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1.
Med Arch ; 74(1): 69-72, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32317840

RESUMO

INTRODUCTION: Pulmonary Alveolar Microlithiasis (PAM) is a rare disorder that can affect patients at any age, although it is more common to present in the third and fourth decades of life. Most patients are asymptomatic at the time of diagnosis. However, some may present with symptoms of dyspnea or cough. PAM can be sporadic, or it can be hereditary. AIM: To focus on the importance of using chest CT scans along with bone scintigraphy to aid in the diagnosis of PAM. The importance of screening all family members is also addressed. CASE REPORT: In our case, the patient was a 21-year-old male, coming for routine check-up to be recruited in the army. He was referred to our clinic after the examining doctor noticed that his chest X-Ray was not normal. Upon revising his chest X-ray, he was found to have bilateral fine reticular infiltrates. His physical examination was unremarkable. His spirometry and DLCO were normal. A high-resolution chest CT scan was done, and showed diffuse bilateral microcalcifications with bilateral interstitial and septal thickening. To confirm the diagnosis of PAM, a Technetium-99m methylene diphosphonate (Tc-99m MDP) whole body bone scintigraphy was done, and it showed diffusely increased radiotracer uptake in both lungs. His family members were screened for PAM. His father and sister, who were completely asymptomatic and with normal pulmonary function tests, were found to have PAM as well. CONCLUSION: The use of bone scintigraphy plays an integral role in diagnosing patients with radiological findings consistent with PAM, and it can diagnose PAM without the need for invasive procedures. Once diagnosed, screening of all family members for PAM should be done, even when they are asymptomatic, as more than one-third of the cases have a familial pattern.


Assuntos
Calcinose/diagnóstico , Calcinose/fisiopatologia , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/fisiopatologia , Pneumopatias/diagnóstico , Pneumopatias/fisiopatologia , Cintilografia/métodos , Adulto , Feminino , Predisposição Genética para Doença , Humanos , Jordânia , Masculino , Adulto Jovem
2.
Biomolecules ; 8(3)2018 07 13.
Artigo em Inglês | MEDLINE | ID: mdl-30011810

RESUMO

Lung cancer is the leading cause of cancer death globally. The epidermal growth factor receptor (EGFR) plays an important role in cell proliferation and signaling. In this study, we examined the association between EGFR gene polymorphisms and lung cancer risk among the Jordanian population. A total of 129 patients with primary lung cancer and 129 matched healthy controls were recruited into this study. EGFR rs712829, rs712830, rs2072454, and rs11543848 single nucleotide polymorphisms (SNPs) were genotyped to test for their association with lung cancer risk. A significant association was observed between the rs712829 SNP and lung cancer risk (p < 0.05) where the GG + GT genotypes were higher in lung cancer patients when compared to controls. In addition, no association was detected between rs712830, rs2072454, and rs11543848 SNPs and lung cancer risk. When patients were stratified according to the lung cancer type, a significant association was detected between both rs712829 and rs2072454 and adenocarcinoma lung cancer (p < 0.05). Haplotype analysis of all four SNPs showed a significant association between the TCCG haplotype and both lung cancer and the adenocarcinoma subtype (p < 0.001). In conclusion, EGFR rs712829, rs2072454 SNPs, and TCCG haplotypes are associated with a risk of lung cancer among Jordanians. Since genetic associations are affected by the genetic background of populations, more studies in other Arab populations are required to confirm the present findings.


Assuntos
Adenocarcinoma/genética , Estudos de Associação Genética/métodos , Neoplasias Pulmonares/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Receptores ErbB/genética , Feminino , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Jordânia , Masculino , Pessoa de Meia-Idade
3.
Saudi Med J ; 27(5): 633-6, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16680251

RESUMO

OBJECTIVE: To identify the pattern of the clinical, radiological, and diagnostic procedures of the diagnosed cases of active pulmonary tuberculosis (TB) patients presented to the Respiratory Medicine Division at King Hussein Medical Center over the last 10 years. METHODS: This is a retrospective analysis of the medical records and chest radiographs of 137 active pulmonary TB patients who were diagnosed between March 1995 and October 2005. Patient's symptoms were recorded and analyzed. Radiological findings were assessed. Procedures used to identify Mycobacterium TB were identified. RESULTS: One hundred and thirty-seven patients medical records were retrieved and analyzed (84 males and 53 females). The mean age (range) was 48.43 +/- 14.65 (14-83) years. The most common presenting symptoms were cough (79%), weight loss (74%), and fatigue (69%). Other presenting complaints were fever (69%), excessive night sweating (55%), chest pain (41%) and dyspnea (39%). Thirty-one percent of the cohort presented with hemoptysis. Seventy-one patients had different types of opacities and infiltrates in their chest x-ray. Micro- or macro- nodular lung changes were reported in 22 (16%) patients. Lung cavitations and pleural effusions were present in 13% of the studied patients. In 7% of cases, bronchiectasis was noted as a sequelae of long-standing lung disease. The right lung was involved in 51% of cases; the left lung in 27% and bilateral lung involvement was noted in 22% of patients. The upper lobes were involved in 63%. Sputum for acid-fast bacilli (AFB) Z-Nielson stain and culture was positive in 51%, bronchial wash was positive in 27% of cases. The diagnosis was made by histopathological examination in 15% of cases. CONCLUSION: This study showed that active pulmonary TB patients vary in clinical presentation. The radiological manifestations of pulmonary TB are heterogeneous. Sputum for AFB remains an important, easy and inexpensive measure for TB diagnosis, but may not be always helpful in early diagnosis. Bronchoscopy with bronchial washings for Mycobacterium stain and culture is an important method, and it helps in confirming the diagnosis in sputum negative patients. In sputum and bronchial wash negative cases histopathological diagnosis can identify an important proportion of active pulmonary TB cases.


Assuntos
Tuberculose Pulmonar/diagnóstico por imagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Lavagem Broncoalveolar , Broncoscopia , Feminino , Hospitais , Humanos , Jordânia , Masculino , Prontuários Médicos/estatística & dados numéricos , Pessoa de Meia-Idade , Mycobacterium tuberculosis/isolamento & purificação , Mycobacterium tuberculosis/patogenicidade , Radiografia , Estudos Retrospectivos , Escarro/microbiologia
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