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https://www.readbyqxmd.com/read/28634690/long-term-retromuscular-and-intraperitoneal-mesh-size-changes-within-a-randomized-controlled-trial-on-incisional-hernia-repair-including-a-review-of-the-literature
#1
P Rogmark, O Ekberg, A Montgomery
Purpose Ingrowth of fibroblasts in a polypropylene mesh may cause contraction and a later recurrence. We assessed mesh contraction in intraabdominal and retromuscular implantation after incisional hernia repair. METHODS: A cohort of patients within an RCT on laparoscopic (LHR) versus open hernia repair (OHR) had their mesh borders marked with metal clips. X-ray was performed on postoperative day 1 and after 1 year. Total length, width, and dislocation were measured. A tacker fixated large-pore polypropylene mesh was used in LHR, and a retromuscular small-pore heavy-weight mesh was sutured to the midline in OHR...
June 20, 2017: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/28617177/discordant-anomalies-with-combined-features-of-pentalogy-of-cantrell-and-oeis-complex-a-case-report-in-monochorionic-twins
#2
Nique Kunapinun, Jitsupa Treetipsatit
INTRODUCTION: Ventral body wall defects have various manifestations. Among others, pentalogy of Cantrell (PC) and omphalocele exstrophy imperforate anus spinal abnormalities (OEIS) complex are defects that involve upper and lower anterior midline of body wall, respectively. Although both entities are in a spectrum of ventral body wall defects, the combination of PC and OEIS complex has not been described. CASE REPORT: In this report, we describe an unusual case of congenital ventral body wall defect with combined features of PC and OEIS complex, which discordantly occurred in monochorionic monoamniotic twins...
June 15, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28615204/human-cytomegalovirus-ie2-protein-disturbs-brain-development-by-dysregulating-neural-stem-cell-maintenance-and-the-polarization-of-migrating-neurons
#3
Dasol Han, Sung-Hyun Byun, Juwan Kim, Mookwang Kwon, Samuel J Pleasure, Jin-Hyun Ahn, Keejung Yoon
Despite the high incidence of severe defects in the central nervous system caused by human cytomegalovirus (HCMV) congenital infection, the mechanism of HCMV neuropathogenesis and the roles of individual viral genes have not yet been fully determined. In this study, we show that the immediate-early 2 (IE2) protein may play a key role in HCMV-caused neurodevelopmental disorders. IE2-transduced neural progenitor cells gave rise to neurospheres with a lower frequency and produced smaller neurospheres than control cells in vitro, indicating reduction of self-renewal and expansion of neural progenitors by IE2...
June 14, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28610820/mandibular-symphyseal-midline-distraction-osteogenesis-for-micrognathia-associated-with-aglossia-and-situs-inversus-totalis
#4
X C Ren, Y F Li, Y Liu, S S Zhu
Aglossia is a rare congenital abnormality, often associated with micrognathia and limb defects. Situs inversus totalis is also a rare congenital abnormality, defined as a mirror-image reversal of all the asymmetric organs of the thorax and abdomen. The concurrence of these two abnormalities has only been reported in eight similar cases in the literature. Although micrognathia and malocclusion were observed in all of these cases, few treatments were performed for the patients' dentofacial deformities. This report describes the case of a 7-year-old boy suffering from micrognathia, aglossia, and situs inversus totalis simultaneously, and the treatment for his micrognathia by mandibular symphyseal midline distraction osteogenesis, guided by virtual surgical planning and a three-dimensional printed surgical template...
June 10, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28599093/clinical-and-molecular-cytogenetic-characterization-of-four-unrelated-patients-carrying-2p14-microdeletions
#5
Marie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, Alexandra Afenjar, Cyril Mignot, Joris Andrieux, Marion Gerard, Jaume Catala-Mora, Pierre Simon Jouk, Audrey Labalme, Patrick Edery, Damien Sanlaville, Massimiliano Rossi
We report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven patients have been reported so far harboring deletions including 2p14p15 and encompassing OTX1, whose haploinsufficiency is frequently associated with genitourinary defects. To date, only one patient has been reported carrying a more proximal 2p14 microdeletion which does not include OTX1...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28593555/genetic-analysis-of-irf6-a-gene-involved-in-craniofacial-midline-formation-in-relation-to-pituitary-and-facial-morphology-of-patients-with-idiopathic-growth-hormone-deficiency
#6
Eline Starink, Anita C S Hokken-Koelega, Theo J Visser, Janneke Baan, Robin P Peeters, Laura C G de Graaff
INTRODUCTION: Growth hormone is secreted by the pituitary gland, which forms part of the craniofacial midline. IRF6 encodes a transcription factor involved in the development of the craniofacial midline and mutations in IRF6 are known to disturb craniofacial development. Craniofacial and pituitary development are closely related. After whole exome sequencing revealed a new mutation in IRF6 in a family with Idiopathic Growth Hormone Deficiency (IGHD), we screened the remainder of our IGHD cohort for mutations in this gene and related their genotypes to pituitary and craniofacial morphology...
June 7, 2017: Pituitary
https://www.readbyqxmd.com/read/28583501/otorhinolaryngologic-manifestations-of-hartsfield-syndrome-case-series-and-review-of-literature
#7
Jeremie D Oliver, Deanna C Menapace, Shelagh A Cofer
Diagnosis of Hartsfield syndrome includes recognition of three distinct clinical anomalies: holoprosencephaly, ectrodactyly, and bilateral cleft-lip and palate syndrome. A family including three male siblings all affected by Hartsfield syndrome presented to our institution for care. An autosomal dominant variant in Fibroblast Growth Factor Receptor 1 (FGFR1) was identified. This report focuses on otorhinolaryngologic manifestationsof Hartsfield syndrome, previously undescribed, including midline defects of holoprosencephaly, bilateral cleft-lip and palate, retrognathia, gastroesophageal reflux disease, external ear anomalies, eustachian tube dysfunction, and midface abnormalities, in addition to multidisciplinary, long-term management strategies...
July 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28548391/structural-and-functional-observations-of-the-p151l-mid1-mutation-reveal-alpha4-plays-a-significant-role-in-x-linked-opitz-syndrome
#8
Katharine M Wright, Haijuan Du, Michael A Massiah
Mutations of human MID1 are associated with X-linked Opitz G Syndrome (XLOS), which is characterized by midline birth defects. XLOS-observed mutations within the MID1 B-box1 domain are associated with cleft lip/palate, wide-spaced eyes and hyperspadias. Three of the four XLOS-observed mutations result in B-box1 unfolding but the structural and functional effects of the P151L mutation is not characterized. Here, we demonstrate that the P151L mutation does not disrupt the overall tertiary structure of the B-box1 domain and the adjacent domains...
May 26, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28523383/anterior-sacral-meningocele-presenting-as-intracystic-bleeding
#9
Ignacio Javier Gilete-Tejero, Marta Ortega-Martínez, Jacinto Mata-Gómez, María Rico-Cotelo, Luis Miguel Bernal-García, Beatriz Yerga-Lorenzana, Ignacio Casado-Naranjo
PURPOSE: To report a case of anterior sacral meningocele with intralesional bleeding secondary to sacrococcygeal trauma. Likewise, there is a discussion about the physiopathology and the surgical approach to these types of lesions. METHODS: A 43-year-old man diagnosed with Marfan syndrome suffered sacrococcygeal trauma. He was admitted to the emergency room due to symptoms of headache, nausea, and lower limb subjective weakness. CT and MRI showed a large retroperitoneal mass with hemorrhagic content close to the sacrum...
May 18, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28522383/cranium-bifidum-occultum-associated-with-hypertelorism-treated-with-posterior-vault-reconstruction-and-orbital-box-osteotomies-case-report-and-technical-note
#10
Rimal H Dossani, David M Yates, Piyush Kalakoti, Anil Nanda, Christina Notarianni, Jennifer Woerner, Ghali E Ghali
Cranium bifidum occultum is a disorder of skull ossification presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone near the intersection of the sagittal and lambdoid sutures. The standard treatment for cranium bifidum occultum is observation. We present a case of a 5-year-old boy who presented with a 15x4.5 cm midline posterior cranial vault defect consistent with diagnosis of cranium bifidum occultum associated with orbital hypertelorism and a widened nose. The patient underwent posterior vault reconstruction for correction of cranium bifidum occultum defect followed by bifrontal craniotomy and orbital box osteotomies for correction of orbital hypertelorism and nasal deformity...
May 15, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28512508/lhermitte-duclos-disease-and-cerebellar-gangliocytoma-an-incidental-finding-in-a-patient-with-gradual-vision-loss
#11
Akshay Badakere, Pratik Chaugule, Soveeta Souravee Rath
A 50-year-old male patient presented to the neuro-ophthalmology clinic with chief complaints of gradual decrease in vision in both eyes, more in the left eye, for 6 years. On general examination, the patient had a hemiplegic gait. His presenting acuity was 20/50 in the right eye and 20/320 in the left eye, not improving further. He had dense posterior subcapsular cataracts in both eyes, and fundus examination revealed pale discs. Humphrey visual field tests 30-2 revealed a vertical nasal midline defect in the right eye and grossly depressed fields in the left eye...
June 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28488072/modified-components-separation-technique-experience-treating-large-complex-ventral-hernias-at-a-university-hospital
#12
A Torregrosa-Gallud, J Sancho Muriel, J Bueno-Lledó, P García Pastor, J Iserte-Hernandez, S Bonafé-Diana, O Carreño-Sáenz, F Carbonell-Tatay
BACKGROUND: An increasing number of patients have large or complex abdominal wall defects. Component separation technique (CST) is a very effective method for reconstructing complex midline abdominal wall defects in a manner that restores innervated muscle function without excessive tension. Our goal is to show our results by a modified CST for treating large ventral hernias. MATERIALS AND METHODS: A total of 351 patients with complex ventral hernias have been treated over a 10-year period...
May 9, 2017: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/28462624/-significance-of-the-computed-tomography-assisted-morphometry-in-the-surgical-planning-of-eventrated-abdominal-wall-hernias
#13
Gábor Martis, Renáta Laczik, László Damjanovich
INTRODUCTION: The eventrated, giant abdominal wall hernias represent a considerable challenge in our practice. Presently, preoperative evaluation of the musculo-aponeurotic elements of the abdominal wall by CT imaging is not part of routine planning of surgery. AIM: Evaluation of the abdominal wall hernia progression in time. Moreover, follow up the changes of the abdominal wall structures following series of intraabdominal surgeries. METHOD: Abdominal CT imaging were performed on the 1st, 3rd, 6th, 12th, 18th, and 24th postoperative months after the primary series of surgeries in the cases of 12 patients, whose reconstructive surgeries were not possible...
February 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28460649/congenital-left-ventricular-diverticulum
#14
Jorge A Morales-Quispe, Cristian Aguilar, Maria Ganiku-Furujen
Congenital diverticulum of the left ventricle is a rare cardiac malformation usually associated with midline thoraco-abdominal defects and other congenital cardiac malformations.
May 2, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28458953/midline-depressed-skull-fracture-presenting-with-quadriplegia-a-rare-phenomenon
#15
Manish J Mathew, Nupur Pruthi, Amey R Savardekar, Sarbesh Tiwari, Malla B Rao
BACKGROUND: Midline depressed skull fractures (MDSFs) deserve a special mention among skull fractures and should always be treated with caution. Here, an extremely unusual clinical presentation of a case of MDSF is highlighted along with its successful surgical management. CASE DESCRIPTION: A 26-year-old male presented with quadriplegia following assault on the head with sharp weapons. The patient had multiple lacerated wounds on the scalp with underlying cranial fractures...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28458461/endocrine-status-of-patients-with-septo-optic-dysplasia-fourteen-japanese-cases
#16
Mikiko Koizumi, Shinobu Ida, Yasuko Shoji, Yuri Etani, Yoshikazu Hatsukawa, Nobuhiko Okamoto
A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline brain defects. To date, a clinical study of SOD, regarding its endocrinological features in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD patients at our institution. Hormonal dysfunction was present in 78% of cases: ten cases presented combined hypopituitarism and one case presented precocious puberty. GHD and hypothyroidism were the most common endocrinopathies...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28445456/floor-plate-derived-netrin-1-is-dispensable-for-commissural-axon-guidance
#17
Chloé Dominici, Juan Antonio Moreno-Bravo, Sergi Roig Puiggros, Quentin Rappeneau, Nicolas Rama, Pauline Vieugue, Agns Bernet, Patrick Mehlen, Alain Chédotal
Netrin-1 is an evolutionarily conserved, secreted extracellular matrix protein involved in axon guidance at the central nervous system midline. Netrin-1 is expressed by cells localized at the central nervous system midline, such as those of the floor plate in vertebrate embryos. Growth cone turning assays and three-dimensional gel diffusion assays have shown that netrin-1 can attract commissural axons. Loss-of-function experiments further demonstrated that commissural axon extension to the midline is severely impaired in the absence of netrin-1 (refs 3, 7, 8, 9)...
May 18, 2017: Nature
https://www.readbyqxmd.com/read/28441416/ethanol-itself-is-a-holoprosencephaly-inducing-teratogen
#18
Mingi Hong, Robert S Krauss
Ethanol is a teratogen, inducing a variety of structural defects in developing humans and animals that are exposed in utero. Mechanisms of ethanol teratogenicity in specific defects are not well understood. Oxidative metabolism of ethanol by alcohol dehydrogenase or cytochrome P450 2E1 has been implicated in some of ethanol's teratogenic effects, either via production of acetaldehyde or competitive inhibition of retinoic acid synthesis. Generalized oxidative stress in response to ethanol may also play a role in its teratogenicity...
2017: PloS One
https://www.readbyqxmd.com/read/28434863/spatiotemporally-controlled-mechanical-cues-drive-progenitor-mesenchymal-to-epithelial-transition-enabling-proper-heart-formation-and-function
#19
Timothy R Jackson, Hye Young Kim, Uma L Balakrishnan, Carsten Stuckenholz, Lance A Davidson
During early cardiogenesis, bilateral fields of mesenchymal heart progenitor cells (HPCs) move from the anterior lateral plate mesoderm to the ventral midline, undergoing a mesenchymal-to-epithelial transition (MET) en route to forming a single epithelial sheet. Through tracking of tissue-level deformations in the heart-forming region (HFR) as well as movement trajectories and traction generation of individual HPCs, we find that the onset of MET correlates with a peak in mechanical stress within the HFR and changes in HPC migratory behaviors...
May 8, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28428262/uncoupling-neurogenic-gene-networks-in-the-drosophila-embryo
#20
William A Rogers, Yogesh Goyal, Kei Yamaya, Stanislav Y Shvartsman, Michael S Levine
The EGF signaling pathway specifies neuronal identities in the Drosophila embryo by regulating developmental patterning genes such as intermediate neuroblasts defective (ind). EGFR is activated in the ventral midline and neurogenic ectoderm by the Spitz ligand, which is processed by the Rhomboid protease. CRISPR/Cas9 was used to delete defined rhomboid enhancers mediating expression at each site of Spitz processing. Surprisingly, the neurogenic ectoderm, not the ventral midline, was found to be the dominant source of EGF patterning activity...
April 1, 2017: Genes & Development
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