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https://www.readbyqxmd.com/read/27913427/intermittent-hypoxia-during-recovery-from-neonatal-hyperoxic-lung-injury-causes-long-term-impairment-of-alveolar-development-a-new-rat-model-of-bpd
#1
Anastasiya Mankouski, Crystal Kantores, Mathew J Wong, Julijana Ivanovska, Amish Jain, Eric J Benner, Stanley N Mason, A Keith Tanswell, Richard L Auten, Robert P Jankov
Bronchopulmonary dysplasia (BPD) is a chronic lung injury characterized by impaired alveologenesis that may persist into adulthood. Rat models of BPD using varying degrees of hyperoxia to produce injury either cause early mortality or spontaneously recover following removal of the inciting stimulus, thus limiting clinical relevance. We sought to refine an established rat model induced by exposure to 60% O2 from birth by following hyperoxia with intermittent hypoxia (IH). Rats exposed from birth to air or 60% O2 until day 14 were recovered in air with or without IH (FiO2 = 0...
December 2, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27909807/german-validation-of-the-bidq-s-questionnaire-on-body-image-disturbance-in-idiopathic-scoliosis
#2
Mark Wetterkamp, Meinald T Thielsch, Georg Gosheger, Patrick Boertz, Jan Henrik Terheyden, Tobias L Schulte
PURPOSE: The Body Image Disturbance Questionnaire-Scoliosis (BIDQ-S) is a seven-item questionnaire inquiring into patients' worries about back shape and associated problems at school, at work, with friends or family, and whether the patients are avoiding certain activities. The aim of this study was to translate the BIDQ-S into German (G-BIDQ-S), test its reliability, and establish its convergent, divergent, concurrent, and discriminant validity. METHODS: In a prospective cohort study, 259 patients with idiopathic scoliosis (mean age 30...
December 1, 2016: European Spine Journal
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#3
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27906623/orotate-orotic-acid-an-essential-and-versatile-molecule
#4
M Löffler, E A Carrey, E Zameitat
Orotate (OA) is well-known as a precursor in biosynthesis of pyrimidines; in mammals it is released from the mitochondrial dihydroorotate dehydrogenase (DHODH) for conversion to UMP by the cytoplasmic UMP synthase enzyme. OA is also a normal part of the diet, being found in milk and dairy products, and it is converted to uridine for use in the pyrimidine salvage pathway predominantly in liver, kidney and erythrocytes. Early research into nutrition identified orotate as "vitamin B13," and its use as a complex with organic cations or metal ions was promulgated in body-building, and in assisting therapies of metabolic syndromes...
December 2016: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/27903836/sericin-ameliorated-dysmorphic-mitochondria-in-high-cholesterol-diet-streptozotocin-rat-by-antioxidative-property
#5
Sumate Ampawong, Duangnate Isarangkul, Pornanong Aramwit
Sericin has been implicated in lower cholesterolemic effect due to its properties with several mechanisms. Mitochondria are one of the most important targets to be affected in high blood cholesterol and glucose conditions. The protective role of sericin on mitochondria remains doubtful. To examine this role, electron microscopic, histopathologic, immunohistochemical, and biochemical studies were performed in a high-cholesterol diet/streptozotocin rat model. The results demonstrated that sericin reduced blood cholesterol without hypoglycemic effect...
November 29, 2016: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/27900362/de-novo-phip-predicted-deleterious-variants-are-associated-with-developmental-delay-intellectual-disability-obesity-and-dysmorphic-features
#6
Emily Webster, Megan T Cho, Nora Alexander, Sonal Desai, Sakkubai Naidu, Mir Reza Bekheirnia, Andrea Lewis, Kyle Retterer, Jane Juusola, Wendy K Chung
Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP, have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27899165/cognitive-dysfunction-in-body-dysmorphic-disorder-new-implications-for-nosological-systems-and-neurobiological-models
#7
Kiri Jefferies-Sewell, Samuel R Chamberlain, Naomi A Fineberg, Keith R Laws
: Introduction Body dysmorphic disorder (BDD) is a debilitating disorder, characterized by obsessions and compulsions relating specifically to perceived appearance, and which has been newly classified within the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) Obsessive-Compulsive and Related Disorders grouping. Until now, little research has been conducted into the cognitive profile of this disorder. METHODS: Participants with BDD (n=12) and participants without BDD (n=16) were tested using a computerized neurocognitive battery investigating attentional set-shifting (Intra/Extra Dimensional Set Shift Task), decision-making (Cambridge Gamble Task), motor response-inhibition (Stop-Signal Reaction Time Task), and affective processing (Affective Go-No Go Task)...
November 30, 2016: CNS Spectrums
https://www.readbyqxmd.com/read/27898272/partial-hydatidiform-mole-in-a-phenylketonuria-patient-treated-with-sapropterin-dihydrochloride
#8
Yilmaz Yildiz, Ali Dursun, Aysegul Tokatli, Turgay Coskun, Serap Sivri
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease, microcephaly and intellectual disability, collectively known as maternal PKU syndrome. Sapropterin dihydrochloride (SD), an alternative or adjunct to dietary therapy in patients with tetrahydrobiopterin (BH4)-responsive PKU, has recently been used in several cases to treat PKU during pregnancy with satisfactory results...
November 29, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27888607/catastrophic-cellular-events-leading-to-complex-chromosomal-rearrangements-in-the-germline
#9
REVIEW
Maki Fukami, Hitohito Shima, Erina Suzuki, Tsutomu Ogata, Keiko Matsubara, Tsutomu Kamimaki
Although complex chromosomal rearrangements were thought to reflect the accumulation of DNA damage over time, recent studies have shown that such rearrangements frequently arise from "all-at-once" catastrophic cellular events. These events, designated chromothripsis, chromoanasynthesis, and chromoanagenesis, were first documented in the cancer genome and subsequently observed in the germline. These events likely result from micronucleus-mediated chromosomal shattering and subsequent random reassembly of DNA fragments, although several other mechanisms have also been proposed...
November 26, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27882484/diagnostic-challenge-of-diamond-blackfan-anemia-in-mothers-and-children-by-whole-exome-sequencing
#10
Takuya Ichimura, Kenichi Yoshida, Yusuke Okuno, Toshiaki Yujiri, Kozo Nagai, Masanori Nishi, Yuichi Shiraishi, Hiroo Ueno, Tsutomu Toki, Kenichi Chiba, Hiroko Tanaka, Hideki Muramatsu, Toshiro Hara, Hitoshi Kanno, Seiji Kojima, Satoru Miyano, Etsuro Ito, Seishi Ogawa, Shouichi Ohga
Diamond-Blackfan anemia (DBA) is a pure red cell aplasia that arises from defective ribosomal proteins (RPs). Patients with this rare ribosomopathy present with neonatal anemia and occasional dysmorphism. Clinical heterogeneity and clusters of causative RP genes hamper the diagnosis and perinatal management. We report three mother-and-child pairs of anemia who were finally diagnosed by whole-exome sequencing. Each pair showed distinct disease severity and response to anemia treatment. Only one mother had the diagnostic dysmorphism, including short stature, webbed neck, and thenar hypoplasia...
November 23, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27882258/dysmorphic-facial-features-and-other-clinical-characteristics-in-two-patients-with-pex1-gene-mutations
#11
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
https://www.readbyqxmd.com/read/27880953/deletion-of-top3b-is-associated-with-cognitive-impairment-and-facial-dysmorphism
#12
Carolyn S Kaufman, Ann Genovese, Merlin G Butler
Deletions of different regions of chromosome 22q11 have been extensively characterized in the literature, with a recent review outlining common deletions with a standardized system proposed for classification and nomenclature. The genotype-phenotype relationships have not been sufficiently elucidated for these deletions, and it remains unclear which specific genes play the dominant roles in producing associated clinical features. Several deletions involve entirely distinct regions of chromosome 22q11 but do not overlap, suggesting that a number of different genes contribute to the clinical features...
November 24, 2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27880066/features-of-kat6b-related-disorders-in-a-patient-with-10q22-1q22-3-deletion
#13
Egle Preiksaitiene, Birutė Tumienė, Živilė Maldžienė, Erinija Pranckevičienė, Aušra Morkūnienė, Algirdas Utkus, Vaidutis Kučinskas
BACKGROUND: Blepharophimosis is a fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. It is a rare facial malformation and is considered an important diagnostic feature in dysmorphic analysis. It is likely that many patients with blepharophimosis-mental retardation syndrome have submicroscopic chromosomal rearrangements, and the use of molecular karyotyping can narrow the known blepharophimosis-mental retardation-critical regions or clarify the effect of the haploinsufficiency of the involved genes on the phenotype...
November 23, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27871115/abnormal-proteoglycan-synthesis-due-to-gene-defects-causes-skeletal-diseases-with-overlapping-phenotypes
#14
F Taylan, O Mäkitie
In recent years, massively parallel sequencing technologies have helped us to identify novel disease genes and solve the mysteries behind rare diseases. Today, we know that some diseases with many overlapping and distinct clinical features, as presented in this review, can be caused by mutations in genes that encode enzymes playing crucial roles at different steps of the exact same pathway. In this review, we exclusively focused on 5 genes - XYLT1, XYLT2, B4GALT7, B3GALT6, and B3GAT3 - that encode enzymes involved in the biosynthesis of the common tetrasaccharide linker region of proteoglycans and review the associated diseases, also referred to as linkeropathies, by summarizing the cases reported in literature...
November 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27868373/acute-myeloid-leukemia-in-baraitser-winter-cerebrofrontofacial-syndrome
#15
Paola Cianci, Grazia Fazio, Sara Casagranda, Marco Spinelli, Carmelo Rizzari, Gianni Cazzaniga, Angelo Selicorni
Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part of the same phenotypic spectrum of Baraitser-Winter cerebrofrontofacial syndrome (BWCFF), which is characterized by facial dysmorphism, ocular coloboma, brain malformations, and intellectual disabilities. In addition to that, the recent discovery of missense mutations in one of the two ubiquitously expressed cytoplasmic β- and γ-acting-encoding genes ACTB (7p22...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27868338/incomplete-timothy-syndrome-secondary-to-a-mosaic-mutation-of-the-cacna1c-gene-diagnosed-using-next-generation-sequencing
#16
Amandine Baurand, Sylvie Falcon-Eicher, Gabriel Laurent, Elisabeth Villain, Caroline Bonnet, Christel Thauvin-Robinet, Caroline Jacquot, Jean-Christophe Eicher, Jean-Baptiste Gourraud, Sébastien Schmitt, Stéphane Bézieau, Mathilde Giraud, Solenne Dumont, Paul Kuentz, Vincent Probst, Antoine Burguet, Florence Kyndt, Laurence Faivre
Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features...
November 21, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27867343/park2-microduplication-clinical-and-molecular-characterization-of-a-further-case-and-review-of-the-literature
#17
Orazio Palumbo, Pietro Palumbo, Maria P Leone, Raffaella Stallone, Teresa Palladino, Marcella Vendemiale, Stefano Palladino, Francesco Papadia, Massimo Carella, Rira Fischetto
We report on a patient with psychomotor deficits, language delay, dyspraxia, skeletal anomalies, and facial dysmorphisms (hirsutism, right palpebral ptosis, a bulbous nasal tip with enlarged and anteverted nares, and a mild prominent antihelix stem). Using high-resolution SNP array analysis, we identified a 0.49-Mb microduplication in chromosome 6q26 inherited from the mother involving the PARK2 gene: arr[hg19] 6q26(162,672,821-163,163,143)×3 mat. To the best of our knowledge, this is the third patient to date described in whom a 6q26 microduplication encompassing only the PARK2 gene has been reported in medical literature...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27867341/disorders-of-transcriptional-regulation-an-emerging-category-of-multiple-malformation-syndromes
#18
REVIEW
Kosuke Izumi
Some genetic disorders caused by mutations in genes encoding components of the transcriptional machinery as well as proteins involved in epigenetic modification of the genome share many overlapping features, such as facial dysmorphisms, growth problems and developmental delay/intellectual disability. As a basis for some shared phenotypic characteristics in these syndromes, a similar transcriptome disturbance, characterized by global transcriptional dysregulation, is believed to play a major role. In this review article, a general overview of gene transcription is provided, and the current knowledge of the mechanisms underlying some disorders of transcriptional regulation, such as Rubinstein- Taybi, Coffin-Siris, Cornelia de Lange, and CHOPS syndromes, are discussed...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27866170/measurement-invariance-of-a-body-dysmorphic-disorder-symptom-questionnaire-across-sex-the-body-image-questionnaire-child-and-adolescent-version
#19
Sophie C Schneider, Andrew J Baillie, Jonathan Mond, Cynthia M Turner, Jennifer L Hudson
Measures of body dysmorphic disorder symptoms have received little psychometric evaluation in adolescent samples. This study aimed to examine cross-sex measurement invariance in the Body Image Questionnaire-Child and Adolescent version (BIQ-C) to establish whether observed sex differences in total scores may be meaningful or due to differences in measurement properties. A sample of 3,057 Australian high school students completed the initial screening item of the measure (63.2% male, Mage = 14.58 years, SD = 1...
November 19, 2016: Assessment
https://www.readbyqxmd.com/read/27866048/7p22-1-microduplication-syndrome-refinement-of-the-critical-region
#20
Luisa Ronzoni, Francesca Sofia Grassi, Lidia Pezzani, Arianna Tucci, Marco Baccarin, Susanna Esposito, Donatella Milani
7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, we report on a girl carrying the smallest 7p22.1 microduplication detected to date, contributing to the delineation of the clinical phenotype of the 7p22.1 duplication syndrome and to the refinement of the minimal critical region. Our patient shares several major features of the 7p22.1 duplication syndrome, including craniofacial dysmorphisms and speech and motor delay, but she also presents with renal anomalies...
November 16, 2016: European Journal of Medical Genetics
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