Results 71 to 80 of about 60,964 (282)

Congenital Thrombocytosis, Hepatosplenomegaly, and Rash in a Term Neonate

American Journal of Perinatology Reports
Objective Transient abnormal myelopoiesis (TAM) is a self-limited clonal myeloproliferative disorder seen almost exclusively in neonates with trisomy 21 and defined by circulating myeloblasts carrying N-terminal truncating GATA1 mutations.
Michal Mia Shalamov, Akshara Vadyala, Nirzar Parikh, Jessica Scerbo, Estephanie Rivero   +4 more
doaj   +1 more source

Adult-onset Still's disease: Evaluation of prognostic tools and validation of the systemic score by analysis of 100 cases from three centers [PDF]

, 2016
Background: Adult-onset Still's disease (AOSD) is rare inflammatory disease of unknown etiology that usually affects young adults. The more common clinical manifestations are spiking fevers, arthritis, evanescent rash, elevated liver enzymes ...
Berardicurti O., Carubbi F., Ciccia F., Cipriani P., Di Benedetto P., Giacomelli R., Guggino G., Iacono D., Liakouli V., Masedu F., Ruscitti P., Triolo G., Valenti M., Valentini G.   +13 more
core   +1 more source

Hodgkin lymphoma of the ampulla of Vater: A rare cause of obstructive jaundice in children

JPGN Reports, EarlyView.
Abstract Hodgkin lymphoma (HL) has a wide spectrum of presentation. Most cases affect lymph nodes (nodal), while extranodal involvement is rare. Whereas the gastrointestinal tract is enriched with lymphoid tissues, the ampulla of Vater is not rich in lymphoid tissue. Involvement of the ampulla of Vater with HL has rarely been reported in adults and has
Sultana Alshammari, Homoud Alhebbi, Awad Al Qahtani, Sarah Algubaisi, Faisal Alhaffaf, Abdulrahman Al Robayan, Mohammed Almutairi, Saeed Alshieban, Mohammad Alshahrani, Tarek Khaled Alfawzan, Khalid Alkhamis, Ibrahim Al Hasan, Sami Wali   +12 more
wiley   +1 more source

Putative Novel Genotype of Avian Hepatitis E Virus, Hungary, 2010

Emerging Infectious Diseases, 2012
To explore the genetic diversity of avian hepatitis E virus strains, we characterized the near-complete genome of a strain detected in 2010 in Hungary, uncovering moderate genome sequence similarity with reference strains.
Krisztián Bányai, Ádám György Tóth, Éva Ivanics, Róbert Glávits, Katalin Szentpáli-Gavallér, Ádám Dán   +5 more
doaj   +1 more source

POEMS syndrome: A rare cause of ascites and pelvic effusion

Clinical Case Reports, 2022
POEMS syndrome is a rare clonal plasma cell disease associated with multisystem involvement. We reported a case of 48‐year‐old woman with large volume of exudative ascites with an increased level of λ‐light chain and hepatosplenomegaly.
Jing Ma, Yi Chen, Xiaojin Qin, Xiaogang Liu, Ercui Li, Huijuan Fan, Yandong Xie, Xin Wang   +7 more
doaj   +1 more source

Macrophage Activation Syndrome as Onset of Systemic Lupus Erythematosus: A Case Report and a Review of the Literature [PDF]

, 2015
Macrophage activation syndrome (MAS) is a potentially fatal condition. It is a rare complication of several autoimmune disorders, including systemic lupus erythematosus (SLE) and systemic juvenile idiopathic arthritis (sJIA).
Didona, Dario, Feola, Aldo, Granata, Guido, Granata, Massimo, Stifano, Giuseppina   +4 more
core   +4 more sources

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

TYPE 2 GAUCHER DISEASE: ONSET AND EVOLUTION – CASE REPORT [PDF]

Romanian Journal of Pediatrics, 2015
Gaucher disease is the most common lysosomal storage disorder, with autosomal recessive transmission. The disease is due to glucocerebrosidase enzyme defi ciency, resulting in accumulation of glucocerebroside in all organs. The diagnosis is established
Violeta Streanga, Cristina Jitareanu, Irina M. Ciomaga, Doina Mihaila, Nicolai Nistor   +4 more
doaj   +1 more source

Features of the immunoreactivity T and B lymphocytes subpopulations and cytokine imbalance in patients with hepatosplenomegaly of different etiology

Patologìâ, 2021
The aim was to study the mechanisms of immunological dysregulation of cytokine and immunoglobulin production, changes in the CD expression of T and B lymphocyte subpopulations in patients with hepatosplenomegaly of different etiology.
O. M. Klimova, T. I. Kordon, S. V. Sushkov, L. A. Drozdova, O. V. Lavinska, O. S. Merezhko, K. O. Bychenko   +6 more
doaj   +1 more source

Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly.

Journal of Pediatric Gastroenterology and Nutrition - JPGN, 2001
Mucopolysaccharidosis type VII (Sly syndrome), a rare lysosomal storage disorder caused by deficiency of the enzyme -glucuronidase, was first reported in 1973 in a two year old boy with hepatosplenomegaly, skeletal abnormalities and moderate mental ...
P. Gillett, R. Schreiber, G. Jevon, D. Israel, T. Warshawski, H. Vallance, L. Clarke   +6 more
semanticscholar   +1 more source