scholarly journals Clinical Findings and Genetic Expression Profiling of Three Pigmented Lesions of the Optic Nerve

2015 ◽  
Vol 2015 ◽  
pp. 1-7
Author(s):  
Manuel A. de Alba ◽  
Victor M. Villegas ◽  
Aaron S. Gold ◽  
Andrea Wildner ◽  
Fiona J. Ehlies ◽  
...  
Keyword(s):  
Expression Profiling ◽  
Case Series ◽  
Needle Aspiration ◽  
Clinical Findings ◽  
Optic Disk ◽  
Posterior Chamber ◽  
Diagnostic Challenge ◽  
Intravitreal Triamcinolone ◽  
Genetic Expression ◽  
Pigmented Lesions

Background. Optic disk melanocytoma is a primary tumor of the optic disk that represents a clinical diagnostic challenge due to its similarities with melanoma.Purpose. The authors present three cases in which genetic expression profiling was used to identify tumor prognosis of optic disk melanocytoma.Case Series. In two cases fine-needle aspiration biopsy was performed to obtain tissue through a transvitreal route into the apex of the tumor while the patient underwent pars plana vitrectomy, laser ablation, phacoemulsification with posterior chamber intraocular lens implantation, and intravitreal triamcinolone acetonide. In the other case the tissue was obtained after definite enucleation.Conclusion. Genetic expression profiling is a useful diagnostic tool for classification and can provide vital information to the ocular oncologist regarding prognosis.

Five-Year Follow-up of Microincisional Vitrectomy Surgery, Endolaser Tumor Ablation, and Gene-Expression Profiling in Small Uveal Melanoma

2020 ◽  
pp. 247412642097287
Author(s):  
Timothy G. Murray ◽  
Victor M. Villegas ◽  
Austin Bach ◽  
Aaron S. Gold
Keyword(s):  
Uveal Melanoma ◽  
Choroidal Melanoma ◽  
Case Series ◽  
Subretinal Fluid ◽  
Molecular Classification ◽  
Needle Aspiration ◽  
Tumor Ablation ◽  
Tumor Control ◽  
Intravitreal Triamcinolone

Purpose: This work evaluates a microincisional vitrectomy surgical (MIVS) approach to endolaser ablation of small uveal malignant melanoma by incorporating genetic tumor classification as a means to avoid radiotherapy while maintaining local tumor control without compromising visual acuity (VA). Methods: An institutional review board–approved, single-surgeon, retrospective analysis was conducted of a consecutive case series of all patients with tumors less than 2.5 mm in apical thickness who underwent MIVS, endolaser tumor ablation, fine-needle aspiration biopsy (FNAB), and intravitreal triamcinolone acetonide for small uveal melanoma between 2012 and 2015. Results: A total of 226 patients underwent FNAB from January 2012 to January 2015 for uveal melanoma. All 58 patients treated for a small uveal melanoma were included. This group of patients had a minimum follow-up of 60 months (range, 60-93 months). At initial diagnosis, subretinal fluid was present in 52 eyes (89.1%), macular edema was present in 24 eyes (41.4%), and epiretinal membrane was present in 11 eyes (20.1%). Fifty-six specimens (96.5%) received a molecular classification of either class 2 (4 of 56, 7.1%) or class 1 (52 of 56, 92.8%). Initial VA was 20/40 or better in 26 eyes (44.8%), and final VA was 20/40 or better in 48 of 58 eyes (82.8%). Conclusions: Endolaser tumor ablation delivered at MIVS surgery enables excellent tumor control (98.3%) and improves VA to better than 20/40 in more than 80% of treated eyes. FNAB achieves molecular classification in 96.5% of all patients undergoing treatment for small choroidal melanoma independent of tumor size.

scholarly journals A Clinical Study on Malignant Neoplastic Thyroid Swellings

2020 ◽  
Vol 7 (49) ◽  
pp. 2928-2932
Author(s):  
Sumanth Mandava ◽  
Tarun Chowdary Gogineni ◽  
Vasu Reddy Challa ◽  
Karthik Santosh Appaji ◽  
Sriphani Reddy Puvvala ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Histopathological Examination ◽  
Statistical Significance ◽  
Surgical Oncology ◽  
Needle Aspiration ◽  
Clinical Findings ◽  
Diagnostic Challenge ◽  
Chi Square ◽  
Thyroid Swelling ◽  
Thyroid Malignancies

BACKGROUND More thyroid malignancy cases occur in women. FNAC (Fine Needle Aspiration Cytology) and histopathology play a key role in resolving this diagnostic challenge. A study was conducted to correlate the age, gender parameters with the clinical findings in thyroid malignancies by considering the histopathological examination (HPE) as the gold standard. METHODS It was a prospective study conducted in the department of Surgical Oncology, GSL Medical College, Rajahmundry, Malignant thyroid neoplasm individuals of any age, either gender who were fit thyroidectomy were included in the study. FNAC of the thyroid gland and lymph nodes was done. Data was analyzed using SPSS 21.0. Chi square test was used to find the statistical significance. P > 0.05 was considered to be statistically significant. RESULTS In this study, 52 HPE proven cases were studied, female male ratio was 5.5. Majority (28.8 %) of the study subjects were belong to 21 – 30 years. Majority (36.5 %) of the study volunteers had swelling for < 3 months and right side swelling was common. Papillary thyroid carcinoma (PCT) was common. CONCLUSIONS Thyroid carcinoma was common among females and PCT was common. FNAC contributed significantly to the preoperative investigation in thyroid swelling patients but despite its well-recognized value there are limitations to the technique. KEYWORDS Thyroid, Swelling, Carcinoma, Age

scholarly journals IgG4-related intracranial disease

2018 ◽  
Vol 32 (1) ◽  
pp. 29-35 ◽  
Author(s):  
Shahine Goulam-Houssein ◽  
Jeffrey L Grenville ◽  
Katerina Mastrocostas ◽  
David G Munoz ◽  
Amy Lin ◽  
...  
Keyword(s):  
Plasma Cells ◽  
Surgical Intervention ◽  
Case Series ◽  
Hypertrophic Pachymeningitis ◽  
Diagnostic Challenge ◽  
Perineural Spread ◽  
Related Disease ◽  
The Third ◽  
Igg4 Related Disease ◽  
Intracranial Involvement

IgG4-related disease (IgG4-RD) is a multi-organ chronic inflammatory process caused by infiltration of IgG4-positive plasma cells in one or more organs. Intracranial involvement has only recently become better recognized. Our case series adds to the growing literature on the varying presentations of intracranial IgG4 by describing the clinical and imaging findings of three patients who presented to our institution with intracranial involvement. Our first patient presented with a mass-forming IgG4 pachymeningitis mimicking a sphenoid wing meningioma, which is to our knowledge the largest mass-forming pachymeningitis published in the literature. Our second case depicts another presentation of extensive IgG4 pachymeningitis involving both cavernous sinuses and surrounding Meckel’s caves. The third case describes a patient with presumed lymphocytic hypophysitis, which was later determined to be IgG4-related hypophysitis with concomitant pachymeningitis and perineural spread along the optic nerves. The delayed diagnoses in our cases illustrates the diagnostic challenge that clinicians face in differentiating intracranial IgG4-RD from other infiltrative diseases such as sarcoidosis, granulomatous disease, tuberculosis and lymphoma. Earlier consideration of IgG4-related hypophysitis and hypertrophic pachymeningitis in the differential diagnosis can prevent significant morbidity including unnecessary surgical intervention and organ failure secondary to extensive fibrosis.

scholarly journals Atypical Clinical Presentation of Laryngopharyngeal Reflux: A 5-Year Case Series

2021 ◽  
Vol 10 (11) ◽  
pp. 2439
Author(s):  
Jerome R. Lechien ◽  
Stéphane Hans ◽  
Francois Bobin ◽  
Christian Calvo-Henriquez ◽  
Sven Saussez ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Laryngopharyngeal Reflux ◽  
Case Series ◽  
Clinical Findings ◽  
Aerodigestive Tract ◽  
Common Disease ◽  
Upper Aerodigestive Tract ◽  
Suppurative Otitis Media ◽  
Adequate Treatment ◽  
Atypical Clinical Presentation

Background: Laryngopharyngeal reflux (LPR) is a common disease in otolaryngology characterized by an inflammatory reaction of the mucosa of the upper aerodigestive tract caused by digestive refluxate enzymes. LPR has been identified as the etiological or favoring factor of laryngeal, oral, sinonasal, or otological diseases. In this case series, we reported the atypical clinical presentation of LPR in patients presenting in our clinic with reflux. Methods: A retrospective medical chart review of 351 patients with LPR treated in the European Reflux Clinic in Brussels, Poitiers and Paris was performed. In order to be included, patients had to report an atypical clinical presentation of LPR, consisting of symptoms or findings that are not described in the reflux symptom score and reflux sign assessment. The LPR diagnosis was confirmed with a 24 h hypopharyngeal-esophageal impedance pH study, and patients were treated with a combination of diet, proton pump inhibitors, and alginates. The atypical symptoms or findings had to be resolved from pre- to posttreatment. Results: From 2017 to 2021, 21 patients with atypical LPR were treated in our center. The clinical presentation consisted of recurrent aphthosis or burning mouth (N = 9), recurrent burps and abdominal disorders (N = 2), posterior nasal obstruction (N = 2), recurrent acute suppurative otitis media (N = 2), severe vocal fold dysplasia (N = 2), and recurrent acute rhinopharyngitis (N = 1), tearing (N = 1), aspirations (N = 1), or tracheobronchitis (N = 1). Abnormal upper aerodigestive tract reflux events were identified in all of these patients. Atypical clinical findings resolved and did not recur after an adequate antireflux treatment. Conclusion: LPR may present with various clinical presentations, including mouth, eye, tracheobronchial, nasal, or laryngeal findings, which may all regress with adequate treatment. Future studies are needed to better specify the relationship between LPR and these atypical findings through analyses identifying gastroduodenal enzymes in the inflamed tissue.

Diagnosis and management of hook of hamate fractures

2017 ◽  
Vol 43 (5) ◽  
pp. 539-545 ◽  
Author(s):  
Assaf Kadar ◽  
Allen T. Bishop ◽  
Marissa A. Suchyta ◽  
Steven L. Moran
Keyword(s):  
Case Series ◽  
Clinical Results ◽  
Clinical Findings ◽  
Advanced Imaging ◽  
Level Of Evidence ◽  
Historical Case ◽  
Treatment Groups ◽  
Diagnosis And Management ◽  
Time To Diagnosis ◽  
Hook Of Hamate

The purpose of this study was to evaluate the time to diagnosis and management of hook of hamate fractures in an era of advanced imaging. We performed a retrospective study of 51 patients treated for hook of hamate fractures. Patients were sent a quickDASH questionnaire regarding the outcomes of their treatment. Hook of hamate fractures were diagnosed with advanced imaging at a median of 27 days. Clinical findings of hook of hamate tenderness had better sensitivity than carpal tunnel-view radiographs. Nonunion occurred in 24% of patients with non-operative treatment and did not occur in the operative group. Both treatment groups achieved good clinical results, with a grip strength of 80% compared with the non-injured hand and a median quickDASH score of 2. Advanced imaging improved the time to diagnosis and treatment compared to historical case series. Nonunion is common in patients treated non-operatively. Level of evidence: IV

Extra-nodal Rosai-Dorfman Disease Confined to Breast

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S41-S42
Author(s):  
E Ozluk ◽  
R Shackelford
Keyword(s):  
Plasma Cells ◽  
African American Woman ◽  
American Woman ◽  
Lymphocytic Infiltration ◽  
Needle Aspiration ◽  
Left Breast ◽  
Unknown Etiology ◽  
Diagnostic Challenge ◽  
Ductal Cells ◽  
Rosai Dorfman Disease

Abstract Introduction/Objective First described by Rosai and Dorfman in 1969, Rosai-Dorfman Disease (RDD) is an uncommon, idiopathic, reactive lymph node process with an unknown etiology. It may involve extra-nodal organs including the skin, bone, soft tissue, and eyes. However, breast involvement is rare and RDD confined to breast without nodal involvement is extremely uncommon. Methods Here we present a case of RDD confined to breast. The patient was a 51-year-old African American woman who was found to have an irregular, solid left breast mass on routine mammogram, which had speculated irregular margins and measured of 37.0 x 32.0 x 32.0 mm. She did not have any symptoms, nor any palpable lymph nodes. The clinician stated that the lesion was highly suspicious for a breast malignancy and requested a fine needle aspiration (FNA) of the mass, followed by total excision. Results An FNA was interpreted as atypical histiocytic cells in a mixed lymphoid background. Histopathologic examination revealed an ill-defined mass with sheets of histiocytes, plasma cells, and a mixed lymphocytic population, with occasional germinal centers. Some of the histiocytes were spindle shaped and associated with storiform collagen deposition. The histiocytes had single and multiple nuclei and exhibited occasional emperipolesis. Immunohistochemical staining with S100 diffusely highlighted the histiocytes, whereas CD1a was negative. CD3 and CD20 immunostains were positive for mixed-type lymphocytic infiltration. Cytokeratin staining was performed and reassuringly stained only the benign ductal cells. A diagnosis of RDD of the breast was made, based on these histopathologic findings. Conclusion We report an example of an extra-nodal RDD involving the mammary gland that was initially suspected to be breast carcinoma. RDD may still be a diagnostic challenge, especially in a patient with suspected carcinoma. It is the pathologist’s role to lead the clinician to the proper diagnosis and render a correct histopathologic diagnosis.

scholarly journals Improvement in the Detection of Cystic Metastatic Papillary Thyroid Carcinoma by Measurement of Thyroglobulin in Aspirated Fluid

2016 ◽  
Vol 2016 ◽  
pp. 1-6
Author(s):  
Yong Wang ◽  
Huan Zhao ◽  
Yi-Xiang J. Wang ◽  
Min-Jie Wang ◽  
Zhi-Hui Zhang ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Characteristic Curve ◽  
Needle Aspiration ◽  
Normal Serum ◽  
Papillary Thyroid ◽  
Diagnostic Challenge ◽  
Cutoff Value ◽  
Fine Needle ◽  
Minimum Detection Level

Cystic change in metastatic lymph nodes of papillary thyroid carcinoma (PTC) is a diagnostic challenge for fine needle aspiration (FNA) because of the scant cellularity. The aim of this study was to evaluate the measurement of thyroglobulin in fine needle aspirate (Tg-FNA) for detecting metastatic PTC in patients with cystic neck lesions and to validate the optimal cutoff value of Tg-FNA. A total of 75 FNA specimens of cystic lesions were identified, including 40 of metastatic PTC. Predetermined threshold levels of 0.04 (minimum detection level), 0.9, 10.0, and 77.0 ng/mL (maximum normal serum-Tg level) were used to evaluate the diagnostic accuracy of Tg-FNA for metastatic PTC detection. The areas under the receiver operating characteristic curve for diagnosing metastatic PTC of Tg-FNA values of 0.04, 0.9, 10.0, and 77.0 ng/mL were 0.5 (95% confidence interval [CI], 0.382–0.618), 0.645 (95% CI, 0.526–0.752), 0.945 (95% CI, 0.866–0.984), and 0.973 (95% CI, 0.907–0.996), respectively. With a cutoff value of 77.0 ng/mL, the combination of Tg-FNA and FNA cytology showed superior diagnostic power (97.5% sensitivity and 100% specificity) compared to FNA cytology alone (80% sensitivity and 100% specificity). We recommend a Tg-FNA cutoff of 77.0 ng/mL, the maximum normal serum-Tg level, for cystic neck lesions.

scholarly journals Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate

2017 ◽  
Vol 13 (2) ◽  
pp. 172-174 ◽  
Author(s):  
S. Koirala ◽  
A. Poudel ◽  
R. Basnet ◽  
K. Subedi
Keyword(s):  
Respiratory Rate ◽  
Pompe Disease ◽  
Clinical Findings ◽  
Diagnostic Challenge ◽  
Floppy Infant ◽  
History Of ◽  
Infantile Pompe Disease ◽  
High Index Of Suspicion ◽  
To Receive ◽  
Remote Part

Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We report a rare case from Nepal of infantile Pompe disease who presented with the history of fever and cough in the recent earthquake disaster camp at remote part of Sindhupalchowk, Nepal. He was being treated as a case of pneumonia.Pompe disease can be diagnosed clinically by taking detailed history and correlating the clinical findings during the presentation with other symptoms. In our case the normal respiratory rate, reduced Spo2 and presence of crackles dominated the hypotonia and was mistreated as pneumonia. High index of suspicion is necessary in diagnosing Pompe disease.

Sign in / Sign up

Export Citation Format

Share Document