ABSTRACT
Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling. Although more than 600 mutations have been identified, most mutations are private. Our objective was to describe the analysis of nine Colombian patients with Fabry disease by automated sequencing of the seven exons of the GLA gene. Two novel mutations were identified in two patients affected with the classical subtype of FD, in addition to other 6 mutations previously reported. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions.
Subject(s)
Fabry Disease/genetics , Mutation , alpha-Galactosidase/genetics , Adult , Base Sequence , Colombia , DNA Mutational Analysis , Female , Genetic Association Studies , Genetic Carrier Screening , Genetic Heterogeneity , Humans , Male , Middle Aged , Molecular Sequence DataABSTRACT
El Granuloma Piógeno (Granuloma Telangiectásico) es un agrandamiento gingival de aspecto tumoral, se caracteriza por ser muy vascularizado, no purulento; puede producirse como respuesta a un trauma menor, su etiología no se relaciona con microorganismos infecciosos. Se localiza en cualquier área de la mucosa bucal, es más común en la encía marginal-vestibular de los dientes anteriores del maxilar. Aportar evidencias clínicas sobre la epidemiología y diagnóstico de ésta patología. Se reporta el caso de un paciente masculino de 48 años de edad, procedente de El Vigía - Estado Mérida, que acude a la Cátedra de Periodoncia (F.O.U.L.A). Al examen clínico presentó una lesión en la encía marginal-vestibular del 21, de forma ovoide, con 5 mm de diámetro, consistencia blanda, textura rugosa, base sésil, color rojizo, crecimiento lento e indoloro, y de 18 meses de evolución. Radiográficamente no se evidenciaron alteraciones en el periodonto de inserción. Se realizó extirpación quirúrgica de la lesión y posterior análisis histopatológico de la muestra. Las características histopatológicas de la muestra confirman la presencia de un Granuloma Piógeno; se reporta un postoperatorio satisfactorio sin recidiva. La literatura señala que esta lesión es común en niños y mujeres embarazadas, sin embargo, el caso reportado se trata de un paciente masculino de 48 años, por lo tanto se puede decir que, el Granuloma Piógeno puede estar presente en personas de cualquier edad y genero, razón por la cual se deben conocer las características clínicas de ésta lesión y los diagnósticos diferenciales de la misma
Pyogenic Granuloma (Telangiecticum Granuloma) is an gingival tumour was characterised by highly vascularized, this is not purulent, may occur in response to minor trauma, its etiology is not related to infective microorganisms. Pyogenic Granuloma could be localised in any area of the oral mucosa is more common in the marginal gingiva, buccal maxillary anterior teeth. To provide clinical evidence on the epidemiology and diagnosis of this condition. We report a case of a male patient age 48, from El Vigia - Mérida State, attending the Department of Periodontics (Foula). At clinical examination he presented a lesion in the marginal gingiva of 21, an ovoid form, with 5 mm in diameter, soft, rough texture, sessile base, reddish, slow growth, painless and 18 months of evolution. Radiographically, showed not alterations in the periodontium of insertion. We performed surgical excision of the lesion and subsequent histological analysis of the sample. The histopathological characteristics of the sample confirmed the presence of a Pyogenic Granuloma; we report a satisfactory postoperative without recurrence. The literature suggests that this injury is common in children and pregnant women, however, the reported case was a male patient of 48 years, therefore we can say that Pyogenic Granuloma can occur in people of any age and sex, For these reason is very important that the dentist knows about clinical characteristics the differential diagnosis of this lesión
Subject(s)
Humans , Male , Middle Aged , Granuloma, Pyogenic/diagnosis , Gingival Neoplasms/surgery , Gingival Neoplasms/diagnosis , Odontogenic Tumors , Dentistry , NeoplasmsABSTRACT
Inversions are infrequent events in hematological malignancies. We here report the cytogenetic, fluorescence in situ hybridization (FISH), and molecular studies of 2 patients diagnosed with mantle cell lymphoma (MCL) that showed inversions of chromosomes 2 and 6 as part of complex karyotypes. Both patients showed a cytogenetically identical inv(6)(p23q11) detected as a secondary aberration. In addition, both patients had a derivative chromosome 2 which originated by partial deletion of the short arm and a pericentric inversion with different breakpoints on the long arm: der(2)del(2)(p21)inv(2)(p21q11) and der(2)del(2)(p21)inv(2)(p21q13), respectively. The presence of t(11;14)(q13;q32) was confirmed by interphase FISH and by molecular study. Residual normal cells were found in both cases. The patients showed a different clinical evolution with a poor outcome for one case and a favorable course of the disease for the other one. The review of the literature in MCL showed a total of 9 inversions affecting different chromosomes. Considering that inversions are very infrequent events in MCL, our findings could be important for detecting genes potentially involved in development and/or progression of this aggressive non-Hodgkin lymphoma subtype.
Subject(s)
Chromosome Inversion , Chromosomes, Human, Pair 2 , Chromosomes, Human, Pair 6 , Lymphoma, Mantle-Cell/genetics , Adult , Aged , Aged, 80 and over , Chromosomes, Human, Pair 2/ultrastructure , Chromosomes, Human, Pair 6/ultrastructure , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Lymphoma, Mantle-Cell/diagnosis , Male , Polymerase Chain ReactionABSTRACT
We report the clinical, cytogenetic, fluorescence in situ hybridization (FISH) and molecular findings in a 54-yr-old male patient diagnosed with B-cell chronic lymphocytic leukemia (B-CLL), who showed progression to a diffuse large B-cell lymphoma (Richter's syndrome). Genetic studies were performed at diagnosis and during the Richter's transformation (RT). A clonal karyotype with two dicentric chromosomes, psu dic(12,21)(q24;q10) and dic(17,18)(p11.2;p11.2), was found. Both rearrangements were confirmed by FISH. Molecular cytogenetics analysis using p53 probe showed monoallelic loss of this tumor suppressor gene in 43.8% and 77.3% of cells for the first and the second studies, respectively). In both studies, deletions of D13S319 (18% and 12% of cells) and D13S25 loci (13% and 12% of cells) at 13q14 were found. Polymerase chain reaction analysis showed the MBR/JH rearrangement of the bcl-2 gene. FISH studies using LSI bcl-2/IgH probe allowed quantifying the clonal cell population with this rearrangement (4% and 6.6% of cells at diagnosis and RT, respectively). To our knowledge, this is the first case with a psu dic(12,21) described in B-CLL. The low percentage of cells with the 13q14 deletion and bcl-2/IgH rearrangement suggests that they were secondary events that resulted from clonal evolution. Our patient had a short survival (9 months) and a clear lack of response to several therapeutic agents, confirming the association of p53 gene deletion and karyotypic evolution with disease progression.
Subject(s)
Cytogenetic Analysis/methods , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Disease Progression , Gene Deletion , Gene Rearrangement , Genes, p53 , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Leukemia, Lymphocytic, Chronic, B-Cell/pathology , Male , Middle Aged , Polymerase Chain ReactionABSTRACT
UNLABELLED: Some prognostic factors are useful in chronic lymphocytic leukemia (CLL): lymphocyte doubling time, clinical stage and bone marrow pattern infiltration, while others, such as the percentage of CD38+ cells, are under study and require confirmation. The objective of this study was to evaluate whether there is an association between morphology, lymphocyte immunophenotype, soluble CD23 (sCD23) and progression free survival (PFS). A total of 36 non-treated patients were enrolled. We analysed prospectively: morphology (typical, mixed and PL-CLL); immunophenotypic profile (Matutes score); sCD23 plasma levels; clinical stage; lymphocyte doubling time; beta 2 microglobulin and karyotype abnormalities. Disease progression (need of treatment, progression to advanced stages, development of bulky organomegaly) and death related to disease were considered as events. Md of follow-up 24 mo. RESULTS: Stage 0: 11/36, PFS 80%; I: 10/36 PFS 90%; II: 13/36; III and IV: 2/36. SLE > or = II PFS 37%. p = 0.023. Lymphocyte doubling time < 12mo. 7/31; > 12mo. 24/31. PFS 28% vs. 80% p < 0.001. Karyotype: normal 13/28, abnormal 15/28. PFS 92% vs. 54% p = 0.053. Trisomy 12: positive 7/30, negative 23/30, PFS 66% vs. 65%. beta 2 microglobulin: normal 9/35; high 26/35. PFS 100% vs. 53% p = 0.006. sCD23 < 350 Ul/ml: 15/32; > 350 Ul/ml: 17/32. PFS 92% vs. 53% p = 0.005. Immunophenotype: Score 5: 15/36, Score 4: 19/36, PFS 64%. Score 3: 2/36. p = 0.516. Morphology: typical 17/35, mixed 17/35, PFS 81% vs. 57%, p = 0.099. PL-CLL 1/35. CONCLUSIONS: sCD23 was suitable to predict PFS, specially useful for early stages without additional markers of active disease. Morphology (excluding PL-CLL) and immunophenotype, two common tools, were not useful for the study purpose.
Subject(s)
Immunophenotyping , Leukemia, Lymphocytic, Chronic, B-Cell/immunology , Receptors, IgE/blood , Adult , Aged , Aged, 80 and over , Disease Progression , Female , Humans , Immunity, Cellular , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/pathology , Male , Middle Aged , Predictive Value of Tests , Prognosis , Prospective StudiesABSTRACT
Some prognostic factors are useful in chronic lymphocytic leukemia (CLL): lymphocyte doubling time, clinical stage and bone marrow pattern infiltration, while others, such as the percentage of CD38+ cells, are under study and require confirmation. The objective of this study was to evaluate whether there is an association between morphology, lymphocyte immunophenotype, soluble CD23 (sCD23) and progression free survival (PFS). A total of 36 non-treated patients were enrolled. We analysed prospectively: morphology (typical, mixed and PL-CLL); immunophenotypic profile (Matutes score); sCD23 plasma levels; clinical stage; lymphocyte doubling time; beta 2 microglobulin and karyotype abnormalities. Disease progression (need of treatment, progression to advanced stages, development of bulky organomegaly) and death related to disease were considered as events. Md of follow-up 24 mo. RESULTS: Stage 0: 11/36, PFS 80%; I: 10/36 PFS 90%; II: 13/36; III and IV: 2/36. SLE > or = II PFS 37%. p = 0.023. Lymphocyte doubling time < 12mo. 7/31; > 12mo. 24/31. PFS 28% vs. 80% p < 0.001. Karyotype: normal 13/28, abnormal 15/28. PFS 92% vs. 54% p = 0.053. Trisomy 12: positive 7/30, negative 23/30, PFS 66% vs. 65%. beta 2 microglobulin: normal 9/35; high 26/35. PFS 100% vs. 53% p = 0.006. sCD23 < 350 Ul/ml: 15/32; > 350 Ul/ml: 17/32. PFS 92% vs. 53% p = 0.005. Immunophenotype: Score 5: 15/36, Score 4: 19/36, PFS 64%. Score 3: 2/36. p = 0.516. Morphology: typical 17/35, mixed 17/35, PFS 81% vs. 57%, p = 0.099. PL-CLL 1/35. CONCLUSIONS: sCD23 was suitable to predict PFS, specially useful for early stages without additional markers of active disease. Morphology (excluding PL-CLL) and immunophenotype, two common tools, were not useful for the study purpose
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Immunophenotyping , Leukemia, Lymphocytic, Chronic, B-Cell , Receptors, IgE , Aged, 80 and over , Disease Progression , Leukemia, Lymphocytic, Chronic, B-Cell , Predictive Value of Tests , Prognosis , Prospective StudiesABSTRACT
Some prognostic factors are useful in chronic lymphocytic leukemia (CLL): lymphocyte doubling time, clinical stage and bone marrow pattern infiltration, while others, such as the percentage of CD38+ cells, are under study and require confirmation. The objective of this study was to evaluate whether there is an association between morphology, lymphocyte immunophenotype, soluble CD23 (sCD23) and progression free survival (PFS). A total of 36 non-treated patients were enrolled. We analysed prospectively: morphology (typical, mixed and PL-CLL); immunophenotypic profile (Matutes score); sCD23 plasma levels; clinical stage; lymphocyte doubling time; beta 2 microglobulin and karyotype abnormalities. Disease progression (need of treatment, progression to advanced stages, development of bulky organomegaly) and death related to disease were considered as events. Md of follow-up 24 mo. RESULTS: Stage 0: 11/36, PFS 80%; I: 10/36 PFS 90%; II: 13/36; III and IV: 2/36. SLE > or = II PFS 37%. p = 0.023. Lymphocyte doubling time < 12mo. 7/31; > 12mo. 24/31. PFS 28% vs. 80% p < 0.001. Karyotype: normal 13/28, abnormal 15/28. PFS 92% vs. 54% p = 0.053. Trisomy 12: positive 7/30, negative 23/30, PFS 66% vs. 65%. beta 2 microglobulin: normal 9/35; high 26/35. PFS 100% vs. 53% p = 0.006. sCD23 < 350 Ul/ml: 15/32; > 350 Ul/ml: 17/32. PFS 92% vs. 53% p = 0.005. Immunophenotype: Score 5: 15/36, Score 4: 19/36, PFS 64%. Score 3: 2/36. p = 0.516. Morphology: typical 17/35, mixed 17/35, PFS 81% vs. 57%, p = 0.099. PL-CLL 1/35. CONCLUSIONS: sCD23 was suitable to predict PFS, specially useful for early stages without additional markers of active disease. Morphology (excluding PL-CLL) and immunophenotype, two common tools, were not useful for the study purpose (AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Leukemia, Lymphocytic, Chronic, B-Cell/immunology , Immunophenotyping , Receptors, IgE/blood , Leukemia, Lymphocytic, Chronic, B-Cell/pathology , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Prognosis , Predictive Value of Tests , Prospective Studies , Aged, 80 and over , Disease ProgressionABSTRACT
Some prognostic factors are useful in chronic lymphocytic leukemia (CLL): lymphocyte doubling time, clinical stage and bone marrow pattern infiltration, while others, such as the percentage of CD38+ cells, are under study and require confirmation. The objective of this study was to evaluate whether there is an association between morphology, lymphocyte immunophenotype, soluble CD23 (sCD23) and progression free survival (PFS). A total of 36 non-treated patients were enrolled. We analysed prospectively: morphology (typical, mixed and PL-CLL); immunophenotypic profile (Matutes score); sCD23 plasma levels; clinical stage; lymphocyte doubling time; beta 2 microglobulin and karyotype abnormalities. Disease progression (need of treatment, progression to advanced stages, development of bulky organomegaly) and death related to disease were considered as events. Md of follow-up 24 mo. RESULTS: Stage 0: 11/36, PFS 80
; I: 10/36 PFS 90
; II: 13/36; III and IV: 2/36. SLE > or = II PFS 37
. p = 0.023. Lymphocyte doubling time < 12mo. 7/31; > 12mo. 24/31. PFS 28
vs. 80
p < 0.001. Karyotype: normal 13/28, abnormal 15/28. PFS 92
vs. 54
p = 0.053. Trisomy 12: positive 7/30, negative 23/30, PFS 66
vs. 65
. beta 2 microglobulin: normal 9/35; high 26/35. PFS 100
vs. 53
p = 0.006. sCD23 < 350 Ul/ml: 15/32; > 350 Ul/ml: 17/32. PFS 92
vs. 53
p = 0.005. Immunophenotype: Score 5: 15/36, Score 4: 19/36, PFS 64
. Score 3: 2/36. p = 0.516. Morphology: typical 17/35, mixed 17/35, PFS 81
vs. 57
, p = 0.099. PL-CLL 1/35. CONCLUSIONS: sCD23 was suitable to predict PFS, specially useful for early stages without additional markers of active disease. Morphology (excluding PL-CLL) and immunophenotype, two common tools, were not useful for the study purpose.
ABSTRACT
El virus de la inmunodeficiencia humana (HIV) es un retrovirus, que exhibe tropismo selectivo por células del sistema inmunológico. Tiene acceso al interior celular mediante la molécula CD4, presente fundamentalmente sobre los linfocitos T colaboradores. La unión se da por interacción entre el CD4 y una glicoproteína de la cápside viral, la gp120. La infección de la célula es irreversible, ya que el material genético viral se incorpora, en forma de provirus, el genoma de la célula huésped, donde puede permanecer en estado latente durante un período de tiempo que varía entre unos meses y varios años. La activación del provirus se da en forma conjunta con la activación celular, lleva a la producción elevada de partículas virales. El hecho más significativo es la disminución de células T CD4+ atribuido, al menos en parte, al efecto citopático del virus. De la población total de linfocitos CD4+, solo un pequeño número es susceptible de infección viral, lo cual dificulta la interpretación de su marcada disminución. Teniendo en cuenta que el blanco preferido del virus es una célula central dentro del sistema inmune, puede comprenderse la amplia gama de alteraciones inmunológicas, que presentan los individuos infectados, que lleva a la severa inmunodeficiencia observada en los pacientes con SIDA
Subject(s)
CD4-Positive T-Lymphocytes/pathology , Cell Transformation, Viral , HIV/pathogenicity , Acquired Immunodeficiency Syndrome/physiopathology , T-Lymphocytes/pathology , B-Lymphocytes/immunology , B-Lymphocytes/pathology , CD4-Positive T-Lymphocytes/immunology , CD4-Positive T-Lymphocytes/metabolism , Killer Cells, Natural/immunology , Killer Cells, Natural/pathology , HIV Antibodies/immunology , HIV/genetics , HIV/metabolism , Monocytes/immunology , Monocytes/pathology , Acquired Immunodeficiency Syndrome/genetics , Acquired Immunodeficiency Syndrome/immunologyABSTRACT
El virus de la inmunodeficiencia humana (HIV) es un retrovirus, que exhibe tropismo selectivo por células del sistema inmunológico. Tiene acceso al interior celular mediante la molécula CD4, presente fundamentalmente sobre los linfocitos T colaboradores. La unión se da por interacción entre el CD4 y una glicoproteína de la cápside viral, la gp120. La infección de la célula es irreversible, ya que el material genético viral se incorpora, en forma de provirus, el genoma de la célula huésped, donde puede permanecer en estado latente durante un período de tiempo que varía entre unos meses y varios años. La activación del provirus se da en forma conjunta con la activación celular, lleva a la producción elevada de partículas virales. El hecho más significativo es la disminución de células T CD4+ atribuido, al menos en parte, al efecto citopático del virus. De la población total de linfocitos CD4+, solo un pequeño número es susceptible de infección viral, lo cual dificulta la interpretación de su marcada disminución. Teniendo en cuenta que el blanco preferido del virus es una célula central dentro del sistema inmune, puede comprenderse la amplia gama de alteraciones inmunológicas, que presentan los individuos infectados, que lleva a la severa inmunodeficiencia observada en los pacientes con SIDA
