scholarly journals Stargardt's Disease : Case Report

2018 ◽  
Vol 1 (1) ◽  
pp. 27-33
Author(s):  
Dian Ariani ◽  
AK Ansyori ◽  
Ramzi Amin
Keyword(s):  
Low Vision ◽  
Supportive Therapy ◽  
Macular Dystrophy ◽  
Stargardt Disease ◽  
Daily Lives ◽  
Abc Protein ◽  
Main Complaint ◽  
Disease Case ◽  
History Of ◽  
The Right

Introduction. The Stargardt disease is a frequent macular dystrophy and the most common cause of decreased central visus in adults below 50 years. This condition is caused by the presence of mutations in the ABCA4 gene, located in the chromosome chain 1 short sleeve, which encode the ATP-binding cassette (ABC) protein transporter expressed by the outer trunk cell segment. Case Presentation. A man, 59 years old, civil servants, was living in the city, came to the eye Polyclinic RSMH on February 4, 2016. From anamnesis, main complaint of the right eye was view blurred since 2 years ago. The history of the illness since ± 2 years ago, the sufferer complained the right eye view blurred slowly, the longer the more blurred.  Often glare (+), the sufferer also complains to see black spots, such as enclosed curtains (-). Conclusion. A case of Stargardt disease has been reported in a 58-year-old male. Patients come with complaints of blurry vision slowly in both eyes. On posterior segment examination, a picture of atrophy in the macula that typically leads to Stargardt disease. Additional examination of OCT also showed a stretch of RPE depletion. Supportive therapy such as correction with low vision aids or the provision of sun protective glasses can help in the daily lives of patients.

scholarly journals Incomitant Exotropia After Nasal Polyp Surgery

2019 ◽  
Vol 7 (11) ◽  
pp. 1825-1827
Author(s):  
Ni Made Ayu Surasmiati ◽  
Ni Made Wasiastiti Budi ◽  
Ni Made Ari Suryathi ◽  
AAA Sukartini Djelantik ◽  
Ni Made Laksmi Utari ◽  
...  
Keyword(s):  
Nasal Polyp ◽  
Double Vision ◽  
Head Turn ◽  
Muscle Transposition ◽  
Main Complaint ◽  
History Of ◽  
Ishihara Test ◽  
Intranasal Surgery ◽  
The Right ◽  
Generation Test

BACKGROUND: Incomitant exotropia is one of ocular complication that has been reported after intranasal surgery. This case report aims to describe the causes of exotropia in a patient with a history of nasal polyp surgery.CASE PRESENTATION: A 50-years-old male, came with the main complaint of double vision 1 month after nasal polyp surgery. He also complained his right eye turned outward. The visual acuity on the right eye was 6/7.5 with his head turn to the left. On the examination, the Hirschberg test was XT 45°, and the Krimsky test > 95 ∆BI. Duction and version test on the right eye were -4 adduction. There was no shifting on the cover-uncover test. Ishihara test was within normal limit, and there was suppression on the right eye in WFDT. On force generation test, we found limited adduction on the right eye and no restriction in force duction test. Head MRI showed atrophy of medial recti on the right eye, 2.2 mm in size. The patient underwent vertical muscle transposition procedure surgery, and it was found atrophy of medial recti without any rupture. Two months after surgery, the double vision was decreased, the result of the Hirschberg test was XT 30° and Krimsky test 65°∆BI. DISCUSSION: Nasal polyp surgery-related incomitant exotropia mostly caused by extraocular muscles rupture. In this case, we found no rupture. Therefore, we suspected the abnormalities of muscles vascularisation, supported by the atrophy of medial recti.

scholarly journals PROPORTIONS AND CHARACTERISTICS OF PATIENTS WITH BRAIN ABSCESS AT SANGLAH GENERAL HOSPITAL IN DENPASAR, BALI, INDONESIA IN 2019-2020

2021 ◽  
Vol 20 (2) ◽  
pp. 176-182
Author(s):  
Putu Satyakumara Upadhana ◽  
◽  
Ni Putu Kostarika Melia Daradila ◽  
Anak Agung Bagus Putra Indrakusuma ◽  
I Gede Krisna Arim Sadeva ◽  
...  
Keyword(s):  
General Hospital ◽  
Brain Abscess ◽  
Univariate Analysis ◽  
Brain Parenchyma ◽  
Cross Sectional ◽  
Main Complaint ◽  
History Of ◽  
Brain Abscesses ◽  
The Right ◽  
High Level

Introduction. A brain abscess is a collection of pus, immune cells, and other materials that are generally caused by bacterial or fungal infection in the brain parenchyma. This disease has a high level of morbidity and mortality, nonetheless, until now there has been no in-depth research on this disease, especially in Bali. Objective. This study aimed to determine the proportion and characteristics of patients with brain abscess at the Sanglah General Hospital, Denpasar, Bali, Indonesia in 2019-2020. Material and methods. This study is an observational study with a cross sectional method. A total of 41 patients with brain abscesses recorded in hospital medical records in 2019-2020 were included in this study. Univariate analysis was performed to obtain the characteristics of patients with brain abscesses. Results. Most of the patients were male (63.4%), aged 20-39 years. The main complaint most often found in patients was decreased consciousness (56.1%), with neurological symptoms in the form of hemiparesis (32.3%). Most of the abscesses were found on the right frontal, right parietal and left parietal with a percentage of 14.06% each. The CT scan results showed a rim contrast enhancement (63.4%), cerebral edema (75.6%), and normal sulcus gyri (51.2%). Up to 50% of patients with a history of surgical procedures underwent a craniotomy. Other disease histories most often found in patients were sinusitis (29.5%), diabetes mellitus (15.3%), and toxoplasmosis (12.5%). Conclusion. There are varying results of the clinical characteristics of patients with brain abscesses, and indicate the natural course of this disease.

scholarly journals A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele

2017 ◽  
Vol 8 (1) ◽  
pp. 180-184 ◽  
Author(s):  
Cindy S. Kaway ◽  
Madeleine K.M. Adams ◽  
Kevin Sean Jenkins ◽  
Christopher J. Layton
Keyword(s):  
Late Onset ◽  
Macular Dystrophy ◽  
Therapeutic Approaches ◽  
Stargardt Disease ◽  
Genetic Changes ◽  
Mild Disease ◽  
Hypomorphic Allele ◽  
Number Of Patients ◽  
The Right

Background: Stargardt disease (STGD) is the most common juvenile hereditary macular dystrophy. In the majority of cases, the diagnosis is made prior to 20 years of age and usually leads to loss of central vision. Late-onset STGD affects a smaller number of patients. Identifying genetic changes which could be associated with clinically important differences in severity or presentation of the disease is important for understanding the mechanisms of visual loss and for planning future therapeutic approaches. Methods: We report a patient with the classic phenotype of STGD with late-onset mild disease exhibiting a slow clinical progression over 14 months of follow-up. Results: A 37-year-old man presented with STGD and good vision of 6/24 in the right eye and of 6/6 in the left eye as well as typical electrophysiology findings. Objective and subjective visual deterioration was not noted over a period of 14 months. Macular genetic testing revealed a novel missense mutation in ABCA4 (Thr829Met) combined with Gly1961Glu, a classic STGD mutation usually associated with a moderately severe phenotype. Conclusions: It is suggested that the Thr829Met mutation could give rise to a hypomorphic allele of the ABC transporter with a resultant phenotype of comparatively mild STGD.

scholarly journals A case report of congenital lobar emphysema

2020 ◽  
Vol 7 (4) ◽  
pp. 945
Author(s):  
Aditya K. ◽  
Parvathi K. ◽  
Prabhakar V.
Keyword(s):  
Case Report ◽  
Lower Respiratory Tract ◽  
Supportive Therapy ◽  
Congenital Lobar Emphysema ◽  
The Past ◽  
Lung Lobectomy ◽  
History Of ◽  
Alveolar Overdistension ◽  
Lobar Emphysema ◽  
The Right

Congenital lobar emphysema (CLE), also known as congenital alveolar overdistension, is a developmental anomaly of the lower respiratory tract that is characterized by hyperinflation of one or more of the pulmonary lobes. CLE is a rare congenital malformation with a prevalence of 1 in 20,000 to 1 in 30,000. We are reporting a 4-month-old boy presented with complaints of cough and cold for 3 days with history of similar complaints in the past at age of 1month and 2 months. Investigations revealed hyperlucency of left upper zone with tracheal shift and mild shift of the heart to the right. Elective Left Upper Lung Lobectomy was done and Appropriate supportive therapy given and child recovered well.

Large choroidal excavation in a patient with rubella retinopathy

2018 ◽  
Vol 28 (2) ◽  
pp. 251-252 ◽  
Author(s):  
Maurizio Battaglia Parodi ◽  
Francesco Romano ◽  
Marco Montagna ◽  
Francesco Bandello
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Optical Coherence Tomography Angiography ◽  
Fundus Photography ◽  
Macular Dystrophy ◽  
Optical Coherence ◽  
History Of ◽  
Ophthalmologic Examination ◽  
The Right ◽  
Sd Oct

Purpose: To describe a case of rubella retinopathy complicated by bilateral choroidal neovascularization (CNV) and late development of large choroidal excavation (LCE). Methods: A 19-year-old woman with a diagnosis of rubella retinopathy underwent her annual ophthalmologic examination, including visual acuity testing and slit-lamp biomicroscopy with dilated fundus examination. Color fundus photography, spectral-domain optical coherence tomography (SD-OCT) scans, and optical coherence tomography angiography were acquired to complete the investigation of her ocular condition. The main findings are described in this case report. Results: This woman came to our attention in 2010 with a history of rubella retinopathy, complicated by bilateral CNV and treated with photodynamic therapy (PDT) in 2006. After 6 years of annual follow-up examinations, her visual acuity remained stable in both eyes (20/100), whereas SD-OCT scans uncovered the development of a bilateral LCE in the macular area, associated with a macular hole in the right eye. Optical coherence tomography angiography revealed a vascular network surrounding the choroidal excavation. Conclusions: Large choroidal excavation is a rare finding that has been described in few chorioretinal diseases, e.g., North Carolina macular dystrophy and toxoplasmosis. We propose to include rubella retinopathy complicated by CNV in the differential diagnosis of LCE, although we recognize the possibility that PDT might have induced or facilitated its formation.

scholarly journals Case Report: Long-Term Suppression of Paroxysmal Kinesigenic Dyskinesia After Bilateral Thalamotomy

2021 ◽  
Vol 12 ◽  
Author(s):  
Masato Murakami ◽  
Shiro Horisawa ◽  
Kenko Azuma ◽  
Hiroyuki Akagawa ◽  
Taku Nonaka ◽  
...  
Keyword(s):  
Case Report ◽  
Voluntary Movements ◽  
School Life ◽  
Daily Lives ◽  
Left Hand ◽  
Significant Family History ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
History Of ◽  
The Right

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by transient dyskinetic movements, including dystonia, chorea, or both, triggered by sudden voluntary movements. Carbamazepine and other antiepileptic drugs (AEDs) are widely used in the treatment of PKD, and they provide complete remission in 80–90% of medically treated patients. However, the adverse effects of AEDs include drowsiness and dizziness, which interfere with patients' daily lives. For those with poor compatibility with AEDs, other treatment approaches are warranted.Case Report: A 19-year-old man presented to our institute with right hand and foot dyskinesia. He had a significant family history of PKD; his uncle, grandfather, and grandfather's brother had PKD. The patient first experienced paroxysmal involuntary left hand and toe flexion with left forearm pronation triggered by sudden voluntary movements at the age of 14. Carbamazepine (100 mg/day) was prescribed, which led to a significant reduction in the frequency of attacks. However, carbamazepine induced drowsiness, which significantly interfered with his daily life, especially school life. He underwent right-sided ventro-oral (Vo) thalamotomy at the age of 15, which resulted in complete resolution of PKD attacks immediately after the surgery. Four months after the thalamotomy, he developed right elbow, hand, and toe flexion. He underwent left-sided Vo thalamotomy at the age of 19. Immediately after the surgery, the PKD attacks resolved completely. However, mild dysarthria developed, which spontaneously resolved within three months. Left-sided PKD attacks never developed six years after the right Vo thalamotomy, and right-sided PKD attacks never developed two years after the left Vo thalamotomy without medication.Conclusion: The present case showed long-term suppression of bilateral PKDs after bilateral thalamotomy, which led to drug-free conditions.

West Nile Virus Chorioretinitis With Foveal Involvement

2017 ◽  
Vol 1 (3) ◽  
pp. 218-221
Author(s):  
Gary L. Yau ◽  
Eric K. Chin ◽  
D. Wilkin Parke ◽  
Steven R. Bennett ◽  
David R. P. Almeida
Keyword(s):  
Optical Coherence Tomography ◽  
West Nile Virus ◽  
Supportive Therapy ◽  
Spectral Domain ◽  
Optical Coherence ◽  
West Nile ◽  
Visual Status ◽  
History Of ◽  
The Right ◽  
Sd Oct

Purpose: To describe the clinical course of foveal West Nile virus (WNV) chorioretinitis with longitudinal spectral domain optical coherence tomography (SD-OCT) imaging. Methods: Case report. Results: A 41-year-old man with diabetes mellitus presented with flashes and floaters of both eyes (OU) and decreased vision of the right eye (OD) 2 weeks after being discharged from a local hospital. He had been treated for WNV meningoencephalitis, and he recovered systemically with supportive therapy. Ophthalmic examination revealed WNV chorioretinitis bilaterally, with predominantly foveal involvement OD. His best-corrected visual acuity (BCVA) was 8/200 OD and 20/20 of the left eye (OS). Spectral domain optical coherence tomography revealed 2 distinct lesion types—the “classic” outer retinal lesion and an intraretinal lesion. Both lesions had associated disruption of the normal outer hyperreflective retinal layers on SD-OCT. Longitudinal SD-OCT over the ensuing 6 weeks revealed a gradual reconstitution of these layers, with BCVA concurrently improving to 20/40 OD. Conclusion: We describe the consecutive findings seen on SD-OCT of retinal lesions in WNV chorioretinitis. The tomographic natural history of these lesions involved reconstitution of OCT deficits, with corresponding improvement in functional visual status.

scholarly journals Primary cardiac CD5-positive diffuse large B-cell lymphoma:A case report and review of literature

2021 ◽  
Author(s):  
Zhaoming Wang ◽  
Hanjin Yang ◽  
Qiqi Gao ◽  
Xu Yang
Keyword(s):  
B Cell ◽  
B Cell Lymphoma ◽  
Pathological Examination ◽  
Review Of Literature ◽  
Prognosis Factors ◽  
Large B Cell Lymphoma ◽  
Disease Case ◽  
History Of ◽  
The Right ◽  
Large B Cell

Abstract Background：Primary cardiac CD5 positive diffuse large B-cell lymphoma (CD5+ DLBCL) is a rare subtype of DLBCL with many diagnostic challenges. The case is reported, along with a review of several characteristics of the disease. Case presentation：We described a 64-year-old female who presented with a 12-month history of cough, and a mass in the right atrium observed on imaging studies that extended into the right ventricle. Conclusions：CD5+ DLBCL was confirmed finally by pathological examination of the cardiac biopsy. The patient responded well to the modified R-CHOP regime. The poor prognosis factors include CD5 positive, non-GCB immunophenotype, myc, bcl-2 and bcl-6 gene rearrangements etc. Early diagnosis and aggressive treatment play a key role on improving the prognosis of primary cardiac CD5+ DLBCL.

Z-line degradation and phagocytosis of sarcomeric fragments in myonecrosis

1983 ◽  
Vol 41 ◽  
pp. 790-791
Author(s):  
Melinda L. Estes ◽  
Samuel M. Chou
Keyword(s):  
Vastus Lateralis ◽  
Inflammatory Myopathy ◽  
Muscle Disease ◽  
White Female ◽  
Inflammatory Cell Infiltrate ◽  
Limb Weakness ◽  
Muscle Diseases ◽  
History Of ◽  
The Right ◽  
Mononuclear Inflammatory Cell

Many muscle diseases show common pathological features although their etiology is different. In primary muscle diseases a characteristic finding is myofiber necrosis. The mechanism of myonecrosis is unknown. Polymyositis is a primary muscle disease characterized by acute and subacute degeneration as well as regeneration of muscle fibers coupled with an inflammatory infiltrate. We present a case of polymyositis with unusual ultrastructural features indicative of the basic pathogenetic process involved in myonecrosis.The patient is a 63-year-old white female with a one history of proximal limb weakness, weight loss and fatigue. Examination revealed mild proximal weakness and diminished deep tendon reflexes. Her creatine kinase was 1800 mU/ml (normal < 140 mU/ml) and electromyography was consistent with an inflammatory myopathy which was verified by light microscopy on biopsy muscle. Ultrastructural study of necrotizing myofiber, from the right vastus lateralis, showed: (1) degradation of the Z-lines with preservation of the adjacent Abands including M-lines and H-bands, (Fig. 1), (2) fracture of the sarcomeres at the I-bands with disappearance of the Z-lines, (Fig. 2), (3) fragmented sarcomeres without I-bands, engulfed by invading phagocytes, (Fig. 3, a & b ), and (4) mononuclear inflammatory cell infiltrate in the endomysium.

Popliteal artery thrombosis secondary to a tibial osteochondroma

VASA ◽  
2011 ◽  
Vol 40 (3) ◽  
pp. 251-255 ◽  
Author(s):  
Gruber-Szydlo ◽  
Poreba ◽  
Belowska-Bien ◽  
Derkacz ◽  
Badowski ◽  
...  
Keyword(s):  
Case Report ◽  
Magnetic Resonance Angiography ◽  
Popliteal Artery ◽  
Doppler Ultrasonography ◽  
Histopathological Examination ◽  
Previous History ◽  
Plain Radiography ◽  
Artery Thrombosis ◽  
History Of ◽  
The Right

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.

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