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1.
Respirology ; 22(2): 322-328, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27623733

RESUMO

BACKGROUND AND OBJECTIVE: Post-mortem and computed tomography (CT) studies indicated that emphysema is a feature of COPD even in the 'blue bloater/chronic bronchitis' type. We aim to test the hypothesis that the non-emphysematous patients are distinct from the main body of COPD and are more akin to asthmatic patients. METHODS: We studied 54 patients with COPD. Emphysema was measured by Goddard's visual scoring of CT scan and the carbon monoxide transfer coefficient (KCO). Bronchial biopsy was offered for thickness of basement membrane (BM) (≥7 µm) as a marker of remodelling in irreversible asthma. Spirometry was repeated after therapy with Budesonide/Formoterol for 1 year. RESULTS: The non-emphysematous phenotype were 24 of 54 patients (44%) by CT scan and 23 of 54 patients (43%) by KCO, showing agreement in 53 out of 54 patients. The non-emphysematous patients were younger, had higher forced expiratory volume in 1 s (FEV1 ) (median 61% vs 49.7%), greater prevalence of hypertrophy of nasal turbinates and higher serum IgE. The emphysematous phenotype had lower BMI and greater dyspnoea score. The BM was thickened in 11 of 14 and 0 of 10 patients in the non-emphysematous and emphysematous groups, respectively. Three patients without emphysema and a normal BM normalized their FEV1 upon receiving inhaled corticosteroid (ICS)/long-acting ß2 agonist (LABA). All the non-emphysematous improved their FEV1 after ICS/LABA (median = 215 mL). The median decline in the emphysematous was -65 mL. CONCLUSION: The non-emphysematous phenotype of COPD displays important features of asthma: clinical picture, histology and response to ICS. CT and KCO can predict spirometric response to ICS/LABA.


Assuntos
Asma , Combinação Budesonida e Fumarato de Formoterol/uso terapêutico , Pulmão/patologia , Doença Pulmonar Obstrutiva Crônica , Enfisema Pulmonar , Idoso , Asma/diagnóstico , Asma/tratamento farmacológico , Biópsia/métodos , Broncodilatadores/uso terapêutico , Monitoramento de Medicamentos/métodos , Feminino , Volume Expiratório Forçado/efeitos dos fármacos , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Doença Pulmonar Obstrutiva Crônica/tratamento farmacológico , Enfisema Pulmonar/diagnóstico , Enfisema Pulmonar/tratamento farmacológico , Espirometria/métodos , Tomografia Computadorizada por Raios X/métodos
2.
J Allergy Clin Immunol ; 130(2): 481-8.e2, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22721650

RESUMO

BACKGROUND: Clinical immunology has traditionally relied on accurate phenotyping of the patient's immune dysfunction for the identification of a candidate gene or genes for sequencing and molecular confirmation. Although this is also true for other branches of medicine, the marked variability in immune-related phenotypes and the highly complex network of molecules that confer normal host immunity are challenges that clinical immunologists often face in their quest to establish a specific genetic diagnosis. OBJECTIVE: We sought to identify the underlying genetic cause in a consanguineous family with chronic inflammatory bowel disease-like disorder and combined immunodeficiency. METHODS: We performed exome sequencing followed by autozygome filtration. RESULTS: A truncating mutation in LPS-responsive beige-like anchor (LRBA), which abolished protein expression, was identified as the most likely candidate variant in this family. CONCLUSION: The combined exome sequencing and autozygosity mapping approach is a powerful tool in the study of atypical immune dysfunctions. We identify LRBA as a novel immunodeficiency candidate gene the precise role of which in the immune system requires future studies.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Exoma/genética , Doenças Inflamatórias Intestinais/genética , Mutação , Imunodeficiência Combinada Severa/genética , Proteínas Adaptadoras de Transdução de Sinal/deficiência , Adolescente , Sequência de Bases , Criança , Consanguinidade , Análise Mutacional de DNA , Exoma/imunologia , Família , Humanos , Imunofenotipagem , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/imunologia , Lipopolissacarídeos/imunologia , Masculino , Dados de Sequência Molecular , Linhagem , Fenótipo , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/imunologia , Adulto Jovem
3.
Respiration ; 82(1): 19-27, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21282939

RESUMO

BACKGROUND: Irreversible airways obstruction in smokers is usually attributed to chronic obstructive pulmonary disease (COPD). We speculate that some of these are cases of asthma indistinguishable from COPD. OBJECTIVES: To determine the prevalence of asthma in a 'COPD' population and how to differentiate the two conditions. METHODS: This was a prospective observational study of smokers fulfilling the Global Initiative for Chronic Obstructive Lung Disease definition of COPD [mean post-salbutamol forced expiratory volume in 1 s (FEV1) 66.9% predicted]. They were classified into 4 groups, as follows: (1) inhaled corticosteroid (ICS)-responsive asthma, defined by normalization of spirometry upon ICS treatment; (2) irreversible asthma, defined as airway obstruction for 1 year and bronchial biopsy indicating asthma; (3) COPD, in the presence of bilateral panlobular emphysema with bullae on high-resolution computed tomography, hypercapneic respiratory failure or bronchial biopsy indicating COPD, and (4) unclassified airflow limitation (AFL). RESULTS: Eighty patients fulfilled the definition of COPD. The initial diagnosis was COPD in 57.5% and asthma in 42.5%. The final diagnosis was ICS-responsive asthma in 48 patients (60%), irreversible asthma in 8 (10%), COPD in 16 (20%) and unclassified AFL in 8 (10%). A normal transfer coefficient for carbon monoxide (KCO) and an FEV1 fluctuation ≥18% during 1 year of follow-up distinguished irreversible asthma and COPD. Seven of the 8 patients with irreversible asthma had improved FEV1 at the end of 1 year (median 320 ml compared with -29 ml in COPD). Five out of the 8 unclassified AFL cases had normal KCO and a large improvement in FEV(1) suggestive of irreversible asthma. CONCLUSIONS: COPD, even in heavy smokers, includes cases of asthma. FEV1 fluctuation during 1 year is a novel concept which may distinguish irreversible asthma and COPD.


Assuntos
Asma/diagnóstico , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Fumar , Adulto , Idoso , Asma/complicações , Asma/epidemiologia , Asma/patologia , Asma/fisiopatologia , Diagnóstico Diferencial , Feminino , Volume Expiratório Forçado , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Prospectivos , Doença Pulmonar Obstrutiva Crônica/complicações , Espirometria , Capacidade Vital
4.
Acta Cytol ; 55(1): 26-9, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21135518

RESUMO

BACKGROUND/AIMS: Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) has emerged as a new and effective tool in the evaluation of pancreatic mass lesions. It has proven to be a safe, accurate, and reliable diagnostic procedure and should be performed in centers with experienced gastroenterologists and cytopathologists for optimum results. In this study, we elaborate on our experience of specimen adequacy criteria, overall efficiency of the technique, and the cytomorphologic features of various pancreatic lesions. PATIENTS AND METHODS: EUS-FNA of the pancreas and subsequent surgical and/or clinical follow-up of all cases performed at King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from November 2006 to January 2010, were retrospectively reviewed. Diff-Quik and Papanicolaou staining methods were used. Immunohistochemistry stains on cell-block preparations were applied whenever available and required. A total of 43 aspirates from 42 patients were available for retrospective review, including 37 (86%) adequate/diagnostic and 6 (14%) inadequate/non-diagnostic cases. The diagnostic group included 17 (46%) malignant and 20 (54%) benign cases. Of the malignant category (17 cases), 11 (65%) were diagnosed as positive for adenocarcinoma, 4 (23%) as neuroendocrine tumor, 1 (6%) as solid pseudo-papillary neoplasm, and 1 (6%) as non-Hodgkin's lymphoma. The benign category (20 cases) included 5 (25%) cysts/pseudo-cysts, 8 (40%) non-specific pancreatitis, 4 (20%) granulomatous/tuberculous pancreatitis, 1 (5%) benign neoplasm, and 2 (10%) benign not otherwise specified, both were proven to be false-negative cases. The sensitivity, specificity and accuracy rate for the diagnosis of cancers were 74, 100, and 86%, respectively. No false-positive results were reported. All malignant cases showed characteristic cytomorphologic features that were sufficient for their diagnosis. CONCLUSION: EUS-FNA in adequate samples is an efficient and accurate modality in the diagnosis of pancreatic lesions. Applying immunohistochemical studies on cell-block preparation can facilitate the final, definitive, and specific diagnosis of some difficult pancreatic neoplasms.


Assuntos
Biópsia por Agulha Fina/métodos , Endossonografia/métodos , Neoplasias Pancreáticas/diagnóstico por imagem , Neoplasias Pancreáticas/patologia , Neoplasias Pancreáticas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha Fina/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/diagnóstico , Estudos Retrospectivos , Arábia Saudita , Sensibilidade e Especificidade
5.
Acta Cytol ; 54(2): 214-6, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20391983

RESUMO

BACKGROUND: Abdominal wall endometriosis is usually preceded by obstetric operations and occasionally can be spontaneous. The diagnosis can be suspected clinically when there is systemic endometriosis or cyclic pain; otherwise it is difficult to differentiate it from other abdominal tumors and nonneoplastic conditions. Fine needle aspiration is an extremely valuable and safe tool for preoperative evaluation of abdominal wall endometriosis as the disease usually presents as a cutaneous/subcutaneous mass. CASES: Two cases of abdominal wall endometriosis occurred. One was associated with systemic endometriosis, an the second was spontaneous. The diagnosis was reached correctly and confirmed by the subsequent histologic examination. CONCLUSION: The cytopathologic diagnosis ofendometriosis is feasible, and we need to include endometriosis in the differential diagnosis of an abdominal wall mass in a females.


Assuntos
Parede Abdominal/patologia , Endometriose/diagnóstico , Adulto , Biópsia por Agulha Fina , Diagnóstico Diferencial , Endometriose/patologia , Feminino , Humanos , Sensibilidade e Especificidade
6.
Pediatr Hematol Oncol ; 27(6): 490-5, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20615071

RESUMO

Childhood sarcoidosis is a rare multisystemic disorder that can have variable clinical presentations. A triad of skin, eye, and joint involvement is common in children younger than 5 years; however, pulmonary disease is more common in older children, similar to adults. The authors report the case of a 10-year-old girl who presented solely with massive splenomegaly. Her history was significant for iridocyclitis and unilateral sensorineural deafness at 6 and 7 years of age, respectively. A gallium scan showed diffuse splenic uptake, and the pathology of the spleen was consistent with a noncaseating granuloma, with no evidence of malignancy. A work-up for infectious etiology was unremarkable. This case demonstrates that the challenge in diagnosing sarcoidosis in young children stems from its ability to present in several unique clinical scenarios. It also reinforces the importance of tissue evaluation and the exclusion of other differential diagnoses, such as lymphoma, to confirm the diagnosis of sarcoidosis.


Assuntos
Perda Auditiva Neurossensorial/complicações , Iridociclite/complicações , Sarcoidose/diagnóstico , Esplenomegalia/etiologia , Criança , Diagnóstico Diferencial , Feminino , Gálio , Humanos , Tomografia por Emissão de Pósitrons , Sarcoidose/patologia
7.
Case Rep Med ; 2020: 1294074, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32328105

RESUMO

Glycogen hepatopathy (GH) is a rare complication of type 1 diabetes mellitus that leads to an abnormal accumulation of glycogen in the hepatocytes. The exact mechanism of GH remains unknown, but fluctuations in blood glucose and insulin levels play important roles in promoting glycogen accumulation. We report a case of a 16-year-old female diagnosed with poorly controlled type 1 diabetes mellitus with hepatomegaly and elevated liver enzymes. The patient experienced multiple admissions for diabetic ketoacidosis, and she also had celiac disease diagnosed 2 years previously based on serology and a duodenal biopsy. The laboratory analyses results were compatible with acute hepatitis, and the celiac serology was positive. Other investigations ruled out viral hepatitis and autoimmune and metabolic liver diseases. Ultrasound and computerized tomography (CT) scans of the abdomen revealed liver enlargement with diffuse fatty infiltration. A liver biopsy revealed the presence of abundant glycogen in the cytoplasm of the hepatocytes. PAS staining was strongly positive, which confirmed the diagnosis of GH. There were no features of autoimmune hepatitis or significant fibrosis. Duodenal biopsy results were consistent with celiac disease. Despite our efforts, which are supported by a multidisciplinary team approach that included a hepatologist, a diabetic educator, a dietitian, and an endocrinologist, we have encountered difficulties in controlling the patient's diabetes, and she persistently maintains symptomatic hepatomegaly and abnormal liver biochemistry. Given the patient's age, we assumed that these abnormalities were related to patient noncompliance. In conclusion, GH remains an under-recognized complication of type 1 DM that is potentially reversible with adequate glycemic control. The awareness of GH should prevent diagnostic delay and its implications for management and the outcome.

8.
Saudi Med J ; 41(3): 232-237, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32114594

RESUMO

OBJECTIVES: To investigate the expression of various immunohistochemical markers in Mammary Paget's disease (MPD) and MPD-associated breast carcinoma and to evaluate their value in establishing the diagnosis. METHODS: This retrospective descriptive study was carried out at King Faisal Specialist Hospital and Research Center and King Khalid University Hospital, Riyadh, Saudi Arabia. All MPD cases reported between January 2010 and June 2016 were selected from the surgical pathology records.  Immunohistochemical staining was carried out for cytokeratin 7 (CK7), GATA-binding protein 3 (GATA3), human epidermal growth factor receptor 2 (HER2), and estrogen, and progesterone receptors. Results: Twenty-two cases of MPD and 20 cases of MPD-associated breast carcinoma were included. CK7 was positive in 95% (21/22) cases of MPD and in all (20/20) cases of associated breast carcinoma. Similarly, GATA3 was expressed in 95% cases of both MPD (21/22) and associated breast carcinoma (19/20). Human epidermal growth factor receptor 2 was also overexpressed in 90% cases of MPD (20/22) and associated breast carcinoma (18/20). Estrogen stained positive in 27% cases of MPD (6/22) and 30% of cases of associated breast carcinoma (6/20). Progesterone receptors was not positive in any case of MPD; however, it was seen positive in 25% cases of MPD-associated breast carcinoma (5/20). CONCLUSIONS: CK7, GATA3, and HER2 are widely expressed in MPD and MPD-associated breast carcinoma. These markers can be used for the immunohistochemical confirmation of MPD including CK7-negative cases.


Assuntos
Biomarcadores Tumorais/análise , Neoplasias da Mama/diagnóstico , Fator de Transcrição GATA3/análise , Queratina-7/análise , Doença de Paget Mamária/diagnóstico , Receptor ErbB-2/análise , Adulto , Idoso , Idoso de 80 Anos ou mais , Estrogênios/análise , Feminino , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Receptores de Progesterona/análise , Estudos Retrospectivos , Arábia Saudita
9.
Saudi Med J ; 40(5): 440-446, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31056619

RESUMO

OBJECTIVE: To evaluate the molecular subtypes of Mammary Paget's disease (MPD) and the associated breast carcinomas. METHODS: This retrospective study was carried out at King Khalid University Hospital and King Faisal Specialist Hospital, Riyadh, Saudi Arabia. Data from MPD patient cases from January 2010 to June 2016 were reviewed. The molecular subtypes were determined based on estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 (HER2) expression with immunohistochemical staining. The relative frequencies of the luminal A and B, HER2-enriched and basal-like molecular subtypes were calculated and compared for MPD and the associated breast carcinomas. Results: Among 22 patients with MPD, HER2-enriched was the most frequently occurring molecular subtype and was observed in 11 (50%) patients. Mammary Paget's disease was classified as basal-like in 5 (22.7%) patients, and luminal A and B were each detected in 3 (13.6%) patients. The molecular subtype of MPD corresponded with the subtype of the associated breast carcinoma in 18 out of 20 patients (90%). CONCLUSIONS: The HER2-enriched subtype is the most frequently occurring molecular subtype in MPD. The molecular subtype of the associated breast carcinoma is usually similar to that of MPD. The molecular subtypes vary between MPD associated breast carcinoma and overall breast carcinoma. The HER2-enriched subtype is the most frequently occurring subtype of MPD associated breast carcinoma, while luminal subtypes are more common in overall breast carcinoma.


Assuntos
Expressão Gênica , Doença de Paget Mamária/classificação , Doença de Paget Mamária/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/complicações , Carcinoma/complicações , Feminino , Humanos , Imuno-Histoquímica , Pessoa de Meia-Idade , Doença de Paget Mamária/complicações , Doença de Paget Mamária/metabolismo , Receptor ErbB-2/genética , Receptor ErbB-2/metabolismo , Receptores de Estrogênio/genética , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/genética , Receptores de Progesterona/metabolismo , Estudos Retrospectivos
10.
Turk Thorac J ; 19(4): 228-230, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30407159

RESUMO

The occurrence of squamous cell carcinoma (SCC) arising in a Zenker's diverticulum is a very rare incident. Complete excision of the diverticulum is considered as the procedure of choice for SCC in the pharyngeal pouch. Histopathological assessment of the pouch is the only modality to rule out SCC. Here, we report a case of a 71-year-old male with 20 years of history of Zenker's diverticulum, who recently presented with a history of weight and appetite loss. A barium swallow confirmed Zenker's pouch, the patient underwent diver-ticulectomy and cricopharyngeal myotomy; a histopathological examination of the specimen revealed a fungating mass of SCC within the pouch. This report highlights the suggestion of considering SCC not only in patients with a long history of Zenker's diverticulum but also when there is a clinical suspicion with new symptoms for a more aggressive management for diagnosis and complete excision of the pouch.

11.
Ann Saudi Med ; 38(2): 118-124, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29620545

RESUMO

BACKGROUND: Asthma and chronic obstructive pulmonary disease (COPD) are chronic conditions with an increasing prevalence in developing countries. The evaluation of endobronchial biopsies has emerged as a tool to differentiate between both conditions via the measurement of the reticular basement membrane (RBM) thickness with various conclusions drawn from different studies. OBJECTIVES: Compare the thickness of the RBM between asthma and COPD and evaluate other histomorphological features in both groups. DESIGN: Prospective, descriptive and analytical. SETTING: University teaching hospital. PATIENTS AND METHODS: The study included patients with COPD and irreversible and reversible asthma with diagnosis based on clinical assessment, pulmonary function tests and high-resolution computed tomography scans. Endobronchial biopsies were obtained from all patients and, using a light microscope and a computerized image analyzer, the thickness of the reticular basement membrane was calculated in all patients. We also made a qualitative assessment of other histo-morphological features. MAIN OUTCOME MEASURES: Mean RBM thickness. SAMPLE SIZE: Thirty male patients. RESULTS: The mean RBM thickness in asthmatic patients was 8.9 (2.4) micro m. The mean RBM thickness in COPD patients was 5.3 (1.1) micro m. However, there was no thickening of the RBM in patients with reversible asthma. The RBM was significantly thicker in patients with irreversible asthma than in patients with COPD or reversible asthma. There were no significant differences in epithelial desquamation or metaplasia, mucosal or submucosal inflammation, the presence of eosinophils, submucosal glandular hyperplasia or submucosal smooth muscle hyperplasia between groups. CONCLUSIONS: The thickness of the RBM is the only reproducible histopathological feature to differentiate COPD from irreversible asthma. LIMITATIONS: The study included a limited number of patients. A qualitative approach was used to compare epithelial cell injury, inflammation, submucosal glandular and muscular hyperplasia. CONFLICT OF INTEREST: None.


Assuntos
Asma/patologia , Membrana Basal/patologia , Brônquios/patologia , Broncoscopia/métodos , Doença Pulmonar Obstrutiva Crônica/patologia , Idoso , Asma/diagnóstico , Membrana Basal/diagnóstico por imagem , Biópsia/métodos , Brônquios/diagnóstico por imagem , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Doença Pulmonar Obstrutiva Crônica/diagnóstico , Testes de Função Respiratória , Tomografia Computadorizada por Raios X
12.
Saudi Med J ; 37(7): 744-9, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27381533

RESUMO

OBJECTIVES: To evaluate the role of applying a limited panel of immunohistochemical stains on the cellblock preparation from samples obtained by endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) in the aim of differentiating solid pseudopapillary neoplasms (SPNs) from neuroendocrine tumors (NETs).  METHODS: We retrospectively retrieved all the EUS-FNAs of the pancreas that have a diagnosis of NET or SPN that were performed at 2 tertiary care hospitals in Riyadh, Kingdom of Saudi Arabia from May 2004 to December 2014. Diff-Quik, Papanicolaou, and Immunohistochemistry stains on cellblock preparations were performed.   RESULTS: Twenty cases were available (16 pancreatic neuroendocrine tumors (pNETs) and 4 SPNs). The pNETs were immunoreactive for synaptophysin, chromogranin A and CD56 while E-cadherin was diffusely to focally cytoplasmic positive. ß-catenin was negative or showed focal cytoplasmic immunoreactivity. In comparison, SPNs were positive for vimentin, CD10, CD-56, focally positive for progesterone receptors and synaptophysin, and revealed nuclear immunostaining for ß-catenin. They were negative for chromogranin A and E-cadherin.  CONCLUSION: Based on EUS-FNA samples, nuclear immunoreactivity for ß-catenin with loss of membranous immunostaining for E-Cadherin can potentially facilitate differentiating SPNs from pNETs.


Assuntos
Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico , Neoplasias Pancreáticas/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/patologia
13.
Cytojournal ; 12: 20, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26445590

RESUMO

BACKGROUND: Endobronchial ultrasound-guided transbronchial fine-needle aspiration is a minimally invasive technique for diagnosis of mediastinal lesions. Although most studies have reported the utility of EBUS-FNA in malignancy, its use has been extended to the benign conditions as well. OBJECTIVE: To evaluate the diagnostic yield and cytologic accuracy of endobronchial ultrasound-guided transbronchial fine-needle aspiration (EBUS-FNA) in cases of clinically and radiologically suspected granulomatous diseases. PATIENTS AND METHOD: From May 2010 to April 2015, 43 of 115 patients who underwent EBUS-FNA at one center for radiologically and clinically suspicious granulomatous lesions, and with no definite histological diagnosis, were included in this retrospective study. RESULTS: When the histological diagnosis was taken as the gold standard, the sensitivity of EBUS-FNA was 85% and specificity was 100% with the positive predictive value of 100. The combined diagnostic sensitivity of EBUS-FNA and transbronchial lung biopsy was 100%. In 4 cases, cell block provided an exclusive morphological diagnosis of sarcoidosis which was noncontributory by EBUS-FNA. CONCLUSION: Our study supports the use of EBUS-FNA, by virtue of being a safe, minimally invasive, and an outpatient procedure, in the diagnosis of granulomatous mediastinal lymphadenopathy, thereby obviating more invasive testing in a significant number of patients. Also, cell block provides additional data in the diagnosis in these benign mediastinal diseases.

14.
Saudi J Gastroenterol ; 21(2): 116-8, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25843199

RESUMO

Pancreatic heterotopia is a rare congenital disorder occurring at a variety of sites in the gastrointestinal tract. It is rarely symptomatic. Despite advances in diagnostic techniques, it still remains a challenge to the clinician to differentiate it from a neoplasm. Cytologic characteristics of pancreatic heterotopia in general are rarely described in the literature. We report the cytologic characteristics of heterotopic pancreatic tissue at the gastric outlet in a 48-year-old female. The patient underwent surgical excision due to symptoms related to the lesion. Endoscopic ultrasound fine-needle aspiration is increasingly used for the diagnosis of gastrointestinal tumors, which makes the recognition of certain endoscopically unreachable lesions an important step in optimal patient management.


Assuntos
Coristoma/patologia , Biópsia Guiada por Imagem/métodos , Pâncreas , Gastropatias/patologia , Coristoma/diagnóstico por imagem , Diagnóstico Diferencial , Endossonografia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Pancreáticas/diagnóstico , Gastropatias/diagnóstico por imagem
15.
Indian J Pathol Microbiol ; 58(4): 448-52, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26549065

RESUMO

BACKGROUND AND AIMS: Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) sampling has become standard practice for the diagnosis of submucosal gastrointestinal (GI) lesions. The aim of this study was to determine the utility of EUS-guided FNA cytology in the diagnosis of deeply seated gastric mass lesions. MATERIALS AND METHODS: Thirteen patients with deeply seated gastric mass lesions were diagnosed by EUS-FNA. Adequate cytology material was present in all cases. Cell blocks were available in 10 cases. Surgical resections were performed in 8 cases. Immunohistochemical (IHC) studies were done on cell blocks in 9 cases and on 6 resected specimens. Seven cases has proved to be GI stromal tumors (GIST), in four of them, cell blocks were available, and resection for GIST was performed in 5 cases. IHC stains that were performed in cytology, as well as resection specimens, revealed similar results in each patient. CONCLUSION: EUS-FNA cytology, when combined with a histologic assessment of cell blocks provides accurate and efficient tissue diagnosis of a wide variety of deeply seated gastric mass lesions.


Assuntos
Técnicas Citológicas/métodos , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Gastropatias/diagnóstico , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Arábia Saudita
16.
Diagn Mol Pathol ; 11(3): 157-62, 2002 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12218455

RESUMO

We report a case of a large, deep-seated, diagnostically difficult angiomatoid fibrous histiocytoma. The neoplastic cells were positive for vimentin, calponin, CD99, and, focally, for desmin and contained intertwining cytoplasmic processes joined by desmosomelike junctions. Fusion of codon 175 of the gene to codon 110 of the gene was detected by reverse transcription-polymerase chain reaction. Because identical fusion of the and genes has been recently reported in another case of angiomatoid fibrous histiocytoma, fusion of these genes may be characteristic for at least a subset of these tumors.


Assuntos
Fusão Gênica Artificial , Proteínas de Ligação a DNA , Hemangioma/genética , Histiocitoma Fibroso Benigno/genética , Proteína FUS de Ligação a RNA/genética , Fatores de Transcrição/genética , Fator 1 Ativador da Transcrição , Adulto , Biomarcadores Tumorais/análise , Hemangioma/química , Hemangioma/patologia , Histiocitoma Fibroso Benigno/química , Histiocitoma Fibroso Benigno/patologia , Humanos , Masculino , Reação em Cadeia da Polimerase Via Transcriptase Reversa
17.
Cytojournal ; 11: 19, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25191512

RESUMO

OBJECTIVE: The objective of this study is to evaluate the cytological accuracy of endobronchial ultrasound-guided transbronchial fine-needle aspiration (EBUS-TFNA) of the mediastinal mass/nodular lesions. STUDY DESIGN: Over 3½ years from inception at King Khalid University Hospital, a retrospective analysis of the cytological diagnoses of all the EBUS-TFNA procedures performed in 80 patients who had mediastinal mass/nodular enlargement. Cytology results were reviewed and correlated with the histologic follow-up. RESULTS: Of the 80 patients who underwent EBUS-TFNA, 15 cases (18.75%) were positive for malignancy, 48 cases (60%) negative for malignancy and 17 cases (21.25%) unsatisfactory. Of the 48 cases, which were negative for malignancy, 24 (50%) cases were of granulomatous inflammation. The overall diagnostic yield of our EBUS-TFNA specimen was 78.75%. Forty-seven cases (58.75%) of 80 cases had histological follow-up biopsies. Among them, 32 cases (68%) had the same cytological and histological diagnosis and 15 cases (31.09%) had discordance between the cytology and the follow-up histological diagnosis. The sensitivity, specificity, and positive and negative predictive values for diagnosing granulomas by EBUS-TFNA are 77%, 82%, 83%, and 75% and for diagnosing malignancy are 71%, 100%, 100%, and 82%, respectively. CONCLUSION: Preliminary results show that cytological samples obtained through EBUS-TFNA are accurate and specific in making a diagnosis of the mediastinal mass/nodular lesions. Its optimum use depends on the effective collaboration between the cytotechnologist, pathologist, and the bronchoscopist.

18.
Cytojournal ; 11: 31, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25558271

RESUMO

BACKGROUND: Endoscopic ultrasound-guided transbronchial fine-needle aspiration (EBUS-TFNA) is a minimally invasive technique for diagnosis of mediastinal masses/lesions. Although most studies have reported the utility of EBUS-TFNA in malignancy, its use has been extended to the benign conditions as well. OBJECTIVE: The present study focused on utility of EBUS in contributing to reach the final diagnosis of sarcoidosis. DESIGN: From May 2010 to December 2013, 19 of 80 patients who underwent EBUS-TFNA at one center for radiologically suspicious lesions for sarcoidosis, and with no definite histological diagnosis, were included in this retrospective study. RESULTS: When the histological diagnosis was taken as the gold standard, the sensitivity of EBUS-TFNA was 84.2% and specificity 100% with the positive predictive value of 100. The combined diagnostic sensitivity of EBUS-TFNA and transbronchial lung biopsy was 100%. CONCLUSION: EBUS is a valuable, minimally invasive diagnostic modality to support the diagnosis of sarcoidosis in appropriate clinical setting, after conventional work-up - particularly if patients have suspicious radiological findings. This minimally invasive procedure helps in providing a final diagnosis without exposing the patient to the risk of complications from more invasive procedures.

19.
Ann Saudi Med ; 33(4): 400-3, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24060722

RESUMO

Several reports have described different lung lesions mimicking primary or metastatic neoplasms. In this paper, we describe the different features of two uncommon and benign lung lesions mimicking metastasis from a primary large bowel adenocarcinoma. Our patient is a 75-year old female with a history of invasive rectal adenocarcinoma. One month after her surgery, she started complaining of coughing and shortness of breath. Clear cell sugar tumor and minute meningothelial-like nodules had been found incidentally and simultaneously during her chest x-ray. The diagnosis had been made based on morphology and was supported by a positive staining to a panel of immunohistochemical stains including CD34, vimentin, HMB45, melan A and S100. An ultra-structural examination was also performed and confirmed the presence of melanosomes in sugar tumor. The coexistence of lung sugar tumor and minute pulmonary meningothelial-like nodules has never been reported in the literature and an awareness of these lesions is essential to correctly diagnose and stage patients.


Assuntos
Neoplasias Pulmonares/diagnóstico , Nódulos Pulmonares Múltiplos/diagnóstico , Neoplasias de Células Epitelioides Perivasculares/diagnóstico , Adenocarcinoma/patologia , Idoso , Feminino , Humanos , Neoplasias Pulmonares/patologia , Melanossomas/metabolismo , Nódulos Pulmonares Múltiplos/patologia , Neoplasias de Células Epitelioides Perivasculares/patologia , Radiografia Torácica , Neoplasias Retais/patologia , Coloração e Rotulagem
20.
Saudi Med J ; 34(11): 1192-4, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24252900

RESUMO

Menetrier`s disease is a rare form of acquired gastropathy that presents mostly during adulthood, but is extremely rare in children. It is a clinicopathological diagnosis that typically presents with abdominal pain, vomiting, and edema secondary to hypoalbuminemia. Endoscopy usually shows giant gastric mucosal folds, and gastric biopsy shows foveolar hyperplasia and decreased oxyntic glands. Here, we describe a 5-year-old boy from Saudi Arabia with typical presentation of Menetrier`s disease and serological evidence of acute cytomegalovirus infection.


Assuntos
Gastrite Hipertrófica/diagnóstico , Biópsia , Pré-Escolar , Infecções por Citomegalovirus/complicações , Gastrite Hipertrófica/complicações , Gastrite Hipertrófica/patologia , Humanos , Masculino , Arábia Saudita , Estômago/patologia
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