Results 61 to 70 of about 1,289,318 (184)

A Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement. [PDF]

Skin Appendage Disord, 2019
Nail diseases are rarely given significant importance in general consultation and their specific examination is often neglected, while localization to the nails could be an initial sign of a syndrome or a systemic disorder.
Starace M, Di Altobrando A, Alessandrini A, Piraccini BM.   +3 more
europepmc   +2 more sources

The development and validation of a new diagnostic sonographic enthesitis score for psoriatic arthritis: Diagnostic Ultrasound Enthesitis Tool (DUET)

Arthritis &Rheumatology, Accepted Article.
Objective The Diagnostic Ultrasound Enthesitis Tool (DUET) study aimed to develop and validate a new sonographic scoring system for enthesitis to aid PsA diagnosis. Methods We prospectively enrolled patients with early PsA, psoriasis without arthritis (PsO), and non‐inflammatory musculoskeletal symptoms as controls (CTL) from 17 centers. A standardized
Lihi Eder, Andre L. Ribeiro, Ricardo Acayaba de Toledo, Catherine Bakewell, Philippe Carron, Basant Elnady, Amir Haddad, Arthur Kavanaugh, Arnon Katz, Minna J. Kohler, Josefina Marin, Fahmeen Afgani, Nikolas Malliotis, Nam Nguyen, Adrien Nzeusseu, Ari Polachek, Ernesto Rodriguez, Marcos Rosemffet, Abha Singh, Maria S. Stoenoiu, Agnes Szentpetery, Ilaria Tinazzi, Janeth Yinh, Mu Yang, Dennis McGonagle, Richard Cook, Gurjit S. Kaeley, Sibel Z. Aydin   +27 more
wiley   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Consecutive successful pregnancies of a patient with nail-patella syndrome

, 2018
Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms).
TANAÇAN, ATAKAN, ÜNAL, CANAN, FADILOĞLU, ERDEM, ÖRGÜL, GÖKÇEN, Beksac, M. S.   +4 more
core   +1 more source

Nail Patella Syndrome.

Indian journal of dermatology, venereology and leprology, 2017
A 14-year-old male having nail-patella syndrome, manifested as deficient nails on the ubw aspect of thumbs, V-shaped half- moons, rudimentry patella on right side and absence on left side. X-ray of pelvis showed iliac horns.. Family history was suggestive of autosomal dominant of inheritance.
V K, Jain, U S, Pahwa, Anil, Dashore
openaire   +3 more sources

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

BMC Nephrology, 2020
Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail ...
Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann   +7 more
doaj   +1 more source

Novel Compound Heterozygous RECQL4 Pathogenic Variants and Associated Phenotypes in a Chinese Patient With Rothmund‐Thomson Syndrome: Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A Chinese patient with Rothmund‐Thomson syndrome type 2 carried compound heterozygous RECQL4 variants, including a novel frameshift variant c.2053del (p.Asp685Thrfs*5). The patient also presented with gynecomastia and low testosterone, a previously unreported endocrine phenotype.
Yuanyuan Wang, Lulu Li, Chunjiao Zheng, Min Li, Qian Yu   +4 more
wiley   +1 more source

Reversible High‐Degree Atrioventricular Block Associated With Magnesium Toxicity in Severe Pre‐Eclampsia

Annals of Noninvasive Electrocardiology, Volume 31, Issue 5, September 2026.
Standard‐dose magnesium sulfate may cause life‐threatening hypermagnesemia and reversible hig ‐degree atrioventricular block in pregnant women with acute kidney injury. Prompt recognition, discontinuation of magnesium sulfate, and intravenous calcium gluconate can rapidly restore cardiac conduction and improve maternal and neonatal outcomes.
Alex F. Lwiza, Edward Thomas, Nasra Batchu, Lilian G. Mmbaga, Simon C. Peter, Abid M. Sadiq   +5 more
wiley   +1 more source

Brown tumor diagnosed three years after parathyroidectomy in a patient with nail-patella syndrome: A case report

Bone Reports, 2019
We report a 48-year-old Japanese man with a brown tumor of the right distal tibia. At the age of 25 years, hemodialysis was initiated due to nail-patella syndrome.
Naoya Toriu, Toshiharu Ueno, Hiroki Mizuno, Akinari Sekine, Noriko Hayami, Rikako Hiramatsu, Keiichi Sumida, Masayuki Yamanouchi, Eiko Hasegawa, Tatsuya Suwabe, Junichi Hoshino, Naoki Sawa, Kenmei Takaichi, Takeshi Fujii, Tomoka Hasegawa, Norio Amizuka, Motoko Yanagita, Yoshifumi Ubara   +17 more
doaj   +1 more source

Muscle Changes in Critically Ill Children Following an Early Progressive Exercise in the Paediatric Intensive Care Unit: A Pre‐ and Post‐Intervention Study

Nursing in Critical Care, Volume 31, Issue 3, May 2026.
ABSTRACT Background Most critically ill children in the paediatric intensive care unit (PICU) are immobilised. Prolonged immobilisation in the PICU negatively affects children's physical health outcomes. Aim The aim of the study was to evaluate the effectiveness of an early progressive exercise (EPE) intervention to improve the PICU‐acquired muscle ...
Shaodan Qi, Yuxia Yang, Jing Hu, Weijie Shen, Hao Zhou, Jos M. Latour, Weiming Chen, Ying Gu   +7 more
wiley   +1 more source