Severe congenital neutropenia (SCN) is a heterogeneous disease condition with a variable family history and a propensity to progress towards myelodysplastic syndrome (MDS) and acute myeloblastic leukemia (AML). In a subgroup of patients, point mutations in the G-CSF-R gene have been found. These nonsense mutations result in the truncation of the C-terminal cytoplasmic region, a subdomain that i...

Fanconi’s anemia (FA) is the most frequent inherited cause of Bone Marrow Failure (BMF) [1]. It is transmitted through both autosomal and X-linked recessive modes [2]. It affects all ethnic groups. It is characterized by congenital malformations, progressive marrow failure and predisposition to acute myelogenous leukemia (AML) and other malignancies [3]. The hypersensitivity to DNA cross-linkin...

High-resolution computed tomography is an important diagnostic instrument in pneumology. The 'tree-in-bud' sign is a common finding in HRCT scans. The list of the most frequent differential diagnoses for 'tree-in-bud' sign includes infections with Mycobacterium tuberculosis, nontuberculous mycobacteria, and other bacterial, fungal, or viral pathogens. Other causes could be immunological, congen...

Granulocyte colony-stimulating factor (G-CSF) is a key regulator of granulopoiesis via stimulation of a specific cell-surface receptor, the G-CSF-R, found on hematopoietic progenitor cells as well as neutrophilic granulocytes. It is perhaps not surprising, therefore, that mutations of the G-CSF-R has been implicated in several clinical settings that affect granulocytic differentiation, particul...

midface bones are an unusual site for primary presentation and relapse in acute lymphoblastic leukemia. herein, we describe a case of acute pre b cell lymphoblastic leukemia with leukemic infiltration of maxilla and bone marrow involvement. at the time of relapse, the patient presented again with maxilla involvement and the phenotype changed to biphenotypic lymphoblastic leukemia. our case sugg...

Background: Environment of Basrah is seriously contaminated with chemical leukomogens as a result of recent military conflicts. Many studies in the past few years have reported an increase in the incidence of leukemia in Basrah. This study was designed to study the risk and pattern of childhood leukemia in Basrah, Iraq, from 2003 to 2007.Materials and Methods: This hospital-based cancer registr...

one of the most preventable causes of mental and growth retardation is congenital hypothyroidism (ch). this study tries to investigate growth and mental outcome of patients with ch. since november 2006 and november 2007 in guilan province, north of iran, all neonates who were diagnosed with ch, evaluated for etiology of ch by laboratory follow up, thyroid sonography or scan. growth and developm...

Acute leukemia which is the most common cancer in children is a heterogeneous group of clonal malignancies. The conversion of the leukemic cell lineage during the course of the disease or later is termed lineage switch. It has been rarely reported in the literature. In leukemia lineage switch, conversions from lymphoblastic leukemia to myeloid leukemia or vice versa are reported. Herein, we rep...