keyword
MENU ▼
Read by QxMD icon Read
search

Kabuki

keyword
https://www.readbyqxmd.com/read/28404210/characteristics-of-epilepsy-in-patients-with-kabuki-syndrome-with-kmt2d-mutations
#1
Naoko Kurahashi, Noriko Miyake, Seiji Mizuno, Eriko Koshimizu, Hirokazu Kurahashi, Keitaro Yamada, Jun Natsume, Yusuke Aoki, Miho Nakamura, Hiroko Taniai, Yuki Maki, Chihiro Abe-Hatano, Naomichi Matsumoto, Koichi Maruyama
BACKGROUND: The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS: We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records from October 1981 to May 2016 were retrospectively analyzed. RESULTS: Epilepsy was present in 5 (36%) patients. Four of these patients presented with nonsense mutations and one with missense mutations...
April 9, 2017: Brain & Development
https://www.readbyqxmd.com/read/28402432/educational-outcomes-of-a-medical-physicist-program-over-the-past-10%C3%A2-years-in-japan
#2
Noriyuki Kadoya, Kumiko Karasawa, Iori Sumida, Hidetaka Arimura, Yasumasa Kakinohana, Shigeto Kabuki, Hajime Monzen, Teiji Nishio, Hiroki Shirato, Syogo Yamada
The promotion plan for the Platform of Human Resource Development for Cancer (Ganpro) was initiated by the Ministry of Education, Culture, Sports, Science and Technology of Japan in 2007, establishing a curriculum for medical physicists. In this study, we surveyed the educational outcomes of the medical physicist program over the past 10 years since the initiation of Ganpro. The Japan Society of Medical Physics mailing list was used to announce this survey. The questionnaire was created by members of the Japanese Board for Medical Physicist Qualification, and was intended for the collection of information regarding the characteristics and career paths of medical physics students...
April 11, 2017: Journal of Radiation Research
https://www.readbyqxmd.com/read/28392865/cardio-ankle-vascular-index-and-c-reactive-protein-are-useful-parameters-for-identification-of-ischemic-heart-disease-in-acute-heart-failure-patients
#3
Shunsuke Kiuchi, Shinji Hisatake, Takayuki Kabuki, Takashi Oka, Shintaro Dobashi, Takahiro Fujii, Takanori Ikeda
BACKGROUND: The most common cause of heart failure (HF) is ischemic heart disease (IHD). Evaluation of IHD with non-invasive examinations is useful for the treatment of HF, and cardio-ankle vascular index (CAVI) is a good parameter for detecting systemic arteriosclerosis. However, the relationship between IHD and CAVI in acute HF (AHF) patients is still unclear. Therefore, we investigated the effect of non-invasive examinations, including CAVI to detect IHD. METHODS: We studied 53 consecutive patients (average age of 66...
May 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28392863/efficacy-of-intravenous-administration-of-landiolol-in-patients-with-acute-heart-failure-and-supraventricular-tachyarrhythmia
#4
Shunsuke Kiuchi, Hiroto Aikawa, Shinji Hisatake, Takayuki Kabuki, Takashi Oka, Shintaro Dobashi, Takahiro Fujii, Takanori Ikeda
BACKGROUND: Patients with acute heart failure (HF) complicated by supraventricular tachyarrhythmia (SVT) often receive continuous intravenous infusion of landiolol or diltiazem for rate control. It is unclear whether the interval from initiation of infusion to commencement of oral beta-blocker (BB) therapy differs for these two drugs. METHODS: From January 2013 to July 2015, 94 consecutive patients were hospitalized for acute HF complicated by SVT. After 35 patients were excluded, the remaining 59 were divided into groups treated with diltiazem or landiolol...
May 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/28374925/clinical-spectrum-of-kabuki-like-syndrome-caused-by-hnrnpk-haploinsufficiency-case-report-and-literature-review
#5
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Francesca Pantaleoni, Simone Pizzi, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In approximately 30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Here, we report on an 11 year-old girl with a complex phenotype in whom the diagnosis of KS was suggested but molecular testing for the known causative disease genes was negative...
April 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28373809/a-child-with-kabuki-syndrome-and-autism-spectrum-disorder
#6
Mehmet Sertçelik, Çağatay Uğur, Aynur Şahin Aközel, Cihat Kağan Gürkan
Kabuki syndrome (KS) is characterized by skeletal abnormalities, short stature, characteristic facial features, postnatal growth delay, and mental retardation. There are only a few case reports that present the coexistence of KS with autism spectrum disorder (ASD) in the literature. Herein we present the case of a boy with KS and ASD and discuss the possible shared etiologies. A 4-year-old boy was brought by his parents with complaints of no speech, hyperactivity, enuresis complex, temper tantrum, self-injury, and harming people or objects...
September 2016: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/28295206/molecular-clinical-and-neuropsychological-study-in-31-patients-with-kabuki-syndrome-and-kmt2d-mutations
#7
Natacha Lehman, Anne Claire Mazery, Antoine Visier, Clarisse Baumann, Dominique Lachesnais, Yline Capri, Annick Toutain, Sylvie Odent, Myriam Mikaty, Cyril Goizet, Emmanuelle Taupiac, Marie Line Jacquemont, Elodie Sanchez, Elise Schaefer, Vincent Gatinois, Laurence Faivre, Delphine Minot, Honorine Kayirangwa, Kim-Hanh Le Qang Sang, Nathalie Boddaert, Sophie Bayard, Didier Lacombe, Sébastien Moutton, Isabelle Touitou, Marlène Rio, Jeanne Amiel, Stanislas Lyonnet, Damien Sanlaville, Marie Christine Picot, David Geneviève
Kabuki syndrome (KS - OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with Kabuki syndrome and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI)...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28256057/interrupted-bipartite-clavicle-as-a-diagnostic-clue-in-kabuki-syndrome
#8
Maria Haanpää, Helena Schlecht, Gauri Batra, Jill Clayton-Smith, Sofia Douzgou
Kabuki syndrome is a rare developmental disorder characterized by typical facial features, postnatal growth deficiency, mild to moderate intellectual disability, and minor skeletal anomalies. It is caused by mutations of the KMT2D and KDM6A genes while recently RAP1A and RAP1B mutations have been shown to rarely contribute to the pathogenesis. We report two patients' presentation of Kabuki syndrome caused by different KMT2D mutations, both including an interrupted/bipartite clavicle. The clinical diagnosis of Kabuki syndrome may be challenging, especially in younger patients and we suggest that the observation of a bipartite clavicle may be an additional diagnostic clue to prompt investigation for Kabuki syndrome...
March 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28239036/short-term-subcutaneous-fondaparinux-and-oral-edoxaban-for-acute-venous-thromboembolism
#9
Shinji Hisatake, Takayuki Kabuki, Shunsuke Kiuchi, Takashi Oka, Shintaro Dobashi, Takahiro Fujii, Yoshihiro Iwasaki, Takanori Ikeda
BACKGROUND: No studies have compared treatment efficacy between subcutaneous (SC) fondaparinux and oral edoxaban, which are categorized as factor Xa inhibitors, for venous thromboembolism (VTE) in the acute phase, and only a limited number of imaging-based quantitative studies have evaluated treatment.Methods and Results:In this open-label, randomized study, 50 patients with acute non-massive pulmonary embolism (PE) and/or deep-vein thrombosis (DVT) were assigned to fondaparinux or edoxaban groups...
February 25, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28197286/pulse-pressure-and-upstroke-time-are-useful-parameters-for-the-diagnosis-of-peripheral-artery-disease-in-patients-with-normal-ankle-brachial-index
#10
Shunsuke Kiuchi, Shinji Hisatake, Ippei Watanabe, Mikihito Toda, Takayuki Kabuki, Takashi Oka, Shintaro Dobashi, Takanori Ikeda
BACKGROUND: Some peripheral artery disease (PAD) patients have normal ankle brachial index (ABI) (0.9 - 1.4), although ABI is a useful parameter for the diagnosis of PAD. We investigated whether other parameters of ABI report sheet are useful to detect these patients. METHODS: We initially enrolled 3,912 patients (7,824 limbs) who underwent ABI for the first time. Subjects who have normal ABI were divided into the PAD group (n = 136) and the non-PAD group (n = 240) by lower extremity ultrasonography...
October 2016: Cardiology Research
https://www.readbyqxmd.com/read/28139835/unraveling-molecular-pathways-shared-by-kabuki-and-kabuki-like-syndromes
#11
REVIEW
C Lintas, A M Persico
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been identified as the main cause of KS, accounting for 56%-75% and 3%-8% of cases, respectively. Patients without mutations in 1 of the 2 causative KS genes are often referred to as affected by Kabuki-like syndrome. Overall, they represent approximately 30% of KS cases, pointing toward substantial genetic heterogeneity for this condition...
January 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28106023/robotic-surgery-for-atrial-septal-defect-closure-in-a-case-of-kabuki-syndrome
#12
Burak Onan, Ünal Aydın, Zeynep Kahraman, İhsan Bakır
Kabuki syndrome is a rare congenital malformation syndrome characterized by mental retardation, skeletal deformities, auditory dysfunction, cardiac defects, and distinctive facial appearance. Although complex cardiovascular malformations present in early childhood, rarely, atrioventricular septal defects may also present in young adults. Presently described is case of a 22-year-old female with KS who presented with ostium secundum atrial septal defect with deficient rim and idiopathic thrombocytopenic purpura...
January 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28102591/hyperinsulinemic-hypoglycemia-in-beckwith-wiedemann-sotos-and-kabuki-syndromes-a-nationwide-survey-in-japan
#13
Naoko Toda, Kenji Ihara, Kanako Kojima-Ishii, Masayuki Ochiai, Kazuhiro Ohkubo, Yutaka Kawamoto, Yoshinori Kohno, Sakae Kumasaka, Akihiko Kawase, Yasuhisa Ueno, Takeshi Futatani, Tokuo Miyazawa, Yuko Nagaoki, Setsuko Nakata, Maiko Misaki, Hiroko Arai, Masahiko Kawai, Maki Sato, Yukari Yada, Nobuhiro Takahashi, Atsushi Komatsu, Kanemasa Maki, Shinichi Watabe, Yutaka Sumida, Makoto Kuwashima, Hiroshi Mizumoto, Kazuo Sato, Toshiro Hara
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome that is occasionally associated with hyperinsulinemic hypoglycemia (HH) in the neonatal period. Sotos syndrome (SS) and Kabuki syndrome (KS) are other malformation syndromes that may be complicated with HH, however, the detailed clinical characteristics of HH accompanied with these syndromes remain unclear. We herein conducted a nationwide questionnaire survey in Japan. We sent a primary questionnaire concerning the clinical experience for these syndromes to 347 perinatal care institutions...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28046525/su-c-207a-03-development-of-proton-ct-imaging-system-using-thick-scintillator-and-ccd-camera
#14
S Tanaka, T Nishio, K Matsushita, M Tsuneda, S Kabuki, M Uesaka
PURPOSE: In the treatment planning of proton therapy, Water Equivalent Length (WEL), which is the parameter for the calculation of dose and the range of proton, is derived by X-ray CT (xCT) image and xCT-WEL conversion. However, about a few percent error in the accuracy of proton range calculation through this conversion has been reported. The purpose of this study is to construct a proton CT (pCT) imaging system for an evaluation of the error. METHODS: The pCT imaging system was constructed with a thick scintillator and a cooled CCD camera, which acquires the two-dimensional image of integrated value of the scintillation light toward the beam direction...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/27999180/a-ketogenic-diet-rescues-hippocampal-memory-defects-in-a-mouse-model-of-kabuki-syndrome
#15
Joel S Benjamin, Genay O Pilarowski, Giovanni A Carosso, Li Zhang, David L Huso, Loyal A Goff, Hilary J Vernon, Kasper D Hansen, Hans T Bjornsson
Kabuki syndrome is a Mendelian intellectual disability syndrome caused by mutations in either of two genes (KMT2D and KDM6A) involved in chromatin accessibility. We previously showed that an agent that promotes chromatin opening, the histone deacetylase inhibitor (HDACi) AR-42, ameliorates the deficiency of adult neurogenesis in the granule cell layer of the dentate gyrus and rescues hippocampal memory defects in a mouse model of Kabuki syndrome (Kmt2d(+/βGeo)). Unlike a drug, a dietary intervention could be quickly transitioned to the clinic...
January 3, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27991736/kmt2d-p-gln3575his-segregating-in-a-family-with-autosomal-dominant-choanal-atresia-strengthens-the-kabuki-charge-connection
#16
Lauren Badalato, Sali M K Farhan, Allison A Dilliott, Dennis E Bulman, Robert A Hegele, Sharan L Goobie
Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27990414/what-is-new-in-genetics-of-congenital-heart-defects
#17
REVIEW
Maria Cristina Digilio, Bruno Marino
Epidemiological studies, clinical observations, and advances in molecular genetics are contributing to the understanding of the etiology of congenital heart defects (CHDs). Several phenotype-genotype correlation studies have suggested that specific morphogenetic mechanisms put in motion by genes can result in a specific cardiac phenotype. The use of new technologies has increased the possibility of identification of new genes and chromosomal loci in syndromic and non-syndromic CHDs. There are a number of methods available for genetic research studies of CHDs, including cytogenetic analysis, linkage and association studies, copy number variation (CNV) and DNA micro-array analysis, and whole exome sequencing...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27979674/a-treatment-strategy-using-subcutaneous-fondaparinux-followed-by-oral-rivaroxaban-is-effective-for-treating-acute-venous-thromboembolism
#18
Takayuki Kabuki, Rine Nakanishi, Shinji Hisatake, Takahiro Fujii, Shintaro Dobashi, Shingo Wakakura, Shunsuke Kiuchi, Tadashi Fujino, Takanori Ikeda
BACKGROUND: The factor Xa inhibitors have been widely used for the treatment and prevention of venous thromboembolism (VTE). However, the efficacy of factor Xa inhibitors in Japanese patients with VTE has not been well examined. In this study, we investigated the effect of the sequential use of two factor Xa inhibitors in patients with acute VTE. METHODS: We conducted an observational study of 87 consecutive patients diagnosed with VTE. As an initial treatment, we administered subcutaneous fondaparinux to the patients for 7-10 days, and then switched to oral rivaroxaban...
December 12, 2016: Journal of Cardiology
https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#19
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27882258/dysmorphic-facial-features-and-other-clinical-characteristics-in-two-patients-with-pex1-gene-mutations
#20
Mehmet Gunduz, Ozlem Unal
Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems...
2016: Case Reports in Pediatrics
keyword
keyword
20416
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"