Search our Database of Scientific Publications and Authors

I’m looking for a

    2645 results match your criteria Ptosis Congenital

    1 OF 53

    Female Caudal Duplication Syndrome: A Surgical Case Report with 10-Year Follow-up and Review of the Literature.
    Female Pelvic Med Reconstr Surg 2018 Apr 25. Epub 2018 Apr 25.
    Caudal duplication syndrome is an exceedingly rare condition that manifests as duplicative anomalies of the gastrointestinal and genitourinary systems. We present a case of an adult patient born with multiple congenital anomalies including duplicated reproductive and urinary systems. She presented to our center for initial evaluation 11 years ago largely experiencing right-sided pelvic organ prolapse and bilateral urinary tract voiding dysfunction. Read More

    Surgical treatment of unilateral severe simple congenital ptosis.
    Taiwan J Ophthalmol 2018 Jan-Mar;8(1):3-8
    Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
    Unilateral congenital ptosis with poor levator function of ≤4 mm continues to be a difficult challenge for the oculoplastic surgeon. Surgical correction can be accomplished with unilateral frontalis suspension, maximal levator resection, or bilateral frontalis suspension with or without levator muscle excision of the normal eyelid. Bilateral frontalis suspension was proposed by Beard and Callahan to overcome the challenge of postoperative asymmetry, allowing symmetrical lagophthalmos on downgaze, postoperatively. Read More

    Long-Term Effects of Frontalis Fascial Slings on the Elastic Properties of the Upper Eyelid.
    Curr Eye Res 2018 Apr 20. Epub 2018 Apr 20.
    a Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, Ribeirão Preto Medical School , University of São Paulo , Brazil.
    Purpose: To measure the long-term effects of frontalis slings with fascial tissues on the downward eyelid saccadic movements Methods: Downward lid saccades for 10, 20, 30 40 and 50 degrees of downgaze were measured in a sample of 19 patients with congenital ptosis who underwent frontalis slings with fascia lata (autogeneous and banked) and temporalis fascia. Mean postoperative time was 10.7 years ± 3. Read More

    Frontalis Muscle Flap Versus Maximal Anterior Levator Resection as First Option for Patients With Severe Congenital Ptosis.
    Ophthal Plast Reconstr Surg 2018 Apr 12. Epub 2018 Apr 12.
    Pediatric Ophthalmology Department, Instituto de Microcirugia Ocular, Barcelona, Spain.
    Purpose: To compare 2 surgical techniques (frontalis flap versus maximal anterior levator resection) as first surgical options for the treatment of congenital ptosis with poor levator function in patients younger than 2 years of age with a follow up of 10 years.

    Methods: A retrospective study of 58 patients (71 eyelids) with severe ptosis and poor levator function who underwent frontalis muscle flap (FMF = 47) or maximal anterior levator resection (ALR = 24) for correction of their ptosis. Eyelid measurements were taken at baseline, 1, 5, and 10 years after surgery. Read More

    Efficacy of autogenous fascia lata and silicone aurosling in correction of congenital blepharoptosis by frontalis suspension.
    Indian J Dent Res 2018 Mar-Apr;29(2):166-170
    Director and Consultant, Oral and Maxillofacial Surgeon, Balaji Dental and Craniofacial Hospital, Chennai, Tamil Nadu, India.
    Purpose: The purpose of this study is to assess the outcomes of frontalis sling using fascia lata and silicone aurosling for congenital unilateral ptosis patients with poor levator function.

    Material And Methods: Retrospective study of archival cases from 22 patients from author's center. All the patients with unilateral ptosis with poor levator function were included excluding those having poor Bell's phenomenon and associated pathology like jaw winking, 3 nerve misdirection, squint, impaired corneal sensitivity, and neoplastic lesions. Read More

    Spontaneous chordae tendineae rupture during peripartum.
    Am J Emerg Med 2018 Mar 19. Epub 2018 Mar 19.
    Department of Emergency Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan. Electronic address:
    Acute cardiopulmonary distress in pregnancy always carries exceptionally arduous challenge for physicians. Here we report a patient who sustained spontaneous chordae tendineae rupture complicated with severe mitral regurgitation and acute pulmonary edema during peripartum period. Probable causes of chordae tendineae rupture include mitral valve prolapse, infectious endocarditis, congenital heart disease, rheumatic heart disease, ischemic heart disease, connective tissue diseases, previous mitral valve surgery or pregnancy itself. Read More

    Georgian Med News 2018 Feb(Issue):73-77
    Clinica Goldman, Porto Alegre, Rio Grande do Sul, Brazil; Department of Dermatology and Allergology, Municipal Hospital Dresden, Academic Teaching Hospital of the Technical University of Dresden, Germany.
    Unilateral frontalis muscle palsy is a debilitating disease with a heterogeneous etiology. Congenital or acquired unilateral paralysis of the frontalis muscle causes ipsilateral brow ptosis and contralateral hypermobility of the non-paralytic frontalis muscle, resulting in a bizarre asymmetry and emotional embarrassment. We present five patients with unilateral frontal muscle paralysis, two males and three females, aged between 32 and 68, treated with botulinum toxin A injection to the contralateral (non-affected) side. Read More

    Tarsal buckle with conjunctival prolapse following levator plication for unilateral congenital ptosis.
    BMJ Case Rep 2018 Mar 22;2018. Epub 2018 Mar 22.
    Department of Ophthalmology, Dr Rajendra Prasad Centre for Ophthalmic Sciences, AIIMS, Delhi, India.
    An 8-year-old child underwent uneventful levator plication surgery for unilateral congenital ptosis. Postoperative course for initial few days was uneventful but on day 7, the patient was brought with conjunctival prolapse from the undersurface of upper eyelid due to tarsal kinking and eversion. Early medical management was initiated with frequent surface lubrication to avoid conjunctiva dryness. Read More

    A late presentation of congenital cardiac anomaly: Accessory chordae from the left atrium causing severe mitral regurgitation.
    Echocardiography 2018 Mar 22. Epub 2018 Mar 22.
    Cardiology, Trento Hospital, Trento, Italy.
    Mitral regurgitation secondary to accessory mitral valve (MV) chordae of the left atrium is an extremely rare congenital disease. A 85-year-old female (NYHA I-II) was hospitalized for investigations. An echocardiogram showed calcification of the MV with mild stenosis and moderate regurgitation. Read More

    Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.
    Neuromuscul Disord 2018 Feb 8. Epub 2018 Feb 8.
    Department of Pathology, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
    We report the case of a 58-year-old woman with a progressive and seemingly sporadic myopathy who, later through whole exome sequencing, was diagnosed as a manifesting carrier of a myotubularin 1 gene mutation (c.342_342 + 4delAGTAA). As the case was a diagnostic challenge for 7 years, we thought it would be helpful to report the patient and review the other 25 cases thus far described. Read More

    Deregulated microRNA and mRNA expression profiles in the peripheral blood of patients with Marfan syndrome.
    J Transl Med 2018 Mar 12;16(1):60. Epub 2018 Mar 12.
    Institute of Human Genetics, Saarland University, 66421, Homburg/Saar, Germany.
    Background: MicroRNAs (miRNAs) are small RNAs regulating gene expression post-transcriptionally. While acquired changes of miRNA and mRNA profiles in cancer have been extensively studied, little is known about expression changes of circulating miRNAs and messenger RNAs (mRNA) in monogenic constitutional anomalies affecting several organ systems, like Marfan syndrome (MFS). We performed integrated miRNA and mRNA expression profiling in blood samples of Marfan patients in order to investigate deregulated miRNA and mRNA networks in these patients which could serve as potential diagnostic and prognostic tools for MFS therapy. Read More

    [Clinical and genetic characteristics of congenital myasthenia syndrome with episodic apnea caused by CHAT gene mutation: a report of 2 cases].
    Zhonghua Er Ke Za Zhi 2018 Mar;56(3):216-220
    Department of Neurology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
    To investigate the clinical and genetic features of congenital myasthenia syndrome with episodic apnea (CMS-EA) caused by gene mutation of choline acetyltransferase (CHAT) The clinical data of 2 patients with congenital myasthenia syndrome were collected, and both were diagnosed from 2013 to 2015 in Beijing Children's Hospital, Capital Medical University. The clinical features and gene mutation characteristics were analyzed, and the patients were followed-up for therapeutic efficacy. The two patients (case 1 and case 2) had the onset soon after birth and at 3 months after birth respectively. Read More

    Endoscope-assisted harvest of autogenous fascia lata in frontalis suspension surgery: A minimally invasive approach revisited.
    Indian J Ophthalmol 2018 Mar;66(3):440-444
    Department of Ophthalmic Plastic Surgery Services, L. V. Prasad Eye Institute, Bhubaneswar, Odisha, India.
    Purpose: To report endoscope-assisted fascia lata harvest (EAFH) as a minimally-invasive technique for correction of severe blepharoptosis.

    Methods: This was a retrospective case series between January 2013 and April 2017. Medical records of all consecutive patients who underwent frontalis suspension by EAFH in the study period were reviewed and outcome was analyzed. Read More

    Ultrasound biomicroscopy image patterns in normal upper eyelid and congenital ptosis in the Indian population.
    Indian J Ophthalmol 2018 Mar;66(3):383-388
    Dr. R. P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
    Purpose: To study the features of upper eyelid in healthy individual and different types of congenital ptosis in the Indian population using ultrasound biomicroscopy (UBM).

    Methods: This was a prospective observational study at a tertiary care center. Eyelid structure of healthy individuals with no eyelid abnormalities (n = 19); simple congenital ptosis (n = 33) cases; Marcus Gunn jaw-winking ptosis (MGJWP, n = 7) cases, and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, n = 20) cases were studied on a vertical UBM scan using 50-MHz probe. Read More

    Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
    Am J Hum Genet 2018 Mar 22;102(3):487-493. Epub 2018 Feb 22.
    Human Developmental Genetics, Institut Pasteur, Paris 75724, France. Electronic address:
    Emerging evidence from murine studies suggests that mammalian sex determination is the outcome of an imbalance between mutually antagonistic male and female regulatory networks that canalize development down one pathway while actively repressing the other. However, in contrast to testis formation, the gene regulatory pathways governing mammalian ovary development have remained elusive. We performed exome or Sanger sequencing on 79 46,XX SRY-negative individuals with either unexplained virilization or with testicular/ovotesticular disorders/differences of sex development (TDSD/OTDSD). Read More

    Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.
    Eur J Paediatr Neurol 2018 May 3;22(3):552-557. Epub 2018 Feb 3.
    Medical Genetics Unit, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.
    A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype. Read More

    Novel Homozygous Missense Mutation in Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy.
    Mol Syndromol 2017 Dec 15;9(1):25-29. Epub 2017 Nov 15.
    Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
    Ryanodine receptor 1 () is an intracellular calcium receptor primarily expressed in skeletal muscle with a role in excitation contraction. Both dominant and recessive mutations in the gene cause a range of -related myopathies and/or susceptibility to malignant hyperthermia (MH). Recently, an atypical manifestation of ptosis, variably presenting with ophthalmoplegia, facial paralysis, and scoliosis but without significant muscle weakness, has been reported in 9 cases from 4 families with bialleic variants in . Read More

    Dexmedetomidine-based monitored conscious sedation combined local anesthesia for levator resection in a 10-year-old child with Marcus Gunn jaw-winking synkinesis: A case report.
    Medicine (Baltimore) 2017 Dec;96(51):e9369
    Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China.
    Rationale: Levator resection has become a routine procedure for patients with severe Marcus Gunn jaw-winking synkinesis (MGJWS). To optimize the surgical outcome, adult patients need to be kept awake, or easily aroused and responsive to verbal commands during the operation. However, levator resection is commonly performed under general anesthesia in pediatric patients. Read More

    Primary small intestinal volvulus after laparoscopic rectopexy for rectal prolapse.
    Asian J Endosc Surg 2018 Feb 1. Epub 2018 Feb 1.
    Department of Gastrointestinal and Hepato-Biliary-Pancreatic Surgery, Nippon Medical School, Tokyo, Japan.
    Primary small intestinal volvulus is defined as torsion in the absence of congenital malrotation, band, or postoperative adhesions. Its occurrence as an early postoperative complication is rare. A 40-year-old woman presented with rectal prolapse, and laparoscopic rectopexy was uneventfully performed. Read More

    A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.
    J Neurol 2018 Mar 30;265(3):708-713. Epub 2018 Jan 30.
    Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Av. Enéas de Carvalho Aguiar, 255, 5o andar, sala 5084, Cerqueira César, São Paulo, 05403-900, Brazil.
    The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Read More

    Identification of a novel frameshift mutation in gene and the clinical management in an Asian Indian aniridia family.
    Indian J Ophthalmol 2018 Feb;66(2):229-232
    Dualhelix Genetic Diagnostics, Chennai, Tamil Nadu, India.
    Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management.

    Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. Read More

    Improving Outcomes of Posterior Approach Levatorpexy for Congenital Ptosis With Reduced Levator Function.
    Ophthal Plast Reconstr Surg 2018 Jan 23. Epub 2018 Jan 23.
    Corneoplastic Unit, Queen Victoria Hospital, East Grinstead, United Kingdom.
    Purpose: The authors present a new series of our experience using posterior approach levatorpexy for congenital ptosis with poorer levator function (LF) in comparison with our first published report. This technique avoids a skin incision or any resection in addition to no excision of tissue.

    Methods: A consecutive series of 16 patients. Read More

    Sphenoid Dysplasia: A Rare Presentation of Infantile Myofibroma.
    Ophthal Plast Reconstr Surg 2018 Mar/Apr;34(2):e65-e67
    Department of Ophthalmology and Visual Sciences, University of Louisville, and Department of Pathology, Norton Children's Hospital, Louisville, Kentucky, U.S.A.
    The authors report a case of isolated congenital orbital myofibroma causing sphenoid dysplasia and presenting as global restriction of extraocular motility and ptosis in a neonate. Sphenoid wing dysplasia is most commonly associated neurofibromatosis 1 but this patient had no evidence of neurofibromatosis on clinical examination and genetic testing. Congenital orbital myofibroma can have secondary effects on bone and likely the lesion was present early in development leading to aplasia of the sphenoid bone. Read More

    [Congenital Horner syndrome. Case report].
    Arch Argent Pediatr 2018 Feb;116(1):e85-e87
    Hospital de Niños "Dr. Ricardo Gutiérrez", Ciudad Autónoma de Buenos Aires.
    Horner syndrome is characterized by the following triad of clinical signs: miosis, ptosis and facial anhidrosis. In addition, iris heterochromia, conjunctival injection, facial erythema, congestive nasal mucosa and apparent enophthalmos secondary to the reduction of the palpebral fissure can appear. It is caused by an interruption of the sympathetic pathway that extends from the hypothalamus to the orbit. Read More

    Symmetry of Upper Eyelid Contour After Unilateral Blepharoptosis Repair With a Single-strip Frontalis Suspension Technique.
    Ophthal Plast Reconstr Surg 2018 Jan 10. Epub 2018 Jan 10.
    Division of Oculoplasty and Orbit, Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, São Paulo, Brazil.
    Purpose: To analyze the upper eyelid contour of patients with unilateral congenital ptosis who underwent single-strip frontalis suspension.

    Methods: The authors compared the upper eyelid shape of the right and left eyes of 10 patients who underwent unilateral frontalis suspension with a single strip of autogenous fascia. At a mean postoperative time of 10. Read More

    SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss.
    Clin Dysmorphol 2018 Apr;27(2):27-30
    Genetic Counselling and Diagnostics, Genetikum Stuttgart, Stuttgart.
    Heterozygous microdeletions of chromosome 2p21 encompassing only the SIX2 gene have been described in two families to date. The clinical phenotype comprised autosomal-dominant inherited frontonasal dysplasia with ptosis in one family. In the second family, conductive hearing loss was the major clinical feature described; however, the affected persons also had ptosis. Read More

    Cardiac arrest and ventricular arrhythmia in adults with Ebstein anomaly and left ventricular non-compaction.
    J Cardiol 2018 May 2;71(5):484-487. Epub 2018 Jan 2.
    Institute of Cardiology, Department of Congenital Heart Disease, Warsaw, Poland.
    Background: Ebstein anomaly is a complex, congenital heart defect that is associated with a variety of cardiac abnormalities. Studies found a similar sarcomere gene mutation in patients with Ebstein anomaly (EA) and patients with isolated left ventricular non-compaction (LVNC).

    Aim: We aimed to show the prevalence of LVNC and its potential relationship with severe cardiac events (VT - ventricular tachycardia, cardiac arrest) in adult patients with EA. Read More

    Repair of a Quadricuspid Autograft.
    Ann Thorac Surg 2018 Jan 2. Epub 2018 Jan 2.
    Department of Thoracic and Cardiovascular Surgery, Saarland University Medical Center, Homburg/Saar, Germany.
    Aortic valve replacement using a pulmonary autograft is an accepted option in children and young patients. The use of a pulmonary valve with congenital anomaly as autograft is controversial. We describe a case in which a quadricuspid pulmonary valve was used as autograft in childhood. Read More

    A 5-Year Follow-Up of Triple-Seronegative Myasthenia Gravis Successfully Treated with Tacrolimus Therapy.
    Neuropediatrics 2018 Jan 4. Epub 2018 Jan 4.
    Department of Pediatrics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
    Seronegative myasthenia gravis (MG) is a generalized form of MG that is diagnosed on the basis of clinical symptoms, electrophysiological testing, and pharmacological responses, in the absence of a seropositive status for anti-acetylcholine receptor (AChR) antibodies. Generalized MG that is seronegative for anti-AChR, anti-muscle-specific kinase (MuSK), and anti-low density lipoprotein receptor related protein 4 (Lrp4) antibodies is known as triple-seronegative MG. We here describe a case of triple-seronegative MG in an 8-year-old boy. Read More

    Long-term follow up of a boy with unilateral autosomal dominant polycystic kidney disease and contralateral renal agenesis.
    Dev Period Med 2017 ;21(4):380-383
    Department of Pediatric Radiology, Medical University of Warsaw, Poland.
    In patients with autosomal dominant polycystic kidney disease (ADPKD) coexisting abnormalities of the urinary tract are considered rare. Only a few patients with ADPKD and congenital abnormalities of the kidney and urinary tract- renal agenesis, hypoplasia, aplasia, horseshoe kidney, ectopic multicystic dysplasic kidney, or subpelvic junction obstruction were reported. Renal agenesis occurs in approximately 1 in 1. Read More

    Tricuspid Valve Adaptation during the First Interstage Period in Hypoplastic Left Heart Syndrome.
    J Am Soc Echocardiogr 2017 Dec 29. Epub 2017 Dec 29.
    Stollery Children's Hospital, Department of Biomedical Engineering, University of Alberta, Edmonton, Alberta, Canada.
    Background: Tricuspid regurgitation (TR) is an important risk factor for morbidity and mortality in hypoplastic left heart syndrome (HLHS), yet the evolution of tricuspid valve (TV) dysfunction in HLHS is poorly understood. This study sought to examine changes in TV function in HLHS between the first two stages of surgical palliation and to determine the mechanism of TR at the time of stage two surgery-bidirectional cavopulmonary anastomosis (BCPA).

    Methods: We prospectively investigated 44 infants at two time points-prior to Norwood-Sano (T1 - median age 5. Read More

    Double Rhomboid Suture Technique for Congenital Ptosis.
    J Pediatr Ophthalmol Strabismus 2018 Mar 19;55(2):117-121. Epub 2017 Dec 19.
    Purpose: Congenital ptosis is a troubling eye condition for pediatric ophthalmologists. There are many considerations to contemplate when deciding when to operate and which technique to use.

    Methods: A retrospective chart review of 69 pediatric patients treated for congenital ptosis using a double rhomboid frontalis sling with a nylon suture at a single tertiary care center. Read More

    Botulinum toxin for treating unilateral apraxia of eyelid opening in a patient with congenital myotonia.
    Arq Bras Oftalmol 2017 Sep-Oct;80(5):330-331
    Department of Ophthalmology, Rio Hortega University Hospital, Dulzaina St, Valladolid, Spain.
    A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. Read More

    [Clinical characteristics and surgical effect observation of congenital aniridia combined with cataract].
    Zhonghua Yan Ke Za Zhi 2017 Nov;53(11):821-827
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, Guangdong, 510060, China.
    To analyze the clinical manifestations, surgical approaches and postoperative prognosis for the cases of congenital aniridia combined with cataract. In this retrospective case series, 26 patients diagnosed with congenital aniridia combined with cataract were collected from Zhongshan Ophthalmic Center from February 2002 to August 2016. The Clinical data were collected to analyze the clinical features, surgical approaches and postoperative prognosis. Read More

    Congenital Myasthenic Syndrome due to mutations in a family from Chile.
    Eur J Transl Myol 2017 06 20;27(3):6832. Epub 2017 Sep 20.
    Department of Neurology, University of California Davis, Davis CA, USA
    Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Read More

    Associates and Prognosis of Giant Left Atrium; Single Center Experience.
    J Cardiovasc Ultrasound 2017 Sep 29;25(3):84-90. Epub 2017 Sep 29.
    Division of Cardiology, Heart Center, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
    Background: Left atrial (LA) remodeling develops as a result of longstanding pressure overload. However, determinants and clinical outcome of excessive remodeling, so called giant left atrium (GLA), are not clear.

    Methods: Clinical characteristics of patients with GLA (antero-posterior diameter higher than 65 mm), including echo-Doppler parameters, and follow-up clinical outcomes from a tertiary referral hospital were investigated. Read More

    Seipin deficiency leads to defective parturition in mice.
    Biol Reprod 2017 Sep;97(3):378-386
    Department of Physiology and Pharmacology, College of Veterinary Medicine, University of Georgia, Athens, Georgia, United States of America.
    Seipin is an integral endoplasmic reticulum membrane protein encoded by Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2/Bscl2) gene. Seipin deficiency results in lipodystrophy, diabetes, muscle hypertrophy, and male infertility in both human and mouse. Seipin function in female reproduction is unknown. Read More

    A congenital cranial dysinnervation disorder: Möbius' syndrome.
    Turk Pediatri Ars 2017 Sep 1;52(3):165-168. Epub 2017 Sep 1.
    Department of Pediatrics, Division of Pediatric Neurology, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey.
    Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypoplastic fingers and finger nails on the left hand, and was diagnosed as having Möbius' syndrome. Read More

    De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
    BMC Med Genet 2017 10 23;18(1):118. Epub 2017 Oct 23.
    Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.
    Background: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36. Read More

    The Use of Botulinum Toxin to Treat Infantile Esotropia: A Systematic Review With Meta-Analysis.
    Invest Ophthalmol Vis Sci 2017 10;58(12):5468-5476
    Ophthalmology and Visual Sciences, Federal University of Sao Paulo, Sao Paulo, Brazil.
    Purpose: The purpose of this review was to examine the efficacy of botulinum toxin in the treatment of infantile esotropia and to evaluate the average response of BT and its complication rates.

    Methods: A research was performed in the Latin American and Caribbean Literature on Health Sciences (LILACS), MEDLINE, and Cochrane Central Register of Controlled Trial (CENTRAL). The database was searched between December 28, 2016 and January 30, 2017. Read More

    Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.
    Int Ophthalmol 2017 Oct 22. Epub 2017 Oct 22.
    Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 E Chicago Avenue, Box 70, Chicago, IL, 60611, USA.
    Purpose: To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms.

    Methods: A retrospective chart review of the patient's ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES). Read More

    [Whitnall's ligament suspension technique in ptosis surgery].
    J Fr Ophtalmol 2017 Nov 18;40(9):763-769. Epub 2017 Oct 18.
    Department A of ophtalmology, Teaching hospital of Rabat, Mohamend V Souissi University, 10170 Souissi, Rabat, Maroc.
    Introduction: We report our experience in ptosis surgery using the technique of Whitnall's ligament suspension in congenital ptosis.

    Materials And Methods: A retrospective study of 20 cases of congenital ptosis treated by the technique of Whitnall's ligament suspension, 8 by the posterior approach and 12 by the anterior approach. Patients were randomized into 3 groups according to upper eyelid levator function. Read More

    Management of a case of divergent strabismus fixus secondary to a congenital fibrosis of extraocular muscles type 2.
    Indian J Ophthalmol 2017 Oct;65(10):1061-1063
    Pediatric Ophthalmology and Strabismus Services, Narayana Nethralaya 2, Bengaluru, Karnataka, India.
    A 17-year-old boy presented with a large exotropia with both eyes fixed in an abduction and upgaze, pupillary involvement since childhood. He had mild optic nerve hypoplasia in the right eye and situs inversus of the retinal vessels in the left optic disc. His ocular motility showed restriction of eye movements in all gazes. Read More

    Determination of the Amount of Ptosis Correction in Levator Resection Surgery for Pediatric Congenital Ptosis.
    Aesthetic Plast Surg 2018 Feb 12;42(1):201-207. Epub 2017 Oct 12.
    Department of Ophthalmology, The Institute of Vision Research, Yonsei University College of Medicine, Seoul, Korea.
    Background: It is difficult to determine the amount of eyelid lift in levator resection surgery for congenital ptosis, especially when the surgery is performed under general anesthesia. We aim to introduce an objective and steady method with which to adjust eyelid height, and to identify other factors to be considered during surgery.

    Methods: This is a retrospective, observational study of 110 eyes from 78 patients who underwent levator resection surgery for congenital ptosis. Read More

    A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
    Hum Mol Genet 2017 10;26(20):4055-4066
    Institute of Human Genetics, University Hospital Cologne, 50931 Cologne, Germany.
    Congenital cranial dysinnervation disorders (CCDDs) comprise a heterogeneous spectrum of diseases characterized by congenital, non-progressive impairment of eye, eyelid and/or facial movements including Möbius syndrome, Duane retraction syndrome, congenital ptosis, and congenital fibrosis of the extraocular muscles. Over the last 20 years, several CCDDs have been identified as neurodevelopmental disorders that are caused by mutations of genes involved in brain and cranial nerve development, e.g. Read More

    Atrioventricular valve regurgitation in patients undergoing total cavopulmonary connection: Impact of valve morphology and underlying mechanisms on survival and reintervention.
    J Thorac Cardiovasc Surg 2018 Feb 15;155(2):701-709.e6. Epub 2017 Sep 15.
    Department of Cardiovascular Surgery, German Heart Center Munich at the Technical University of Munich, Munich, Germany; German Centre for Cardiovascular Research, Munich, Germany.
    Objective: The study objective was to determine the mechanisms of atrioventricular valve regurgitation in single-ventricle physiology and their influence on outcomes after total cavopulmonary connection.

    Methods: Among 460 patients who underwent a total cavopulmonary connection, 101 (22%) had atrioventricular valve surgery before or coincident with total cavopulmonary connection.

    Results: Atrioventricular valve morphology showed 2 separated in 33 patients, mitral in 11 patients, tricuspid in 41 patients, and common in 16 patients. Read More

    Isolated aortic root dilation in homocystinuria.
    J Inherit Metab Dis 2018 Jan 4;41(1):109-115. Epub 2017 Oct 4.
    Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
    Background: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.

    Methods: We conducted a cross-sectional study of patients with homocystinuria, known to a single metabolic centre, and evaluated in 2016 with a transthoracic echocardiogram. Aortic root dilation was defined as Z-score ≥ 2. Read More

    A case of combined Morgagni and esophageal hiatal hernias successfully repaired by endoscopy and laparoscopy.
    Nihon Shokakibyo Gakkai Zasshi 2017;114(10):1836-1844
    Department of Gastroenterology and Hepatology, Nagasaki University Graduate School of Biomedical Sciences.
    An 87-year-old woman with a 4-month history of postprandial gastrointestinal obstruction was admitted to our facility after suddenly vomiting black matter. Computed tomography and esophagogastroduodenoscopy revealed gastric prolapse and prolapse of the duodenum and transverse colon. Morgagni hernia combined with esophageal hiatal hernia was diagnosed. Read More

    1 OF 53