Results 101 to 110 of about 67,248 (260)
Would You Figure It Out? Differential Diagnoses: Beyond the Usual [PDF]
The Synageva BioPharma-sponsored symposium discussed the differential diagnoses for liver diseases that may be under-recognised in clinical settings, with a focus on lysosomal acid lipase deficiency (LAL D).
Vlad Ratziu +4 more
doaj
Skeletal Fluorosis Presenting with Diffuse Periostitis and Polyarticular Synovitis
Arthritis &Rheumatology, Accepted Article.
Mitali Sen
wiley +1 more source
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij +11 more
wiley +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Interventional oncology in children: Where are we now?
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel +1 more
wiley +1 more source
Imaging of Abdominal Complications in Children With Acute Lymphoblastic Leukaemia
ABSTRACT Acute lymphoblastic leukaemia (ALL) is the most common paediatric malignancy and remains one of the most common causes of cancer‐related death in children and adolescents. Five‐year overall survival rates now exceed 90% with current multidrug chemotherapeutic regimens. This improvement, coupled with the toxicity of chemotherapy, has led to the
Luke R. Holmes +2 more
wiley +1 more source
Abstract Background and aims Tissue‐retained needles from intravenous drug use can cause rare but severe complications, ranging from local to systemic infections to needle embolization. Due to the limited evidence and the lack of epidemiological studies on the issue, we systematically reviewed the literature focusing on case reports and case series on ...
Heidi Laukkala +7 more
wiley +1 more source
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Disordered Bile Acid Metabolism in Alcohol‐Related Hepatitis
Serum conjugated primary bile acids accumulate in alcohol‐related hepatitis due to downregulation of hepatocyte bile acid transporters. Hepatocyte growth factor is elevated in alcohol‐related hepatitis and downregulates BSEP expression. This detrimentally affects the hepatoprotective adaptive reduction in NTCP/increase in BSEP seen in cholestasis ...
Luke D. Tyson +22 more
wiley +1 more source

