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[PMID]: 29322497
[Au] Autor:Vanlerberghe C; Boutry N; Petit F
[Ad] Address:Univ. Lille, Lille, France.
[Ti] Title:Genetics of patella hypoplasia/agenesis.
[So] Source:Clin Genet;, 2018 Jan 11.
[Is] ISSN:1399-0004
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract: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. We review the clinical characteristics of these rare diseases, provide guidance to facilitate the diagnosis and discuss how the genes involved could affect patella development.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180111
[Lr] Last revision date:180111
[St] Status:Publisher
[do] DOI:10.1111/cge.13209

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[PMID]: 29246420
[Au] Autor:Andeen NK; Schleit J; Blosser CD; Dorschner MO; Hisama FM; Smith KD
[Ad] Address:Department of Pathology, University of Washington, Seattle, WA.
[Ti] Title:LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.
[So] Source:Am J Kidney Dis;, 2017 Dec 12.
[Is] ISSN:1523-6838
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. Subsequent reanalysis of the initial biopsy showed infiltration of the lamina densa by type III collagen fibrils, and molecular studies identified a pathogenic variant in one allele of LMX1B (a guanine to adenine substitution at nucleoide 737 of the coding sequence [c.737G>A], predicted to result in an arginine to glutamine substitution at amino acid 246 [p.Arg246Gln]). This variant has been described previously in multiple unrelated families who presented with autosomal dominant nephropathy without nail and patellar abnormalities.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171216
[Lr] Last revision date:171216
[St] Status:Publisher

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[PMID]: 29056081
[Au] Autor:Dhadwal G; Kirchhof MG
[Ad] Address:1 Department of Dermatology and Skin Science, University of British Columbia, Vancouver, BC, Canada.
[Ti] Title:The Risks and Benefits of Cannabis in the Dermatology Clinic.
[So] Source:J Cutan Med Surg;:1203475417738971, 2017 Oct 01.
[Is] ISSN:1615-7109
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. There are several approved medical indications for cannabis use, including psoriasis, lupus, nail-patella syndrome, and severe pain. In addition, very preliminary studies have suggested cannabis and its derivatives might have use in acne, dermatitis, pruritus, wound healing, and skin cancer. Further well-controlled studies are required to explore these potential uses. Conversely, the side effects of cannabis use are relatively well documented, and dermatologists should be aware of these presentations. Side effects of cannabis use include cannabis allergy manifesting as urticaria and pruritus, cannabis arteritis presenting with necrosis and ulcers, and oral cancers from cannabis smoke. In this review, we summarize some of the studies and reports regarding the medicinal uses of cannabis in the dermatology clinic and some of the side effects that might present more often to dermatologists as the use of cannabis increases.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171023
[Lr] Last revision date:171023
[St] Status:Publisher
[do] DOI:10.1177/1203475417738971

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[PMID]: 28941488
[Au] Autor:Najafian B; Smith K; Lusco MA; Alpers CE; Fogo AB
[Ad] Address:Department of Pathology, University of Washington, Seattle, WA.
[Ti] Title:AJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy.
[So] Source:Am J Kidney Dis;70(4):e19-e20, 2017 Oct.
[Is] ISSN:1523-6838
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1709
[Cu] Class update date: 170924
[Lr] Last revision date:170924
[St] Status:In-Data-Review

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[PMID]: 28681095
[Au] Autor:Witzgall R
[Ad] Address:Institute for Molecular and Cellular Anatomy, University of Regensburg, Universitätsstr. 31, 93053, Regensburg, Germany. ralph.witzgall@vkl.uni-regensburg.de.
[Ti] Title:Nail-patella syndrome.
[So] Source:Pflugers Arch;469(7-8):927-936, 2017 Aug.
[Is] ISSN:1432-2013
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract: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. Accordingly, kidney biopsies of patients with nail-patella syndrome show an altered podocyte structure and defects in the glomerular basement membrane. Recent evidence suggests that LMX1B regulates genes which encode proteins associated with the actin cytoskeleton.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1707
[Cu] Class update date: 170804
[Lr] Last revision date:170804
[St] Status:In-Process
[do] DOI:10.1007/s00424-017-2013-z

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[PMID]: 28538898
[Au] Autor:Bunjes BG; Fernandes MDCF
[Ad] Address:Department of Clinical Medicine of the Escola Paulista de Medicina - Universidade Federal de São Paulo (UNIFESP) - São Paulo (SP), Brazil.
[Ti] Title:Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.
[So] Source:An Bras Dermatol;92(2):273-274, 2017 Mar-Apr.
[Is] ISSN:1806-4841
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract: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.
[Mh] MeSH terms primary: Nail-Patella Syndrome/diagnosis
[Mh] MeSH terms secundary: Adult
Humans
Knee/abnormalities
Knee/diagnostic imaging
Male
Nail-Patella Syndrome/diagnostic imaging
Nails, Malformed/etiology
Young Adult
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1710
[Cu] Class update date: 171006
[Lr] Last revision date:171006
[Js] Journal subset:IM
[Da] Date of entry for processing:170525
[St] Status:MEDLINE

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[PMID]: 28383544
[Au] Autor:Jones MC; Topol SE; Rueda M; Oliveira G; Phillips T; Spencer EG; Torkamani A
[Ad] Address:Department of Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, California, USA.
[Ti] Title:Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
[So] Source:Genet Med;19(10):1179-1183, 2017 Oct.
[Is] ISSN:1530-0366
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. RESULTS: We identify a loss-of-function mutation in WIF1 (NM_007191 p.W15*), which is involved in mesoderm segmentation, as the suspected cause of the Nail-Patella-like disorder observed in this family. CONCLUSIONS: Mutation of WIF1 is a potential novel cause of a Nail-Patella-like disorder. Testing of additional patients negative for LMX1B mutation is needed to confirm this finding and further clarify the phenotype.Genet Med advance online publication 06 April 2017.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 171007
[Lr] Last revision date:171007
[St] Status:In-Process
[do] DOI:10.1038/gim.2017.20

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[PMID]: 28335748
[Au] Autor:Nakata T; Ishida R; Mihara Y; Fujii A; Inoue Y; Kusaba T; Isojima T; Harita Y; Kanda C; Kitanaka S; Tamagaki K
[Ad] Address:Division of Nephrology, Department of Medicine, Kyoto Prefectural University of Medicine, 465 Kajii-cho, Kamigyo-ku, Kyoto, 602-8566, Japan.
[Ti] Title:Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
[So] Source:BMC Nephrol;18(1):100, 2017 Mar 23.
[Is] ISSN:1471-2369
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. At the age of 7, she developed nephrotic syndrome and was diagnosed with primary focal segmental glomerulosclerosis by renal biopsy. She received long-term corticosteroid therapy with no obvious response. Her clinical course and orthopedic manifestations indicated NPS, and a genetic analysis showed a de novo mutation in the LMX1B gene (c.819 + 1G > A). Nephropathy in this case was considered to be associated with NPS. Therefore, we discontinued corticosteroids without the exacerbation of nephrotic syndrome. CONCLUSIONS: Patients with NPS may develop nephrotic syndrome prior to overt orthopedic symptoms and only show non-specific findings in renal biopsy at an early stage of NPS nephropathy. Hereditary nephrotic syndrome, often presenting as childhood-onset SRNS, may also be difficult to diagnose in patients with the following conditions: renal symptoms prior to overt extrarenal symptoms, de novo mutations, and non-specific findings in renal biopsy. Therefore, in the management of SRNS in children, we need to reconsider the possibility of hereditary diseases such as NPS even without a family history.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1703
[Cu] Class update date: 170403
[Lr] Last revision date:170403
[St] Status:In-Process
[do] DOI:10.1186/s12882-017-0516-7

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[PMID]: 28328560
[Au] Autor:Sever R; Fishkin M; Hemo Y; Wientroub S; Yaniv M
[Ad] Address:Department of Pediatric Orthopaedics, Dana-Dwek Children's Hospital, Tel Aviv Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[Ti] Title:Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children.
[So] Source:J Pediatr Orthop;, 2017 Mar 21.
[Is] ISSN:1539-2570
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. The procedure includes extensive subperiosteal quadriceps realignment and soft tissue medial plication, followed by distal realignment through patellar tendon splitting. The outcome measures were patellar stability, knee range of motion, Pedi-IKDC knee function score, and the PODCI global function score. RESULTS: The study group included 12 patients, 9 females and 3 males (15 knees) whose mean age was 5 years 2 months at diagnosis and 7 years 5 months at surgery. Nine patients had an underlying diagnosed genetic background [Down syndrome (n=6), Larsen syndrome (n=2), nail-patella syndrome (n=1)]. The mean follow-up was 46.2 months. Eleven patients, gained stable patella with no recurrence of dislocation. Postoperative knee active extension was improved significantly (P<0.0001) for all patients. The average postoperative Pedi-IKDC and PODCI scores were significantly higher (P<0.001) among the idiopathic group. CONCLUSIONS: These results suggest that the Stanisavljevic procedure principles with modifications, provides an efficient method for treatment of fixed and obligatory patellar dislocation. In our opinion, young age at surgery played an important role in the surgical outcome. LEVEL OF EVIDENCE: Level IV-therapeutic.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1703
[Cu] Class update date: 170322
[Lr] Last revision date:170322
[St] Status:Publisher
[do] DOI:10.1097/BPO.0000000000000973

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[PMID]: 28117077
[Au] Autor:Nicolle P; Baudouin C; Brasnu E
[Ad] Address:Centre hospitalier national d'ophtalmologie des Quinze-Vingts, 28, rue de Charenton, 75012 Paris, France. Electronic address: pierrenicolle86@hotmail.com.
[Ti] Title:Glaucome et nail-patella syndrome : à propos d'un cas. [Nail-patella syndrome and glaucoma: A case report].
[So] Source:J Fr Ophtalmol;40(2):e51-e53, 2017 Feb.
[Is] ISSN:1773-0597
[Cp] Country of publication:France
[La] Language:fre
[Pt] Publication type:LETTER
[Em] Entry month:1701
[Cu] Class update date: 170224
[Lr] Last revision date:170224
[St] Status:In-Data-Review


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