Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease

Gaucher disease is an inborn error of metabolism resulting from the deficiency of the enzyme glucocerebrosidase and consequent accumulation of glucocerebroside within the lysosomes of macrophages. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease, and results from the progressive infiltration of lipid-laden cells in various organs. Common manifestations of Gaucher disease include enlarged liver and/or spleen (hepatosplenomegaly), bone marrow disease (pancytopenia) and bone abnormalities, which are extremely variable and can affect multiple skeletal sites. While bone involvement of long bones and vertebrae is a well-recognised feature of Gaucher disease, jawbone involvement is less commonly noted. Here, we describe a case of a 63-year-old patient with type 1 Gaucher disease with a history of long-term use of bisphosphonates and who had presented with dental pain, with subsequent investigations confirming the radiological features of jaw involvement in Gaucher disease, including periodontal disease.

A Case Report on a Rare Inherited Bone Marrow Failure Syndrome: Dyskeratosis Congenita.

Dyskeratosis congenita is a rare type of inherited bone marrow failure syndromes (IBMFs) characterized by ectodermal dysplasia, bone marrow failure and cancer predisposition. Accelerated telomere shortening is supposed to be the causal mechanism of this disease. Features of ectodermal dysplasia appears early and may give clues of suspicion of forthcoming bone marrow disease. It has variable presentation and severe form of disease presents earlier. This a case report on a 2 year 2-month old boy who presented with features of bone marrow failure and had abnormality of skin, nail and oral mucosa. Bangladesh J Child Health 2020; VOL 44 (2) :122-125

Antitumor activity without on-target off-tumor toxicity of GD2–chimeric antigen receptor T cells in patients with neuroblastoma

The reprogramming of a patient’s immune system through genetic modification of the T cell compartment with chimeric antigen receptors (CARs) has led to durable remissions in chemotherapy-refractory B cell cancers. Targeting of solid cancers by CAR-T cells is dependent on their infiltration and expansion within the tumor microenvironment, and thus far, fewer clinical responses have been reported. Here, we report a phase 1 study (NCT02761915) in which we treated 12 children with relapsed/refractory neuroblastoma with escalating doses of second-generation GD2-directed CAR-T cells and increasing intensity of preparative lymphodepletion. Overall, no patients had objective clinical response at the evaluation point +28 days after CAR-T cell infusion using standard radiological response criteria. However, of the six patients receiving ≥108/meter2 CAR-T cells after fludarabine/cyclophosphamide conditioning, two experienced grade 2 to 3 cytokine release syndrome, and three demonstrated regression of soft tissue and bone marrow disease. This clinical activity was achieved without on-target off-tumor toxicity. Targeting neuroblastoma with GD2 CAR-T cells appears to be a valid and safe strategy but requires further modification to promote CAR-T cell longevity.

Newborn myeloid sarcoma

Myeloid sarcoma according to the WHO 2016 version is an independent subgroup of acute myeloid leukemia, characterized by extramedullary tumor-like proliferation of myeloid precursor cells. Myeloid sarcoma can occur without bone marrow disease, associated with myeloid neoplasias or as a relapse of acute myeloid leukemia, too. In this article we describe the case of a 3 week-old newborn, whose myeloid sarcoma presented with skin symptoms and was successfully treated with AML BMF98 chemotherapy following allogeneic hematopoietic stem cell transplantation. Hereby we also summarize the most important current knowledges of the disease.

Acquired Pure Red Cell Aplasia Associated with Chronic Myelomonocytic Leukemia: Too Many of One, Not Enough of the Other

There is a growing body of literature outlining the association between certain hematological malignancies, such as chronic myelomonocytic leukemia (CMML), and systemic autoimmune diseases. Diagnosis and management can be difficult, particularly when autoimmune phenomena overlap with features of the underlying illness. This is especially the case in patients who develop immune-mediated cytopenias in the context of underlying bone marrow disease. CMML associated with immune thrombocytopenia and hemolytic anemia has been reported a number of times in the literature; however, there are only scattered case reports describing CMML associated with acquired pure red cell aplasia. Here, we describe the diagnostic and management approach to a patient who developed both diseases.

Mobile Health (mHealth) and Advances in Noninvasive Diagnosis of Anemia: An Overview

Anemia is a public health problem that can have different causes, such as iron deficiency, vitamin deficiency, inflammation, hemolytic anemias, and anemias associated with bone marrow disease. Anemia shows a decrease in the concentration of hemoglobin, a pigmented molecule in the erythrocytes. The objectives of this review were to highlight the impact of nutritional factors on morbidity and mortality caused by anemia and to present different non-invasive approaches that use a smartphone to analyze hemoglobin levels to detect anemia. According to the records of the Brazilian Unified Health System (SUS, in the Portuguese acronym), ∼ 440,000 people checked in hospitals due to anemia between January 2015 and April 2020, with 215,000 deaths. The government spent ∼ 294 million Brazilian Reais (more than 50 million US dollars) on anemia hospitalization cases during this period. There is a worldwide search to provide noninvasive diagnostics and mobile health (mHealth) tools to help diagnosing anemia. The smartphone appears to be a viable device to detect anemia by a camera with colorimetric analysis of images providing a quantitative, instantaneous, and noninvasive result. These images can be obtained as a photograph or extracted from video frames. The review presents three different methods of detecting anemia using a smartphone: i) photoplethysmograph from video obtained from the tip of the index finger, ii) photo of the palpebral conjunctiva, and iii) fingernail photo app. Therefore, it seems urgent that these approaches may be applied in routine clinical diagnosis to allow remote, needy, low-tech locations to have access to anemia screening.

Imaging in Paediatric Oncology

All superficial and abdominal masses in children should be first evaluated with ultrasound including Doppler assessment for lesion vascularity. Many benign and all malignant masses will need further evaluation with CT or MRI. For non-CNS tumours, MRI is preferred over CT, if feasible, bearing in mind anaesthesia may be needed for children under seven years of age. MRI is preferable to CT because of a lack of ionizing radiation, better soft-tissue evaluation in general, improved depiction of possible bone marrow disease, and, where present, better demonstration of spinal cord compression. Most non-CNS tumours, with the exception of neuroblastoma, would merit a routine CT of the chest for disease staging. Characteristics of individual tumour types, and the emerging role of nuclear medicine in staging and response assessment, will be mentioned in the chapter.

A new diagnostic work-up for defining anemia etiologies: a cohort study in patients ≥ 50 years in general practices

Background. To study etiologies of anemia using an extensive laboratory analysis in general practices. Method. An extensive laboratory analysis was performed in blood of newly diagnosed anemia patients aged ≥ 50 years from the general population in the city of Dordrecht area, the Netherlands. Eight laboratory-orientated etiologies of anemia were defined. Patients were assigned one or more of these etiologies on the basis of their test results. Results. Blood of 4152 patients (median age 75 years; 49% male) was analyzed. The anemia etiology was unclear in 20%; a single etiology was established in 59%; and multiple etiologies in 22% of the patients. The most common etiologies were anemia of chronic disease (ACD) (54.5%), iron deficiency anemia (IDA) (19.1%) and renal anemia (13.8%). The most common single etiologies were IDA (82%) and ACD (68%), while the multiple etiologies most commonly included folic acid deficiency (94%) and suspected bone marrow disease (88%). Older age was associated with a lower incidence of IDA and a higher incidence of renal anemia. Mild anemia was more often associated with ACD and uncertain anemia, while severe anemia was mainly seen in patients with IDA. Conclusion. Extensive laboratory analysis in anemic patients from the general population helped clarify the etiology of anemia and revealed many various combinations of etiologies in a significant proportion of patients. Age, sex and the severity of anemia are predictive of the underlying etiology.