Results 61 to 70 of about 645,542 (342)

Emergency Cholecystectomy in Patients Classified as High Risk According to the Tokyo Guidelines 2018: A Real‐World Analysis

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
Emergency cholecystectomy was evaluated in patients with acute cholecystitis classified as non‐recommended for surgery by the Tokyo Guidelines 2018. Major postoperative complications, rather than mortality, better reflected operative risk. Physiological instability, particularly ASA‐PS ≥ 3 and shock status, identified high‐risk patients, suggesting ...
Satoshi Mii   +9 more
wiley   +1 more source

Liesegang rings in the setting of end‐stage renal disease

open access: yesIJU Case Reports, 2022
Introduction Liesegang rings are acellular, lamellar, concentric rings of organic or inorganic material naturally formed in both biologic and environmental systems. Description in human tissue is scarce.
Alexander R Gross   +2 more
doaj   +1 more source

A rare association between crossed fused renal ectopia, urethral stricture, bilateral cryptorchidism, and sub-coronal hypospadias in a non-syndromic 6-year-old child

open access: yesJournal of Pediatric Surgery Case Reports, 2023
Introduction: From asymptomatic ectopic kidneys to potentially fatal renal agenesis, congenital abnormalities of the kidney and urinary tract (CAKUT) encompass a wide variety of anomalies (bilateral).
Oadi N. Shrateh   +5 more
doaj   +1 more source

World's longest surviving liver-pancreas recipient [PDF]

open access: yes, 2007
In July 1988, the liver and pancreas of a cadaveric donor were transplanted separately into a man with type 1 diabetes with end-stage chronic hepatitis B virus.
Alessiani   +20 more
core   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang   +6 more
wiley   +1 more source

CystAnalyser: A new software tool for the automatic detection and quantification of cysts in Polycystic Kidney and Liver Disease, and other cystic disorders.

open access: yesPLoS Computational Biology, 2020
The Polycystic Kidney Disease (PKD) is characterized by progressive renal cyst development and other extrarenal manifestation including Polycystic Liver Disease (PLD).
Adrián Cordido   +3 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Clinical molecular genetics in the UK c.1975-c.2000 [PDF]

open access: yes, 2014
seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core  

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier   +2 more
wiley   +1 more source

Current status and prospects of diagnosis and treatment of genetic kidney diseases in Chinese children [PDF]

open access: yesZhenduanxue lilun yu shijian
Genetic kidney diseases refer to a broad category of renal disorders associated with genetic etiologies. They are the leading cause of end-stage kidney disease in children and adolescents,accounting for over 25% of pediatric patients requiring renal ...
SHEN Qian
doaj   +1 more source

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