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1.
Clin Lab ; 70(5)2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38747917

RESUMO

BACKGROUND: Hyperthyroidism can lead to diverse hematological disorders, such as microcytosis and a mild increase in hemoglobin A2 fraction. METHODS: This study reported a 31-year-old woman of Moroccan origin recently diagnosed with Graves' disease. Her blood tests revealed microcytosis, hypochromia, and a normal ferritin level. A phenotypic analysis of hemo-globin was performed using two techniques: capillary electrophoresis and reversed-phase high performance liquid chromatography. RESULTS: Both techniques indicated a slight increase in hemoglobin A2 level. These results initially suggested het-erozygous beta-thalassemia, eventually correlating with the concurrent presence of Graves' disease, as evidenced by the normalization of hemoglobin A2 level following treatment. CONCLUSIONS: This case highlights the importance of having clinical, biological, and therapeutic data for a relevant interpretation of a phenotypic hemoglobin study.


Assuntos
Doença de Graves , Hemoglobina A2 , Humanos , Doença de Graves/sangue , Doença de Graves/diagnóstico , Doença de Graves/complicações , Feminino , Adulto , Hemoglobina A2/análise , Talassemia beta/sangue , Talassemia beta/complicações , Talassemia beta/diagnóstico , Eletroforese Capilar/métodos , Cromatografia Líquida de Alta Pressão , Fenótipo
2.
Clin Lab ; 69(4)2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37057941

RESUMO

BACKGROUND: We report a case of a patient with immunoglobulin A multiple myeloma associated with a masked kappa light chain. Serum immunofixation showed a monoclonal band in the IgA heavy chain lane without corre-spondence with the light chain and a monoclonal band in total kappa light chain lane without correspondence with the heavy chain. METHODS: To distinguish between heavy chain disease and immunoglobulin with "masked" light chains, two tubes containing the patient's serum were incubated with a very high concentration of anti-total kappa and anti-total lambda antisera for 48 hours at 4°C in order to facilitate immunoprecipitation of the involved light chain. After centrifugation, the supernatant was analyzed by using the IFs method on the Hydrasys 2 Scan Focusing Sebia® without dilution. Then we applied the anti-IgA, anti-total kappa and anti-total lambda antisera. RESULTS: The serum immunofixation test of the sample treated with a high concentration of anti-total kappa showed the disappearance of the monoclonal bands corresponding to IgA heavy chain lane and kappa light chain lane, indicating that precipitation had occurred and that the IgA did have kappa light chains that could not be detected by the standard immunofixation protocol. The serum immunofixation test of the sample treated with anti-total lambda showed the disappearance of the polyclonal background in lambda light chain lane, confirming that the precipitation with lambda light chains according to the previously mentioned protocol has done well. CONCLUSIONS: This case illustrates some of the difficulties encountered and the corrective actions that can be taken for the detection of immunoglobulins with masked light chains.


Assuntos
Imunoglobulina A , Mieloma Múltiplo , Humanos , Cadeias kappa de Imunoglobulina , Cadeias lambda de Imunoglobulina , Mieloma Múltiplo/diagnóstico , Testes Imunológicos , Cadeias Leves de Imunoglobulina
3.
Clin Lab ; 68(7)2022 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-35975543

RESUMO

BACKGROUND: We report the case of a monoclonal immunoglobulin of IgM Lambda isotype associated with monoclonal lambda-type free light chains not detected by capillary electrophoresis but identified by immunofixation. METHODS: Capillary electrophoresis showed hypoproteinemia and an inflammatory syndrome. The IF realized on Hydrasys 2 Scan Focusing Sebia® reveals an IgM monoclonal band and two monoclonal bands in the total lambda. A second IF is performed using anti IgM, anti IgD, anti IgE and anti-total and -free lambda light chains as antisera. It reveals the presence of a monoclonal protein isotype IgM Lambda with free light chains. In view of these discordant results, an immunosubtraction was performed on the same sample showing no abnormality. RESULTS: Our patient has a monoclonal IgM Lambda with lambda monoclonal free light chains all masked on capillary electrophoresis and therefore not detected. CONCLUSIONS: Capillary electrophoresis techniques are incrementally becoming the techniques of choice in medical laboratories as a replacement for gel electrophoresis, due to their automation and better sensitivity. However, in some cases, a monoclonal immunoglobulin may not be detected by capillary technique and may cause an inaccurate interpretation.


Assuntos
Cadeias Leves de Imunoglobulina , Paraproteinemias , Anticorpos Monoclonais , Eletroforese Capilar/métodos , Humanos , Imunoeletroforese/métodos , Cadeias kappa de Imunoglobulina , Cadeias lambda de Imunoglobulina , Paraproteinemias/diagnóstico
4.
Clin Lab ; 67(4)2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33865253

RESUMO

BACKGROUND: We report a case of pseudo-hyperchloremia in a patient hospitalized in the dermatology department at the Mohammed V Military Hospital of Instruction in Rabat. The examination revealed self-medication with calcium bromo-galactogluconate, allowing the suspicion of an analytical interference on chloremia by bromides. METHODS: The determination of chloremia was done by indirect potentiometry on an Architect ci8200®. RESULTS: A biological assessment was carried out on admission, showed isolated hyperchloremia at 137 mmol/L (95 - 110 mmol/L), while the other electrolytes, the anion gap, and kidney function were normal. A follow-up electrolytes test one week after stopping calcium bromo-galactogluconate showed normalization of chloremia to 109 mmol/L. CONCLUSIONS: The analytical interference of bromides on the chloride assay causes pseudo-hyperchloremia, an analytical anomaly not very well-known by clinicians.


Assuntos
Brometos , Desequilíbrio Hidroeletrolítico , Cloretos , Hospitalização , Humanos
5.
Am J Forensic Med Pathol ; 42(3): 278-281, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-33136556

RESUMO

BACKGROUND: Atractylis gummifera L. is a poisonous thistle plant that grows in the Mediterranean regions especially in northern Africa like Morocco and southern Europe. It has been used frequently to treat some diseases in traditional medicine, and its ingestion is a common cause of fatal poisoning. Here, we report 3 death cases in children after accidental ingestion of the Atractylis gummifer L. CASES REPORTS: We report 3 cases of death in children after accidental ingestion of the poisonous plant Atractylis gummifer L. The poisoned children were admitted to hospital in deteriorated general state with clinical symptoms, such as nausea, vomiting, epigastric, and abdominal pain, diarrhea, followed by coma. However, they died a few hours later. The postmortem investigations were performed, and the diagnosis of Atractylis gummifer L. poisoning was confirmed by toxicological examination (chromatography), the latter showed the presence of atractyloside (potassium atractylate), a toxic compound of the plant Atractylis gummifera L.Atractylis gummifer L. poisoning was discussed with review through the literature. CONCLUSIONS: Through the presented cases, we show that Atractylis gummifera L. poisoning remains a health problem that involves children in Morocco, where the plant grows spontaneously. Thus, teaching children to recognize dangerous plants will be helpful to prevent accidental ingestion.


Assuntos
Atractylis/intoxicação , Dor Abdominal/induzido quimicamente , Acidentes , Injúria Renal Aguda/induzido quimicamente , Adolescente , Glicemia/análise , Criança , Creatina Quinase , Diarreia/induzido quimicamente , Feminino , Toxicologia Forense , Humanos , Falência Hepática Aguda/induzido quimicamente , Masculino , Marrocos , Náusea/induzido quimicamente , Tempo de Tromboplastina Parcial , Tempo de Protrombina , Vômito/induzido quimicamente
6.
Clin Lab ; 66(10)2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33073950

RESUMO

Hereditary xanthinuria was the first inherited purine metabolism disorder described. It is a rare pathology, which is most often asymptomatic and whose incidence is therefore underestimated. We report the case of a patient with an undetectable level of uric acid in the blood, discovered during a systematic biological assessment. This case report recalls the existence of this rare metabolic disorder, which is usually benign, but can lead to complications, and the importance of considering an abnormality of the purine cycle when discovering a hypo-uricemia.


Assuntos
Erros Inatos do Metabolismo da Purina-Pirimidina , Humanos , Erros Inatos do Metabolismo da Purina-Pirimidina/diagnóstico , Erros Inatos do Metabolismo da Purina-Pirimidina/genética , Ácido Úrico , Xantina
7.
Clin Lab ; 66(12)2020 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-33337841

RESUMO

BACKGROUND: We report a case of a multiple myeloma with light polymerized kappa chains, a phenomenon rarely described. METHODS: Capillary electrophoresis of serum proteins (Capillarys 2 Flex Piercing Sebia ®) revealed the presence of two migrant monoclonal peaks in the gamma globulin area and identified by immunosubtraction (IS) as light chain (LC) κ. These results suggest either the presence of a LCκ monoclonal IgD or IgE or the presence of a biclonal gammopathy or finally a LCκ polymerization. Serum immunofixation (IF) was carried out, after serum depolymerization with beta mercaptoethanol (BME), using as antiserum anti IgD, anti IgE and anti LCκ total and free LC κ. Capillary electrophoresis and IS were also repeated after serum treatment with BME. RESULTS: The depolymerization of our patient's serum showed the transformation of the two serum peaks into a single peak at the level of the κ light chains on both capillary electrophoresis and immunotyping techniques (IF and IS). CONCLUSIONS: Polymerization of kappa light chains is a rare phenomenon which can cause difficulty in the interpretation of the serum protein electrophoresis and immunotyping.


Assuntos
Mieloma Múltiplo , Paraproteinemias , Humanos , Cadeias Leves de Imunoglobulina , Cadeias kappa de Imunoglobulina , Mieloma Múltiplo/diagnóstico , Polimerização
8.
Clin Lab ; 65(1)2019 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-30775895

RESUMO

BACKGROUND: The authors report a clinical case where biological interference rendered the electrophoretic trace of serum proteins obtained by capillary electrophoresis as uninterpretable. METHODS: Electrophoresis of serum proteins and immunotyping immunoassay were performed on Capillary 2 Flex Piercing® Sebia. RESULTS: A 72-year-old male patient was hospitalized in the clinical hematology department for deep lymphadenopathies with hepatocellular failure. The biological assessment revealed chronic renal failure stage G3b, icteric cholestasis with alkaline phosphatase levels, and hepatic cytolysis. Electrophoresis of serum proteins showed a thickening at the base of albumin peak on its anodic slope but, in particular, it revealed the appearance of a super-numerary split peak between albumin and α1 globulins. These peaks made it impossible to identify and integrate peaks. Based on the clinical information, immunotyping immunoassay was performed on the same sample. The comparison of the different curves with the reference curve does not show any monoclonal immunoglobulinopathy but eliminates all the supernumerary peaks. Suspecting an interference, a Hydrasys 2 Scan® agarose gel electrophoresis (Sebia) was run on the same sample; however, it did not show qualitative anomalies interfering with identification and integration of all the peaks. CONCLUSIONS: Our clinical case emphasizes the importance of the knowledge of certain endogenous interferences that may be the origin of unusual images when interpreting electrophoretic profiles, especially in capillary electrophoresis.


Assuntos
Albuminas/análise , Proteínas Sanguíneas/análise , Eletroforese Capilar/métodos , Falência Renal Crônica/metabolismo , Idoso , Humanos , Falência Renal Crônica/diagnóstico , Masculino
9.
BMC Ophthalmol ; 17(1): 6, 2017 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-28100178

RESUMO

BACKGROUND: The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION: A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygous alpha thalassemia. His mother has Sickle cell anaemia (Hb SS) and his father is a carrier of heterozygous alpha-thalassemia status that it was unknown before. CONCLUSION: This case report describes a proliferative retinopathy in a 16 year-old patient with co-inheritance of heterozygous alpha + -thalassemia and sickle trait.


Assuntos
Doenças Retinianas/etiologia , Traço Falciforme/complicações , Talassemia/complicações , Adolescente , Angiofluoresceinografia , Humanos , Masculino , Traço Falciforme/genética , Talassemia/genética
10.
BMC Womens Health ; 15: 41, 2015 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-25968889

RESUMO

BACKGROUND: Vertebral Fractures (VFs) are associated with bone loss that occurs before menopause but is accelerated at menopause as a result of sex hormone deficiency. To determine the association of sex hormones, bone remodeling markers and vitamin D levels with bone mineral density (BMD) and asymptomatic VFs prevalence using vertebral fracture assessment (VFA) in a cohort of Moroccan menopausal women. METHODS: This was a cross-sectional study conducted from October 2012 to April 2013 with menopausal women aged 50 years old and over. A total of 207 women who had no previous diagnosis of osteoporosis were enrolled in this cross-sectional study. Women were recruited prospectively from our laboratory department. VFA images and scans of the lumbar spine and proximal femur were obtained using a GE Healthcare Lunar Prodigy densitometer. VFs were defined using a combination of Genant semiquantitative approach and morphometry. Serum levels of estradiol, dehydroepiandrosterone sulfate, Sex hormone binding globulin, vitamin D, Osteocalcin, Crosslaps, intact parathormone were measured by Electrochemiluminescent immunoassay technique. RESULTS: Among the 207 women, 18.3 % (n = 38) had densitometric osteoporosis. On VFA, VFs were detected in 134 (62.3 %), including 96 (44.6 %) grade 1 and 38 (17.6 %) grade 2/3. There was no difference in the plasma levels of sex steroids, bone remodeling markers and vitamin D in the group of women with VFs (grade 1 and grade 2/3) and without VFs. The combination of variables that best predicted grade 2/3 VFs included the number of years since menopause and the lumbar spine T-score. CONCLUSION: These data confirm the importance of postmenopausal estrogen and SHBG concentrations in the bone loss and the pathogenesis of osteoporosis in elderly women, but not in the occurrence of the VFs.


Assuntos
Hormônios Esteroides Gonadais/sangue , Osteoporose Pós-Menopausa , Pós-Menopausa/fisiologia , Fraturas da Coluna Vertebral , Vitamina D/sangue , Absorciometria de Fóton/métodos , Idoso , Densidade Óssea , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Marrocos/epidemiologia , Osteoporose Pós-Menopausa/sangue , Osteoporose Pós-Menopausa/complicações , Osteoporose Pós-Menopausa/diagnóstico , Osteoporose Pós-Menopausa/epidemiologia , Fraturas da Coluna Vertebral/epidemiologia , Fraturas da Coluna Vertebral/etiologia
12.
Ann Biol Clin (Paris) ; 81(3): 280-288, 2023 07 21.
Artigo em Inglês | MEDLINE | ID: mdl-37329151

RESUMO

The Estrogen receptor ß (ESR-ß) gene is suggested to have a growth inhibitory role in prostate tissue and was proposed as a new therapeutic target for prostate cancer (PCa). Precedent studies have investigated the association between the ESR-ß rs1256049 polymorphism and PCa but findings were inconsistent. Thus, this meta-analysis was performed to assess whether the ESR-ß rs1256049 polymorphism is associated with an increased susceptibility to PCa. Eligible studies published before February 5, 2022 were systematically searched in PubMed, Web of Science, ScienceDirect and Google Scholar databases. The sample set was extracted from 11 case-control studies involving 9390 cases and 10057 controls for the association between ESR-ß rs1256049 polymorphism and PCa susceptibility. In our overall meta-analysis, no significant association between rs1256049 and PCa risk was found under all genetic models. In subgroup analysis according to ethnicity, Asians, had a significantly decreased cancer risk based on both the heterozygote genetic model (OR = 0.75, 95% CI = [0.63, 0.89] P = 0.01) and the dominant model (OR = 0.80, 95% CI [0.69, 0.94] P = 0.01). For the Caucasian group, there was a significantly increased risk observed in the allelic model (OR = 1.17, 95% CI = [1.04, 1.32] P = 0.01), heterozygote model (OR = 1.15, 95% CI = [1.01, 1.31] P = 0.03) and the dominant model (OR = 1.17, 95% CI = [1.03, 1.32] P = 0.01). Our results demonstrate that ESR-ß r1256049 polymorphism may play a possible promising effect in PCa in Caucasians and a protective factor in Asians.


Assuntos
Receptor beta de Estrogênio , Neoplasias da Próstata , Humanos , Masculino , Estudos de Casos e Controles , Receptor beta de Estrogênio/genética , Predisposição Genética para Doença , Heterozigoto , Polimorfismo Genético , Polimorfismo de Nucleotídeo Único , Neoplasias da Próstata/diagnóstico , Neoplasias da Próstata/genética
13.
Iran J Public Health ; 52(11): 2260-2271, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38106826

RESUMO

Background: Accurate and non-invasive diagnostic and prognostic markers are necessary to improve patient outcomes. MicroRNAs have been proposed as relatively non-invasive and pertinent biomarkers. miR-93 has been studied for its potential as a diagnostic and prognostic marker in prostate cancer (PCa), but findings from individual studies are inconsistent. We conducted a meta-analysis of its overall differential expression in 13 PCa studies and a bioinformatics analysis to provide a comprehensive appraisal of its diagnostic and prognostic role. Methods: We searched all published papers on miR-93 expression in PCa up to Nov 30, 2022 using PubMed, Science Direct, Web of Science, Cochrane Central Register of Controlled Trials databases. We used RevMan software to Meta-analyze the included literature. A bioinformatics analysis of genes and pathways that might be target to the effect of the mature miR-93-5p was carried out. Results: The pooled standardized mean difference (SMD) of miR-93 expression in PCa, its area under the curve (AUC) and hazard ratio (HR) were 1.26, 95% CI [-0.34-2.86], 0.84, 95% CI [0.76 -0.93] and 1.67, 95% CI [0.98, 2.84] respectively. Bioinformatics analysis revealed that mature miR-93-5p may regulate genes such as SMAD1, SMAD7 and MAPK and the PI3K-Akt signaling pathways. Conclusion: miR-93 has significant diagnostic and prognostic value in PCa. These findings highlight the potential of miR-93 as a non-invasive biomarker for PCa and may contribute to earlier detection and prognostic assessment. The target genes and signaling pathways regulated by miR-93 may provide insights into the underlying molecular mechanisms of PCa.

14.
Ann Biol Clin (Paris) ; 70(1): 19-24, 2012.
Artigo em Francês | MEDLINE | ID: mdl-22294138

RESUMO

This transversal case study aimed at drawing the biological profile of sensitized patients consulting for respiratory allergies at Mohamed V Military Hospital-Rabat. One hundred four patients were included in the case study, who have benefitted from specialized medical consultation and those who came to the biochemistry laboratory holding a medical check-up prescription for allergy (NFS and biochemical check-up). The biochemical analysis were made up of TMA Phadiatop(®), correct proportioning of specific IgE serum, and complete IgE. The different anamnestic and clinical parameters acting upon the sensitization to respiratory allergens have been collected through a multiple choice question survey. Statistical analysis has been performed by a SPSS software version 13.0. The Phadiatop(®) was positive at 54.8% of our patients with a masculine predominance (H/F sex-ratio = 1.4). The recurring symptoms were the rhinitis (36.8%) and the asthma (10.5%). The allergen d1 Dermatophagoides pteronyssinus was the most incriminated pneumallergens (59.6%). For 19.3% of the patients sensitized, a polysensitization (superior to three) was noted, due to dust mite, cockroaches, pollen and animals. 93.6% of the Phadiatop(®) positive patient had a hypereosinophilia (p < 0.001). The complete IgE had been prescribed to 29 patients and had been increased among 19 patients in 66% of the cases. Among the patients having a rate of elevated complete IgE, 8 (42.1%) had a negative Phadiatop(®) (p = 0.019). Our survey showed the strong prevalence of the respiratory sensitization at our population. The allergen d1 is the most incriminated. It also put in evidence the weak diagnostic value of the dosage of the complete IgE in the respiratory allergy.


Assuntos
Hipersensibilidade Imediata/epidemiologia , Hipersensibilidade Respiratória/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alérgenos/imunologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos Transversais , Feminino , Hospitalização/estatística & dados numéricos , Hospitais Militares/estatística & dados numéricos , Humanos , Hipersensibilidade Imediata/diagnóstico , Hipersensibilidade Imediata/terapia , Imunoglobulina E/imunologia , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Prevalência , Hipersensibilidade Respiratória/diagnóstico , Hipersensibilidade Respiratória/terapia , Adulto Jovem
15.
Toxins (Basel) ; 14(11)2022 10 27.
Artigo em Inglês | MEDLINE | ID: mdl-36355985

RESUMO

The present study aimed to evaluate the acute and subacute toxicity profiles of Erodium guttatum extracts in mice using the methods described in the guidelines of the OECD. In the acute toxicity study, the LD50 value was greater than 2000 mg/kg. The subacute toxicity study of E. guttatum extracts showed no significant changes in body or organ weights. The administration of E. guttatum extracts to mice at a dose of 200 mg/kg led to an increase in white blood cells, platelets and hemoglobin. Moreover, the aqueous extract of E. guttatum only decreased liver aspartate aminotransferase (ASAT) levels at a dose of 200 mg/kg, and creatinine and urea levels did not show any significant alterations compared to the control group. Our results showed that the extracts of E. guttatum caused a slight increase in alanine aminotransferase (ALAT) and triglycerides. The histological study showed that mice treated with E. guttatum extracts experienced some histopathological changes in the liver, particularly with the methanolic extract, and slight changes in the kidneys and pancreas. Regarding the renal profile, no toxicity was observed. These results provide basic information on the toxicological profile of E. guttatum used in traditional medicine.


Assuntos
Extratos Vegetais , Roedores , Animais , Camundongos , Testes de Toxicidade Aguda , Extratos Vegetais/toxicidade , Dose Letal Mediana , Administração Oral
16.
Sante ; 21(1): 27-31, 2011.
Artigo em Francês | MEDLINE | ID: mdl-21700555

RESUMO

INTRODUCTION: Patients with end-stage renal disease (ESRD) receiving chronic hemodialysis show a high incidence and prevalence of cardiovascular disease of multifactorial etiology and an association between dyslipidemia and accelerated atherosclerosis. OBJECTIVE: Our aim was to study lipid profiles in ESRD patients receiving dialysis regularly at our hospital (Morocco).Subjects and methods : The patient population consisted of 30 ESRD patients on maintenance haemodialysis. Matched control subjects were recruited among healthy normolipidemic patients. Concentrations of triglycerides (TG), total cholesterol (TC), high-density-lipoprotein cholesterol (HDL-C) and low-density-lipoprotein cholesterol (LDL-C) were measured. The atherogenic index (AI = TC/HDL-C ratio) was calculated. RESULTS: The TG, the HDL-C levels and atherogenic index were significantly higher in groups of hemodialysis patients. We saw no increase in the levels of TC and LDL-C. The prevalence of dyslipidemia in hemodialysis group was high (80%). The most frequent lipid alterations were decreased HDL-C (70%), increased TG (33,3%) and increased LDL-C (23,3%); 50% of ESRD patients have more than two different dyslipidemic findings. AI was higher (≥ 5) in 33,3% of cases. CONCLUSION: The prevalence of dyslipidemia is higher than normal in ESRD patients on maintenance hemodialysis. Classically, these patients have had low levels of HDL-C and elevated TG levels. Strict control of dyslipidemia should be part of the cardiovascular risk prevention strategy in this population.


Assuntos
Colesterol/sangue , Diálise Renal , Triglicerídeos/sangue , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos
17.
Ann Biol Clin (Paris) ; 78(1): 61-69, 2020 02 01.
Artigo em Francês | MEDLINE | ID: mdl-32108581

RESUMO

Hemoglobin D-Punjab is a common hemoglobin variant in India but very rare in Morocco. Often, its presence has minimal or no clinical impact. Its heterozygous association with ß-thalassemia is exceptional. The purpose of the study is to describe the epidemiological, diagnostic and prophylactic aspects of hemoglobinosis D-Punjab from a family case study. MATERIAL AND METHODS: Case study of hemoglobinosis D-Punjab in a Moroccan family, diagnosed at the Laboratory of Biochemistry-Toxicology of the Mohammed V Military Teaching Hospital. The biological study was based on iron and hemolysis checkups, hemogram and study of hemoglobin (electrophoresis in alkaline and acid medium, high performance liquid chromatography). The index patient also benefited from sequencing by molecular biology. RESULTS: The index patient was heterozygous D-Punjab/ß0-thalassemia, confirmed by molecular biology. Two of her sisters had the same hemoglobin profile. At electrophoresis, all three had hemoglobin D-Punjab higher than 90%, hemoglobin A less than 1% and hemoglobin A2 higher than 6%. The results of the three hemograms showed similar abnormalities (pseudo-polycythemia, hypochromia, microcytosis, anisopoikilocytosis). Six other members of the family had a thalassemic trait and another three had heterozygous hemoglobinosis D-Punjab. CONCLUSION: Hemoglobin D-Punjab remains extremely rare in Morocco and very poorly documented in the literature. The number of reported cases is expected to raise due to increasing migration. Biologist advisory services require a precise diagnosis in order to give correct genetic counseling.


Assuntos
Hemoglobinas Anormais/genética , Talassemia beta/genética , Adolescente , Adulto , Criança , Família , Feminino , Estudos de Associação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos , Linhagem , Talassemia beta/sangue
18.
Pan Afr Med J ; 36: 361, 2020.
Artigo em Francês | MEDLINE | ID: mdl-33224427

RESUMO

Double heterozygosity SC is a major sickle cell syndrome. Its course may be marked by severe or irreversible complications, such as bone infarction. We here report the case of a 17-year-old patient presenting with compound heterozygous SC sickle cell disease following severe knee pain (gonalgia) in order to highlight the risk of delayed diagnosis as well as the need for prevention policies guiding early screening, thus improving patients' management and prognosis.


Assuntos
Anemia Falciforme/diagnóstico , Fêmur/patologia , Articulação do Joelho/patologia , Dor/etiologia , Adolescente , Anemia Falciforme/complicações , Humanos , Infarto/diagnóstico , Infarto/etiologia , Masculino , Marrocos , Prognóstico
19.
Clin Case Rep ; 6(1): 86-90, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29375844

RESUMO

We report the case of multiple myeloma of unexpected discovery in an old patient admitted to the emergency department of cardiomyopathy. This observation emphasizes the need for exploring any anemia before linking it to heart failure or kidney disease. Serum protein electrophoresis remains crucial especially in the elderly patients.

20.
Pan Afr Med J ; 29: 40, 2018.
Artigo em Francês | MEDLINE | ID: mdl-29875922

RESUMO

INTRODUCTION: This prospective study was conducted at the Laboratoy of Biochemistry of the HMIMV, Rabat, over a period of 1 year. It aimed to analyse the kinetics of troponin lc (cTnl) after on-pump cardiac surgery in order to establish threshold values for the diagnosis of perioperative myocardial infarction. METHODS: The study included 58 patients who had undergone on-pump valvular surgery or on-pump coronary artery bypass surgery. These patients were separated into 3 groups according to their clinical and electrical evolution as well as their laboratory tests (cTnI) during the immediate post-operative period. We batched and followed the kinetics of cTnl using immuno-enzymatic technique, CTNI Flex® reagent, before and after on-pump cardiac surgery, at H0, H3, H6, H12, H21, H24 and H72 using automatic SIEMENS Dimension Xpand Plus. RESULTS: The results were higher than in cardiology, even among the group of patients without postoperative cardiac complications, with an average cTnl rate of approximately 2.5 times higher than the threshold value in cardiology. The kinetics of release differed significantly among the 3 groups (p< 0.05). CONCLUSION: The threshold value that we propose to confirm the diagnosis of perioperative myocardial infarction is 13ng/ml obtained between H12 and H24. We recommend to collect 1-2 samples at H12 and then between H20 and H24.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Infarto do Miocárdio/diagnóstico , Complicações Pós-Operatórias/diagnóstico , Troponina I/metabolismo , Adulto , Idoso , Ponte de Artéria Coronária/métodos , Humanos , Pessoa de Meia-Idade , Marrocos , Infarto do Miocárdio/etiologia , Estudos Prospectivos
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