scholarly journals Iris Melanoma in a Patient with Retinitis Pigmentosa

2021 ◽  
pp. 1-5
Author(s):  
Hiroshi Goto ◽  
Naoyuki Yamakawa

This report describes the histopathological findings of an iris melanoma that developed in a patient with retinitis pigmentosa (RP). A 66-year-old man was referred to our hospital with a diagnosis of iris tumor. He had a medical history of RP for over 25 years. His best corrected visual acuity at presentation was 20/20 (OD) and 20/200 (OS). Slit lamp examination revealed an iris melanocytoma in his right eye and a brown iris mass involving the pupil in his left eye. Ocular fundus examination of his right eye showed diffuse chorioretinal atrophy with attenuated retinal vessels and scattered pigment. A diagnosis of iris melanoma was made and enucleation of his left eyeball was performed. Histopathological examination of the eyeball showed an iris tumor with proliferation of spindle cells positive for Melan-A, HMB-45, and S-100 protein by immunohistochemistry. Diffuse destruction of retinal architecture was observed, with loss of outer segment and replacement by glial cells. Accumulation of melanin pigment around retinal vessels was found in peripheral retina. These histopathological findings were compatible with advanced stage of RP. This case demonstrates that iris melanoma can occur in eye with RP.

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Samir M. Amer ◽  
Aijan Ukudeyeva ◽  
Harold S. Pine ◽  
Gerald A. Campbell ◽  
Cecilia G. Clement

Introduction. Plexiform schwannoma is a rare variant of schwannoma that accounts for only 5% of all schwannomas. Herein, we present a rare case of plexiform schwannoma of the tongue in a pediatric patient with neurofibromatosis type 2 (NF2). Case Presentation. A 13-year-old female presented with a growing left-sided tongue mass. The patient has a past medical history of NF2. The tongue mass was excised and histopathological examination revealed a spindle cell tumor with multinodular growth pattern, with Verocay bodies' formation. Tumor cells were strongly positive for S-100 protein and negative for smooth muscle actin (SMA), and EMA highlighted perineural fibroblasts surrounding tumor nodules. These findings were diagnostic of plexiform schwannoma. Conclusion. Plexiform schwannoma of the tongue is an extremely rare tumor seen in patients with NF2. Clinical examination and histopathological evaluation are important for diagnosis of plexiform schwannoma.


2021 ◽  
Author(s):  
Yuting Gong ◽  
Honghe Xia ◽  
anlin zhang ◽  
LiJia Chen ◽  
Haoyu Chen

Abstract Purpose: Several parameters on optical coherence tomography (OCT) have been suggested as biomarkers for photoreceptor degeneration in retinitis pigmentosa (RP). This study is to investigate which OCT parameters can serve as the earliest biomarkers in RP.Methods: OCT line scans of the horizontal meridian were conducted in 22 eyes of 22 RP patients and 30 eyes of 30 healthy controls. Longitudinal reflectance profiles were obtained using ImageJ at every 5 pixels. The following parameters on OCT were quantitatively measured: 1) relative optical intensity (ROI) of ellipsoid zone (EZ) and interdigitation zone (IZ); 2) thickness of outer nuclear layer (ONLT), photoreceptor (PRT), inner segment (IST) and outer segment (OST). The variations of these parameters across different regions were analyzed. Results: From fovea to peripheral retina, all the OCT biomarkers declined before disappeared, except IST and IZ-ROI. There was no identifiable declining zone for the IST and IZ-ROI between the normal and disappeared zones. The earliest biomarker was the shortening of OST and reduced IZ-ROI, followed by the shortening of PRT, EZ-ROI, then IST, and finally, ONLT. All these biomarkers had significant correlations with best-corrected visual acuity, except ONLT.Conclusion: In retinitis pigmentosa, EZ-ROI, IZ-ROI, PRT, OST, IST and ONLT are valuable biomarkers of photoreceptor degeneration. OST and IZ-ROI may serve as the earliest biomarkers.


VASA ◽  
2011 ◽  
Vol 40 (3) ◽  
pp. 251-255 ◽  
Author(s):  
Gruber-Szydlo ◽  
Poreba ◽  
Belowska-Bien ◽  
Derkacz ◽  
Badowski ◽  
...  

Popliteal artery thrombosis may present as a complication of an osteochondroma located in the vicinity of the knee joint. This is a case report of a 26-year-old man with symptoms of the right lower extremity ischaemia without a previous history of vascular disease or trauma. Plain radiography, magnetic resonance angiography and Doppler ultrasonography documented the presence of an osteochondrous structure of the proximal tibial metaphysis, which displaced and compressed the popliteal artery, causing its occlusion due to intraluminal thrombosis..The patient was operated and histopathological examination confirmed the diagnosis of osteochondroma.


2020 ◽  
Vol 23 (1) ◽  
pp. 10-12
Author(s):  
Nelema Jahan ◽  
Md. Mamunur Rahman ◽  
Mohammad Shahidul Alam ◽  
Md Saiful Islam

Background: A breast lump is the most common symptom associated with both benign and malignant breast diseases. Therefore, a distinction of benign from malignant lump is of importance for proper management. Though a definitive diagnosis is possible with imaging for all the lesions, histopathological study is proven essential for confirming the diagnosis. Objective: The objective of this study was to evaluate the role of USG and histopathological findings of different breast lump in diagnosis and their comparison. Methods: A prospective study was conducted over a period of one year from January 2017 to December 2017. A total of 116 patients were included in this study. All breast lumps underwent surgery and the ultrasound findings of these lumps were compared with the histopathological findings. Data were collected from these patients by a preformed questionnaire and finally the data were analyzed. Results: Out of 116 patients only 21 cases were reported as malignant in ultrasound report but histopathology revealed 31 malignant patients. On histopathological examination 10 benign cases turned out to be malignant. Conclusion: The present study was undertaken to evaluate in diagnosing breast mass lesions individually by ultrasound and compared with histopathology for definitive management of a patient. Journal of Surgical Sciences (2019) Vol. 23 (1) : 10-12


Author(s):  
K Thuraikumar ◽  
V Naveen ◽  
Mustaqim A ◽  
Arieff AA ◽  
K Shri ◽  
...  

Introduction: Spinal tuberculosis is the most common manifestation of extrapulmonar y tuberculosis. A combination of leprosy and tuberculosis is a rare entity.Case report: A 44-year-old male patient working as a laborer presented to our hospital with complaints of severe back pain and swelling over the back, difficulty in walking, associated with constitutional symptoms. On admission, he was febrile and had leukocytosis. Initial spine X-ray showed end plate destruction and increase in soft tissue shadow at the level of T8-T9. CT spine revealed thoracic paravertebral collection extending from T7 to T9 levels, suggest ive of tuberculous spondylitis with cold abscess. Patient refused a transpedicular biopsy and was started on anti-tubercular therapy. Two weeks after commencement of treatment, he developed worsening back pain and weakness of the lower extremities. MRI spine showed a paravertebral abscess and posterior soft tissue edema involving level of T7 to T11. Patient underwent a posterior decompression, debridement and posterior instrumentation. He was discharged well, there was improvement of his lower limb power. Upon clinic review, he complained of multiple hyperpigmented, painless, nonpruritic skin lesions over the trunk and back. No previous history of eczema, psoriasis and Tinea corporis. Given the history of allergy, initial impression was hypersensitivity reaction towards the titanium implants, and he was started on anti-histamines. However, there was no improvements seen. Histopathological examination of skin lesions revealed presence of granuloma within the dermis layer, composed of epitheloid, histiocytes, lymphocytes and plasma cells. Wade-Fite stain for Mycobacterium leprae is positive. Slit skin smear shows multibacillary leprosy. Patient was started on multidrug therapy (rifampicin, clofazimine and dapsone) for 1 year. He has recovered well.International Journal of Human and Health Sciences Supplementary Issue: 2019 Page: 33


Author(s):  
Sabina Strano-Rossi ◽  
Serena Mestria ◽  
Giorgio Bolino ◽  
Matteo Polacco ◽  
Simone Grassi ◽  
...  

AbstractScopolamine is an alkaloid which acts as competitive antagonists to acetylcholine at central and peripheral muscarinic receptors. We report the case of a 41-year-old male convict with a 27-year history of cannabis abuse who suddenly died in the bed of his cell after having smoked buscopan® tablets. Since both abuse of substances and recent physical assaults had been reported, we opted for a comprehensive approach (post-mortem computed tomography CT (PMCT), full forensic autopsy, and toxicology testing) to determine which was the cause of the death. Virtopsy found significant cerebral edema and lungs edema that were confirmed at the autopsy and at the histopathological examination. Scopolamine was detected in peripheral blood at the toxic concentration of 14 ng/mL in blood and at 263 ng/mL in urine, and scopolamine butyl bromide at 17 ng/mL in blood and 90 ng/mL in urine. Quetiapine, mirtazapine, lorazepam, diazepam, and metabolites and valproate were also detected (at therapeutic concentrations). Inmates, especially when they have a history of drug abuse, are at risk to use any substance they can find for recreational purposes. In prisons, active surveillance on the management and assumption of prescribed drugs could avoid fatal acute intoxication.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Karen Bitton ◽  
J.-L. Bacquet ◽  
F. Amoroso ◽  
S. Mrejen ◽  
M. Paques ◽  
...  

Abstract Background Pathologic myopia is a major cause of visual impairment and blindness. Case presentation We report a case of an immediate post partum macular subretinal bleeding observed in a highly myopic patient. A 30-years-old woman presented two days after childbirth for sudden loss of vision in her right eye. Multimodal imaging showed macular hemorrhage masking a subtle yellowish linear lesion corresponding to lacker crack. Due to the lack of evidence for choroidal neovascularization, a simple clinical and imaging monitoring was recommended. Six weeks later, we noted an improvement in her best-corrected visual acuity and a decreased in size of the macular hemorrhage. Conclusions This is the first case reporting a macular subretinal bleeding on macular lacquer cracks in a highly myopic patient in immediate post partum. Valsalva maneuver associated with vaginal delivery could explain the occurrence of the hemorrhage associated with lacquer crack. However, natural history of pathological myopia could not be excluded.


2021 ◽  
Vol 13 ◽  
pp. 251584142110277
Author(s):  
Zahra Ashena ◽  
Thomas Hickman-Casey ◽  
Mayank A. Nanavaty

A 65-year-old patient with history of keratoconus, mild cataract and penetrating keratoplasty over 30 years ago developed corneal oedema subsequent of graft failure with best corrected visual acuity (BCVA) of counting fingers. He underwent a successful cataract surgery combined with a 7.25 mm Descemet’s Membrane Endothelial Keratoplasty (DMEK) with Sodium Hexafluoride (SF6) gas. His cornea remained oedematous inferiorly at 4 weeks, despite two subsequent re-bubbling due to persistent DMEK detachment inferiorly. This was managed by three radial full thickness 10-0 nylon sutures placed in the inferior cornea along with intracameral injection of air. Following this, his anterior segment ocular coherence tomography (OCT) confirmed complete attachment of the graft, and the sutures were removed 4 weeks later. Unaided visual acuity was 20/63 and BCVA was 20/32 after 8 months. DMEK suturing can be helpful in persistent DMEK detachments, which is refractory to repeated re-bubbling due to uneven posterior surface of previous PK.


2021 ◽  
pp. 014556132110039
Author(s):  
Jelena Sotirović ◽  
Ljubomir Pavićević ◽  
Stanko Petrović ◽  
Saša Ristić ◽  
Aleksandar Perić

Differential diagnosis of globus sensation in an otherwise asymptomatic patient should include hypopharyngeal fibrovascular polyp to avoid potentially fatal complications like airway compromise following regurgitation. We present a case of a 74-year-old man with a 13-cm long hypopharyngeal fibrovascular polyp with 9 months history of globus sensation. A narrow stalk of the giant polyp allowed endoscopic removal and complete resection with the CO2 laser. Histopathological examination was conclusive for the fibrovascular polyp.


Genes ◽  
2021 ◽  
Vol 12 (5) ◽  
pp. 675
Author(s):  
Yoon-Jeon Kim ◽  
You-Na Kim ◽  
Young-Hee Yoon ◽  
Eul-Ju Seo ◽  
Go-Hun Seo ◽  
...  

We conducted targeted next-generation sequencing (TGS) and/or whole exome sequencing (WES) to assess the genetic profiles of clinically suspected retinitis pigmentosa (RP) in the Korean population. A cohort of 279 unrelated Korean patients with clinically diagnosed RP and available family members underwent molecular analyses using TGS consisting of 88 RP-causing genes and/or WES with clinical variant interpretation. The combined genetic tests (TGS and/or WES) found a mutation in the 44 RP-causing genes and seven inherited retinal disease (IRD)-causing genes, and the total mutation detection rate was 57%. The mutation detection rate was higher in patients who experienced visual deterioration at a younger age (75.4%, age of symptom onset under 10 years) and who had a family history of RP (70.7%). The most common causative genes were EYS (8.2%), USH2A (6.8%), and PDE6B (4.7%), but mutations were dispersed among the 51 RP/IRD genes generally. Meanwhile, the PDE6B mutation was the most common in patients experiencing initial symptoms in their first decade, EYS in their second to third decades, and USH2A in their fifth decades and older. Of note, WES revealed some unexpected genotypes: ABCC6, CHM, CYP4V2, RS1, TGFBI, VPS13B, and WDR19, which were verified by ophthalmological re-phenotyping.


Sign in / Sign up

Export Citation Format

Share Document