Article
Medicine, General & Internal
Katerina Grafanaki, Spyridon Lygeros, Alexandros Spyridonidis, Maria Liga
Summary: In this case study, a young adult male with primary refractory Hodgkin's lymphoma developed cutaneous GvHD after stem cell transplantation and required immunosuppressive treatment. However, the patient also developed tongue lesions consistent with chronic GvHD, which were successfully resolved with Janus-associated kinase inhibitor therapy.
Article
Genetics & Heredity
Aude-Anais Olijnik, Noemi B. A. Roy, Caroline Scott, Joseph A. Marsh, Jill Brown, Karin Lauschke, Katrine Ask, Nigel Roberts, Damien J. Downes, Sanja Brolih, Errin Johnson, Barbara Xella, Melanie Proven, Ria Hipkiss, Kate Ryan, Per Frisk, Johan Makk, Eva-Lena Maria Stattin, Nandini Sadasivam, Louisa McIlwaine, Quentin A. Hill, Raffaele Renella, Jim R. Hughes, Richard J. Gibbons, Anja Groth, Peter J. McHugh, Douglas R. Higgs, Veronica J. Buckle, Christian Babbs
Summary: The study identified novel pathogenic variants in CDA-I patients, revealing genetic heterogeneity in the disease. The findings suggest that C15orf41 may be the key determinant of CDA-I, offering new insights into the disease mechanism.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Medicine, General & Internal
Roha Ahmad Choudhary, M. A. Rehman Siddiqui, Bushra Moiz, Saliha Ishaq
Summary: This is a rare case in which a patient presented with combined central retinal artery and vein occlusion associated with antiphospholipid syndrome. Accurate evaluation of patients with retinal vascular occlusions is important to prevent missed diagnosis of antiphospholipid syndrome and recurrent and more devastating vascular events.
Article
Medicine, General & Internal
Tran Nguyen, Saikripa M. Radhakrishnan, Srinidhi J. Radhakrishnan, David H. Johnson
Summary: Bilateral retinal detachment is a rare ocular manifestation of TTP. Prompt treatment with PLEX, prednisone, rituximab, and caplacizumab can lead to significant vision recovery.
Article
Medicine, General & Internal
Charlotte Willis, Max Williamson, Nicholas Constantinou, Emily Johns
Summary: An 81-year-old woman presented with symptoms suggestive of myasthenia gravis, but was found to also have a pelvic follicular lymphoma. After receiving radiotherapy and medication, her MG symptoms improved and the lymphoma went into remission, highlighting the importance of screening for other underlying conditions in MG patients.
Article
Medicine, General & Internal
Jessica Plessi, Giacomo Mori, Riccardo Magistroni, Gianni Cappelli
Summary: MBL is a lymphoproliferative condition characterized by B-cell clone expansion in peripheral blood with an indolent clinical course. The presence of a B clonal population is more common in the general population than CLL and NHL subtypes, typically not malignant and requiring only follow-up. Studies on MBL in organ transplant recipients are limited, raising concerns when enrolling MBL patients in waiting lists.
Article
Medicine, General & Internal
Tina Ernst, Stefan Aebi, Andrea Zander, Thilo Zander
Summary: BRAF V600E mutations are rare in patients with multiple myeloma, but they are associated with disease aggressiveness, extramedullary growth frequency, and survival period. The combination therapy of BRAF and MEK inhibitors has shown promising results in refractory MM patients.
Article
Medicine, General & Internal
Kesar Prajapati, Vikranti Sailor, Savan Patel, Malay Rathod
Summary: This case underscores the connection between pernicious anemia, vitamin B-12 deficiency, and hyperhomocysteinemia leading to recurrent cerebral venous thrombosis (CVT). The patient was cured with vitamin B-12 and anticoagulation therapy, emphasizing the importance of investigating levels of vitamin B-12 and homocysteine in CVT cases.
Article
Medicine, General & Internal
Swetha Paduri, Nitish Singh Nandu, Thomas Brucker, Paul Roach, Mukta Pant-Purohit
Summary: This case report presented a patient with atraumatic rupture of the spleen in the setting of chronic lymphocytic leukaemia with Richter's transformation confirmed on pathology. The patient presented to the emergency department with abdominal pain, and pathology showed infiltration of hyperproliferated cells in the spleen.
Article
Medicine, General & Internal
John Anthony Doherty, Christopher Paul Millward, Zaid Sarsam
Summary: This report describes a patient with May-Hegglin anomaly who presented with a rare spontaneous subdural haematoma requiring surgery on two occasions. Symptoms of MYH9-RD are typically mild, with life-threatening haemorrhage being rare.
Review
Medicine, General & Internal
Sara AlRasbi, Amira H. Al-Badi, Abdullah M. Al Alawi
Summary: A 65-year-old smoker presented to the emergency department with progressive digital ischaemia, fever, and weight loss, and was diagnosed with classic Hodgkin's lymphoma. This case highlights the importance of recognizing acral vascular syndrome in older patients, which may indicate an underlying malignancy.
Article
Medicine, General & Internal
Diana Rodrigues-Martins, Graca Buchner, Jorge Sousa Braga
Summary: This article reports the successful management of a pregnant woman with symptomatic haemophilia A, aiming to enhance knowledge on this topic and further improve outcomes for these mothers and their offspring.
Article
Medicine, General & Internal
Lorena Miguelanez Matute, Desiree van Noord, Nazik Rayman, Samara S. Guillen
Summary: In this case, a patient presented with progressive abdominal pain, weight loss, and pancytopenia. The rare diagnoses of median arcuate ligament syndrome (MALS) and gelatinous marrow transformation (GMT) were established. Restoring nutritional status may reverse the abnormalities in the bone marrow.
Article
Medicine, General & Internal
Paula Evelyn Beatty, Lisa Killion, Johnny Mc Hugh, Ann-Marie Tobin
Summary: A 69-year-old woman presented with an 18-month history of recurrent eyelid bruising, leading to a diagnosis of amyloidosis secondary to multiple myeloma. Highlighted the importance of dermatological manifestations in amyloidosis for early diagnosis and potential organ involvement limitation.
Article
Medicine, General & Internal
Phillip Cuong Nguyen, Megan Dunstan, Beena Kumar, Michael Sze Yuan Low
Summary: Central pontine myelinolysis is usually associated with osmotic stress and rapid correction of hyponatraemia, rarely occurring in conjunction with malignancies. This case report highlights a unique instance where CPM was not only linked to a new diagnosis of diffuse large B-cell lymphoma, but also served as a key presenting feature.