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https://www.readbyqxmd.com/read/29774761/development-of-a-rapid-uplc-ms-ms-determination-of-urine-sulfocysteine-for-diagnosis-of-sulfocysteinuria-and-molybdenum-co-factor-deficiencies
#1
Yi Jiang, Brandon Mistretta, Sarah H Elsea, Qin Sun
AIM: Molybdenum co-factor deficiencies and isolated sulfite oxidase deficiency are rare autosomal recessively inherited diseases characterized by severe psychomotor impairment, intractable seizures, dislocated lens and dysmorphic facial features. The biochemical diagnosis of these diseases requires the determination of urine sulfocysteine. MATERIALS & METHODS: Urine sulfocysteine was quantified by an ultra-high performance liquid chromatography-MS/MS assay. The method was validated for linearity, accuracy, precision, recovery and stability...
May 18, 2018: Bioanalysis
https://www.readbyqxmd.com/read/29762331/rare-location-for-pilonidal-sinus-the-nasal-dorsum
#2
Ayhan Kars, Fatma Atalay, Korhan Kilic, Fatih Bingöl, Yusuf Can
Pilonidal sinuses are recurrent chronic inflammatory lesions which may occur due to penetration of hair particles into skin. Herein, the authors report a pilonidal sinus case that is unusually seen on nasal dorsum and totally excised with the open technique rhinoplasty method. A 20-year-old male patient was admitted to the authors' outpatient clinic with complaints of dysmorphism and discharge from nasal dorsum. Physical examination revealed a swelling in nasal dorsum and hair-containing fistula. Excision was performed with an open rhinoplasty approach...
May 14, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29760779/a-boy-with-developmental-delay-and-mosaic-supernumerary-inv-dup-5-p15-33p15-1-leading-to-distal-5p-tetrasomy-case-report-and-review-of-the-literature
#3
Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova
Background: With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. Simple interstitial duplications leading to trisomies of parts of 5p are much more frequent and better described. Duplications encompassing 5p13.2 cause a defined syndrome with macrocephaly, distinct facial phenotype, heart defects, talipes equinovarus, feeding difficulties, respiratory distress and anomalies of the central nervous system, developmental delay and hypotonia...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760529/de-novo-nonsense-mutation-in-whsc1-nsd2-in-patient-with-intellectual-disability-and-dysmorphic-features
#4
Ekaterina R Lozier, Fedor A Konovalov, Ilya V Kanivets, Denis V Pyankov, Philip A Koshkin, Larisa S Baleva, Alla E Sipyagina, Elena N Yakusheva, Anastasiya E Kuchina, Sergey A Korostelev
Intellectual disability is the most common developmental disorder caused by chromosomal aberrations as well as single-nucleotide variants (SNVs) and small insertions/deletions (indels). Here we report identification of a novel, probably pathogenic mutation in the WHSC1 gene in a patient case with phenotype overlapping the features of Wolf-Hirschhorn syndrome. Deletions involving WHSC1 (Wolf-Hirschhorn syndrome candidate 1 gene) were described earlier in patients with Wolf-Hirschhorn syndrome. However, to our knowledge, single-point mutations in WHSC1 associated with any intellectual deficiency syndromes have not been reported...
May 14, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29754712/to-what-extent-do-clinical-practice-guidelines-respond-to-the-needs-and-preferences-of-patients-diagnosed-with-obsessive-compulsive-disorder
#5
Amelia Villena-Jimena, Clara Gómez-Ocaña, Gisela Amor-Mercado, Amanda Núñez-Vega, José Miguel Morales-Asencio, María Magdalena Hurtado
INTRODUCTION: The number of Clinical Practice Guidelines (CPG) to help in making clinical decisions is increasing. However, there is currently a lack of CPG for Obsessive-Compulsive Disorder that take into account the requirements and expectations of the patients. OBJECTIVE: The aim of the present study was to determine whether recommendations of the NICE guideline, "Obsessive-compulsive disorder: core interventions in the treatment of obsessive-compulsive disorder and body dysmorphic disorder" agrees with the needs and preferences of patients diagnosed with OCD in the mental health service...
April 2018: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/29752777/study-of-ras-mapk-pathway-gene-variants-in-chilean-patients-with-cryptorchidism
#6
F Rodríguez, C Vallejos, D Ponce, N Unanue, M I Hernández, S Célis, K Arcos, F Belmar, M T López, F Cassorla
Cryptorchidism is one of the most common congenital disorders in boys, and several genetic, hormonal, and environmental factors have been proposed as possible causes for this genitourinary defect. Genetic factors have been intensively searched, but relatively few pathogenic variants have been described. Cryptorchidism is a frequent finding in patients with RASopathies, a group of syndrome caused by mutations in genes of the Ras/MAPK pathway. Our aim was to determine whether patients with isolated cryptorchidism (IC) exhibit Ras/MAPK pathway gene variants associated with RASopathies...
May 11, 2018: Andrology
https://www.readbyqxmd.com/read/29751744/a-case-of-raine-syndrome-presenting-with-facial-dysmorphy-and-review-of-literature
#7
Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth, Dhairya Pancholi
BACKGROUND: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Most of the cases result in neonatal death. However, a few non-lethal RS cases have been reported where patients survive till adulthood and exhibits a heterogeneous clinical phenotype...
May 11, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29751260/forkhead-box-c1-gene-variant-causing-glaucoma-and-small-vessel-angiopathy-can-mimic-multiple-sclerosis
#8
Jagannadha R Avasarala, Julie R Jones, Curtis R Rogers
A 34-year old Caucasian female was initially diagnosed with multiple small-vessel strokes at age 20 years which were etiologically classified as secondary to anti-phospholipid antibody syndrome (APS) although she had no history or laboratory data to suggest APS. Based on her MRI of brain findings, one of her neurologists was concerned she could have multiple sclerosis (MS) and hence the patient was referred to our clinic for further evaluation. The patient's MRI of brain showed confluent lesions in the periventricular and juxta-cortical lesions that fulfil 2017 McDonald criteria for dissemination in space...
April 21, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29747568/classical-fragile-x-phenotype-in-a-female-infant-disclosed-by-comprehensive-genomic-studies
#9
Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano, Rosário Santos
BACKGROUND: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities. CASE PRESENTATION: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history...
May 10, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29746415/histology-of-geographic-atrophy-secondary-to-age-related-macular-degeneration-a-multilayer-approach
#10
Miaoling Li, Carrie Huisingh, Jeffrey Messinger, Rosa Dolz-Marco, Daniela Ferrara, K Bailey Freund, Christine A Curcio
PURPOSE: To systematically characterize histologic features of multiple chorioretinal layers in eyes with geographic atrophy, or complete retinal pigment epithelium (RPE) and outer retinal atrophy, secondary to age-related macular degeneration, including Henle fiber layer and outer nuclear layer; and to compare these changes to those in the underlying RPE-Bruch membrane-choriocapillaris complex and associated extracellular deposits. METHODS: Geographic atrophy was delimited by the external limiting membrane (ELM) descent towards Bruch membrane...
May 3, 2018: Retina
https://www.readbyqxmd.com/read/29746007/preterm-growth-restriction-and-bronchopulmonary-dysplasia-the-vascular-hypothesis-and-related-physiology
#11
Arvind Sehgal, Stella M Gwini, Samuel Menahem, Beth J Allison, Suzanne L Miller, Graeme R Polglase
KEY POINTS: Approximately 5-10% pregnancies are affected by fetal growth restriction. Preterm infants affected by fetal growth restriction have a higher incidence of bronchopulmonary dysplasia. This study is the first to measure pulmonary artery thickness and stiffness. It highlights that impaired vasculogenesis may be a contributory factor in the higher incidence of bronchopulmonary dysplasia in preterm growth restricted infants. The study addresses the mechanistic link between fetal programming and vascular architecture and mechanics...
May 10, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29744085/bleachorexia-an-addictive-behavior-to-tooth-bleaching-a-case-report
#12
Denzel Kun-Tsung Lee, Cameron Kastl, Daniel C N Chan
Bleachorexia, addiction to tooth bleaching, is a behavioral disorder similar to anorexia. The patient feels that their teeth are always not white enough and continues to use whiteners to obtain a "perfect" smile. Such behavior falls under the category of a body dysmorphic disorder and may need medical counseling.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29741580/nonsurgical-medical-penile-girth-augmentation-a-retrospective-study-of-psychological-and-psychosexual-outcomes
#13
Gemma Sharp, Jayson Oates
Background: Although interest in penile augmentation procedures is increasing, there is a significant lack of research into the psychological and psychosexual outcomes of these procedures. Objectives: To investigate the psychological and psychosexual outcomes of nonsurgical medical penile girth augmentation. Methods: This retrospective study involved a mixed method approach. Twenty-five men who had undergone a nonsurgical medical penile girth augmentation between 1 and 12 months prior (mean, 6...
May 8, 2018: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/29740943/vanishing-white-matter-a-leukodystrophy-due-to-astrocytic-dysfunction
#14
Marianna Bugiani, Caroline Vuong, Marjolein Breur, Marjo S van der Knaap
VWM is one of the most prevalent leukodystrophies with unique clinical, pathological and molecular features. It mostly affects children, but may develop at all ages, from birth to senescence. It is dominated by cerebellar ataxia and susceptible to stresses that act as factors provoking disease onset or episodes of rapid neurological deterioration possibly leading to death. VWM is caused by mutations in any of the genes encoding the five subunits of the eukaryotic translation initiation factor 2B (eIF2B). Although eIF2B is ubiquitously expressed, VWM primarily manifests as a leukodystrophy with increasing white matter rarefaction and cystic degeneration, meager astrogliosis with no glial scarring and dysmorphic immature astrocytes and increased numbers of oligodendrocyte progenitor cells that are restrained from maturing into myelin-forming cells...
May 2018: Brain Pathology
https://www.readbyqxmd.com/read/29740699/de-novo-mutations-in-med13-a-component-of-the-mediator-complex-are-associated-with-a-novel-neurodevelopmental-disorder
#15
Lot Snijders Blok, Susan M Hiatt, Kevin M Bowling, Jeremy W Prokop, Krysta L Engel, J Nicholas Cochran, E Martina Bebin, Emilia K Bijlsma, Claudia A L Ruivenkamp, Paulien Terhal, Marleen E H Simon, Rosemarie Smith, Jane A Hurst, Heather McLaughlin, Richard Person, Amy Crunk, Michael F Wangler, Haley Streff, Joseph D Symonds, Sameer M Zuberi, Katherine S Elliott, Victoria R Sanders, Abigail Masunga, Robert J Hopkin, Holly A Dubbs, Xilma R Ortiz-Gonzalez, Rolph Pfundt, Han G Brunner, Simon E Fisher, Tjitske Kleefstra, Gregory M Cooper
Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders...
May 8, 2018: Human Genetics
https://www.readbyqxmd.com/read/29739404/a-child-with-multiple-congenital-anomalies-due-to-partial-trisomy-7q22-1-%C3%A2-qter-resulting-from-a-maternally-inherited-balanced-translocation-a-case-report-and-review-of-literature
#16
C S Paththinige, N D Sirisena, U G I U Kariyawasam, R C Ediriweera, P Kruszka, M Muenke, V H W Dissanayake
BACKGROUND: Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations...
May 8, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/29737035/systemic-lupus-erythematosus-in-a-patient-with-noonan-syndrome-like-disorder-with-loose-anagen-hair-1-more-than-a-chance-association
#17
Tomoko Uehara, Naoki Hosogaya, Nobutake Matsuo, Kenjiro Kosaki
Systemic lupus erythematosus (SLE) has been reported among patients with RASopathy. Five patients have been reported: three with SHOC2 variants, one with a PTPN11 variant, and one with a KRAS variant. SHOC2 variant might represent a relatively common predisposing factor for SLE among the RASopathy genes. However, the clinical details were only reported for two patients, while information on the remaining patient appeared only in a tabular format with minimal clinical description. Here, we report a patient with a SHOC2 variant and SLE...
May 7, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29728193/2q24-deletion-in-a-9-month-old-girl-with-anal-atresia-hearing-impairment-and-hypotonia
#18
Peiwei Zhao, Bing Mao, Xiaonan Cai, Jun Jiang, Zhisheng Liu, Jun Lin, Xuelian He
Deletion of 2q24.2 is a rare cytogenetic aberration in patients, exhibiting heterogeneous clinical features, and common phenotypes included developmental delay, intellectual disability, hypotonia, and mild dysmorphic features. Hearing impairment and anal atresia are rarely described. Here we described a 9-month-old female patient with hypotonia in all four limbs, developmental delay, and intellectual disability. In addition, congenital anal atresia was diagnosed and treated after birth, and hearing impairment was found in right ear...
June 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29726930/functional-variants-in-tbx2-are-associated-with-a-syndromic-cardiovascular-and-skeletal-developmental-disorder
#19
Ning Liu, Kelly Schoch, Xi Luo, Loren Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen Deak, Marie T McDonald, Allyn McConkie-Rosell, M Louise Markert, Peter G Kranz, Nicholas Stong, Anna C Need, David Bick, Michelle D Amaral, Elizabeth A Worthey, Shawn Levy, Michael F Wangler, Hugo J Bellen, Shashi Vandana, Shinya Yamamoto
The seventeen genes of the T-box family are transcriptional regulators that are involved in all stages of embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many of the T-box genes. For example, haploinsufficiency of TBX1 is responsible for many structural malformations in DiGeorge syndrome caused by a chromosome 22q11.2 deletion. We report four individuals with an overlapping spectrum of craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments, reminiscent of DiGeorge syndrome, who are heterozygotes for TBX2 variants...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29725259/expanding-the-oro-dental-and-mutational-spectra-of-kabuki-syndrome-and-expression-of-kmt2d-and-kdm6a-in-human-tooth-germs
#20
Thantrira Porntaveetus, Mushriq F Abid, Thanakorn Theerapanon, Chalurmpon Srichomthong, Atsushi Ohazama, Katsushige Kawasaki, Maiko Kawasaki, Kanya Suphapeetiporn, Paul T Sharpe, Vorasuk Shotelersuk
Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, intellectual disability, and multiple developmental abnormalities. Despite more than 350 documented cases, the oro-dental spectrum associated with kabuki syndrome and expression of KMT2D (histone-lysine N-methyltransferase 2D) or KDM6A (lysine-specific demethylase 6A) genes in tooth development have not been well defined. Here, we report seven unrelated Thai patients with Kabuki syndrome having congenital absence of teeth, malocclusion, high-arched palate, micrognathia, and deviated tooth shape and size...
2018: International Journal of Biological Sciences
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