ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features

Neurology ◽  
2020 ◽  
Vol 95 (11) ◽  
pp. e1500-e1511 ◽  
Author(s):  
Yoshihiko Saito ◽  
Atsuko Nishikawa ◽  
Aritoshi Iida ◽  
Madoka Mori-Yoshimura ◽  
Yasushi Oya ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Lipid Droplets ◽  
Vastus Lateralis ◽  
Nemaline Myopathy ◽  
The Other ◽  
Clinicopathologic Features ◽  
Paraspinal Muscles ◽  
Leg Muscles ◽  
Ventilatory Insufficiency ◽  
Nemaline Bodies

ObjectiveTo elucidate the prevalence of Japanese ADSSL1 myopathy and determine the clinicopathologic features of the disease.MethodsWe searched for ADSSL1 variants in myopathic patients from January 1978 to March 2019 in our repository and assessed the clinicopathologic features of patients with variants.ResultsWe identified 63 patients from 59 families with biallelic variants of ADSSL1. Among the 7 distinct variants identified, c.781G>A and c.919delA accounted for 53.2% and 40.5% of alleles, respectively, suggesting the presence of common founders, while the other 5 were novel. Most of the identified patients displayed more variable muscle symptoms, including symptoms in the proximal and/or distal leg muscles, tongue, masseter, diaphragm, and paraspinal muscles, in adolescence than previously reported patients. Dysphagia with masticatory dysfunction developed in 26 out of 63 patients; hypertrophic cardiomyopathy developed in 12 out of 48 patients; and restrictive ventilatory insufficiency developed in 26 out of 34 patients in later stages. Radiologically, fat infiltration into the periphery of vastus lateralis, gastrocnemius, and soleus muscles was observed in all patients. Pathologically, nemaline bodies in addition to increased lipid droplets and myofibrillar disorganization were commonly observed in all patients, suggesting that the disease may be classified as nemaline myopathy. This finding revealed that ADSSL1 myopathy is the most frequent among all genetically diagnosable nemaline myopathies in our center.ConclusionsADSSL1 myopathy is characterized by more variable manifestations than previously reported. It is the most common among all genetically diagnosable nemaline myopathies in our center, although mildly increased lipid droplets are also constantly observed features.

An ultrastructural study on the shark liver

1990 ◽  
Vol 48 (3) ◽  
pp. 512-513
Author(s):  
Masako Yamada ◽  
Yutaka Tanuma
Keyword(s):  
Portal Vein ◽  
Kupffer Cells ◽  
Ultrastructural Study ◽  
Lipid Droplets ◽  
Microscopic Level ◽  
The Other ◽  
Fish Stock ◽  
Structural Studies ◽  
Light Microscopic Level ◽  
Perfusion Fixation

Although many fine structural studies on the vertebrate liver have been reported on mammals, avians, reptiles, amphibians, teleosts and cyclostomes, there are no studies on elasmobranchii liver except one by T. Ito etal. (1962) who studied it on light microscopic level. The purpose of the present study was to as certain the ultrastructural details and cytochemical characteristics of normal elasmobranchii liver and was to compare with the other higher vertebrate ones.Seventeen Scyliorhinus torazame, one kind of elasmobranchii, were obtained from the fish stock of the Ueno Zoo aquarium, Ueno, Tokyo. The sharks weighing about 300-600g were anesthetized with MS-222 (Sigma), and the livers were fixed by perfusion fixation via the portal vein according to the procedure of Y. Saito et al. (1980) for 10 min. Then the liver tissues were immersed in the same fixative for 2 hours and postfixed with 1% OsO4-solution in 0.1 Mc acodylate buffer for one hour. In order to make sure a phagocytic activity of Kupffer cells, latex particles (0.8 μm in diameter, 0.05mg/100 g b.w.) were injected through the portal vein for one min before fixation. For preservation of lipid droplets in the cytoplasm, a series of these procedure were performed under ice cold temperature until the end of dehydration.

Neurosecretory Cells in the Optic Tentacles of Certain Pulmonates

1962 ◽  
Vol s3-103 (62) ◽  
pp. 211-226
Author(s):  
NANCY J. LANE
Keyword(s):  
Cell Body ◽  
Lipid Droplets ◽  
Cell Types ◽  
Neurosecretory Cells ◽  
The Other ◽  
Oval Cells

Cells considered to be neurosecretory have been observed in the optic tentacles of certain stylommatophoran pulmonates. Such cells are divisible into three distinct types, of which those called the ‘collar’ cells surround the central digitate ganglion and eye. The other two types, the ‘lateral oval’ and the ‘lateral processed’ cells, lie laterally in the tentacle, on the inner edge of the outer dermo-muscular sheath. All three cell-types have branching dendritic processes, containing granules. The dendrites of the collar and of the lateral cells apparently extend from the cell-body to the surface of the epithelium. The axonal processes of all three types are thick and contain granules. The ground cytoplasm of these cells is scarcely visible owing to the great number of homogeneous, spheroidal granules that are present. The granules are sudanophil, and the ones in the collar cells contain phospholipid (probably cerebroside as well). All three types of cells contain a much smaller number of lipid droplets, with sudanophil and osmiophil externum and sudanophobe and osmiophobe internum; these are dispersed through the cytoplasm. Special ‘perinuclear bodies’, also binary in structure, are present in the collar cells and lateral oval cells. Cells of the types described in this paper have not been found in other sub-classes of the Gastropoda, nor in the Basommatophora, but only in the pulmonate order, Stylommatophora. They appear to form an area of active neurosecretion in the retractile tentacles of these animals.

scholarly journals The Effect of Systemic and Regional Use of Magnesium Sulfate on Postoperative Tramadol Consumption in Lumbar Disc Surgery

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Melek Demiroglu ◽  
Canan Ün ◽  
Dilsen Hatice Ornek ◽  
Oya Kıcı ◽  
Ali Erdem Yıldırım ◽  
...  
Keyword(s):  
Side Effects ◽  
Postoperative Analgesia ◽  
Lumbar Disc ◽  
Demographic Data ◽  
The Other ◽  
Lumbar Disc Surgery ◽  
Paraspinal Muscles ◽  
Pain Scores ◽  
Disc Surgery ◽  
C 30

Aim.To investigate the effect of magnesium administered to the operative region muscle and administered systemically on postoperative analgesia consumption after lumbar disc surgery.Material and Method.The study included a total of 75 ASA I-II patients aged 18–65 years. The patients were randomly allocated into 1 of 3 groups of 25: the Intravenous (IV) Group, the Intramuscular (IM) Group, and the Control (C) Group. At the stage of suturing the surgical incision site, the IV Group received 50 mg/kg MgSO4intravenously in 150 mL saline within 30 mins. In the IM Group, 50 mg/kg MgSO4in 30 mL saline was injected intramuscularly into the paraspinal muscles. In Group C, 30 mL saline was injected intramuscularly into the paraspinal muscles. After operation patients in all 3 groups were given 100 mg tramadol and 10 mg metoclopramide and tramadol solution was started intravenously through a patient-controlled analgesia device. Hemodynamic changes, demographic data, duration of anesthesia and surgery, pain scores (NRS), the Ramsay sedation score (RSS), the amount of analgesia consumed, nausea- vomiting, and potential side effects were recorded.Results.No difference was observed between the groups. Nausea and vomiting side effects occurred at a rate of 36% in Group C, which was a significantly higher rate compared to the other groups (p<0.05). Tramadol consumption in the IM Group was found to be significantly lower than in the other groups (p<0.05).Conclusion.Magnesium applied to the operative region was found to be more effective on postoperative analgesia than systemically administered magnesium.

Distribution and size of lipid droplets in oocytes recovered from young lamb and adult ovine ovaries

2020 ◽  
Vol 32 (11) ◽  
pp. 1022
Author(s):  
Amirhossein Abazarikia ◽  
Federica Ariu ◽  
Mahsa Rasekhi ◽  
Mahdi Zhandi ◽  
Sergio Ledda
Keyword(s):  
Lipid Droplets ◽  
Nile Red ◽  
The Other ◽  
Pattern Distribution

This study evaluated the distribution and size of lipid droplets (LDs) in oocytes recovered from young and adult ovine ovaries. Collected oocytes were categorised on the basis of their major diameter (small (SO), 70–90 µm; medium (MO), &gt;90–110 µm; large (LO), &gt;110–130µm) and were stained with Nile red to detect LDs. In adult and young oocytes, a diffuse pattern distribution of LDs was dominant in all classes except adult LO and young SO and LO. Larger LDs (i.e. &gt;3µm) were mostly present in young SO and LO, whereas smaller LDs (1–3µm) were detected in the other adult and young oocyte categories.

scholarly journals Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese

2019 ◽  
Vol 78 (9) ◽  
pp. 854-864 ◽  
Author(s):  
Han-Chih Hencher Lee ◽  
Shun Wong ◽  
Frank Ying-Kit Leung ◽  
Luen-Cheung Ho ◽  
Siu-Ki Timothy Chan ◽  
...  
Keyword(s):  
Hong Kong ◽  
Autosomal Recessive ◽  
Genetic Variant ◽  
Polymorphic Marker ◽  
Nemaline Myopathy ◽  
Ultrastructural Examination ◽  
Genetic Studies ◽  
Ethnic Chinese ◽  
Muscle Disorder ◽  
Nemaline Bodies

Abstract KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic Chinese presenting within 3 years, which are confirmed with clinicopathologic features and genetic studies. The incidence is estimated to be at least 1 in 45 226 livebirths (at least 1 in 41 608 among ethnic Chinese livebirths) in Hong Kong. Hyponatremia appears to be another common feature in these patients. Salient histological features include nemaline bodies ranging from 200 to 500 nm in diameters on ultrastructural examination as well as negative KLHL40 immunohistochemistry; type II fiber predominance is obvious in 2 cases. We demonstrate the founder effect associated with genetic variant c.1516A>C (p.Thr506Pro) by polymorphic marker analysis, which revealed a 0.56–0.75-Mb or 0.41–0.78-cM shared haplotype encompassing the disease allele. The mutation is believed to have occurred around 412 generations ago or 6220 BCE, as estimated using DMLE+ and a formula described by Boehnke. We believe the founder variant might possibly underlie a sizable portion of nemaline myopathy in ethnic Chinese. Analysis of the KLHL40 gene may be considered as the first-tier testing of congenital myopathy in this ethnic group.

Fractional rate of protein synthesis in liver and in individual muscles of lambs: effect of time of sampling following the use of the continuous infusion technique

1987 ◽  
Vol 108 (2) ◽  
pp. 511-514 ◽  
Author(s):  
R. A. Hunter ◽  
Jane B. Davey ◽  
P. J. Buttery
Keyword(s):  
Protein Synthesis ◽  
Vastus Lateralis ◽  
Considerable Effect ◽  
The Body ◽  
Leg Muscles ◽  
Fractional Rate ◽  
Vastus Intermedius ◽  
Ruminant Animals ◽  
Substantial Decline ◽  
Infusion Technique

There is little information on rates of protein synthesis in individual muscles in ruminant animals. Skeletal muscle is the largest single tissue and, as such, has a considerable effect on nitrogen transactions in the body. Arnal (1977) found a substantial decline in synthetic rate between 1 and 16 weeks of age in lambs and also observed differences between red and white muscles. Bryant & Smith (1982a) measured synthesis in several muscles of mature sheep and they observed lower rates than Arnal (1977) with little difference between most muscles. Vastus intermedius muscle in the hind leg, however, had higher rates of synthesis than other muscles. Here we report rates of protein synthesis in individual muscles in rapidly growing lambs approximately 12 weeks of age. The major back muscle, the longissimus dorsi, and two hind leg muscles, the vastus lateralis and the vastus intermedius, were chosen for study.

scholarly journals The Relationship Between Additional Heads of the Quadriceps Femoris, the Vasti Muscles and the Patellar Ligament

2021 ◽  
Author(s):  
Łukasz Olewnik ◽  
Kacper Ruzik ◽  
Bartłomiej Szewczyk ◽  
Michał Podgórski ◽  
Paloma Aragonés ◽  
...  
Keyword(s):  
Vastus Lateralis ◽  
Rectus Femoris ◽  
Quadriceps Femoris ◽  
The Other ◽  
Lower Limbs ◽  
Patellar Ligament ◽  
Vastus Medialis ◽  
Vastus Intermedius ◽  
Deep Layers ◽  
The Relationship

Abstract Introduction: The quadriceps femoris consists of four muscles: the rectus femoris, vastus medialis, vastus intermedius and vastus lateralis. However, the effect of additional quadriceps femoris heads on the vasti muscles and patellar ligaments is unknown.Materials and Methods: One hundred and six lower limbs (34 male and 19 female cadavers) fixed in 10% formalin were examined.Results: On all lower extremities, the vastus lateralis consisted of superficial, intermediate and deep layers. The vastus medialis, on the other hand, consisted of only the longus and obliquus layers. Additional quadriceps femoris heads affected both the vasti muscles and the patellar ligaments.Conclusion: There is a strong correlation between the presence of accessory quadriceps femoris heads and effects on vasti muscles and patellar ligament.

scholarly journals X-ray microanalysis of aldehyde-fixed glycogen contrast-stained by OsVI . FeII and OsVI . RuIV complexes.

1980 ◽  
Vol 28 (11) ◽  
pp. 1242-1250 ◽  
Author(s):  
W C de Bruijn ◽  
J M van Buitenen
Keyword(s):  
Electron Microscope ◽  
Complex Formation ◽  
Rat Liver ◽  
Lipid Droplets ◽  
Liver Glycogen ◽  
The Other ◽  
Glutaraldehyde Fixation ◽  
Fixed Tissue ◽  
X Ray ◽  
The Mean

The composition of the contrast-donating complex of rat liver glycogen, nucleoplasm, erythrocytes, and mitochondria was established by X-ray microanalysis. In these compartments the presence of osmium and iron was shown qualitatively in tissue after glutaraldehyde fixation, treated with OsVIIIO4 plus K4FeII(CN)6 and in similar tissue treated with a combination of K2OsVIO4 plus K4FeII(CN)6. Osmium and ruthenium were detected in these compartments, in aldehyde-fixed tissue treated with mixtures containing K2RuIVL(CN)6 rather than K4FeII(CN)6. The iron detected in the glycogen, nucleoplasm, erythrocytes, and mitochondria of tissue treated with K2RuIV(CN)6 mixtures proved to derive from sources inside the electron microscope, and had to be considered an artifact. Quantitatively, the mean atomic ratios of osmium-to-iron and osmium-to-ruthenium were determined from spectra obtained by point analyses of the same compartments (glycogen, nucleoplasm, mitochondria, lipid droplets, and erythrocytes). After correction of the spectra for the instrumental iron contribution, the osmium-to-iron and osmium-to-ruthenium ratios in the glycogen were about 1:3 for tissue treated with those combinations including K2OsVIO4. In the other compartments, the osmium-to-iron and osmium-to-ruthenium ratios were virtually 1:0. For Os-VIIIO4 in combination with potassium ferrouscyanide however the osmium-to-iron ratio was 1:7 in the glycogen and 1:5 in all other compartments. OsVIIIO4 was combined with potassium ruthenium-cyanide, the osmium-to-ruthenium ratio was 1:2 in the glycogen and 2:1 in the other compartments. These results support our view that the selective glycogen contrast is obtained by complex formation.

A Clinico-Pathologic Study of Clear-Cell Hepatocellular Carcinoma

1987 ◽  
Vol 73 (4) ◽  
pp. 389-395 ◽  
Author(s):  
Riccardo A. Audisio ◽  
Luigia Bombelli ◽  
Luciano Lombardi ◽  
Salvatore Andreola
Keyword(s):  
Hepatocellular Carcinoma ◽  
Tumor Cells ◽  
Clinical Features ◽  
Ultrastructural Study ◽  
Lipid Droplets ◽  
Clear Cell ◽  
Clinical Course ◽  
The Other ◽  
Hepatocellular Carcinomas

We reviewed the pathologic and clinical features of 7 cases of clear-cell hepatocellular carcinomas. Tumor cells had a typical clear, empty cytoplasm due to prominent accumulation of glycogen and lipid droplets, as demonstrated by ultrastructural study in one of our cases. Follow-up of the 7 patients did not confirm the better prognosis of this tumor reported by other investigators. The clinical course of our cases was more unfavorable than that of the other 130 cases of usual hepatocellular carcinomas treated at this Institute.

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