Rare case of hereditary aplastic anemia [Fanconis anemia]

2016 ◽  
Vol 5 (03) ◽  
pp. 4905
Author(s):  
S. R. Agarkhedkar ◽  
Vineeta Pande ◽  
Sandeep Kuchi* ◽  
Yojana Sunkoj ◽  
P. V. Raghavaiah
Keyword(s):  
Mitomycin C ◽  
Rare Case ◽  
Autosomal Recessive ◽  
The Body ◽  
Fanconi Anaemia ◽  
Hematopoietic Stem ◽  
Curative Therapy ◽  
Hypochromic Anaemia ◽  
Chromosomal Fragility ◽  
Rare Autosomal Recessive Disease

Fanconi anaemia is rare autosomal recessive disease characterized by pancytopenia, varied phenotypic abnormalities, hyperpigmentation and developmental delay1. It is diagnosed by Mitomycin C sensitive chromosomal fragility test of blood lymphocytes2. We are reporting a rare case of Fanconi anaemia in a 12-year-old child. She has grossly hyperpigmentation over face, tongue, neck, intertriginous area upper and lower limb. Elder sister also had hyperpigmentation all over the body. Peripheral smear revealed macrocytic hypochromic anaemia with few ovalocytes, leukopenia and thrombocytopenia with elevated red blood cell mean corpuscular volume. Fanconi anaemia was diagnosed by doing Mitomycin c stress cytogenetic test for Fanconis anaemia. Hematopoietic stem cell transplantation is the only curative therapy for the hematologic abnormalities in fanconi anaemia3.

scholarly journals Severe Aplastic Anemia in a Patient with Erythropoietic Protoporphyria Successfully Treated by Avatrombopag

2021 ◽  
Author(s):  
ZIMING JIANG ◽  
Xianyong Jiang ◽  
Miao Chen
Keyword(s):  
Aplastic Anemia ◽  
Autosomal Recessive ◽  
Complete Response ◽  
Erythropoietic Protoporphyria ◽  
Hematopoietic Stem ◽  
First Line Therapy ◽  
First Case ◽  
Thrombopoietin Receptor ◽  
Severe Cirrhosis ◽  
Rare Autosomal Recessive Disease

Abstract Erythropoietic protoporphyria (EPP) is a rare autosomal recessive disease presented with protoporphyrin deposition, photosensitivity and even liver damage. Avatrombopag, a thrombopoietin receptor agonists, has been applied for immune thrombocytopenia and periprocedural thrombocytopenia in patients with chronic liver disease. Here, we reported the first case of a 19-year-old man with acquired aplastic anemia associated with congenital EPP. EPP has led to a severe cirrhosis and liver dysfunction in this patient, which limited hematopoietic stem cell transplantation and immunosuppressive therapy to cure aplastic anemia. We administered Avatrombopag as the first-line therapy. After 8 months, we observed that avatrombopag induced complete response of aplastic anemia safely.

scholarly journals A Rare Case of Chronic Kidney Disease with Photophobia

2021 ◽  
Vol 7 (3) ◽  
pp. 1-3
Author(s):  
Benoy Varghese ◽  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Infantile Form ◽  
Rare Autosomal Recessive Disease

Cystinosis is a rare autosomal recessive disease characterized by cystine accumulation in the lysosome leading to various organdysfunction. Kidneys are severely affected, of which nephropathic infantile form is the most common.

Linezolid Induced Skin Reactions in a Multi Drug Resistant Infective Endocarditis Patient: A Rare Case

2020 ◽  
Vol 15 (3) ◽  
pp. 222-226 ◽  
Author(s):  
Asha K. Rajan ◽  
Ananth Kashyap ◽  
Manik Chhabra ◽  
Muhammed Rashid
Keyword(s):  
Case Report ◽  
Infective Endocarditis ◽  
Rare Case ◽  
Case Reports ◽  
Multidrug Resistant ◽  
The Body ◽  
Prior History ◽  
Skin Reactions ◽  
Rare Case Report ◽  
Multiple Drugs

Rationale: Linezolid (LNZ) induced Cutaneous Adverse Drug Reactions (CADRs) have rare atypical presentation. Till date, there are very few published case reports on LNZ induced CADRs among the multidrug-resistant patients suffering from Infective Endocarditis (MDR IE). Here, we present a rare case report of LNZ induced CARs in a MDR IE patient. Case report: A 24-year-old female patient was admitted to the hospital with chief complaints of fever (101°C) associated with rigors, chills, and shortness of breath (grade IV) for the past 4 days. She was diagnosed with MDR IE, having a prior history of rheumatic heart disease. She was prescribed LNZ 600mg IV BD for MDR IE, against Staphylococcus coagulase-negative. The patient experienced flares of cutaneous reactions with multiple hyper-pigmented maculopapular lesions all over the body after one week of LNZ therapy. Upon causality assessment, she was found to be suffering from LNZ induced CADRs. LNZ dose was tapered gradually and discontinued. The patient was prescribed corticosteroids along with other supportive care. Her reactions completely subsided and infection got controlled following 1 month of therapy. Conclusion: Healthcare professionals should be vigilant for rare CADRs, while monitoring the patients on LNZ therapy especially in MDR patients as they are exposed to multiple drugs. Moreover, strengthened spontaneous reporting is required for better quantification.

Hematological and toxicological evaluation of formaldehyde as a potential cause of human leukemia

2010 ◽  
Vol 30 (7) ◽  
pp. 725-735 ◽  
Author(s):  
Bernard D Goldstein
Keyword(s):  
Bone Marrow ◽  
Chromosomal Abnormalities ◽  
Species Difference ◽  
The Body ◽  
Myelogenous Leukemia ◽  
Laboratory Animals ◽  
Human Leukemia ◽  
Toxicological Evaluation ◽  
Hematopoietic Stem ◽  
Hematological Cancers

Epidemiological findings suggesting that formaldehyde exposure is associated with a higher risk of acute myelogenous leukemia (AML) and other hematological cancers have led to consideration of the potential mechanism of action by which inhalation of this rapidly reactive agent can cause bone marrow cancer. Two major mechanism-based arguments against formaldehyde as a leukemogen have been the difficulty in envisioning how inhaled formaldehyde might penetrate to the bone marrow; and the lack of similarity of non-cancer effects to other known human myeloleukemogens, particularly the absence of pancytopenia in humans or laboratory animals exposed to high levels. However, both of these arguments have been addressed by the recent finding of a pancytopenic effect and chromosomal abnormalities in heavily exposed Chinese workers which, if replicated, are indicative of a genotoxic effect of formaldehyde on hematopoietic stem cells that is in keeping with other known human leukemogens. Review of the body of evidence suggests an apparent discrepancy between studies in laboratory animals, which generally fail to show evidence of penetration of formaldehyde into the blood or evidence of blood or bone marrow genotoxicity, and studies of exposed humans in which there tends to be evidence of genotoxicity in circulating blood cells. One possible explanation for this discrepancy is species difference. Another possible explanation is that myeloid precursors within the nasal mucosa may be the site for leukemogenesis. However, chloromas, which are local collections of myeloid tumor cells, are rarely if ever found in the nose. Other proposed mechanisms for formaldehyde leukemogenesis are reviewed, and dose issues at the interface between the epidemiological and hematotoxicological findings are explored.

scholarly journals Siblings with Bardet Beidl Syndrome

2013 ◽  
Vol 33 (3) ◽  
pp. 236-238
Author(s):  
Ram Peter ◽  
Priya Jose ◽  
MNG Nair
Keyword(s):  
Clinical Features ◽  
Autosomal Recessive ◽  
Clinical Presentation ◽  
The Body ◽  
Bardet Biedl Syndrome ◽  
Recessive Condition ◽  
Autosomal Recessive Condition

Bardet Biedl syndrome is an autosomal recessive condition affecting many parts of the body. Incidence of BBS is 1 in 100000. Its clinical features varies in person to person though from same family too. We are reporting two siblings with Bardet Beidl syndrome with different clinical presentation. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8081   J. Nepal Paediatr. Soc. 2013;33(3):236-238

scholarly journals The Act of Controlling Adult Stem Cell Dynamics: Insights from Animal Models

Biomolecules ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 667
Author(s):  
Meera Krishnan ◽  
Sahil Kumar ◽  
Luis Johnson Kangale ◽  
Eric Ghigo ◽  
Prasad Abnave
Keyword(s):  
Stem Cells ◽  
Animal Models ◽  
Adult Stem Cells ◽  
The Body ◽  
In Vivo Studies ◽  
Self Renewal ◽  
Hematopoietic Stem ◽  
Organ Systems

Adult stem cells (ASCs) are the undifferentiated cells that possess self-renewal and differentiation abilities. They are present in all major organ systems of the body and are uniquely reserved there during development for tissue maintenance during homeostasis, injury, and infection. They do so by promptly modulating the dynamics of proliferation, differentiation, survival, and migration. Any imbalance in these processes may result in regeneration failure or developing cancer. Hence, the dynamics of these various behaviors of ASCs need to always be precisely controlled. Several genetic and epigenetic factors have been demonstrated to be involved in tightly regulating the proliferation, differentiation, and self-renewal of ASCs. Understanding these mechanisms is of great importance, given the role of stem cells in regenerative medicine. Investigations on various animal models have played a significant part in enriching our knowledge and giving In Vivo in-sight into such ASCs regulatory mechanisms. In this review, we have discussed the recent In Vivo studies demonstrating the role of various genetic factors in regulating dynamics of different ASCs viz. intestinal stem cells (ISCs), neural stem cells (NSCs), hematopoietic stem cells (HSCs), and epidermal stem cells (Ep-SCs).

Wilson Disease

1996 ◽  
Vol 17 (12) ◽  
pp. 448-448
Author(s):  
Philip O. Ozuah
Keyword(s):  
Biliary Excretion ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Dietary Copper ◽  
Hepatic Copper ◽  
Excess Copper ◽  
Excessive Accumulation

Wilson disease (hepatolenticular degeneration) is an autosomal recessive, inherited disorder of copper metabolism resulting in excessive accumulation of copper in the liver, brain, and other organs of the body. The manifestations of the disease are related directly to this accumulation of copper. Copper homeostasis normally is a product of the balance between intestinal absorption of dietary copper and hepatic biliary excretion of excess copper. In Wilson disease, incorporation of hepatic copper into ceruloplasmin is defective and excretion of copper in the bile is reduced. A low level of ceruloplasmin, which until a few years ago was erroneously considered to be the basis for the disease, is a consequence of the underlying metabolic defect.

scholarly journals Mouse Models of Antigen Presentation in Hematopoietic Stem Cell Transplantation

2021 ◽  
Vol 12 ◽  
Author(s):  
Motoko Koyama ◽  
Geoffrey R. Hill
Keyword(s):  
T Cells ◽  
Stem Cell ◽  
Stem Cell Transplantation ◽  
Cell Transplantation ◽  
Mouse Models ◽  
Major Complication ◽  
Hematopoietic Stem ◽  
Curative Therapy ◽  
Donor T Cells ◽  
Immune Pathology

Allogeneic stem cell transplantation (alloSCT) is a curative therapy for hematopoietic malignancies. The therapeutic effect relies on donor T cells and NK cells to recognize and eliminate malignant cells, known as the graft-versus-leukemia (GVL) effect. However, off target immune pathology, known as graft-versus-host disease (GVHD) remains a major complication of alloSCT that limits the broad application of this therapy. The presentation of recipient-origin alloantigen to donor T cells is the primary process initiating GVHD and GVL. Therefore, the understanding of spatial and temporal characteristics of alloantigen presentation is pivotal to attempts to separate beneficial GVL effects from detrimental GVHD. In this review, we discuss mouse models and the tools therein, that permit the quantification of alloantigen presentation after alloSCT.

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