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nail patella syndrome

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https://www.readbyqxmd.com/read/28383544/mutation-of-wif1-a-potential-novel-cause-of-a-nail-patella-like-disorder
#1
Marilyn C Jones, Sarah E Topol, Manuel Rueda, Glenn Oliveira, Tierney Phillips, Emily G Spencer, Ali Torkamani
PURPOSE: Nail-Patella syndrome is a dominantly inherited genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. Nail abnormalities are the most constant feature of Nail-Patella syndrome. Pathogenic mutations in a single gene, LMX1B, a mesenchymal determinant of dorsal-ventral patterning, explain approximately 95% of Nail-Patella syndrome cases. However, 5% of cases remain unexplained. METHODS: Here, we present exome sequencing and analysis of four generations of a family with a dominantly inherited Nail-Patella-like disorder (nail dysplasia with some features of Nail-Patella syndrome) who tested negative for LMX1B mutation...
April 6, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28335748/steroid-resistant-nephrotic-syndrome-as-the-initial-presentation-of-nail-patella-syndrome-a-case-of-a-de-novo-lmx1b-mutation
#2
Tomohiro Nakata, Ryo Ishida, Yuu Mihara, Atsuko Fujii, Yoshimoto Inoue, Tetsuro Kusaba, Tsuyoshi Isojima, Yutaka Harita, Chiaki Kanda, Sachiko Kitanaka, Keiichi Tamagaki
BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS. CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis...
March 23, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28328560/surgical-treatment-of-congenital-and-obligatory-dislocation-of-the-patella-in-children
#3
Ronen Sever, Michael Fishkin, Yoram Hemo, Shlomo Wientroub, Moshe Yaniv
BACKGROUND: Congenital (fixed) dislocations and obligatory (habitual) patellar dislocations represent a complex clinical and surgical challenge. Numerous treatment options, offering different perspectives, and surgical solutions are reported in the literature.We implemented the surgical technique principles, originally described by Stanisavljevic, for congenital (fixed) and obligatory (habitual) patellar dislocations, with slight modifications. METHODS: We retrospectively evaluated the results of group of 12 patients (15 knees), operated between the years 2002 and 2013...
March 21, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28059119/dysregulation-of-wti-kts-is-associated-with-the-kidney-specific-effects-of-the-lmx1b-r246q-mutation
#4
Gentzon Hall, Brandon Lane, Megan Chryst-Ladd, Guanghong Wu, Jen-Jar Lin, XueJun Qin, Elizabeth R Hauser, Rasheed Gbadegesin
Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). We have identified two additional NPLRD families with the R246Q mutation, though the mechanisms by which LMX1BR246Q causes a renal-specific phenotype is unknown...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/27450397/spectrum-of-lmx1b-mutations-from-nail-patella-syndrome-to-isolated-nephropathy
#5
Yutaka Harita, Sachiko Kitanaka, Tsuyoshi Isojima, Akira Ashida, Motoshi Hattori
Nail-patella syndrome (NPS) is an autosomal-dominant disease caused by LMX1B mutations and is characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Renal involvement is the major determinant of the prognosis for NPS. Patients often present with varying degrees of proteinuria or hematuria, and can occasionally progress to chronic renal failure. Recent genetic analysis has found that some mutations in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy)...
July 23, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27284321/treatment-of-patellar-instability-in-a-case-of-hereditary-onycho-osteodysplasia-nail-patella-syndrome-with-medial-patellofemoral-ligament-reconstruction-a-case-report
#6
Yubao Gong, Chen Yang, Yang Liu, Jianguo Liu, Xin Qi
Hereditary onycho-osteodysplasia, also known as nail-patella syndrome (NPS), is a rare genetic disorder that is primarily characterized by poorly developed nails and patella. Patients with NPS frequently suffer from patellar instability that requires surgical management. The present case report describes a 25-year-old man with NPS. The patient presented with left knee pain and was found to have recurrent left patellar dislocation. The knee pain was first reported 1-year after a minor knee trauma incident. Following complete evaluation, a diagnosis of NPS was reached...
June 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27247258/nail-patella-syndrome-in-a-young-patient-followed-up-over-10-years-relevance-of-the-sagittal-trochlear-septum-for-patellofemoral-pathology
#7
Christian Konrads, Stephan Reppenhagen, Piet Plumhoff, Maximilian Rudert, Andre Steinert, Thomas Barthel
INTRODUCTION: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B. In most cases knees are symptomatic. Patients have hypoplastic patellae, which are laterally subluxated. In those individuals a sagittal trochlear fibrous septum was found, dividing the anterior knee-joint-space. In the literature the etiology and clinical significance of this anatomic abnormality is unclear...
2016: SICOT-J
https://www.readbyqxmd.com/read/27158442/case-report-congenital-dislocation-of-the-radial-head-a-two-in-one-approach
#8
Raju Karuppal, Anwar Marthya, Rajendran V Raman, Sandhya Somasundaran
BACKGROUND: Congenital dislocation of the radial head of the elbow is rare. It is genetically transmitted in some cases and is often associated with syndromes, such as Nail-Patella syndrome, antecubital pterygium and ulnar dysplasia. About two thirds are posterior, with the remainder being either anterior (15%) or lateral (15%). The natural history of the condition is that symptoms are relatively benign, with only some limitation of motion and deformity. Treatment either involves early attempts at reconstruction or delayed intervention at skeletal maturity with radial head excision...
2014: F1000Research
https://www.readbyqxmd.com/read/27109743/nail-patella-syndrome-report-of-11-pediatric-cases
#9
O Figueroa-Silva, A Vicente, A Agudo, C Baliu-Piqué, S Gómez-Armayones, M J Aldunce-Soto, E J Inarejos Clemente, M Navallas Irujo, D Gutiérrez de la Iglesia, M A González-Enseñat
BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature. OBJECTIVE: Describe the features of 11 patients with NPS in a paediatric hospital...
September 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27037430/radiological-characteristics-of-the-knee-joint-in-nail-patella-syndrome
#10
S Tigchelaar, J de Rooy, G Hannink, S Koëter, A van Kampen, E Bongers
AIM: Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations. PATIENTS AND METHODS: Conventional radiological examination of 95 skeletally mature patients with NPS was performed. Patellar morphology was classified according to the Wiberg classification as modified by Baumgartl and Ficat criteria, and trochlear shape was classified according to the Dejour classification...
April 2016: Bone & Joint Journal
https://www.readbyqxmd.com/read/26960642/type-iii-collagen-disorders-a-case-report-and-review-of-literature
#11
REVIEW
A Anitha, Mahesha Vankalakunti, Vishwanath Siddini, Kishore Babu, Ravishankar Bonu, Sudarshan Ballal
Collagen type III is a normal component of interstitium and blood vessels. Collagenofibrotic glomerulopathy (CG) and nail patella syndrome (NPS) are the diseases of abnormal type III collagen deposition. In spite of these curved frayed structures with a periodicity of 45-60 nm are deposited in subendothelium and mesangium in CG, they are found only in the basement membrane in NPS. The clinical features of CG are confined to the kidney, NPS has associated extra-renal manifestations. Electron microscopy is essential to make the renal diagnosis in both these rare diseases...
January 2016: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/26872454/management-of-patellar-problems-in-skeletally-mature-patients-with-nail-patella-syndrome
#12
Lucie Louboutin, Daniel Wascher, Philippe Neyret
PURPOSE: Nail-patella syndrome (NPS) or hereditary onychoosteodysplasia is a rare autosomal dominant disease, characterized by a tetrad of findings, which include fingernail abnormalities, hypoplasia of the patellae, radial head dislocation and prominent iliac horns. Most of the literature on the treatment of patellar problems in NPS concerns paediatric patients, and there is no standard treatment algorithm for adult patients. METHODS: We reviewed the charts of skeletally mature patients with NPS who presented to our clinic...
February 12, 2016: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/26810100/50-years-ago-in-the-journal-of-pediatrics-the-nail-patella-syndrome-clinical-and-genetic-aspects-of-5-kindreds-with-38-affected-family-members
#13
Sharon P Andreoli
No abstract text is available yet for this article.
February 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/26775773/the-spectrum-of-nephrocutaneous-diseases-and-associations-genetic-causes-of-nephrocutaneous-disease
#14
REVIEW
Jay Wofford, Andrew Z Fenves, J Mark Jackson, Alexa B Kimball, Alan Menter
There are a significant number of diseases and treatment considerations of considerable importance relating to the skin and renal systems. This emphasizes the need for dermatologists in practice or in clinical training to be aware of these associations. Part I of this 2-part continuing medical education article reviews the genetic syndromes with both renal and cutaneous involvement that are most important for the dermatologist to be able to identify, manage, and appropriately refer to nephrology colleagues...
February 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/26596417/nail-patella-syndrome-knee-symptoms-and-surgical-outcomes-a-questionnaire-based-survey
#15
S Tigchelaar, A Lenting, E M H F Bongers, A van Kampen
BACKGROUND: Patellofemoral instability and dysfunction are frequent symptoms in Nail patella syndrome (NPS). In this article, the first large series of NPS patients is presented in which these knee symptoms were assessed using validated outcome scores. Additionally, the need for surgical interventions, percentage of patients who received surgical treatment and patient reported outcomes are reported. METHODS: A questionnaire based survey was conducted in 139 Dutch NPS patients...
December 2015: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/26560070/clinical-and-histological-findings-of-autosomal-dominant-renal-limited-disease-with-lmx1b-mutation
#16
Takao Konomoto, Hideaki Imamura, Mayuko Orita, Etsuko Tanaka, Hiroshi Moritake, Yuji Sato, Shouichi Fujimoto, Yutaka Harita, Satoshi Hisano, Koh-Ichiro Yoshiura, Hiroyuki Nunoi
AIM: Mutations of LMX1B cause nail-patella syndrome, a rare autosomal dominant disorder. Recently, LMX1B R246Q heterozygous mutations were recognised in nephropathy without extrarenal manifestation. The aim of this study was to clarify characteristics of nephropathy caused by R246Q mutation. METHODS: Whole exome sequencing was performed on a large family with nonsyndromic autosomal dominant nephropathy without extrarenal manifestation. Clinical and histological findings of patients with LMX1B mutation were investigated...
September 2016: Nephrology
https://www.readbyqxmd.com/read/26413279/collagenofibrotic-glomerulopathy
#17
Anila Abraham Kurien, Christopher P Larsen, L Nicholas Cossey
BACKGROUND: Collagenofibrotic glomerulopathy is a rare renal disease of unknown etiology that is secondary to deposition of type III collagen within the glomerulus. Only rare case series exist in the literature. METHODS: Renal biopsies diagnosed with collagenofibrotic glomerulopathy were prospectively collected at the Center for Renal and Urological Pathology (AAK) (Chennai, Tamil Nadu, India) from 2012 to 2015. Eight patients were entered into the study. The average age was 38 years with five males and three females...
October 2015: Clinical Kidney Journal
https://www.readbyqxmd.com/read/26130880/radiographic-findings-in-the-nail-patella-syndrome
#18
James A West, Thomas H Louis
Nail-patella syndrome is a rare disorder characterized classically by the tetrad of nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns. Iliac horns are considered pathognomonic, and the presence of hypoplastic or aplastic patellae in conjunction with nail abnormalities is a cardinal feature of diagnosis. Elbow dysplasia is present in most cases and can exhibit features typical of the syndrome. Herein we present the radiographic findings of the elbows, knees, and pelvis of a woman with nail-patella syndrome...
July 2015: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/26064490/nail-patella-syndrome-a-novel-mutation-in-the-lmx1b-gene
#19
Rajesh R Nair, Vavullipathy N Unni, Kadevalappil N Indu, Sheela Nampoothiri, Anil Mathew, George Kurian, Avadaiammal Vimala
Nail-patella syndrome (NPS) is an autosomal-dominant pleiotropic disorder characterized by dyplasia of finger nails, skeletal anomalies and frequently renal disease. In the reported case, genetic analysis revealed a new missense mutation in the homeodomain of LMX1B, presumed to abolish DNA binding (c.725T>C, p.Val242Ala). A missense mutation at codon 725 was identified, where thymine was replaced by cytosine which led to the replacement of valine by alanine at position 242. It was not detected in both parents...
June 2013: Clinical Kidney Journal
https://www.readbyqxmd.com/read/26025008/nail-patella-syndrome-a-report-of-a-saudi-arab-family-with-an-autosomal-recessive-inheritance
#20
Najla Al-Dawsari, Ahmed Al-Mokhadam, Hind Al-Abdulwahed, Nouriya Al-Sannaa
BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder with a variable interfamilial and intrafamilial clinical expressivity and penetrance. It is caused by loss-of-function heterozygous mutation in the LIM-homeodomain transcription factor (LMX1B) located on chromosome 9q. The pleiotropic LMB1X gene, a member of the homeogene family, is involved in the development of glomerular basement membrane, dorsoventral limb structures, along with the nails and the anterior segment of the eye...
November 2015: Journal of Cutaneous Medicine and Surgery
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