of the nucleus, its color and density according to Buratto’s classification.Results. When performing this work 4 types of the swelling lens structure were revealed. Type I — a small emerging white nucleus with large amount of liquid lenticular masses in the anterior and posterior lens compartment, II degree of density according to Buratto’s classification. The mean age was 49.09 ± 3.19 years old. The related ophthalmic diseases accounted for 36.4%. Type II — a large white nucleus with the presence of liquefied lenticular masses in the anterior and posterior lens compartment. III degree of density according to Buratto’s classification. The mean age was 71.00 ± 1.92 years old. Associated diseases — 84.6%. Type III — a large brown nucleus with the presence of liquefied lenticular masses in the anterior and posterior lens compartment. IV degree of density according to Buratto’s classification. The mean age was 75.84 ± 1.46 years old. Associated diseases — 100%. Type IV — a small, very dense, brown nucleus with liquid lenticular masses. V degree of density according to Buratto’s classification. The mean age was 77.33 ± 2.49 years old. Associated diseases — 100%.Conclusion. 4 types of lens structure in intumescent cataract were described depending on the nucleus size, density, the amount of the lenticular masses. By means of UBM method, it was shown that intumescent cataract is accompanied with the alterations of the ocular anterior segment parameters, which depend on the type of lens structure. It was revealed that the types of swelling lens structure are directly connected to the patients’ age: mean age of patients with type I — 49.09 ± 3.19 years old, with type II — 71.00 ± 1.92, with type III — 75.84 ± 1.46, with type IV — 77.33 ± 2.49 years old. 

scholarly journals Quality of life of  children with spinal muscular atrophy  and their caregivers  from the perspective of caregivers :  a Chinese cross-sectional study

2020 ◽  
Author(s):  
Mei Yao ◽  
Ying Ma ◽  
Ruiying Qian ◽  
Yu Xia ◽  
Changzheng Yuan ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscular Atrophy ◽  
Cross Sectional Study ◽  
Type I ◽  
Type Ii ◽  
Cross Sectional ◽  
Type Iii ◽  
Quality Of Life Inventory ◽  
Life Inventory

Abstract Background: Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the QoL of children with SMA and their caregivers and to identify the factors associated with QoL in a cross-sectional study conducted in China.Methods: We recruited 101 children aged 0-17 years with SMA and their caregivers from a children’s hospital in China. Twenty-six children had type I SMA, 56 type II and 19 type III. Each child’s QoL was measured by the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module (PedsQL NMM), which was completed by the child’s caregivers. The caregiver’s QoL was measured by the Pediatric Quality of Life Inventory Family Impact Module (PedsQL FIM). Information on sociodemographic characteristics, disease-specific characteristics, and treatments were collected using the proxy-reported questionnaire. Two-sample t-tests and one-way ANOVA were used to compare differences in average scores of QoL across subgroups.Results: Children with type III SMA had a higher average Total score of PedsQL NMM and higher average scores in domains Neuromuscular disease and Family resources than children with type I or type II SMA (p < 0.001). Caregivers of children with type III SMA reported higher average scores in the domains of Physical, Emotional, Social, and Cognitive functioning of the PedsQL FIM than those of children with types I or II SMA (p < 0.05). In addition, disease-related characteristics (e.g. limited mobility, stable course of disease, skeleton deformity, and digestive system dysfunction) and respiratory support were associated with lower average scores of PedsQL NMM and PedsQL FIM (p < 0.05). Exercise training, multidisciplinary team management and use of the medication Nusinersen were each associated with higher average scores in both PedsQL NMM and FIM (p < 0.05). Conclusion: Our study has demonstrated factors that may impair or improve QoL of children patients with SMA and their parents. Particularly, QoL was relatively poor in children with type I and type II SMA as well as in their caregivers compared to those with type III SMA. We strongly recommend that standard of care in a multidisciplinary team (MDT) be strengthened to improve the QoL of SMA patients. Our study called for increased attention from clinical physicians on measuring QoL in their clinical practices in order to enhance the understanding of impacts of SMA and to make better decisions regarding treatment.

scholarly journals Relationship Between Pulmonary Hamartoma and Bronchus: Multislice Spiral Computed Tomography Findings

2021 ◽  
Author(s):  
Ping Wang ◽  
Heng Ma ◽  
Qinglin Yang ◽  
Chengzhou Zhang
Keyword(s):  
Computed Tomography ◽  
Spiral Computed Tomography ◽  
Type I ◽  
Tumor Type ◽  
Type Ii ◽  
Spiral Computed ◽  
Type Iii ◽  
Multislice Spiral Computed Tomography ◽  
Type Iv ◽  
Sign Type

Abstract Objective The aim of the present study is to investigate the relationship between pulmonary hamartomas (PHs) and bronchi on multislice spiral computed tomography (MSCT) images. Methods The MSCT scans of 218 PHs from 216 pathologically confirmed patients were reviewed. The PHs were divided into two groups, namely, the central endobronchial and intraparenchymal groups, in accordance with location. Multiplanar reconstruction was used to demonstrate PH–bronchus relationship patterns. The PH–bronchus relationships in the intraparenchymal group were classified into five patterns: type I, the bronchus was cut off by the tumor; type II, the bronchus was contained within the tumor (air bronchogram sign); type III, the bronchus ran at the tumor periphery or was compressed by the tumor; and type IV, no tumor–bronchus relationship was observed. Results Nine (4.1%) PHs were assigned to the central endobronchial group and 209 (95.9%) PHs were assigned to the intraparenchymal group. In the endobronchial group, 1 (11.1%) PH was located in the trachea with the partial stenosis of the trachea, whereas the remaining 8 (88.9%) PHs were located in the lobar or segmental bronchus with the complete occlusion of the corresponding bronchus. In the intraparenchymal group, type IV (147, 70.3%) was most common pattern, followed by type III (54, 25.8%). Type I (8, 3.8%) was rare, and type II was not observed. Conclusion Central endobronchial PHs often obstructed bronchi, whereas only a few intraparenchymal PHs cut off bronchi. No air bronchogram sign was observed.

Electrophysiological Characteristics of Classes of Neuron in the HVc of the Zebra Finch

1998 ◽  
Vol 80 (2) ◽  
pp. 914-923 ◽  
Author(s):  
Michinori Kubota ◽  
Ikuo Taniguchi
Keyword(s):  
Action Potential ◽  
Zebra Finch ◽  
Action Potential Duration ◽  
The Other ◽  
Time Dependent ◽  
Inward Rectification ◽  
Type I ◽  
Type Ii ◽  
Type Iii ◽  
Type Iv

Kubota, Michinori and Ikuo Taniguchi. Electrophysiological characteristics of classes of neuron in the HVc of the zebra finch. J. Neurophysiol. 80: 914–923, 1998. Whole cell recordings were made from zebra finch HVc neurons in slice preparations. Four distinct classes of neuron were found on the basis of their electrophysiological properties. The morphological characteristics of some of these neurons were also examined by intracellular injection of Lucifer yellow. Type I neurons (21 of 65 cells) had longer time-to-peak of an afterhyperpolarization following an action potential than the other classes. They exhibited both fast and time-dependent inward rectification and an initial high-frequency firing followed by a slower constant firing. Type I neurons had large somata and thick dendrites with many spines. The axons of some of the neurons in this class projected in the direction of area X of the parolfactory lobe. Type II neurons (30 of 65 cells) had a more negative resting membrane potential than the other classes. They exhibited fast inward rectification. Type II neurons could be divided into two subclasses by the absence (IIa; 22 cells) and the presence (IIb; 8 cells) of a low-threshold transient depolarization. Type IIa neurons had relatively small somata and thin, spiny dendrites. The axons of some of the neurons in this class projected in the direction of the robust nucleus of the archistriatum (RA). Type IIb neurons had relatively large somata and thick dendrites with many spines. Type III neurons (6 of 65 cells) had a shorter action-potential duration than the other classes. They exhibited prominent time-dependent inward rectification and a regular tonic firing with little or no accommodation. Type III neurons had beaded, aspiny dendrites. Type IV neurons (8 of 65 cells) had a longer action-potential duration, a much larger input resistance, and longer membrane time constant than the other classes. Type IV neurons had small somata and thin, short, sparsely spiny dendrites. The axons of some of the neurons in this class projected in the direction of the RA. These classes of neuron may play distinct roles in song production and representation in the HVc.

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