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1.
Actas Dermosifiliogr ; 105(1): 74-7, 2014.
Article in English | MEDLINE | ID: mdl-24378421

ABSTRACT

INTRODUCTION: Notalgia paresthetica is a sensory mononeuropathy that affects dorsal segments T2 to T6. It can have a significant effect on quality of life. Numerous treatments have been used with variable results. MATERIAL AND METHODS: Five patients diagnosed with notalgia paresthetica were treated with intradermal botulinum toxin A. None had achieved relief of the pruritus with previous treatments. RESULTS: Variable results were observed after the administration of intradermal botulinum toxin. Complete resolution of the pruritus was not achieved in any of the patients. CONCLUSIONS: Botulinum toxin A appears to be a safe therapeutic option for patients with notalgia paresthetica. However, data currently available come from small patient series, making it difficult to draw definitive conclusions regarding the true efficacy and long-term effects of this treatment.


Subject(s)
Botulinum Toxins, Type A/therapeutic use , Hyperpigmentation/complications , Neuralgia/drug therapy , Paresthesia/drug therapy , Pruritus/drug therapy , Adrenal Cortex Hormones/therapeutic use , Botulinum Toxins, Type A/administration & dosage , Capsaicin/therapeutic use , Carbamazepine/analogs & derivatives , Carbamazepine/therapeutic use , Combined Modality Therapy , Drug Evaluation , Female , Histamine Antagonists/therapeutic use , Humans , Injections, Intradermal , Male , Middle Aged , Neuralgia/complications , Oxcarbazepine , Paresthesia/complications , Paresthesia/therapy , Physical Therapy Modalities , Pregabalin , Pruritus/complications , Pruritus/therapy , Shoulder , Transcutaneous Electric Nerve Stimulation , Treatment Outcome , gamma-Aminobutyric Acid/analogs & derivatives , gamma-Aminobutyric Acid/therapeutic use
2.
J Eur Acad Dermatol Venereol ; 24(6): 730-2, 2010 Jun.
Article in English | MEDLINE | ID: mdl-19925596

ABSTRACT

BACKGROUND: Notalgia paresthesica is a disorder of unknown origin characterized by pruritus localized to the patients' back. Local pain, burning or paresthesias have also been described. No definite treatments have been found for this disorder and most of those reported to date are anecdotal. Topical capsaicin is the option most widely used among dermatologists. Transcutaneous electrical nerve stimulation, gabapentin, oxcarbazepine and botulinum toxin have recently shown promising effects. UVB has been used for decades to treat different pruritic skin diseases, but its benefits in the management of NP have not been stated to date. OBJECTIVES: To test the effects of UVB in notalgia paresthesica. Methods We used a course of UVB narrow band to treat five patients with notalgia paresthesica. The treatment was administered following a phototype protocol in a UV 7002 cabinet. RESULTS: We provide the results of a course of UVB narrow-band phototherapy in five patients. Phototherapy contributed substantially to improve pruritus in all of them. CONCLUSION: Given the benefits achieved, we stress the interest of UVB narrow-band as a safe and well tolerated alternative treatment for notalgia paresthetica.


Subject(s)
Pruritus/radiotherapy , Ultraviolet Therapy/methods , Adult , Aged , Back , Dose-Response Relationship, Radiation , Female , Humans , Male , Middle Aged , Treatment Outcome , Ultraviolet Therapy/adverse effects
5.
J Hum Genet ; 53(2): 106-120, 2008.
Article in English | MEDLINE | ID: mdl-18080086

ABSTRACT

The dispersal of the Austronesian language family from Southeast Asia represents the last major diaspora leading to the peopling of Oceania to the East and the Indian Ocean to the West. Several theories have been proposed to explain the current locations, and the linguistic and cultural diversity of Austronesian populations. However, the existing data do not support unequivocally any given migrational scenario. In the current study, the genetic profile of 15 autosomal STR loci is reported for the first time for two populations from opposite poles of the Austronesian range, Madagascar at the West and Tonga to the East. These collections are also compared to geographically targeted reference populations of Austronesian descent in order to investigate their current relationships and potential source population(s) within Southeast Asia. Our results indicate that while Madagascar derives 66.3% of its genetic makeup from Africa, a clear connection between the East African island and Southeast Asia can be discerned. The data suggest that although geographic location has influenced the phylogenetic relationships between Austronesian populations, a genetic connection that binds them beyond geographical divides is apparent.


Subject(s)
Ethnicity/genetics , Genetic Markers , Genetic Variation , Genetics, Population , Tandem Repeat Sequences/genetics , Africa/epidemiology , Alleles , Emigration and Immigration , Genotype , Humans , Madagascar/epidemiology , Phylogeny , Polynesia/epidemiology , Tonga/epidemiology
7.
Acta Derm Venereol ; 81(1): 51-3, 2001.
Article in English | MEDLINE | ID: mdl-11411917

ABSTRACT

A 67-year-old female presented with a 20-year-old lesion involving the right ear and preauricular area mimicking tuberculous lupus. Fusarium oxysporum infection was confirmed by biopsy studies and cultures. The biopsy specimen showed an unusually extensive dermal invasion with fungal hyphae. This is an uncommon clinical presentation for Fusarium infection in a healthy patient. When referred to us, the patient had received antifungal therapy with itraconazole without any benefit. Improvement was obtained with fluconazole therapy. The spectrum of cutaneous involvement related to Fusarium spp. includes toxic reactions, colonization, superficial indolent infection, deep cutaneous or subcutaneous infections and disseminated infection.


Subject(s)
Dermatomycoses/diagnosis , Fusarium/isolation & purification , Lupus Vulgaris/diagnosis , Aged , Biopsy, Needle , Chronic Disease , Dermatomycoses/drug therapy , Dermatomycoses/pathology , Diabetes Mellitus, Type 2/diagnosis , Diagnosis, Differential , Ear, External , Female , Fluconazole/administration & dosage , Follow-Up Studies , Fusarium/drug effects , Humans , Lupus Vulgaris/pathology , Treatment Outcome
8.
Am J Phys Anthropol ; 97(4): 381-9, 1995 Aug.
Article in English | MEDLINE | ID: mdl-7485435

ABSTRACT

The population of Cabo Verde was founded in the fifteenth century (1462), on the basis of slaves brought from the West African coast and a few Europeans, mainly from Portugal. The polymorphism of six red cell enzymes (ADA, AK1, ALAD, ESD, GLO1, and PGD) and ten plasma proteins (AHSG, BF, F13A, F13B, GC, HP, ORM, PLG, TBG, and TF) was studied in a sample of 268 individuals from Cabo Verde (West Africa). There is no statistical evidence of genetic heterogeneity between the two groups of islands which constitute the archipelago, Barlavento and Sotavento. The gene frequency distribution observed in Cabo Verde differs, in many markers, from that of West African populations, suggesting an important European influence. The proportion of Caucasian genes in the population of Cabo Verde has been calculated to be M = 0.3634 +/- 0.0510, and the considerable dispersion of the locus-specific admixture estimates seems to indicate random drift has also played a role in the evolution of the allele frequencies in the archipelago. Partition of the variance of the mean estimate in evolutionary and sampling variance shows the evolutionary variance is more than ten times higher than the sampling variance. When dendrograms are constructed on the basis of different genetic distances, the population of Cabo Verde clusters with Afro-Americans, forming a different group from the populations of the African continent. This is interpreted as a consequence of the importance of Caucasian admixture both in Afro-Americans and in the population of Cabo Verde.


Subject(s)
Genetics, Population , Africa, Western , Blood Proteins/genetics , Erythrocytes/enzymology , Europe , Gene Frequency , Humans , Polymorphism, Genetic
9.
Am J Hum Biol ; 7(6): 701-709, 1995.
Article in English | MEDLINE | ID: mdl-28557158

ABSTRACT

The genetic polymorphism of six red cell enzymes (ADA, AK1, ALAD, ESD, GLO1, and PGD) and 10 plasma proteins (AHSG, BF, F13A, F13B, GC, HP, ORM, PLG, TBG, and TF) is analyzed in a sample of 268 unrelated individuals from Cabo Verde (West Africa). The population of Cabo Verde was founded in the 15th century (1462), on the basis of a great number of slaves brought from the West African coast and a few Europeans, mainly from Portugal. The frequencies found in Cabo Verde for the majority of the markers are intermediate between those reported for Africans and Europeans. Further, the presence of alleles which are rarely or never seen in Blacks, but are common in Caucasians, suggest a substantial contribution of Europeans to the gene pool of the population of Cabo Verde. © 1995 Wiley-Liss, Inc.

10.
Electrophoresis ; 15(8-9): 1191-2, 1994.
Article in English | MEDLINE | ID: mdl-7532128

ABSTRACT

Inter-alpha-trypsin inhibitor (ITI) phenotypes were classified in the West African population of Cabo Verde by polyacrylamide gel isoelectric focusing, followed by immunofixation and silver staining. Gene frequencies of the alleles ITI*1, ITI*2, ITI*3, and ITI*4 were calculated to be 0.532, 0.153, 0.307 and 0.002, respectively. A new rare allele, ITI*7, was found, providing evidence for further genetic variability of the ITI protein. The ITI*7 allele frequency has been determined to 0.006. The assumption that allele ITI*3 may be used to characterize populations of African origin is supported by our data.


Subject(s)
Alleles , Alpha-Globulins/genetics , Alpha-Globulins/isolation & purification , Africa, Western , Humans , Isoelectric Focusing/methods , Phenotype
11.
Gene Geogr ; 8(1): 1-6, 1994 Apr.
Article in English | MEDLINE | ID: mdl-7619771

ABSTRACT

The genetic polymorphism of alpha-2-HS-glycoprotein (AHSG) was studied in the population of Cabo Verde (West Africa), using isoelectric focusing in polyacrylamide gels followed by immunofixation-silver stain. AHSG frequencies are reported for the first time in a subsaharan African population. In addition to the common variants, AHSG 1 and AHSG 2, five AHSG variants were observed, including a new variant, tentatively designated AHSG 32. The allele frequencies were, AHSG*1: 0.7289, AHSG*2: 0.2111, AHSG*10: 0.0276, AHSG*3: 0.0162, AHSG*11: 0.0081, AHSG*22: 0.0065, AHSG*32:0.0016.


Subject(s)
Alleles , Blood Proteins/genetics , Africa, Western , Black People/genetics , Blood Proteins/classification , Electrophoresis, Polyacrylamide Gel , Gene Frequency , Humans , Isoelectric Focusing , Phenotype , Polymorphism, Genetic , alpha-2-HS-Glycoprotein
12.
Gene Geogr ; 8(1): 67-74, 1994 Apr.
Article in English | MEDLINE | ID: mdl-7619777

ABSTRACT

The genetic polymorphism of the human Properdin Factor B (BF) in five populations of the Iberian Peninsula (Galicia, Castilla-Leon, Castilla-La Mancha, Extremadura and Western Andalusia) was analysed by means of Isoelectric Focusing in polyacrylamide gels followed by Immunofixation-Silver Staining. Statistical analysis of heterogeneity showed significant differences in the distribution of BF allele frequencies among the Iberian populations so far examined. The high allele frequencies obtained for BF*F and BF*F1 give support to the allelocline distribution hypothesis in the European continent (regression analysis between allele frequency and latitude: r = -0.6237 and r+ -0.8058, for BF*F1 and BF*F respectively).


Subject(s)
Complement Factor B/genetics , Gene Frequency , Phenotype , Racial Groups/genetics , Alleles , Electrophoresis, Polyacrylamide Gel , Genetic Heterogeneity , Humans , Isoelectric Focusing , Polymorphism, Genetic , Regression Analysis , Spain , White People/genetics
13.
J Forensic Sci ; 37(3): 695-9, 1992 May.
Article in English | MEDLINE | ID: mdl-1352796

ABSTRACT

In this paper, we report a simple rapid method for simultaneous determination of Coagulation Factor XIIIA (F13A) and plasminogen (PLG) phenotypes by PAGIF with a nominal pH range of 3.5 to 10, followed by immunofixation and silver stain. Critical considerations concerning the conditions of molecular separation and detection strategies are also presented.


Subject(s)
Genetic Markers , Plasminogen/analysis , Transglutaminases/analysis , Heterozygote , Homozygote , Humans , Isoelectric Focusing , Phenotype , Plasminogen/genetics , Reproducibility of Results , Transglutaminases/genetics
14.
Gene Geogr ; 6(1-2): 89-95, 1992.
Article in English | MEDLINE | ID: mdl-1299319

ABSTRACT

The distribution of Plasminogen (PLG) phenotypes in five populations of Spain (Galicia, Castilla-La Mancha, Castilla-León, Extremadura and Western Andalucia) is analysed by means of polyacrylamide gel isoelectric focusing and immunofixation. PLG*A frequencies, ranging from 0.7281 in Extremadura to 0.8038 in Castilla-León, are similar to those reported for other Southern populations of the European continent and higher than those in Northern and Central European populations. Heterogeneity analysis of the PLG allele distribution among different regions of the Iberian Peninsula have also been carried out.


Subject(s)
Gene Frequency , Plasminogen/genetics , White People/genetics , Alleles , Asian People/genetics , Black People/genetics , Ethnicity/genetics , Genetic Markers , Humans , Phenotype , Portugal , Spain
15.
Hum Hered ; 42(4): 264-8, 1992.
Article in English | MEDLINE | ID: mdl-1512007

ABSTRACT

The distribution of the phenotypes for coagulation factor XIIIA subunit (F13A) of autochthonous individuals from the following five Spanish populations was studied: Galicia, Castilla-León, Castilla-La Mancha, Extremadura and Western Andalusia. The frequency values obtained for F13A*2 ranged from 0.248 to 0.311. To date, these values are the highest recorded in the world.


Subject(s)
Gene Frequency/genetics , Alleles , Humans , Phenotype , Spain/epidemiology
16.
Hum Hered ; 40(1): 52-4, 1990.
Article in English | MEDLINE | ID: mdl-2138119

ABSTRACT

Genetic variants of leukocyte mitochondrial glutamate oxaloacetate transaminase, mitochondrial malic enzyme and phosphoglucomutase locus III were studied in the Galician population. There was no significant heterogeneity between 8 Galician subpopulations. The gene frequencies in the total population were: GOT(2)2 = 0.025; ME(2)2 = 0.408; PGM(2)3 = 0.333. No rare variants were found.


Subject(s)
Aspartate Aminotransferases/genetics , Gene Frequency , Leukocytes/enzymology , Malate Dehydrogenase/genetics , Phosphoglucomutase/genetics , Polymorphism, Genetic , Humans , Spain
17.
Hum Hered ; 40(6): 330-4, 1990.
Article in English | MEDLINE | ID: mdl-2083946

ABSTRACT

The genetic variation of orosomucoid (ORM1 and ORM2) in three south-western European populations (Galicia, Spanish Basque Country and northern Portugal) was investigated using hybrid isoelectric focusing. Three common ORM1 alleles were observed in these populations, the frequencies of ORM1 *S observed in Galicia and northern Portugal being the highest found among populations of European origin. Rare variants were observed for both the ORM1 and ORM2 loci.


Subject(s)
Gene Frequency , Orosomucoid/genetics , Genetic Variation , Humans , Isoelectric Focusing , Portugal , Spain
18.
J Forensic Sci ; 34(5): 1090-4, 1989 Sep.
Article in English | MEDLINE | ID: mdl-2553853

ABSTRACT

Simultaneous determination of uridine monophosphate kinase (UMPK) and aminolevulinate dehydrase (ALAD) has been carried out after discontinuous starch gel electrophoresis in the Galician population (NW Spain), including 129 families with a total of 291 descendents. Formal genetic studies are in agreement with the autosomal codominant way of inheritance for each locus. No evidence of phenotype association between both loci among the offspring is observed. Chance of exclusion for non-fathers is 0.041 13 for UMPK and 0.0702 for ALAD configuring a total exclusion rate of 0.1085 when both systems are evaluated together.


Subject(s)
Erythrocytes/enzymology , Nucleoside-Phosphate Kinase/genetics , Paternity , Phosphotransferases/genetics , Porphobilinogen Synthase/genetics , Female , Gene Frequency/genetics , Humans , Male , Nucleoside-Phosphate Kinase/blood , Phenotype , Porphobilinogen Synthase/blood , Spain
19.
Hum Hered ; 38(6): 353-8, 1988.
Article in English | MEDLINE | ID: mdl-3246375

ABSTRACT

The correlation between ORM phenotypes in untreated serum and ORM phenotypes after isoelectric focusing of neuraminidase-treated serum is demonstrated. ORM subtypes were determined using isoelectric focusing in immobilized pH gradients. Population genetic studies of ORM polymorphism in the Galician population were also carried out.


Subject(s)
Asialoglycoproteins , Gene Frequency , Orosomucoid/analogs & derivatives , Orosomucoid/genetics , Humans , Isoelectric Focusing , Orosomucoid/analysis , Phenotype , Polymorphism, Genetic , Spain
20.
Hum Hered ; 38(2): 83-90, 1988.
Article in English | MEDLINE | ID: mdl-2454216

ABSTRACT

The genetic polymorphism of three salivary enzymes (esterase, glucose-6-phosphate dehydrogenase and amylase) was studied in 580 autochthonous individuals from the Galician population (North-West Spain). The gene frequencies obtained were: SetF = 0.4036, SetS = 0.5964; Sgd1 = 0.7828, Sgd2 = 0.2172; AMY11 = 0.9319, AMY21 = 0.0495, AMY31 = 0.0186. Evidence of genetic intrapopulational heterogeneity was found for Set and Sgd loci. An alternative method for AMY1 typing by means of isoelectric focusing is proposed which allows the use of long-term stored saliva samples.


Subject(s)
Amylases/genetics , Esterases/genetics , Glucosephosphate Dehydrogenase/genetics , Polymorphism, Genetic , Salivary Proteins and Peptides/genetics , Amylases/analysis , Ethnicity , Gene Frequency , Genetic Markers , Humans , Isoelectric Focusing/methods , Preservation, Biological , Saliva/enzymology , Spain , Specimen Handling , White People
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