Results 61 to 70 of about 29,990 (207)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato   +2 more
wiley   +1 more source

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

open access: yesActa Medica Lituanica, 2021
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė   +4 more
doaj   +1 more source

Hypertension in autosomal dominant polycystic kidney disease: a meta-analysis [PDF]

open access: yes, 2016
CONTEXT: Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder that can cause hypertension during childhood, but the true prevalence of hypertension during childhood is not known.
Cuthell, O   +5 more
core   +1 more source

Combined Liver and Kidney Transplant in a Patient with Budd-Chiari Syndrome Secondary to Autosomal Dominant Polycystic Kidney Disease Associated with Polycystic Liver Disease: Report of a Case with a 9-Year Follow-Up

open access: yesCase Reports in Gastrointestinal Medicine, 2014
Polycystic liver disease (PLD) is a hereditary disease inherited by autosomal dominant trait that occurs as a frequent extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD).
Patricia Ramírez de la Piscina   +11 more
doaj   +1 more source

Assessing the Impact of Imaging Parameters on MRI Measurement of Kidney T2

open access: yesJournal of Magnetic Resonance Imaging, Volume 63, Issue 2, Page 508-522, February 2026.
ABSTRACT Background T2‐mapping has promise to evaluate kidney pathophysiology. Prior studies show a large variance in kidney T2, likely due to the differing acquisition sequences. Purpose To compare four T2‐mapping sequences to investigate kidney T2. Study Type Phantom and prospective in vivo assessments.
Alexander J. Daniel, Susan T. Francis
wiley   +1 more source

An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis

open access: yesCase Reports in Medicine, 2012
Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic ...
Fatih Firinci   +4 more
doaj   +1 more source

Fetal polycystic kidney disease: Pathological overview

open access: yesJournal of the Scientific Society, 2013
Polycystic kidney disease is a rare developmental anomaly inherited as autosomal dominant or autosomal recessive. It is characterized by cystic dilatation of the collecting ducts frequently associated with hepatic involvement and progression to renal ...
Sunita B Patil   +3 more
doaj   +1 more source

Chronic brucellosis with hepatic brucelloma and AA amyloidosis in a patient with autosomal dominant polycystic kidney disease

open access: yesAutopsy and Case Reports, 2020
We describe an autopsy case of a 45-year-old male diagnosed with autosomal dominant polycystic kidney disease who presented with complaints of altered sensorium.
Arpitha Kollabathula   +6 more
doaj   +1 more source

Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease. [PDF]

open access: yes, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 ...
Bourgeois, Bryan C   +4 more
core   +1 more source

Advantage of Sleeve Right Lower Lobectomy for Lung Cancer in COPD Patients: A Case Series

open access: yesThoracic Cancer, Volume 17, Issue 3, February 2026.
Sleeve right lower lobectomy (SRLL) may preserve postoperative pulmonary function better than standard procedures in selected lung cancer patients with COPD. This approach could be a useful surgical option when both oncologic safety and lung function preservation are prioritized. ABSTRACT Sleeve right lower lobectomy (SRLL) is an uncommon procedure for
Yuzu Harata   +7 more
wiley   +1 more source

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