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1.
Transfus Clin Biol ; 2024 Jun 07.
Article in English | MEDLINE | ID: mdl-38852712

ABSTRACT

BACKGROUND: The World Health Organization advocates for the achievement of 100% voluntary non-remunerated blood donation (VNRD) globally by the year 2020. However, until today, little was known in Lebanon regarding its actual rate or influencing factors, particularly donor motivations and behaviors. Therefore, the aim of this study was to assess the knowledge, attitudes, and practices of blood donors in Lebanon. The ultimate goals were to retain first-time donors, encourage them to become regular ones, and facilitate the transition from replacement donation to VNRD. MATERIALS AND METHODS: A multi-centric cross-sectional study was carried across the five governorates in Lebanon. A self-administered and structured questionnaire was used in this survey. Results were presented in terms of odds ratios, with statistical significance defined at a P value of 0.05 and a 95% confidence interval. Additionally, a benchmarking analysis of the situation of blood donation in Lebanon was also conducted, identifying several areas for improvement. RESULTS: A total of 620 blood donors participated in this study, with 21.3% being first-time donors and 78.7% repeat donors. While the latter were primarily motivated by self-esteem, solidarity or returning a favor (89%, 77.9% and 78.1%), the main obstacle for becoming regular donors was a lack of initiative (34.6%). Female donors (9.9% of the total) exhibited better knowledge (OR= 2.20, p=0.011) and were more inclined to donate voluntarily (OR= 1.52, p=0.048). Conversely, male donors were more likely to be repeat donors, often through replacement donation (OR= 2.95, p=0.001). CONCLUSION: There is a significant disparity between the low rate of voluntary donation in Lebanon (22.2%) and the relatively high proportion of donors with adequate knowledge of the donation process (60.5%). Therefore, urgent action by public authorities, based on the evidence based strategies outlined in this article, is crucial to enhancing the voluntary donation rate in Lebanon.

2.
Transfus Apher Sci ; 62(2): 103616, 2023 Apr.
Article in English | MEDLINE | ID: mdl-36470725

ABSTRACT

To determine the existence of guidelines regarding the appropriate clinical use of blood and blood components, transfusion requests, and blood issuing/reception documents and procedures. The different bedside transfusion organizations/processes and hemovigilance are also analyzed. The ultimate objective is to identify safe potential options in order to improve blood safety at the lowest cost. Data emanating from eight Arabic eastern/southern Mediterranean countries who responded to five surveys were collected and tabulated. National recommendations for the clinical use of blood components especially for hemoglobinopathies are lacking in some countries. In matter of good practices in the prescription, issuing and reception of BCs, efforts were made either on national or local basis. Procedures regarding patient information and ethical issues are still lacking. Almost all Mediterranean countries apply two blood testing procedures on each patient sample. Only Morocco, Tunisia and Algeria perform bed side blood group testing; Egypt and Lebanon perform antibody screen and antiglobulin cross matching universally. Automation for blood testing is insufficiently implemented in almost all countries and electronic release is almost absent. National hemovigilance policy is implemented in Tunisia, Morocco, and Lebanon but the reporting system remains inoperative. Insufficient resources severely hinders the implementation of expensive procedures and programs; however, the present work identifies safe procedures that might save resources to improve other parts in the transfusion process (e.g. electronic release to improve safety in issuing). Moreover, setting up regulations regarding ethics in transfusing recipients along with local transfusion committees are crucially needed to implement hemovigilance in transfusion practice.


Subject(s)
Benchmarking , Blood Transfusion , Humans , Follow-Up Studies , Blood Component Transfusion , Egypt
3.
Parasite ; 29: 11, 2022.
Article in English | MEDLINE | ID: mdl-35225786

ABSTRACT

BACKGROUND: Documented trichinellosis outbreaks in Lebanon date back to the late 19th century. The first published outbreaks were attributed to the consumption of wild boar meat, while those that followed incriminated pork. The practice of hunting wild boar is currently re-emerging in Lebanon given the recent economic crisis that has limited the purchase of livestock meat. RESULTS: In Lebanon, at least 15 outbreaks of trichinellosis have been reported since 1870. We report an outbreak in January 2019, where five of the fifteen people present at a barbecue party were diagnosed with trichinellosis after wild boar meat consumption. Two subspecies of wild boar, Sus scrofa libycus and Sus scrofa scrofa, are commonly targeted by hunters. Hunters and consumers are sometimes unaware of the ineffectiveness of freezing meat and cooking over a wood fire to avoid trichinellosis. Unexpectedly, the National Center for Zoonosis Control receives every year 4 samples of wild boar meat, all free of Trichinella sp. larvae. CONCLUSION: Trichinellosis, a zoonosis typically unrecognized or undeclared, still represents a risk linked to the consumption of meat from wild animals, especially wild boar. Consumers, hunters, veterinarians, and butchers need to be further educated. Government regulation of wild boar hunting should be implemented to prevent further outbreaks.


TITLE: La réémergence de la pratique de la chasse au sanglier liée à la récente crise économique pourrait-elle conduire à de nouveaux foyers de trichinellose au Liban ? ABSTRACT: Contexte : Les épidémies de trichinellose sont documentées au Liban depuis la fin du XIXème siècle. Les premiers foyers publiés étaient attribués à la consommation de viande de sanglier, tandis que ceux qui suivirent incriminaient le porc. La pratique de la chasse au sanglier est en train de réapparaître au Liban compte tenu de la récente crise économique qui a limité l'achat de viande de bétail. Résultats : Au Liban, au moins 15 foyers de trichinellose ont été signalés depuis 1870. Nous rapportons un foyer en janvier 2019, où cinq des quinze personnes présentes à une soirée barbecue ont reçu un diagnostic de trichinellose après consommation de viande de sanglier. Deux sous-espèces de sangliers, Sus scrofa libycus et Sus scrofa scrofa, sont couramment ciblées par les chasseurs. Les chasseurs et les consommateurs ignorent parfois l'inefficacité de la congélation de la viande et de la cuisson au feu de bois pour éviter la trichinellose. De manière inattendue, le Centre National de Contrôle des Zoonoses reçoit chaque année 4 échantillons de viande de sanglier, tous indemnes de larves de Trichinella spp. Conclusion : La trichinellose, zoonose généralement méconnue ou non déclarée, représente toujours un risque lié à la consommation de viande d'animaux sauvages, notamment de sanglier. Les consommateurs, les chasseurs, les vétérinaires et les bouchers doivent être mieux formés. Des réglementations gouvernementales sur la chasse au sanglier devraient être mises en œuvre pour prévenir de nouvelles épidémies.


Subject(s)
Trichinella , Trichinellosis , Animals , Disease Outbreaks/veterinary , Economic Recession , Humans , Hunting , Lebanon/epidemiology , Meat , Sus scrofa , Swine , Trichinellosis/epidemiology , Trichinellosis/veterinary
4.
East Mediterr Health J ; 26(6): 736-743, 2020 Jun 24.
Article in English | MEDLINE | ID: mdl-32621510

ABSTRACT

BACKGROUND: Lebanon has a decentralized/fragmented transfusion system. The current blood supply does not meet the World Health Organization target of achieving 100% voluntary non-remunerated blood donation (VNRD). There are currently 3 types of donors/donations in Lebanon: replacement/family donations (70-75%), VNRD (20-25%), and compensated donations (5-10%). Remunerated donations are illegal. AIMS: This report summarizes the content of presentations given during the first World Blood Donor Day seminar in Lebanon in June 2017. The aim is to describe the current Lebanese blood supply system and the major road blocks and to suggest practical recommendations that may assist in achieving 100% VNRD. METHODS: The content of presentations given during the first World Blood Donor Day seminar in Lebanon in June 2017 were summarized. RESULTS: The seminar was attended by all major stakeholders involved in transfusion medicine (Lebanese National Committee of Blood Transfusion, Hospital Blood Banks directors, Lebanese Army Blood Bank, Lebanese Red Cross and Donner Sang Compter). CONCLUSIONS: The Ministry of Public Health should focus on performing regular audits regarding the implementation of national guidelines. There is a need for a national blood supply committee, unifying all stakeholders in the transfusion and donation fields. Transfusion medicine should be declared by law as a public health issue and considered a priority for patient safety.


Subject(s)
Blood Banks , Blood Donors/supply & distribution , Blood Safety , Blood Transfusion , Congresses as Topic , Humans , Lebanon
5.
Vox Sang ; 115(5): 405-423, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32124457

ABSTRACT

BACKGROUND AND OBJECTIVES: Blood transfusion is inherently associated with risks, and little is known regarding the available quality and safety measures in developing countries. No studies or census has been carried out, and therefore, no data on this compelling issue are available. MATERIALS AND METHODS: Data emanating from eight Arabic eastern/southern Mediterranean countries who responded to five surveys were collected and tabulated. RESULTS: Asepsis during phlebotomy, screening for serological and immuno-haematological parameters and appropriate storage conditions are maintained across all countries. Variations in blood component processing exist. Universal leucoreduction is systematically applied in Lebanon. Nucleic acid testing is only performed in Egypt. Aphaeresis procedure, leucoreduction and quality control for blood components are virtually inexistent in Mauritania. Written donor questionnaire is absent in Algeria and Tunisia. Most donor deferral periods for infectious agents are inconsistent with international standards. CONCLUSION: Gaps in the processing and in the quality/safety measures applied to the manufacture of blood components are quite evident in most eastern/southern Mediterranean countries. The decision of establishing an effective collaboration network and an independent body - aside from WHO - composed of specialists that oversees all transfusion activities in these countries is certainly a crucial step towards ensuring an optimum level of blood safety.


Subject(s)
Blood Transfusion/standards , Mass Screening , Africa, Northern , Humans , Lebanon , Mediterranean Region , Patient Safety , Quality Assurance, Health Care
6.
Transfus Med ; 30(1): 7-15, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31916347

ABSTRACT

OBJECTIVES: To outline and analyse the national organisation, infrastructure and management of transfusion systems in countries sharing common historical, cultural and economic features and to decipher management trends, in order to potentially benchmark. BACKGROUND: Little is known regarding transfusion systems in Eastern/southern Mediterranean at a time international organisations are calling for the establishment of a safe and sustainable blood system. MATERIALS AND METHODS: Data emanating from eight Arabic-speaking Eastern/Southern Mediterranean countries who responded to five surveys were collected and tabulated. RESULTS: While similarities in terms of supervision by national authorities, authorization of blood centres, quality control and management information system are evident, some significant divergence between these countries do exists. Only Lebanon does not possess a national blood establishment or organisation for blood supply. Blood components are fully government-subsidised in Algeria and Mauritania. Algeria, Morocco and Tunisia have a blood supply that relies mainly on Voluntary non-remunerated donors. Plateletpheresis is performed in all countries except Mauritania while plasmapheresis exists only in Algeria and Egypt. Morocco is the sole country outsourcing its plasma for Plasma derived products. CONCLUSION: Despite the various challenges facing these countries, lot of progresses have been made so far in the field of transfusion medicine. Yet, nationally coordinated blood programs overviewed by national regulatory authorities and actively supported by local governments are still needed to ensure the optimum level of blood safety.


Subject(s)
Blood Safety , Blood Transfusion , Delivery of Health Care , Africa, Northern , Delivery of Health Care/organization & administration , Delivery of Health Care/standards , Developing Countries , Humans
7.
Int J Health Plann Manage ; 33(4): e883-e891, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30052280

ABSTRACT

Voluntary nonremunerated donation stands for the framework of a solid, safe, and sustainable blood supply; for this reason, the World Health Organization has set a goal toward achieving 100% voluntary nonremunerated blood donation in 2020. However, in Lebanon like in most developing countries, the majority of blood donations still come from family/replacement donors (around 75%) followed by voluntary donors for only 15%; compensated donors yet account for 10% of blood donations. Lebanon has a decentralized and fragmented blood supply system where private health care facilities predominate over the public system; thus, numerous challenges and roadblocks-that are discussed in this article-are likely to delay the fulfillment of the WHO resolution. By properly addressing (and resolving) those caveats, it should be expected that Lebanon can forecast achieving (or at least getting close to) 100% voluntary nonremunerated blood donation within the next decade.


Subject(s)
Blood Donors , Politics , Blood Banks/organization & administration , Blood Banks/statistics & numerical data , Blood Donors/statistics & numerical data , Costs and Cost Analysis , Humans , Lebanon , Organizations , Voluntary Programs/organization & administration , Volunteers/psychology
8.
Front Med (Lausanne) ; 5: 45, 2018.
Article in English | MEDLINE | ID: mdl-29536009

ABSTRACT

Unlike their Western counterparts, some of the Eastern/Southern Mediterranean countries lack centralized coordinated blood transfusion services leading to an unequal blood safety level. This was recently highlighted by a recent World Health Organization (WHO) regional committee report in which WHO urges these countries to establish and implement a national blood system with well-coordinated blood transfusion activities and to make attempts to reach 100% voluntary non-remunerated blood donation. The objective is thus to meet the same levels or standards as Western countries in term of self-sufficiency and blood safety. This raises the question whether these countries can either comply with Western countries' guidelines and experiences or develop their own safety scheme based on proper sociopolitical and economic features. Another option is to identify efficient and cost-effective strategies setup successfully in neighbor countries sharing cultural and economic features. To address this issue-and make an attempt to achieve this goal-we designed a number of surveys specifically addressed to Mediterranean countries, which were sent out to the national authorities; so far, five surveys aim at covering all aspects in blood collection, processing, testing, inventory and distribution, as well as patient immune-hematological testing and follow-up (including surveillance and vigilances). It is anticipated that such practice can help identifying and then sharing the more successful and cost-effective experiences, and be really focused on Mediterranean areas while not necessarily copying and pasting experiences designed for Western/Northern areas with significantly distinct situations.

9.
J Comorb ; 7(1): 79-88, 2017.
Article in English | MEDLINE | ID: mdl-29090191

ABSTRACT

BACKGROUND: Coronary heart disease (CHD) is a leading cause of premature death in patients with schizophrenia. CHD risk in Lebanese patients with schizophrenia remains unknown. OBJECTIVES: To (i) evaluate CHD risk of patients with schizophrenia in Lebanon; and (ii) detect the modifiable and non-modifiable factors affecting this risk. METHODS: Cross-sectional study of 329 patients with schizophrenia aged 20-75 years. Ten-year hard CHD risk was calculated using the Framingham risk score. A logistic regression was conducted taking the dichotomous hard CHD (<10% and ≥10%) as the dependent variable. RESULTS: Ten-year hard CHD risk was low (<10%) in 60.8% of patients, intermediate (10-20%) in 31.6%, and high (>20%) in 7.6%. Multivariate analysis showed that the mean 10-year hard CHD risk was 8.76±6.92 (10.82±6.83 in men and 3.18±2.90 in women). Ten-year hard CHD risk was higher in patients with the metabolic syndrome (odds ratio [OR] 2.67, confidence interval [CI] 1.54-4.64), a longer duration of schizophrenia (OR 1.03, CI 1.01-1.05), a history of other medical illnesses (OR 2.02, CI 1.18-3.47), and in those participating in art therapy (OR 2.13, CI 1.25-3.64) or therapeutic education (OR 1.93, CI 0.93-4.01). Ten-year hard CHD risk was lower in patients receiving risperidone (OR 0.23, CI 0.08-0.68), any anti-epileptic (OR 0.41, CI 0.24-0.73), or any benzodiazepine (OR 0.33, CI 0.17-0.66) medication. CONCLUSION: CHD is prevalent in patients with schizophrenia in Lebanon. Physicians are recommended to monitor the components of the metabolic syndrome to identify patients with increased risk of cardiovascular diseases.

10.
Anticancer Res ; 37(9): 4759-4766, 2017 09.
Article in English | MEDLINE | ID: mdl-28870894

ABSTRACT

One of the contributory causes of colon cancer is the negative effect of reactive oxygen species on DNA repair mechanisms. Currently, there is a growing support for the concept that oxidative stress may be an important etiological factor for carcinogenesis. The purpose of this review is to elucidate the role of oxidative stress in promoting colorectal carcinogenesis and to highlight the potential protective role of antioxidants. Several studies have documented the importance of antioxidants in countering oxidative stress and preventing colorectal carcinogenesis. However, there are conflicting data in the literature concerning its proper use in humans, since these studies did not yield definitive results and were performed mostly in vitro on cell populations, or in vivo in experimental animal models.


Subject(s)
Antioxidants/pharmacology , Carcinogenesis/pathology , Colorectal Neoplasms/pathology , Oxidative Stress , Reactive Oxygen Species/metabolism , Animals , Carcinogenesis/drug effects , Humans , Oxidative Stress/drug effects
11.
SAGE Open Med ; 5: 2050312117712886, 2017.
Article in English | MEDLINE | ID: mdl-28611919

ABSTRACT

OBJECTIVES: Arterial stiffness is becoming a major global condition associated with an increased risk of cardiovascular problems and death. Several markers have been linked to arterial stiffness. METHODS: To determine and evaluate these relations, anthropometric parameters (weight, height, and pulse rate), biochemical profile, and central and peripheral indices of arterial function were measured in 114 Lebanese subjects with Grade I essential hypertension. RESULTS: Age was associated with a higher pulse wave velocity (p = .001), central systolic blood pressure (p = .013), central pulse pressure (p = .028), central augmentation index (p ≤ .0001) with a lower heart rate (p = .08), and glomerular filtration rate (p = .019). Pulse wave velocity was found to be higher in older subjects (>65 years) and correlated with higher body mass index (r = .85) independent of age. Aging also correlated with higher plasma glucose and alterations in calcium-phosphorus metabolism. CONCLUSION: Aging is associated with increased arterial stiffness which is reflected by an increase in the pulse wave velocity, augmentation index, central pulse pressure, and central systolic blood pressure with a reduction in heart rate. Also, a higher body mass index and a lower estimated glomerular filtration rate (< 60 mL/min/1.73 m2) are associated with increased arterial stiffness while calcium and phosphorus metabolism may play a role by promoting vascular calcification.

12.
J Public Health Policy ; 38(3): 359-365, 2017 Aug.
Article in English | MEDLINE | ID: mdl-28479593

ABSTRACT

Lebanon has adopted a liberal economic system that also applies to healthcare procurement. There is no national Lebanese blood transfusion service and the blood supply is divided between a large number of licensed (45 per cent) and unlicensed (55 per cent) blood banks, many of them issuing a very limited number of blood components. All blood banks are hospital based and operate the entire transfusion chain, from collection to the release of blood units. Blood donation is voluntary and non-remunerated in 20-25 per cent of donations; it relies principally on replacement donations. Recently, Lebanon has faced political instability and war, and now welcomes an enormous number of refugees from neighboring countries at war. This has had an important impact on heath care and on the transfusion supply. We discuss the impact of the blood donation organization on the transfusion safety and ethics, to set the foundation for a more developed and safer transfusion programs.


Subject(s)
Blood Donors , Blood Safety , Politics , Blood Donors/statistics & numerical data , Blood Safety/methods , Blood Transfusion/statistics & numerical data , Humans , Lebanon
13.
Article in English | MEDLINE | ID: mdl-27812084

ABSTRACT

BACKGROUND: Microbiota refers to the population of microorganisms (bacteria, viruses and fungi) that inhabit the entire gastrointestinal tract, more particularly the colon whose role is to maintain the integrity of the intestinal mucosa and control the proliferation of pathogenic bacteria. Alteration in the composition of the gut microbiota is called dysbiosis. Dysbiosis redisposes to inflammatory bowel diseases such as ulcerative colitis, Crohn disease and indeterminate colitis. METHODS: The purpose of this literature review is to elucidate the influence of diet on the composition of the gastrointestinal microbiota in the healthy gut and the role of diet in the development of dysbiosis. CONCLUSION: The "Western diet", in particular a low - fiber high fat/high carbohydrate diet is one factor that can lead to severe dysbiosis. In contrast, "mediterranean" and vegetarian diets that includes abundant fruits, vegetables, olive oil and oily fish are known for their anti-inflammatory effects and could prevent dysbiosis and subsequent inflammatory bowel disease.


Subject(s)
Diet , Dysbiosis/etiology , Gastrointestinal Microbiome/physiology , Inflammatory Bowel Diseases/etiology , Dysbiosis/diet therapy , Humans , Nutritional Status/physiology , Oxidative Stress/physiology
14.
PLoS One ; 9(9): e106948, 2014.
Article in English | MEDLINE | ID: mdl-25233259

ABSTRACT

Alkaptonuria is often diagnosed clinically with episodes of dark urine, biochemically by the accumulation of peripheral homogentisic acid and molecularly by the presence of mutations in the homogentisate 1,2-dioxygenase gene (HGD). Alkaptonuria is invariably associated with HGD mutations, which consist of single nucleotide variants and small insertions/deletions. Surprisingly, the presence of deletions beyond a few nucleotides among over 150 reported deleterious mutations has not been described, raising the suspicion that this gene might be protected against the detrimental mechanisms of gene rearrangements. The quest for an HGD mutation in a proband with AKU revealed with a SNP array five large regions of homozygosity (5-16 Mb), one of which includes the HGD gene. A homozygous deletion of 649 bp deletion that encompasses the 72 nucleotides of exon 2 and surrounding DNA sequences in flanking introns of the HGD gene was unveiled in a proband with AKU. The nature of this deletion suggests that this in-frame deletion could generate a protein without exon 2. Thus, we modeled the tertiary structure of the mutant protein structure to determine the effect of exon 2 deletion. While the two ß-pleated sheets encoded by exon 2 were missing in the mutant structure, other ß-pleated sheets are largely unaffected by the deletion. However, nine novel α-helical coils substituted the eight coils present in the native HGD crystal structure. Thus, this deletion results in a deleterious enzyme, which is consistent with the proband's phenotype. Screening for mutations in the HGD gene, particularly in the Middle East, ought to include this exon 2 deletion in order to determine its frequency and uncover its origin.


Subject(s)
Alkaptonuria/genetics , Homogentisate 1,2-Dioxygenase/genetics , Sequence Deletion/genetics , Base Sequence , Child , Humans , Molecular Sequence Data , Polymorphism, Single Nucleotide , Protein Structure, Tertiary , Sequence Analysis, DNA
15.
J Med Liban ; 62(4): 203-6, 2014.
Article in English | MEDLINE | ID: mdl-25807717

ABSTRACT

INTRODUCTION: Pruritus ani is a common medical condition that is difficult to treat in the absence of obvious predisposing factors. Hereby, we report more than a ten-year experience in the management of pruritus ani stressing the importance of early detection, identification of the etiology, and management. METHODOLOGY: A total of 124 patients were managed in the surgical clinic. The follow-up was between 11 to 17 months. All patients had the symptoms for a period of time ranging between 6 and 40 months. Patients were treated according to their respective etiology. Medical cases like contact dermatitis and psoriasis were treated by applying proper topical ointments, while other cases like anal fissure and fistula were treated surgically. Idiopathic patients were treated by tattooing (injection to perianal skin with methylene blue). RESULTS & DISCUSSION: The majority of patients with known medical etiology responded favorably to conservative treatment (≈ 92%). In addition, surgical management for anorectal disorders like hemorrhoids and fistula showed a consistent improvement (94%). However, patients who had their symptoms neglected for longtime or had used over the counter medication without a proper medical follow-up, experienced a lower success rate of cure (76%). CONCLUSION: Patients who were diagnosed and treated at first hand, showed better results than those who sought late medical advice and management (i.e. > 18 months). In light of the above, a multidisciplinary team approach consisting of a proctologist, a gastroenterologist and a dermatologist is recommended.


Subject(s)
Pruritus Ani/etiology , Pruritus Ani/therapy , Adult , Aged , Female , Humans , Lebanon/epidemiology , Male , Middle Aged , Pruritus Ani/epidemiology
16.
J Public Health Policy ; 34(4): 515-27, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23965470

ABSTRACT

In transfusion medicine today, 'zero risk' has become a universal objective. Thus, we investigated whether the level of blood safety as defined by Lebanese legislation is satisfactory. Our work covered the period from September 2008 to June 2012. First, we studied each chapter in law and regulations, and compared them with the latest French regulations. The standards of Good Manufacturing Practice, characteristics of blood products and their storage, and the overall organization and haemovigilance for recipients and donors are not defined. Our analysis revealed numerous problems in today's blood safety situation. There is, for example, no clear definition or identification of the different blood safety components. Then, we conducted a national survey of blood bank directors to assess their perception of blood safety in Lebanon. Our survey revealed a negative perception (52.4 per cent) of the current blood safety situation, with more than 90 per cent of respondents in favor of national regulatory improvements.


Subject(s)
Blood Banks/legislation & jurisprudence , Blood Component Transfusion/legislation & jurisprudence , Blood Safety , Public Policy/legislation & jurisprudence , France , Humans , Lebanon , Surveys and Questionnaires
17.
BMJ Case Rep ; 20132013 Apr 29.
Article in English | MEDLINE | ID: mdl-23632174

ABSTRACT

Pompe disease is characterised by deficiency of acid α-glucosidase that results in abnormal glycogen deposition in the muscles. Alkaptonuria is caused by a defect in the enzyme homogentisate 1,2-dioxygenase with subsequent accumulation of homogentisic acid. We report the case of a 6-year-old boy diagnosed with Pompe disease and alkaptonuria. Urine organic acids and α-glucosidase were measured. Homogentisate 1,2-dioxygenase (HGO) and acid alpha-glucosidase (GAA) genes were sequenced by Sanger DNA sequencing. The level of α-glucosidase in white blood cells was markedly decreased (4 nm/mg) while the level of homogentisic acid was markedly increased (15 027 mmol/mol creatine). GAA sequencing detected two heterozygous GAA mutations (C.670C>T and C.1064T>C) while HGO sequencing revealed three polymorphisms in exons 4, 5 and 6, respectively. To the best of our knowledge, this is the first reported instance of Pompe disease and alkaptonuria occurring in the same individual.


Subject(s)
Alkaptonuria/genetics , Glycogen Storage Disease Type II/genetics , Alkaptonuria/diagnosis , Child , Glycogen Storage Disease Type II/diagnosis , Humans , Male , Pedigree
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