Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study

Authors: Thibaud Lebret, Séverine Hatton, Jacques Callebert, Valérie Cormier-Daire, Céline Greco

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Subject Terms: Nail-patella syndrome, Chronic pain, Cannabinoids, Pain management, Serotonin, Noradrenaline, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/4c97149c289e450a8eea7beaa09a1609

Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report

Authors: Saroj Sitaula, Sabina Sitaula, Pragati Khadka, Roshna Adhikari

Source: Radiology Case Reports, Vol 19, Iss 10, Pp 4327-4330 (2024)

Subject Terms: Nail patella syndrome, Radiology, Patellar hypoplasia, Iliac horns, Radial dislocation, Medical physics. Medical radiology. Nuclear medicine, R895-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324005478; https://doaj.org/toc/1930-0433

Access URL: https://doaj.org/article/1323889eb5454275b145bcdbf080d021

Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.

Authors: Banno, Yoshinori, Ikemiyagi, Masako, Hamada, Riku, Nozu, Kandai, Matsuoka, Kentaro, Kamimaki, Isamu

Source: Pediatric Nephrology; Sep2024, Vol. 39 Issue 9, p2627-2631, 5p

Subject Terms: FINGER abnormalities, FINGER physiology, PROTEINS, PROTEINURIA, BIOPSY, TRANSCRIPTION factors, THUMB, NAIL-patella syndrome, GENETIC mutation, KIDNEY diseases

The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report

Authors: Kazuya Matsumoto, Yoshinori Matsumoto, Shoichi Nawachi, Yosuke Asano, Yu Katayama, Yoshia Miyawaki, Takayuki Katsuyama, Eri Katsuyama, Yoshihisa Nasu, Ken-Ei Sada, Jun Wada

Source: BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-5 (2024)

Subject Terms: Nail-patella syndrome, Rheumatoid arthritis, Joint dislocation, Iliac horn, Case report, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2474

Access URL: https://doaj.org/article/ea5db3ccacff472691f6b241be818b84

Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.

Authors: Harita, Yutaka¹ haritay-ped@h.u-tokyo.ac.jp, Kitanaka, Sachiko¹, Isojima, Tsuyoshi¹, Ashida, Akira², Hattori, Motoshi³

Source: Pediatric Nephrology. Oct2017, Vol. 32 Issue 10, p1845-1850. 6p.

Subject Terms: *NAIL-patella syndrome, *HISTOLOGY, *KIDNEY diseases, *GENETIC mutation, *GENOTYPES, *GENETICS, *PROGNOSIS

LIM Homeobox Transcription Factor 1 Beta associated nephropathy in an infant without Nail-Patella-Syndrome.

Authors: Rahman, Rehna K., Sankar, T Hari, Pachat, Divya

Source: Asian Journal of Pediatric Nephrology; Jul-Dec2024, Vol. 7 Issue 2, p55-57, 3p

Subject Terms: STEROID drugs, EDEMA, TRANSCRIPTION factors, EYE diseases, GENES, EYELIDS, KIDNEY diseases, GENETIC mutation, NAIL-patella syndrome, DRUG resistance

A Case Report of Nail-Patella Syndrome

Authors: CHEN Dan, SUN Liying, ZHONG Wenyao, TIAN Wen

Source: 罕见病研究, Vol 2, Iss 4, Pp 611-615 (2023)

Subject Terms: nail-patella syndrome, lmx1b gene, arthrogryposis, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/2097-0501

Access URL: https://doaj.org/article/d070f866eeef492ab875f3f8d3adc774

Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report.

Authors: YUBAO GONG¹, CHEN YANG¹, YANG LIU², JIANGUO LIU¹, XIN QI¹ imokol@hotmail.com

Source: Experimental & Therapeutic Medicine. Jun2016, Vol. 11 Issue 6, p2361-2364. 4p.

Subject Terms: *NAIL-patella syndrome, *PATELLAR ligament surgery, *PATELLOFEMORAL joint, *PLASTIC surgery

Genetic analysis of a pedigree with nail-patella syndrome and literature review

Authors: Liu Yingwen, Zhang Yuxin, Yan Lulu, Han Chunxiao, Li Haibo

Source: Xin yixue, Vol 54, Iss 5, Pp 365-369 (2023)

Subject Terms: nail-patella syndrome, lmx1b, whole-exon sequencing, Medicine

File Description: electronic resource

Relation: https://www.xinyixue.cn/fileup/0253-9802/PDF/1686187841405-1881378887.pdf; https://doaj.org/toc/0253-9802

Access URL: https://doaj.org/article/cce9060cb6d84d61b30431da38837bc4

Nail-Patella Syndrome: A Rare Cause of Nephrotic Syndrome in Pregnancy.

Authors: Aboobacker, I. N.¹ ferozaziz@gmail.com, Krishnakumar, A.¹, Narayanan, S.¹, Hafeeque, B.¹, Gopinathan, J. C.¹, Aziz, F.¹

Source: Indian Journal of Nephrology. Jan/Feb2018, Vol. 28 Issue 1, p76-78. 3p.

Subject Terms: *ANTICOAGULANTS, *NAIL-patella syndrome, *ANGIOTENSIN receptors, *ELECTRON microscopy, *NEPHROTIC syndrome, *PERINATAL death, *PROTEINURIA, *DIAGNOSIS, *THERAPEUTICS

Prenatal diagnosis of nail patella syndrome: A case report.

Authors: Padmanabhan, L. D.¹ latoshmi@gmail.com, Yesodharan, D.², Nampoothiri, S.²

Source: Indian Journal of Radiology & Imaging. Jul-Sep2017, Vol. 27 Issue 3, p329-331. 3p.

Subject Terms: *NAIL-patella syndrome, *ELBOW, *KNEE, *DIAGNOSIS

A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome.

Authors: Shujuan Jiang¹ jsjdreamer@163.com, Jiubin Zhang² zhangjiubin1988@126.com, Dan Huang¹ huangying_0301@163.com, Yuanyuan Zhang¹ yyzhao@sj-hospital.org, Xiaoliang Liu¹ xiaoliang1981@126.com, Yinzhao Wang³ wangyinzhao@163.com, Rong He¹ her@sj-hospital.org, Yanyan Zhao¹ zyy.0526@163.com

Source: International Journal of Molecular Sciences. 2014, Vol. 15 Issue 11, p20158-20168. 12p. 1 Color Photograph, 2 Charts, 3 Graphs.

Subject Terms: *NAIL-patella syndrome, *LIGATION reactions, *DELETION mutation, *DNA probes

Geographic Terms: CHINA

A case of nail-patella syndrome associated with thyrotoxicosis.

Authors: Haras, M.^1,2 monicaharas@gmail.com, Vulpoi, C.², Onose, G.²

Source: Journal of Medicine & Life. Jan-Mar2012, Vol. 5 Issue 1, p126-129. 4p. 1 Color Photograph, 1 Chart.

Subject Terms: *NAIL-patella syndrome, *HYPERTHYROIDISM, *HOSPITAL care, *BONE density

NAIL-PATELLA SYNDROME – CASE REPORT.

Authors: Cristina, Stoica¹ drcristinastoica@yahoo.com, Chiriac-Babei, Gh.¹, Mariana, Vasilescu¹, Roxana, Matei², Lungu, A.¹, Monica, Joiteanu¹

Source: Therapeutics, Pharmacology & Clinical Toxicology. 2011, Vol. 15 Issue 3, p249-254. 6p. 8 Color Photographs, 3 Black and White Photographs, 1 Chart.

Subject Terms: *KIDNEY diseases, *NAIL-patella syndrome, *NAIL diseases, *CHRONIC kidney failure

Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature

Authors: Nicola Pallozzi Lavorante, Michele Iester, Chiara Bonzano, Alessandro Bagnis, Carlo Enrico Traverso, Carlo Alberto Cutolo

Source: Case Reports in Ophthalmology, Vol 13, Iss 3, Pp 984-990 (2022)

Subject Terms: nail-patella syndrome, glaucoma, lmx1b, filtering surgery, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/527234; https://doaj.org/toc/1663-2699

Access URL: https://doaj.org/article/0c7c8905452d4fc6ab9db7d1f901ba56

Simultaneous kidney and pancreas transplantation in a patient with nail-patella syndrome and insulin-dependent diabetes.

Authors: Sloane, Peter, Hunter, Janel Darcy, Lin, Jen-Jar, Chen, Ashton

Source: Pediatric Nephrology; Jun2023, Vol. 38 Issue 6, p1985-1989, 5p, 1 Diagram

Subject Terms: HYPOTHYROIDISM, GENETIC mutation, HLA-B27 antigen, KIDNEY transplantation, PANCREAS transplantation, TYPE 1 diabetes, TREATMENT effectiveness, NAIL-patella syndrome, CHILDREN

Total Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome

Authors: Teruya Ishibashi, MD, PhD, Tetsuya Tomita, MD, PhD, Masashi Tamaki, MD, PhD, Toshitaka Fujito, MD, PhD, Seiji Okada, MD, PhD

Source: Arthroplasty Today, Vol 20, Iss , Pp 101099- (2023)

Subject Terms: Total knee arthroplasty, Patellar dislocation, Osteoarthritis, Nail patella syndrome, Genu valgum, Small patella, Orthopedic surgery, RD701-811

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352344123000043; https://doaj.org/toc/2352-3441

Access URL: https://doaj.org/article/0167d87dc74e48c0accf21214d344feb

Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings

Authors: Hafsa Z. Zuberi, Ashika Angirekula, Muhammad R. Akram, Karanjit S. Kooner

Source: Case Reports in Ophthalmology, Vol 13, Iss 1, Pp 227-233 (2022)

Subject Terms: nail-patella syndrome, glaucoma, ocular hypertension, optical coherence tomography angiography, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/523984; https://doaj.org/toc/1663-2699

Access URL: https://doaj.org/article/458c8d54d67f41d993a89fb7fce68448

A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation.

Authors: Cross, Sally H.¹, sally.cross@igmm.ed.ac.uk, Macalinao, Danilo G.², McKie, Lisa¹, Rose, Lorraine³, Kearney, Alison L.², Rainger, Joe¹, Thaung, Caroline⁴, Keighren, Margaret¹, Jadeja, Shalini¹, West, Katrine¹, Kneeland, Stephen C.², Smith, Richard S.², Howell, Gareth R.², Young, Fiona⁵, Robertson, Morag¹, van t' Hof, Rob³, John, Simon W. M.², Jackson, Ian J.^1,6

Source: PLoS Genetics; May2014, Vol. 10 Issue 5, p1-15, 15p

A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.

Authors: Mukai, Miho, Fujita, Harumi^1,2, Umegaki-Arao, Noriko, Sasaki, Takashi^1,3, Yasuda-Sekiguchi, Fumiyo, Isojima, Tsuyoshi, Kitanaka, Sachiko, Amagai, Masayuki^1,2, Kubo, Akiharu akiharu@keio.jp

Source: Journal of Dermatological Science. Apr2018, Vol. 90 Issue 1, p90-93. 4p.

Subject Terms: *NAIL-patella syndrome, *GENETIC mutation, *GENETIC transcription, *LUCIFERASES, *BIOLOGICAL assay