Results 61 to 70 of about 37,879 (224)

CHAPLE‐Like Enteropathy and Renal Microangiopathy in an Adult Patient With CD46 Deficiency

Journal of Clinical Laboratory Analysis, EarlyView.
We report an adult patient with a homozygous CD46 variant presenting with lifelong protein‐losing enteropathy, intestinal lymphangiectasia, and CVID‐like hypogammaglobulinemia mimicking CHAPLE syndrome. Concurrent renal biopsy revealed PLA2R‐negative membranous nephropathy with chronic thrombotic microangiopathy, establishing multi‐organ complement ...
Bircan Erden, Pelin Korkmaz, Halil Yazici, Ahmet Burak Dirim, Fatih Beşışık, Nevzat Kahveci, Zeynep Kilinc, Derya Unal, Osman Ozan Yegit, Tuğba Kalaycı, Özge Hürdoğan, Yasemin Özlük, Melek Büyük, Asli Gelincik, Semra Demir   +14 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

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

Myeloid sarcoma presenting as an isolated pancreatic mass in a 3‐year‐old child

JPGN Reports, EarlyView.
Abstract Myeloid sarcoma (MS) is an extramedullary tumor of myeloid precursor cells, frequently associated with acute myeloid leukemia (AML), and rarely occurring in isolation. We present a child with obstructive jaundice secondary to a pancreatic head mass.
Jappmann Kaur Monga, Cara L. Mack, Michelle Saad, Dylan Applin, Maisam Abu‐El‐Haija, David Vitale, Zachary Graff, Gila Ginzburg   +7 more
wiley   +1 more source

Plummer–Vinson syndrome in a 10‐year‐old boy from Côte d'Ivoire: An exceptional paediatric case with African context

JPGN Reports, EarlyView.
Abstract Plummer–Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron‐deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub‐Saharan Africa.
Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara   +2 more
wiley   +1 more source

Ultrasound findings associated with neonatal acute liver failure secondary to gestational alloimmune liver disease: A case series

JPGN Reports, EarlyView.
Abstract Objectives Gestational alloimmune liver disease is the leading cause of neonatal acute liver failure, hypothesized to emerge from maternal exposure to an antigen that is expressed on fetal hepatocytes, resulting in maternal‐fetal alloimmune attack and activation of the complement cascade.
Naseem Ravanbakhsh, Ashley M. Upton, Chun‐Sing Huang, Nhu Thao N. Galván, John Goss, Sanjiv Harpavat, Jose A. Hernandez   +6 more
wiley   +1 more source

Two Leptospirosis Cases Presented with Fever, Anemia, and Hepatosplenomegaly

, 2017
Leptospirosis affects humans in both urban and rural areas, and in temperate and tropical climates. The spectrum of human disease caused by leptospires is extremely wide, ranging from subclinical infection to a severe syndrome of multiorgan infection ...
Polat, Erdal, Aydin, Seniz Ongoren, Sebati Özdemir, Ozdemir, Sebati, Ahmet Aydın, Şeniz Öngören Aydın, Aydin, Ahmet, Erdal Polat   +7 more
core   +1 more source

Extensive pelvic and abdominal lymphadenopathy with hepatosplenomegaly treated with radiotherapy—A case report

Journal of Family Medicine and Primary Care, 2020
This is a case report of a 65-year-old female patient diagnosed with Grade II Follicular Lymphoma of the pelvic and abdomen was treated with a combination of R-CHOP chemotherapy and radiotherapy.
Sahil Mittal, Shaikh A Hussain, Rahul V. C Tiwari, Ajith B Poovathingal, B Padma Priya, Rishabh Bhanot, Heena Tiwari   +6 more
doaj   +1 more source

Myeloid Sarcoma Presenting as Nasal and Orbital Mass: An Initial Manifestation of an Acute Myeloid Leukaemia [PDF]

Journal of Clinical and Diagnostic Research, 2017
Myeloid sarcoma is an extramedullary manifestation of Acute Myeloid Leukaemia and sometimes is the only indicator of the disease. The incidence varies between 3-9.1% of acute leukaemia cases.
Amita Jain Gupta, Shramana Mandal, Richa Gupta, Nita Khurana, Achal Gulati   +4 more
doaj   +1 more source

Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1

American Journal of Medical Genetics Part A, EarlyView.
Erika R. Vucko, Allegra Quadri, Rachel E. Hickey, Carly A. Rasmussen, Monika Izdebski, Joel Charrow, Carlos E. Prada   +6 more
wiley   +1 more source