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https://www.readbyqxmd.com/read/27923942/two-rare-vascular-rings-with-ductal-origin-of-the-left-pulmonary-artery-a-previously-unrecognized-syndrome
#1
Poonam P Thankavel, Kristine J Guleserian, Robert H Anderson
We report two neonates with distal ductal origin of the left pulmonary artery who also had rare vascular rings comprised of a left aortic arch and right arterial duct with a midline/rightward descending aorta. To the best of our knowledge, this association has not previously been described, although other abnormalities of the left pulmonary artery in the setting of vascular rings have been reported. We review the embryology, utility of imaging, and clinical course.
December 6, 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27920806/hereditary-multiple-exostoses-a-review-of-clinical-appearance-and-metabolic-pattern
#2
REVIEW
Giovanni Beltrami, Gabriele Ristori, Guido Scoccianti, Angela Tamburini, Rodolfo Capanna
Hereditary multiple exostoses (HME) is an inherited genetic condition characterized by the presence of multiple exostoses (osteochondromas). MHE is a relatively rare autosomal dominant disorder, mainly caused by loss of function mutations in two genes: exostosin-1 (EXT1) and exostosin-2 (EXT2). These genes are linked to heparan sulfate (HS) synthesis, but the specific molecular mechanism leading to the disruption of the cartilage structure and the consequent exostoses formation is still not resolved. The aim of this paper is to encounter the main aspects of HME reviewing the literature, in order to improve clinical features and evolution, and the metabolic-pathogenetic mechanisms underlying...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27912798/bilateral-anomalous-drainage-of-the-posterior-divisions-of-renal-veins-into-the-azygos-venous-system-in-a-20-year-old-woman-a-case-report
#3
Pedro Pallangyo, Frederick Lyimo, Paulina Nicholaus, Stephano Masatu, Mohamed Janabi
BACKGROUND: Renal vein anomalies are relatively infrequent and generally asymptomatic. Preoperative knowledge of such variants is, however, of paramount importance in several angiographic and surgical procedures including renal venography, renal vein sampling, spermatic embolization, and renal transplantation. Inadequate knowledge and failure to recognize such anatomic variations may lead to several operative hazards including hemorrhage, nephrectomy, and even death. CASE PRESENTATION: We report a case of bilateral anomalous drainage of the posterior divisions of renal veins into the azygos venous system in a 20-year-old woman of African descent from Tanzania who presented to us with a 12-year history of recurrent anemia...
December 3, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27909623/distribution-of-interstitial-cells-of-cajal-in-the-bladders-of-fetal-rats-with-retinoic-acid-induced-myelomeningocele
#4
Ali Tekin, Osman Zeki Karakuş, Gülce Hakgüder, Oğuz Ateş, Erdener Özer, Mustafa Olguner, Feza Miraç Akgür
OBJECTIVE: Myelomeningocele (MMC) is one of the most common reason of neurogenic bladder dysfunction in children. Although neurogenic bladder dysfunction occurrence is related with bladder innervation, also there are some changes seen in the smooth muscle and neural cells of the bladder. Interstitial cells of Cajal (ICC) are the pacemaker cells found in organs with peristaltic activity. Although it has been shown that ICC are diminished in the rat urinary bladder with traumatic spinal cord injury, there is no data about ICC in fetal rat bladders with MMC...
December 2016: Turkish Journal of Urology
https://www.readbyqxmd.com/read/27908603/patenting-medical-diagnosis-methods-in-europe-stanford-university-and-time-lapse-microscopy
#5
Sigrid Sterckx, Julian Cockbain, Guido Pennings
In 2013, a European Patent for the technique of time-lapse microscopy was granted by the European Patent Office (EPO) to Stanford University and was subsequently opposed by Unisense FertiliTech A/S and by the European Society for Human Reproduction and Embryology (ESHRE), Sigrid Sterckx, Julian Cockbain and Guido Pennings. ESHRE et al.'s opposition was based on the argument that Stanford's patent was directed to a method of medical diagnosis, methods that are excluded from patentability by Article 53(c) of the European Patent Convention...
November 18, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27903118/frontal-dermoid-cyst-coexisting-with-suprasellar-craniopharyngioma-a-spectrum-of-ectodermally-derived-epithelial-lined-cystic-lesions
#6
Hussam Abou-Al-Shaar, Muhammad M Abd-El-Barr, Hasan A Zaidi, Eleanor Russell-Goldman, Rebecca D Folkerth, Edward R Laws, E Antonio Chiocca
There is a wide group of lesions that may exist in the sellar and suprasellar regions. Embryologically, there is varying evidence that many of these entities may in fact represent a continuum of pathology deriving from a common ectodermal origin. The authors report a case of a concomitant suprasellar craniopharyngioma invading the third ventricle with a concurrent frontal lobe cystic dermoid tumor. A 21-year-old man presented to the authors' service with a 3-day history of worsening headache, nausea, vomiting, and blurry vision...
December 2016: Neurosurgical Focus
https://www.readbyqxmd.com/read/27902954/multi-recurrent-invasive-ameloblastoma-a-surgical-challenge
#7
Fatemah Faras, Fawaz Abo-Alhassan, Yona Israël, Barbara Hersant, Jean-Paul Meningaud
INTRODUCTION: Ameloblastomas are rare head and neck tumors, and yet the most common odontogenic neoplasms. They account for 1% and 11% of all head and neck and odontogenic tumors respectively. Embryologically, they originate from remnants of odontogenic epithelium. Their aggressive, destructive nature, as well as their anticipated high rate of recurrence, even after en bloc resection, poses a surgical predicament. PRESENTATION: We present a case of a 56 year-old Asian female with a multi-recurrent invasive ameloblastoma...
November 21, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27899160/physiopathology-of-vesico-ureteral-reflux
#8
REVIEW
Salvatore Arena, Roberta Iacona, Pietro Impellizzeri, Tiziana Russo, Lucia Marseglia, Eloisa Gitto, Carmelo Romeo
Vescico-Ureteral Reflux (VUR) is a common condition in childhood, caused by a congenital anomaly at the Vescico-Ureteral Junction (VUJ) level. It seems that the main cause could be an abnormal embryological development occurred during the early stage of fetal life.Refluxing ureteral endings show structural and functional anomalies: previous studies have shown a significant decrease in alfa actin, miosin and desmin contents as well as an high rate of atrophy and muscular degeneration with disorganized muscular fibres...
November 29, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27896161/distinct-presentations-of-hernia-of-umbilical-cord
#9
REVIEW
Bilal Mirza, Waqas Ali
Hernia of umbilical cord is a well-known entity which presents with herniation of small bowel into the proximal part of umbilical cord. It has very good prognosis after surgical repair. Occasionally, it can have distinct presentations and varied malformations at the umbilicus which have bearing on the course of treatment and final outcome. Herein, we describe various presentations and malformations associated with hernia of umbilical cord. Embryological extrapolation is attempted for the malformations at umbilicus...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895556/neurosensory-differentiation-and-innervation-patterning-in-the-human-fetal-vestibular-end-organs-between-the-gestational-weeks-8-12
#10
Lejo Johnson Chacko, Elisabeth J Pechriggl, Helga Fritsch, Helge Rask-Andersen, Michael J F Blumer, Anneliese Schrott-Fischer, Rudolf Glueckert
Balance orientation depends on the precise operation of the vestibular end organs and the vestibular ganglion neurons. Previous research on the assemblage of the neuronal network in the developing fetal vestibular organ has been limited to data from animal models. Insights into the molecular expression profiles and signaling moieties involved in embryological development of the human fetal inner ear have been limited. We present an investigation of the cells of the vestibular end organs with specific focus on the hair cell differentiation and innervation pattern using an uninterrupted series of unique specimens from gestational weeks 8-12...
2016: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/27895540/midline-craniofacial-masses-in-children
#11
REVIEW
Renae D Van Wyhe, Edward S Chamata, Larry H Hollier
Nasal dermoids, encephaloceles, and gliomas are rare congenital lesions that result from improper embryologic development. The differentiation between them and a firm understanding of their pathology is necessary to avoid unnecessary complications. In view of their potential intracranial connection, prompt diagnosis and treatment are paramount. The authors review the embryology, diagnoses, radiologic work-up, surgical management, and complications of these midline craniofacial masses in children.
November 2016: Seminars in Plastic Surgery
https://www.readbyqxmd.com/read/27890866/claims-for-fertility-interventions-a-systematic-assessment-of-statements-on-uk-fertility-centre-websites
#12
E A Spencer, K R Mahtani, B Goldacre, C Heneghan
OBJECTIVES: Fertility services in the UK are offered by over 200 Human Fertilisation and Embryology Authority (HFEA)-registered NHS and private clinics. While in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI) form part of the National Institute for Health and Care Excellence (NICE) guidance, many further interventions are offered. We aimed to record claims of benefit for interventions offered by fertility centres via information on the centres' websites and record what evidence was cited for these claims...
November 27, 2016: BMJ Open
https://www.readbyqxmd.com/read/27890351/unilaminar-follicular-cells-transiently-express-galectin-3-during-ovarian-folliculogenesis-in-pigs
#13
Seung-Dam Heo, Changnam Park, Jeongtae Kim, Meejung Ahn, Taekyun Shin
The localization of galectin-3, a β-galactoside-binding animal lectin, was immunohistochemically studied in the ovaries of pigs to determine its expression in ovarian folliculogenesis. Various stages of ovarian follicles were identified in the ovaries of adult pigs. Galectin-3 was immunostained in the squamous follicular cells surrounding oocytes in primordial follicles and in the unilaminar granulosa cells of primary follicles, but not in oocytes of multilaminar follicles (including primary, secondary, and tertiary Graafian follicles)...
November 17, 2016: Tissue & Cell
https://www.readbyqxmd.com/read/27890237/mosaic-disorders-of-the-pi3k-pten-akt-tsc-mtorc1-signaling-pathway
#14
REVIEW
Neera Nathan, Kim M Keppler-Noreuil, Leslie G Biesecker, Joel Moss, Thomas N Darling
Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectively. Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Distinct features observed in these mosaic conditions in part reflect differences in embryological timing or tissue type harboring the mutant cells...
January 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/27890188/imaging-of-the-central-skull-base
#15
REVIEW
Lindsey M Conley, C Douglas Phillips
The skull base is a complex bony and soft tissue interface that is divided anatomically into compartments. This article will focus specifically on the central skull base, which has a complex embryologic development and anatomy. Multiple entities from notochord remnants, neoplasm, infection, and other abnormalities may occur, and imaging is critical for depicting skull base pathology.
January 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/27888831/-extranasal-glioma-surgery-in-a-newborn-a-case-report
#16
Emel Cadallı Tatar, Gökçe Aksoy Yıldırım, Kemal Keseroğlu, Ali Özdek, Güleser Saylam, Mehmet Hakan Korkmaz, Reyhan Polat
Nasal gliomas are rarely seen, congenital, benign and nonhereditary lesions. These are not true tumors that occur due to extradural malposition of ectopic glial tissue during embryologic development. These are generally diagnosed during childbirth and may have an intracranial extension with fibrous stalk. Treatment of these masses that cause nasal obstruction and cosmetic deformity according to location, is total excision. In this case report, we present an extranasal glioma case whose surgery was done when she was 11 days old...
September 2016: Kulak Burun Boğaz Ihtisas Dergisi: KBB, Journal of Ear, Nose, and Throat
https://www.readbyqxmd.com/read/27888190/tfap2-and-sox1-2-3-cooperatively-specify-ectodermal-fates-in-ascidian-embryos
#17
Kaoru S Imai, Hiroki Hikawa, Kenji Kobayashi, Yutaka Satou
Epidermis and neural tissues differentiate from the ectoderm in animal embryos. While epidermal fate is thought to be induced in vertebrate embryos, embryological evidence has indicated that no intercellular interactions during early stages are required for epidermal fate in ascidian embryos. To test this hypothesis, we determined the gene regulatory circuits for epidermal and neural specification in the ascidian embryo. These circuits started with Tfap2-r.b and Sox1/2/3, which are expressed in the ectodermal lineage immediately after zygotic genome activation...
November 25, 2016: Development
https://www.readbyqxmd.com/read/27885151/sushruta-father-of-plastic-surgery-in-benares
#18
Khushbir Bath, Sourabh Aggarwal, Vishal Sharma
Sushruta has been regarded as one of the pioneers of surgery. He performed procedures with crude surgical instruments that paved the path for today's operations. However, his existence is shrouded in myth and mystery. Sushruta belonged to a rich heritage of learned scholars and practiced and taught surgery at Benares University around 600BC. His work is assembled into a monumental thesis, possibly the first text book on surgery, the 'Sushruta Samhita' where he describes surgical instruments, procedures, illnesses, medicinal plants and preparation, dissection and the study of human anatomy, embryology and fractures...
November 24, 2016: Journal of Medical Biography
https://www.readbyqxmd.com/read/27884878/comparison-of-3-different-types-of-spinal-arteriovenous-shunts-below-the-conus-in-clinical-presentation-radiologic-findings-and-outcomes
#19
T Hong, J E Park, F Ling, K G terBrugge, M Tymianski, H Q Zhang, T Krings
BACKGROUND AND PURPOSE: Spinal arteriovenous shunts below the conus constitute 3 types of lesions, which have previously been mainly described in case reports, given their rarity, and are sometimes misdiagnosed. The purpose of this study was to describe the features of each type and compare these types as to epidemiologic features, clinical and radiologic presentations, treatment, and outcomes in a consecutive series of 48 cases. MATERIALS AND METHODS: The prospectively collected data bases of 2 referral centers for spinal vascular lesions were retrospectively reviewed...
November 24, 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/27882769/-current-issues-of-reproductive-medicine-in-the-czech-republic
#20
P Ventruba, J Žáková, M Ješeta, D Rumpík, M Brandejská, I Crha, D Hlinka, L Jelínková, E Oráčová, J Pavelková, K Řežábek, K Veselá
INTRODUCTION: During the 25th symposium of assisted reproduction in Brno was lunch time organised as the lunch table discussion on the selected topics of assisted reproduction. More than 150 specialists reviewed themes related to gynecology and embryology.Discussed topics: Lunch table discussion covered the following topics: (1) Cross-border health care in assisted reproduction; (2) Indication for PGS (preimplantation genetic screening) in the context of actual information; (3) Does ovarian stimulation belong to the ambulance of registering gynecologists? (4) Therapy with clomifen - only for IVF specialists? (5) How and with whom should psychological support be directed during IVF? (6) Stimulation in women with low ovarian reserve; (7) Is basic semen analyses sufficient? (8) Time-lapse systems as relevant markers of embryonic development; (9) How to be oriented with choices of media and consumables in the IVF lab, and (10) "Freeze All" - is this new trend in cryopreservation suitable for all? CONCLUSIONS: Panel conclusions were presented during the afternoon session, which had great attendance, featured lively commentary, and produced some definitive consensus...
2016: Ceská Gynekologie
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