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https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#1
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544660/altered-secretion-of-sertoli-cells-hormones-in-2-year-old-prepubertal-cryptorchid-boys-a-cross-sectional-study
#2
S M Hamdi, T Almont, P Galinier, R Mieusset, P Thonneau
In cryptorchid boys, failures in germ cell development have been clearly established. Some studies reported some abnormalities in Sertoli cells morphology but the results regarding their endocrine secretion remain controversial. To compare testicular hormone levels in young boys with and without cryptorchidism, we performed a cross-sectional hospital-based study. From surgery appointment records, we identified a case group of boys with unilateral or bilateral cryptorchidism and a control group undergoing dental care, minor osteoarticular or dermal surgery...
May 23, 2017: Andrology
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#3
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544249/37th-annual-david-w-smith-workshop-on-malformations-and-morphogenesis-abstracts-of-the-2016-annual-meeting
#4
Kim M Keppler-Noreuil, Julian A Martinez-Agosto, Louanne Hudgins, John C Carey
The 37th Annual David W. Smith Workshop on Malformations and Morphogenesis occurred on September 9th-14th, 2016 at the University of California-Los Angeles Conference Center in Lake Arrowhead, CA. The Workshop, which honors the legacy of David W. Smith, brought together clinicians and researchers interested in congenital malformations and their underlying mechanisms of morphogenesis. The Workshop highlighted five themes besides mechanisms of morphogenesis and New Syndromes: Neural Crestopathies, Mosaicism, Disorders of Skin Pigmentation, Therapies, and Ear Malformations and Hearing Loss...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28543917/a-novel-pgm3-mutation-is-associated-with-a-severe-phenotype-of-bone-marrow-failure-severe-combined-immunodeficiency-skeletal-dysplasia-and-congenital-malformations
#5
Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bauron Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia and exome sequencing has led to the identification of new CDG genes . Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein which converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1219T > C; p...
May 22, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28541482/transsylvian-transanterior-sulcus-approach-to-basal-ganglia-cavernous-malformations
#6
M Yashar S Kalani, Kaan Yagmurlu, Nikolay L Martirosyan, Robert F Spetzler
No abstract text is available yet for this article.
May 25, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28540347/interdisciplinary-management-of-head-and-neck-vascular-anomalies-clinical-presentation-diagnostic-findings-and-minimalinvasive-therapies
#7
REVIEW
Maliha Sadick, Walter A Wohlgemuth, Roland Huelse, Bettina Lange, Thomas Henzler, Stefan O Schoenberg, Haneen Sadick
OBJECTIVES: Vascular anomalies are included in the 30 000 rare diseases worldwide affecting less than 5/10 000 people. Depending on their morphology and biological properties, they can cause varied disorders with organ involvement. Almost 60% of vascular anomalies have a predilection for the head and neck region in children. Clinical and scientific effort to establish interdisciplinary management concepts for vascular anomalies is increasing worldwide. METHODS: Especially in the head and neck region, clinical impairment and organ dysfunction is associated with cosmetic issues that may represent a physical and psychological issue for the patient...
2017: European Journal of Radiology Open
https://www.readbyqxmd.com/read/28540253/craniocervical-junction-abnormalities-with-atlantoaxial-subluxation-caused-by-ventral-subluxation-of-c2-in-a-dog
#8
Harumichi Itoh, Kazuhito Itamoto, Shotaro Eto, Tomoya Haraguchi, Shimpei Nishikawa, Kenji Tani, Yoshiki Itoh, Masato Hiyama, Toshie Iseri, Munekazu Nakaichi, Yasuho Taura
Craniocervical junction abnormalities with atlantoaxial subluxation caused by ventral subluxation of C2 were diagnosed in a 6-month-old female Pomeranian with tetraplegia as a clinical sign. Lateral survey radiography of the neck with flexion revealed atlantoaxial subluxation with ventral subluxation of C2. Computed tomography revealed absence of dens and atlanto-occipital overlapping. Magnetic resonance imaging showed compression of the spinal cord and indentation of caudal cerebellum. The diagnosis was Chiari-like malformation, atlantoaxial subluxation with ventral displacement of C2, atlanto-occipital overlapping, and syringomyelia...
2017: Open veterinary journal
https://www.readbyqxmd.com/read/28540119/a-case-of-a-cerebral-cavernous-malformation-of-the-third-ventricle-that-caused-the-syndrome-of-inappropriate-secretion-of-antidiuretic-hormone
#9
Takahiro Sasaki, Nobuhide Hayashi, Nagatsuki Tomura, Eisaku Tsuji, Hideo Okada, Toshikazu Kuwata
BACKGROUND: Cerebral cavernous malformations (CCMs, also known as cavernous hemanigiomas) of the third ventricle are uncommon. Here, we present a rare case of a CCM that caused the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). CASE DESCRIPTION: A 68-year-old man presented with acute-onset cognitive and memory disturbance. Endocrinological examinations revealed hyponatremia due to SIADH. Computed tomography indicated a high-density mass in the third ventricle that caused left unilateral hydrocephalus due to obstruction of the foramen Monroe...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28540107/a-prospective-study-of-spectrum-risk-factors-and-immediate-outcome-of-congenital-anomalies-in-bida-north-central-nigeria
#10
Man Adeboye, M B Abdulkadir, O A Adegboye, A O Saka, P D Oladele, D M Oladele, E C Eze, O O Adeyemi, U Abubakar, A Grace, B F Rotimi
BACKGROUND: Congenital disorders are structural, metabolic, behavioral and functional disorders that are present at birth. Their manifestations are protean ranging from mild anomalies to life-threatening conditions. AIM: The objectives of this study were to describe the congenital anomalies in children seen at Federal Medical Center, Bida over a 12 month period, determine possible factors associated with these anomalies; and their short term outcome. SUBJECTS AND METHODS: Children with clinically recognized congenital malformations were recruited consecutively over a 12 month period and socio-demographic, etiologic and other relevant clinical data were obtained...
November 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28539665/copy-number-variants-and-candidate-gene-mutations-in-isolated-split-hand-foot-malformation
#11
Tonia C Carter, Robert J Sicko, Denise M Kay, Marilyn L Browne, Paul A Romitti, Zoё L Edmunds, Aiyi Liu, Ruzong Fan, Charlotte M Druschel, Michele Caggana, Lawrence C Brody, James L Mills
Split hand/foot malformation (SHFM) is a congenital limb deficiency with missing or shortened central digits. Some SHFM genes have been identified but the cause of many SHFM cases is unknown. We used single-nucleotide polymorphism (SNP) microarray analysis to detect copy-number variants (CNVs) in 25 SHFM cases without other birth defects from New York State (NYS), prioritized CNVs absent from population CNV databases, and validated these CNVs using quantitative real-time polymerase chain reaction (qPCR). We tested for the validated CNVs in seven cases from Iowa using qPCR, and also sequenced 36 SHFM candidate genes in all the subjects...
May 25, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28539259/congenital-anomalies-in-tunisia-frequency-and-risk-factors
#12
Meriem Aloui, Kaouther Nasri, Abdel Majid Ben Hamida, Raja Marrakchi, Soumeya Siala Gaïgi
BACKGROUND: Despite the high risk of recurrence of congenital malformations, there are no well-accepted preventive measures in developing countries like Tunisia. It is recommended that thorough epidemiological studies of congenital anomalies in this country are needed. The aim of this study is to assess the frequency and types of congenital anomalies in Tunisia and research some risk factors associated with occurrence of these anomalies. METHODS: In this retrospective study, all the fetuses who were autopsied during 21 years period from February 1991 to December 2011 (N=9678) at service of embryofetopathology in the Center of Maternity and Neonatology of Tunis (CMNT) were studied...
May 21, 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28539208/birth-weight-length-and-head-circumference-progression-and-impact-over-the-outcome-of-patients-with-congenital-heart-disease
#13
Daniélle Bernardi Silveira, Ernani Bohrer da Rosa, Jamile Dutra Correia, Patrícia Trevisan, Marilu Fiegenbaum, Ceres Andréia Oliveira, Carolina Geitens Grapiglia, Mauricio Rouvel Nunes, Rosana Cardoso Manique Rosa, Tatiana Diehl Zen, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa
BACKGROUND: There are few studies assessing the birth measures of patients with congenital heart disease (CHD). Our aim to evaluate their progression and impact over the outcome. METHODS: The cases consisted of patients with CHD during their first hospitalization in a reference cardiac and pediatric intensive care unit (ICU) from Southern Brazil. Controls were composed of patients with no clinical evidence of CHD hospitalized soon after cases. The cases underwent high-resolution karyotype and fluorescence in situ hybridization (FISH) for 22q11 microdeletion...
May 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28538230/the-first-case-of-kernohan-woltman-notch-phenomenon-caused-by-epidural-hematoma-in-a-pediatric-patient
#14
Sait Ozturk, Yasar Ozturk, Ozgur Ocal
Kernohan-Woltman notch phenomenon (KWNP) is an ipsilateral motor weakness due to compression of the contralateral cerebral peduncle. Most of the KWNP cases reported have been due to subdural hematomas, intracranial space-occupying lesions, and spontaneous bleeding of vascular malformations. In this study, we present the first pediatric case of KWNP caused by a traumatic epidural hematoma. Although subdural hematomas are the most frequent reason for KWNP, epidural hematomas may cause paradoxical ipsilateral signs not only in adults but also in pediatric patients...
May 25, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#15
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28537946/gastrointestinal-manifestations-of-pelvic-floor-disorders-in-adolescents-a-diagnostic-framework-for-the-general-practitioner
#16
Anita Kochikar Pai, Sonia Arora Ballal
PURPOSE OF REVIEW: Pelvic floor disorders (PFDs) can present with gastrointestinal complaints in the adolescent patient, and identification of PFDs is aided by clues in the history and physical examination apparent to the knowledgeable clinician. The aim of this article is to provide a framework for the diagnostic evaluation of the adolescent patient with a PFD and introduce management strategies. RECENT FINDINGS: Patients with PFDs can present with gastrointestinal symptoms, including abdominal pain, constipation, incomplete evacuation, and fecal incontinence or nongastrointestinal complaints around genitourinary symptoms or sexual health...
May 19, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28537936/zidovudine-use-in-pregnancy-and-congenital-malformations-meta-analysis-and-bayesian-incorporation-of-medicaid-data
#17
Kathryn Rough, Jenny W Sun, George R Seage, Paige L Williams, Krista F Huybrechts, Brian T Bateman, Sonia Hernandez-Diaz
OBJECTIVE: There is inconsistent evidence that zidovudine use during pregnancy increases overall, cardiac, and male genital malformations. DESIGN: We conducted a systematic review and meta-analysis of zidovudine use and malformations and, using Bayesian methods, combined it with data from a cohort study of mother-infant pairs in the nationwide Medicaid Analytic eXtract (MAX). METHODS: Using MAX data (2000-2010), we identified pregnant women with HIV treated with antiretroviral therapy (ART)...
May 23, 2017: AIDS
https://www.readbyqxmd.com/read/28537687/the-effect-of-optimizing-eabr-parameters-in-artificial-cochlear-implantation-for-auditory-rehabilitation
#18
H-L Yang, Z Liu
OBJECTIVE: The objective of the present study was to observe the relationship between V extraction rate and threshold value of electrically evoked auditory brainstem response (EABR) waves in artificial cochlear implantation, in order to optimize EABR parameters for improving auditory rehabilitation. PATIENTS AND METHODS: Thirty patients without residual hearing and treated with artificial cochlear implants were selected. The experimental group included 17 cases with normal cochlear morphology, four with large vestibular aqueduct syndrome (LVAS), six with Mondini malformation, and three with internal auditory canal stenosis...
May 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28537458/chiari-i-malformation-in-children-with-transverse-myelitis
#19
Sathya Vadivelu, Sudhakar Vadivelu, Maureen Mealy, Smurti Patel, Libby Kosnik-Infinger, Daniel Becker
PURPOSE: Transverse myelitis (TM) is an acute inflammatory spinal cord injury. Asymptomatic Chiari I malformation (CMI) management is highly controversial, particularly when associated with a spinal syrinx. Here, we assess the occurrence of CMI in the pediatric TM population and management outcomes. METHODS: We performed a retrospective cohort study based on 61 consecutively identified pediatric TM cases over an -8-year period. We reviewed demographic characteristics, radiographic findings, presenting symptoms, and long-term outcomes...
May 24, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28537352/is-pseudotumor-cerebri-an-unusual-expression-of-chiari-syndrome-a-case-report-and-review-of-the-literature
#20
Paolo Pacca, Roberto Altieri, Francesco Zenga, Diego Garbossa, Alessandro Ducati, Michele Lanotte
The Chiari I malformation (CM-I) is a developmental alteration of the posterior cranial fossa (PCF), radiographically defined as the descent of the cerebellar tonsils = 5 mm below the foramen magnum (FM) inside the cervical canal. Headache is the most frequent symptom associated with CM-I. The association of CM-I and neurological symptoms configures with Chiari syndrome. A rare symptom associated with Chiari syndrome is intracranial hypertension syndrome with cephalea and papilloedema-the typical findings of pseudotumor cerebri (PTC)...
May 24, 2017: Surgical Technology International
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