Results 121 to 130 of about 60,964 (282)

Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases

Folia Histochemica et Cytobiologica, 2011
The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy.
Anna Dmoszyńska, Tomasz Gromek, Anna Tylki-Szymańska, Waldemar Tomczak, Barbara Czartoryska, Danuta Skomra, Bożena Sokołowska   +6 more
doaj   +1 more source

A Comparative Study of Ultrasonography and CT Venography in the Diagnosis of Budd‐Chiari Syndrome

Journal of Clinical Ultrasound, Volume 54, Issue 4, Page 904-914, May 2026.
Budd‐Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction from the hepatic veins to the junction of the inferior vena cava (IVC) and right atrium. Ultrasound (US) and CT venography (CTV) are used as imaging techniques for the diagnosis of BCS, and We compared the diagnostic efficacy of the two modalities. The results showed that
Tiling Jiang, Mingyue Qu, Qian Zhang, Donghua Shen, Yan Liu, Baoshi Guo, Gong Wang   +6 more
wiley   +1 more source

Declining Visceral Leishmaniasis in Malta [PDF]

, 2008
Aims: To study visceral leishmaniasis (VL) trends in Malta. Methods: Analysis of epidemiological and clinical trends, a veterinary questionnaire and questioning a canine laboratory testing facility.
Grech, Victor E., Vella, Cecil
core  

Subgaleal Haematoma—A Rare Cause of Head Swelling in a School‐Aged Girl

Journal of Paediatrics and Child Health, EarlyView.
Patrick J. B. Walker, Jim J. Goutzamanis
wiley   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

Virchow-Robin spaces : an anatomic variant or a pathologic sign? [PDF]

, 2009
Virchow-Robin spaces surround blood vessels. Their walls are formed by prolongations of the pia mater and they have no communication with the subarachnoid space. VRS are often seen as well-delineated foci of cerebrospinal fluid signal on MR images.

core  

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Melissa P. Wasserstein, Carla E. Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Beth L. Thurberg, Jesus Villarrubia, Nicole M. Armstrong, Shashi Bhushan, Yong Kim, Monica Kumar   +20 more
wiley   +1 more source

MPIG6B Gene-Related Myelofibrosis: A Rare Inherited Disease That Is Frequently Described in Arab Population

Avicenna Journal of Medicine
The megakaryocyte and platelet inhibitory receptor gene G6P (MPIG6B) is located on chromosome 6p21.33. It encodes G6b-B; an inhibitory receptor expressed on the surface of platelets. It regulates platelets production, aggregation, and activation.
Leen Jihad Attar, Almothana Alelaimat, Alaa Alshorman, Tariq N. Aladily   +3 more
doaj   +1 more source

Diagnostic dilemma of cystic biliary atresia: A series of two cases and brief review of the diagnostic modalities

JPGN Reports, Volume 7, Issue 2, Page 355-361, May 2026.
Abstract Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose.
Hamza Hassan Khan, Leslie Hirsig Spence, Nagraj Kasi   +2 more
wiley   +1 more source

Extreme Peripheral Blood Plasmacytosis Mimicking Plasma Cell Leukemia as a Presenting Feature of Angioimmunoblastic T-Cell Lymphoma (AITL). [PDF]

, 2019
Angioimmunoblastic T-cell lymphoma (AITL) is one of four major subtypes of nodal peripheral T cell lymphoma, characterized by its cell of origin, the follicular helper T-cell (TFH).
Alpdogan, Onder, Gong, Jerald Z., Haverkos, Bradley M., Johnson, William T., Kartan, Saritha, Nikbakht, Neda, Porcu, Pierluigi, Sokol, Kelsey   +7 more
core   +1 more source