scholarly journals KITD816V+ systemic mastocytosis associated with KITD816V+ acute erythroid leukaemia: first case report with molecular evidence for same progenitor cell derivation

2009 ◽  
Vol 62 (12) ◽  
pp. 1147-1149 ◽  
Author(s):  
S A McClintock-Treep ◽  
H-P Horny ◽  
K Sotlar ◽  
M K Foucar ◽  
K K Reichard
Keyword(s):  
Case Report ◽  
Progenitor Cell ◽  
Systemic Mastocytosis ◽  
Molecular Evidence ◽  
First Case

scholarly journals Highly Aggressive CD4-Positive Mast Cell Leukaemia (Leukaemic Variant) Associated with Isolated Trisomy 19 and Hemophagocytosis by Neoplastic Mast Cells: A Case Report with Challenging Experience and Review

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Dina Sameh Soliman ◽  
Ahmad Al-Sabbagh ◽  
Feryal Ibrahim ◽  
Amna Gameil ◽  
Mohamed Yassin ◽  
...  
Keyword(s):  
Mast Cell ◽  
Case Report ◽  
T Cell ◽  
Mast Cells ◽  
Systemic Mastocytosis ◽  
Peripheral Blood Smear ◽  
Skin Lesions ◽  
Acute Onset ◽  
Cell Leukaemia ◽  
First Case

Background. Mast cell leukaemia is a unique disease among hematopoietic neoplasms, being one of the rarest leukaemia subtypes. In addition, its prompt diagnosis is usually challenging. This is due to its heterogeneity in clinical presentations and cytomorphological and immunophenotypical features together with potential associations with other hematologic neoplasms which can complicate the condition and delay accurate diagnosis. To the best of our knowledge, this is the first case report of CD4-positive mast cell leukaemia. Case Presentation. A 39-year-old male presented with acute onset of fever, abdominal pain, and generalized body aches of two-week duration. Peripheral blood smear showed circulating blasts (13%) with coarsely basophilic granulation. Bone marrow (BM) aspirate showed extensive infiltration with immature mast cells of blast-like morphology with trilineage dysplasia and evident hemophagocytic activity exhibited by histiocytes and neoplastic mast cells. BM biopsy was diffusely infiltrated with many atypical mast cells positive for CD45, CD117, mast cell tryptase, CD25, and CD4 with partial positivity for CD7 and CD30. Cytogenetics showed an abnormal karyotype: 47, XY, +1947, XY, +19[13]/46, XY[9]. Molecular analysis revealed a KIT D816V mutation consistent with a diagnosis of systemic mastocytosis, mast cell leukaemia. Conclusion. The expression of T-cell associated markers by abnormal mast cells is well documented; however, CD4 and CD7 expression have not previously been described in association with mast cell leukaemia. Coexpression of CD2, CD4, CD7, and CD30 by the mast cells particularly in skin lesions may provoke misinterpretation as a cutaneous T-cell neoplasm. To the best of our knowledge, this is the first report of CD4-positive mast cell leukaemia. Moreover, hemophagocytic mast cell leukaemia is a very rare morphologic variant, and possible correlation between this finding and expression of CD4 by neoplastic mast cells is a topic for further investigation.

The first case report of Pembrolizumab inducing thyroiditis and hypophysitis

2020 ◽  
Author(s):  
Rahman Maraqa Sima Abdel ◽  
Robert McMahon ◽  
Anusha Pinjala ◽  
Gastelum Alheli Arce ◽  
Mohsen Zena
Keyword(s):  
Case Report ◽  
First Case

Harel-Yoon syndrome: the first case report from Saudi Arabia

2020 ◽  
pp. 22-27 ◽  
Author(s):  
Alaa AlAyed ◽  
Manar Samman ◽  
Abdul Peer-Zada ◽  
Mohammed Almannai
Keyword(s):  
Saudi Arabia ◽  
Case Report ◽  
First Case

Case Report: Management of a Patient with mTBI and Vestibular Hypofunction with the Binasal Occlusion Technique

2018 ◽  
pp. 87-90
Keyword(s):  
Case Report ◽  
Visual Motion ◽  
Hand Movement ◽  
Motion Sensitivity ◽  
Vestibular Hypofunction ◽  
First Case ◽  
Neurological Exam ◽  
History Of ◽  
Occlusion Technique ◽  
Visual Vertigo

Background: Binasal Occlusion (BNO) is a clinical technique used by many neurorehabilitative optometrists in patients with mild traumatic brain injury (mTBI) and increased visual motion sensitivity (VMS) or visual vertigo. BNO is a technique in which partial occluders are added to the spectacle lenses to suppress the abnormal peripheral visual motion information. This technique helps in reducing VMS symptoms (i.e., nausea, dizziness, balance difficulty, visual confusion). Case Report: A 44-year-old AA female presented for a routine eye exam with a history of mTBI approximately 33 years ago. She was suffering from severe dizziness for the last two years that was adversely impacting her ADLs. The dizziness occurred in all body positions and all environments throughout the day. She was diagnosed with vestibular hypofunction and had undergone vestibular therapy but reported little improvement. Neurological exam revealed dizziness with both OKN drum and hand movement, especially in the left visual field. BNO technique resulted in immediate relief of her dizziness symptoms. Conclusion: To our knowledge, this is the first case that illustrates how the BNO technique in isolation can be beneficial for patients with mTBI and vestibular hypofunction. It demonstrates the success that BNO has in filtering abnormal peripheral visual motion in these patients.

Anesthesia in Carvajal syndrome; the first case report

2020 ◽  
Vol 24 (1) ◽  
pp. 105-107
Author(s):  
Sedighe Shahhosseini ◽  
Reza Aminnejad ◽  
Amir Shafa ◽  
Mehrdad Memarzade
Keyword(s):  
Intensive Care ◽  
Case Report ◽  
Surgical Resection ◽  
Genetic Disorder ◽  
Anesthetic Technique ◽  
Close Monitoring ◽  
Anesthesia Management ◽  
Rare Genetic Disorder ◽  
First Case ◽  
Anesthetic Considerations

Carvajal syndrome is a rare genetic disorder. Patients reporting for surgery pose some difficulties in anesthesia management. In this case report we present the case of a 12-year-old boy, who was a known case of Carvajal syndrome, referred for surgical resection of perianal condyloma. Close monitoring of hemodynamic status is the mainstay of anesthetic considerations in such patients. As in any other challenging scenario, it should be kept in mind that ‘there is no safest anesthetic agent, nor the safest anesthetic technique; there is only the safest anesthesiologist’. Citation: Shahhosseini S, Aminnejad R, Shafa A, Memarzadeh M. Anesthesia in Carvajal syndrome; the first case report. Anaesth pain intensive care 2020;24(1):___ DOI: https://doi.org/10.35975/apic.v24i1.

scholarly journals Isolated Dysphagia in a Patient with Medial Medullary Infarction – Effects of Evidence-Based Dysphagia Therapy: A Case Report

2021 ◽  
pp. 190-199
Author(s):  
Samra Hamzic ◽  
Patrick Schramm ◽  
Hassan Khilan ◽  
Tibo Gerriets ◽  
Martin Juenemann
Keyword(s):  
Case Report ◽  
Vascular Occlusion ◽  
Evidence Based ◽  
Severe Dysphagia ◽  
First Case ◽  
Jaw Opening ◽  
Medial Medullary Infarction ◽  
Dysphagia Therapy ◽  
Evidence Based Therapy ◽  
Medullary Infarction

Medial medullary infarction (MMI) is a vascular occlusion in the medulla oblongata leading to certain constellations of neurological symptoms and seriously affecting the patient. Effective evidence-based treatment of severe dysphagia as sole symptom of MMI has not yet been reported. This case study aims to report successful effects of evidence-based therapy based on findings of dysphagia symptoms and pathophysiology of swallowing by flexible endoscopic evaluation of swallowing (FEES) in severe isolated dysphagia after MMI. FEES was performed to evaluate swallowing pathophysiology and dysphagia symptoms in a 57-year-old male with severe dysphagia after MMI. On the basis of FEES findings, simple and high-frequent evidence-based exercises for improvement of swallowing were implemented: thermal stimulation of faucial arches, Jaw Opening Exercise, and Jaw Opening Against Resistance. After 7 weeks of high-frequent evidence-based therapy and regular FEES evaluation the patient was set on full oral diet with no evidence of aspiration risk. In a first case report of isolated dysphagia in MMI our case illustrates that high-frequent evidence-based dysphagia therapy in combination with FEES as the method to evaluate and monitor swallowing pathophysiology can lead to successful and quick rehabilitation of severely affected dysphagic patients.

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