2,714 results match your criteria Ptosis Congenital


Ophthalmologic findings in the Cornelia de Lange syndrome.

Ophthalmic Genet 2019 Feb 15:1-6. Epub 2019 Feb 15.

a Sidney Kimmel Medical College , Thomas Jefferson University , Philadelphia , Pennsylvania , USA.

Background: Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by multisystem abnormalities, including distinct ophthalmologic findings. In recent years, advances in molecular genetics have begun to provide new insight into the characterization of these clinical features and the genetic basis of the syndrome.

Materials And Methods: We included 37 articles that were identified through an electronic search in PubMed and through the reference lists of previously conducted reviews. Read More

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https://www.tandfonline.com/doi/full/10.1080/13816810.2019.1
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http://dx.doi.org/10.1080/13816810.2019.1571617DOI Listing
February 2019
9 Reads

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J Neurol 2019 Feb 14. Epub 2019 Feb 14.

Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Marchioninistrasse 17, 81377, Munich, Germany.

Collagen XIII is a non-fibrillar transmembrane collagen which has been long recognized for its critical role in synaptic maturation of the neuromuscular junction. More recently, biallelic COL13A1 loss-of-function mutations were identified in three patients with congenital myasthenic syndrome (CMS), a rare inherited condition with defective neuromuscular transmission, causing abnormal fatigability and fluctuating muscle weakness and often successfully treated with acetylcholinesterase inhibitors. Here we report six additional CMS patients from three unrelated families with previously unreported homozygous COL13A1 loss-of-function mutations (p. Read More

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http://dx.doi.org/10.1007/s00415-019-09239-7DOI Listing
February 2019
1 Read

Unilateral Congenital Nasolacrimal Duct Obstruction, Is It An Amblyogenic Factor?

Middle East Afr J Ophthalmol 2018 Jul-Dec;25(3-4):156-160

Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Background/aims: To evaluate the refractive status, axial length, and prevalence of amblyopia among Saudi children with unilateral congenital nasolacrimal duct obstruction (UCNLDO) compared to the unaffected fellow eye.

Methods: A retrospective chart review was performed for children with UCNLDO at two eye institutes in Eastern Saudi Arabia from 2009 to 2015. The outcomes of syringing determined UNCLDO. Read More

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http://www.meajo.org/text.asp?2018/25/3/156/249327
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http://dx.doi.org/10.4103/meajo.MEAJO_3_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348941PMC
February 2019
1 Read

Outcome of Single Stage Correction of High Variety of Anorectal Malformation.

Mymensingh Med J 2019 Jan;28(1):8-14

Dr Sangul Islam, Medical Officer, SOPD, Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh.

The standard treatment of high variety anorectal malformation (ARM) is the staged approach. A growing interest in one stage correction of high variety ARM was noted recently. The aim of this study was to examine the feasibility, safety and outcome of single stage correction of High variety ARM. Read More

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January 2019

Pre-aponeurotic Fat Prolapse Following Levator Resection for Congenital Ptosis.

J Pediatr Ophthalmol Strabismus 2019 Feb 8;56:e1-e4. Epub 2019 Feb 8.

The authors describe three children who developed excess overhanging upper eyelid tissue following unilateral levator resection for congenital ptosis. This was thought to be pre-aponeurotic fat herniation. A second procedure, a variation of sulcoplasty, was performed at a mean 4. Read More

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http://dx.doi.org/10.3928/01913913-20181017-02DOI Listing
February 2019

Incidence and risk factors of cardiac abnormalities in patients with idiopathic scoliosis.

World Neurosurg 2019 Feb 7. Epub 2019 Feb 7.

Department of Orthopaedic Surgery, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, China. Electronic address:

Objective: To investigate the incidence of cardiac abnormalities in patients with idiopathic scoliosis and identify risk factors related to cardiac abnormalities.

Methods: A cohort of 531 patients with idiopathic scoliosis requiring surgical treatment in our hospital from March 2009 to August 2017 were recorded. Clinical data including medical records, radiograph, and echocardiogram were collected. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.01.177DOI Listing
February 2019
1 Read

Complete polysomnographic parameters in infants with severe laryngomalacia prior to and after supraglottoplasty.

Int J Pediatr Otorhinolaryngol 2019 Jan 26;119:131-135. Epub 2019 Jan 26.

Department of Pediatric Otolaryngology, Hospital Infantil de México, Federico Gómez, Mexico.

Introduction: Laryngomalacia is the most common congenital laryngeal anomaly. Because of supraglottic prolapse, laryngomalacia may be associated with obstructive sleep apnea (OSA) and sleep disturbances. The effects of OSA and sleep disorders in children include failure to thrive, cognitive and behavioral disturbances, cardiovascular compromise, and an association with sudden infant death syndrome. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.01.033DOI Listing
January 2019
2 Reads

[ORAI1 variation induced combined immunodeficiency: a case report and literature review].

Zhonghua Er Ke Za Zhi 2019 Feb;57(2):142-145

Department of Pediatrics, Xiangya Hospital of Central South University; Hunan Intellectual and Developmental Disabilities Research Center, Changsha 410008, China.

To summarize the clinical manifestations and gene variations of combined immunodeficiency caused by ORAI1 variation with a case report and literature review. The clinical data of the patient who was diagnosed with ORAI1 variation caused combined immunodeficiency in the Department of Pediatrics in Xiangya Hospital of Central South University in February 2018 were extracted and analyzed. The literature till August 2018 was searched with key words of 'ORAI1', and 'immunodeficiency' in both English and Chinese in the database of China national knowledge infrast ructure (CNKI), Wanfang and Pubmed. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2019.02.015DOI Listing
February 2019
1 Read

Bone wax migrates to the orbit in a patient with a frontal sinus abnormality: a case report.

BMC Ophthalmol 2019 Jan 24;19(1):29. Epub 2019 Jan 24.

Department of Ophthalmology, the 2nd Xiangya Hospital, Central South University, Changsha, 410011, Hunan Province, China.

Background: Bone wax is the most widely used hemostatic bone sealant because of its availability, ease of use, immediate action, and minimal adverse effects. Several complications have been reported to be associated with the use of bone wax, such as infection, osteohypertrophy, pain, granuloma formation, allergic reaction, and thrombosis. Here, we present a rare complication, namely, bone wax migration, which developed after a craniotomy on a patient who had a frontal sinus abnormality. Read More

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http://dx.doi.org/10.1186/s12886-019-1037-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345031PMC
January 2019
2 Reads

Incidence and Ocular Features of Pediatric Myasthenias.

Am J Ophthalmol 2019 Jan 14. Epub 2019 Jan 14.

Department of Ophthalmology. Electronic address:

Purpose: To report the incidence, demographics, and ocular findings of children with myasthenia DESIGN: Retrospective cohort study METHODS: The medical records of all children (< 19 years) examined at Mayo Clinic with any form of myasthenia from January 1 1966, through December 31, 2015, were retrospectively reviewed.

Results: A total of 364 children were evaluated during the study period, of which 6 children were residents of the Olmsted County at the time of their diagnosis, yielding an annual age- and sex-adjusted incidence of 0.35 per 100,000 <19 years, or 1 in 285,714 <19 years. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00029394193001
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http://dx.doi.org/10.1016/j.ajo.2019.01.004DOI Listing
January 2019
5 Reads

Unexpected Progression of Tonsillar Herniation in Two Pediatric Cases with Chiari Malformation Type I and Review of the Literature.

Pediatr Neurosurg 2018 Dec 21:1-6. Epub 2018 Dec 21.

Background: Chiari malformation type 1 (CM-1) is a generally congenital, rarely acquired disease characterized with 5 mm or more displacement of cerebellar tonsils through foramen magnum.

Methods: Here, we report about 2 patients with CM-1 progressed in the degree of tonsillar herniation from our clinic, whereas increasing in prolapse of tonsillar herniation after diagnosis is extremely uncommon.

Results: The first patient aged 17 years was diagnosed with CM-1 in 2009 and was operated due to progression of 5 mm radiologically and worsening symptoms in 2014. Read More

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http://dx.doi.org/10.1159/000495066DOI Listing
December 2018

Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran.

Avicenna J Med Biotechnol 2018 Oct-Dec;10(4):273-276

Genome Research Division, Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 KL, Nijmegen, The Netherlands.

Congenital Fibrosis of the Extra Ocular Muscles1 (CFEOM1) is an autosomal dominant condition, caused by mutation in the and . It is characterized by congenital non-progressive restrictive ophthalmoplegia and ptosis. Mutational analysis of the known genes in such rare diseases by Sanger sequencing not only prevents wasting the time and expenses but also speeds diagnosis process, genetic counseling, and the possibility of prenatal diagnosis. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6252030PMC
December 2018
7 Reads

Exposure, entropion, and bilateral corneal ulceration in a newborn as a manifestation of chromosome 22 q11.2 duplication syndrome.

Am J Ophthalmol Case Rep 2019 Mar 4;13:16-19. Epub 2018 Nov 4.

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.

Purpose: Chromosome 22q11.2 micro-duplication syndrome (MDS), is a rare autosomal dominant condition, with a highly variable phenotype that ranges from unremarkable and asymptomatic, to fatal due to cardiovascular defects. Hypertelorism, downslanting palpebral fissures, superior displacement of the eyebrows, and ptosis are the most commonly reported ocular manifestations. Read More

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http://dx.doi.org/10.1016/j.ajoc.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6247406PMC
March 2019
1 Read

A Case of Single Atrium, Mitral Valve Prolapse Spontaneously - Closed Inlet VSD with Polydactyly.

Mymensingh Med J 2018 Oct;27(4):894-897

Dr Ranjan Kumar Majumder, Department of Cardiology, Kumudini Women's Medical College, Mirzapur, Tangail, Bangladesh.

Single Atrium is a complex cardiac anomaly and generally a component of certain congenital syndromes. It is extremely rare for SA to be observed as an isolated defect. We report here a 14 year-old male patient with SA with MVP with spontaneously-closed inlet-VSD with polydactyly. Read More

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October 2018
1 Read

Factors related to amblyopia in congenital ptosis after frontalis sling surgery.

BMC Ophthalmol 2018 Nov 21;18(1):302. Epub 2018 Nov 21.

Department of Ophthalmology, Kaohsiung Veterans General Hospital, 386 Ta-Chung 1st RD, Kaohsiung, 81346, Taiwan.

Background: Amblyopia is a main concern in children undergoing frontalis sling surgery for repairing congenital ptosis. This study aimed to evaluate factors related to amblyopia in children undergoing frontalis sling surgery.

Methods: IRB-approved retrospective review of children under the age of 12 who received frontalis sling surgery. Read More

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http://dx.doi.org/10.1186/s12886-018-0962-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249929PMC
November 2018
2 Reads

Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults.

Pediatr Cardiol 2018 Nov 11. Epub 2018 Nov 11.

Department of Nursery, Medical University of Gdansk, Gdansk, Poland.

Marfan syndrome (MFS) is a connective tissue disorder characterized by a broad range of clinical manifestations. Cardiovascular involvement is the most life-threatening aspect of the syndrome. Although abnormalities within the cardiovascular system in adults are well documented, there is still a paucity of data regarding manifestation of MFS in childhood. Read More

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http://link.springer.com/10.1007/s00246-018-2025-2
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http://dx.doi.org/10.1007/s00246-018-2025-2DOI Listing
November 2018
11 Reads

Transition of care: a growing concern in adult patients born with colorectal anomalies.

Pediatr Surg Int 2019 Feb 3;35(2):233-237. Epub 2018 Nov 3.

Department of Pediatric Surgery, International Center for Colorectal and Urogenital Care, Children's Hospital Colorado, University of Colorado, 13123 East 16th Avenue, Anschutz Medical Campus, Box 323, Aurora, CO, 80045, USA.

Purpose: Traditionally, the care of children and adults has been arbitrarily separated into pediatric and adult medicine and surgery. Despite progress in pediatric surgical techniques, patients born with congenital anomalies still suffer from significant functional sequelae, which persist into adulthood. We aim to describe some of the most common problems experienced by adult patients with congenital colorectal malformations. Read More

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http://link.springer.com/10.1007/s00383-018-4401-7
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http://dx.doi.org/10.1007/s00383-018-4401-7DOI Listing
February 2019
12 Reads

Universal ocular screening of 481 infants using wide-field digital imaging system.

BMC Ophthalmol 2018 Oct 30;18(1):283. Epub 2018 Oct 30.

Department of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, 1 Dongjiaominxiang, Dongcheng District, Beijing, 100730, China.

Background: Universal ocular screening of infants is not a standard procedure in children's health care system in China. This pilot study investigated prevalence of ocular abnormalities of 6 weeks-age infants using wide-field digital imaging system.

Methods: Infants aged 6 weeks around were consecutively enrolled in a public hospital between April 2015 and August 2016. Read More

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https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12
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http://dx.doi.org/10.1186/s12886-018-0943-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208088PMC
October 2018
16 Reads

Validation of Quantitative 3-Dimensional Transesophageal Echocardiography Mitral Valve Analysis Using Stereoscopic Display.

J Cardiothorac Vasc Anesth 2019 03 11;33(3):732-741. Epub 2018 Aug 11.

Department of Anesthesia and Pain Management, Toronto General Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada. Electronic address:

Objective: The use of 3-dimensional (3D) transesophageal echocardiography (TEE) in perioperative evaluation of the mitral valve (MV) is increasing progressively, including the use of 3D MV models for quantitative analysis. However, the use of 3D MV models in clinical practice still is limited by the need for specific training and the long time required for analysis. A new stereoscopic visualization tool (EchoPixel True 3D) allows virtual examination of anatomic structures in the clinical setting, but its accuracy and feasibility for intraoperative use is unknown. Read More

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http://dx.doi.org/10.1053/j.jvca.2018.08.013DOI Listing
March 2019
2 Reads

Modified Combined Fascia Sheath and Levator Muscle Complex Suspension With Müller Muscle Preservation on Treating Severe Congenital Ptosis.

Ann Plast Surg 2019 Jan;82(1):39-45

Background: This study aims to evaluate the effect of a modified approach on severe congenital ptosis treatment.

Methods: Through anterior approach, Müller muscle was preserved, meanwhile the upper tarsus was suspended to combined fascia sheath (CFS) and levator muscle (LM) complex. The main outcome measures included marginal reflex distance1 (MRD1), palpebral fissure height (PFH), MRD1 regression, MRD1 improvement, and patient self-satisfaction. Read More

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http://Insights.ovid.com/crossref?an=00000637-900000000-9720
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http://dx.doi.org/10.1097/SAP.0000000000001657DOI Listing
January 2019
8 Reads
1.460 Impact Factor

Surgical treatment of severe congenital ptosis using deep temporal fascia.

Orbit 2018 Oct 16:1-5. Epub 2018 Oct 16.

a Ophthalmology Department , Bambino Gesù Children's Hospital, IRCCS , Rome , Italy.

Purpose: To evaluate the surgical outcome of a frontalis sling using deep temporal fascia in the treatment of severe congenital ptosis (SCP).

Methods: A retrospective, interventional case series was performed. The study involved 25 patients with SCP (>4 mm). Read More

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https://www.tandfonline.com/doi/full/10.1080/01676830.2018.1
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http://dx.doi.org/10.1080/01676830.2018.1528617DOI Listing
October 2018
15 Reads

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.

Neurology 2018 Nov 5;91(19):e1770-e1777. Epub 2018 Oct 5.

From the Department of Neurology (J.C.K., M.M., D.S., X.-M.S., A.G.E., T.L.), Mayo Clinic, Rochester, MN; and Department of Neurology (J.C.K.), Auckland City Hospital, New Zealand.

Objective: To investigate the diagnostic challenges of congenital myasthenic syndromes (CMS) in adult neuromuscular practice.

Methods: We searched the Mayo Clinic database for patients with CMS diagnosed in adulthood in the neuromuscular clinic between 2000 and 2016. Clinical, laboratory, and electrodiagnostic data were reviewed. Read More

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http://Insights.ovid.com/crossref?an=00006114-900000000-9401
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http://dx.doi.org/10.1212/WNL.0000000000006478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251603PMC
November 2018
11 Reads

Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review.

Gynecol Minim Invasive Ther 2018 Jul-Sep;7(3):127-129. Epub 2018 Aug 23.

Department of Obstetrics and Gynecology, Sydney Women's Centre, Saint George Hospital, Kogarah, NSW, Australia.

We herein describe the operative approach of a postmenopausal woman with a history of surgically corrected congenital bladder exstrophy-epispadias who presented with long-standing complete procidentia. The patient was initially treated by laparoscopic sacral colpopexy in conjunction with a modified Elevate mesh kit anterior vaginal repair with and posterior vaginal wall repair in the form of native tissue suture plication repair. Her prolapse recurred 8 months' later due to a detachment of the mesh at the level of the promontorium. Read More

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http://dx.doi.org/10.4103/GMIT.GMIT_14_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135159PMC
August 2018
21 Reads

The inflammation influence on corneal surface after frontalis suspension surgery.

Int J Ophthalmol 2018 18;11(9):1489-1495. Epub 2018 Sep 18.

State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, Guangdong Province, China.

Aim: To study the influence of frontalis muscle flap suspension on ocular surface by analyzing the clinical features and inflammatory cytokines.

Methods: A prospective, observational case series. Thirty-one eyes of 25 patients with severe congenital blepharoptosis who underwent frontalis muscle flap suspension surgery with at least 6mo of follow-up were included in the study. Read More

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http://www.ijo.cn/gjyken/ch/reader/view_abstract.aspx?file_n
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http://dx.doi.org/10.18240/ijo.2018.09.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133894PMC
September 2018
11 Reads

Serotonin contribution to cardiac valve degeneration: new insights for novel therapies?

Pharmacol Res 2019 Feb 9;140:33-42. Epub 2018 Sep 9.

Laboratoire de Pharmacologie et Toxicologie NeuroCardiovasculaire, Faculté de Médecine, Fédération de Médecine Translationnelle, Université et Centre Hospitalier Universitaire de Strasbourg, France. Electronic address:

Heart valve disease (HVD) is a complex entity made by different pathological processes that ultimately lead to the abnormal structure and disorganization of extracellular matrix proteins resulting to dysfunction of the leaflets. At its final evolutionary step, treatments are limited to the percutaneous or surgical valve replacement, whatever the original cause of the degeneration. Understanding early molecular mechanisms that regulate valve interstitial cells remodeling and disease progression is challenging and could pave the way for future drugs aiming to prevent and/or reverse the process. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10436618183058
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http://dx.doi.org/10.1016/j.phrs.2018.09.009DOI Listing
February 2019
12 Reads
4.410 Impact Factor

Mitral Valve Repair for Mitral Regurgitation with Congenital Anomalies of the Papillary Muscles.

J Heart Valve Dis 2017 11;26(6):688-692

Department of Cardiovascular Surgery, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.

Background: True parachute mitral valve and parachute-like asymmetric mitral valve are associated with congenital anomalies of the papillary muscles, which involves an abnormal anatomy of the papillary muscles and chordae.

Methods: Two patients are described with mitral valve regurgitation and papillary muscle anomalies. Mitral valve repair using artificial chordae reconstruction and ring annuloplasty was attempted in both cases. Read More

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November 2017
2 Reads

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Medicine (Baltimore) 2018 Sep;97(36):e12124

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Blepharoptosis (ptosis) is a common but often overlooked sign that may serve as a sign/manifestation of other conditions, ranging from a mild and purely cosmetic presentation to a severe and occasionally progressive disorder. Ptosis may show an acute onset or may manifest as a chronic disorder. Its presentation may vary: unilateral versus bilateral, progressive versus non-progressive, isolated versus complex which occurs in association with other symptoms, and congenital versus acquired (often concomitant with neuromuscular disorders). Read More

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http://dx.doi.org/10.1097/MD.0000000000012124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133583PMC
September 2018
5 Reads

Combating antibiotic resistance: a survey on the antibiotic-prescribing habits of dentists.

Gen Dent 2018 Sep-Oct;66(5):61-68

Adherence to clinical guidelines is recommended to promote appropriate antibiotic use in dentistry and address concerns about increasing antibiotic resistance. Guidelines for antibiotic prophylaxis before invasive dental procedures were updated in 2007 and 2015. In an effort to inform antibiotic stewardship efforts, a study was undertaken to assess the knowledge of antibiotic usage guidelines and antibiotic-prescribing practices among Minnesota dentists. Read More

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February 2019
2 Reads

Bicornuate Bicollis Uterus with Obstruction of the Lower Uterine Segment and Cervical Prolapse Complicating Pregnancy.

Case Rep Obstet Gynecol 2018 13;2018:8910976. Epub 2018 Aug 13.

University of Illinois College of Medicine-Rockford, Department of Obstetrics and Gynecology, 1601 Parkview Ave, Rockford, IL 61101, USA.

Congenital Mullerian duct anomalies are conditions involving the female genital tract. Cases of complex Mullerian duct anomalies with involvement of the renal system are rare. Occasionally, these cases can be associated with obstetrical complications. Read More

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https://www.hindawi.com/journals/criog/2018/8910976/
Publisher Site
http://dx.doi.org/10.1155/2018/8910976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109999PMC
August 2018
11 Reads

Long-term functional and aesthetic evaluation of using a single rhomboid-shaped fascial strip for severe congenital unilateral blepharoptosis.

J Plast Reconstr Aesthet Surg 2018 Nov 2;71(11):1618-1624. Epub 2018 Aug 2.

Department of Plastic & Reconstructive Surgery Osaka City General Hospital, 2-13-22, Miyakojimahondori, Miyakojima-ku, Osaka, Japan.

Purpose: Surgery for congenital blepharoptosis is often performed at approximately 4-5 years of age. A long-term follow-up is important during facial growth. We performed frontal suspension by using a single rhomboid-shaped autogenous fascial strip. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17486815183023
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http://dx.doi.org/10.1016/j.bjps.2018.07.003DOI Listing
November 2018
9 Reads

Bilateral Hypoglossal Nerve Palsy in an Adult Patient With Repaired Tetralogy of Fallot.

Neurologist 2018 Sep;23(5):155-156

Department of Neuroscience and Rehabilitation, Ferrara University Hospital, Italy.

Introduction: Spontaneous cervical artery dissection (sCAD) is a major cause of ischemic stroke in young and middle-aged adults, but the occurrence of multiple sCADs could suggest the presence of an underlying arteriopathy. Bilateral hypoglossal nerve palsy caused by extracranial internal carotid artery dissections have been rarely described. We present the case of a 3-vessel sCAD in a patient with repaired tetralogy of Fallot (ToF). Read More

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http://dx.doi.org/10.1097/NRL.0000000000000190DOI Listing
September 2018
15 Reads

Saethre-Chotzen syndrome: Case report and literature review.

Dent Med Probl 2018 Apr-Jun;55(2):217-225

Department of Maxillofacial Orthopaedics and Orthodontics, Division of Facial Abnormalities, Wroclaw Medical University, Poland.

Saethre-Chotzen syndrome (SCS) belongs to a group of rare congenital disorders connected with craniosynostosis and syndactyly. The purpose of this paper is to provide a review of the literature, to collect all reported symptoms and to describe the case of an 11-year-old female with SCS. The electronic databases PubMed and Scopus were searched to gain all symptoms of SCS described in the literature. Read More

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http://dx.doi.org/10.17219/dmp/91050DOI Listing
August 2018
1 Read

Goldenhar syndrome with blepharophimosis and limb deformities: a case report.

BMC Ophthalmol 2018 Aug 22;18(1):206. Epub 2018 Aug 22.

Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, No.639 ZhizaojuRoad, Shanghai, 200025, People's Republic of China.

Background: Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been reported. Read More

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https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12
Publisher Site
http://dx.doi.org/10.1186/s12886-018-0872-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106733PMC
August 2018
15 Reads
1.075 Impact Factor

Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report.

J Med Case Rep 2018 Aug 10;12(1):217. Epub 2018 Aug 10.

University Paediatric Unit, Colombo North Teaching Hospital, Ragama, Sri Lanka.

Background: Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case of a 3-year-old, previously undiagnosed, child with Smith-Lemli-Opitz syndrome presenting with acute adrenal crisis, which is an extremely rare and atypical presentation of this disease.

Case Presentation: A 3-year-old Sri Lankan Sinhalese boy without evidence of infection presented with circulatory collapse. Read More

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http://dx.doi.org/10.1186/s13256-018-1738-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085650PMC
August 2018
2 Reads

Clinical and Demographic Characteristics of Blepharoptosis in Korea: A 24-year Experience including 2,328 Patients.

Korean J Ophthalmol 2018 08;32(4):249-256

Department of Ophthalmology, Kim's Eye Hospital, Myung-Gok Eye Research Institute, Seoul, Korea.

Purpose: To describe the demographics, relative incidence of subtypes, and clinical characteristics of blepharoptosis in Korean patients.

Methods: This is a retrospective, observational case series consisting of 2,328 patients who underwent ptosis surgery from 1991 to 2014 at a tertiary referral hospital in Korea. The patients were classified according to the type of ptosis and the evaluation of clinical characteristics including levator muscle function (LF) and degree of ptosis. Read More

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http://dx.doi.org/10.3341/kjo.2017.0118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085181PMC
August 2018
12 Reads

Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene.

J Oral Maxillofac Surg 2018 Dec 7;76(12):2582.e1-2582.e9. Epub 2018 Jul 7.

Professor, Department Head, and Vice Dean, Department of Oromaxillofacial-Head and Neck Surgery and Department of Oral and Maxillofacial Surgery, School of Stomatology, China Medical University, Shenyang, China. Electronic address:

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, is an extremely rare autosomal recessive disorder. This study investigated the oral and craniofacial manifestations of a 7-year-old Chinese boy affected by CIPA and identified 2 novel mutations in the NTRK1 gene, and a new feature of the disorder was identified. The patient had typical features, including insensitivity to pain, anhidrosis, and mental retardation; recurrent fractures and osteoporosis also were noted. Read More

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http://dx.doi.org/10.1016/j.joms.2018.06.170DOI Listing
December 2018

Isolated left upper eyelid ptosis with pansinusitis and contralateral otitis media in a 9-year-old boy.

Am J Ophthalmol Case Rep 2018 Sep 21;11:6-9. Epub 2018 Apr 21.

Department of Ophthalmology, University of Virginia, 1300 Jefferson Park Ave, Charlottesville, VA, 22908, USA.

Purpose: Upper eyelid ptosis has different etiologies in children and adults. In children, the common causes include orbital cellulitis, congenital ptosis, Cranial Nerve (CN) III palsy, and Horner's syndrome. The purpose of this report is to discuss an unusual presentation of ptosis. Read More

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http://dx.doi.org/10.1016/j.ajoc.2018.04.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058058PMC
September 2018
7 Reads

Congenital Uterovaginal Prolapse in a Newborn.

Case Rep Obstet Gynecol 2018 27;2018:1425953. Epub 2018 Jun 27.

Department of Obstetrics and Gynecology, College of Medicine and Health Sciences, Hawassa University, Hawassa, Ethiopia.

Background: Uterovaginal prolapse is a rare condition in newborns which is usually associated with spinal cord defects. It is usually diagnosed at birth. Different treatment options have been proposed for genital prolapse in newborns. Read More

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http://dx.doi.org/10.1155/2018/1425953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040269PMC

Intraoperative lagophthalmos formula for levator resection in congenital ptosis.

Br J Ophthalmol 2018 Jul 26. Epub 2018 Jul 26.

Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea

Aim: To calculate a regression formula for intraoperative lagophthalmos to determine the amount of correction in levator resection for mild to moderate congenital ptosis.

Methods: This retrospective study included 38 eyelids from 28 consecutive children with congenital ptosis with levator function of 4 mm or better who showed satisfactory surgical outcomes defined as postoperative margin reflex distance-1 (MRD1) ≥3 mm in each eye and difference in MRD1 ≤1 mm between eyes at 6 months after levator resection. We investigated whether the degree of intraoperative lagophthalmos measured by calliper correlated with the preoperative values of MRD1, levator function and age. Read More

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http://dx.doi.org/10.1136/bjophthalmol-2018-311945DOI Listing

Ocular ptosis: differential diagnosis and treatment.

Curr Opin Neurol 2018 Oct;31(5):618-627

Neuromuscular Disorders Unit, Neurology Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu I Sant Pau, Barcelona.

Purpose Of Review: The current article provides a brief summary of the clinical approach to congenital and acquired ptosis. An increasing number of publications analyze causes of ptosis or describe diagnostic tests or advances in ptosis genetics. The aim of our work is to summarize these findings and provide an updated algorithm for the diagnosis and treatment of patients with ptosis. Read More

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http://dx.doi.org/10.1097/WCO.0000000000000600DOI Listing
October 2018
2 Reads

Horizontal Forehead Lines: A Reflection of Eyelid Ptosis or Blepharodermachalasia.

Aesthetic Plast Surg 2018 Dec 20;42(6):1551-1555. Epub 2018 Jul 20.

Department of Plastic Surgery, University Hospitals Cleveland Medical Center, 11100 Euclid Ave, Cleveland, OH, 44106, USA.

Background: In his facial aesthetics practice, the senior author (B.G.) observed that many patients presenting with horizontal forehead lines also demonstrated upper eyelid ptosis or enough blepharodermachalasia to require compensation. Read More

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http://link.springer.com/10.1007/s00266-018-1198-7
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http://dx.doi.org/10.1007/s00266-018-1198-7DOI Listing
December 2018
8 Reads

Strangulated Morgagni hernia in an adult: Synchronous prolapse of the liver and transverse colon.

Ulus Travma Acil Cerrahi Derg 2018 Jul;24(4):376-378

Department of Surgery, Wonkwang University Sanbon Hospital, Wonkwang University School of Medicine, Gunpo-Korea.

Morgagni hernia (MH) is a very rare congenital defect found in the anterior aspect of the diaphragm between the costal and sternal portions of the muscle. The most common defect is congenital diaphragmatic hernia, 90% of which are Bochdalek type. MHs account for approximately 3% of all diaphragmatic hernias. Read More

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http://dx.doi.org/10.5505/tjtes.2017.99045DOI Listing
July 2018
3 Reads
0.380 Impact Factor

[Centronuclear myopathy: clinical characteristics and MRI image features of oral and maxillofacial region].

Zhonghua Kou Qiang Yi Xue Za Zhi 2017 Jul;52(7):415-420

Department of Radiology, The Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.

To provide biomechnical basis for orthodontics of centronuclear myopathy (CNM) patients, we studied the oral and maxillofacial clinical features and MRI image manifestations to explore application of MRI to objective evaluation the affected facial muscles. The study consisted of 8 patients who were diagnosed as CNM (CNM group) and 20 healthy volunteers (control group). Their medical information were gathered and then we examined the ptosis situation and the facial index calculation of them. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1002-0098.2017.07.005DOI Listing
July 2017
1 Read

Focal traumatic rupture of a dermoid cyst in a pediatric patient: case report and literature review.

Childs Nerv Syst 2018 Dec 30;34(12):2485-2490. Epub 2018 Jun 30.

Department of Neurological Surgery, St. Louis Children's Hospital, Washington University in St. Louis School of Medicine, 1 Children's Place, St. Louis, MO, 63110, USA.

Background: Dermoid cysts are rare congenital teratomas that can occasionally rupture and cause chemical meningitis, neurological deficit, or hydrocephalus. Rarely, dermoid cysts in the pediatric population can rupture spontaneously and even more rarely rupture due to trauma. To date, there are only five documented cases of traumatic rupture of a dermoid cyst. Read More

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http://dx.doi.org/10.1007/s00381-018-3879-6DOI Listing
December 2018
4 Reads

Revision Surgery for Undercorrected Blepharoptosis After Frontalis Sling Operation Using Autogenous Fascia Lata.

Ophthalmic Plast Reconstr Surg 2018 Sep/Oct;34(5):487-490

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Purpose: Undercorrected blepharoptosis can be encountered after frontalis sling operation. Revision surgery for undercorrection has commonly involved introducing a new sling material. We describe and evaluate a simple surgical technique to correct undercorrection by adjusting preexisting fascia. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001152DOI Listing
September 2018
5 Reads

Congenital Arteriovenous Malformation of the Scalp Involving the Orbit.

J Neurol Surg A Cent Eur Neurosurg 2018 Nov 15;79(6):541-549. Epub 2018 Jun 15.

Department of Neurosurgery, Azienda Ospedaliero-Universitaria di Modena, Via Giardini 1355, 41121 Modena, Italy.

Background:  Arteriovenous malformations (AVMs) of the scalp are rare and infrequently encountered by the neurosurgeon.

Case Description:  We report a unique case of a 42-year-old patient who presented with a progressive worsening of visual acuity in the right eye (lower quadrantanopia) and palpebral ptosis. Physical examination revealed a right exophthalmos and a right frontoparietal scalp soft swelling when the patient was in the supine position. Read More

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http://dx.doi.org/10.1055/s-0038-1641178DOI Listing
November 2018
1 Read

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Eur J Hum Genet 2018 09 14;26(9):1272-1281. Epub 2018 Jun 14.

Department of Medical Genetics, University of Calgary, Cumming School of Medicine, Calgary, AB, Canada.

Au-Kline syndrome (AKS, OMIM 616580) is a multiple malformation syndrome, first reported in 2015, associated with intellectual disability. AKS has been associated with de novo loss-of-function variants in HNRNPK (heterogeneous ribonucleoprotein K), and to date, only four of these patients have been described in the literature. Recently, an additional patient with a missense variant in HNRNPK was also reported. Read More

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http://www.nature.com/articles/s41431-018-0187-2
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http://dx.doi.org/10.1038/s41431-018-0187-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117294PMC
September 2018
42 Reads

Botulinum toxin chemodenervation for childhood strabismus in England: National and local patterns of practice.

PLoS One 2018 14;13(6):e0199074. Epub 2018 Jun 14.

Department of Strabismus and Paediatric Ophthalmology, Moorfields Eye Hospital and University College London Institute of Ophthalmology, National Institute of Health Research, Biomedical Research Centre, London, United Kingdom.

Background: Botulinum toxin injection chemodenervation is a well-established intervention for adult strabismus, and has also been recognised as an effective alternative to routine incisional surgery for paediatric disease. We aimed to investigate the temporal patterns of practice, indications and outcomes of chemodenervation for paediatric strabismus at national and tertiary centre level.

Methods: Retrospective study using routinely collected patient data: Hospital Episode Statistics (HES) data were used to identify children undergoing non-incisional strabismus procedures in England from 2007 to 2016. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0199074PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001959PMC
December 2018
2 Reads

Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum.

Int J Cardiol 2018 Nov 30;270:214-220. Epub 2018 May 30.

Department of Cardiovascular Medicine (Division of Heart Rhythm Services), Mayo Clinic, Rochester, MN, United States; Department of Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), Mayo Clinic, Rochester, MN, United States; Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, United States. Electronic address:

Background: Sudden cardiac arrest (SCA) may be the sentinel expression of a sudden cardiac death-predisposing genetic heart disease (GHD). Although shown to underlie many unexplained SCAs in the young, the contribution of GHDs to sentinel SCA has never been quantified across the age spectrum. Thus, we sought to determine the contribution of GHDs in single-center referral cohort of non-ischemic SCA survivors. Read More

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http://dx.doi.org/10.1016/j.ijcard.2018.05.100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6364980PMC
November 2018
1 Read