Developmental Disorders of the Lymphatics

An information blog for disorders of the lymphatics. For all articles, please click on "Archives" - Due to spammers, I will no longer allow comments, sorry.

Monday, November 24, 2008

Interstitial magnetic resonance lymphography: the clinical effectiveness of a new method.

Interstitial magnetic resonance lymphography: the clinical effectiveness of a new method.
Lymphology. 2008 Sep

Dimakakos E, Koureas A, Koutoulidis V, Skiadas V, Katsenis K, Arkadopoulos N, Gouliamos A, Vlachos L.
Vascular Unit of 2nd Surgical Clinic, University of Athens, Greece.

The aim of this study is to evaluate effectiveness of interstitial magnetic resonance lymphography as an examination for the depiction of the lymphatic system in humans by comparison with direct x-ray lymphography. We studied 14 subjects (two volunteers and 12 patients with clinical suspicion of lymphedema of the lower extremities). We first administered subcutaneous gadobutrol between the toes and performed MR lymphography. After seven days, we injected lipiodol into the lymph vessels of 8 patients and performed x-ray direct lymphography to compare findings of two methods. We identified the normal lymphatic system (lymph vessels and inguinal lymph nodes) of volunteers. In seven subjects, we were able to image an abnormal lymphatic system with decreased number of lymph vessels, lymphoceles, and ectatic lymph vessels. In three subjects we identified both an abnormal lymphatic and venous system and in two patients only the venous system. In all cases x-ray direct lymphography confirmed the findings of the MR lymphography. No side effects were observed from either contrast agent. We expect that in the future, interstitial MR lymphography will be improved and evolve into a valuable diagnostic tool for the evaluation of lymphatic diseases particularly those who present with primarily lymphedema in the lower limbs or second, in regions other than extremities.


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Wednesday, November 12, 2008

Langerhans cell histiocytosis in children under one year

Langerhans cell histiocytosis in children under one year

Arch Argent Pediatr. 2008 Jun

Larralde M, Abad ME, Gomar B.
Hospital Alemán, Buenos Aires, Argentina.

Correspondencia: Dra. Begoña Gomar,

INTRODUCTION: Langerhans cell histiocytosis is characterized by a clonal proliferation of activated Langerhans cells that infiltrate various organs of the body. Occurs at any age, from newborn until adulthood, with an incidence peak at 1-4 years.

OBJECTIVE: To describe the morphologyc characteristics of skin lesions and clinical course of 15 patients with Langerhans cell histiocytosis.

METHODS: A retrospective review of the medical records of patients with Langerhans cell histiocytosis from Ramos Mejia Hospital and Aleman Hospital, between 1999-2007.

RESULTS: Review of medical records from 15 patients, 6 females and 9 males. Skin lesions were congenital in 8 cases and appeared between 2-12 months of age in 7 cases. The patients with congenital presentation only had a cutaneous manifestation; one patient who developed a systemic compromise (lung, liver and spleen) is currently under treatment. Three patients with presentation after birth only had cutaneous lesions, the others had a systemic disease. One of this patients died during treatment. Histopathology showed a histiocytic infiltrate in the papillary dermis with epidermotrophism; inmunomarking with S100 and CD1a was positive.

CONCLUSION: Both clinical manifestation (congenital and after birth) represent different ends of a spectrum of the same condition, with the potencial to develop into disseminated Langerhans cell histiocytosis.


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Tuesday, November 04, 2008

Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome.

Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome.
J Pediatr Hematol Oncol. 2008 Aug
Laux D, Kratz C, Sauerbrey A.
Pediatric Hematology and Oncology Unit, Department of Pediatrics, HELIOS Klinikum Erfurt, Erfurt, Germany.

Germline mutations in PTPN11 gene cause Noonan syndrome and the clinically similar LEOPARD syndrome (LS). LS is a rare congenital developmental disorder characterized by multiple lentigines, cardiac abnormalities, facial dysmorphism, retardation of growth, and deafness. Mutations in exons 7 and 12 of the PTPN11 gene can be identified in nearly 90% of patients with LS. PTPN11 gene encodes for an ubiquitously expressed protein tyrosine phosphatase SHP-2 involved in a variety of intracellular signaling processes in development and hematopoiesis. Somatic PTPN11 mutations contribute to leukemogenesis in children with hematologic malignancies including juvenile myelomonocytic leukemia, acute lymphoblastic leukemia, acute myeloid leukemia, and myelodysplasia. Two cases of leukemia (acute myeloid leukemia) have been reported in children with LS. The authors describe for the first time a girl with genetically confirmed LEOPARD syndrome presenting with common acute lymphoblastic leukemia.

PMID: 18799937 [PubMed - indexed for MEDLINE]

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B lymphocytes: how they develop and function

B lymphocytes: how they develop and function
Blood. 2008 Sep

LeBien TW, Tedder TF.
Department of Laboratory Medicine/Pathology, University of Minnesota Cancer Center, Minneapolis, MN 55455, USA.

The discovery that lymphocyte subpopulations participate in distinct components of the immune response focused attention onto the origins and function of lymphocytes more than 40 years ago. Studies in the 1960s and 1970s demonstrated that B and T lymphocytes were responsible primarily for the basic functions of antibody production and cell-mediated immune responses, respectively. The decades that followed have witnessed a continuum of unfolding complexities in B-cell development, subsets, and function that could not have been predicted. Some of the landmark discoveries that led to our current understanding of B lymphocytes as the source of protective innate and adaptive antibodies are highlighted in this essay. The phenotypic and functional diversity of B lymphocytes, their regulatory roles independent of antibody production, and the molecular events that make this lineage unique are also considered. Finally, perturbations in B-cell development that give rise to certain types of congenital immunodeficiency, leukemia/lymphoma, and autoimmune disease are discussed in the context of normal B-cell development and selection. Despite the significant advances that have been made at the cellular and molecular levels, there is much more to learn, and cross-disciplinary studies in hematology and immunology will continue to pave the way for new discoveries.

Blood Full Text Article

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