keyword
https://read.qxmd.com/read/36362756/cystic-kidney-diseases-that-require-a-differential-diagnosis-from-autosomal-dominant-polycystic-kidney-disease-adpkd
#21
REVIEW
Akinari Sekine, Sumi Hidaka, Tomofumi Moriyama, Yasuto Shikida, Keiji Shimazu, Eiji Ishikawa, Kiyotaka Uchiyama, Hiroshi Kataoka, Haruna Kawano, Mahiro Kurashige, Mai Sato, Tatsuya Suwabe, Shinya Nakatani, Tadashi Otsuka, Hirayasu Kai, Kan Katayama, Shiho Makabe, Shun Manabe, Wataru Shimabukuro, Koichi Nakanishi, Saori Nishio, Fumihiko Hattanda, Kazushige Hanaoka, Kenichiro Miura, Hiroki Hayashi, Junichi Hoshino, Ken Tsuchiya, Toshio Mochizuki, Shigeo Horie, Ichiei Narita, Satoru Muto
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in which family history is unclear, a differential diagnosis between ADPKD and other cystic kidney diseases is important. When diagnosing ADPKD, cystic kidney diseases that can easily be excluded using clinical information include: multiple simple renal cysts, acquired cystic kidney disease (ACKD), multilocular renal cyst/multilocular cystic nephroma/polycystic nephroma, multicystic kidney/multicystic dysplastic kidney (MCDK), and unilateral renal cystic disease (URCD)...
November 3, 2022: Journal of Clinical Medicine
https://read.qxmd.com/read/36241602/tongue-hamartomas-in-pediatric-patients-an-international-case-series-and-literature-review
#22
Maria Eduarda Pérez-de-Oliveira, Liam Robinson, José Narciso Rosa Assunção Júnior, Aline Corrêa Abrahão, Mário José Romañach, Paulo Victor Mendes Penafort, Luan César da Silva, Alan Roger Santos-Silva, Márcio Ajudarte Lopes, Willie F P van Heerden, Pablo Agustin Vargas
This study reports 9 additional tongue hamartomas in children paired with a literature review. A retrospective analysis was performed from 3 Oral Pathology laboratories. Additionally, a literature review was conducted through 5 electronic databases and gray literature. A total of 9 cases were identified in the retrospective analysis. Females outnumbered males with a ratio of 1.25:1. The age of presentation ranged from 2 weeks to 7 years. The posterior dorsum tongue was the most affected subsite (n = 4). One case was seen in a patient with oro-facial-digital syndrome, 2 cases in patients with cleft palates, and one case with an encephalocele...
July 1, 2022: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://read.qxmd.com/read/36229431/ints13-variants-causing-a-recessive-developmental-ciliopathy-disrupt-assembly-of-the-integrator-complex
#23
JOURNAL ARTICLE
Lauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N Jodoin, Poojitha Sitaram, Laura A Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F Nelson, Yixuan Wu, Liang Tong, Linda J Kenney, Sudipto Roy, William K Russell, Jeanne Amiel, Bruno Reversade, Eric J Wagner
Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit anomalies. Mutations within 12 cilia-related genes have been identified that cause several types of OFD, suggesting that OFDs constitute a subgroup of developmental ciliopathies. Through homozygosity mapping and exome sequencing of two families with variable OFD type 2, we identified distinct germline variants in INTS13, a subunit of the Integrator complex...
October 13, 2022: Nature Communications
https://read.qxmd.com/read/36039988/a-splice-site-variant-in-tctn3-underlies-an-atypical-form-of-orofaciodigital-syndrome-iv
#24
JOURNAL ARTICLE
Shabir Hussain, Shoaib Nawaz, Hammal Khan, Anushree Acharya, Isabelle Schrauwen, Wasim Ahmad, Suzanne M Leal
Orofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures...
August 30, 2022: Annals of Human Genetics
https://read.qxmd.com/read/35881509/a-rare-case-of-cleft-palate-associated-with-tongue-hamartoma-a-case-report-and-systematic-review
#25
JOURNAL ARTICLE
Suvashis Dash, Shashank Chauhan, Karthik Sennimalai, Om Prakash Kharbanda, Maneesh Singhal
INTRODUCTION: Palate development involves a genetic regulation through a complex molecular mechanism that may be disrupted by environmental factors, resulting in impaired fusion and cleft palate formation. An encounter with a case of cleft palate due to dorsal tongue hamartoma prompted us to perform this systematic review. OBJECTIVE: To review the clinical profile and management approach for a case with cleft palate and tongue hamartoma. DESIGN: A systematic literature search was conducted using keywords related to cleft palate and tongue hamartoma in PubMed, Scopus, MEDLINE, and Scielo databases through December 2021, with no time or language restrictions...
July 26, 2022: Cleft Palate-craniofacial Journal
https://read.qxmd.com/read/35773765/-pathological-variant-of-ofd1-gene-identified-in-a-pedigree-affected-with-oral-facial-digital-syndrome-type-1
#26
JOURNAL ARTICLE
Peixuan Cao, Xiangyu Zhu, Leilei Gu, Jie Li
OBJECTIVE: To detect pathological variant in a Chinese pedigree affected with oral-facial-digital syndrome type 1 (OFD1). METHODS: Whole-exome sequencing was used to scan the whole exome of the proband. Potential variant of the OFD1 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. X chromosome inactivation analysis was performed. With the determination of the genotype, prenatal diagnosis was carried out by amniotic fluid sampling...
June 10, 2022: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/35720483/abnormal-accumulation-of-ofd1-in-endometrial-cancer-with-poor-prognosis-inhibits-ciliogenesis
#27
JOURNAL ARTICLE
Ryuji Kojima, Esraa Hassan, Fumiko Ozawa, Chisato Yamada-Namikawa, Shino Ogawa, Shoko Mase, Shinobu Goto, Ryutaro Nishikawa, Hiroshi Inagaki, Yoichi Kato, Mayumi Sugiura-Ogasawara
The aim of the present study was to examine primary cilia in endometrial tissue during the menstrual cycle and to clarify their morphological changes with different grades of endometrial cancer. Images of fluorescence immunostaining taken by confocal microscopy were used to count the number of primary cilia in normal endometrium and endometrioid carcinoma Grade 1 and Grade 3 specimens. To examine the association between autophagy and ciliogenesis in endometrioid carcinoma, the expression of p62/Sequestosome-1, a selective substrate for autophagy, and oral-facial-digital syndrome 1 protein (OFD1), a protein associated with ciliogenesis, were examined using images of fluorescence immunostaining taken by confocal microscopy...
July 2022: Oncology Letters
https://read.qxmd.com/read/35582950/whole-exome-sequencing-identified-novel-variants-in-cplane1-that-causes-oral-facial-digital-syndrome-%C3%A2-by-inducing-primary-cilia-abnormality
#28
JOURNAL ARTICLE
Wen Qian, Xinlei Liu, Zhengrong Wang, Yongjie Xu, Jingzhi Zhang, Haizhi Li, Qiang Zhong, Chengcheng Li, Liying Zhu, Zunlun Zhou, Wei Pan
Oral-facial-digital syndrome (OFDS) is a multisystemic ciliopathic disorder with an autosomal recessive mode of inheritance. OFDS usually manifests with typical craniofacial anomalies and variable occurrence of polydactyly. Germline variants in CPLANE1 cause OFDS VI. In this study, we investigated a 26-year-old Chinese female patient who was 23+1  weeks pregnant. She had a history of adverse pregnancy outcomes with multiple foetal malformations. We performed ultrasonography and identified the foetus as having a posterior fossa Blake cyst and postaxial polydactyly...
May 18, 2022: Journal of Cellular and Molecular Medicine
https://read.qxmd.com/read/35450320/oral-facial-digital-syndrome-type-1-a-case-report-and-review
#29
Young Wook Ko, Joo Yeon Ko, Young Suck Ro, Jeong Eun Kim
Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female presented with multiple tiny whitish papules on her face that had been present since birth. The histopathologic examination was consistent with milium. She also had congenital anomalies, including incomplete cleft palate, bifid tongue, short frenulum, anomalous deformities of both toes, and clino-brachy-syndactyly...
April 2022: Annals of Dermatology
https://read.qxmd.com/read/35439611/phenotypic-overlap-between-cardioacrofacial-dysplasia-2-and-oral-facial-digital-syndrome
#30
JOURNAL ARTICLE
Mamiko Yamada, Hisato Suzuki, Hiroshi Futagawa, Toshiki Takenouchi, Fuyuki Miya, Hiroshi Yoshihashi, Kenjiro Kosaki
Oral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands and feet...
April 16, 2022: European Journal of Medical Genetics
https://read.qxmd.com/read/35437898/acute-pancreatitis-during-long-term-peritoneal-dialysis-management-associated-with-the-ofd-1-mutation
#31
JOURNAL ARTICLE
Hiroki Tsuchiya, Junya Shimizu, Takahiro Namba, Yasuo Nakahara, Toshihide Kubo
No abstract text is available yet for this article.
January 2022: Pediatrics International: Official Journal of the Japan Pediatric Society
https://read.qxmd.com/read/35398350/expanding-the-phenotype-of-males-with-ofd1-pathogenic-variants-a-case-report-and-literature-review
#32
JOURNAL ARTICLE
Balram Gangaram, W Patrick Devine, Anne Slavotinek
Pathogenic variants in the OFD1 gene have been classically associated with the Orofaciodigital syndrome type 1 in females, a condition previously considered to be X-linked dominant with male embryonic lethality. However, an increasing number of males with pathogenic OFD1 variants who survived beyond the neonatal period have now been reported in the literature. Although each new report has added to the ever-broadening spectrum of clinical findings seen in males, many questions about genotype-phenotype correlations and disease mechanism remain...
April 6, 2022: European Journal of Medical Genetics
https://read.qxmd.com/read/35101355/-genetic-screening-is-essential-in-polycystic-kidney-disease-it-is-never-too-late
#33
JOURNAL ARTICLE
Clémence Petit, Diego Cantarovich, Virginie Langs, Bertrand Isidor, Lucile Figueres
In France, numerous patients suffered from chronic kidney disease on polycystic kidney disorder. If PKD1 and PKD2 inactivating mutations are the most prevalent, several other genetic polycystic kidney diseases are responsible for similar kidney features and may be associated with severe extrarenal phenotypes. Genetic analysis in front of a polycystic disorder is not systematic, but is essential to assess the genetic diagnosis, discuss the intensity of treatment (vaptan) and precise the prognostic and the transmission of the phenotype...
April 2022: Néphrologie & Thérapeutique
https://read.qxmd.com/read/35068850/oro-facial-digital-syndrome-unspecified-type-with-the-spontaneous-fusion-of-cleft-palate
#34
Prashant Kumar Verma, Nowneet Kumar Bhat
Oro-facial-digital syndrome (OFD) is a disorder with varied inheritance patterns. They deal mainly with abnormalities of the face, digits, i.e., fingers and toes, and oral cavity. Hypoplasia of nasal alar cartilage, broad nasal bridge, frontal bossing, and micrognathia are the common facial abnormalities observed in its multiple potential forms. Among the oral features, lobulated tongue, multiple frenulae, and cleft lip/palate are the common findings. The subject presented in our case manifested cleft of the hard palate at the time of presentation, along with other diverse features, which could not match any of the defined OFD types in literature...
October 2021: Contemporary Clinical Dentistry
https://read.qxmd.com/read/34957672/myosin-vi-regulates-ciliogenesis-by-promoting-the-turnover-of-the-centrosomal-satellite-protein-ofd1
#35
JOURNAL ARTICLE
Elisa Magistrati, Giorgia Maestrini, Carlos A Niño, Mariana Lince-Faria, Galina Beznoussenko, Alexandre Mironov, Elena Maspero, Mónica Bettencourt-Dias, Simona Polo
The actin motor protein myosin VI is a multivalent protein with diverse functions. Here, we identified and characterised a myosin VI ubiquitous interactor, the oral-facial-digital syndrome 1 (OFD1) protein, whose mutations cause malformations of the face, oral cavity, digits and polycystic kidney disease. We found that myosin VI regulates the localisation of OFD1 at the centrioles and, as a consequence, the recruitment of the distal appendage protein Cep164. Myosin VI depletion in non-tumoural cell lines causes an aberrant localisation of OFD1 along the centriolar walls, which is due to a reduction in the OFD1 mobile fraction...
February 3, 2022: EMBO Reports
https://read.qxmd.com/read/34750010/compound-heterozygous-adamts9-variants-in-joubert-syndrome-related-disorders-without-renal-manifestation
#36
Hiroko Baber Matsushita, Takuya Hiraide, Katsumi Hayakawa, Sozo Okano, Mitsuko Nakashima, Hirotomo Saitsu, Mitsuhiro Kato
BACKGROUND: Ciliopathies are the outcomes of defects of primary cilia structures and functions which cause multisystemic developmental disorders, such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, Joubert syndrome (JS), and JS-related disorders (JSRD) with additional organ involvement including oral-facial-digital syndrome and so on. They often share common and unexpected phenotypic features. CASE PRESENTATION: We report a 4-year-old-boy case with compound heterozygous variants of ADAMTS9...
February 2022: Brain & Development
https://read.qxmd.com/read/34623732/intu-related-oral-facial-digital-syndrome-xvii-clinical-spectrum-of-a-rare-disorder
#37
Omer Yakar, Abdulgani Tatar
Oral-facial-digital syndromes (OFDSs) as a subgroup of ciliopathies are rare genetic disorders characterized by the association of abnormalities of the face, oral cavity, and extremities. OFDS XVII is a recently described subtype of OFDS that presents with developmental delay, facial dysmorphism, high palate, tongue nodules, brain malformations, cardiac anomaly, polydactyly, renal malformation, and various other findings. OFDS XVII is caused by biallelic variants in INTU gene and is inherited autosomal recessively...
October 8, 2021: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/34458183/oro-facial-digital-syndrome-type-i-a-case-report-with-novel-features
#38
REVIEW
Shaheen Syed, Poonam Ramnath Sawant, Anita Spadigam, Anita Dhupar
Oro-facial-digital syndrome is a group of rare heterogeneous hereditary disorders characterized by abnormalities of the oral cavity, face and digits, along with varying degrees of mental retardation. Currently, Oro-facial-digital syndrome has been classified into 14 types and two additional unclassified variants have been proposed. Amongst the various variants described, Oro-facial-digital syndrome type I is the most common. We report an interesting subclinical sporadic case of Oro-facial-digital syndrome type I in a 21-year-old female patient...
2021: Autopsy & Case Reports
https://read.qxmd.com/read/34446671/novel-surgical-technique-for-correction-of-incomplete-median-cleft-lip-deformity-in-oral-facial-digital-syndrome-type-ii
#39
JOURNAL ARTICLE
Masayuki Osawa, Yuhei Yamamoto, Munezumi Fujita, Taku Maeda, Emi Funayama
Oral-facial-digital syndromes (OFDSs) represent a heterogenous group of embryonic development disorders characterized by malformations of the face, oral cavity, and extremities. Oral-facial-digital syndrome type II is an autosomal recessive disease characterized by median cleft lip, gingival frenula, cleft lobulated tongue, and polydactyly. There are few reports on surgical techniques for correction of incomplete median cleft lip. Here we describe a novel surgical method that we used to correct an incomplete median cleft lip in a 5-year-old girl with oral-facial-digital syndrome type II...
August 25, 2021: Journal of Craniofacial Surgery
https://read.qxmd.com/read/34211969/centriolar-protein-c2cd3-is-required-for-craniofacial-development
#40
JOURNAL ARTICLE
Ching-Fang Chang, Kari M Brown, Yanfen Yang, Samantha A Brugmann
The primary cilium is a ubiquitous, microtubule-based cellular organelle. Primary cilia dysfunction results in a group of disorders termed ciliopathies. C2 domain containing 3 centriole elongation regulator (C2cd3), encodes a centriolar protein essential for ciliogenesis. Mutations in human C2CD3 are associated with the human ciliopathy Oral-Facial-Digital syndrome type 14 (OFD14). In order to better understand the etiology of ciliopathies including OFD14, we generated numerous murine models targeting C2cd3...
2021: Frontiers in Cell and Developmental Biology
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