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https://www.readbyqxmd.com/read/28904585/is-it-the-monster-teratoma-or-simply-meningomyelocele-our-experience-of-histological-surprise
#1
Suyash Singh, Jayesh Sardhara, Pradeep Sharma, Arun Kumar Srivastava, Kuntal Kanti Das, Kamlesh S Bhaisora, Anant Mehrotra, Awadhesh Kumar Jaiswal, Sanjay Behari, Raj Kumar
Teratomas are one of the most common tumors in newborn with excellent prognosis arises from totipotent primordial germ cells harboring two or three germ cell layers. The tumor has been titled "Great masquerade." The teratomas of sacrococcygeal region present with lower limb weakness, urinary or bowel obstruction, and swelling at lower back or intrauterine mass in ultrasound or complicated delivery. A 2-month-old male child presented with complaints of swelling over lumbosacral region with discharging punctum since birth...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28904581/split-notochord-syndrome-a-rare-variant
#2
Vidhu Dhawan, Kanchan Kapoor, Balbir Singh, Suman Kochhar, Alka Sehgal, Rima Dada
Split notochord syndrome represents an extremely rare and pleomorphic form of spinal dysraphism characterized by a persistent communication between the endoderm and the ectoderm, resulting in splitting or deviation of the notochord. It manifests as a cleft in the dorsal midline of the body through which intestinal loops are exteriorized and even myelomeningoceles or teratomas may occur at the site. A rare variant was diagnosed on autopsy of a 23(+4)-week-old fetus showing a similar dorsal enteric fistula and midline protruding intestinal loops in thoracolumbar region...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28894672/living-with-dead-spaces-closing-complex-posterior-midline-defects-with-midline-based-perforator-flaps
#3
Louis de Weerd, Tore K Solberg, Birgit Margrethe Falch, Sven Weum
No abstract text is available yet for this article.
August 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28882981/characteristics-of-a-nationwide-cohort-of-patients-presenting-with-isolated-hypogonadotropic-hypogonadism-ihh
#4
Marco Bonomi, Valeria Vezzoli, Csilla Gabriella Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzoccaro, Gianni Russo, Mirella Moro, Letizia Maria Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvatore Cannavò, Andrea M Isidori, Angela I Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Francesca Pregnolato, Mohammad Maghnie, Mario Maggi, Luca Persani
OBJECTIVE: IHH is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present altough information on their frequency are scanty, particularly according to the age of presentation. DESIGN: Observational cohort study carried out between January 2008-June 2016 within a national network of academic or general hospitals Methods: We performed a detailed phenotyping of 503 IHH patients with: 1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; 2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects...
September 7, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28862178/spectrum-of-prenatally-detected-central-nervous-system-malformations-neural-tube-defects-continue-to-be-the-leading-foetal-malformation
#5
Anjurani Siddesh, Geetika Gupta, Ram Sharan, Meenal Agarwal, Shubha R Phadke
BACKGROUND & OBJECTIVES: Prenatal diagnosis of malformations is an important method of prevention and control of congenital anomalies with poor prognosis. Central nervous system (CNS) malformations amongst these are the most common. The information about the prevalence and spectrum of prenatally detected malformations is crucial for genetic counselling and policymaking for population-based preventive programmes. The objective of this study was to study the spectrum of prenatally detected CNS malformations and their association with chromosomal abnormalities and autopsy findings...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28859712/long-term-olfactory-outcome-after-nasoseptal-flap-reconstructions-in-midline-skull-base-surgery
#6
Michael B Soyka, Carlo Serra, Luca Regli, Eva Meier, David Holzmann
BACKGROUND: The nasoseptal flap (NSF) is a universally used surgical technique to cover defects of the skull base after extended sinonasal surgery. Long-term follow-up of complications, sequelae, and smell function is largely unknown. OBJECTIVE: The main objective of this study was to investigate monorhinal olfaction after transsphenoidal skull base surgery. METHODS: Patients who underwent skull base surgery for midline lesions (craniopharyngioma and pituitary tumors) by using a NSF, also referred to as the Haddad flap, were assessed for their long-term outcome...
September 1, 2017: American Journal of Rhinology & Allergy
https://www.readbyqxmd.com/read/28856023/body-stalk-anomaly-antenatal-sonographic-diagnosis-of-this-rare-entity-with-review-of-literature
#7
Amandeep Singh, Jasmeet Singh, Kamlesh Gupta
Body stalk anomaly is a rare and severe malformation syndrome in which the exact pathophysiology and trigger factors are still unknown. Possible causes of body stalk anomaly include early amnion rupture with direct mechanical pressure and amniotic bands, vascular disruption of the early embryo, or an abnormality in the germinal disk. We present a case of body stalk anomaly diagnosed during antenatal sonographic evaluation at the first visit with the review of literature regarding this phenomenon. Sonographic features of the fetus included a severe midline defect of the fetal abdominal wall with a large extra-abdominal mass containing bowel and liver inside...
June 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/28840354/single-center-experience-with-the-modified-retromuscular-sugarbaker-technique-for-parastomal-hernia-repair
#8
L Tastaldi, I N Haskins, A J Perez, A S Prabhu, S Rosenblatt, M J Rosen
PURPOSE: Parastomal hernias are challenging to manage, and an optimal repair has yet to be defined. An open, modified, retromuscular Sugarbaker technique has recently been described in the literature as a technically feasible approach to parastomal hernia repair. This study evaluates our initial institutional experience with parastomal hernia repair with the aforementioned technique with respect to safety and durability. METHODS: All patients who underwent an open, modified retromuscular Sugarbaker parastomal hernia repair from 2014 through 2016 at our institution were identified...
August 24, 2017: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/28832796/transverse-sternal-split-a-safe-mini-invasive-approach-for-perventricular-device-closure-of-ventricular-septal-defect
#9
Pankaj Garg, Arvind Kumar Bishnoi, Ketav Lakhia, Jigar Surti, Sumbul Siddiqui, Parth Solanki, Himani Pandya
Objective: Perventricular device closure of ventricular septal defect through midline sternotomy avoids the cardiopulmonary bypass, however, lacks the cosmetic advantage. Perventricular device closure of ventricular septal defect with transverse split sternotomy was performed to add the cosmetic advantage of mini-invasive technique. Methods: Thirty-six pediatric patients with mean age 7.14±3.24 months and weight 5.00±0.88 kg were operated for perventricular device closure of ventricular septal defect through transverse split sternotomy in 4th intercostal space under transesophageal echocardiography guidance...
May 2017: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28817360/closing-the-gap-mouse-models-to-study-adhesion-in-secondary-palatogenesis
#10
K J Lough, K M Byrd, D C Spitzer, S E Williams
Secondary palatogenesis occurs when the bilateral palatal shelves (PS), arising from maxillary prominences, fuse at the midline, forming the hard and soft palate. This embryonic phenomenon involves a complex array of morphogenetic events that require coordinated proliferation, apoptosis, migration, and adhesion in the PS epithelia and underlying mesenchyme. When the delicate process of craniofacial morphogenesis is disrupted, the result is orofacial clefting, including cleft lip and cleft palate (CL/P). Through human genetic and animal studies, there are now hundreds of known genetic alternations associated with orofacial clefts; so, it is not surprising that CL/P is among the most common of all birth defects...
August 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28812464/congenital-diaphragmatic-hernia-with-liver-herniation-into-the-pericardial-sac-in-a-30-week-gestation-infant
#11
Nisha Patel, Christina Sollinger, Carl T D'Angio, Jeffrey M Vinocur, Kate G Ackerman, Philip J Katzman
Anterior diaphragmatic defects with pericardial involvement are extremely rare and diagnostically challenging entities encountered perinatally. While a majority of diaphragmatic defects occur in isolation, others are associated with multiple defects forming a complex of syndromes such as Pentalogy of Cantrell. Liver herniation into the pericardial sac poses a particular challenge and can mimic a pericardial tumor on prenatal ultrasound, yielding a different management course. The following case is an unusual presentation of a 30-week gestation female with an anterior midline diaphragmatic defect with liver herniation mimicking as a pericardial tumor, diagnosed at time of autopsy...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812462/severe-intrauterine-amputations-in-one-dichorionic-twin-with-pentalogy-of-cantrell-further-evidence-and-consideration-for-mechanical-teratogenesis
#12
Víctor M Salinas-Torres, Estivaliz A De La O-Espinoza, Rafael A Salinas-Torres
Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28807903/transgelin-expressing-myofibroblasts-orchestrate-ventral-midline-closure-through-tgf-%C3%AE-signalling
#13
Bashar Aldeiri, Urmas Roostalu, Alessandra Albertini, Jason Wong, Antonino Morabito, Giulio Cossu
Ventral body wall (VBW) defects are among the most common congenital malformations, yet their embryonic origin and underlying molecular mechanisms have remained poorly characterized. Although transforming growth factor beta (TGF-β) signalling is essential for VBW closure the responding cells are not known. Here we identify a population of migratory myofibroblasts at the leading edge of the closing VBW that express the actin-binding protein Transgelin (TAGLN) and TGF-β receptor (TGFβR). These cells respond to a temporally regulated TGF-β2 gradient originating from the epithelium of the primary body wall...
August 14, 2017: Development
https://www.readbyqxmd.com/read/28803895/periderm-life-cycle-and-function-during-orofacial-and-epidermal-development
#14
REVIEW
Nigel L Hammond, Jill Dixon, Michael J Dixon
Development of the secondary palate involves a complex series of embryonic events which, if disrupted, result in the common congenital anomaly cleft palate. The secondary palate forms from paired palatal shelves which grow initially vertically before elevating to a horizontal position above the tongue and fusing together in the midline via the medial edge epithelia. As the epithelia of the vertical palatal shelves are in contact with the mandibular and lingual epithelia, pathological fusions between the palate and the mandible and/or the tongue must be prevented...
August 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28795440/single-site-neural-tube-closure-in-human-embryos-revisited
#15
Bernadette S de Bakker, Stan Driessen, Bastiaan J D Boukens, Maurice J B van den Hoff, Roelof-Jan Oostra
Since the multi-site closure theory was first proposed in 1991 as explanation for the preferential localizations of neural tube defects, the closure of the neural tube has been debated. Although the multi-site closure theory is much cited in clinical literature, single-site closure is most apparent in literature concerning embryology. Inspired by Victor Hamburgers (1900-2001) statement that "our real teacher has been and still is the embryo, who is, incidentally, the only teacher who is always right", we decided to critically review both theories of neural tube closure...
August 10, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28763312/3q29-chromosomal-duplication-in-a-neonate-with-associated-myelomeningocele-and-midline-cranial-defects
#16
Marley B Lawrence, Alexandra Arreola, Michael Cools, Scott Elton, Karen S Wood
No abstract text is available yet for this article.
July 31, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28760657/the-e3-ubiquitin-ligase-mid1-trim18-promotes-atypical-ubiquitination-of-the-brca2-associated-factor-35-braf35
#17
Melania E Zanchetta, Luisa M R Napolitano, Danilo Maddalo, Germana Meroni
MID1/TRIM18 is a member of the TRIM family of ubiquitin E3 ligases characterized by the presence of a conserved RING-containing N-terminal tripartite motif. Mutations in the MID1 gene have been associated with the X-linked form of Opitz Syndrome, a developmental disorder characterized by midline defects and intellectual disability. The effect of MID1 E3 ligase activity within the cell and the role in the pathogenesis of the disease is still not completely unraveled. Here, we report BRAF35, a non-canonical HMG nuclear factor, as a novel MID1 substrate...
July 29, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28760031/minimally-invasive-direct-pars-repair-with-cannulated-screws-and-recombinant-human-bone-morphogenetic-protein-case-series-and-review-of-the-literature
#18
George M Ghobrial, Kenneth M Crandall, Anthony Lau, Seth K Williams, Allan D Levi
OBJECTIVE The objective of this study was to describe the use of a minimally invasive surgical treatment of lumbar spondylolysis in athletes by a fluoroscopically guided direct pars screw placement with recombinant human bone morphogenetic protein-2 (rhBMP-2) and to report on clinical and radiographic outcomes. METHODS A retrospective review was conducted of all patients treated surgically for lumbar spondylolysis via a minimally invasive direct pars repair with cannulated screws. Demographic information, clinical features of presentation, perioperative and intraoperative radiographic imaging, and postoperative data were collected...
August 2017: Neurosurgical Focus
https://www.readbyqxmd.com/read/28745929/molecular-and-cellular-mechanisms-of-palate-development
#19
C Li, Y Lan, R Jiang
Development of the mammalian secondary palate involves highly dynamic morphogenetic processes, including outgrowth of palatal shelves from the oral side of the embryonic maxillary prominences, elevation of the initially vertically oriented palatal shelves to the horizontal position above the embryonic tongue, and subsequently adhesion and fusion of the paired palatal shelves at the midline to separate the oral cavity from the nasal cavity. Perturbation of any of these processes could cause cleft palate, a common birth defect that significantly affects patients' quality of life even after surgical treatment...
April 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28733728/totally-extraperitoneal-approach-for-ventral-hernia
#20
Sante Capitano
BACKGROUND: In open surgery, extraperitoneal sublay mesh implantation is generally preferred to intraperitoneal placement, following the same principles as in "giant prosthetic reinforcement of the visceral sac" described for inguinal hernia repair [1, 2]. Miserez and Penninckx in 2002 described an endoscopic totally preperitoneal ventral hernia repair in a small cohort of 15 cases [3]. Unfortunately, this technique has not spread, probably because of the technical difficulties that require, but not for effectiveness...
July 21, 2017: Surgical Endoscopy
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