Results 81 to 90 of about 114,297 (258)

Hereditary colorectal cancer : assessment of genotype-phenotype correlations and analysis of rare susceptibility genes in familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) [PDF]

, 2008
Each year 3500 people in Switzerland are diagnosed with colorectal cancer. Approximately 20 percent of all affected patients have two or more first or second-degree relatives with colorectal cancer (at-risk family members). About five percent of these
Necker, Judith
core   +1 more source

New Insights Into Pathogenesis, Diagnostics, and Therapeutic Options for Canine Angiostrongylosis

Journal of Veterinary Emergency and Critical Care, EarlyView.
ABSTRACT Objective To provide a comprehensive overview of Angiostrongylus vasorum infection in dogs, with a particular emphasis on recent developments in the understanding of disease pathophysiology and an update on developments in diagnostic and therapeutic options.
Iris Elgueta, Daniel Lewis, Eric R. Morgan, Jenny Helm   +3 more
wiley   +1 more source

TGA/Chemometric Test Is Able to Detect the Presence of a Rare Hemoglobin Variant Hb Bibba

Frontiers in Molecular Biosciences, 2019
In this study the TGA/Chemometric test was applied for diagnosis of a case of congenital hemolytic anemia for which the common first level diagnostic tests were not able to find the erythrocyte congenital defect.
Roberta Risoluti, Patrizia Caprari, Giuseppina Gullifa, Loretta Diana, Matteo Luciani, Antonio Amato, Stefano Materazzi   +6 more
doaj   +1 more source

The Background of Mitochondrial DNA Haplogroup J Increases the Sensitivity of Leber's Hereditary Optic Neuropathy Cells to 2,5-Hexanedione Toxicity [PDF]

, 2009
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease due to mitochondrial DNA (mtDNA) point mutations in complex I subunit genes, whose incomplete penetrance has been attributed to both genetic and environmental factors ...
Achilli Alessandro, GHELLI, ANNA MARIA, Mattioli Stefano, Pala M., Barbieri, Anna, Vidoni S., Torroni Antonio, Carelli Valerio, Anna Barbieri, Vidoni, Sara, Valerio Carelli, Carelli, Valerio, Ghelli, Anna, Mattioli, Stefano, Torroni, Antonio, Iommarini, Luisa, Zanna, Claudia, Pala, Maria, Vidoni Sara, Stefano Mattioli, Antonio Torroni, Achilli A., ZANNA C, Porcelli Anna Maria, Zanna Claudia, Pala Maria, MATTIOLI S, Luisa Iommarini, GHELLI A, Achilli, Alessandro, IOMMARINI L, Rugolo, Michela, Torroni A., Porcelli, Anna Maria, CARELLI V., Ghelli Anna, Rugolo Michela, BARBIERI A, RUGOLO M, PORCELLI AM, Anna Ghelli, Barbieri Anna, Sara Vidoni, Maria Pala, Alessandro Achilli, Anna Maria Porcelli, Michela Rugolo, Claudia Zanna, Iommarini Luisa, VIDONI S   +49 more
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Severe Plasmodium vivax Malaria Complicated by Secondary Hemophagocytic Lymphohistiocytosis, Disseminated Intravascular Coagulation, and Acute Pancreatitis: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Plasmodium vivax (P. vivax) malaria, once regarded as a comparatively benign infection, is increasingly recognized as a cause of severe, potentially life‐threatening multisystem disease. Concurrent secondary hemophagocytic lymphohistiocytosis (HLH), disseminated intravascular coagulation (DIC), and acute pancreatitis complicating P.
Tasnim Nafian, Md. Abul Kalam Azad, Khaled Mahbub Murshed, Kazi Ali Aftab, Rubayet Shahriar, Abdullah Al Faisal   +5 more
wiley   +1 more source

Hereditary Optic Neuropathy (Leber\u27s Hereditary Optic Neuropathy)

, 2022
Hereditary Optic Neuropathy - A hereditary optic neuropathy is caused by a genetic variant (or mutation) that causes dysfunction of the neurons (nerve cells) which form the optic nerve.
NANOS
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Successful Management of Severe Hepatic Acute Graft‐Versus‐Host Disease After Allogeneic Hematopoietic Stem Cell Transplantation in a Child With β‐Thalassemia Major: Clinical Lessons From Early Therapeutic Escalation

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Severe hepatic acute graft‐versus‐host disease can occur early after allogeneic hematopoietic stem cell transplantation without skin involvement, presenting with rapidly progressive cholestatic liver dysfunction. Early recognition and prompt escalation to multimodal immunosuppressive therapy achieve complete biochemical remission and durable ...
Hind Alhiraki, Amal Ali Fares, Maged Kheder   +2 more
wiley   +1 more source

Efficacy and Safety of Co‐Ablation Combined With Aintilimab for Metastatic Melanoma to the Liver (CryoCheck‐001): A Phase II Trial

MedComm, Volume 7, Issue 10, October 2026.
Liver metastasis is a key driver of immune tolerance in patients with melanoma receiving immune checkpoint inhibitor therapy. This single‐arm phase II trial prospectively investigated the efficacy and safety of co‐ablation combined with sintilimab for liver metastatic melanoma.
Lujun Shen, Letao Lin, Shuanggang Chen, Chen Li, Ruizhi Tang, Lin Xie, Yujia Wang, Yunpeng Li, Hongliang Zou, Dandan Li, Xiaoshi Zhang, Weijun Fan   +11 more
wiley   +1 more source

A challenging diagnosis of hereditary microspherocytosis (Minkowski-Chauffard disease) in a child (a case report)

Сучасна педіатрія: Україна
Hereditary microspherocytosis (HM) is an inherited hemolytic anemia associated with erythrocyte membrane abnormalities which should be suspected in patients with a triad of symptoms: anemia, jaundice, and splenomegaly.
L.I. Vakulenko, A.V. Riznyk
doaj   +1 more source

Hepatorenal and Full Blood Count Profiles of Stroke Survivors Compared With Controls: A Case–Control Study

FASEB BioAdvances, Volume 8, Issue 10, October 2026.
In a case–control study of 69 participants (20 stroke survivors, 49 controls; aged 31–78 years) at Tamale Teaching Hospital, Ghana (March–September 2025), venous blood was analyzed for full blood count, liver and renal function. After adjusting for BMI and occupation, stroke survivors showed higher indirect bilirubin (0.143 mmol/L) and MCHC (0.398 g/dL)
Moses Banyeh, Lilian Ayimpoka Atindaana, Felicia Essuman, Alexander Asamoah, Benjamin Kwabena Nyadu, Sinclair Selorm Henyo, Emmanuel Louis Nyaaba, Alfred Dekomwine Bamile, Prosper Bafiil Baneor, Brain Abotsi, Yvonne Aduhene Kwarteng, Prospera Dobara, Tracey Amankwaah, Nketia‐Anim Yeboah, Jennifer Ankamah, Mathias Mbabila Mbah, James Ayamsigiya Akanvae, Abdul‐Wahab Draman, Emmanuel Osei Akoto   +18 more
wiley   +1 more source