Mandibuloacral dysplasia type A in childhood

2009 ◽  
Vol 149A (10) ◽  
pp. 2258-2264 ◽  
Author(s):  
L. Garavelli ◽  
M.R. D'Apice ◽  
F. Rivieri ◽  
M. Bertoli ◽  
A. Wischmeijer ◽  
...  
Keyword(s):  
Type A ◽  
Mandibuloacral Dysplasia

Elbow deformities in a patient with mandibuloacral dysplasia type A

2010 ◽  
Vol 152A (11) ◽  
pp. 2711-2713 ◽  
Author(s):  
Valeria Guglielmi ◽  
Monica D'Adamo ◽  
Maria Rosaria D'Apice ◽  
Alfonso Bellia ◽  
Davide Lauro ◽  
...  
Keyword(s):  
Type A ◽  
Mandibuloacral Dysplasia

scholarly journals Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China

2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Di-Qing Luo ◽  
Xiao-Zhu Wang ◽  
Yan Meng ◽  
Ding-Yang He ◽  
Ying-Ming Chen ◽  
...  
Keyword(s):  
Southern China ◽  
Type A ◽  
Lmna Mutation ◽  
Mandibuloacral Dysplasia

A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A

Gene ◽  
2016 ◽  
Vol 577 (1) ◽  
pp. 8-13 ◽  
Author(s):  
Vahid Reza Yassaee ◽  
Arash Khojaste ◽  
Feyzollah Hashemi-Gorji ◽  
Zeinab Ravesh ◽  
Parviz Toosi
Keyword(s):  
Type A ◽  
Lmna Mutation ◽  
Mandibuloacral Dysplasia

scholarly journals Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype

2007 ◽  
Vol 92 (11) ◽  
pp. 4467-4471 ◽  
Author(s):  
Francesca Lombardi ◽  
Francesca Gullotta ◽  
Marta Columbaro ◽  
Antonio Filareto ◽  
Monica D’Adamo ◽  
...  
Keyword(s):  
Histone H3 ◽  
Type A ◽  
Lamin A ◽  
Tail Domain ◽  
Lmna Gene ◽  
Partial Loss ◽  
Metabolic Complications ◽  
Heterochromatin Protein ◽  
Normal Expression ◽  
Mandibuloacral Dysplasia

Abstract Context: Mandibuloacral dysplasia type A (MADA; OMIM 248370) is a rare progeroid syndrome characterized by dysmorphic craniofacial and skeletal features, lipodystrophy, and metabolic complications. Most Italian patients carry the same homozygous missense mutation (p.R527H) in the C-terminal tail domain of the LMNA gene, which encodes lamin A/C, an intermediate filament component of the nuclear envelope. Objective: The objective of the study was to identify novel LMNA mutations in individuals with clinical characteristics (bird-like facies, mandibular and clavicular hypoplasia, acroosteolysis, lipodystrophy, alopecia) observed in other well-known patients. Design: The LMNA gene was sequenced. Functional properties of the mutant alleles were investigated. Patient: We report a 27-yr-old Italian woman showing a MADA-like phenotype. Features include a hypoplastic mandible, acroosteolysis, pointed nose, partial loss of sc fat, and a progeric appearance. Due to the absence of clavicular dysplasia and normal metabolic profiles, generally associated with muscle hyposthenia and generalized hypotonia, this phenotype can be considered an atypical laminopathy. Results: We identified a patient compound heterozygote for the p.R527H and p.V440M alleles. The patient’s cells showed nuclear shape abnormalities, accumulation of pre-lamin A, and irregular lamina thickness. Lamins A and C showed normal expression and localization. The electron microscopy detected heterochromatin defects with a pattern similar to those observed in other laminopathies. However, chromatin analysis showed a normal distribution pattern of the major heterochromatin proteins: heterochromatin protein-1β and histone H3 methylated at lysine 9. Conclusions: The clinical and cellular features of this patient show overlapping laminopathy phenotypes that could be due to the combination of p.R527H and p.V440M alleles.

Biological and Morphological Studies on Low-Leukemia-Strain Mice with Hodgkin's-Like Neoplasia Induced by Serial Cell-Free Transmission of Leukemic Organs of SJL/J Strain Mice

1968 ◽  
Vol 26 ◽  
pp. 210-211
Author(s):  
S. Fujinaga ◽  
K. Maruyama ◽  
C.W. Williams ◽  
K. Sekhri ◽  
L. Dmochowski
Keyword(s):  
Tissue Culture ◽  
Type A ◽  
Reticulum Cell ◽  
Type B ◽  
Viral Origin ◽  
Serial Transfer ◽  
Strain Mouse ◽  
Morphological Studies ◽  
Cell Neoplasm ◽  
Free Material

Yumoto and Dmochowski (Cancer Res.27, 2098 (1967)) reported the presence of mature and immature type C leukemia virus particles in leukemic organs and tissues such as lymph nodes, spleen, thymus, liver, and kidneys of SJL/J strain mice with Hodgki's-like disease or reticulum cell neoplasm (type B). In an attempt to ascertain the possibility that this neoplasia may be of viral origin, experiments with induction and transmission of this neoplasm were carried out using cell-free extracts of leukemic organs from an SJL/J strain mouse with spontaneous disease.It has been possible to induce the disease in low-leukemia BALB/c and C3HZB strain mice and serially transfer the neoplasia by cell-free extracts of leukemic organs of these mice. Histological examination revealed the neoplasia to be of either reticulum cell-type A or type B. Serial transfer is now in its fifth passage. In addition leukemic spleen from another SJL/J strain mouse with spontaneous reticulum cell neoplasm (type A) was set up in tissue culture and is now in its 141st serial passage in vitro. Preliminary results indicate that cell-free material of 39th tissue culture passage can reproduce neoplasia in BALB/c mice.

Hepatitis A Antigen in Liver, Bile and Stool

1975 ◽  
Vol 33 ◽  
pp. 340-341
Author(s):  
D.R. Jackson ◽  
J.H. Hoofnagle ◽  
A.N. Schulman ◽  
J.L. Dienstag ◽  
R.H. Purcell ◽  
...  
Keyword(s):  
Hepatitis A ◽  
Liver Enzymes ◽  
Hepatitis A Virus ◽  
Type A ◽  
Initial Study ◽  
Virus Like Particle ◽  
Elevated Liver Enzymes ◽  
Ag Particles ◽  
Ag Particle ◽  
Human Stool

Using immune electron microscopy Feinstone et. al. demonstrated the presence of a 27 nm virus-like particle in acute-phase stools of patients with viral hepatitis, type A, These hepatitis A antigen (HA Ag) particles were aggregated by convalescent serum from patients with type A hepatitis but not by pre-infection serum. Subsequently Dienstag et. al. and Maynard et. al. produced acute hepatitis in chimpanzees by inoculation with human stool containing HA Ag. During the early acute disease, virus like particles antigenically, morphologically and biophysically identical to the human HA Ag particle were found in chimpanzee stool. Recently Hilleman et. al. have described similar particles in liver and serum of marmosets infected with hepatitis A virus (HAV). We have investigated liver, bile and stool from chimpanzees and marmosets experimentally infected with HAV. In an initial study, a chimpanzee (no.785) inoculated with HA Ag-containing stool developed elevated liver enzymes 21 days after exposure.

Detection of Viral Antigens in Mouse and Rat Tumor Cells by Immunoelectron Microscopy Following Periodate-Lysine-Paraformaldehyde (PLP) Fixation

1976 ◽  
Vol 34 ◽  
pp. 252-253
Author(s):  
Y. Ohtsuki ◽  
G. Seman ◽  
J. M. Bowen ◽  
M. Scanlon ◽  
L. Dmochowski
Keyword(s):  
Immunoelectron Microscopy ◽  
Mammary Tumor ◽  
Type A ◽  
Rabbit Serum ◽  
Virus Particles ◽  
Viral Antigens ◽  
Culture Cells ◽  
Mouse Mammary Tumor ◽  
Tumor Virus ◽  
Immunoperoxidase Labeling

Recently, periodate-lysine-paraformaldehyde (PLP) fixation was reported for immunoelectron microscopy (1). In PLP fixation, carbohydrates are oxidized by periodate and cross-linked by lysine; paraformaldehyde stabilizes proteins and lipids. By using PLP fixation, intracytoplasmic type A viral antigens have been previously demonstrated by immunoperoxidase labeling (2). In the present study, PLP fixation has been applied for the detection of the same antigens in mouse mammary tumor culture cells by both immunoferritin and immunoperoxidase methods. Rabbit anti-intracytoplasmic type A virus serum (anti-A), kindly provided by Dr. M. Muller (3), rabbit anti-strain A mouse mammary tumor virus (anti-MMTV) and preimmune rabbit serum as control were used to detect viral antigens in cells of C3H/HeJ strain mouse mammary tumor culture. Attempts have been also made to demonstrate peroxidase labeling of type C virus particles in frozen sections of an SD-MSV-induced NZB rat bone tumor tissue by rabbit anti-MuLV serum.

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