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https://www.readbyqxmd.com/read/29782331/management-challenges-in-an-infant-with-pentalogy-of-cantrell-giant-anterior-encephalocele-and-craniofacial-anomalies-a-case-report
#1
Richard Hubbard, Seth Hayes, Holly Gillis, Spencer Lindsey, Prashant Malhotra, Tariq Wani, Joseph D Tobias, Ralph Beltran
Pentalogy of Cantrell is a rare syndrome consisting of midline abnormalities involving the heart, sternum, abdominal wall, and the anterior and pericardial diaphragm. This combination of defects places patients at particular perioperative risk and requires individualized management during anesthetic care. The following report documents the management of a patient with pentalogy of Cantrell, whose condition was further complicated by severe midline craniofacial abnormalities, including large anterior encephalocele, deficient mandible, tethered tongue, and cleft palate...
May 17, 2018: A&A practice
https://www.readbyqxmd.com/read/29778488/the-2016-bernard-sachs-lecture-timing-in-morphogenesis-and-genetic-gradients-during-normal-development-and-in-malformations-of-the-nervous-system
#2
REVIEW
Harvey B Sarnat
Nervous system development is quadradimensional. Both normal ontogenesis and developmental malformations are explained in the context of the fourth dimension, timing. Timing of the onset of either the genetic expression of a mutation or an epigenetic event that may be teratogenic is primordial in determining morphogenesis and the forms of malformations with their functional consequences. Multiple genotypes may cause similar phenotypes or a single genotype with different degrees of retained normal genetic expression may result in variable phenotypes...
March 30, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29766040/the-midline-axon-crossing-decision-is-regulated-through-an-activity-dependent-mechanism-by-the-nmda-receptor
#3
Jingxia Gao, Tamara J Stevenson, Adam D Douglass, Joshua P Barrios, Joshua L Bonkowsky
Axon guidance in vertebrates is controlled by genetic cascades as well as by intrinsic activity-dependent refinement of connections. Midline axon crossing is one of the best studied pathfinding models and is fundamental to the establishment of bilaterally symmetric nervous systems. However, it is not known whether crossing requires intrinsic activity in axons, and what controls that activity. Further, a mechanism linking neuronal activity and gene expression has not been identified for axon pathfinding. Using embryonic zebrafish, we found that the NMDA receptor (NMDAR) NR1...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29762448/pectoralis-major-musculocutaneous-flap-with-a-midline-sternal-skin-paddle-for-head-and-neck-reconstruction-a-new-design
#4
Jeongseok Oh, Hee Chang Ahn, Seungki Youn, Kyung Tae
PURPOSE: The pectoralis major musculocutaneous (PMMC) flap is a classic flap for head and neck reconstruction, relatively unpopular with the advancement of microsurgery and free flaps. The classic parasternal paddle design provided a thick flap with a small rotation arch leaving objectionable scarring. Our new symmetric midsternal design overcomes these problems. METHODS: Chart review was done from the years 2000 to 2017. Flap skin paddle was placed symmetrically on both sides of the midsternal line...
May 14, 2018: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/29761634/extracephalic-manifestations-of-nonchromosomal-nonsyndromic-holoprosencephaly
#5
Ariel F Martinez, Paul S Kruszka, Maximilian Muenke
Nonchromosomal, nonsyndromic holoprosencephaly (NCNS-HPE) has traditionally been considered as a condition of brain and craniofacial maldevelopment. In this review, we present the results of a comprehensive literature search supporting a wide spectrum of extracephalic manifestations identified in patients with NCNS-HPE. These manifestations have been described in case reports and in large cohorts of patients with "single-gene" mutations, suggesting that the NCNS-HPE phenotype can be more complex than traditionally thought...
May 15, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29756302/velopharyngeal-dysfunction-from-intranasal-substance-abuse-case-series-and-review-of-literature
#6
Peng You, Linda Chow, Anne Dworschak-Stokan, Murad Husein
OBJECTIVE: Intranasal substance abuse with cocaine or opioids can result in complications involving the midline nasal and oral structures. When the defect involves the velopharyngeal musculature, this leads to velopharyngeal dysfunction (VPD). This article aims to illustrate this clinical entity through a series of four patients and a review of the literature. METHODS: A series of four cases of VPD due to intranasal narcotic use and their management are discussed...
May 14, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29753093/epidemiology-of-septo-optic-dysplasia-with-focus-on-prevalence-and-maternal-age-a-eurocat-study
#7
Ester Garne, Anke Rissmann, Marie-Claude Addor, Ingeborg Barisic, Jorieke Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J Kurinczuk, Nathalie Lelong, Karen Luyt, Catherine Lynch, Mary T O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Florence Rouget, Bruno Schaub, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Awi Wiesel, Nataliia Zymak-Zakutnia, Monica Lanzoni, Joan K Morris
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29749693/modeling-the-complex-etiology-of-holoprosencephaly-in-mice
#8
Mingi Hong, Robert S Krauss
Holoprosencephaly (HPE) is a common developmental defect caused by failure to define the midline of the forebrain and/or midface. HPE is associated with heterozygous mutations in Nodal and Sonic hedgehog (SHH) pathway components, but clinical presentation is highly variable, and many mutation carriers are unaffected. It is therefore thought that such mutations interact with more common modifiers, genetic and/or environmental, to produce severe patterning defects. Modifiers are difficult to identify, as their effects are context-dependent and occur within the complex genetic and environmental landscapes that characterize human populations...
May 11, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29735202/zorro-z-omphaloplasty-repair-for-omphalocele
#9
Michel Jean-Luc, Kassir Rani, Harper Luke, Gavage Laurent, Frade Fernanda, Clermidi Pauline, Sauvat Frederique, Ramful Duksha
PURPOSE: To suggest a novel technique for omphalocele closure which uses the circular base of the umbilical cord, thus allowing for a more physiological healing process and natural-looking scar. METHODS: Among 16 neonates operated for omphalocele between 2011 and 2016, 12 were closed with a one-stage procedure using a Z omphaloplasty (ZORRO). Median gestational age was 36.5 weeks; median birth weight was 3210 g. The umbilical arteries were divided and ligated outside the peritoneal cavity above the parietal musculocutaneous plane...
April 6, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29726304/retrorectus-repair-of-incisional-ventral-hernia-with-urinary-bladder-matrix-reinforcement-in-a-long-term-porcine-model
#10
D Adam Young, Nicolette Jackson, Catherine A Ronaghan, Collin Em Brathwaite, Thomas W Gilbert
AIM: Not all biologically derived materials elicit the same host response when used for reinforcement of ventral hernia repairs. This study aimed to evaluate the remodeling characteristics of the abdominal wall following reinforcement with urinary bladder matrix (UBM) in a large animal preclinical model of ventral hernia repair. MATERIALS & METHODS: Midline defects in 36 Yucatan minipigs were reinforced with UBM-derived surgical devices using a classic Rives-Stoppa-Wantz approach, and compared with primary repair controls...
May 4, 2018: Regenerative Medicine
https://www.readbyqxmd.com/read/29713832/assessment-of-myofascial-medialization-following-posterior-component-separation-via-transversus-abdominis-muscle-release-in-a-cadaveric-model
#11
A Majumder, H J Miller, L M Del Campo, H Soltanian, Y W Novitsky
PURPOSE: Posterior component separation (PCS) via the transversus abdominis release (TAR) procedure continues to gain popularity. However, neither the physiologic basis nor the extent of myofascial medialization after TAR is established. We aimed to assess both anterior and posterior rectus fascia (AF and PF) medialization following each step of the TAR procedure. METHODS: Ten fresh cadavers underwent PCS via TAR. Steps included midline laparotomy (MLL), retrorectus dissection (RRD), incision of the posterior rectus sheath (IPL), transversus abdominis muscle division (TAD), and retromuscular dissection (RMD)...
April 30, 2018: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/29713735/a-new-oval-advancement-flap-design-for-reconstruction-of-pilonidal-sinus-defect
#12
Enver Arpaci, Serdar Altun, Erkan Orhan, Atilla Eyuboglu, Nilgun Markal Ertas
BACKGROUNDS: Pilonidal sinus is a common chronic disease of the sacrococcygeal region. Although many surgical methods have been described for treating pilonidal sinus disease, controversy still exists as to the best surgical technique. The aim of this study is to present a new modified advancement flap technique named "omega flap" for the treatment of pilonidal sinus disease. MATERIALS AND METHODS: This study included 18 patients with pilonidal sinus who were treated between March 2012 and August 2014...
April 30, 2018: World Journal of Surgery
https://www.readbyqxmd.com/read/29708274/congenital-pleuroperitoneal-hernia-presenting-as-gastrothorax-in-five-cavalier-king-charles-spaniel-dogs
#13
M Rossanese, M Pivetta, N Pereira, R Burrow
Five cavalier King Charles spaniels were examined for acute onset of respiratory distress. Thoracic radiographs demonstrated diaphragmatic hernia and tension gastrothorax, visible as a distended stomach occupying the left caudal thoracic cavity. Exploratory midline coeliotomy confirmed congenital pleuroperitoneal diaphragmatic hernia with herniation and dilatation of the stomach. The hernia configuration was consistent in all cases, with a defect affecting the left diaphragmatic crus. Congenital pleuroperitoneal diaphragmatic hernia is a rare condition caused by a defect in the dorsolateral diaphragm...
April 30, 2018: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/29705732/treatment-and-reconstruction-of-a-complicated-infected-scalp-squamous-cell-carcinoma-with-cns-invasion
#14
Andreas Nørgaard Glud, Frantz Rom Poulsen, Jane Linnet, Jens Ahm Sørensen
A 60-year-old male patient with a large infected cranial apex lesion was admitted with lethargy and mental status changes. The patient underwent evaluation with imaging studies, a skin biopsy, cultures with microscopy and a diagnostic burr hole. MRI and positron emission tomography/CT scan revealed a squamous cell carcinoma with ingrowth in the midline of the brain and subdural empyema infected with Streptococcus anginosus and Staphylococcus aureus High dose intravenous antibiotic treatment was initiated and the patient subsequently underwent a surgical resection of the carcinoma with a 1 cm margin of surrounding skin and skull...
April 28, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29704737/laparoscopic-and-percutaneous-repair-of-a-large-midline-incisional-hernia-extending-to-the-bilateral-subcostal-region-a-case-report
#15
Shingo Tsujinaka, Yukio Nakabayashi, Nao Kakizawa, Rina Kikugawa, Nobuyuki Toyama, Toshiki Rikiyama
INTRODUCTION: Optimal surgery for a midline incisional hernia extending to the subcostal region remains unclear. We report successful hybrid laparoscopic and percutaneous repair for such a complex incisional hernia. PRESENTATION OF CASE: An 85-year-old woman developed a symptomatic incisional hernia after open cholecystectomy. Computed tomography revealed a 14 × 10 cm fascial defect. Four trocars were placed under general anesthesia. Percutaneous defect closure was performed using multiple non-absorbable monofilament threads, i...
April 21, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29692520/hemiagenesis-of-thyroid-with-dual-thyroid-ectopia-a-rare-case-report
#16
Pankaj S Jha, Varsha Rote-Kaginalkar, Prashant Titare, Manoj B Jadhav
Developmental defects of the thyroid gland are very rare. The common developmental abnormalities are ectopic thyroid, hemiagenesis and agenesis of thyroid gland. These developmental defects may or may not be associated with deranged thyroid function tests. Ultrasonography (USG) is the initial modality of choice for thyroid hemiagenesis but further evaluation by computed tomography (CT) scan or nuclear scan should be done to look for ectopic thyroid tissue rest. Here, we report a rare case of a 9-year-old female having hemiagenesis of the right thyroid lobe and isthmus along with dual ectopic thyroid tissue at prehyoid and infrahyoid regions of the neck presenting as a midline neck swelling and subclinical hypothyroidism...
January 2018: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29687086/vertical-diplopia-and-oscillopsia-due-to-midbrain-keyhole-aqueduct-syndrome-associated-with-severe-cough
#17
Angela Jinsook Oh, Bryan Alexander Lanzman, Yaping Joyce Liao
Purpose: Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease. Observations: A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Examination revealed a 1-2 Hz down-beating nystagmus in primary gaze that worsened with left, right, and down gazes...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29681084/identification-of-a-novel-homozygous-alx4-mutation-in-two-unrelated-patients-with-frontonasal-dysplasia-type-2
#18
Mona El-Ruby, Alaa El-Din Fayez, Sara H El-Dessouky, Mona S Aglan, Inas Mazen, Nora Ismail, Hanan H Afifi, Maha M Eid, Mostafa I Mostafa, Mennat I Mehrez, Yasmin Khalil, Maha S Zaki, Khaled R Gaber, Mohamed S Abdel-Hamid, Ghada M H Abdel-Salam
We report two unrelated boys with frontonasal dysplasias type-2 (FND-2) who shared an identical novel homozygous ALX4 mutation c.291delG (p.Q98Sfs*83). Both patients presented with a large skull defect but one had bilateral parietal meningocele-like cysts that lie along with the bony defect and increased in size with age. Scalp alopecia, hypertelorism, and clefted alae nasi were also detected in both of them. Furthermore, impalpable gonads were noted, being unilateral in one and bilateral in the other. Neuroimaging showed small dysplastic occipital lobes with dysgyria and midline subarachnoid cyst...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29665712/nocardia-rubra-cell-wall-skeleton-accelerates-cutaneous-wound-healing-by-enhancing-macrophage-activation-and-angiogenesis
#19
Yi Wang, Ying Hu, Ben Ma, Fei Wang, Sheng Liu, Jing Xu, Xu-Lin Chen, Xiong-Wen Lü
Objective This study was performed to investigate the effect of Nocardia rubra cell wall skeleton (N-CWS) on wound healing of full-thickness skin defects. Methods Two 2- × 2-cm full-thickness wounds, one on each side of the midline, were made on the back of 12 rats. One wound was covered with Vaseline gauze soaked in normal saline, whereas the other was covered with Vaseline gauze and N-CWS. Wound dressings were changed every other day from day 0 (wound creation) to day 11. Four of the 12 rats were killed on day 7, and biopsy samples were obtained for biochemical and histopathological analyses...
January 1, 2018: Journal of International Medical Research
https://www.readbyqxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#20
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
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