15 results on '"Ben Rhouma F"'
Search Results
2. Adult gaucher disease in southern Tunisia: report of three cases
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Ben Rhouma Faten, Kallel Faten, Kefi Rym, Cherif Wafa, Nagara Majdi, Azaiez Hela, Jedidi Ines, Elloumi Moez, Abdelhak Sonia, and Mseddi Sondes
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Adult ,Gaucher disease ,p.N370S ,Parkinsson disease ,Tunisia ,Pathology ,RB1-214 - Abstract
Abstract Background Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease. Findings Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state. Conclusion The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.
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- 2012
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3. Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie
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Cherif, W., Ben Rhouma, F., Ben Chehida, A., Azzouz, H., Monastiri, K., Amri, F., Chemli, J., Kaabachi, N., Abdelhak, S., Tebib, N., and Ben Dridi, M.-F.
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GLYCOGEN storage disease , *GENETIC mutation , *MOLECULAR diagnosis , *COST effectiveness , *HYPOGLYCEMIA - Abstract
Abstract: The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization of GSD Ia in Tunisian patients and the development of a molecular diagnosis tool. Our study included 27 patients from 23 unrelated families, mutation analysis revealed that the R83C mutation is the most frequent (65%, 30/46 mutant alleles), followed by the R170Q mutation (30%, 14/46 mutant alleles). The homogeneity of mutation spectrum of GSD Ia in Tunisia allows the development of a cost effective and reliable tool for the confirmation of clinical diagnosis among suspected GSD Ia patients. [Copyright &y& Elsevier]
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- 2011
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4. Diagnostic moléculaire de la maladie de Gaucher en Tunisie
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Cherif, W., Ben Turkia, H., Ben Rhouma, F., Riahi, I., Chemli, J., Amaral, O., Sá Miranda, M.C., Caillaud, C., Kaabachi, N., Tebib, N., Abdelhak, S., and Ben Dridi, M.F.
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GAUCHER'S disease diagnosis , *MOLECULAR diagnosis , *LYSOSOMAL storage diseases , *GLUCOSIDASES , *GENETIC mutation - Abstract
Abstract: Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members. [Copyright &y& Elsevier]
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- 2013
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5. Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.
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Ben Halim N, Hsouna S, Lasram K, Rejeb I, Walha A, Talmoudi F, Messai H, Sabrine Ben Brick A, Ouragini H, Cherif W, Nagara M, Ben Rhouma F, Chouchene I, Ouechtati F, Bouyacoub Y, Ben Rekaya M, Messaoud O, Ben Ammar S, El Matri L, Tebib N, Ben Dridi MF, Mokni M, Amouri A, Kefi R, and Abdelhak S
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- Adolescent, Adult, Aged, Alleles, Child, Child, Preschool, Consanguinity, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Prevalence, Tunisia epidemiology, Young Adult, Gene Frequency, Genes, Recessive, Genetic Predisposition to Disease genetics
- Abstract
Objectives: Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders and consider how other factors, such as population substructure and mutation frequency, may be of equal importance in disease prevalence., Methods: Consanguinity profiles were retrospectively studied among 425 Tunisian patients suffering from autosomal recessive xeroderma pigmentosum, dystrophic epidermolysis bullosa, nonsyndromic retinitis pigmentosa, Gaucher disease, Fanconi anemia, glycogenosis type I, and ichthyosis, and compared to those of a healthy control sample., Results: Consanguinity was observed in 341 cases (64.94%). Consanguinity rates per disease were 75.63, 63.64, 60.64, 61.29, 57.89, 73.33, and 51.28%, respectively. First-cousin marriages were the most common form of consanguinity (48.94%) with the percentages of 55.46, 45.46, 47.87, 48.39, 45.61, 56.66, and 35.90%, respectively. A very high level of geographic endogamy was also observed (93.92%), with the values by disease ranging between 75.86 and 96.64%. We observed an overall excess risk associated to consanguinity of nearly sevenfold which was proportional to the number of affected siblings and the frequency of disease allele in the family. Consanguinity was significantly associated with the first five cited diseases (odds ratio = 24.41, 15.17, 7.5, 5.53, and 5.07, respectively). However, no meaningful effects were reported among the remaining diseases., Conclusions: This study reveals a variation in the excess risk linked to consanguinity according to the type of disorder, suggesting the potential of cryptic population substructure to contribute to disease incidence in populations with complex social structure like Tunisia. It also emphasizes the role of other health and demographic aspects such as mutation frequency and reproductive replacement in diseases etiology., (© 2015 Wiley Periodicals, Inc.)
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- 2016
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6. Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
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Nagara M, Voskarides K, Nouira S, Ben Halim N, Kefi R, Aloulou H, Romdhane L, Ben Abdallah R, Ben Rhouma F, Aissa K, Boughamoura L, Kammoun T, Azzouz H, Abroug S, Ben Turkia H, Ayadi A, Mrad R, Chabchoub I, Hachicha M, Chemli J, Deltas C, and Abdelhak S
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- Case-Control Studies, Female, High-Throughput Nucleotide Sequencing, Humans, Male, Tunisia, Acidosis, Renal Tubular genetics, Founder Effect, Mutation, Vacuolar Proton-Translocating ATPases genetics
- Abstract
Background: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collecting duct. Both autosomal dominant and recessive forms have been described; the latter is also associated with sensorineural hearing loss., Methods: Twenty-two Tunisian families were analyzed for mutations in the ATP6V1B1 and ATP6V0A4 genes by direct sequencing. Dating of the founder mutations was performed., Results: Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases. The p.Ile386Hisfs*56 founder mutation was estimated to be older than 2400 years and no correlations were found with deafness. For the remaining patients, two mutations in the ATP6V0A4 gene, one of them being novel, were found in three Tunisian cases. The presence of a heterozygous missense mutation p.T30I, of the ATP6V1B1 gene, was identified in six patients, while no mutations of the second gene were detected. No deleterious mutations of either ATP6V1B1 or ATP6V0A were found for the two probands., Conclusion: Our study gives evidence of phenotypic and genotypic heterogeneity of dRTA in the Tunisian population. Five different mutations were found, two of them were due to a founder effect, and screening of these mutations could provide a rapid and valuable tool for diagnosis of dRTA.
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- 2014
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7. Specific aspects of consanguinity: some examples from the Tunisian population.
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Romdhane L, Ben Halim N, Rejeb I, Kefi R, Bouyacoub Y, Ben Rekaya M, Messai H, Messaoud O, Riahi Z, Bonnet C, Ben Rhouma F, Nagara M, Petit C, McElreavey K, Romeo G, and Abdelhak S
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- Founder Effect, Genetic Diseases, Inborn genetics, Humans, Tunisia epidemiology, Consanguinity, Genetic Diseases, Inborn epidemiology, Genetics, Population, Genome, Human genetics, Marriage statistics & numerical data
- Abstract
Located at the cross-road between Europe and Africa, Tunisia is a North African country of 11 million inhabitants. Throughout its history, it has been invaded by different ethnic groups. These historical events, and consanguinity, have impacted on the spectrum and frequency of genetic diseases in Tunisia. Investigations of Tunisian families have significantly contributed to elucidation of the genetic bases of rare disorders, providing an invaluable resource of cases due to particular familial structures (large family size, consanguinity and share of common ancestors). In the present study, we report on and review different aspects of consanguinity in the Tunisian population as a case study, representing several features common to neighboring or historically related countries in North Africa and the Middle East. Despite the educational, demographic and behavioral changes that have taken place during the last four decades, familial and geographical endogamy still exist at high frequencies, especially in rural areas. The health implications of consanguinity in Tunisian families include an increased risk of the expression of autosomal recessive diseases and particular phenotypic expressions. With new sequencing technologies, the investigation of consanguineous populations provides a unique opportunity to better evaluate the impact of consanguinity on the genome dynamic and on health, in addition to a better understanding of the genetic bases of diseases., (© 2014 S. Karger AG, Basel.)
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- 2014
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8. Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
- Author
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Nagara M, Tiar A, Ben Halim N, Ben Rhouma F, Messaoud O, Bouyacoub Y, Kefi R, Hassayoun S, Zouari N, Ben Ammar MS, Abdelhak S, and Chemli J
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- Adolescent, Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Female, Genetic Association Studies, Haplotypes, Humans, Hyperoxaluria, Primary diagnosis, Hyperoxaluria, Primary enzymology, Infant, Male, Molecular Diagnostic Techniques, Polymorphism, Single Nucleotide, Tunisia, Young Adult, Hyperoxaluria, Primary genetics, Mutation, Missense, Transaminases genetics
- Abstract
Background: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited metabolic disease, characterized by progressive kidney failure due to renal deposition of calcium oxalate. Mutations in the AGXT gene, encoding the liver-specific enzyme alanine glyoxylate aminotransferase, are responsible for the disease. We aimed to determine the mutational spectrum causing PH1 and to provide an accurate tool for diagnosis as well as for prenatal diagnosis in the affected families., Methods: Direct sequencing was used to detect mutations in the AGXT gene in DNA samples from 13 patients belonging to 12 Tunisian families., Results: Molecular analysis revealed five mutations causing PH1 in Tunisia. The mutations were identified along exons 1, 2, 4, 5 and 7. The most predominant mutations were the Maghrebian "p.I244T" and the Arabic "p.G190R". Furthermore, three other mutations characteristic of different ethnic groups were found in our study population. These results confirm the mutational heterogeneity related to PH1 in Tunisian population. All the mutations are in a homozygous state, reflecting the high impact of endogamy in our population., Conclusion: Mutation analysis through DNA sequencing can provide a useful first line investigation for PH1. This identification could provide an accurate tool for prenatal diagnosis, genetic counseling and screen for potential presymptomatic individuals., (© 2013 Elsevier B.V. All rights reserved.)
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- 2013
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9. Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
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Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, and Abdelhak S
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- Consanguinity, DNA Mutational Analysis, Female, Gene Order, Glycogen Storage Disease Type III metabolism, Humans, Infant, Infant, Newborn, Male, RNA Splice Sites, Siblings, Tunisia, Glycogen Debranching Enzyme System genetics, Glycogen Storage Disease Type III genetics, Introns, Point Mutation
- Abstract
Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The disease is characterized by fasting hypoglycemia, hepatomegaly, growth retardation, progressive myopathy and cardiomyopathy. In the present study, we present clinical features and molecular characterization of two consanguineous Tunisian siblings suffering from Glycogen storage disease type III. The full coding exons of the AGL gene and their corresponding exon-intron boundaries were amplified for the patients and their parents. Gene sequencing identified a novel single point mutation at the conserved polypyrimidine tract of intron 21 in a homozygous state (IVS21-8A>G). This variant cosegregated with the disease and was absent in 102 control chromosomes. In silico analysis using online resources showed a decreased score of the acceptor splice site of intron 21. RT-PCR analysis of the AGL splicing pattern revealed a 7 bp sequence insertion between exon 21 and exon 22 due to the creation of a new 3' splice site. The predicted mutant enzyme was truncated by the loss of 637 carboxyl-terminal amino acids as a result of premature termination. This novel mutation is the first mutation identified in the region of Bizerte and the tenth AGL mutation identified in Tunisia. Screening for this mutation can improve the genetic counseling and prenatal diagnosis of GSD III.
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- 2013
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10. [Molecular diagnosis of Gaucher disease in Tunisia].
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Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Amaral O, Sá Miranda MC, Caillaud C, Kaabachi N, Tebib N, Abdelhak S, and Ben Dridi MF
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- Adolescent, Adult, Age of Onset, Child, Child, Preschool, DNA Mutational Analysis methods, Female, Gaucher Disease complications, Gaucher Disease epidemiology, Genetic Predisposition to Disease, Genotype, Glucosylceramidase genetics, Humans, Infant, Infant, Newborn, Male, Middle Aged, Polymerase Chain Reaction methods, Polymorphism, Restriction Fragment Length physiology, Tunisia epidemiology, Young Adult, Gaucher Disease diagnosis, Gaucher Disease genetics, Molecular Diagnostic Techniques
- Abstract
Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members., (Copyright © 2012 Elsevier Masson SAS. All rights reserved.)
- Published
- 2013
- Full Text
- View/download PDF
11. High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
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Cherif W, Ben Rhouma F, Messai H, Mili A, Gribaa M, Kefi R, Ayadi A, Boughamoura L, Chemli J, Saad A, Kaabachi N, Sfar MT, Ben Dridi MF, Tebib N, and Abdelhak S
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- Cardiomyopathies genetics, Female, Founder Effect, Genotype, Glycogen Debranching Enzyme System deficiency, Glycogen Storage Disease Type III enzymology, Glycogen Storage Disease Type III epidemiology, Hepatomegaly genetics, Humans, Male, Muscular Diseases genetics, Phenotype, Tryptophan, Tunisia epidemiology, Glycogen Debranching Enzyme System genetics, Glycogen Storage Disease Type III genetics, Mutation
- Abstract
Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by the deficiency of glycogen debranching enzyme (AGL). It is characterized by hepatomegaly, progressive myopathy, cardiomyopathy and fasting hypoglycemia. Several mutations in AGL gene have been described in different populations. The W1327X mutation was reported in one Tunisian patient resident in Italy. We looked in this report to determine the frequency of W1327X mutation among Tunisian patients. The W1327X mutation was screening in 26 GSD III patients originated from various geographic locations in Tunisia. The sequence analysis revealed that among nine patients carried the W1327X mutation. Eight of them were from six unrelated families and they were originated from Mahdia (centre of Tunisia) suggesting the existence of a founder effect in this region. Taking into account historical migratory waves, screening for this mutation should be performed in priority for molecular diagnosis confirmation of GSD III in North African populations.
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- 2012
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12. [Gaucher disease type 1 in late onset].
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Mseddi S, Kallel F, Jedidi I, Ben Rhouma F, Kassar O, Ajmi N, Mdhaffar M, Bellaaj H, Kallel C, Boudawara T, Abdelhak S, and Elloumi M
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- Adult, Aged, Female, Humans, Male, Middle Aged, Splenomegaly etiology, Gaucher Disease diagnosis
- Published
- 2012
13. Gaucher disease in Tunisia: High frequency of the most common mutations.
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Cherif W, Ben Turkia H, Ben Rhouma F, Riahi I, Chemli J, Kefi R, Messai H, Amaral O, Miranda MC, Caillaud C, Tebib N, Ben Dridi MF, and Abdelhak S
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- Alleles, Female, Genotype, Humans, Male, Tunisia epidemiology, Gaucher Disease epidemiology, Gaucher Disease genetics, Glucosylceramidase genetics, Mutation
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- 2009
- Full Text
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14. [Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous].
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Cherif W, Ben Turkia H, Tebib N, Amaral O, Ben Rhouma F, Abdelmoula MS, Azzouz H, Caillaud C, Sà Miranda MC, Abdelhak S, and Ben Dridi MF
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- Adolescent, Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Electrophoresis, Polyacrylamide Gel, Exons genetics, Female, Genetic Carrier Screening, Genetic Counseling, Genetic Testing, Genetics, Population, Heterozygote, Humans, Male, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Tunisia epidemiology, Gaucher Disease epidemiology, Gaucher Disease genetics, Gene Frequency genetics, Mutation genetics
- Abstract
Gaucher disease is the most common lysosomal storage disorder, it results from the inherited deficiency of the enzyme glucocerebrosidase, the accumulation of its substrate causes many clinical manifestations. Since the discovery of GBA gene, more than 200 different mutations have been identified, but only handful mutations are recurrent (N370S, L444P and c.84insG). In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in ten unrelated Tunisian children with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing, has shown that N370S is the most frequent mutation (6/20 mutant alleles, 30%), followed by recombinant allele (RecNciI) which is found in five patients (5/20 mutant alleles, 25%), the L444P mutation represent 20% (4/20 mutant alleles). Our findings revealed that five among ten studied patients, were compound heterozygous N370S/RecNciI (50%). The screening of these mutations provides a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allows also genetic counselling for their family members.
- Published
- 2007
15. [Alternative medicine and dermatology].
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Aissa Ben Rhouma F, Zeglaoui F, and Kamoun MR
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- Humans, Complementary Therapies, Skin Diseases therapy
- Abstract
Alternative medicine is more popular than ever before and Dermatology has not remained unaffected by this trend. The aim of this review was to summarise all surveys of dermatological patients regarding the usage of alternative medicine to assess the potential efficacy of alternative medicine and to understand the reasons for which patients use alternative therapies. Computarized literature search was performed in medline. The search terms were "alternative medicine", "skin" and the name of different alternative therapies. Numerous studies have been practiced and published but few randomised controlled trials have been carried out. Greater knowledge of alternative medicine and its philosophical background and practical uses should result in better care for our patients and stimulate clinical research that will allow further consideration of its appropriate use and better evaluation of its possible danger.
- Published
- 2005
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