Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 32
Filter
2.
Eur Ann Allergy Clin Immunol ; 50(4): 156-162, 2018 07.
Article in English | MEDLINE | ID: mdl-29542889

ABSTRACT

Summary: Background. Follow-up data about the onset of novel food allergies in patients allergic to lipid transfer protein (LTP) are missing. We investigated the occurrence of novel allergies over time in LTP hypersensitive patients. Methods. Sixty-seven LTP-allergic patients recommended to avoid foods responsible for systemic reactions and encouraged to eat other sensitizing foods avoiding the association with known co-factors, were re-evaluated after ≥ 1 year to assess the occurrence of allergy to novel foods. IgE to rPru p 3, rBet v 1, and r Phl p 12 were measured. Results. At baseline, the most frequent offending foods were Rosaceae / Prunoideae, tree nuts, and peanut. Most patients reacted to > 1 food, and 77% experienced systemic allergic reactions. Those monosensitized to LTP showed a higher prevalence of food-induced systemic reactions than patients co-sensitized to profilin and/or PR-10 (p < 0.01). Baseline Pru p 3 IgE levels did not differ between patients with local symptoms or systemic symptoms. 1-16 years after the baseline evaluation 18/67 (27%) patients had experienced new food allergies; 8 and 10 reported local or systemic symptoms following the ingestion of previously tolerated foods. Again, most new allergies were caused by Rosaceae / Prunoideae, tree nuts, and peanut. The clinical evolution did not depend on baseline total IgE, co-sensitization to PR-10 and/or profilin, or Pru p 3 IgE levels. Conclusions.Rosaceae / Prunoideae, nuts and peanut are the most frequent cause of new food allergies in the long term. Their exclusion from patient's diets at baseline should be considered on an individual basis.


Subject(s)
Carrier Proteins/immunology , Food Hypersensitivity/diagnosis , Immunoglobulin E/blood , Nut Hypersensitivity/diagnosis , Peanut Hypersensitivity/diagnosis , Adolescent , Adult , Antigens, Plant/immunology , Arachis/immunology , Child , Female , Humans , Immunoglobulin E/immunology , Male , Middle Aged , Nuts/immunology , Rosaceae/immunology , Young Adult
3.
Clin Exp Allergy ; 48(1): 6-12, 2018 01.
Article in English | MEDLINE | ID: mdl-29105202

ABSTRACT

Despite a huge number of studies, many aspects of the lipid transfer protein (LTP) syndrome, the most frequent primary food allergy in Mediterranean countries, remain unclear. Its peculiar geographical distribution, along with the extreme variability of its clinical expression, makes this type of food allergy something unique in the panorama of IgE-mediated food-induced allergic reactions. This review article tried to summarize the current knowledge about the most important aspects of LTP sensitization and allergy, along with the importance of positive and negative co-factors in the clinical expression of the syndrome as well as the issues regarding the cross-reactivity between LTPs present in botanically related and unrelated foods. Further, the possible absence of the protein from some plant foods is discussed.


Subject(s)
Carrier Proteins , Food Hypersensitivity , Plant Proteins, Dietary , Carrier Proteins/immunology , Carrier Proteins/toxicity , Cross Reactions , Food Hypersensitivity/epidemiology , Food Hypersensitivity/immunology , Food Hypersensitivity/pathology , Humans , Immunoglobulin E/immunology , Plant Proteins, Dietary/immunology , Plant Proteins, Dietary/toxicity
5.
Article in English | MEDLINE | ID: mdl-26182684

ABSTRACT

UNLABELLED: Background: The role of allergens in the severity of tomato allergy symptoms has not yet been studied. OBJECTIVES: To evaluate the relationship between severe allergic reactions to peach and tomato and between tomato allergy symptoms and the pattern of IgE positivity for rPru p 1, rPru p 3, rPru p 4, rBetv 1, rBetv 2, rBetv4, rPhl p 1, and rPhl p 12 in order to identify the role of recombinant allergens in the severity of reactions to tomato. METHODS: We studied peach-allergic patients with clinical reactions to tomato by performing an open food challenge, skin prick test, and determination of serum specific IgE to tomato and to recombinant peach, birch, and grass allergens. Statistical analysis was carried out to evaluate the relationship between the severity of tomato symptoms and IgE positivity to the different allergens and to peach-induced symptoms. RESULTS: We found a significant association between severe reactions to tomato and severe reactions to peach (P = .01 7) and levels of IgE to rPru p3 (P = .029) and between mild tomato allergy symptoms and levels of IgE to rPru p1 (P = .047), anti-rBetv 1 (P = .0414), anti-rBetv 2 (P = .0457), and Phleum pratense (P = .0022). CONCLUSION: We observed a significant relationship between peach and symptoms of tomato allergy. IgE positivity for rPru p3 seems to be a surrogate biochemical marker for severe tomato allergy, whereas the presence of anti-rPru p 1 IgE may be an indicator of mild tomato allergy.


Subject(s)
Antigens, Plant/immunology , Food Hypersensitivity/diagnosis , Plant Proteins/immunology , Prunus/adverse effects , Solanum lycopersicum/adverse effects , Adolescent , Adult , Aged , Biomarkers/blood , Female , Food Hypersensitivity/blood , Food Hypersensitivity/immunology , Fruit , Humans , Immunoglobulin E/blood , Intradermal Tests , Italy , Solanum lycopersicum/immunology , Male , Middle Aged , Predictive Value of Tests , Prunus/immunology , Recombinant Proteins/immunology , Serologic Tests , Severity of Illness Index , Young Adult
6.
Psychol Med ; 45(15): 3147-57, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26062741

ABSTRACT

BACKGROUND: Neurocognitive and social cognitive impairments represent important treatment targets in schizophrenia, as they are significant predictors of functional outcome. Different rehabilitative interventions have recently been developed, addressing both cognitive and psychosocial domains. Although promising, results are still heterogeneous and predictors of treatment outcome are not yet identified. In this study we evaluated the efficacy of two newly developed social cognitive interventions, respectively based on the use of videotaped material and comic strips, combined with domain-specific Cognitive Remediation Therapy (CRT). We also analysed possible predictors of training outcome, including basal neurocognitive performance, the degree of cognitive improvement after CRT and psychopathological variables. METHOD: Seventy-five patients with schizophrenia treated with CRT, were randomly assigned to: social cognitive training (SCT) group, Theory of Mind Intervention (ToMI) group, and active control group (ACG). RESULTS: ANOVAs showed that SCT and ToMI groups improved significantly in ToM measures, whereas the ACG did not. We reported no influences of neuropsychological measures and improvement after CRT on changes in ToM. Both paranoid and non-paranoid subjects improved significantly after ToMI and SCT, without differences between groups, despite the better performance in basal ToM found among paranoid patients. In the ACG only non-paranoid patients showed an improvement in non-verbal ToM. CONCLUSION: Results showed that both ToMI and SCT are effective in improving ToM in schizophrenia with no influence of neuropsychological domains. Our data also suggest that paranoid symptoms may discriminate between different types of ToM difficulties in schizophrenia.


Subject(s)
Cognitive Behavioral Therapy/methods , Outcome Assessment, Health Care , Schizophrenia/physiopathology , Schizophrenia/rehabilitation , Social Perception , Theory of Mind/physiology , Adult , Female , Humans , Male , Middle Aged , Schizophrenic Psychology
7.
Eur Psychiatry ; 30(5): 615-21, 2015 Jul.
Article in English | MEDLINE | ID: mdl-25758155

ABSTRACT

BACKGROUND: A Metacognitive Training for Schizophrenia patients (MCT) was developed to target the cognitive biases that characterize the illness. Results suggest positive MCT effects encompassing several aspects of psychopathology and subjective well-being. There are still open questions concerning the effect on different cognitive biases and the interplay between them and both psychopathology and neurocognition. Specifically, the bias against disconfirmatory evidence (BADE) has never been tested in previous trials on MCT. In this study we evaluated the feasibility of MCT combined with a cognitive remediation therapy (CACR) in schizophrenia and its effect on BADE. Moreover, we investigated the relationships between BADE and both neuropsychology and psychopathology, taking into account mutual influences on the degree of improvement. METHODS: Fifty-seven schizophrenia outpatients were randomly assigned to CACR + control group or MCT+CACR and assessed at baseline and after treatment for psychopathology, neurocognition and BADE. RESULTS: After MCT+CACR patients showed significantly greater improvements on BADE. Although BADE baseline performances correlated with several cognitive domains, no association was found between BADE improvement and neurocognitive nor psychopathological measures. CONCLUSIONS: This study enlightened for the first time the efficacy of MCT+CACR on BADE in schizophrenia, suggesting the importance to develop a more specific intervention tailored on individual needs of patients.


Subject(s)
Cognitive Behavioral Therapy/methods , Metacognition , Neuropsychological Tests/statistics & numerical data , Schizophrenia/rehabilitation , Adult , Female , Humans , Male , Middle Aged , Perceptual Distortion , Psychiatric Status Rating Scales , Schizophrenic Psychology
8.
J. investig. allergol. clin. immunol ; 25(3): 183-189, 2015. tab
Article in English | IBECS | ID: ibc-136423

ABSTRACT

Antecedentes: La relevancia de los diferentes alérgenos del tomate, en relación a la severidad de los síntomas producidos tras su ingesta, no ha sido aún establecida. Objetivos: Evaluar la relación entre las reacciones alérgicas graves inducidas por melocotón y tomate y entre los síntomas presentados tras ingesta de tomate, y el patrón de sensibilizaciones IgE mediadas frente a rPru p1, rPrup3, rPrup4, rBetv1, rBetv2, rBetv4, rPhlp1 y rPhlp12 con el fin de concretar la responsabilidad de cada uno de los alérgenos en la gravedad de las reacciones producidas por el tomate. Métodos: Dentro de una población de pacientes alérgicos a melocotón seleccionamos aquellos pacientes con antecedentes de reacciones a tomate mediante una provocación oral abierta (OFC), pruebas cutáneas (SPT) e IgE específica a tomate, a alérgenos recombinantes de melocotón y gramíneas. La gravedad de los síntomas producidos por el tomate estaba relacionada con la presencia de IgE frente a los diferentes alérgenos así como a los síntomas causados por la ingesta de melocotón. Resultados: Se halló una asociación significativa entre las reacciones alérgicas graves a tomate con las reacciones graves a melocotón (p = 0,017) así como con los valores de IgE específica a rPrup3 (p = 0,029), en tanto que los valores de IgE específica a rPrup1, rBetv1, rBetv2 y Phleum pratense se relacionaban con síntomas leves tras ingesta de tomate (p = 0,047, p = 0,0414, p = 0,0457, p = 0,0022 respectivamente). Conclusión: Existe una relación significativa entre los síntomas producidos por el melocotón y el tomate. La presencia de IgE específica frente a rPrup3 parece ser un marcador de síntomas graves por alergia a tomate, en tanto que la presencia de IgE específica anti rPrup1 parece ser un marcador de síntomas leves en los pacientes alérgicos a tomate (AU)


Background: The role of allergens in the severity of tomato allergy symptoms has not yet been studied. Objectives: To evaluate the relationship between severe allergic reactions to peach and tomato and between tomato allergy symptoms and the pattern of IgE positivity for rPrup1, rPrup3, rPrup4, rBetv1, rBetv2, rBetv4, rPhlp1, and rPhlp12 in order to identify the role of recombinant allergens in the severity of reactions to tomato. Methods: We studied peach-allergic patients with clinical reactions to tomato by performing an open food challenge, skin prick test, and determination of serum specific IgE to tomato and to recombinant peach, birch, and grass allergens. Statistical analysis was carried out to evaluate the relationship between the severity of tomato symptoms and IgE positivity to the different allergens and to peach-induced symptoms. Results: We found a significant association between severe reactions to tomato and severe reactions to peach (P=.017) and levels of IgE to rPrup3 (P=.029) and between mild tomato allergy symptoms and levels of IgE to rPrup1 (P=.047), anti-rBetv1 (P=.0414), anti-rBetv2 (P=.0457), and Phleum pratense (P=.0022). Conclusion: We observed a significant relationship between peach and symptoms of tomato allergy. IgE positivity for rPrup3 seems to be a surrogate biochemical marker for severe tomato allergy, whereas the presence of anti-rPrup1 IgE may be an indicator of mild tomato allergy (AU)


Subject(s)
Humans , Male , Female , Food Hypersensitivity/complications , Food Hypersensitivity/diagnosis , Food Hypersensitivity/immunology , Solanum lycopersicum/adverse effects , Prunus/adverse effects , Skin Tests , Hypersensitivity, Immediate/complications , Hypersensitivity, Immediate/immunology , Immunoglobulin E , Lipid-Linked Proteins/immunology
9.
Eur Ann Allergy Clin Immunol ; 44(4): 150-6, 2012 Aug.
Article in English | MEDLINE | ID: mdl-23092000

ABSTRACT

Anisakiasis, firstly described in 1960s in the Netherlands, is a fish-borne parasitic disease caused by the consumption of raw or undercooked fish or cephalopods contaminated by third stage (13) larvae of the Anisakidae family, in particular Anisakis simplex (As), A. pegreffii and Pseudoterranova decipiens. Every year, approximately 20,000 cases of anisakiasis were reported worldwide, over 90% are from Japan and most others in Spain, the Netherlands and Germany, depending on the habits of fish consuming. Live As larvae can elicit i) a parasitic infection of the digestive tract or, occasionally, other organs, causing erosive and/or haemorrhagic lesions, ascites, perforations until granulomas and masses, if larva is not removed, and ii) allergic reactions, as anaphylaxis, acute/chronic urticaria and angioedema. Like other parasite infestations, As larva induces an immune adaptive response characterised by T-lymphocyte proliferation with polyclonal and monoclonal (responsible for As allergic symptoms) IgE production, eosinophilia and mastocytosis. Several As allergens, many of which thermostable, were described In particular the major allergen Ani s 1 and Ani s 7 could characterized a past or a recent infection. There is a general agreement that an active infection is required to initiate allergic sensitivity to Anisakis. Until now, the only effective treatment for anisakiasis is the endoscopic removal of live larvae and the best protection against anisakiasis is to educate consumers about the dangers of eating raw fish and to recommend avoiding the consumption of raw or inadequately thermally treated marine fish or cephalopods.


Subject(s)
Anisakiasis , Adaptive Immunity , Animals , Anisakiasis/epidemiology , Anisakiasis/immunology , Anisakiasis/therapy , Anisakis/immunology , Cytokines/biosynthesis , Humans , Hypersensitivity/etiology , Immunoglobulin E/immunology
10.
Rev. argent. dermatol ; 81(2): 110-7, abr.-jun. 2000. ilus, tab
Article in Spanish | BINACIS | ID: bin-11211

ABSTRACT

Spirulina plantesis es una cyanobacteria cuya biomasa posee un alto contenido en proteínas, vitaminas y ácidos grasos que justifica su uso como suplemento en la dieta. El objetivo de este trabajo fue evaluar los efectos de la ingestión de S. platensis sobre el crecimiento, morfología y metabolismo en ratas Sprague-Dawley. 12 ratas hembras de 21 días de edad recibieron diarimente por sonda gástrica 2,0 ml de agua sin (control, N=6) o con 300mg S. platensis seca- pulverizada ( tratadas, N= 6), alimento comercial para roedores y agua ad libitum, durante 50 díaS. Los parámetros evaluados fueron: igesta de alimento comercial/día, peso corporal, ancho de cabeza, largo de la cola (semanalmente). Los animales fueron sacrificados, y se pesaron: hipófisis, hígado, riñones derecho e izquierdo, ciego, ovarios derecho e izquierdo, cuerpo uterino, páncreas, bazo y estómago. Se midio el ancho y largo de los pelos de la región externa de la oreja. La sangre se obtuvo por punción cardíaca; en elksuero se midieron, HDL, LDL y colesterol total, aspartato amino transferasa- GOT (AST), colinesterasa (ChE), y glutamil transferasa (y GT), fosfatasa alcalina, uremia, actividad de la enzima ALA-D y el contenido de pòrfirinas totales en hígado y pelos. Las ratas alimentadas con S. platensis no mostraron diferencias significativas en el crecimiento durante el tratamiento. Semanalmente, el peso corporal, ancho de cabeza y largo de cola no mostraron diferencias entre los tratamientos. El peso del ciego de los tratados (6,6583 +- 0,4209g) fue mayor (p<0,001) que los controles (5,0879 +- 0,9037g). No se observaron diferencias de peso en otros órganos. Los niveles de HDL, LDL y colesteroi total, GOT (AST), ChE, GT y uremia no mostraron diferencias entre tratadas y Control...(AU)


Subject(s)
Rats , Rats/growth & development , Rats/metabolism , Dietary Supplements , Porphyrins , Cholesterol
11.
Rev. argent. dermatol ; 81(2): 110-7, abr.-jun. 2000. ilus, tab
Article in Spanish | LILACS | ID: lil-278341

ABSTRACT

Spirulina plantesis es una cyanobacteria cuya biomasa posee un alto contenido en proteínas, vitaminas y ácidos grasos que justifica su uso como suplemento en la dieta. El objetivo de este trabajo fue evaluar los efectos de la ingestión de S. platensis sobre el crecimiento, morfología y metabolismo en ratas Sprague-Dawley. 12 ratas hembras de 21 días de edad recibieron diarimente por sonda gástrica 2,0 ml de agua sin (control, N=6) o con 300mg S. platensis seca- pulverizada ( tratadas, N= 6), alimento comercial para roedores y agua ad libitum, durante 50 díaS. Los parámetros evaluados fueron: igesta de alimento comercial/día, peso corporal, ancho de cabeza, largo de la cola (semanalmente). Los animales fueron sacrificados, y se pesaron: hipófisis, hígado, riñones derecho e izquierdo, ciego, ovarios derecho e izquierdo, cuerpo uterino, páncreas, bazo y estómago. Se midio el ancho y largo de los pelos de la región externa de la oreja. La sangre se obtuvo por punción cardíaca; en elksuero se midieron, HDL, LDL y colesterol total, aspartato amino transferasa- GOT (AST), colinesterasa (ChE), y glutamil transferasa (y GT), fosfatasa alcalina, uremia, actividad de la enzima ALA-D y el contenido de pòrfirinas totales en hígado y pelos. Las ratas alimentadas con S. platensis no mostraron diferencias significativas en el crecimiento durante el tratamiento. Semanalmente, el peso corporal, ancho de cabeza y largo de cola no mostraron diferencias entre los tratamientos. El peso del ciego de los tratados (6,6583 +- 0,4209g) fue mayor (p<0,001) que los controles (5,0879 +- 0,9037g). No se observaron diferencias de peso en otros órganos. Los niveles de HDL, LDL y colesteroi total, GOT (AST), ChE, GT y uremia no mostraron diferencias entre tratadas y Control...


Subject(s)
Rats , Dietary Supplements , Rats/growth & development , Rats/metabolism , Cholesterol , Porphyrins
12.
Br J Haematol ; 104(1): 108-10, 1999 Jan.
Article in English | MEDLINE | ID: mdl-10027721

ABSTRACT

Haemophagocytic lymphohistiocytosis (HLH) is a severe disorder of early infancy consistent with an autosomal recessive inheritance. Neither the genetic locus nor the biochemical defect is known for the disease. A constitutional pericentric inversion of chromosome 9, with breakpoints in bands 9p23 and 9q31, has been reported in a case of HLH, suggesting a possible relationship between this chromosome abnormality and the disease. We investigated such an association, performing a genetic linkage analysis in a set of five consanguineous HLH families. 27 polymorphic markers on chromosome 9 were studied, excluding most of chromosome 9 as a putative site for the HLH gene.


Subject(s)
Chromosome Breakage/genetics , Chromosome Inversion , Chromosomes, Human, Pair 9/genetics , Histiocytosis, Non-Langerhans-Cell/genetics , Consanguinity , Genetic Linkage , Humans , Polymorphism, Genetic
13.
Hum Genet ; 99(6): 766-71, 1997 Jun.
Article in English | MEDLINE | ID: mdl-9187670

ABSTRACT

A female child with mild dysmorphisms, motor and mental retardation had a 45,XX,-8,-8,+psu dic(8)(p23.3) karyotype in blood lymphocytes, skin fibroblasts and in a lymphoblastoid cell line. DNA analysis showed that the proposita was nullisomic for the 8pter region distal to D8S264, at less than 1 cM from the telomere. Analysis of DNA polymorphisms of 38 loci spread along the entire chromosome 8 revealed that only maternal alleles were present, distributed in four heterozygous and four homozygous regions. This finding indicated that the rearrangement occurred during maternal meiosis in a chromosome recombinant with a minimum of seven crossovers. To our knowledge this is the first case of uniparental maternal disomy for chromosome 8 and of nullisomy for the distal 1-cM portion of the short arm. The available data are in favour of the assumption that no imprinted genes are present on chromosome 8. Thus, dysmorphisms, motor and mental retardation of the proposita are likely to be caused by the nullisomy for the region distal to D8S264, a region in which a recessive gene for epilepsy with progressive mental retardation is known to be located.


Subject(s)
Ataxia/genetics , Chromosomes, Human, Pair 8 , Genomic Imprinting , Intellectual Disability/genetics , Adult , Chromosome Deletion , Chromosome Mapping , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping
14.
J Hepatol ; 26(1): 111-8, 1997 Jan.
Article in English | MEDLINE | ID: mdl-9148001

ABSTRACT

BACKGROUND/AIMS: The prevalence of hepatic vascular malformations in hereditary hemorrhagic telangiectasia has been estimated in the literature on clinical criteria, thus giving unreliable data. In our study the presence of hepatic vascular malformations in hereditary hemorrhagic telangiectasia was evaluated in a large Italian family by using Doppler sonography findings were compared to computed tomography and angiography results. Clinical features were related to the severity of hepatic vascular malformations. METHODS: Seventy-three relatives were checked for the presence of signs of hereditary hemorrhagic telangiectasia. Abdominal Doppler ultrasonography was performed in all of them. Every subject with a positive Doppler ultrasonography for hepatic vascular malformations underwent abdominal computed tomography and celiac angiography. RESULTS: Forty family members proved to be affected by hereditary hemorrhagic telangiectasia. Of these, hepatic vascular malformations were evidenced by Doppler ultrasonography in 13 females. Doppler ultrasongraphy demonstrated minimal hepatic vascular abnormalities in three subjects, moderate in three, and severe in seven. Doppler study was diagnostic for arteriovenous shunt with hepatic veins in seven cases and with portal vein in two. Computed tomography failed to demonstrate hepatic vascular malformations in two cases, while angiography confirmed the Doppler sonographic findings in all cases. Cholestasis was present in subjects with moderate and severe hepatic vascular malformations. CONCLUSIONS: Doppler sonography is the ideal imaging technique to screen hereditary hemorrhagic telangiectasia affected families for hepatic vascular malformations. These malformations do not appear to be age-dependent, but sex-dependent. Cholestasis is the main clinical sign, and it seems to correlate with the severity of hepatic vascular derangement.


Subject(s)
Arteriovenous Malformations/genetics , Liver/blood supply , Telangiectasia, Hereditary Hemorrhagic/genetics , Ultrasonography, Doppler , Adolescent , Adult , Aged , Aged, 80 and over , Aortography , Arteriovenous Malformations/diagnostic imaging , Arteriovenous Malformations/epidemiology , Child , Child, Preschool , Female , Hepatic Artery/diagnostic imaging , Humans , Middle Aged , Pedigree , Prevalence , Telangiectasia, Hereditary Hemorrhagic/diagnostic imaging , Tomography, X-Ray Computed
15.
Cell Mol Life Sci ; 53(7): 583-6, 1997 Jul.
Article in English | MEDLINE | ID: mdl-19492477

ABSTRACT

The karyotype of specimens identified as Calomys lepidus, trapped at 3600 m above sea level in the Puna region, northwestern Argentina, was studied. All specimens analysed showed a 2n = 44 (NF(a) = 68) asymmetrical karyotype with 13 pairs of metacentric/submetacentric autosomes and 7 pairs of telocentric chromosomes. The X was a medium-sized submetacentric and the Y a small submetacentric chromosome. This karyotype was quite different from that previously described for C. lepidus from Peru (2n = 36, NF(a) = 68). However, both karyotypes may be easily interrelated by means of four centric fusions, and the chromosome complement of Punian C. lepidus fitted into a previously proposed chromosomal phylogeny of the genus. In addition, the spermatozoa of specimens corresponded to a morphological pattern previously described for other species of Calomys.


Subject(s)
Chromosomes, Mammalian , Phylogeny , Sigmodontinae/genetics , Animals , Argentina , Biological Evolution , Chromosome Banding , Female , Karyotyping , Male , Sigmodontinae/classification , Spermatozoa/ultrastructure , X Chromosome
16.
J Med Genet ; 33(6): 441-3, 1996 Jun.
Article in English | MEDLINE | ID: mdl-8782041

ABSTRACT

Hereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous dominant disorder. Two disease loci have been mapped to chromosomes 9q3 and 12q. In a large pedigree, with an unusually high number of patients with liver vascular malformations, both previously mapped loci have been excluded. The loci for two other inherited vascular malformation diseases, cerebral cavernous malformations and multiple cutaneous and mucosal venous malformations, have also been excluded. Thus we conclude that at least a third, as yet unmapped, HHT locus does exist, possibly associated with high frequency of liver involvement.


Subject(s)
Liver Diseases/genetics , Telangiectasia, Hereditary Hemorrhagic/genetics , Female , Genetic Linkage , Humans , Liver Diseases/complications , Male , Pedigree , Telangiectasia, Hereditary Hemorrhagic/complications
17.
Am J Hum Genet ; 58(4): 785-96, 1996 Apr.
Article in English | MEDLINE | ID: mdl-8644743

ABSTRACT

We studied 16 cases of 8p duplications, with a karyotype 46,XX or XY,dup(8p), associated with mental retardation, facial dysmorphisms, and brain defects. We demonstrate that these 8p rearrangements can be either dicentric (6 cases) with the second centromere at the tip of the short arm or monocentric (10 cases). The distal 8p23 region, from D8S349 to the telomere, including the defensin 1 locus, is deleted in all the cases. The region spanning from D8S252 to D8S265, at the proximal 8p23 region, is present in single copy, and the remaining part of the abnormal 8 short arm is duplicated in the dicentric cases and partially duplicated in the monocentric ones. The distal edge of the duplication always spans up to D8S552 (8p23.1), while its proximal edge includes the centromere in the dicentric cases and varies from case to case in the monocentric ones. The analysis of DNA polymorphisms indicates that the rearrangement is consistently of maternal origin. In the deleted region, only paternal alleles were present in the patient. In the duplicated region, besides one paternal allele, some loci showed two different maternal alleles, while others, which were duplicated by FISH analysis, showed only one maternal allele. We hypothesize that, at maternal meiosis I, there was abnormal pairing of chromosomes 8 followed by anomalous crossover at the regions delimited by D8S552 and D8S35 and by D8S252 and D8S349, which presumably contain inverted repeated sequences. The resulting dicentric chromosome, 8qter-8p23.1(D8S552)::8p23.1-(D8S35)-8q ter, due to the presence of two centromeres, breaks at anaphase I, generating an inverted duplicated 8p, dicentric if the breakage occurs at the centromere or monocentric if it occurs between centromeres.


Subject(s)
Abnormalities, Multiple/genetics , Centromere/genetics , Chromosomes, Human, Pair 8 , Meiosis/genetics , Multigene Family/genetics , Brain/abnormalities , Chromosome Mapping , Crossing Over, Genetic/genetics , Face/abnormalities , Female , Humans , Intellectual Disability/genetics , Male , Models, Genetic , Polymorphism, Genetic , Syndrome
18.
AJR Am J Roentgenol ; 163(5): 1105-10, 1994 Nov.
Article in English | MEDLINE | ID: mdl-7976883

ABSTRACT

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu disease is an autosomal dominant disorder characterized by telangiectases and arteriovenous malformations (AVM) of skin, mucosa, and potentially every organ. The reported prevalence of the disorder is 1/100,000-2/100,000; hepatic involvement occurs in 8-31% of cases (almost always defined by clinical criteria). Hepatic involvement is shown by examination of biopsy and necropsy specimens [1] and by angiography [2]. More recently, hepatic vascular malformations have been detected by using sonography [3], Doppler sonography [4, 5], CT [6], and MR imaging [7]. In almost all the cases described, the malformations were detected in a late stage of hepatic vascular derangement. This pictorial essay illustrates the broad spectrum of abnormalities of hepatic vessels and collaterals in HHT that are detectable by imaging techniques even in the early or clinically silent stages of the diseases.


Subject(s)
Arteriovenous Malformations/diagnosis , Hepatic Artery/abnormalities , Hepatic Veins/abnormalities , Portal Vein/abnormalities , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Angiography , Hepatic Artery/diagnostic imaging , Hepatic Veins/diagnostic imaging , Humans , Magnetic Resonance Angiography , Portal Vein/diagnostic imaging , Pulsatile Flow , Radiographic Image Enhancement , Tomography, X-Ray Computed , Ultrasonography, Doppler, Color , Ultrasonography, Doppler, Pulsed
19.
Am J Med Genet ; 47(3): 420-2, 1993 Sep 01.
Article in English | MEDLINE | ID: mdl-8135292

ABSTRACT

We describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro-reno-digital syndromes. Autosomal recessive inheritance is suggested.


Subject(s)
Abnormalities, Multiple/genetics , Cerebellum/abnormalities , Intellectual Disability/genetics , Kidney Diseases, Cystic/genetics , Polydactyly/genetics , Face/abnormalities , Female , Genes, Recessive , Humans , Infant, Newborn , Male , Meningocele/genetics , Pedigree , Seizures/genetics , Syndrome
20.
Mutat Res ; 291(3): 213-6, 1993 Jun.
Article in English | MEDLINE | ID: mdl-7685062

ABSTRACT

We investigated the chromosomal damage induced by in vitro exposure to gamma-rays of uncultured first trimester chorionic villi. Frequency and types of chromosomal aberrations at increasing doses of radiation have been evaluated on cytotrophoblast spontaneous metaphases obtained after a short term incubation. Our results indicate a direct correlation between radiation dose and aberration frequency.


Subject(s)
Chorionic Villi/radiation effects , Chromosome Aberrations , Gamma Rays , Dose-Response Relationship, Radiation , Humans , Metaphase
SELECTION OF CITATIONS
SEARCH DETAIL
...