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Simon S Rabinowitz, Neha Ahuja, Jennifer Gottfried
An 11-year-old Caucasian boy, with a microdeletion in the 1q21.1-q21.2 region, had multiple medical conditions including gastroparesis documented initially at the age of 5. The patient had a history of poor feeding since infancy and had been treated for gastro-oesophageal reflux disease (GERD), constipation and multiple food allergies. As a consequence of the GERD and his concurrent immunoglobulin (IgG) subclass deficiency, the patient had multiple otolaryngologic (ENT) infections and required two sinus surgeries...
March 15, 2018: BMJ Case Reports
Masafumi Taniwaki, Mihoko Yoshida, Yosuke Matsumoto, Kazuho Shimura, Junya Kuroda, Hiroto Kaneko
Elotuzumab, targeting signaling lymphocytic activation molecule family 7 (SLAMF7), has been approved in combination with lenalidomide and dexamethasone (ELd) for relapsed/refractory multiple myeloma (MM) based on the findings of the phase III randomized trial ELOQUENT-2 (NCT01239797). Four-year follow-up analyses of ELOQUENT-2 have demonstrated that progression-free survival was 21% in ELd versus 14% in Ld. Elotuzumab binds a unique epitope on the membrane IgC2 domain of SLAMF7, exhibiting a dual mechanism of action: natural killer (NK) cell-mediated antibody-dependent cellular cytotoxicity (ADCC) and enhancement of NK cell activity...
2018: Mediterranean Journal of Hematology and Infectious Diseases
Zhong-Ling Wei, Cai-Ming Pan, Yi-Zhi Jiang, Yan-Dai, Lai-Quan Huanguang, Dong-Ping Huang
High-dose chemotherapy combined with autologous hematopoietic stem-cell transplantation (ASCT) is the first-line treatment for multiple myeloma. Yet, some patients will relapse. Testicular plasmacytoma which rarely happens can be isolated or associated with progressive multiple myeloma. Here, we report a case of multiple myeloma (MM) undergoing ASCT when the patient obtained complete remission. He developed painless right testicular swelling after nearly 3 years since the ASCT. After radical orchiectomy, histopathology showed diffuse abnormal plasma cells infiltration of the testicular tissue...
January 2018: Annals of Clinical and Laboratory Science
Susanne Ledig, Peter Wieacker
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
Maxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis...
March 9, 2018: BMC Medical Genetics
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Patricia Ramos, Maria Tarilonte, Cristina Villaverde, Luciana Rodrigues Jacy da Silva, Maria Juliana Ballesta-Martínez, Maria Jose Sanchez-Soler, Richard James Holt, Lisa Cooper-Charles, Jonathan Bruty, Yvonne Wallis, Dominic McMullan, Jonathan Hoffman, David Bunyan, Alison Stewart, Helen Stewart, Katherine Lachlan, Alan Fryer, Victoria McKay, Joëlle Roume, Pascal Dureau, Anand Saggar, Michael Griffiths, Patrick Calvas, Carmen Ayuso, Marta Corton, Nicola K Ragge
GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p...
February 20, 2018: Human Genetics
P P Argyris, Z M Slama, K F Ross, A Khammanivong, M C Herzberg
Calprotectin (S100A8/A9), a heterodimeric complex of calcium-binding proteins S100A8 and S100A9, is encoded by genes mapping to the chromosomal locus 1q21.3 of the epidermal differentiation complex. Whereas extracellular calprotectin shows proinflammatory and antimicrobial properties by signaling through RAGE and TLR4, intracytoplasmic S100A8/A9 appears to be important for cellular development, maintenance, and survival. S100A8/A9 is constitutively expressed in myeloid cells and the stratified mucosal epithelia lining the oropharyngeal and genitourinary mucosae...
February 1, 2018: Journal of Dental Research
Yushan Cui, Yang Liu, Danyang Wang, Yuzhang Liu, Lina Liu, Baijun Fang
BACKGROUND: Multiple myeloma (MM) with 1q21 gains invariably has a poor prognosis. Many recent studies have reported the relationship between micro (mi)RNA expression and MM prognosis. However, there is little information on the association between miRNA alterations and 1q21 gains. METHODS: We compared the miRNA expression profiles of MM with 1q21 gains and MM with normal fluorescence in situ hybridisation (FISH) by gene expression array. Differentially expressed miRNAs were identified using Affymetrix TAC software...
February 2, 2018: Acta Haematologica
Li Sun, Yuting Cao, Nagonbilig He, Jianwen Han, Rong Hai, Sarnai Arlud, Baoyindeligeer He, Wurina Wu, Lizhong Li, Xiulan Su, Hongwei Cui, Wenchao Zhao, Buheqiqige Chao, Dandan Liu, Zhiqiang Sun, Yanping Huang
The late cornified envelope (LCE) gene cluster is located on chromosome 1q21, including LCE1-LCE6. Several single nucleotide polymorphisms (SNPs) in the LCE cluster were associated with susceptibility to psoriasis in Chinese population. However, there is no report on the relationship in ethnic minority areas in China. This study aimed to investigate the association between the gene polymorphisms of LCE1B, LCE1C, LCE3A, LCE3D and psoriasis vulgaris among Mongolians from Inner Mongolia. Totally, 305 Mongolians with psoriasis vulgaris (PsV) and 383 healthy controls were enrolled in the study from 2006 to 2015...
February 3, 2018: Archives of Dermatological Research
Ja Min Byun, Dong-Yeop Shin, Junshik Hong, Inho Kim, Hyun Kyung Kim, Dong Soon Lee, Youngil Koh, Sung-Soo Yoon
For risk-adaptive therapeutic approaches in multiple myeloma (MM) treatment, we analyzed treatment outcome according to in situ hybridization (FISH) profiles to investigate the prognostic and predictive values of structural variations in a large series of Asian population. A total of 565 newly diagnosed patients with multiple myeloma between January 2005 and June 2015 were evaluated. FISH results showed del(17p13) in 8.8% (29/331), del(13q14) in 35.5% (184/519), t(14;16) in 2.5% (8/326), t(4;14) in 27.9% (109/390), IgH rearrangement in 47...
January 29, 2018: Cancer Medicine
Ioulia Gourari, Romaine Schubert, Aparna Prasad
No abstract text is available yet for this article.
February 2018: Neurology. Genetics
Jan Smetana, Jan Oppelt, Martin Štork, Luděk Pour, Petr Kuglík
Background: Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype is associated with very poor prognosis. Case presentation: In our case, we report a 62 year female patient with rapid progression of multiple myeloma (MM) into extramedullary disease and short overall survival (OS = 23 months)...
2018: Molecular Cytogenetics
Majid Alfadhel, Marwan Nashabat, Khalid Hundallah, Amal Al Hashem, Ahmed Alrumayyan, Brahim Tabarki
PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE syndrome. Both patients had severe developmental delay, progressive microcephaly, and dysmorphic features. Brain magnetic resonance imaging showed slight thinning in the corpus callosum, mild frontal brain atrophy, and delayed myelination in one of the patients...
2018: Child Neurology Open
Vishal Ashok, Ramya Ranganathan, Smitha Chander, Sharat Damodar, Sunil Bhat, Nataraj K S, Satish Kumar A, Sachin Suresh Jadav, Mahesh Rajashekaraiah, Sundareshan T S
Objectives: Genetic markers are crucial fort diagnostic and prognostic investigation of hematological malignancies (HM). The conventional cytogenetic study (CCS) has been the gold standard for more than five decades. However, FISH (Fluorescence in Situ Hybridization) testing has become a popular modality owing to its targeted approach and the ability to detect abnormalities in non-mitotic cells. We here aimed to compare the diagnostic yields of a FISH panel against CCS in HMs. Methods: Samples of bone marrow and peripheral blood for a total of 201 HMs were tested for specific gene rearrangements using multi-target FISH and the results were compared with those from CCS...
December 29, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
Fan Liu, Yan Chen, Gu Zhu, Pirro G Hysi, Sijie Wu, Kaustubh Adhikari, Krystal Breslin, Ewelina Pospiech, Merel A Hamer, Fuduan Peng, Charanya Muralidharan, Victor Acuna-Alonzo, Samuel Canizales-Quinteros, Gabriel Bedoya, Carla Gallo, Giovanni Poletti, Francisco Rothhammer, Maria Catira Bortolini, Rolando Gonzalez-Jose, Changqing Zeng, Shuhua Xu, Li Jin, André G Uitterlinden, M Arfan Ikram, Cornelia M van Duijn, Tamar Nijsten, Susan Walsh, Wojciech Branicki, Sijia Wang, Andrés Ruiz-Linares, Timothy D Spector, Nicholas G Martin, Sarah E Medland, Manfred Kayser
Shape variation of human head hair shows striking variation within and between human populations, while its genetic basis is far from being understood. We performed a series of genome-wide association studies (GWASs) and replication studies in a total of 28 964 subjects from 9 cohorts from multiple geographic origins. A meta-analysis of three European GWASs identified 8 novel loci (1p36.23 ERRFI1/SLC45A1, 1p36.22 PEX14, 1p36.13 PADI3, 2p13.3 TGFA, 11p14.1 LGR4, 12q13.13 HOXC13, 17q21.2 KRTAP, and 20q13.33 PTK6), and confirmed 4 previously known ones (1q21...
February 1, 2018: Human Molecular Genetics
Aino Salminen, Efthymia Vlachopoulou, Aki S Havulinna, Taina Tervahartiala, Wolfgang Sattler, Marja-Liisa Lokki, Markku S Nieminen, Markus Perola, Veikko Salomaa, Juha Sinisalo, Seppo Meri, Timo Sorsa, Pirkko J Pussinen
BACKGROUND: Matrix metalloproteinase 8 (MMP-8) is a proinflammatory enzyme expressed mainly by neutrophils. Elevated serum and plasma concentrations of MMP-8 are associated with the risk for and outcome of cardiovascular diseases (CVDs). The origin of circulating MMP-8 is not completely clear. METHODS AND RESULTS: We performed a genome-wide association study of serum MMP-8 levels in 2 populations comprising altogether 6049 individuals. Moreover, we studied whether MMP-8-associated variants are linked to increased risk of CVDs and overall mortality in >20 000 subjects...
December 2017: Circulation. Cardiovascular Genetics
Ming-Chin Yu, Chao-Wei Lee, Yun-Shien Lee, Jang-Hau Lian, Chia-Lung Tsai, Yi-Ping Liu, Chun-Hsing Wu, Chi-Neu Tsai
AIM: To identify chromosomal copy number aberrations (CNAs) in early-stage hepatocellular carcinoma (HCC) and analyze whether they are correlated with patient prognosis. METHODS: One hundred and twenty patients with early-stage HCC were enrolled in our study, with the collection of formalin fixed, paraffin-embedded (FFPE) specimens and clinicopathological data. Tumor areas were marked by certified pathologists on a hematoxylin and eosin-stained slide, and cancer and adjacent non-cancerous tissues underwent extraction of DNA, which was analyzed with the Affymetrix OncoScan platform to assess CNAs and loss of heterozygosity (LOH)...
November 28, 2017: World Journal of Gastroenterology: WJG
Jacob Nielsen, Kim Fejgin, Florence Sotty, Vibeke Nielsen, Arne Mørk, Claus T Christoffersen, Leonid Yavich, Jes B Lauridsen, Dorte Clausen, Peter H Larsen, Jan Egebjerg, Thomas M Werge, Pekka Kallunki, Kenneth V Christensen, Michael Didriksen
1q21.1 hemizygous microdeletion is a copy number variant leading to eightfold increased risk of schizophrenia. In order to investigate biological alterations induced by this microdeletion, we generated a novel mouse model (Df(h1q21)/+) and characterized it in a broad test battery focusing on schizophrenia-related assays. Df(h1q21)/+ mice displayed increased hyperactivity in response to amphetamine challenge and increased sensitivity to the disruptive effects of amphetamine and phencyclidine hydrochloride (PCP) on prepulse inhibition...
November 30, 2017: Translational Psychiatry
Sarah N Nattel, Laura Adrianzen, Erica C Kessler, Gregor Andelfinger, Mathieu Dehaes, Gabriel Côté-Corriveau, M Pilar Trelles
Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental disorders (NDDs) and psychiatric conditions. These include cognitive, adaptive, motor, speech, behavioural, and executive functioning deficits, as well as autism spectrum disorder and psychiatric conditions. Structural and functional neuroimaging have demonstrated brain abnormalities in young children with CHD before undergoing surgical repair, likely as a result of an in utero developmental insult. Surgical factors do not seem to play a significant role in neurodevelopmental outcomes...
December 2017: Canadian Journal of Cardiology
X L Liu, L Li, Q L Shi, L J Chen, X X Cao, J Li, A J Liao, D H Zou, J N Sun, S J Gao, W Li, J Hou, F Y Jin
Objective: To evaluate efficacy of the BiRd regimen, a combination of clarithromycin, lenalidomide, and dexamethasone, in the treatment of patients with relapsed/refractory multiple myeloma (RRMM) . Methods: Patients with RRMM treated with BiRd between September 11, 2013 and August 1, 2016 at six centers were included to evaluate overall survival rate (ORR) , clinical benefit rate (CBR) , progression-free survival (PFS) , overall survival (OS) , as well as adverse events. Results: Of 30 patients with RRMM, 27 patients were evaluable, and ORR and CBR were 51...
October 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
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