journal
https://read.qxmd.com/read/38740445/unilateral-toxoplasma-retinochoroiditis-with-frosted-branch-angiitis-a-multimodal-imaging-study
#21
JOURNAL ARTICLE
Srinivasan Sanjay, Ayushi Choudhary, Ankush Kawali, Padmamalini Mahendradas
A woman in her late 30s presented with sudden diminution of vision, redness and pain in the right eye (OD) of 10 days' duration. Best corrected visual acuity (BCVA) was 20/160 in OD and 20/20 in the left eye (OS). Anterior segment of OD showed keratic precipitates, flare 3+, cells 2+ and a festooned pupil. Vitreous haze and cells were seen in OD. Frosted branch angiitis (FBA) was seen in all quadrants in OD and old Toxoplasma scar was seen in both eyes. Serum toxoplasma immunoglobulin G (IgG) was positive and IgM negative, and PCR of an aqueous humour sample was negative for Toxoplasma She was diagnosed with toxoplasa retinochoroiditis in OD and treated with intravitreal clindamycin injections, oral anti- Toxoplasma antibiotics and steroids...
May 13, 2024: BMJ Case Reports
https://read.qxmd.com/read/38740444/primary-tracheoesophageal-puncture-in-stapler-assisted-laryngeal-closure-a-surgical-modification
#22
JOURNAL ARTICLE
Jeyashanth Riju, Rajiv C Michael, Sheth Meet Chetan, Antony Paulose
With the advancements in the medical field, many innovations in medical devices have happened. Using a surgical stapler to close the laryngectomy defect without opening the pharynx is particularly advantageous in a total laryngectomy (TL). However, performing the tracheoesophageal puncture (TEP) during stapler closure of the larynx has not been widely advocated, due to the fear of complications related to the procedure.We treated two male patients with advanced glottic malignancy who underwent a TL. To restore their ability to speak, we performed a primary TEP and immediate voice prosthesis placement...
May 13, 2024: BMJ Case Reports
https://read.qxmd.com/read/38740443/coexisting-presentation-of-two-rare-genetic-variants-of-autosomal-dominant-polycystic-kidney-disease-and-alport-syndrome
#23
JOURNAL ARTICLE
João Venda, Andreia Henriques, Rita Leal, Rui Alves
Alport syndrome and autosomal dominant polycystic kidney disease are monogenic causes of chronic kidney disease and end-stage kidney failure. We present a case of a man in his 60s with progressive chronic kidney disease, bilateral sensorineural hearing loss and multiple renal cysts. Genetic analysis revealed a heterozygous variant in COL4A3 (linked to Alport syndrome) and in the GANAB gene (associated with a milder form of autosomal dominant polycystic kidney disease). Although each variant confers a mild risk of developing end-stage kidney disease, the patient presented a pronounced and accelerated progression of chronic kidney disease, which goes beyond what would be predicted by adding up their individual effects...
May 13, 2024: BMJ Case Reports
https://read.qxmd.com/read/38729659/opsoclonus-in-scrub-typhus
#24
JOURNAL ARTICLE
Sai Prathap Reddy, Akshit Tuli, Kumar P Yuvasai, Ashok Kumar Pannu
No abstract text is available yet for this article.
May 10, 2024: BMJ Case Reports
https://read.qxmd.com/read/38729658/extraneural-metastatic-ependymoma-distant-metastasis-to-the-pleura-lungs-lymph-nodes-and-bone
#25
JOURNAL ARTICLE
Mina Guirguis, Zhixin Jiang, Chunyu Cai, Michael Youssef
Ependymomas are neuroepithelial tumours arising from ependymal cells surrounding the cerebral ventricles that rarely metastasise to extraneural structures. This spread has been reported to occur to the lungs, lymph nodes, liver and bone. We describe the case of a patient with recurrent CNS WHO grade 3 ependymoma with extraneural metastatic disease. He was treated with multiple surgical resections, radiation therapy and salvage chemotherapy for his extraneural metastasis to the lungs, bone, pleural space and lymph nodes...
May 10, 2024: BMJ Case Reports
https://read.qxmd.com/read/38729657/cat-scratch-disease-a-rare-cause-of-osteomyelitis
#26
JOURNAL ARTICLE
Ricardo Domingos Grilo, Miguel Madureira, Ana Reis Melo, Margarida Tavares
Cat-scratch disease is a zoonosis caused by Bartonella henselae , characterised by regional lymphadenopathy. Rarer presentations, such as osteomyelitis, can occur.We present an adolescent girl with severe right lumbar pain and fever, without animal contacts or recent travels. On examination, pain on flexion of torso, movement limitation and marked lordosis were noted, but there were no inflammatory signs, palpable masses or lymph nodes. Serological investigations revealed elevated inflammatory markers. Imaging revealed a paravertebral abscess with bone erosion...
May 10, 2024: BMJ Case Reports
https://read.qxmd.com/read/38729656/follow-up-report-of-fundus-findings-of-tuberous-sclerosis-associated-retinal-astrocytoma-of-two-siblings
#27
JOURNAL ARTICLE
Anand Naik Bukke, Dheepak M Sundar, Rohan Chawla, Chandradevi Shanmugam
A late adolescent with tuberous sclerosis (TS) presented with reduced vision in one eye to our tertiary care university hospital 4 years ago. Fundus examination revealed multiple retinal astrocytic hamartomas (RAHs) in both eyes. His younger sibling, who also had TS, was found to have RAH on retinal screening. The swept-source optical coherence tomography (SS-OCT) findings were typical of RAH. We further noted that some of the RAH lesions showed segmental whitening of the outer walls of the arterioles, which traversed through them...
May 10, 2024: BMJ Case Reports
https://read.qxmd.com/read/38724217/acute-macular-neuroretinopathy-following-valsalva-manoeuvre-an-insight-into-the-pathophysiology
#28
JOURNAL ARTICLE
Sagar Agarwal, Madhurima A Nayak, Saurabh Luthra, Shweta Parakh
Acute macular neuroretinopathy (AMN) affects the outer retina and is most likely induced by non-inflammatory ischaemia of the retinal deep capillary plexus and choriocapillaris. A man in his early 20s developed Valsalva retinopathy following weightlifting at the gym and presented with blurring of vision in the left eye 1 month after the initial retinal haemorrhages had resolved. A diffuse, purplish, donut-shaped, perifoveal lesion was seen on funduscopy and was well defined by an optical coherence tomography angiography (OCTA) en face image in the left eye...
May 9, 2024: BMJ Case Reports
https://read.qxmd.com/read/38724216/overexposure-to-ultraviolet-radiation-in-solar-urticaria
#29
JOURNAL ARTICLE
Hannah Elizabeth Ross, Donna Parkin, Jean Ayer
A man in his 50s was diagnosed with solar urticaria following monochromated light testing that demonstrated exquisite photosensivity to ultraviolet (UV) A, UV B (UVB) and visible light.Treatment options for this photodermatosis are limited; UVB phototherapy is one modality that can be appropriate in some patients. This is administered at very low doses in a controlled environment to induce skin hardening.1 To self-treat his condition, the patient used a commercial sunbed on two occasions several days apart...
May 9, 2024: BMJ Case Reports
https://read.qxmd.com/read/38724215/autoimmune-encephalitis-in-glial-fibrillary-acidic-protein-astrocytopathy
#30
JOURNAL ARTICLE
Charlie Weige Zhao, Galina Gheihman, Minali Nigam, Giovanna S Manzano
Autoimmune encephalitis due to glial fibrillar acidic protein (GFAP) astrocytopathy is a rare cause of subacute neuropsychiatric changes. In this case, a young patient presented with a viral prodrome and meningismus, followed by progressive encephalopathy and movement disorders over the span of 2 weeks. Due to his clinical trajectory, inflammatory cerebrospinal fluid (CSF) analysis, initial normal brain imaging and negative serum autoimmune encephalopathy panel, his initial diagnosis was presumed viral meningoencephalitis...
May 9, 2024: BMJ Case Reports
https://read.qxmd.com/read/38724214/borderline-tumour-recurrence-how-quickly-does-the-tumour-grow
#31
JOURNAL ARTICLE
Sian Mitchell, Thushanee Ramajayan, Ahmad Sayasneh
This abstract describes a case of the growth of a serous borderline tumour recurrence and cyst to papillary projection ratio with associated ultrasound images. The aetiology, presentation and management of such cases are explored and compared to the literature.
May 9, 2024: BMJ Case Reports
https://read.qxmd.com/read/38724213/postlaryngectomy-pharyngoplasty-with-melolabial-flap
#32
JOURNAL ARTICLE
Devendra Kumar Gupta, Bhaumik Patel, Deepika Tanwar
To the best of our knowledge, this is the largest case series describing the use of a melolabial flap for postlaryngectomy pharyngoplasty. It is an excellent alternative for pharyngoplasty, especially in cases post chemoradiotherapy. It accomplishes the goal while removing the restrictions of local and distant flaps. Although donor site morbidity is acceptable, specific consent is required due to the possibility of functional and cosmetic impairment. Additional cases with a larger sample size and a longer follow-up period can assist corroborate our first findings...
May 9, 2024: BMJ Case Reports
https://read.qxmd.com/read/38724212/deficiency-of-adenosine-deaminase-2-a-genetic-autoinflammatory-disorder-mimicking-childhood-polyarteritis-nodosa
#33
JOURNAL ARTICLE
Shweta Mhatre, Mamta Muranjan, Sunil Karande, Aparna Thirumalaiswamy
A girl in the early adolescent age group presented with multisystem manifestations in the form of periodic fever, recurrent abdominal pain, hypertension, seizure, skin lesions over the chest and gangrene over the left ring and middle fingertips. Her condition had remained undiagnosed for 11 years. On evaluation, she had features of polyarteritis nodosa (PAN) (multiple aneurysms, symmetric sensorimotor peripheral neuropathy, superficial ulcers, digital necrosis, myalgia, hypertension and proteinuria). As childhood PAN is a phenocopy of adenosine deaminase 2 with a different management strategy, whole-exome sequencing was performed, which revealed a pathogenic variant in ADA2 gene...
May 9, 2024: BMJ Case Reports
https://read.qxmd.com/read/38724211/placental-mesenchymal-disease-masquerading-as-molar-pregnancy-with-a-favourable-maternal-and-fetal-outcome
#34
JOURNAL ARTICLE
Aparna Sharma, Tanisha Gupta, Ruchi Rathore, Oishika Chakraborty
Placental mesenchymal dysplasia (PMD) is an exceptionally rare placental anomaly characterised by placentomegaly and grape-like vesicles resembling partial mole on ultrasonography, yet it can coexist with a viable fetus. We present the case of a primigravida who presented at 22 weeks gestation with a suspected partial mole but with a normally growing fetus. The differential diagnoses considered included placental mesenchymal disease, partial mole and twin pregnancy with molar pregnancy. With normal beta HCG levels and prenatal invasive testing reports, a probable diagnosis of PMD was made, and after thorough counselling, the decision was made to continue the pregnancy...
May 9, 2024: BMJ Case Reports
https://read.qxmd.com/read/38724210/acquired-hyperkalaemia-leading-to-periodic-paralysis-an-emergency-department-perspective
#35
JOURNAL ARTICLE
Preh Arbab, Zofishan Anwar, Raveeha Aamir, Fareed Ahmed
Hyperkalaemia is one of the common electrolyte imbalances dealt with in the emergency department and is caused by extracellular accumulation of potassium ions above normal limits usually greater than 5.0-5.5 mmol/L. It is found in a total of 1-10% of hospitalised patients usually associated with chronic kidney disease and heart failure. The presentation can range from being asymptomatic to deadly arrhythmias. The appearance of symptoms depends on the rate of change rather than just the numerical values. The rare presentation includes periodic paralysis characterised by the sudden onset of short-term muscle weakness, stiffness or paralysis...
May 9, 2024: BMJ Case Reports
https://read.qxmd.com/read/38719268/macular-corneal-dystrophy-with-iridofundal-coloboma-in-the-same-patient-a-unique-combination
#36
JOURNAL ARTICLE
Noopur Gupta, Arnav Panigrahi, Neerja Gupta, Seema Sen
A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made...
May 8, 2024: BMJ Case Reports
https://read.qxmd.com/read/38719266/large-retroperitoneal-lymphangioma
#37
JOURNAL ARTICLE
Jessica Chiang, Jacqueline Elise Woo, Alexander Hien Vu, Sandeep Sirsi
Abnormal cystic lymphangioma is a rare, benign tumour of lymphatic origin that often presents with subtle clinical symptoms. A man in his 20s sought medical attention for a progressively tender mass located in the right lower quadrant. Following ultrasound and CT imaging, surgical pathology confirmed the presence of abnormal cystic lymphangioma. This case is noteworthy because of the patient's young age and the retroperitoneal location. An exploratory laparotomy was performed, mitigating the risk of recurrence...
May 8, 2024: BMJ Case Reports
https://read.qxmd.com/read/38719263/distorted-normal-cells-mimicking-metastatic-deposits-in-bone-marrow-aspirate
#38
JOURNAL ARTICLE
Samikshya Thapa, Priyavadhana Balasubramanian, Subhajit Hajra, Neha Singh
No abstract text is available yet for this article.
May 8, 2024: BMJ Case Reports
https://read.qxmd.com/read/38719262/persistent-omphalomesenteric-duct-in-an-infant-with-trisomy-21
#39
JOURNAL ARTICLE
Arameh Aghababaie, Jennifer Ho, Arun Kelay, Penny Salt
We present the case of a term newborn with trisomy 21 who presented to the paediatric emergency department with periumbilical flare and green-brown discharge from a clamped umbilical cord, initially suspected to be omphalitis. However, it was noticed later, that when the infant strained or cried, a thick, bubbling and offensive green-brown discharge came out of the clamped umbilical cord with umbilical flatus. An ultrasound abdomen and umbilical cord confirmed the presence of a persistent omphalomesenteric duct (POMD)...
May 8, 2024: BMJ Case Reports
https://read.qxmd.com/read/38719259/staining-of-vitreous-by-indocyanine-green-dye-post-aqueous-angiography
#40
JOURNAL ARTICLE
Nitika Beri, Anuja Patil, Saurabh Verma, Tanuj Dada
No abstract text is available yet for this article.
May 8, 2024: BMJ Case Reports
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