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https://www.readbyqxmd.com/read/29668117/development-of-molecular-therapies-for-venous-malformations
#1
Jaakko Kangas, Marjut Nätynki, Lauri Eklund
Vascular anomalies are localized defects of morphogenesis that can affect lymphatic and blood vessels. They are generally called birthmarks, typically observed soon after birth and occurring in up to 10% of children. Based on their clinical and histological characteristics, they are classified into vascular tumours and vascular malformations. The most common malformations are venous malformations (VMs) resulting in chronic vascular diseases that can be associated with significant morbidity necessitating often demanding and repeating clinical management...
April 18, 2018: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/29667705/intellectual-disability-in-cerebral-palsy-a-population-based-retrospective-study
#2
Susan M Reid, Elaine M Meehan, Sarah J Arnup, Dinah S Reddihough
AIM: A population-based observational study design was used to describe the epidemiology of intellectual disability in cerebral palsy (CP) in terms of clinical and neuroimaging associations, and to report the impact of intellectual disability on utilization of health services and length of survival. METHOD: Population CP registry data were used to retrospectively assess the frequency of intellectual disability and strength of associations between intellectual disability and mobility, epilepsy, vision, hearing, communication, and neuroimaging patterns (n=1141)...
April 18, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29667613/synovial-sarcoma-complicating-maffucci-syndrome
#3
Rima Gammoudi, Amina Aounallah, Colandane Belajouza, Rafiaa Nouira
Maffucci syndrome is a rare nonhereditary disorder comprising of lymphovascular malformations and multiple enchondromas, which may be associated with several internal malignancies. This report describes a new association of Maffucci syndrome with pedal synovial sarcoma. Our case is also remarkable as lymphangioma circumscriptum is the sole lymphovascular component, which has been rarely reported. The aim of this report is to generate awareness about this rare condition and also highlight the importance of screening for malignancies in this disorder...
April 17, 2018: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/29667469/maxillary-arch-dimensions-associated-with-acoustic-parameters-in-prepubertal-children
#4
Abdul-Latif Hamdan, Mohannad Khandakji, Anthony Tannous Macari
OBJECTIVES: To evaluate the association between maxillary arch dimensions and fundamental frequency and formants of voice in prepubertal subjects. MATERIALS AND METHODS: Thirty-five consecutive prepubertal patients seeking orthodontic treatment were recruited (mean age = 11.41 ± 1.46 years; range, 8 to 13.7 years). Participants with a history of respiratory infection, laryngeal manipulation, dysphonia, congenital facial malformations, or history of orthodontic treatment were excluded...
April 18, 2018: Angle Orthodontist
https://www.readbyqxmd.com/read/29666954/clinical-characteristics-of-a-japanese-patient-with-bardet-biedl-syndrome-caused-by-bbs10-mutations
#5
Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, Yoshihiro Hotta
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations. PATIENT AND METHODS: The patient was a 22-year-old Japanese woman...
April 17, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29666470/glucose-regulated-protein-78-is-essential-for-cardiac-myocyte-survival
#6
Xiaoding Wang, Xukun Bi, Guangyu Zhang, Yingfeng Deng, Xiang Luo, Lin Xu, Philipp E Scherer, Anwarul Ferdous, Guosheng Fu, Thomas G Gillette, Amy S Lee, Xuejun Jiang, Zhao V Wang
Secretory and transmembrane proteins rely on proper function of the secretory pathway for folding, posttranslational modification, assembly, and secretion. Accumulation of misfolded proteins in the endoplasmic reticulum (ER) stimulates the unfolded protein response (UPR), which communicates between the ER and other organelles to enhance ER-folding capacity and restore cellular homeostasis. Glucose-regulated protein of 78 kDa (GRP78), an ER-resident protein chaperone, is a master regulator of all UPR signaling branches...
April 17, 2018: Cell Death and Differentiation
https://www.readbyqxmd.com/read/29666350/case-report-of-newborn-with-de-novo-partial-trisomy-2q31-2-37-3-and-monosomy-9p24-3
#7
Maurizia Colangelo, Melissa Alfonsi, Chiara Palka, Eleonora Zio Zio, Silvana Di Renzo, Paolo Guanciali-Franchi, Giandomenico Palka
We describe a newborn female with a de novo duplication of chromosomes 2q31.2 and 2q37.3, and a de novo monosomy 9p24.3. The clinical findings of this patient include congenital heart defects, dysmorphic facial features, hypotonia, feeding difficulties and microcephaly. Ultrasonographic prenatal findings were negative for foetal malformations. Only a mild pyelectasis was reported. This is the first report of molecular cytogenetic characterization of a partial trisomy 2q31.2-37.3 with monosomy 9p24.3.
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29666202/nutritional-role-of-amniotic-fluid-clues-from-infants-with-congenital-obstruction-of-the-digestive-tract
#8
Nigel J Hall, Melanie Drewett, David Burge
AIMS: To investigate the role played by amniotic fluid in late fetal nutrition by analysis of infants born with digestive tract atresia. METHODS: Birth weight (BW), gestational age and gender of infants born with oesophageal (OA), duodenal (DA), jejunal (JA) and ileal atresia (IA) were recorded and BW Z-scores compared. Infants with incomplete obstruction (stenosis), chromosomal or syndromic conditions and multiple congenital malformations were excluded. Term infants admitted with suspected postnatal intestinal obstruction in whom no congenital malformation was found were used as a control group...
April 17, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29666079/oral-superficial-haemosiderotic-lymphovascular-malformation-a-rare-presentation
#9
Manar Alhassani, Vijay Santhanam, Shadi Basyuni
We present an extremely rare case of a 53-year-old woman with an intraoral superficial haemosiderotic lymphovascular malformation (SHLM), also known as hobnail haemangioma. SHLM is a rare, benign, vascular tumour first described as targetoid haemosiderotic haemangioma, with only a handful of cases reported to present in the oral cavity. The diagnosis was established following complete surgical excision of the lesion, and after 14 months, there are still no signs of recurrence. Although SHLM is an uncommon condition, accurate and timely diagnosis is valuable in distinguishing these lesions from their more serious competing differential diagnoses...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29665674/hippo-signaling-circuit-and-divergent-tissue-growth-in-mammalian-eye
#10
Kyeong Hwan Moon, Jin Woo Kim
Vertebrate organ development is accompanied by demarcation of tissue compartments, which grow coordinately with their neighbors. Hence, perturbing the coordinative growth of neighboring tissue compartments frequently results in organ malformation. The growth of tissue compartments is regulated by multiple intercellular and intracellular signaling pathways, including the Hippo signaling pathway that limits the growth of various organs. In the optic neuroepithelial continuum, which is partitioned into the retina, retinal pigment epithelium (RPE) and ciliary margin (CM) during eye development, the Hippo signaling activity operates differentially, as it does in many tissues...
April 11, 2018: Molecules and Cells
https://www.readbyqxmd.com/read/29665587/interstitial-transpedal-mr-lymphangiography-of-central-lymphatics-using-a-standard-mr-contrast-agent-feasibility-and-initial-results-in-patients-with-chylous-effusions
#11
Claus Christian Pieper, Hans Heinz Schild
PURPOSE:  To describe a novel technique for transpedal magnetic resonance lymphangiography (tMRL) with interstitial injection of a standard gadolinium-based contrast agent, and to assess its ability to visualize the central lymphatic system (CLS) in patients with chylous effusions. MATERIALS AND METHODS:  Experiences with tMRL were retrospectively reviewed in seven patients with chylous effusions. High-resolution three-dimensional multi-echo (mDIXON) images of the entire torso were obtained before and after interstitial injection of an extracellular gadolinium-based contrast agent...
April 17, 2018: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
https://www.readbyqxmd.com/read/29665339/patterns-of-orofacial-clefting-in-new-york-city-from-1983-to-2010-trends-by-racial-background-birthplace-and-public-health-strategies
#12
Sydney C Butts, Simone Reynolds, Lyuba Gitman, Prayag Patel, Michael Joseph
OBJECTIVE: To determine the role of racial background, public health initiatives, and residence on the prevalence of orofacial clefts (OFCs) in New York City (NYC). DESIGN/METHODS: Retrospective review of OFC cases from the New York State Congenital Malformations Registry. PATIENTS/PARTICIPANTS: Patients born with an OFC and all live births to mothers residing in NYC between 1983 and 2010. MAIN OUTCOME MEASURES: Orofacial cleft birth prevalence by cleft type, race, and borough of maternal residence for each year and by time period around the implementation of public health interventions including folate supplementation...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29665020/type-ii-and-iii-congenital-pulmonary-airway-malformation-with-hydrops-treated-in-utero-with-percutaneous-sclerotherapy
#13
Andrew H Chon, Lisa M Korst, Mira Abdel-Sattar, Arlyn Llanes, Joseph G Ouzounian, Ramen H Chmait
OBJECTIVE: To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. METHODS: Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All patients underwent ultrasonic measurement of the CPAM volume ratio (CVR). Results are expressed as median (range). RESULTS: Gestational age (GA) at initial sclerotherapy was 22...
April 17, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29664514/-damage-control-resuscitation-in-pediatric-severe-trauma
#14
Adriana Wegner Araya
INTRODUCTION: Trauma is an important cause of morbidity and mortality in the pediatric population. It has the first place in mortality in our country without considering perinatal pathologies and congenital malformations. An important percentage of early and late deaths secondary to this cau se, as well as its sequelae, could be prevented with optimal and timely resuscitation. OBJECTIVE: To review the applicability of damage control resuscitation (DCR) in severe pediatric trauma, with emphasis on medical management...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664509/congenital-hydrocephalus-g%C3%A3-mez-l%C3%A3-pez-hern%C3%A3-ndez-syndrome-an-underdiagnosed-syndrome-a-clinical-case
#15
Camila Gálvez V, Isidro Huete, Marta Hernández
INTRODUCTION: Hydrocephalus is defined as complex conditions influenced by genetic and environmental factors. Excluding hydrocephalus acquired from infection or brain tumors, congenital hydrocephalus with a genetic cause may occur isolated (hydrocephalus isolated, pure or non-syndromatic) or as a component of a genetic syndrome (syndromic hydrocephalus). OBJECTIVE: To present a syndromic congenital hydrocephalus with a known diagnosis, in order to be considered in the study of this pathology and to perform a review of hydrocephaly with a genetic cause...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#16
Ahmed Y BoAli, Majid Alfadhel, Brahim Tabarki
Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways...
April 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29664316/endovascular-repair-of-interrupted-aortic-arch-approach-with-hope-for-fewer-complications
#17
Ata Firouzi, Bahram Mohebbi, Ali Shafiei
Interrupted aortic arch (IAA) is a rare congenital malformation defined as complete discontinuity between ascending and descending parts of aorta. We present a case of IAA, which was referred to us due to dilatation of proximal and mid parts of his thoracic aorta accompanied by narrowing of aorta proximal to the branching of the left subclavian artery. Further evaluation revealed interruption of aorta at the proximal part of descending thoracic aorta by a transverse septum along with several collateral formations...
December 23, 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29664213/a-patient-centred-multi-domain-instrument-for-improving-the-clarity-of-outcomes-reporting-and-documentation-in-complex-airway-surgery
#18
S A R Nouraei, K J Heathcote
Laryngotracheal stenosis refers to abnormal narrowing of the central airways from larynx to carina. It is caused by an eclectic group of conditions that include intubation-related airway stenosis, granulomatosis with polyangiitis, tracheal compression or malignancy, and congenital laryngotracheal malformations. A significant proportion of patients with this condition can be satisfactorily treated using a combination of endoscopic and open surgical techniques and when definitive treatment is not possible, most of the remaining patients can be managed with a combination of endoscopic airway maintenance, stents, T-tubes, and/or tracheostomies...
April 17, 2018: Clinical Otolaryngology
https://www.readbyqxmd.com/read/29663912/periodontal-impact-of-preformed-metal-crowns-on-permanent-molars-of-children-and-adolescents-a-pilot-study
#19
Aikaterini Koleventi, Dimitra Sakellari, Konstantinos N Arapostathis, Nikolaos Kotsanos
PURPOSE: When treating an early permanent molar with coronal malformation in children, as in severe molar incisor hypomineralization (MIH) cases, preformed metal crowns (PMCs) are a successful mid- to long-term restorative option. The purpose of this study was to evaluate possible changes in periodontal tissues and subgingival microbiota after PMC placement by way of a split-mouth study. METHODS: Fourteen healthy patients with a mean age of 10.6 (±4.2) years old, attending a university dental clinic, had one MIH severely affected permanent first molar restored with a PMC (study side), while the contralateral relatively healthy tooth was the control...
March 15, 2018: Pediatric Dentistry
https://www.readbyqxmd.com/read/29663710/the-amniote-oculomotor-complex
#20
V Company, J A Moreno-Bravo, A Perez-Balaguer, E Puelles
The Oculomotor complex is a combination of somatic and parasympatethic neurons. The correct development and wiring of this cranial pair is essential to perform basic functions: eyeball and eyelid movements, pupillary constriction and lens accommodation. The improper formation or function of this nucleus leads pathologies such as strabismus. We describe the oculomotor organization and function in different vertebrate brains, including chick, mouse and human. The morphological localization is detailed, as well as the spatial relation with the trochlear nucleus in order to adjust some misleading anatomical topographic descriptions...
April 16, 2018: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
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