Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan +23 more
wiley +1 more source
Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2211-2223, October 2026.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
Trigeminal neuralgia due to intracranial venous reflux following central venous disease in a patient on hemodialysis: A case report. [PDF]
Surg Neurol Int, 2022 Hanakita S, Endo M, Saito A, Oya S.
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Brain and Behavior, Volume 16, Issue 10, October 2026.ABSTRACT Background Dural arteriovenous fistulas (dAVFs) carry a significant risk of intracranial hemorrhage (ICH), yet most literature has focused on angiographic features as predictors. The influence of modifiable cardiovascular risk factors (CVRFs) such as hypertension, diabetes, smoking, alcohol use, dyslipidemia, obesity, and use of antithrombotic/
Alejandro N. Santos +10 more
wiley +1 more source
Prevalence and predictors of combined >50% iliocaval venous obstruction and superficial venous reflux in chronic venous insufficiency patients with healed or active venous leg ulcer. [PDF]
J Vasc Surg Venous Lymphat Disord, 2023 Chinchalongporn W +10 more
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Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Superior vena cava syndrome is caused by obstruction of the superior vena cava leading to impaired drainage of the head, neck, and upper chest. A hot spot sign is a rare but sensitive radiological finding and is described as a focal area of hyper‐enhancement in Segment IVa (quadrate lobe) of the liver.
Ghazala Shahzad +6 more
wiley +1 more source
Klippel–Trénaunay Syndrome With Pelvic/Rectal and Urinary Bladder Involvement: A Rare Case Report
Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Concurrent bladder and rectosigmoid vascular malformations in Klippel–Trénaunay syndrome can mimic synchronous pelvic malignancy. Multidisciplinary clinical, radiological, endoscopic, and pathological evaluation is essential to avoid misdiagnosis and to guide appropriate, often conservative, management.
Somaya Al Kiswani +6 more
wiley +1 more source
Central Venous Reflux, a Rare Cause of Neurological Manifestations in Hemodialysis Patients: A Case Report and Literature Review. [PDF]
Neurointervention, 2022 Caiza-Zambrano F +11 more
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Clinical Case Reports, Volume 14, Issue 10, October 2026.ABSTRACT Spontaneous development of vesical artery pseudoaneurysm (VA‐PA) as a cause of life‐threatening hematuria is very rare. Most of the existing reports are due to trauma or other types of pelvic surgeries/urological procedures. Incomplete hemostasis in these patients can lead to subsequent complications such as clot retention, severe blood loss ...
Dheeraj Kumar Alias Sailish +6 more
wiley +1 more source
Iliocaval venous obstruction is common in patients with venous ulceration who also have superficial venous reflux: should we stent the iliac outflow, ablate the superficial reflux, or do both and, if so, in what order? [PDF]
J Vasc Surg Venous Lymphat Disord, 2023 Marston WA.
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