Severe Acute Subdural Hemorrhages in a Patient with Glutaric Acidemia Type 1 under Recommended Treatment

2016 ◽  
Vol 52 (1) ◽  
pp. 46-50
Author(s):  
Mika Ishige ◽  
Tatsuo Fuchigami ◽  
Erika Ogawa ◽  
Hiromi Usui ◽  
Ryutaro Kohira ◽  
...  
Keyword(s):  
Recommended Treatment ◽  
Subdural Hemorrhages

Maintenance Efficacy of Low Dose Imiglucerase for Gaucher Disease

2020 ◽  
Author(s):  
Zhengqing Qiu ◽  
Baohui Zhang ◽  
Yuhang Song ◽  
Hongbing Zhang ◽  
Yuting Wu
Keyword(s):  
Gaucher Disease ◽  
Low Dose ◽  
Standard Dose ◽  
Mineral Density ◽  
Recommended Treatment ◽  
Type 3 ◽  
Term Maintenance

Abstract Background Imiglucerase is the recommended treatment for Gaucher disease (GD), a hereditary metabolic disease. In high risk adults and all children, the minimum recommended dose for long-term maintenance is 30 U/kg/2 weeks. However, the extremely high cost of this enzyme largely hinders its clinical use. The minimal maintenance dose of imiglucerase has thus been a subject of debate. We aimed to analyze the long-term maintenance outcomes of imiglucerase at dosage < 20 U/kg/2 weeks after standard dose. Methods Seventeen patients with GD type 1 or GD type 3 were enrolled for analysis. We evaluated maintenance efficacy of imiglucerase on hemoglobin, platelet, visceral volumes and bone conditions during the 7-year follow-up. Results Parameters on hemoglobin, platelet, liver, and spleen volumes of all patients were stabilized or improved. Seven out of 14 patients showed bone mineral density improvement. Three out of 16 patients showed worse bone pain; 6 out of 15 patients showed worse Erlenmeyer flask; 6 out of 15 patients showed worse bone infarction; 1 out of 16 patients showed worse marrow infiltration and 3 out of 15 patients showed worse osteonecrosis. Conclusions Imiglucerase less than 20 U/kg/2 weeks is enough to maintain blood and visceral parameters, but is not sufficient to stabilize skeletal conditions.

Autoimmune Hepatitis

2015 ◽  
Author(s):  
Jennifer Y Chen ◽  
Karin L. Andersson
Keyword(s):  
Autoimmune Hepatitis ◽  
Scoring System ◽  
Elevated Serum ◽  
Smooth Muscle Antibody ◽  
Treatment Regimens ◽  
Recommended Treatment ◽  
Serum Transaminases ◽  
Disease Subtypes

Autoimmune hepatitis (AIH) is defined by elevated serum transaminases along with the presence of one or more characteristic serum autoantibodies, including antinuclear antibody (ANA), anti–smooth muscle antibody (ASMA), and anti–liver-kidney microsomal type 1 antibody (anti-LKM-1); elevated levels of serum immunoglobulin G (IgG); interface hepatitis on histology; and responsiveness to immunosuppressive therapy. AIH has been classified into two disease subtypes based on serologic markers: type 1, which is characterized by the presence of either ANA or ASMA, and type 2, which is characterized by the presence of either anti-LKM-1 or anti–liver-cytosol antibody type 1 (anti-LC-1). This review addresses the epidemiology, natural history, pathogenesis, and management of AIH, as well as ongoing challenges. Several recent advances are highlighted, including the creation of a simplified diagnostic scoring system and the use of budesonide for AIH treatment. Figures show the pathology of AIH, treatment approach of moderate to severe AIH with combination therapy, azathioprine metabolism, and management of treatment outcomes. Tables list a comparison of type 1 and type 2 AIH, antibodies in AIH, the revised diagnostic scoring system (including a simplified version), indications for treatment in AIH, recommended treatment regimens for AIH by the American Association for the Study of Liver Diseases, and adverse effects associated with therapy for AIH. This review contains 4 highly rendered figures, 7 tables, and 146 references.

scholarly journals Practical aspects of therapy for glutaric aciduria type 1

2021 ◽  
Vol 11 (4) ◽  
pp. 12-25
Author(s):  
E. Yu. Zakharova ◽  
S. V. Mikhailova ◽  
V. V. Zarubina ◽  
N. A. Krasnoshchekova ◽  
N. L. Pechatnikova ◽  
...  
Keyword(s):  
Age Groups ◽  
Glutaric Aciduria Type ◽  
Dietary Therapy ◽  
Metabolic Decompensation ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Practical Algorithms ◽  
Recommended Treatment ◽  
Symptomatic Management

Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in the amino acid metabolic pathways. The decreased activity of the enzyme leads to accumulation of neuro‑ toxic metabolites. The recommended treatment approaches for GA1 are the prescription of specialized nutrition products, levocarnitine, and symptomatic management. In 2021, clinical guidelines for the treatment of this rear disease were published in Russian Federation. To provide for the timely treatment, it is essential for a practitioner involved in the care patients with such a rare disorder as GA1 to have the knowledge of the principles of management, as well as practical algorithms for diet calculation.The article gives a detailed case‑based description of management during metabolic decompensation and the choice of dietary therapy for GA1 patients of different age groups.

scholarly journals Health-related quality of life in a cohort of youths with type 1 diabetes

2018 ◽  
Vol 64 (11) ◽  
pp. 1038-1044 ◽  
Author(s):  
Karina Andressa Khater Fontes Martins ◽  
Luis Paulo Gomes Mascarenhas ◽  
Melina Morandini ◽  
Monica Nunes Lima Cat ◽  
Rosana Marques Pereira ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Type 1 Diabetes ◽  
Low Income ◽  
Health Related Quality ◽  
Recommended Treatment ◽  
Related Quality ◽  
Health Related ◽  
Intermediate Acting Insulin

SUMMARY Health-related quality of life (HRQOL) in type 1 diabetes mellitus (T1DM) has been widely studied. The objectives of this study were to evaluate and identify the factors influencing the HRQOL of children and adolescents with T1DM. MATERIAL AND METHODS: In total, 59 patients (9–16 years, T1DM for ≥1 year) responded to a version of the Diabetes Quality of Life Instrument for Youth (DQOLY) adapted to adapted to Brazilian patients, the Instrumento de Qualidade de Vida para Jovens com Diabetes (IQVJD). This instrument comprises 50 items (domains satisfaction, impact, and concerns, with the lowest scores corresponding to better HRQOL) and a questionnaire gathering social, demographic, and clinical parameters. RESULTS: The mean age of the patients was 13.6 years, and 57.6% were girls. The median age at diagnosis was 7.16 years, 63% presented diabetic ketoacidosis (DKA) at diagnosis and 29% during follow-up. Mean glycated hemoglobin (HbA1c) in the previous year was 10%. All patients administered multiple insulin doses (mean 4.2 applications/day), 74.5% used rapid-acting and intermediate-acting insulin analogs, and 67.8% used pens for insulin application. The results of the DQOLY were within the cutoff limit for better HRQOL. An isolated analysis of each domain and the questionnaire results showed that the following factors were associated with better HRQOL: height Z-score, lower HbA1c, practice of physical activity, use of pen, fewer hospitalizations, and residence in a rural area. There was a high DKA rate at diagnosis, and the metabolic control was inappropriate in most patients. Despite coming from low-income households, most patients had access to the recommended treatment. CONCLUSION: Among T1DM patients, 71% had IQVJD scores compatible with better HRQOL.

Crystalloid Inclusions in Hepatocyte Mitochondria and Their Similarity to Cytoplasmic Crystalloids

1974 ◽  
Vol 32 ◽  
pp. 198-199
Author(s):  
Odell T. Minick ◽  
Hidejiro Yokoo
Keyword(s):  
Liver Disease ◽  
Alcoholic Liver Disease ◽  
Special Interest ◽  
Structural Variations ◽  
Mitochondrial Alterations ◽  
The Matrix ◽  
Crystalloid Inclusions ◽  
Liver Biopsies

Mitochondrial alterations were studied in 25 liver biopsies from patients with alcoholic liver disease. Of special interest were the morphologic resemblance of certain fine structural variations in mitochondria and crystalloid inclusions. Four types of alterations within mitochondria were found that seemed to relate to cytoplasmic crystalloids.Type 1 alteration consisted of localized groups of cristae, usually oriented in the long direction of the organelle (Fig. 1A). In this plane they appeared serrated at the periphery with blind endings in the matrix. Other sections revealed a system of equally-spaced diagonal lines lengthwise in the mitochondrion with cristae protruding from both ends (Fig. 1B). Profiles of this inclusion were not unlike tangential cuts of a crystalloid structure frequently seen in enlarged mitochondria described below.

Evidence for a shear mechanism for the precipitation of γ-zirconium hydride in zirconium

1978 ◽  
Vol 36 (1) ◽  
pp. 658-659
Author(s):  
G.J.C. Carpenter
Keyword(s):  
Elevated Temperature ◽  
Strain Field ◽  
Zirconium Hydride ◽  
Zirconium Atom ◽  
Atom Diffusion ◽  
Solvus Temperature ◽  
Hexagonal Close Packed ◽  
Partial Dislocations ◽  
The Face

In zirconium-hydrogen alloys, rapid cooling from an elevated temperature causes precipitation of the face-centred tetragonal (fct) phase, γZrH, in the form of needles, parallel to the close-packed <1120>zr directions (1). With low hydrogen concentrations, the hydride solvus is sufficiently low that zirconium atom diffusion cannot occur. For example, with 6 μg/g hydrogen, the solvus temperature is approximately 370 K (2), at which only the hydrogen diffuses readily. Shears are therefore necessary to produce the crystallographic transformation from hexagonal close-packed (hep) zirconium to fct hydride.The simplest mechanism for the transformation is the passage of Shockley partial dislocations having Burgers vectors (b) of the type 1/3<0110> on every second (0001)Zr plane. If the partial dislocations are in the form of loops with the same b, the crosssection of a hydride precipitate will be as shown in fig.1. A consequence of this type of transformation is that a cumulative shear, S, is produced that leads to a strain field in the surrounding zirconium matrix, as illustrated in fig.2a.

Direct structure images of 30° partial dislocation cores in silicon

1987 ◽  
Vol 45 ◽  
pp. 242-243
Author(s):  
J. C. Barry ◽  
H. Alexander
Keyword(s):  
Dislocation Core ◽  
Preparation Technique ◽  
Burgers Vector ◽  
Vector Type ◽  
Sample Preparation Technique ◽  
Lattice Images ◽  
Dislocation Core Structure ◽  
Type Lattice ◽  
Direct Inspection

Dislocations in silicon produced by plastic deformation are generally dissociated into partials. 60° dislocations (Burgers vector type 1/2[101]) are dissociated into 30°(Burgers vector type 1/6[211]) and 90°(Burgers vector type 1/6[112]) dislocations. The 30° partials may be either of “glide” or “shuffle” type. Lattice images of the 30° dislocation have been obtained with a JEM 100B, and with a JEM 200Cx. In the aforementioned experiments a reasonable but imperfect match was obtained with calculated images for the “glide” model. In the present experiment direct structure images of 30° dislocation cores have been obtained with a JEOL 4000EX. It is possible to deduce the 30° dislocation core structure by direct inspection of the images. Dislocations were produced by compression of single crystal Si (sample preparation technique described in Alexander et al.).

Electron Microscopic investigation of crooke’s change in the pituitaries of patients with hypercorticism

1989 ◽  
Vol 47 ◽  
pp. 848-849
Author(s):  
E. Horvath ◽  
K. Kovacs ◽  
L. Stefaneanu ◽  
N. Losinski
Keyword(s):  
Nucleolar Organizer ◽  
Microscopic Investigation ◽  
Electron Microscopic Investigation ◽  
Ectopic Acth Syndrome ◽  
Nucleolar Organizer Regions ◽  
Electron Microscopic ◽  
Human Pituitary ◽  
Ectopic Acth ◽  
Crooke’S Hyalinization

Human pituitary corticotropins have unique morphologic markers: bundles of type-1 filaments, measuring approximately 70 A in width and representing cytokeratin. The extreme ring-like accumulation of type-1 filaments, known as Crooke's hyalinization, signals functional suppression of the corticotropins and occurs in endogenous and exogenous glucocorticoid excess, caused by ACTH-secreting pituitary adenoma, glucocorticoid secreting adrenocortical tumor, ectopic ACTH-syndrome and administration of pharmacologic doses of glucocorticoids. Cells of autonomous corticotroph adenomas usually do not show Crooke's hyalin change. A minority of these tumors, however, retains sensitivity to the negative feed-back effect of elevated blood glucocorticoid levels and display typical Crooke’s change.In the present study pituitary corticotropins in various phases of Crooke's hyalinization were investigated in patients with glucocorticoid excess of various origin, applying histology, immunocytochemistry, count of argyrophilic nucleolar organizer regions (AgNOR), and transmission electron microscopy.

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