Results 141 to 150 of about 138,072 (341)

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

open access: yesJPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher   +2 more
wiley   +1 more source

The coincidence of beta‐thalassemia and hereditary spherocytosis: A case report and literature review

open access: yesClinical Case Reports
Key Clinical Message When a person has both HS and beta‐thalassemia, their clinical symptoms tend to be less severe. This is because these two conditions have contrasting features.
Sana Habibzadeh   +4 more
doaj   +1 more source

Myelofibrosis and allogeneic transplantation: critical points and challenges

open access: yesFrontiers in Oncology
New available drugs allow better control of systemic symptoms associated with myelofibrosis (MF) and splenomegaly but they do not modify the natural history of progressive and poor prognosis disease.
Paola Ranalli   +8 more
doaj   +1 more source

Successful propranolol therapy for infantile hepatic hemangioma with cardiac failure

open access: yesJPGN Reports, EarlyView.
Abstract Infantile hepatic hemangioma (IHH) can cause severe complications such as high‐output cardiac failure and growth faltering, requiring prompt diagnosis and intervention. In the absence of standardized treatment guidelines, propranolol has emerged as an effective and well‐tolerated therapy.
Fadhel Al Ateeqi   +4 more
wiley   +1 more source

Successfully performed video capsule endoscopy in an 8‐month‐old infant weighing 7.5 kg

open access: yesJPGN Reports, EarlyView.
Abstract Video capsule endoscopy (VCE) is a well‐established diagnostic tool for examining the small bowel. Limited data exist on its use in infants. To our knowledge, we present the first detailed case of a successful PillCam®SB3‐VCE performed in an 8‐month‐old infant weighing 7.5 kg with suspected small bowel bleeding following allogeneic ...
Paul‐Christoph Zeisler   +3 more
wiley   +1 more source

Chronic Splenomegaly [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1937
G, Slot, G S, Caithness
openaire   +2 more sources

A higher JAK2V617F allele burden may be a risk factor for hemorrhagic events in younger patients with polycythemia vera

open access: yesHematology
Objectives: Hemorrhagic events are a rare but potentially fatal complication in patients with polycythemia vera (PV).Methods: We analyzed the characteristics of hemorrhagic events in 267 patients with PV.Results: A median follow-up of 4.8 years revealed ...
Chiho Furuya   +10 more
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
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

Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)

open access: yesUltrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau   +6 more
wiley   +1 more source

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