Gaucher's disease with uncommon presentations.

Abstract:

:Gaucher's disease is the most common lysosomal storage disorder gene defect, which leads to deficiency or decreased activity of glucocerebrosidase, followed by accumulation of glucosylceramide. There is autosomal recessive transmission leading to varied clinical manifestations. This disease has three main types: Type I - nonneuronopathic; type II - acute neuronopathic; and type III - chronic neuronopathic. The nonneuronopathic type has the highest prevalence and also the greatest variability. The authors here report two cases of Gaucher's disease with uncommon presentations in early childhood, highlighting the importance of early diagnosis of the disease, as now-a-days enzyme replacement therapy may arrest further progress of disease.

journal_name

J Cytol

journal_title

Journal of cytology

authors

Gupta SS,Mondal P,Basu N,Mallick MG

doi

10.4103/0970-9371.59399

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

117-9

issue

3

eissn

0970-9371

issn

0974-5165

pii

JCytol-26-117

journal_volume

26

pub_type

  • Analyzing agreement patterns of intraoperative central nervous system lesion reporting according to type and grade.

    abstract:BACKGROUND:Neuropathology centers are expected to offer a prompt and accurate intraoperative diagnosis regarding tumor/lesion type and grade on fresh unfixed tissue. Level of diagnostic accuracy according to type and grade and also, the experience at a new center has not been reported before. AIMS:The aim of this stud...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.117677

    authors: Chaturvedi S,Pant I,Dua R,Gupta S

    更新日期:2013-07-01 00:00:00

  • Fine-needle aspiration cytology of chondroid syringoma of fore arm: Report of a rare case.

    abstract::Chondroid syringoma is a rare benign adnexal tumor of sweat glands with microscopic resemblance to the salivary gland pleomorphic adenoma. Cytology is rarely utilized for preoperative assessment of these slow-growing, small, nodular lesions. Definitive cytological diagnosis is also quite difficult, and majority of the...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.145659

    authors: Pal S,Sengupta S,Jana S,Bose K

    更新日期:2014-07-01 00:00:00

  • Cytological grading of breast cancers and comparative evaluation of two grading systems.

    abstract:AIM:To evaluate and compare the cytograding of breast cancers using Robinson's and Mouriquand's grading methods. MATERIALS AND METHODS:A 5-year retrospective (from Oct 2000 to Sept 2005) and 1-year prospective study (from Oct 2005 to Oct 2006). A total of 110 fine-needle aspiration cytology (FNAC) cases of breast canc...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.70738

    authors: Wani FA,Bhardwaj S,Kumar D,Katoch P

    更新日期:2010-04-01 00:00:00

  • Multicentric synchronous recurrent aggressive fibromatosis.

    abstract::Extra-abdominal desmoid tumors are known as aggressive fibromatosis (AFM). Synchronous and metachronous multicentric aggressive fibromatosis are rare lesions and pose dilemma in diagnosis and management. A rare and interesting case of recurrent multicentric, synchronous AFM is presented which to the best of our knowle...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.93227

    authors: Kohli K,Kawatra V,Khurana N,Jain S

    更新日期:2012-01-01 00:00:00

  • A rare tumor of salivary gland: Diagnostic Dilemma on fine needle aspiration cytology.

    abstract::Salivary gland cytopathology is a diagnostically challenging area with overlapping cytomorphological features between benign, malignant, and metastatic tumors. We report the case of 45-year-old male who presented with two swellings in right retroauricular and infraauricular region along with a palpable single right ce...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.203576

    authors: Agarwal C,Kaushal M,Bhardwaj M

    更新日期:2017-04-01 00:00:00

  • FNA diagnosis of CD99 positive neuroblastoma: A diagnostic dilemma.

    abstract::Tissue diagnosis of small round cell tumors relies heavily on immunohistochemical staining. Two of the small round cell tumors, namely neuroblastoma and primitive neuroectodermal tumor, have considerable morphologic overlap. Many studies suggest that CD99 positivity virtually excludes the diagnosis of neuroblastoma. W...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.97162

    authors: Kaur G,Bakshi P,Verma K

    更新日期:2012-04-01 00:00:00

  • Diagnostic utility of the cell block method versus the conventional smear study in pleural fluid cytology.

    abstract:BACKGROUND:The cytological examinations of serous effusions have been well-accepted, and a positive diagnosis is often considered as a definitive diagnosis. It helps in staging, prognosis and management of the patients in malignancies and also gives information about various inflammatory and non-inflammatory lesions. D...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.93210

    authors: Shivakumarswamy U,Arakeri SU,Karigowdar MH,Yelikar B

    更新日期:2012-01-01 00:00:00

  • Fine needle aspiration cytology of dermal cylindroma.

    abstract::In this paper, we have described fine needle aspiration cytology (FNAC) of a rare case of dermal cylindroma. A 40-year-old female presented with a lateral mid-cervical swelling fixed to the skin. FNAC smears showed multiple clusters of small, round to oval cells with hyperchromatic nuclei, inconspicuous nucleoli and s...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.151137

    authors: Gupta P,Dey P,Bal A

    更新日期:2014-10-01 00:00:00

  • Cytological diagnosis of collagenous spherulosis of breast.

    abstract::Collagenous spherulosis is a rare entity usually seen in association with benign breast lesions. It is often picked up incidentally with a reported incidence of about 0.2% in cytological material. There are very few reports describing cytomorphological features of collagenous spherulosis. To the best of our knowledge ...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.138683

    authors: Gokhale UA,Nanda A,Pillai GR

    更新日期:2014-04-01 00:00:00

  • Cyto-Histopathological Correlation of Skin Adnexal Tumors: A Short Series.

    abstract:Background:Skin adnexal neoplasms are relatively rare and thus uncommonly encountered in routine pathology practice. Aims:The present study was conducted with the aim to diagnose various skin adnexal tumors on fine-needle aspiration cytology (FNAC) followed by confirmation on histopathology and immunohistochemistry of...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/JOC.JOC_63_17

    authors: Arora A,Nanda A,Lamba S

    更新日期:2018-10-01 00:00:00

  • Correlation between the cytology of urine sediment in fresh sample and smears stained by Papanicolaou and Giemsa methods.

    abstract:BACKGROUND:Urine excreted by the body has a variable composition in different physiological and pathological conditions. The cells that come from the renal pelvis, ureters, bladder, and urethra are carried by the urine, and therefore, they can be observed in fresh samples and in smears with Giemsa and Papanicolaou stai...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.130666

    authors: Palaoro LA,Angerosa M

    更新日期:2014-01-01 00:00:00

  • Diagnostic Utility and Pitfalls of Tzanck Smear Cytology in Diagnosis of Various Cutaneous Lesions.

    abstract:Aims:Tzanck smear is an old but useful test for diagnosis of cutaneous dermatoses. The aim of this study was to highlight the potential usefulness and diagnostic pitfalls of Tzanck smear for diagnosis of cutaneous dermatoses and infections. Materials and Methods:This hospital based cross-sectional study was carried ou...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/JOC.JOC_88_16

    authors: Panwar H,Joshi D,Goel G,Asati D,Majumdar K,Kapoor N

    更新日期:2017-10-01 00:00:00

  • Role of fine-needle aspiration cytology in diagnosis of disseminated histoplasmosis in an immunocompetent patient: A case report.

    abstract::Histoplasmosis is a mycotic infection caused by dimorphic fungus, Histoplasma capsulatum. The organisms are usually found within the cells (macrophages). This organism mostly affects lungs in immunocompetent individuals and disseminated forms are seen in immunocompromised cases. Here, we describe a case of disseminate...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/JOC.JOC_74_16

    authors: Samantaray S,Panda S,Dash S,Rout N

    更新日期:2017-07-01 00:00:00

  • Pleural effusion: Role of pleural fluid cytology, adenosine deaminase level, and pleural biopsy in diagnosis.

    abstract:OBJECTIVE:The present study is designed to evaluate the role of pleural fluid analysis in diagnosing pleural diseases and to study the advantages and disadvantages of thoracocentasis and pleural biopsy. MATERIALS AND METHODS:We prospectively included 66 consecutive indoor patients over a duration of 1 year. Pleural fl...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.188062

    authors: Biswas B,Sharma SK,Negi RS,Gupta N,Jaswal VM,Niranjan N

    更新日期:2016-07-01 00:00:00

  • Cytomorphology of fibromatosis colli.

    abstract::Fibromatosis colli is a peculiar, benign fibrous growth of the sternocleidomastoid that usually appears during the first few weeks of life and is often associated with muscular torticollis. Fibromatosis colli (FC) is seen in children born after difficult, prolonged labor, assisted delivery, and breech deliveries. Clin...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.54869

    authors: Rajalakshmi V,Selvambigai G,Jaiganesh

    更新日期:2009-01-01 00:00:00

  • Evaluation of ploidy status using DNA-image cytometry of exfoliated mucosal cells in oral lichen planus.

    abstract:BACKGROUND:Oral lichen planus (OLP) is one of the potentially malignant disorders (PMDs) with a malignancy rate of 0.2-2%. Aneuploidy is considered to be one of the important markers for malignant transformation and DNA-image cytometry (DIC) has been successfully employed in oral mucosal PMDs and also in tumors of the ...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.145629

    authors: Chitturi RT,Nirmal RM,Sunil PM,Devy AS,Reddy BV

    更新日期:2014-07-01 00:00:00

  • Utility of manual liquid-based cytology and conventional smears in the evaluation of various fine-needle aspiration samples.

    abstract:BACKGROUND:Liquid-based cytology (LBC) preparation is a way to improve and refine the fine-needle aspiration (FNA) samples. There are a few studies comparing LBC with conventional smear (CS). AIM:The present study was undertaken to evaluate the utility of manual LBC (MLBC) and CS preparations in various FNA samples. ...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.190446

    authors: Arul P

    更新日期:2016-10-01 00:00:00

  • Cytological Profile of a Case of Malignant Mesothelioma of Pleura with Supraclavicular Lymph Node Metastasis.

    abstract::Malignant mesothelioma of pleura is a locally aggressive rare neoplasm of mesothelial cells, which produces distant metastasis in advanced stages of its course. It is exceptional for patients to present with metastasis prior to the detection of primary tumor in the pleura. Here, we report a case of malignant mesotheli...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.216123

    authors: Priya PV,Deepa S,Jayalakshmy PL

    更新日期:2017-10-01 00:00:00

  • Can the centrosome be a marker for DNA ploidy in breast cancer?

    abstract:BACKGROUND:The role of DNA ploidy in genomic instability of cancer cells and prognosis has been described in a number of studies. The role of the centrosome in cell cycle has also been reported. AIM:In this study, we aimed to investigate the correlation between the centrosome and DNA ploidy in breast cancer in a searc...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.97150

    authors: Sakr RA,Fleury J,Prengel C,Bernaudin JF,Uzan S,Rouzier R,Darai E

    更新日期:2012-04-01 00:00:00

  • Cytopathology practice in Kumasi: A 2-year retrospective audit.

    abstract:AIM:Surgical pathology service is generally unavailable in most developing countries and comes with challenges. Cytopathology is a reliable, inexpensive adjunct to surgical histopathology. We present a retrospective review of the various cytopathology cases received at the department. MATERIALS AND METHODS:A retrospec...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.197593

    authors: Duduyemi BM,Owusu-Afriyie O,Danquah KO,Osakunor DN

    更新日期:2017-01-01 00:00:00

  • A rare cytological diagnosis of primary non-Hodgkin lymphoma of the parotid gland.

    abstract::Primary lymphoma of the parotid gland is relatively rare and constitutes about 4-5% of extranodal lymphomas. The majority of them is non-Hodgkin lymphoma (NHL) and is B cell in nature. We report a case of primary diffuse large B-cell lymphoma (DLBCL) of the parotid gland in an elderly male. The case was diagnosed on f...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.182539

    authors: Dey B,Goyal V,Bharti JN,Mahajan N,Jain S

    更新日期:2016-04-01 00:00:00

  • Trucut Biopsy vs FNAC of Pelvic Tumors-Who Wins the Match?

    abstract::Preoperative pathologic diagnosis of pelvic tumors is mandatory for proper management of patients like neoadjuvant chemotherapy and interval debulking. Currently there are many minimally invasive methods available which include fine-needle aspiration cytology (FNAC) and trucut biopsy, mostly complimentary to each othe...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/JOC.JOC_63_18

    authors: Kar A,Satapathy B,Pattnaik K,Dash PK

    更新日期:2018-07-01 00:00:00

  • Cytodiagnosis of herpes simplex mastitis: Report of a rare case.

    abstract::Herpes simplex virus (HSV) is a rare cause of breast infection. Few cases of maternal-infant transmission of the virus during breastfeeding resulting in nipple lesions have been documented. Only three cases have been reported in nonlactating women. We report an additional case of HSV mastitis in a 36-year-old nonlacta...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.62185

    authors: Mardi K,Gupta N,Sharma S,Gupta S

    更新日期:2009-10-01 00:00:00

  • Cutaneous metastases of prostatic adenocarcinoma.

    abstract::Prostatic adenocarcinoma (PA) is a common visceral malignancy of elderly men. Cutaneous metastasis of PA is rare. The incidence is <1%. A 55-year-old man presented with urinary symptoms and multiple cutaneous nodules around suprapubic region, inner aspect of both thighs and scrotum. Fine-needle aspiration cytology (FN...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.160568

    authors: Patne SC,Naik B,Patnaik P,Trivedi S

    更新日期:2015-04-01 00:00:00

  • Histopathological Review of Diagnostic Categories of the Bethesda System for Reporting Thyroid Cytopathology - An Institutional Experience of 5 Years.

    abstract:Context:Fine needle aspiration (FNA) plays a crucial role in the evaluation of patients with thyroid lesions. The Bethesda system for reporting thyroid cytopathology (TBSRTC) was designed with a mission to standardize the process of diagnosis and management of thyroid lesions by FNA cytology (FNAC). Aim:We aim to see ...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/JOC.JOC_64_18

    authors: Upadhyaya P,Dhakal S,Adhikari P,Adhikari B,Khadka D,Niraula SR

    更新日期:2019-01-01 00:00:00

  • Cytomorphometric analysis of the gingival epithelium in type 2 diabetic patients with and without smoking habit.

    abstract:BACKGROUND:It has been shown that cigarette smoking as well as diabetes mellitus can produce cytomorphometric alterations in oral epithelial cells with the significant increase in the nuclear area (NA) and significant decrease in the cytoplasmic/nuclear ratio in comparison to healthy control. However, the synergistic e...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.112653

    authors: Patel PV,Gujjari SK

    更新日期:2013-04-01 00:00:00

  • Micronucleus and Its Significance in Effusion Fluids.

    abstract:Background:Micronucleus (MN) is an extranuclear body within the cell formed due to failure of incorporation of whole chromosomes or their fragments during cell division. MN scoring can be done to identify malignant effusions. Aims:This study aimed to score micronuclei to distinguish malignant effusion from benign effu...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/JOC.JOC_42_19

    authors: Jayakumar D,Kasturi KK

    更新日期:2020-01-01 00:00:00

  • Evaluation of Role of Intraoperative Cytology Technique in Diagnosis and Management of Cancer.

    abstract:Context:Intraoperative pathological assessment provides valuable information in a patient's diagnosis and management. Touch imprint/crush cytology is simple, rapid, and cost-effective. Also, imprint smears give excellent cytomorphology. Aims:To assess the utility and feasibility of intraoperative cytology technique as...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/JOC.JOC_94_19

    authors: Jaiswal YP,Gadkari RU

    更新日期:2020-07-01 00:00:00

  • Critical appraisal of FNAC in the diagnosis of primary papillary carcinoma arising in thyroglossal cyst: A case report with review of the literature on FNAC and its diagnostic pitfalls.

    abstract::The incidence of primary papillary carcinoma arising in thyroglossal cyst is rare and occurs in <1% of thyroglossal cysts. Even rarer is its diagnosis by pre-operative fine needle aspiration cytology (FNAC). Only 15 such cases diagnosed by FNAC have been previously reported in the literature. In this article, cytomorp...

    journal_title:Journal of cytology

    pub_type:

    doi:10.4103/0970-9371.66697

    authors: Agarwal K,Puri V,Singh S

    更新日期:2010-01-01 00:00:00

  • Quantitative cytomorphometric analysis of exfoliated normal gingival cells.

    abstract:BACKGROUND:The use of oral exfoliative cytology as a diagnostic aid accentuates the need for establishing an accurate baseline, thereby enabling the comparison of abnormal oral tissue with established baseline. AIMS AND OBJECTIVE:To detect any changes in the nuclear area (NA), cytoplasmic area (CA), and nuclear:cytopl...

    journal_title:Journal of cytology

    pub_type: 杂志文章

    doi:10.4103/0970-9371.80745

    authors: Patel PV,Kumar S,Kumar V,Vidya G

    更新日期:2011-04-01 00:00:00