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https://www.readbyqxmd.com/read/28329999/bilateral-cystic-coloboma-with-microphtalmos-and-eyelid-agenesis-us-and-mri-findings
#1
Youssef Omor, Benjamin Dhaene, Veronique Toppet, Marie Cassart, Patrice Jissendi-Tchofo
INTRODUCTION: The combination of bilateral microphthalmos, cystic coloboma and eyelid agenesis is rare. The definite diagnosis of this malformation is established by fundoscopic examination and confirmed by imaging modalities such as ultrasonography (US) and magnetic resonance imaging (MRI). This disorder may be associated with specific chromosomal abnormalities. CASE REPORT: A 1-week-old male newborn was referred for bilateral eyelid agenesis. He was born at term by caesarean for foetal distress, after an uneventful gestation...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28329598/successful-treatment-of-melkersson-rosenthal-syndrome-with-dapsone-a-case-report-and-review-of-the-literature
#2
Nazan Emiroglu, Ozlem Su, Fatma Pelin Cengiz, Nahide Onsun
Melkersson-Rosenthal syndrome (MRS) is a rare disease characterized by a triad of relapsing or persistent orofacial edema, recurrent lower motor neuron facial nerve palsy and fissured tongue. Acute, painless, non-erythematosus orofacial edema is observed in all patients. We report a case of a 13-year-old girl who presented with a 2-year history of swelling of the upper lip, facial paralysis, and fissured tongue; she was treated successfully with dapsone.
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#3
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28327263/pit-and-fissure-sealant-retention-following-air-abrasion-preparation-with-bioactive-glass-and-aluminum-oxide-particles
#4
Maryam Khoroushi, Alireza Eshghi, Fatemeh Naderibeni
PURPOSE: Alumina air abrasion is an alternative for acid-etch technique for tooth preparation before placement of a fissure sealant. The aim of this study was to compare the retention of sealants placed subsequent to air abrasion with alumina and bioactive glass (BAG) particles. METHODS: Sixty-two 6-12 year old children were included in this study. Using a halfmouth design, the fissures were prepared using air abrasion with alumina particles on randomly assigned permanent mandibular or/and maxillary first molars on one side of the mouth (Group 1) and air abrasion with BAG on the contralateral side of the mouth (Group 2)...
September 15, 2016: Journal of Dentistry for Children
https://www.readbyqxmd.com/read/28322359/clinical-evaluation-of-a-fissure-sealant-placed-by-acid-etching-or-er-yag-laser-combined-with-acid-etching
#5
Basak Durmus, Figen Giray, Sertac Peker, Betul Kargul
PURPOSE: To evaluate the efficacy of conventional acid etching alone (acid etching) and Er:YAG laser combined with acid etching (laser + acid etching) on fissure sealant (FS) retention of first permanent molars (FPMs) after 18 months. MATERIALS AND METHODS: Using a split-mouth design in 51 children, a total of 204 FPMs were sealed with acid etching alone or laser plus acid etching (laser+acid). The retention of sealants and occurrence of caries were evaluated at 3, 6, 12, and 18 months...
March 20, 2017: Oral Health & Preventive Dentistry
https://www.readbyqxmd.com/read/28320161/circulating-autoantibodies-against-the-nr2-peptide-of-the-nmda-receptor-are-associated-with-subclinical-brain-damage-in-hypertensive-patients-with-other-pre-existing-conditions-for-vascular-risk
#6
S González-García, A González-Quevedo, Z Hernandez-Diaz, L Alvarez Camino, M Peña-Sanchez, A Cordero-Eiriz, M Brown, J A Gaya, M Betancourt-Losa, I Fernandez-Almirall, M C Menendez-Sainz, R Fernandez-Carriera
Arterial hypertension (HT) and other vascular pre-existing conditions (PEC) generate asymptomatic brain damage which increases the occurrence of stroke and cognitive decline. The aim of this work was to explore if serum antibodies against the NR2 subunit of the NMDA receptor (NR2Ab) could predict subclinical brain damage (SBD) in hypertensive patients with PEC. Forty seven neurologically asymptomatic hypertensive subjects were classified according to the number of PEC (retinopathy, overweight/obesity, diabetes mellitus and dyslipidemia)...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28318154/-ex-vivo-assessment-of-the-potency-of-optical-coherence-tomography-for-the-detection-of-early-occlusal-caries
#7
Dai Xiao-Hua, Yao Hui, Lian Xiaoli, Li Yanni, Wang Yingying, Liu Xiaobin, Xing Lu
OBJECTIVE: This study aimed to evaluate the potency of optical coherence tomography (OCT) to detect early occlusal caries compared with clinical visual examination. METHODS: Approximately 97 sites of occlusal fissures on 77 extracted accessional human teeth were scored by three examiners using conventional visual examination and OCT. Results of histological examination on these sites obtained by polarimicroscope served as a gold standard to analyze the sensitivity (SE), specificity (SP), positive predictive value (PPV), and negative predictive value (NPV)...
December 1, 2016: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28316926/apert-syndrome-with-s252w-fgfr2-mutation-and-characterization-using-phenomizer-an-indian-case-report
#8
Fulesh Kunwar, Shikha Tewari, Sonal R Bakshi
Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied. A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied...
January 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28315911/reproducibility-of-a-semi-quantitative-lobar-pulmonary-ventilation-and-perfusion-technique-using-spet-and-ct
#9
Esber N El-Barhoun, Ghee Chew, Benjamin Crouch, Barry Chatterton
OBJECTIVE: Evaluation of regional lung function is valuable prior to lung surgery in patients with chronic lung disease. Our aim was to evaluate the reproducibility of a locally developed single photon emission tomography/computed tomography (SPET/CT) programme between and within three observers in assessing lobar pulmonary volumes, perfusion and ventilation. SUBJECTS AND METHODS: Twelve lung transplantation candidates had VQ SPET and diagnostic CT to determine lobar pulmonary function and plan surgery...
March 20, 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28299225/thrombosis-of-the-azygos-anterior-cerebral-artery
#10
Camila Soares Moreira de Sousa, Carla Lorena Vasques Mendes de Miranda, Marcelo Coelho Avelino, Breno Braga Bastos, Rafael Soares Moreira de Sousa, Carla Valéria Vasques Mendes de Miranda
The azygos anterior cerebral artery is a rare variant, characterized by the absence of the anterior communicating artery and the union of two proximal segments of the anterior cerebral artery, forming a single trunk and ascending through the interhemispheric fissure. The incidence in the population varies from 0.3 to 2%. The presence of occlusion for this vessel causes bifrontal infarcts, with potentially devastating functional consequences, hence the importance of recognizing this anatomical variation in imaging exams...
2017: Case Reports in Radiology
https://www.readbyqxmd.com/read/28299014/deep-orbital-dermoid-cyst-bulging-into-the-superior-orbital-fissure-clinical-presentation-and-management
#11
Ravinder Kumar, Kapil Vyas, Gagan Jaiswal, Abhishek Bhargava, Jyoti Kundu
PURPOSE: To present a case of deep orbital dermoid cyst with emphasis on clinical presentation, imaging spectrum, differential diagnosis and management. CASE REPORT: A 28-year-old female was referred to our hospital with chief complaint of drooping of right eyelid and progressive headache. Ocular motility, visual acuity and fundus examination were normal. computed tomography (CT) and magnetic resonance imaging (MRI) revealed a well-defined, intraosseous deep orbital dermoid cyst (5...
January 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28294978/discriminative-features-in-three-autosomal-recessive-cutis-laxa-syndromes-cutis-laxa-iia-cutis-laxa-iib-and-geroderma-osteoplastica
#12
REVIEW
Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. Individuals with these conditions often present with cutis laxa, progeroid features, and hyperextensible joints...
March 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28285075/thermally-triggered-hydrogel-injection-into-bovine-intervertebral-disc-tissue-explants-induces-differentiation-of-mesenchymal-stem-cells-and-restores-mechanical-function
#13
A A Thorpe, G Dougill, L Vickers, N D Reeves, C Sammon, G Cooper, C L Le Maitre
We previously reported a synthetic Laponite® crosslinked pNIPAM-co-DMAc (L-pNIPAM-co-DMAc) hydrogel which promotes differentiation of mesenchymal stem cells (MSCs) to nucleus pulposus (NP) cells without additional growth factors. The clinical success of this hydrogel is dependent on: integration with surrounding tissue; the capacity to restore mechanical function; as well as supporting the viability and differentiation of delivered MSCs. Bovine NP tissue explants were injected with media (control), human MSCs (hMSCs) alone, acellular L-pNIPAM-co-DMAc hydrogel or hMSCs incorporated within the L-pNIPAM-co-DMAc hydrogel and maintained at 5% O2 for 6 weeks...
March 8, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28283869/endoscopic-approach-via-the-interhemispheric-fissure-the-role-of-an-endoscope-in-a-surgical-case-of-multiple-falcine-lesions
#14
Junya Yamaguchi, Tadashi Watanabe, Tetsuya Nagatani
BACKGROUND: For treating a patient with multiple falcine and parasagittal lesions, we believe that it is beneficial to resect the maximum possible number of lesions during one operation, even if some lesions are asymptomatic. This practice can potentially reduce the total number of operations during a patient's lifetime. METHODS: We provide an introduction of a concurrent endoscopic approach via the interhemispheric fissure. CONCLUSIONS: Applying this endoscopic approach concurrently with conventional microscopic surgery can enable the safe resection of as many lesions as possible during one operation...
March 11, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28281950/penetration-of-filled-and-unfilled-resin-sealants-on-different-enamel-substrates
#15
Kamila Rosamilia Kantovitz, Kelly Maria Silva Moreira, Fernanda Miori Pascon, Francisco Humberto Nociti, Cinthia P Machado Tabchoury, Regina Maria Puppin-Rontani
PURPOSE: To evaluate the penetration ratio of filled and unfilled resin-based sealants on different enamel substrates and pit and fissure morphologies. METHODS: Forty-eight occlusal enamel blocks obtained from impacted human third molars were randomly divided (n equals eight) according to enamel substrates (sound; caries-like lesion; caries-like lesion plus topical fluoride application) and sealant material (FluroShield; Helioseal Clear Chroma). Sealants were applied on the enamel surface...
November 15, 2016: Pediatric Dentistry
https://www.readbyqxmd.com/read/28281424/a-review-of-patients-with-glutaric-aciduria-type-1-at-inkosi-albert-luthuli-central-hospital-durban-south-africa
#16
R Govender, A Mitha, L Mubaiwa
Glutaric aciduria type 1 (GA1) is an organic acidaemia. The objective of this study was to describe the profile of patients diagnosed with GA1 at Inkosi Albert Luthuli Central Hospital, Durban, South Africa from 2007 to 2015. We identified 6 children (4 girls, 2 boys) in a retrospective review. The mean age at diagnosis was 12 months. Clinical findings on presentation were encephalopathic crises (n=4), hypotonia (n=4) and macrocephaly (n=5). Other complications included seizures (n=4), dystonia (n=3) and bulbar dysfunction (n=4)...
February 27, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28279989/fluid-signal-structures-in-the-cervical-spinal-cord-on-mri-anterior-median-fissure-versus-central-canal
#17
T A Tomsick, E Peak, L Wang
BACKGROUND AND PURPOSE: Hyperintense fluid-signal anterior median fissure and hyperintense foci resembling the central canal are seen on cervical spine axial T2 MR imaging. They may also be associated with a channel-like T2-hyperintense craniocaudad line on sagittal images. We hypothesized that the hyperintense foci and the sagittal line may represent the base of the anterior median fissure. MATERIALS AND METHODS: In this exploratory study, 358 cervical MR images were analyzed for recording and comparing the incidence/numbers of hyperintense foci, anterior median fissure, and sagittal line as hyperintense foci, anterior median fissure, and sagittal line per patient when present alone or together, both with and without the sagittal line...
March 9, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28275842/the-measurement-of-palpebral-fissure-height-using-the-intersection-angle-the-r%C3%A3-al-angle-between-the-meeting-points-of-the-upper-eyelid-and-the-edge-of-the-cornea
#18
Hun Joo Lee, Soo Shin Kim
BACKGROUND: We evaluated a new palpebral fissure height measurement to evaluate medial, lateral, and overall ptosis. METHODS: We photographed 250 Koreans (44 males, 206 females) and evaluated their Réal 1 angle (angle between the meeting points of the upper eyelid and the corneal edge), Réal 2 angle (angle between the meeting point of the upper eyelid, medial corneal edge and a vertical line through the center of the pupil), Réal 3 angle (angle between the meeting point of the upper eyelid, lateral corneal edge and a vertical line through the center of the pupil), and Réal 4 angle (Réal 2-Réal 3)...
March 8, 2017: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/28274000/lateral-anal-sphincterotomy-for-chronic-anal-fissures-a-comparison-of-outcomes-and-complications-under-local-anaesthesia-versus-spinal-anaesthesia
#19
Ravikumar Manoharan, Tarun Jacob, Santosh Benjamin, Sumonth Kirishnan
INTRODUCTION: Fissure-in-Ano is one of the common and most painful anorectal conditions encountered in surgical practice. Inspite of several conservative treatment options, surgical treatment in the form of Lateral Anal Spincterotomy (LAS) remains the gold standard of treatment for Chronic Anal Fissures (CAF). However, LAS is often done under spinal or general anaesthesia incurring huge treatment costs and hospital stay. AIM: To study if LAS can be treated with Local Anaesthesia (LA) thereby, reducing the costs and the anaesthetic risk to patients with no significant change in the surgical ease or clinical outcome...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28271996/multi-detector-computed-tomography-mdct-findings-of-seven-cases-with-spontaneous-regression-of-hepatocellular-carcinoma
#20
Adel El-Badrawy
PURPOSE: To review Multi-detector CT findings of seven cases with spontaneous regression of hepatocellular carcinomas (HCC). MATERIALS AND METHODS: This retrospective study included 7 patients confirmed with diagnosis of HCC. Triphasic CT scan using multi-detector CT scanner was done for all patients. They were 2 women and 5 men. 1st patient presented with metastatic HCC underwent fine needle aspiration cytology (FNAC) from vertebral metastasis. 2nd patient underwent only one session of trans-arterial chemo-lipidol...
January 2017: Gulf Journal of Oncology
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