2,733 results match your criteria Ptosis Congenital


A case of de novo 18p deletion syndrome with panhypopituitarism.

Ann Pediatr Endocrinol Metab 2019 Mar 31;24(1):60-63. Epub 2019 Mar 31.

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

Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from minor congenital malformations to holoprosencephaly. We present a case of a 2-year-old girl with ptosis, a round face, broad neck with low posterior hairline, short stature, and panhypopituitarism. Read More

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http://dx.doi.org/10.6065/apem.2019.24.1.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449612PMC
March 2019
4 Reads

Perinatal Outcomes of Small for Gestational Age Neonates Born With an Isolated Single Umbilical Artery.

Front Pediatr 2019 19;7:79. Epub 2019 Mar 19.

Department of Obstetrics and Gynecology, Soroka University Medical Center, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

To investigate pregnancy outcomes of small for gestational age (SGA) neonates born with isolated single umbilical artery (iSUA) compared to SGA neonates without iSUA. This was a population-based retrospective cohort analysis. The study group was defined as a singleton SGA neonate born with iSUA, while an SGA neonate without iSUA comprised the comparison group. Read More

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http://dx.doi.org/10.3389/fped.2019.00079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433819PMC
March 2019
2 Reads

The Electrophysiology of Presynaptic Congenital Myasthenic Syndromes With and Without Facilitation: From Electrodiagnostic Findings to Molecular Mechanisms.

Front Neurol 2019 19;10:257. Epub 2019 Mar 19.

Department of Neurology, Mayo Clinic, Rochester, MN, United States.

Congenital myasthenic syndromes (CMS) are a group of inherited disorders of neuromuscular transmission most commonly presenting with early onset fatigable weakness, ptosis, and ophthalmoparesis. CMS are classified according to the localization of the causative molecular defect. CMS with presynaptic dysfunction can be caused by mutations in several different genes, including those involved in acetylcholine synthesis, its packaging into synaptic vesicles, vesicle docking, and release from the presynaptic nerve terminal and neuromuscular junction development and maintenance. Read More

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http://dx.doi.org/10.3389/fneur.2019.00257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433874PMC

Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.

Am J Med Genet A 2019 Apr 1. Epub 2019 Apr 1.

Paediatric Neurology Department, Children's Hospital, London Health Science Centre, London, Ontario, Canada.

The group of distal arthrogryposis (DA) disorders is characterized by congenital contractures of the distal joints. In most instances, these are genetic disorders are inherited in an autosomal dominant fashion; however, there is wide genetic and phenotypic spectrum. Distal arthrogryposis type 5 (DA5) is clinically characterized by short stature, deep-set eyes, ptosis, ophthalmoplegia, triangular facies, restrictive pulmonary function, and "firm" muscles. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61143
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http://dx.doi.org/10.1002/ajmg.a.61143DOI Listing
April 2019
3 Reads

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Neural Plast 2019 27;2019:7143458. Epub 2019 Feb 27.

Department of Otolaryngology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha, Hunan, China.

Background: Waardenburg syndrome (WS) is one of the most common forms of syndromic deafness with heterogeneity of loci and alleles and variable expressivity of clinical features.

Methods: The technology of single-nucleotide variants (SNV) and copy number variation (CNV) detection was developed to investigate the genotype spectrum of WS in a Chinese population.

Results: Ninety WS patients and 24 additional family members were recruited for the study. Read More

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https://www.hindawi.com/journals/np/2019/7143458/
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http://dx.doi.org/10.1155/2019/7143458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6415303PMC
February 2019
2 Reads

Supramaximal Levator Resection for Poor Function Congenital Ptosis.

Ophthalmic Plast Reconstr Surg 2019 Mar 26. Epub 2019 Mar 26.

Oculoplastica Bernardini, Genova, Milano, Roma e Torino, Italy.

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http://dx.doi.org/10.1097/IOP.0000000000001341DOI Listing

Compound Heterozygous Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea.

Front Pharmacol 2019 12;10:259. Epub 2019 Mar 12.

Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Congenital myasthenic syndromes (CMSs) are a group of inherited disorders caused by genetic defects in neuromuscular junctions. Mutations in , encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a rare autosomal recessive disease characterized by respiratory insufficiency with cyanosis and apnea after infections, fever, vomiting, or excitement. To date, no studies have reported deletions comprised of multiple exons. Read More

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http://dx.doi.org/10.3389/fphar.2019.00259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422987PMC
March 2019
1 Read

Physiological correction of mild to moderate congenital blepharoptosis: A retrospective cohort study involving 97 Eastern Asian patients.

J Plast Reconstr Aesthet Surg 2019 Mar 2. Epub 2019 Mar 2.

Department of Plastic & Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, 639 Zhi Zao Ju Road, Shanghai 200011, People's Republic of China. Electronic address:

Background: Conventional blepharoptosis repair methods distort the normal anatomy of levator aponeurosis and often cause a visible depressed scar in the upper eyelid.

Methods: The levator aponeurosis was dissected as a flap from the pretarsal tissue in mono-eyelid Asian patients who had mild to moderate congenital blepharoptosis. The flap base was advanced and repositioned on the tarsus. Read More

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http://dx.doi.org/10.1016/j.bjps.2019.02.014DOI Listing
March 2019
2 Reads

The Epidemiology and Clinical Features of Blepharoptosis in Taiwanese Population.

Aesthetic Plast Surg 2019 Mar 14. Epub 2019 Mar 14.

Division of Plastic Surgery, Department of Surgery, Kaohsiung Medical University Hospital, No.100, Tzyou 1st Rd, Kaohsiung, 807, Taiwan.

Background: Blepharoptosis describes a condition of low-lying upper eyelid that may affect individuals of all ages under various etiologies. It may be of congenital or acquired form by the timing of onset or be divided into myogenic, neurogenic, aponeurotic, or mechanical types according to the mechanism. Our goal was to report the characteristics of age-specific blepharoptosis and to analyze the association between levator function (LF) and ptosis severity of each ptosis subtype. Read More

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http://link.springer.com/10.1007/s00266-019-01344-2
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http://dx.doi.org/10.1007/s00266-019-01344-2DOI Listing
March 2019
7 Reads

Effect of Eyelid Crease Formation on Aesthetic Outcomes post Frontalis Suspension for Unilateral Ptosis.

Plast Reconstr Surg Glob Open 2019 Jan 9;7(1):e2039. Epub 2019 Jan 9.

The Esthetic Clinics, Shraddha Bldg No 3, Mumbai, India.

Background: The eyelid crease plays a very important role in determining eyelid symmetry. This study was performed to compare the cosmetic results post silicone rod frontalis suspension surgery, performed with and without eyelid crease formation, for correction of unilateral, congenital ptosis.

Methods: Prospective, interventional study. Read More

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http://dx.doi.org/10.1097/GOX.0000000000002039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382224PMC
January 2019
1 Read

The Sutureless Mullerectomy.

Ophthalmic Plast Reconstr Surg 2019 Mar 4. Epub 2019 Mar 4.

Division of Ophthalmic Plastic and Reconstructive Surgery, Department of Ophthalmology and Visual Sciences, Yitzhak Shamir Medical Center, Sackler School of Medicine, Tel Aviv University, Tzrifin, Israel.

Purpose: Muller's muscle-conjunctival resection (MMCR) is a well-known approach for ptosis repair. In its standard fashion, it involves resection of Muller's muscle and conjunctiva, followed by suturing of the conjunctiva and Muller's muscle to the tarsus with absorbable or nonabsorbable sutures. The authors herein present their experience in performing MMCR without sutures. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001331DOI Listing
March 2019
2 Reads

Orbital Septum Fibrosis in Congenital Ptosis Correlates With Eyelid Function: A Clinicopathologic Study.

Ophthalmic Plast Reconstr Surg 2019 Mar 5. Epub 2019 Mar 5.

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, U.S.A.

Purpose: Congenital ptosis can threaten visual function and is usually treated with surgical correction. This study tests the hypothesis that congenital ptosis involves not only the levator muscle but also the orbital septum, which may tether the eyelid in the primary position.

Methods: A retrospective chart review was performed on 30 patients (41 eyelids) with congenital ptosis who underwent surgical correction that included partial septum excision. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001330DOI Listing
March 2019
6 Reads

An evolutionary and developmental biology approach to gastroschisis.

Birth Defects Res 2019 Apr 28;111(6):294-311. Epub 2019 Feb 28.

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

Recent advances have now made it possible to speak of gastroschisis narrowly in morphogenetic terms invoking the Rittler-Beaudoin (R-B) model. This proceeds from the appreciation of gastroschisis as a congenital intestinal herniation (without cover or liver) within the primordial umbilical ring, mostly to the right side of a normally formed umbilical cord. Presently, it is unresolved whether this visceral prolapse represents failure of ring closure before return of the physiological hernia into the abdomen or rupture of the delicate amniotic/peritoneal membrane at the ring's edge to the right of the cord. Read More

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http://dx.doi.org/10.1002/bdr2.1481DOI Listing
April 2019
1 Read

Periocular Asymmetry in Infants with Deformational Posterior Plagiocephaly.

J Binocul Vis Ocul Motil 2019 Jan-Mar;69(1):18-23. Epub 2019 Feb 27.

a The Department of Ophthalmology & Visual Neurosciences , University of Minnesota , Minneapolis , Minnesota.

Purpose: To analyze the clinical significance of the periorbital features associated with the facial asymmetry that is common in deformational posterior plagiocephaly (DPP).

Patients And Methods: We identified 32 patients with DPP, photographed their faces and tops of their head, and performed a complete eye examination. Four examiners analyzed the patient's periorbital features on the photographs. Read More

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http://dx.doi.org/10.1080/2576117X.2019.1565275DOI Listing
February 2019
1 Read

Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia.

Ophthalmic Plast Reconstr Surg 2019 Jan 2. Epub 2019 Jan 2.

Section of Orbital and Ophthalmic Plastic Surgery (S.A.M.C., G.J.H.).

Purpose: Timing of surgery in children with congenital ptosis is a critical component of care, and anisometropia is frequently cited as an indication for early intervention. The purpose of this study is to evaluate the change in refractive error following surgery for congenital ptosis to better inform decisions regarding the timing of surgery.

Methods: A retrospective review of clinical records was performed on patients who underwent surgical correction of congenital ptosis in an academic oculoplastic surgery practice from 2002 to 2017. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001284DOI Listing
January 2019

Ophthalmologic findings in the Cornelia de Lange syndrome.

Ophthalmic Genet 2019 Feb 15;40(1):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
16 Reads

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J Neurol 2019 May 14;266(5):1107-1112. 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
May 2019
2 Reads

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
April 2019
6 Reads

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
2 Reads

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 8. Epub 2019 Feb 8.

Department of Musculoskeletal Oncology, Sun Yat-sen University Cancer Center, Collaborative Innovation Center for Cancer Medicine, Guangzhou, Guangdong, China. Electronic address:

Objective: We sought 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
11 Reads

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

Int J Pediatr Otorhinolaryngol 2019 Apr 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
April 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
2 Reads

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
3 Reads

Incidence and Ocular Features of Pediatric Myasthenias.

Am J Ophthalmol 2019 Apr 14;200:242-249. Epub 2019 Jan 14.

Department of Ophthalmology, Mayo Clinic and Mayo Foundation, Rochester, Minnesota, USA. 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. 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
April 2019
10 Reads

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

Pediatr Neurosurg 2019 21;54(1):51-56. Epub 2018 Dec 21.

Division of Pediatric Neurosurgery, Gazi University Faculty of Medicine, Ankara, Turkey,

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
1 Read

Marcus Gunn (jaw-winking) phenomenon in pediatric otorhinolaryngology practice.

Int J Pediatr Otorhinolaryngol 2019 Feb 30;117:153-156. Epub 2018 Nov 30.

Department of Otolaryngology, Centre of Postgraduate Medical Education, 8 Kondratowicza St., 03-242, Warsaw, Poland.

Marcus Gunn phenomenon (MGP) is a rare form of congenital facial synkinesis known as jaw-winking or pterygoid-levator synkinesis. The MGP is the raising of the affected eyelid is synchronous and proportionate to the opening of the mouth. The etiology is unclear. Read More

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http://dx.doi.org/10.1016/j.ijporl.2018.11.035DOI Listing
February 2019
12 Reads

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
10 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
4 Reads

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
2 Reads

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
3 Reads

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

Pediatr Cardiol 2019 Feb 11;40(2):393-403. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399167PMC
February 2019
17 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
13 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
22 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
4 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
13 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
20 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
28 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
17 Reads

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

Pharmacol Res 2019 02 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
Publisher Site
http://dx.doi.org/10.1016/j.phrs.2018.09.009DOI Listing
February 2019
17 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
4 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
6 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
6 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
12 Reads