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    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 Jan 30. 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 ingene 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 Jan 17. Epub 2018 Jan 17.
    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 Jan 8. Epub 2018 Jan 8.
    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 Jan 2. 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 2017 Dec 19:1-5. 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 tomutations 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 Oct;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 Oct;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

    Paraesophageal Hernia as a Cause of Chronic Asymptomatic Anemia in a 6 Years Old Boy; Case Report and Review of the Literature.
    Acta Medica (Hradec Kralove) 2017 ;60(2):76-81
    1st Department of Pediatric Surgery, Aristotle University of Thessaloniki, GH G. Gennimatas, 41 Ethnikis Aminis Street, 54635, Thessaloniki, Greece.
    Esophageal hiatal hernia is defined as the prolapse of one or more intra-abdominal organs through the esophageal hiatus. Four types are identified: type Ι or sliding hiatal hernia, type II or paraesophageal hernia (PEH), type III or mixed hernia and type IV. Congenital type II esophageal hiatal hernia is caused by a remaining gap after the formation of pleuroperitoneal membrane. Read More

    Urethral prolapse in prepubertal females: Report of seven cases.
    J Obstet Gynaecol Res 2018 Jan 4;44(1):175-178. Epub 2017 Oct 4.
    Department of Obstetrics and Gynecology, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
    Urethral prolapse is a rare lesion in female children, with a suggested incidence of one in 5000 in China. Most of the cases reported in children have been in girls of African descent. In this report, we present seven cases of Chinese pediatric patients with urethral prolapse. Read More

    Pediatric Myasthenia Gravis.
    Semin Pediatr Neurol 2017 May 7;24(2):116-121. Epub 2017 Apr 7.
    Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA. Electronic address:
    Myasthenia gravis is a disorder of neuromuscular transmission that leads to fatigue of skeletal muscles and fluctuating weakness. Myasthenia that affects children can be classified into the following 3 forms: transient neonatal myasthenia, congenital myasthenic syndromes, and juvenile myasthenia gravis (JMG). JMG is an autoimmune disorder that has a tendency to affect the extraocular muscles, but can also affect all skeletal muscles leading to generalized weakness and fatigability. Read More

    Surgical Outcomes of Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery in Children: An Echocardiography Follow-up.
    Chin Med J (Engl) 2017 Oct;130(19):2333-2338
    Heart Center, Children's Hospital of Fudan University, Shanghai 201102, China.
    Background: Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare but potentially life-threatening congenital heart defect. A retrospective analysis was carried out to elucidate the surgical outcomes of ALCAPA in infants and children using follow-up echocardiography.

    Methods: From September 2008 to March 2017, 26 children diagnosed with ALCAPA underwent left coronary re-implantation. Read More

    Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1.
    Medicine (Baltimore) 2017 Sep;96(38):e8068
    aSchool of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, State Key Laboratory Cultivation Base and Key Laboratory of Vision Science, Ministry of Health and Zhejiang Provincial Key Laboratory of Ophthalmology and Optometry, Wenzhou, Zhejiang Province bDepartment of Ophthalmology, The Third People's Hospital of Mianyang, Sichuan Province cThe Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang Province, China.
    The aim of the study is to characterize the clinical ocular phenotype with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and to confirm whether the kinesin family member 21A (KIF21A) mutation was the pathogenic gene in this Chinese family.Three affected individuals and 2 asymptomatic kinsfolk from a Chinese family underwent comprehensive ophthalmic examinations, orbital computerized tomography (CT), and postoperative histological examinations were performed in the proband. All the recruited members were screened for 3 exons (8, 20, and 21) of KIF21A mutations using the polymerase chain reaction (PCR) amplification and direct sequencing of corresponding PCR products. Read More

    The Value of the Frontalis Suspension Procedure as a Repeat Intervention in Congenital Blepharoptosis.
    J Pediatr Ophthalmol Strabismus 2017 Sep;54(5):320-323
    Purpose: To evaluate the therapeutic benefits of frontalis suspension as a repeat intervention in congenital blepharoptosis.

    Methods: Pediatric patients diagnosed as having congenital ptosis who had at least 2 years of postoperative follow-up were included in this retrospective study. A successful outcome was defined as a postoperative margin-reflex distance of 3 mm or greater. Read More

    The protective efficacy and safety of bandage contact lenses in children aged 5 to 11 after frontalis muscle flap suspension for congenital blepharoptosis: A single-center randomized controlled trial.
    Medicine (Baltimore) 2017 Sep;96(36):e8003
    Department of Ophthalmology, Children's Hospital, Chongqing Medical University, Chongqing, China.
    Background: Postoperative complications, lagophthalmos and exposure keratopathy sometimes occur after surgery for congenital blepharoptosis. Bandage contact lenses (BCL) can help prevent some ocular surface disorders. The study aims to evaluate the efficacy and safety of BCL for protection of the ocular surface in children aged 5 to 11 years after frontalis muscle flap suspension for congenital blepharoptosis. Read More

    A Very Unlikely Finding in a Male Child: Urethral Prolapse.
    European J Pediatr Surg Rep 2017 Jan 31;5(1):e36-e38. Epub 2017 Aug 31.
    Department of Pathology, Istanbul Medeniyet University Goztepe Training and Research Hospital, Istanbul, Turkey.
    Urethral prolapse is a disease of prepubertal black girls and postmenopausal women with an unknown cause. It may be congenital in origin or an acquired condition. It has never been reported in males. Read More

    Anatomical and clinical predictors of valve dysfunction and aortic dilation in bicuspid aortic valve disease.
    Heart 2017 Sep 1. Epub 2017 Sep 1.
    Servei de Cardiologia, Hospital Universitari Vall d'Hebron, CIBER-CV, Barcelona, Spain.
    Objective: Bicuspid aortic valve (BAV) is associated with early valvular dysfunction and proximal aorta dilation with high heterogeneity. This study aimed to assess the determinants of these complications.

    Methods: Eight hundred and fifty-two consecutive adults diagnosed of BAV referred from cardiac outpatient clinics to eight echocardiographic laboratories of tertiary hospitals were prospectively recruited. Read More

    Ptosis, miosis and cats.
    BMJ Case Rep 2017 Aug 24;2017. Epub 2017 Aug 24.
    Departamento de Pediatria, Hospital Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal.
    Horner's syndrome (HS) is caused by a disruption in the oculosympathetic pathway. Both congenital and acquired HS are unusual in children. Acquired HS can be caused by trauma, surgical intervention, tumours, vascular malformations or infection. Read More

    Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
    Neuromuscul Disord 2017 Nov 30;27(11):975-985. Epub 2017 May 30.
    Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil. Electronic address:
    Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Read More

    Timing of surgical correction for the treatment of unilateral congenital ptosis: Effects on cosmetic and functional results.
    Orbit 2017 Dec 16;36(6):382-387. Epub 2017 Aug 16.
    d Department of Epidemiology and Prevention , IRCCS Istituto Neurologico Mediterraneo Neuromed , Pozzilli , IS , Italy.
    The authors analyzed the cosmetic and functional results of a series of patients with unilateral congenital ptosis who underwent levator resection, to compare the outcome of surgery according to the age of intervention, and to evaluate the chance of ptosis recurrence in different age groups. Analysis of the clinical charts of 44 patients who underwent a unilateral levator muscle resection under the care of one surgeon from February 2000 to March 2012 was performed. Age at the time of surgery ranged from 2. Read More

    Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
    Am J Med Genet A 2017 Oct 4;173(10):2763-2771. Epub 2017 Aug 4.
    McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
    Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Read More

    Left main coronary artery atresia in a child: a case report and review of the literature.
    Cardiol Young 2017 Nov 3;27(9):1841-1844. Epub 2017 Aug 3.
    Department of Pediatrics,Kurashiki Central Hospital,Kurashiki,Japan.
    Congenital atresia of the left coronary artery is a very rare condition. We report a case of a 13-year-old boy who was followed-up at our outpatient clinic from 6 months of age because of heart murmur. He had no symptoms for more than 10 years, and his left ventricular contraction was normal. Read More

    A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.
    BMC Genet 2017 08 2;18(1):74. Epub 2017 Aug 2.
    Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001, Bern, Switzerland.
    Background: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Read More

    Treatment of Children With Congenital Severe Blepharoptosis by Frontalis Aponeurosis Flap Advancement Under General Anesthesia in a Single Incision.
    J Craniofac Surg 2017 Sep;28(6):1495-1497
    Plastic Surgery Department, Children's Hospital of Fudan University, Shanghai, China.
    Purpose: This study aimed to investigate the effect of frontalis aponeurosis flap advancement in children with congenital severe blepharoptosis.

    Methods: A total of 23 cases (25 eyes) of children who had congenital severe blepharoptosis and poor levator function (≤4 mm) and received frontalis aponeurosis flap advancement treatment in the Plastic Surgery Department of the Children's Hospital of Fudan University from January 1, 2013, to January 1, 2015, were retrospectively analyzed to evaluate the postoperative effects.

    Results: All patients (age range, 6-27 months) were followed up for an average duration of 15. Read More

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