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nail patella syndrome

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https://www.readbyqxmd.com/read/29322497/genetics-of-patella-hypoplasia-agenesis
#1
REVIEW
C Vanlerberghe, N Boutry, F Petit
The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patello-femoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-Patella syndrome, Small Patella syndrome), as a clue feature which can help diagnosis assessment, or as a background feature that may be disregarded. Even in the latter, the identification of patella anomalies is important for an appropriate patient management...
January 11, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29290531/a-familial-case-of-nail-patella-syndrome-with-a-heterozygous-in-frame-indel-mutation-in-the-lim-domain-of-lmx1b
#2
Miho Mukai, Harumi Fujita, Noriko Umegaki-Arao, Takashi Sasaki, Fumiyo Yasuda-Sekiguchi, Tsuyoshi Isojima, Sachiko Kitanaka, Masayuki Amagai, Akiharu Kubo
Nail patella syndrome is a autosomal dominant disorder caused by a genetic alteration in LMX1B. We identified a novel heterozygous in-frame indel mutation of LMX1B in a family of Nail patella syndrome. Impaired transcriptional activity but not dominant negative effect of mutant LMX1B were revealed using a transcriptional reporter assay, indicating that the mutation caused nail patella syndrome in this family via haploinsufficiency of the transcriptional activity of LMX1B.
December 19, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/29246420/lmx1b-associated-nephropathy-with-type-iii-collagen%C3%A2-deposition-in-the-glomerular-and-tubular-basement%C3%A2-membranes
#3
Nicole K Andeen, Jennifer Schleit, Christopher D Blosser, Michael O Dorschner, Fuki Marie Hisama, Kelly D Smith
Variants in the LMX1B gene cause nail-patella syndrome, a rare autosomal dominant disorder characterized by dysplasia of nails, patella and elbow abnormalities, iliac "horns," and glaucoma. We describe an adult man with nephrotic syndrome and no systemic manifestations of nail-patella syndrome at the time of his initial kidney biopsy. His kidney biopsy was initially interpreted as a form of segmental sclerosis with unusual fibrillar deposits. At the time of consideration for kidney transplantation, a family history was notable for end-stage renal disease in 3 generations...
December 12, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29089684/prenatal-diagnosis-of-nail-patella-syndrome-a-case-report
#4
L D Padmanabhan, D Yesodharan, S Nampoothiri
The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS.
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29056081/the-risks-and-benefits-of-cannabis-in-the-dermatology-clinic
#5
Gurbir Dhadwal, Mark G Kirchhof
Cannabis ( Cannabis sativa/indica), also known as marijuana, has been used for medicinal and recreational purposes for millennia. There has been a recent trend to legalize the use of cannabis, as illustrated by the recent legalization votes in numerous states in the United States and legislation in Canada to allow recreational cannabis use. With this increasing consumption of cannabis, dermatologists will see increased pressure to prescribe cannabis and will see the side effects of cannabis use with greater frequency...
October 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28941488/ajkd-atlas-of-renal-pathology-nail-patella-syndrome-associated-nephropathy
#6
Behzad Najafian, Kelly Smith, Mark A Lusco, Charles E Alpers, Agnes B Fogo
No abstract text is available yet for this article.
October 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28681095/nail-patella-syndrome
#7
REVIEW
Ralph Witzgall
The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. Many of the patients suffer from renal symptoms which also affect their prognosis. In 1998, mutations in the gene encoding the transcription factor LMX1B were identified as underlying this autosomal-dominant disease. The LMX1B gene is expressed in a variety of tissues, and the symptoms are reflected nicely by its expression pattern. LMX1B is essential for dorso-ventral pattern formation in the limbs, for differentiation of the anterior portions of the eyes, for development of certain neuron populations in the central nervous system, and for the differentiation and maintenance of podocytes...
August 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28538898/do-you-know-this-syndrome-nail-patela-syndrome-a-pathognomonic-dermatologic-finding
#8
Bruna Giusto Bunjes, Marcelle da Costa Frickmann Fernandes
The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic. A pathognomonic finding is the presence of the triangular lunula. The diagnosis of nail-patella syndrome is based on clinical findings. In this paper we will discuss a case report of this syndrome and its relation with a dermatological finding.
March 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28383544/mutation-of-wif1-a-potential-novel-cause-of-a-nail-patella-like-disorder
#9
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...
October 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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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