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https://www.readbyqxmd.com/read/29108899/kallmann-syndrome-phenotype-and-genotype-of-hypogonadotropic-hypogonadism
#1
M I Stamou, N A Georgopoulos
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes"...
November 3, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29107171/progression-from-isolated-growth-hormone-deficiency-to-combined-pituitary-hormone-deficiency
#2
REVIEW
Manuela Cerbone, Mehul T Dattani
Growth hormone deficiency (GHD) can present at any time of life from the neonatal period to adulthood, as a result of congenital or acquired insults. It can present as an isolated problem (IGHD) or in combination with other pituitary hormone deficiencies (CPHD). Pituitary deficits can evolve at any time from GHD diagnosis. The number, severity and timing of occurrence of additional endocrinopathies are highly variable. The risk of progression from IGHD to CPHD in children varies depending on the etiology (idiopathic vs organic)...
October 19, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29099309/the-autophagy-inducing-kinases-ulk1-and-ulk2-regulate-axon-guidance-in-the-developing-mouse-forebrain-via-a-noncanonical-pathway
#3
Bo Wang, Rekha Iyengar, Xiujie Li-Harms, Joung Hyuck Joo, Christopher Wright, Alfonso Lavado, Linda Horner, Mao Yang, Jun-Lin Guan, Sharon Frase, Douglas R Green, Xinwei Cao, Mondira Kundu
Mammalian ULK1 (unc-51 like kinase 1) and ULK2, Caenorhabditis elegans UNC-51, and Drosophila melanogaster Atg1 are serine/threonine kinases that regulate flux through the autophagy pathway in response to various types of cellular stress. C. elegans UNC-51 and D. melanogaster Atg1 also promote axonal growth and defasciculation; disruption of these genes results in defective axon guidance in invertebrates. Although disrupting ULK1/2 function impairs normal neurite outgrowth in vitro, the role of ULK1 and ULK2 in the developing brain remains poorly characterized...
November 3, 2017: Autophagy
https://www.readbyqxmd.com/read/29089675/horizontal-gaze-palsy-with-progressive-scoliosis-a-case-report
#4
P Shalini, Virna M Shah
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression...
July 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/29062444/laparoscopic-repair-of-large-suprapubic-hernias
#5
Hasan Ediz Sikar, Kenan Çetin, Kemal Eyvaz, Levent Kaptanoglu, Hasan Fehmi Küçük
INTRODUCTION: Suprapubic hernia is the term to describe ventral hernias located less than 4 cm above the pubic arch in the midline. Hernias with an upper margin above the arcuate line encounter technical difficulties, and the differences in repair methods forced us to define them as large suprapubic hernias. AIM: To present our experience with laparoscopic repair of large suprapubic hernias that allows adequate mesh overlap. MATERIAL AND METHODS: Nineteen patients with suprapubic incisional hernias who underwent laparoscopic repair between May 2013 and January 2015 were included in the study...
September 2017: Wideochirurgia i Inne Techniki Mało Inwazyjne, Videosurgery and Other Miniinvasive Techniques
https://www.readbyqxmd.com/read/29057363/congenital-malformed-posterior-arch-of-atlas-with-fusion-defect-a-case-of-developmental-canal-stenosis-causing-cervical-myelopathy
#6
Siddharth Shah, Samir Dalvie, Ravi Ranjan Rai
Congenital anomalies of the posterior arch of the atlas (PAA) are usually asymptomatic and diagnosed incidentally. Very rarely, they present with cervical myelopathy, usually being associated with partial aplasia or agenesis of PAA. We describe a 44-year-old lady with cervical myelopathy secondary to a malformed PAA with developmental atlas-level spinal stenosis and a congenital posterior fusion defect with persistent midline cleft showing significant non-osseous fibro-cartilaginous hypertrophy, causing critical cord compression...
September 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/29053405/evolution-of-endoscopic-anterior-component-separation-to-a-precostal-access-with-a-new-cylindrical-balloon-trocar
#7
Gernot Köhler, Ines Fischer, Richard Kaltenböck, Michael Lechner, Bernhard Dauser, Lars Nannestad Jorgensen
INTRODUCTION: Endoscopic anterior component separation (ECS) techniques facilitate tension-free midline closure of wide ventral hernia defects. We describe a novel approach with a precostal incision and a new cylindrical ballon trocar. MATERIALS AND METHODS: A single-center analysis of 19 patients undergoing ECS between January 1, 2014 and August 2, 2017 was performed with regard to improvement of technique. We currently start with a lateral precostal incision. This access in a low-fat and stable area allows for easy identification of the external oblique muscle with the ribs functioning as dorsal abutment for entering the correct plane between external and internal oblique muscles...
October 20, 2017: Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A
https://www.readbyqxmd.com/read/29047350/sequence-variants-identification-at-the-kcnq1ot1-tss-differentially-methylated-region-in-isolated-omphalocele-cases
#8
Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano, Monica Miozzo
BACKGROUND: Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated form of the omphalocele accounts approximately for about the 14% of the total cases and its molecular etiology has never been fully elucidated...
October 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29043711/the-many-guises-of-endometriosis-giant-abdominal-wall-endometriosis-masquerading-as-an-incisional-hernia
#9
Chiara Petrosellini, Sala Abdalla, Tayo Oke
Endometriosis is defined by the presence of ectopic endometrial tissue outside the uterine cavity. Although it is a leading cause of chronic pelvic pain and infertility, its clinical presentation can vary, resulting in diagnostic and therapeutic challenges. Extrapelvic endometriosis is particularly difficult to diagnose owing to its ability to mimic other conditions. Endometrial tissue in a surgical scar is uncommon and often misdiagnosed as a granuloma, abscess, or malignancy. Cyclical hemorrhagic ascites due to peritoneal endometriosis is exceptionally rare...
January 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29036029/-anterior-skull-base-and-pericranial-flap-ossification-after-frontofacial-monobloc-advancement
#10
Anne Morice, Giovanna Paternoster, Agnès Ostertag, Syril James, Martine Cohen-Solal, Roman H Khonsari, Eric Arnaud
BACKGROUND: Frontofacial monobloc advancement (FFMBA) creates a communication between the anterior cranial fossa and nasal cavities. To tackle this issue, trans-orbital pericranial pedicled flaps (PF) are routinely performed in our center. This study aimed to assess the post-operative ossification of the anterior skull base and PF following FFMBA, and to identify factors influencing this ossification. METHODS: Measurements of the skull base only (SB) and of the ossified PF together with the SB (SB-OPF) were performed on CT scans at the naso-frontal (NF) and the naso-ethmoïdo-frontal (NEF) junctions...
October 12, 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29032518/synchronous-solitary-calvarial-yolk-sac-tumor-metastasis-as-the-initial-presentation-of-mediastinal-germ-cell-tumor
#11
Kirti Gupta, Madhivanan Karthigeyan, Ayushman Satapathy, Pravin Salunke
INTRODUCTION: In children, malignant tumors presenting as a calvarial mass that too as initial manifestation are unusual. Also, brain metastases per se are rare in pediatric solid tumors with an incidence of just 1.5%. CASE DESCRIPTION: We present a child with calvarial metastasis which was the presenting symptom of an otherwise asymptomatic large malignant mediastinal germ cell tumor (GCT). The lesion was dural-based involving both calvaria as well as the underlying brain parenchyma...
October 14, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29030926/sternal-malformations-and-anesthetic-management
#12
REVIEW
John H Nichols, Viviane G Nasr
Shamberger and Welch classify sternal malformations into four types: thoracic ectopia cordis, cervical ectopia cordis, thoraco-abdominal ectopia cordis, and cleft sternum. Cleft sternum is the most common subset, with a reported incidence of 1 in 50,000 to 100,000 live births, representing 0.15% of all anterior chest wall malformations. Acostello et al further classify cleft sternum into complete or partial (superior, medium, inferior) with a simple superior partial cleft sternum being by far the most common with an orthotopic heart, intact pericardium, and normal skin coverage...
November 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29030835/a-new-technique-for-tension-free-reconstruction-in-large-incisional-hernia
#13
Gabriele Munegato, Landino Fei, Michele Schiano di Visconte, Danilo Da Ros, Luana Moras, Gabriele Bellio
In the surgical management of large incisional hernias, the main target is the closure of the abdominal wall defect on the midline without a dangerous increase in the intraabdominal pressure. In this setting, new intraperitoneal prosthesis and components separation techniques were proposed to solve this problem. Both solutions present some critical issues. A new surgical approach with a free lateral double layer prosthesis totally in polypropylene both sides (FLaPp(®)) is proposed to overcome this problem...
December 2017: Updates in Surgery
https://www.readbyqxmd.com/read/28993416/regulation-of-axon-guidance-by-the-wnt-receptor-ror-cam-1-in-the-pvt-guidepost-cell-in%C3%A2-caenorhabditis-elegans
#14
Jason Chien, Ranjan Devkota, Nebeyu Yosef, Catarina Mörck
The Caenorhabditis elegans ventral nerve cord (VNC) consists of two asymmetric bundles of neurons and axons that are separated by the midline. How the axons are guided to stay on the correct sides of the midline remains poorly understood. Here we provide evidence that the conserved Wnt signaling pathway along with the Netrin and Robo pathways constitute a combinatorial code for midline guidance of PVP and PVQ axons that extend into the VNC. Combined loss of the Wnts CWN-1, CWN-2 and EGL-20 or loss of the Wnt receptor CAM-1 caused more than 70 % of PVP and PVQ axons to inappropriately cross over from the left side to the right side...
October 9, 2017: Genetics
https://www.readbyqxmd.com/read/28990258/baseline-connectome-modular-abnormalities-in-the-childhood-phase-of-a-longitudinal-study-on-individuals-with-chromosome-22q11-2-deletion-syndrome
#15
Liang Zhan, Lisanne M Jenkins, Aifeng Zhang, Giorgio Conte, Angus Forbes, Danielle Harvey, Kathleen Angkustsiri, Naomi J Goodrich-Hunsaker, Courtney Durdle, Aaron Lee, Cyndi Schumann, Owen Carmichael, Kristopher Kalish, Alex D Leow, Tony J Simon
Occurring in at least 1 in 3,000 live births, chromosome 22q11.2 deletion syndrome (22q11DS) produces a complex phenotype that includes a constellation of medical complications such as congenital cardiac defects, immune deficiency, velopharyngeal dysfunction, and characteristic facial dysmorphic features. There is also an increased incidence of psychiatric diagnosis, especially intellectual disability and ADHD in childhood, lifelong anxiety, and a strikingly high rate of schizophrenia spectrum disorders, which occur in around 30% of adults with 22q11DS...
October 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28977198/anterior-minithoracotomy-a-safe-approach-for-surgical-asd-closure-asd-device-retrieval
#16
Vivek Wadhawa, Chirag Doshi, Manish Hinduja, Pankaj Garg, Kartik Patel, Amit Mishra, Pratik Shah
OBJECTIVE: Midline sternotomy is the preferred approach for device migration following transcatheter device closure of ostium secundum atrial septal defect. Results of patients operated for device migration were retrospectively reviewed after transcatheter closure of atrial septal defect. METHODS: Among the 643 patients who underwent atrial septal defect with closure device, 15 (2.3%) patients were referred for device retrieval and surgical closure of atrial septal defect...
July 2017: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28954202/ciliopathy-protein-tmem107-plays-multiple-roles-in-craniofacial-development
#17
P Cela, M Hampl, N A Shylo, K J Christopher, M Kavkova, M Landova, T Zikmund, S D Weatherbee, J Kaiser, M Buchtova
A broad spectrum of human diseases called ciliopathies is caused by defective primary cilia morphology or signal transduction. The primary cilium is a solitary organelle that responds to mechanical and chemical stimuli from extracellular and intracellular environments. Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone where it acts to regulate protein content of the cilium. Mutations in TMEM107 were previously connected with oral-facial-digital syndrome, Meckel-Gruber syndrome, and Joubert syndrome exhibiting a range of ciliopathic defects...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28942568/endoscopic-anterior-component-separation-a-novel-technical-approach
#18
B Dauser, S Ghaffari, C Ng, T Schmid, G Köhler, F Herbst
PURPOSE: Open anterior release of the external oblique fascia to enable midline closure of large abdominal wall defects is associated with relevant morbidity due to extensive subcutaneous dissection. Using endoscopic techniques, wound complications can be minimized. However, identification of the correct entry point (e.g. for balloon trocar insertion) can be challenging especially in adipose patients. We therefore present a technical modification facilitating the entire procedure. METHODS: A novel technique for endoscopic anterior component separation using a trocar system allowing blunt and sharp dissection under direct vision is described...
September 23, 2017: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/28931923/mllt10-knockout-mouse-model-reveals-critical-role-of-af10-dependent-h3k79-methylation-in-midfacial-development
#19
Honami Ogoh, Kazutsune Yamagata, Tomomi Nakao, Lisa L Sandell, Ayaka Yamamoto, Aiko Yamashita, Naomi Tanga, Mai Suzuki, Takaya Abe, Issay Kitabayashi, Toshio Watanabe, Daisuke Sakai
Epigenetic regulation is required to ensure the precise spatial and temporal pattern of gene expression that is necessary for embryonic development. Although the roles of some epigenetic modifications in embryonic development have been investigated in depth, the role of methylation at lysine 79 (H3K79me) is poorly understood. Dot1L, a unique methyltransferase for H3K79, forms complexes with distinct sets of co-factors. To further understand the role of H3K79me in embryogenesis, we generated a mouse knockout of Mllt10, the gene encoding Af10, one Dot1L complex co-factor...
September 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931893/netrin-1-derived-from-the-ventricular-zone-but-not-the-floor-plate-directs-hindbrain-commissural-axons-to-the-ventral-midline
#20
Kenta Yamauchi, Maya Yamazaki, Manabu Abe, Kenji Sakimura, Heiko Lickert, Takahiko Kawasaki, Fujio Murakami, Tatsumi Hirata
Netrin-1 (Ntn1) emanating from the ventral midline has been thought to act as a long-range diffusible chemoattractant for commissural axons (CAs). However, CAs still grow towards the midline in the absence of the floor plate (FP), a glial structure occupying the midline. Here, using genetically loss-of-function approaches in mice, we show that Ntn1 derived from the ventricular zone (VZ), but not the FP, is crucial for CA guidance in the mouse hindbrain. During the period of CA growth, Ntn1 is expressed in the ventral two-thirds of the VZ, in addition to the FP...
September 20, 2017: Scientific Reports
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