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4.
Histopathology ; 84(4): 601-613, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38032062

ABSTRACT

BACKGROUND AND AIMS: ChatGPT is a powerful artificial intelligence (AI) chatbot developed by the OpenAI research laboratory which is capable of analysing human input and generating human-like responses. Early research into the potential application of ChatGPT in healthcare has focused mainly on clinical and administrative functions. The diagnostic ability and utility of ChatGPT in histopathology is not well defined. We benchmarked the performance of ChatGPT against pathologists in diagnostic histopathology, and evaluated the collaborative potential between pathologists and ChatGPT to deliver more accurate diagnoses. METHODS AND RESULTS: In Part 1 of the study, pathologists and ChatGPT were subjected to a series of questions encompassing common diagnostic conundrums in histopathology. For Part 2, pathologists reviewed a series of challenging virtual slides and provided their diagnoses before and after consultation with ChatGPT. We found that ChatGPT performed worse than pathologists in reaching the correct diagnosis. Consultation with ChatGPT provided limited help and information generated from ChatGPT is dependent on the prompts provided by the pathologists and is not always correct. Finally, we surveyed pathologists who rated the diagnostic accuracy of ChatGPT poorly, but found it useful as an advanced search engine. CONCLUSIONS: The use of ChatGPT4 as a diagnostic tool in histopathology is limited by its inherent shortcomings. Judicious evaluation of the information and histopathology diagnosis generated from ChatGPT4 is essential and cannot replace the acuity and judgement of a pathologist. However, future advances in generative AI may expand its role in the field of histopathology.


Subject(s)
Artificial Intelligence , Pathologists , Humans , Biopsy , Referral and Consultation , Software
6.
Ann Dermatol ; 35(1): 61-65, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36750460

ABSTRACT

Anti-p200 pemphigoid is an uncommon subepidermal autoimmune bullous disease that, unlike many other autoimmune bullous diseases, has not previously been associated with hematological diseases. The diagnosis of anti-p200 pemphigoid in a patient with congruent clinical features requires the demonstration of subepidermal blistering, with linear deposition of immunoglobulin (Ig) G and/or C3 at the dermoepidermal junction on direct immunofluorescence, and a floor-binding pattern on indirect immunofluorescence. In addition, the detection of antibodies against p200 antigen via immunoblotting is ideal but not readily accessible in many facilities, leading to a potential under-recognition and under-diagnosis of this condition. In this case report, we describe a 53-year-old gentleman with recently diagnosed acquired hemophilia A who developed a concurrent vesiculobullous eruption and was evaluated to have anti-p200 pemphigoid. Both of his conditions were controlled with immunosuppression via prednisolone and cyclophosphamide. While we acknowledge the contemporaneous occurrence of both diseases in this patient may be a mere coincidence, it is important to recognize the possibility of this association given the potential clinical significance. Whether the activity of one disease parallels the other will require further evaluation.

7.
J Neuromuscul Dis ; 10(1): 91-106, 2023.
Article in English | MEDLINE | ID: mdl-36463458

ABSTRACT

AIM: We describe a cohort of five patients with limb-girdle muscular dystrophy (LGMD) 2G/LGMD-R7 in a South-east Asian cohort. BACKGROUND: LGMD2G/LGMD-R7-telethonin-related is caused by mutations in the TCAP gene that encodes for telethonin. METHODS: We identified consecutive patients with LGMD2G/LGMD-R7-telethonin-related, diagnosed at the National Neuroscience Institute (NNI) and National University Hospital (NUH) between January 2000 and June 2021. RESULTS: At onset, three patients presented with proximal lower limb weakness, one patient presented with Achilles tendon contractures, and one patient presented with delayed gross motor milestones. At last follow up, three patients had a limb girdle pattern of muscle weakness and two had a facioscapular humeral pattern of weakness. Whole body muscle MRI performed for one patient with a facioscapular-humeral pattern of weakness showed a pattern of muscle atrophy similar to facioscapular-humeral dystrophy. One patient had histological features consistent with myofibrillar myopathy; electron microscopy confirmed the disruption of myofibrillar architecture. One patients also had reduced staining to telethonin antibody on immunohistochemistry. CONCLUSION: We report the unique clinical and histological features of a Southeast Asian cohort of five patients with LGMD2G/LGMD-R7-telethonin-related muscular dystrophy and further expand its clinical and histopathological spectrum.


Subject(s)
Muscular Dystrophies, Limb-Girdle , Southeast Asian People , Humans , Connectin/genetics , Muscular Dystrophies, Limb-Girdle/diagnostic imaging , Muscular Dystrophies, Limb-Girdle/genetics , Muscle Weakness
8.
J Hand Surg Am ; 47(10): 988-997, 2022 10.
Article in English | MEDLINE | ID: mdl-36050195

ABSTRACT

Pigmented nail lesions are challenging problems. The differential diagnosis is broad and ranges from common self-limiting conditions, such as subungual hematoma and infection, to potentially fatal conditions, such as subungual melanoma. Clinical assessment and adjuncts, such as dermoscopy and imaging, are usually insufficient to establish a diagnosis, and a nail bed biopsy is often required. However, this is not an innocuous procedure and may result in permanent nail deformity. In addition, subjecting every patient with nail pigmentation to a biopsy will result in an unacceptably high rate of negative test results. Furthermore, histopathologic diagnosis of subungual melanoma remains challenging for several reasons. Once the diagnosis of subungual melanoma is established, the definitive treatment is controversial because the existing guidelines have largely been adapted from those for cutaneous melanoma. This review presents an approach to the diagnosis and management of pigmented subungual lesions and subungual melanoma, in particular, on the basis of the latest available evidence.


Subject(s)
Melanoma , Nail Diseases , Skin Neoplasms , Biopsy , Diagnosis, Differential , Humans , Melanoma/diagnosis , Melanoma/pathology , Melanoma/surgery , Nail Diseases/diagnosis , Nail Diseases/surgery , Nails/pathology , Nails/surgery , Skin Neoplasms/diagnosis , Skin Neoplasms/pathology , Skin Neoplasms/surgery , Syndrome
10.
Int Heart J ; 62(1): 186-192, 2021.
Article in English | MEDLINE | ID: mdl-33518658

ABSTRACT

Dysferlin is a sarcolemmal protein present in muscle cells. It is responsible for muscle membrane repair. Dysferlin gene (DYSF) mutation, resulting in deficiency in this protein, is termed dysferlinopathy. Clinically, it manifests as early adulthood onset of muscle weakness with markedly elevated creatine kinase levels. The main phenotypes are limb-girdle muscular dystrophy type 2B (LGMD2B), affecting proximal muscles, and Miyoshi myopathy (MM), affecting distal muscles. Dysferlin is also present in cardiomyocytes, and case reports have emerged of cardiac abnormalities in dysferlinopathy. While routine methods of cardiac screening, namely, electrocardiography or echocardiography, are convenient and noninvasive, they often exhibit insufficient diagnostic sensitivity for detecting subclinical cardiac remodeling during early stages of cardiomyopathy. Cardiac magnetic resonance imaging though can provide accurate assessment of cardiac chamber sizes and function. With gadolinium administration, it can also detect areas of myocardial scarring and fibrosis. Early diagnosis of neuromuscular disease-related cardiomyopathy is of clinical significance, as appropriate treatment can retard myocardial fibrosis, delaying cardiomyopathy progression. We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy.


Subject(s)
Cardiac Imaging Techniques , Cardiomyopathies/etiology , Distal Myopathies/complications , Gadolinium , Magnetic Resonance Imaging , Muscular Atrophy/complications , Adult , Cardiomyopathies/diagnostic imaging , Female , Humans
14.
Australas J Dermatol ; 61(3): e346-e350, 2020 Aug.
Article in English | MEDLINE | ID: mdl-31965571

ABSTRACT

We report an unusual case of drug-associated granulomatous CD30+ T-cell pseudolymphoma secondary to amlodipine. A 55-year-old Chinese man presented with a 6-month eruption of disseminated erythematous dermal papulonodules and annular infiltrated plaques over his neck and limbs symmetrically. Histopathology revealed a perivascular and interstitial infiltrate of histiocytes, eosinophils and morphologically normal lymphocytes associated with CD30 expression. The eruption improved rapidly after discontinuation of amlodipine and did not recur.


Subject(s)
Amlodipine/adverse effects , Antihypertensive Agents/adverse effects , Granuloma/chemically induced , Pseudolymphoma/chemically induced , Drug Eruptions/etiology , Granuloma/pathology , Humans , Ki-1 Antigen/metabolism , Male , Middle Aged , Pseudolymphoma/pathology , T-Lymphocytes/metabolism
15.
J Cutan Pathol ; 47(6): 548-553, 2020 Jun.
Article in English | MEDLINE | ID: mdl-31943330

ABSTRACT

Perivascular epithelioid cell tumors (PEComas) are a group of lesions sharing the common features of co-expression of melanocytic and myogenic markers, with focal association of the cells with vascular walls. The PEComa group exhibits a wide range of morphologies. A "fibroma-like" variant of PEComa has been recently described. The case reported herein is that of an infant with tuberous sclerosis complex (TSC) presenting with a lip mass. Excisional biopsy showed a moderately cellular tumor composed of spindled to stellate cells embedded within a collagenized stroma. The cells showed focal perivascular accumulation and positivity for both melanocytic (HMB-45) and myogenic (desmin) markers. This is the fifth reported case of "fibroma-like" PEComa in literature and the youngest patient to date. All of the "fibroma-like" PEComas were found in patients with tuberous sclerosis-hence, the diagnosis of this entity should prompt a workup for TSC; conversely, a fibroma-like lesion in a patient with TSC or with TSC-related conditions should be evaluated using melanocytic and myogenic markers. Melanocytic and myogenic markers are also useful in differentiating "fibroma-like" PEComa from other differential diagnoses such as fibroma and benign fibrous histiocytoma.


Subject(s)
Neoplasms, Fibrous Tissue/pathology , Perivascular Epithelioid Cell Neoplasms/metabolism , Perivascular Epithelioid Cell Neoplasms/pathology , Tuberous Sclerosis/complications , Adult , Asian People/ethnology , Biomarkers, Tumor/metabolism , Biopsy , Child, Preschool , Desmin/metabolism , Diagnosis, Differential , Female , Fibroma/pathology , Humans , Infant , Male , Melanoma-Specific Antigens/metabolism , Middle Aged , Perivascular Epithelioid Cell Neoplasms/diagnosis , Perivascular Epithelioid Cell Neoplasms/surgery , Skin Neoplasms/pathology , gp100 Melanoma Antigen
17.
Clin Case Rep ; 7(12): 2414-2416, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31893071

ABSTRACT

Childhood rosacea presents a diagnostic difficulty due to the lack of diagnostic criteria and potential mimics. Ocular involvement is a frequent complication of rosacea in children and may appear before cutaneous findings. It is important for clinicians to be aware of these and to screen patients appropriately in order for timely treatment to be instituted.

19.
Case Rep Dermatol ; 9(1): 131-134, 2017.
Article in English | MEDLINE | ID: mdl-28559811

ABSTRACT

Oral lichen planus (LP) is a common manifestation in patients with LP; however, isolated lip LP is rare and may mimic other conditions such as lichenoid drug eruptions, actinic cheilitis, and early carcinoma in situ in the absence of typical skin lesions. Actinic lichen planus (ALP) is a variant of LP occurring on light-exposed areas in patients with dark skin. We report the case of a Chinese female with isolated ALP of the lower lip, mimicking herpes simplex infection at presentation. The presence of prognathism, involvement of the lower lip, and flares associated with sunlight reinforces the role of sun exposure in the development of this condition.

20.
Dermatol Online J ; 23(5)2017 May 15.
Article in English | MEDLINE | ID: mdl-28537867

ABSTRACT

Basaloid follicular hamartoma (BFH) is a rare benign adnexal tumor with variable clinical presentation. We report a case of a 64-year-old man, who presented with an incidental finding of a 3mm hyperpigmented macule on his cheek. Dermoscopy revealed a structureless blue lesion. Histopathology examination showed interconnecting lobules and cords of bland pigmented epithelial cells within the dermal stroma, with the presence of pseudohorncysts. The lesional cells were faintly positive for Bcl2on immunohistochemical staining. These findings were consistent with basaloid follicular hamartoma. Histological differential diagnoses include benign lesions such as trichoepithelioma, and malignant lesions such as basal cell carcinoma (BCC).


Subject(s)
Hamartoma/diagnosis , Hamartoma/pathology , Skin Diseases/diagnosis , Skin Diseases/pathology , Dermoscopy , Diagnosis, Differential , Humans , Male , Middle Aged , Neoplasms, Basal Cell/diagnosis , Skin Neoplasms/diagnosis
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