scholarly journals Fundus flavimaculatus-like in myotonic dystrophy: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Eric Kirkegaard-Biosca ◽  
Mònica Berges-Marti ◽  
Brahim Azarfane ◽  
Esther Cilveti ◽  
Laura Distefano ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Vision Loss ◽  
Posterior Pole ◽  
The Body ◽  
Inherited Disease ◽  
Case Presentation ◽  
Pattern Dystrophy ◽  
Progressive Muscle Weakness ◽  
History Of ◽  
Fundus Flavimaculatus

Abstract Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye. Dysfunction of ocular muscles, ptosis and cataract are the most common ophthalmologic manifestations, but it can also present with pigmentary changes in the retina. This report presents and discusses an unusual case of a pigmented pattern dystrophy simulating a fundus flavimaculatus in a patient with myotonic dystrophy. Case presentation We present a case of a woman with a history of myotonic dystrophy and complaints of progressive vision loss who presented bilateral retinal pigmentary changes in posterior pole and midperiphery. The characteristics and distribution of pigmented deposits, as well as ancillary tests, showed a retinal phenotype compatible with a multifocal pattern dystrophy or a fundus flavimaculatus. Conclusions There are a few publications about retinal disorders in patients with myotonic dystrophy. When macular area is affected it tends to adopt a patterned-shape defined as butterfly dystrophy or reticular dystrophy. To our knowledge, this is the first report of a patient with myotonic dystrophy and multifocal pattern dystrophy or fundus flavimaculatus.

Aspergillus Spondylodiscitis After Spinal Stenosis Surgery: A Case Report

2020 ◽  
Vol 5 (3 And 4) ◽  
pp. 155-160
Author(s):  
Mohsen Aghapoor ◽  
◽  
Babak Alijani Alijani ◽  
Mahsa Pakseresht-Mogharab ◽  
◽  
...  
Keyword(s):  
Antifungal Drugs ◽  
The Body ◽  
Lower Limbs ◽  
Lumbar Pain ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Death Case ◽  
Therapeutic Results ◽  
History Of ◽  
Probable Diagnosis

Background and Importance: Spondylodiscitis is an inflammatory disease of the body of one or more vertebrae and intervertebral disc. The fungal etiology of this disease is rare, particularly in patients without immunodeficiency. Delay in diagnosis and treatment of this disease can lead to complications and even death. Case Presentation: A 63-year-old diabetic female patient, who had a history of spinal surgery and complaining radicular lumbar pain in both lower limbs with a probable diagnosis of spondylodiscitis, underwent partial L2 and complete L3 and L4 corpectomy and fusion. As a result of pathology from tissue biopsy specimen, Aspergillus fungi were observed. There was no evidence of immunodeficiency in the patient. The patient was treated with Itraconazole 100 mg twice a day for two months. Pain, neurological symptom, and laboratory tests improved. Conclusion: The debridement surgery coupled with antifungal drugs can lead to the best therapeutic results.

scholarly journals LIVE BIRTHS AND STILLBIRTHS – QUESTIONS OF FORENSIC SCIENCE AND RADIOLOGY: CASES FROM EXPERT PRACTICE

2021 ◽  
Author(s):  
Yulia V. Chumakova ◽  
Sofia E. Dubrova ◽  
Natalia S. Muranova ◽  
Olga M. Popova ◽  
Vladimir A. Klevno
Keyword(s):  
Live Birth ◽  
The Body ◽  
Evidence Based ◽  
Case Presentation ◽  
X Ray ◽  
Congenital Deformities ◽  
Medical Study ◽  
Private House ◽  
Life Tests ◽  
History Of

Introduction: The article deals with the criteria, forensic and radiological "life tests", difficulties in assessing the results of live birth and stillbirth of the fetus. An excursion into the history of the development of X-ray, including pre-sectional, examination of the corpses of newborns is made. Cases from the practice of two corpses of newborns which underwent pre-section computed tomography are presented. Case presentation: Case № 1: examination of the corpse of a baby found in a cardboard box on the unheated terrace of a private house after a secret self-birth. Case № 2: examination of the corpse of an infant with massive injuries and the division of the body into two fragments, found on a sorting tape in the premises of the waste sorting shop. Conclusion: Postmortem CT of newborn corpses was an evidence-based and visual addition to the traditional forensic medical study, which allowed even at the pre-dissection stage to speak about the maturity of fetuses, to identify injuries and anatomical variants of the structure, to refute the presence of congenital deformities; to establish and record evidence-based CT signs of live birth and stillbirth.

scholarly journals Retained Intraabdominal Gossypiboma, Five Years after Bilateral Orchiopexy

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Mohammad Kazem Moslemi ◽  
Mehdi Abedinzadeh
Keyword(s):  
Medical Training ◽  
Final Diagnosis ◽  
The Body ◽  
Surgical Sponge ◽  
Human Errors ◽  
Strict Adherence ◽  
Case Presentation ◽  
Radiologic Evaluation ◽  
Surgical History ◽  
History Of

Introduction.Gossypiboma or textiloma is used to describe a retained surgical swab in the body after an operation. Intraabdominal surgical sponge is an uncommon surgical error. The incidence of gossypiboma has been reported as high as 1 in 1000 to 15,000 intraabdominal operations. Gossypiboma may cause serious morbidity and may lead to mortality.Case presentation.Herein, we report a 24 years-old man who was admitted due to the intraabdominal mass after evaluation of primary infertility. He had a surgical history of bilateral abdominal orchiopexy 5 years previously, performed at another hospital. Hydatid cyst was suspected by abdominal computed tomography. After laparotomy excision, the cyst wall opened incidentally, and draining of a large amount of thick pus with retained surgical gauze within the cyst was found, with final diagnosis of gossypiboma.Conclusion.The policy that prevention is far more important than cure is highly appreciated. Accurate sponge and instrument counts, along with radiologic evaluation when a discrepancy is found, can be helpful. Although human errors cannot be completely avoided, continuous medical training and strict adherence to rules of the operation room should reduce the incidence of gossypiboma to a minimum. Surgical sponges should be counted once at the start and twice at the end of all surgical operations.

scholarly journals Duchene Muscular Dystrophy: Pathogenesis, Pathophysiology, Diagnosis Management to Therapy.

1970 ◽  
Vol 8 (3) ◽  
pp. 130-134
Author(s):  
Bharti Sharma ◽  
Savita Devi ◽  
Kamaldeep Singh
Keyword(s):  
Muscular Dystrophy ◽  
Exon Skipping ◽  
Dystrophin Gene ◽  
The Body ◽  
Confirmatory Test ◽  
Inherited Disease ◽  
Progressive Muscle Weakness ◽  
Duchene Muscular Dystrophy ◽  
Cardiac Gene ◽  
Dystrophin Protein

Duchene muscular dystrophy (DMD) is a neuromuscular inherited disease which deal with X-linked occurs due to mutations in the dystrophin gene. The characterisation achieved by progressive muscle weakness in all our the body specially in legs and arms and wasting due to the absence of dystrophin protein which further causes degeneration of different types of muscules such as skeletal and cardiac. Gene mutation is one of the major causes for Duchenne muscular dystrophy located in cytoskeletal protein dystrophin. The diagnosis can be start up with careful review of the physical condition, history and examination of body organs and developmental delay, proximal weakness in muscules, and elevated biochemical compound serum creatine kinase, plus other confirmatory test like muscle biopsy or genetic testing. To improve the life expectancy of patient the early use of exercises, diet & nutrition management and other supportive strategies has been implemented. Moreover, uncontrolled condition can be treated with gene therapy with the use of plasmids or viruses, mutations and short DNA fragments can be corrected, oligonucleotides are first line treatment for exon skipping of mutations. Myoblasts or stem cells replacement therapy can be apply to reproduction of muscules.  

scholarly journals Osteopontin accumulates in basal deposits of human eyes with age-related macular degeneration and may serve as a biomarker of aging

2021 ◽  
Author(s):  
Michael Lekwuwa ◽  
Mayur Choudhary ◽  
Eleonora M. Lad ◽  
Goldis Malek
Keyword(s):  
Macular Degeneration ◽  
Vision Loss ◽  
Retinal Pigment ◽  
Posterior Pole ◽  
The Body ◽  
Retinal Pigment Epithelial Cells ◽  
Age Related Macular Degeneration ◽  
Calcium Deposition ◽  
Cellular Functions ◽  
Age Related

AbstractA common clinical phenotype of several neurodegenerative and systemic disorders including Alzheimer’s disease and atherosclerosis is the abnormal accumulation of extracellular material, which interferes with routine cellular functions. Similarly, patients with age-related macular degeneration (AMD), the leading cause of vision loss among the aged population, present with extracellular lipid- and protein-filled basal deposits in the back of the eye. While the exact mechanism of growth and formation of these deposits is poorly understood, much has been learned from investigating their composition, providing critical insights into AMD pathogenesis, prevention, and therapeutics. We identified human osteopontin (OPN), a phosphoprotein expressed in a variety of tissues in the body, as a newly discovered component of basal deposits in AMD patients, with a distinctive punctate staining pattern. OPN expression within these lesions, which are associated with AMD disease progression, were found to co-localize with abnormal calcium deposition. Additionally, OPN puncta colocalized with an AMD risk-associated complement pathway protein, but not with apolipoprotein E or vitronectin, two other well-established basal deposit components. Mechanistically, we found that retinal pigment epithelial cells, cells vulnerable in AMD, will secrete OPN into the extracellular space, under oxidative stress conditions, supporting OPN biosynthesis locally within the outer retina. Finally, we report that OPN levels in plasma of aged (non-AMD) human donors were significantly higher than levels in young (non-AMD) donors, but were not significantly different from donors with the different clinical subtypes of AMD. Collectively, our study defines the expression pattern of OPN in the posterior pole as a function of disease, and its local expression as a potential histopathologic biomarker of AMD.

scholarly journals Nevirapine induced Stevens Johnson syndrome

2020 ◽  
Vol 1 (2) ◽  
pp. 35-38
Author(s):  
Himani Prajapati ◽  
Neetu Bala ◽  
Dinesh Kansal
Keyword(s):  
Adverse Effect ◽  
Adverse Event ◽  
Causality Assessment ◽  
Burning Sensation ◽  
The Body ◽  
Stevens Johnson Syndrome ◽  
Case Presentation ◽  
Johnson Syndrome ◽  
Life Threatening ◽  
History Of

Introduction: Severe and life-threatening SJS is more common with nevirapine than with other NNRTIs Case presentation: A 56-year-old male patient presented with a complaint of lesions all over the body with a burning sensation for 4 days. He was on an ART regimen, containing zidovudine, lamivudine, and efavirenz combination for 4 years. But patient accidentally started nevirapine and after 10 days he developed maculopapular lesions which were diagnosed as SJS syndrome. There was a history of rash with nevirapine when ART was started initially in 2012. This incident of an adverse event could be assigned a term "probable" according to the WHO-UMC scale for causality assessment as the re-challenge was found positive. Conclusion: Physicians and patients must be aware of this adverse effect on early diagnosis and treatment.

scholarly journals Case Report: Candida dubliniensis as a Cause of Chronic Meningitis

2020 ◽  
Vol 11 ◽  
Author(s):  
Madiha Tahir ◽  
Andrew M. Peseski ◽  
Stephen J. Jordan
Keyword(s):  
Hepatitis C ◽  
Vision Loss ◽  
Candida Dubliniensis ◽  
Immunocompetent Host ◽  
Chronic Meningitis ◽  
Heroin Use ◽  
Case Presentation ◽  
History Of ◽  
Grade Ii ◽  
Immunocompromised Hosts

Background:Candida dubliniensis is closely related to Candida albicans and rarely isolated in clinical specimens. C. dubliniensis is increasingly recognized as a pathogen in immunocompromised hosts. We present the third known case of Candida dubliniensis meningitis in a young immunocompetent host.Case Presentation: A 27-year-old female with a history of intravenous heroin use and chronic hepatitis C presented with a 10-month history of headaches and progressive bilateral vision loss. On physical examination, visual acuity was 20/20 in her right eye and grade II papilledema was noted. Examination of her left eye revealed complete loss of vision and grade IV papilledema. An MRI with and without contrast revealed increased leptomeningeal enhancement involving the posterior fossa and spinal cord. After multiple lumbar punctures, cerebrospinal fluid fungal cultures grew Candida dubliniensis. The patient was successfully treated with a combination of liposomal amphotericin and fluconazole for 6 weeks with complete resolution of her CNS symptoms, with the exception of irreversible vision loss.Conclusion: We report a case of chronic meningitis due to Candida dubliniensis in an immunocompetent woman with hepatitis C and a history of intravenous heroin use. Additional studies are needed to confirm risk factors for Candida dubliniensis colonization, which likely predisposes individuals to invasive candidiasis.

scholarly journals (P2-59) Monocular Vision Loss Following Blunt Trauma

2011 ◽  
Vol 26 (S1) ◽  
pp. s155-s155
Author(s):  
P.M. Pustinger ◽  
D. Paratore
Keyword(s):  
Blunt Trauma ◽  
Vision Loss ◽  
Motor Vehicle ◽  
Pediatric Population ◽  
Rear Seat ◽  
Monocular Vision ◽  
Delayed Presentation ◽  
Case Presentation ◽  
Vehicle Collision ◽  
History Of

Blunt trauma is a leading cause of injury in the teenage population. The early detection of injury is the primary goal of emergency medicine in order to maintain an optimal functional capacity. This is of particular importance in the pediatric population. The following is a case presentation of monocular vision loss in a 14-year-old girl as a result of traumatic optic neuropathy. A motor vehicle collision was the cause of injury for this patient. She was an unrestrained rear seat passenger and struck her head on the driver's headrest during a frontal impact. A delayed presentation of over seven hours added to the complexity of this presentation. Further, a non-contrasted computed tomography (CT) scan of the head and orbits was unremarkable except for soft tissue swelling. The child was left with only light perception in the affected eye. This case presentation will illustrate the importance of immediate care, diagnostic studies, proper consultant input, follow-up care, and the natural history of the injury for this most unusual case.

scholarly journals Lipoid Proteinosis presenting as beaded papules of the eyelid: report of three cases

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhenyu Wei ◽  
Antoine Labbe ◽  
Qingfeng Liang
Keyword(s):  
Gene Sequence ◽  
Inherited Disease ◽  
Case Presentation ◽  
Ocular Irritation ◽  
Lipoid Proteinosis ◽  
Gene Sequence Analysis ◽  
Clinical Presentations ◽  
History Of ◽  
Histological Characteristics

Abstract Background Lipoid proteinosis (LP) is a rare multisystem inherited disease. We report here in three LP cases with beaded papules of the eyelid. Their clinical presentations, histological characteristics, and genetic findings are described and discussed. Case presentation A 12-year-old boy reported to our hospital with a complaint of ocular irritation, redness, and tearing for two years. He had a history of hoarseness since childhood. His younger brother (5 years old) also complained of hoarseness. Another patient, a 26-year-old woman, described many beaded papules on the edge of her eyelids since age 11 years. She additionally reported hoarseness since 4 years of age. Careful slit-lamp examination in these cases revealed waxy beaded papules on the margins of both eyelids and mild conjunctival congestion. Physical examination showed irregular, rugged scars on their facial skin. Genetic analysis showed the mutation located in exon 6 of the ECM1 gene. Conclusions Three LP cases first diagnosed by ophthalmologists are presented. The presence of eyelid papules should prompt the ophthalmologist to pay close attention to the patient’s voice. If there is a definite history of hoarseness, these patients should undergo gene sequence analysis. If necessary, otorhinolaryngology and dermatology consults may help confirm the diagnosis. Treatment is primarily symptomatic to improve patients’ quality of life.

scholarly journals Pediatric P-ANCA Vasculitis following COVID-19

2021 ◽  
Author(s):  
Yaron Fireizen ◽  
Cyrus Shahriary ◽  
Maria Imperial ◽  
Inderpal Randhawa ◽  
Nastasia Nianiaris ◽  
...  
Keyword(s):  
Pediatric Population ◽  
Kidney Injury ◽  
The Body ◽  
Pediatric Case ◽  
Case Presentation ◽  
Necrotizing Glomerulonephritis ◽  
History Of ◽  
Complex Deposition ◽  
Inflammatory Syndrome ◽  
Pulse Steroids

Background: Perinuclear anti-neutrophil cytoplasmic antibodies (P-ANCA), a subset of ANCA, are associated with a multisystem vasculitis affecting small blood vessels in the body. A handful of adult patients who developed vasculitis post-COVID-19 infection have been reported. Although COVID-19 infection has been shown to drive an exaggerated immune response in the pediatric population, such as MIS-C (multisystem inflammatory syndrome in children), only one case of vasculitis following COVID-19 infection has been reported previously in children. Case presentation: Seventeen-year-old male with a past medical history of COVID-19 pneumonia two months prior presented with acute kidney injury/failure and diffuse alveolar hemorrhage (DAH). Rheumatologic workup revealed P-ANCA and Myeloperoxidase (MPO) positivity. Kidney biopsy showed necrotizing glomerulonephritis with limited immune complex deposition. Subsequently, he was treated with pulse steroids, plasmapheresis, and ultimately started on cyclophosphamide. Conclusions: To our knowledge, this report presents the second reported pediatric case of P-ANCA / MPO vasculitis following COVID-19 infection.

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