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https://www.readbyqxmd.com/read/28938441/canonical-wnt-signaling-regulates-the-pituitary-organizer-and-pituitary-gland-formation
#1
Allison M Osmundsen, Jessica L Keisler, M Mark Taketo, Shannon W Davis
The pituitary organizer is a domain within the ventral diencephalon that expresses Bmp4, Fgf8, and Fgf10, which induces the formation of the pituitary precursor, Rathke's pouch, from the oral ectoderm. The WNT signaling pathway regulates this pituitary organizer such that loss of Wnt5a leads to an expansion of the pituitary organizer and an enlargement of Rathke's pouch. WNT signaling is classified into canonical signaling, which is mediated by β-CATENIN, and non-canonical signaling, which operates independently of β-CATENIN...
August 16, 2017: Endocrinology
https://www.readbyqxmd.com/read/28938321/the-pierre-robin-mandible-is-hypoplastic-and-morphologically-abnormal
#2
Elizabeth G Zellner, Russell R Reid, Derek M Steinbacher
BACKGROUND: For Pierre Robin sequence (PRS) patients, there is incomplete characterization of 3D differences and effects of mandibular distraction osteogenesis (MDO) on the mandible compared to normal controls. METHODS: PRS infants who underwent MDO at 2 craniofacial referral centerals with pre- and postoperative computed tomography (CT) scans were identified. A group of age-matched control patients with CTs were identified in the PACS database. Demographic and perioperative data were recorded...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28937085/galloway-mowat-syndrome-unusual-form-of-nephrotic-syndrome-in-adolescent
#3
G Diwakar Naidu, Pathapati Deepthi, K RajaKarthik, S Sriram, G Swarnalatha, T Gangadhar
Galloway-Mowat syndrome (GMS), also acknowledged as Microcephaly-Hiatal hernia nephrotic syndrome, is an uncommon genetic disorder inherited as an autosomal recessive trait usually seen before two years of life. It is an exceptional multisystem genetic disorder with a collection of skeletal, neurological, facial, gastrointestinal, growth, and renal abnormalities. This case report describes GMS in a girl, suffering from developmental delay, stunted growth, and various dysmorphic features, in whom nephrotic syndrome became apparent at adolescent age...
September 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28933030/phenotype-comparison-confirms-zmynd11-as-a-critical-gene-for-10p15-3-microdeletion-syndrome
#4
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies...
September 21, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28932956/time-lapse-imaging-provides-further-evidence-that-planar-arrangement-of-blastomeres-is-highly-abnormal
#5
Thomas Ebner, Alexandra Höggerl, Peter Oppelt, Elisabeth Radler, Simon-Hermann Enzelsberger, Richard B Mayer, Erwin Petek, Omar Shebl
PURPOSE: Recently, guidelines on the annotation of dynamic human embryo monitoring recommended screening for the presence of planar blastomere arrangement at the 4-cell stage. This observational study was set up in order to analyze whether developmental kinetics of planar human embryos are different from tetrahedral ones. METHODS: Therefore, embryos of 115 consecutive ICSI patients (showing 32 planar and 554 tetrahedral embryos) were cultured in a new time-lapse system (Miri TL) and their embryos were annotated for morphokinetic development and screened for irregular cleavages and morphological dysmorphisms...
September 20, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28932931/usefulness-of-zebrafish-larvae-to-evaluate-drug-induced-functional-and-morphological-renal-tubular-alterations
#6
Rita Gorgulho, Raquel Jacinto, Susana S Lopes, Sofia A Pereira, Erin M Tranfield, Gabriel G Martins, Emilio J Gualda, Rico J E Derks, Ana C Correia, Evelyne Steenvoorden, Petra Pintado, Oleg A Mayboroda, Emilia C Monteiro, Judit Morello
Prediction and management of drug-induced renal injury (DIRI) rely on the knowledge of the mechanisms of drug insult and on the availability of appropriate animal models to explore it. Zebrafish (Danio rerio) offers unique advantages for assessing DIRI because the larval pronephric kidney has a high homology with its human counterpart and it is fully mature at 3.5 days post-fertilization. Herein, we aimed to evaluate the usefulness of zebrafish larvae as a model of renal tubular toxicity through a comprehensive analysis of the renal alterations induced by the lethal concentrations for 10% of the larvae for gentamicin, paracetamol and tenofovir...
September 20, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#7
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#8
Anila Babameto-Laku, Dorina Roko, Gentian Vyshka
AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies...
August 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28929987/cell-and-genetic-predictors-of-human-blastocyst-hatching-success-in-assisted-reproduction
#9
Anastasiya G Syrkasheva, Nataliya V Dolgushina, Andrey Yu Romanov, Olga V Burmenskaya, Nataliya P Makarova, Espet O Ibragimova, Elena A Kalinina, Gennady T Sukhikh
The aim was to identify cell and genetic predictors of human blastocyst hatching success in assisted reproduction programmes via a prospective case-control study. Blastocysts, donated by couples in assisted reproduction programmes were used. Hatching success assessment was performed after 144-146 h post-fertilization. The mRNA expression levels of cathepsin V (CTSV), GATA-binding protein 3 (GATA3) and human chorionic gonadotropin beta subunit 3, 5, 7 and 8 (CGB) genes were detected by quantitative real-time polymerase chain reaction...
September 20, 2017: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/28912834/molecular-and-clinical-characterization-of-new-patient-with-1-08%C3%A2-mb-deletion-in-10p15-3-region
#10
Anna Poluha, Joanna Bernaciak, Ilona Jaszczuk, Marta Kędzior, Beata Anna Nowakowska
BACKGROUND: Three distinct contiguous gene deletion syndromes are located at 10p chromosomal region. The deletion, involving 10p15.3 region, has been characterized by (DeScipio et al., Am J Med Genet A 158A:2152-61, 2012). However, because of the variation in size of the described deletions and lack of knowledge about the involved genes, the correlation between genotypes and patients' phenotypes remains unknown. CASE PRESENTATION: We describe female patient with de novo 1,08 Mb deletion in 10p15...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28912677/reversible-axonal-dystrophy-by-calcium-modulation-in-frataxin-deficient-sensory-neurons-of-yg8r-mice
#11
Belén Mollá, Diana C Muñoz-Lasso, Fátima Riveiro, Arantxa Bolinches-Amorós, Federico V Pallardó, Angel Fernandez-Vilata, María de la Iglesia-Vaya, Francesc Palau, Pilar Gonzalez-Cabo
Friedreich's ataxia (FRDA) is a peripheral neuropathy involving a loss of proprioceptive sensory neurons. Studies of biopsies from patients suggest that axonal dysfunction precedes the death of proprioceptive neurons in a dying-back process. We observed that the deficiency of frataxin in sensory neurons of dorsal root ganglia (DRG) of the YG8R mouse model causes the formation of axonal spheroids which retain dysfunctional mitochondria, shows alterations in the cytoskeleton and it produces impairment of axonal transport and autophagic flux...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28905509/de-novo-setd5-loss-of-function-variant-as-a-cause-for-intellectual-disability-in-a-10-year-old-boy-with-an-aberrant-blind-ending-bronchus
#12
Claire Green, Joshua Willoughby, Meena Balasubramanian
Although rare, 3p microdeletion cases have been well described in the clinical literature. The clinical phenotype includes; intellectual disability (ID), growth retardation, facial dysmorphism, and cardiac malformations. Advances in chromosome microarray (CMA) testing narrowed the 3p25 critical region to a 124 kb region, and recent Whole Exome Sequencing (WES) studies have suggested that the SETD5 gene contributes significantly to the 3p25 phenotype. Loss-of-Function (LoF) variants in SETD5 are now considered a likely cause of ID...
September 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28902392/expanding-the-clinical-and-molecular-spectrum-of-prmt7-mutations-three-additional-patients-and-review
#13
Emanuele Agolini, Maria Lisa Dentici, Emanuele Bellacchio, Viola Alesi, Francesca Clementina Radio, Annalaura Torella, Francesco Musacchia, Marco Tartaglia, Bruno Dallapiccola, Vincenzo Nigro, Maria Cristina Digilio, Antonio Novelli
Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, seven patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures)...
September 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28901431/isolated-chromosome-8p23-2%C3%A2-pter-deletion-novel-evidence-for-developmental-delay-intellectual-disability-microcephaly-and-neurobehavioral-disorders
#14
Shanshan Shi, Shaobin Lin, Baojiang Chen, Yi Zhou
The current study presents a patient carrying a de novo ~6 Mb deletion of the isolated chromosome 8p23.2‑pter that was identified with a single‑nucleotide polymorphism array. The patient was characterized by developmental delay (DD)/intellectual disability (ID), microcephaly, autism spectrum disorder, attention‑deficit/hyperactivity disorders and mildly dysmorphic features. The location, size and gene content of the deletion observed in this patient were compared with those in 7 patients with isolated 8p23...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#15
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900819/a-homozygous-pigo-mutation-associated-with-severe-infantile-epileptic-encephalopathy-and-corpus-callosum-hypoplasia-but-normal-alkaline-phosphatase-levels
#16
Yoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, Yonatan Sapir, Luci Zalman, Ilana Chervinsky, Markus Schuelke, Rachel Straussberg, Ronen Spiegel
We describe two sisters from a consanguineous Arab family with global developmental delay, dystrophy, axial hypotonia, epileptic encephalopathy dominated by intractable complex partial seizures that were resistant to various anti-epileptic treatments. Dysmorphic features comprised low set ears, hypertelorism, upslanting palpebral fissures, a broad nasal bridge, and blue sclera with elongated eyelashes. Brain MRI in both children showed a corpus callosum hypoplasia that was evident already in utero and evolving cortical atrophy...
September 13, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28893644/high-bone-mass-due-to-novel-lrp5-and-amer1-mutations
#17
Alice Costantini, Päivi Kekäläinen, Riikka E Mäkitie, Outi Mäkitie
WNT signaling is a key regulator of bone metabolism and its increased or decreased activity leads to skeletal disorders. Here we describe two patients with high bone mass (HBM) caused by novel mutations in two different WNT pathway components. The first patient is a 53-year-old male with HBM. He was diagnosed at adult age based on significantly increased bone mineral density (BMD). He has undergone several surgeries due to excessive bone in ear canals, bilateral jaw exostoses and mandibular tori. Radiographs show severe cortical thickening of cranial and long bones...
September 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28893434/biallelic-mutations-in-szt2-cause-a-discernible-clinical-entity-with-epilepsy-developmental-delay-macrocephaly-and-a-dysmorphic-corpus-callosum
#18
Yuji Nakamura, Yasuko Togawa, Yusuke Okuno, Hideki Muramatsu, Kazuhiko Nakabayashi, Yoko Kuroki, Daisuke Ieda, Ikumi Hori, Yutaka Negishi, Takao Togawa, Ayako Hattori, Seiji Kojima, Shinji Saitoh
Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum...
September 8, 2017: Brain & Development
https://www.readbyqxmd.com/read/28891676/pornography-use-in-sexual-minority-males-associations-with-body-dissatisfaction-eating-disorder-symptoms-thoughts-about-using-anabolic-steroids-and-quality-of-life
#19
Scott Griffiths, Deborah Mitchison, Stuart B Murray, Jonathan M Mond
OBJECTIVE: We examined two hypotheses regarding the potential association of pornography use with body image-related and eating disorder-related psychopathology among sexual minority males (i.e. non-heterosexual males). Our primary hypothesis was that pornography use would be associated with males' body dissatisfaction, eating disorder symptoms, thoughts about using anabolic steroids and quality of life impairment; our secondary hypothesis was that the type of pornography, namely, professional versus amateur pornography, which contains idealised and non-idealised (i...
September 1, 2017: Australian and New Zealand Journal of Psychiatry
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#20
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
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