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1.
SAGE Open Med Case Rep ; 12: 2050313X241248386, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38715899

RESUMO

Valproic acid holds a prominent position as the primary therapeutic option for epilepsy cases. The utilization of antiepileptic agents like valproic acid has been linked to disturbances in sleep architecture. Although scant, there exists a subset of studies that allude to the potential manifestation of sleep apnea as an adverse effect of valproic acid administration. In this context, we present a case report of a 76-year-old man with a past medical history of arterial hypertension, atrial fibrillation, and obstructive sleep apnea syndrome treated with continuous positive airway pressure since 2020. Following the commencement of valproic acid treatment for vascular epilepsy, obstructive sleep apnea evolved toward to central sleep apnea. This case exemplifies the need for a heightened awareness of the multifaceted implications of valproic acid therapy on sleep patterns.

2.
SAGE Open Med Case Rep ; 12: 2050313X231220802, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38162420

RESUMO

Pneumocystis jirovecii pneumonia, typically an opportunistic infection, is commonly associated with risk factors such as low CD4+ lymphocyte count, underlying malignancies, organ transplantation, or immunosuppressive medications. However, occurrences in healthy individuals without known risk factors are exceptionally rare and sparsely documented. In our retrospective analysis of a 42-year-old male without past medical history at Abderrahmane Mami Hospital, Tunisia, Pneumocystis jirovecii pneumonia was diagnosed. The patient presented with fever, productive cough, hemoptysis, and a decline in general health. Clinical examination revealed fever and hypoxemia, and imaging studies demonstrated bilateral necrotic alveolar opacities. Despite empirical antibiotics, nonresponse necessitated bronchoscopy, confirming Pneumocystis jirovecii. Treatment with oral Sulfamethoxazole-Trimethoprim yielded excellent outcomes. This case highlights the potential occurrence of Pneumocystis jirovecii pneumonia in immunocompetent individuals, underscoring the importance of direct microbiological methods in assessing suggestive clinical and radiological features.

3.
Heliyon ; 9(10): e20070, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37767510

RESUMO

Pulmonary actinomycosis is a rare anaerobic infection with non specific clinical and radiographic presentations that delay diagnosis. Throughout literature, a significant number of misdiagnosed cases have been reported. The diagnosis is substantially based on histopathological pattern. We describe the cases of two patients evaluated and treated in pulmonary department 1 of Abderrahmane Mami hospital of Tunisia with a diagnosis of pulmonary actinomycosis. There are two men. The first patient had hypertension and chronic obstructive pulmonary disease and the second one underwent surgery for bronchiectasis. Clinical presentation was consistent with productive cough, hemoptysis, and deterioration of general status. The medical examination was non-specific. The chest X-ray revealed an apical opacity, excavated in the first case and retractable in the second one. Biology showed an inflammatory syndrome. Bronchoscopy was performed in the two cases and showed lesions mimicking lung malignancy. Diagnosis is confirmed by histopathological examinations of surgical specimens in the two cases. Both patients were received antibiotic therapy. The results were excellent with a favorable clinical course and no deaths. This study highlights the misleading patterns of actinomycosis to prompt accurate diagnosis and earlier treatment, thus improving the outcome. Given either its low culture yield or the limited use of new molecular diagnostic tools in routine clinical practice, histological examination of lung tissue specimens is crucial to get the correct diagnosis.

4.
Respirol Case Rep ; 11(8): e01190, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37469571

RESUMO

Drug-induced tubulointerstitial nephritis is an uncommon complication in patients on anti-tuberculosis therapy that can lead to permanent kidney damage. Rifampicin is the most offending drug. We report a case of a 41-years old man being treated for pulmonary tuberculosis and presenting with tubulointerstitial nephritis associated with rifampicin. We focus on diagnosis features and therapeutic challenges.

5.
Tunis Med ; 101(6): 580-584, 2023 Jun 05.
Artigo em Francês | MEDLINE | ID: mdl-38372554

RESUMO

INTRODUCTION: Since its appearance, E-cigarette (EC) has experienced a strong craze among those seeking to reduce their conventional cigarette (CC) consumption. AIM: This study aimed to compare EC to CC addictive power in actual users of EC and former smokers of CC. METHODS: We conducted a comparative cross-sectional study including 65 EC users and former smokers. They were collected on Facebook using a questionnaire including Fagrestrom score (FS). RESULTS: The average total of FS was estimated at 3.45 ± 2 with EC vs 3.89±2.45 with CC (p=0.04). The dependence on the EC was strong in 8%, average in 25%, and weak in 35% of cases. The predictive factors of a medium to high dependence on EC were the duration of its consumption (p=0.008) and the daily quantity of e-liquid (p=0.009). The presence of medical history was inversely correlated with EC addiction. The duration of EC use was the only independent factor of dependence with an OR of 4.25 IC95% [1.019-17.729]. EC users continued to smoke TC in 68% of cases. CONCLUSION: Our study shows that even if it remains less important than that of CC, the dependence on EC is not negligible.


Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Vaping , Humanos , Fumantes , Estudos Transversais , Inquéritos e Questionários , Vaping/efeitos adversos , Vaping/epidemiologia
6.
Tunis Med ; 100(7): 525-533, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36571741

RESUMO

INTRODUCTION: Organic comorbidities of obstructive sleep apnea (OSA) have been widely studied. However, psychiatric disorders, especially depression and anxiety, have not attracted so much attention. AIM: The primary aim was to determine the prevalence and the predictive factors of depression and anxiety in OSA patients. The secondary aim was to investigate the association between OSA severity and these psychiatric disorders. METHODS: A cross-sectional study including untreated OSA patients without mental illness history was conducted. Patients were administered the Hospital Anxiety (HADS-A) and Depression Scale (HADS-D). Depression and anxiety were diagnosed for HAD-D and HAD-A scores ≥ 8. RESULTS: Eighty patients were included (mean age: 54.83 ± 13.12 yr; female: 52 (65%); mean Body mass index (BMI) :34.7±6.14 kg/m2). The prevalence of depression and anxiety was 35 % and 43.8% of patients respectively. Both depressive and anxious OSA patients had more libido disorder ( p=0.011, p=0.0007 ;respectively), anhedonia (p= 10-4, p= 10-4respectively ) and suicidal ideas(p= 0.002 ,p=0.019 respectively). Moreover, depressed OSA patients had lower socio-economic condition (p= 0.019), more coronary artery diseases (CAD) (p=0.019) and less cognitive disorder (p= 0.005). The HADS-D (r=0,095; p=0,404) and the HADS-A (r=0,212; p=0,059) were not correlated with the Apnea/Hyponea Index. The determinants of depressive and anxious mood were female-sex (p= 0.035, p=0.004 respectively) and libido disorder (p=0.040, p=0.02 respectively). Anhedonia (p=10-4) and CAD (p=0.010) were also identified as a predictive factors of depression. CONCLUSIONS: In our study, the high prevalence of depression and axiety in apneic patients demonstrates the importance of the psychiatric component in the management of this disease. A collaboration between pneumologists and psychiatrists is necessary in order to improve the quality of life of these patients.


Assuntos
Doença da Artéria Coronariana , Apneia Obstrutiva do Sono , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Masculino , Depressão/epidemiologia , Depressão/etiologia , Depressão/diagnóstico , Anedonia , Prevalência , Qualidade de Vida/psicologia , Estudos Transversais , Ansiedade/epidemiologia , Ansiedade/etiologia , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/epidemiologia , Apneia Obstrutiva do Sono/diagnóstico
7.
PLoS One ; 16(10): e0258202, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34614013

RESUMO

Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic features, and motor dysfunctions. AM has never been reported in Tunisia. We report here the clinical and genetic study of six patients from two Tunisian families with AM. The AM diagnosis was confirmed by an enzymatic activity assay. Genetic investigation was conducted by Sanger sequencing of the mutational hotspots for the first family and by ES analysis for the second one. In the first family, a frameshift duplication p.(Ser802GlnfsTer129) was identified in the MAN2B1 gene. For the second family, ES analysis led to the identification of a missense mutation p.(Arg229Trp) in the MAN2B1 gene in four affected family members. The p.(Ser802GlnfsTer129) mutation induces a premature termination codon which may trigger RNA degradation by the NMD system. The decrease in the levels of MAN2B1 synthesis could explain the severe phenotype observed in the index case. According to the literature, the p.(Arg229Trp) missense variant does not have an impact on MAN2B1 maturation and transportation, which correlates with a moderate clinical sub-type. To explain the intra-familial variability of cognitive impairment, exome analysis allowed the identification of two likely pathogenic variants in GHR and SLC19A3 genes potentially associated to cognitive decline. The present study raises awareness about underdiagnosis of AM in the region that deprives patients from accessing adequate care. Indeed, early diagnosis is critical in order to prevent disease progression and to propose enzyme replacement therapy.


Assuntos
Proteínas de Transporte/genética , Disfunção Cognitiva/genética , Consanguinidade , Predisposição Genética para Doença , Proteínas de Membrana Transportadoras/genética , alfa-Manosidose/genética , Audiometria , Sequência de Bases , Família , Feminino , Geografia , Humanos , Masculino , Mutação/genética , Linhagem , Fenótipo , Tunísia , Sequenciamento do Exoma
9.
Tunis Med ; 97(12): 1345-1352, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32173803

RESUMO

INTRODUCTION: Obstructive sleep apnea (OSA) is a risk factor for type 2 diabetes that adversely impacts glycemic control. However, there is little evidence about the effect of continuous positive airway pressure (CPAP) on glycemic control in patients with diabetes. AIM: Assess the effect of CPAP on glycated hemoglobin (HbA1c) levels in patients with type 2 diabetes and OSA. METHODS: it was a prospective study including type 2 diabetic patients with OSA and a CPAP therapy indication. All participants had HbA1c measurement at baseline (T0) and 2 months after the onset of CPAP (T1) with a compliance ≥ 4 hours / night. Patients who changed anti-diabetic treatment during follow-up were excluded. The HbA1c level goal was ≤ 7%. RESULTS: Thirty patients were included (4 men and 26 women) with a mean age of 61.3 ± 8.8 years. The mean diabetes duration was 5.8 ± 3.7 years. Twenty-four patients had poorly controlled diabetes. Associated comorbidities were dominated by hypertension (n=22) and obesity (n=22). The mean apnea hypopnea index was 38.0 ± 12.7/ hour. Two months after the CPAP use, a significant decrease of 1.1 ± 0.8 % in the mean HbA1c level was observed (HbA1c: T0= 8.9 ± 1.5 % vs T1=7.8 ± 1.1 %; p<0.001). This rate was significantly correlated with the body weight (r = 0.51, p = 0.003), the body mass index (r = 0.42, p = 0.02) and the HbA1c level at baseline (r = 0, 76, p <0.001). The only factor associated with glycemic control improvement was an initial HbA1c level > 9% (Odds Ratio = 8.3, p = 0.04). CONCLUSION: CPAP therapy improved diabetes control in type 2 diabetic patients with OSA, in particular in those with an initial HbA1c> 9%.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas , Diabetes Mellitus Tipo 2/sangue , Diabetes Mellitus Tipo 2/terapia , Hemoglobinas Glicadas/metabolismo , Apneia Obstrutiva do Sono/terapia , Idoso , Glicemia/metabolismo , Índice de Massa Corporal , Diabetes Mellitus Tipo 2/complicações , Feminino , Hemoglobinas Glicadas/análise , Humanos , Masculino , Pessoa de Meia-Idade , Cooperação do Paciente , Polissonografia , Apneia Obstrutiva do Sono/sangue , Apneia Obstrutiva do Sono/complicações , Resultado do Tratamento
10.
Tunis Med ; 97(11): 1302-1306, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32173834

RESUMO

Tracheobronchopathia osteochondroplastica (TO) is a rare and benign pathological condition of the upper pulmonary tract of unknown cause. Often diagnosed after 50 years of age, it is more common in men. Clinical manifestations are variable and unspecific. Endoscopic findings are the main argument for the diagnosis. We report the case of a 41 year-old woman with TO, presenting a chronic cough and recurrent hemoptysis.


Assuntos
Hemoptise/diagnóstico , Hemoptise/etiologia , Osteocondrodisplasias/complicações , Osteocondrodisplasias/diagnóstico , Doenças da Traqueia/complicações , Doenças da Traqueia/diagnóstico , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Tomografia Computadorizada por Raios X
11.
Semin Diagn Pathol ; 35(5): 280-287, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30173880

RESUMO

Bronchoalveolar lavage (BAL) is a noninvasive and well-tolerated procedure that is performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. After it was introduced to clinical practice, BAL rapidly gained acceptance in a large number of centers as a procedure that could be applied to the clinical evaluation of patients with various pulmonary disorders, especially the group of interstitial lung diseases (ILD). Cytological and flow cytometric analysis of BAL fluid in ILD is done with knowledge of the clinical presentation and radiological findings. BAL typically reveals variations in the types and numbers of nucleated immune cells and acellular components in patients with ILD, which differ from those seen in normal control subjects. Many clinicians currently use this technique as a guide in the differential diagnoses of ILD; it can also be used to monitor the course of disease and possible response to therapeutic interventions. This article summarizes current clinicopathological information concerning the use of BAL by pulmonologists and pathologists.


Assuntos
Lavagem Broncoalveolar , Doenças Pulmonares Intersticiais/diagnóstico , Pulmão , Biomarcadores/metabolismo , Biópsia , Líquido da Lavagem Broncoalveolar/química , Líquido da Lavagem Broncoalveolar/citologia , Citocinas/metabolismo , Citometria de Fluxo , Marcadores Genéticos , Genômica , Humanos , Mediadores da Inflamação/metabolismo , Pulmão/metabolismo , Pulmão/patologia , Doenças Pulmonares Intersticiais/genética , Doenças Pulmonares Intersticiais/metabolismo , Doenças Pulmonares Intersticiais/patologia , Valor Preditivo dos Testes , Prognóstico
13.
Pan Afr Med J ; 28: 253, 2017.
Artigo em Francês | MEDLINE | ID: mdl-29881497

RESUMO

Good syndrome (GS) is defined as the association between thymoma and immune deficiency. It is often complicated by broncho-pulmonary bacterial infections and rhinosinusitis. This disease accounts for only 5% of all parathymic syndromes. These recurrent respiratory infections can cause bronchiectasis associated with Good syndrome. We report the case of a 52-year old woman hospitalized for non resolutive infectious pneumonitis. Chest CT scan showed bronchiectasis associated with thymoma confirmed by biopsy. The discovery of hypogammaglobulinemia allowed the diagnosis of Good syndrome.


Assuntos
Imunodeficiência de Variável Comum/diagnóstico , Timoma/diagnóstico , Neoplasias do Timo/diagnóstico , Bronquiectasia/diagnóstico por imagem , Imunodeficiência de Variável Comum/complicações , Feminino , Humanos , Pessoa de Meia-Idade , Timoma/complicações , Neoplasias do Timo/complicações , Tomografia Computadorizada por Raios X
14.
Tanaffos ; 15(1): 57-60, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27403181

RESUMO

Rupture of thoracic aortic aneurysm is a life threatening condition. Rupture in the right pleural cavity is extremely rare. We report the case of an 80-year-old man with a spontaneous right hemothorax. Diagnosis was made by computed tomography (CT) scan. He was managed with chest tube and stabilization. The patient died before any surgical intervention. We report this case to emphasize that rupture of aortic aneurysm should be considered in the evaluation of spontaneous hemothorax even if it is right-sided particularly in the elderly. Emergent therapy is necessary to prevent mortality.

15.
Immunogenetics ; 68(1): 19-28, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26545377

RESUMO

Immunoglobulin class switch recombination deficiencies (Ig-CSR-D) are characterized by normal or elevated serum IgM level and absence of IgG, IgA, and IgE. Most reported cases are due to X-linked CD40L deficiency. Activation-induced cytidine deaminase deficiency is the most frequent autosomal recessive form, whereas CD40 deficiency is more rare. Herein, we present the first North African study on hyper IgM (HIGM) syndrome including 16 Tunisian patients. Phenotypic and genetic studies allowed us to determine their molecular basis. Three CD40LG mutations have been identified including two novels (c.348_351dup and c.782_*2del) and one already reported mutation (g.6182G>A). No mutation has been found in another patient despite the lack of CD40L expression. Interestingly, three AICDA mutations have been identified in 11 patients. Two mutations were novel (c.91T>C and c.389A>C found in one and five patients respectively), and one previously reported splicing mutation (c.156+1T>G) was found in five patients. Only one CD40-deficient patient, bearing a novel mutation (c.109T>G), has been identified. Thus, unlike previous reports, AID deficiency is the most frequent underlying molecular basis (68%) of Ig-CSR-D in Tunisian patients. This finding and the presence of specific recurrent mutations are probably due to the critical role played by inbreeding in North African populations.


Assuntos
Citidina Desaminase/genética , Síndrome de Imunodeficiência com Hiper-IgM/genética , Mutação , Adolescente , Sequência de Bases , Antígenos CD40/genética , Ligante de CD40/genética , Criança , Consanguinidade , Citidina Desaminase/deficiência , Feminino , Genes Recessivos , Humanos , Síndrome de Imunodeficiência com Hiper-IgM/imunologia , Masculino , Dados de Sequência Molecular , Tunísia , Adulto Jovem
19.
Tanaffos ; 11(1): 38-43, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-25191399

RESUMO

BACKGROUND: The association between asthma and obesity is becoming increasingly established but the mechanism that might explain the observed differences in asthma severity, control and quality of life between obese and non-obese adult asthmatics is not clear. THE PURPOSE OF THIS STUDY WAS: 1) to determine asthma severity, control and quality of life in obese asthmatics and 2) to explore, according to the body mass index (BMI), the systemic inflammatory state of asthmatic people. MATERIALS AND METHODS: A cross-sectional study was conducted between 2009 and 2010. Two hundred adult asthmatic patients were included. Data analysis consisted of univariate analysis with chi-square comparison test followed by a multivariate logistic regression. RESULTS: Obesity worsens the severity of asthma. This finding was more strongly observed among women than men. Obesity and overweight are associated with a poorer control of asthma. According to BMI, obese asthmatics had 6 times more frequent emergency visits, 5 times more frequent hospitalizations for asthma related complaints, increased missed work days and greater dose of inhaled corticosteroids (1025µg/day vs. 759µg/day of beclometasone equivalent). Mean serum level of C-reactive protein (CRP) and leptin was significantly correlated with asthma severity based on GINA classification (5.75 vs. 2.81 mg/l; 20.5 vs. 5.38 ng/ml; respectively). CONCLUSION: In summary, it appears that obesity is significantly associated with a greater asthma severity and a poorer asthma control and quality of life. Chronic systemic inflammation state may explain the relationship between obesity and asthma.

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