History-taking model
Kaji Sritharan, Vivian A Elwell, Sachi Sivananthan in Essential OSCE Topics for Medical and Surgical Finals, 2007
Kneel down at the side of the bed and ask the patient whether they have pain in their abdomen. Start with non-tender areas first, and be systematic. Superficial (nine quadrants) palpation.Deep palpation.Organomegaly:AAA (epigastric area above umbilicus)liver (breathe in and out, starting in right iliac fossa)spleen (breathe in and out, starting in right iliac fossa)kidney (ballot).Rebound tenderness.Shifting dullness (ascites).
Oncology
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
The disease may involve skeleton, skin, lymph nodes, liver, lungs, spleen, bone marrow, or CNS. Single system disease, which occurs in approximately 70% of cases, involves one organ or system, such as the skeleton (Fig. 12.12), skin or lymph nodes and presents with a bone or soft tissue lump or skin rash in an otherwise well child. Craniofacial involvement with proptosis or mastoiditis may result in diabetes insipidus due to involvement of the posterior pituitary and loss of hearing due to damage to the inner ear. Multi-system disease (Figs 12.13, 12.14) involves two or more organs or systems. Involvement of the ‘risk’ organs – liver, spleen and bone marrow – causes fever, failure to thrive, widespread rash, anaemia and organomegaly, with a more aggressive progression and poorer outcome.
Paper 3
Aalia Khan, Ramsey Jabbour, Almas Rehman in nMRCGP Applied Knowledge Test Study Guide, 2021
Which one statement is not true about acute lymphoblastic leukaemia (ALL)? White blood cell count >50 × 109/L is associated with a worse prognosis.Female gender is associated with a worse prognosis.Bulky organomegaly is associated with a worse prognosis.Central nervous disease is associated with a worse prognosis.Bulky lymphadenopathy is associated with a worse prognosis.
PPARG, GNG12, and CD19 are potential independent predictors of central nerve recurrence in childhood acute lymphoblastic leukemia
Published in Hematology, 2023
Shan Zhang, Yansong Tu, Hurong Lai, Huijun Chen, Huaijun Tu, Jian Li
Studies have reported that sex, hepatomegaly, central nervous system status and age [6–8], neuronal-glial antigen-2 (NG2) expression [9], and CNS microenvironment [10] are all associated with CNS relapse of childhood ALL. Another study showed that the up-regulation of the PBx1 gene in B-cell leukemia in mouse CNS microenvironment could enhance the chemotherapy-resistance and self-renewal characteristics of leukemia cells [11]. Organomegaly at diagnosis was a highly significant clinical predictor for relapse [12]. In addition, acute leukemia patients with CNSL, which showed positive CD19 expression in tumor cell immunotyping and remission after anti-CD19 CAR T cell therapy [13]. It could also be a potential predictor. However, as these studies were based only on clinical data or animal experiments, there is still no independent predictor and lack of a corresponding prediction model for CNS relapse in childhood ALL.
Cranio-spinal Rosai Dorfman disease: case series and literature review
Published in British Journal of Neurosurgery, 2019
Shashank S. Joshi, Shilpa Joshi, Girish Muzumdar, Keki E. Turel, Rajan M. Shah, Indoo Ammbulkar, Muhammad Masood Hussain, Kishor A. Choudhari
3) Inherited genetic disorders- Recently two inherited disorders, Auto-immune lympho-proliferative syndrome (ALPS) and Faisalabad histiocytosis (FHC) have been found to be associated with RDD.18 ALPS is a rare inherited disorder which has resulted from defective apoptotic pathway mediated by Fas and Fas ligand. Apparently, this results in failure of apoptosis of mature lymphocytes which tend to collect in the lymphoreticular organs causing organomegaly.18,30 The majority of ALPS cases have mutation of the TNFRSF6 gene which encodes for Fas protein.18,31 FHC is an autosomal recessive disorder presenting with histology similar to RDD. Genetic studies confirmed its linkage to chromosome 10q22.1 and showed mutations in SLC29A3. SLC29A3 gene encodes an intracellular nucleotide transporter (hENT3). The exact mechanism is not known but hENT3 is supposed to alter apoptotic pathways.18,32
Chronic myelomonocytic leukemia - a review
Published in Expert Review of Hematology, 2021
Thomas P. Thomopoulos, Anthi Bouhla, Sotirios G. Papageorgiou, Vasiliki Pappa
Recently, the MDS/MPN International Working Group, proposed new response criteria for CMML and other MDS/MPN overlap syndromes, incorporating reduction in blast percentage, improvement of anemia and thrombocytopenia as well as correction of WBC, monocyte, and peripheral IMC counts and regression of splenomegaly [98]. A novel feature of the criteria is introduction of an entity named ‘clinical benefit’ based on improvement evaluated by the myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF) scoring system [99]. Although, the new criteria have been successfully validated in a small retrospective CMML cohort, prospective validation in large cohorts is in need [100]. In clinical practice, periodical evaluation of patients should include general symptoms, complete blood count, and physical examination for organomegaly. Bone marrow, including cytogenetic analysis, should be performed, if indicated by alterations in the aforementioned aspects [92].