Search Our Scientific Publications & Authors

Crit Care 2022 03 28;26(1):83. Epub 2022 Mar 28.

Institute of Pathology, University Hospital RWTH Aachen, Pauwelsstraße 30, 52074, Aachen, Germany.

Background: In severe cases, SARS-CoV-2 infection leads to acute respiratory distress syndrome (ARDS), often treated by extracorporeal membrane oxygenation (ECMO). During ECMO therapy, anticoagulation is crucial to prevent device-associated thrombosis and device failure, however, it is associated with bleeding complications. In COVID-19, additional pathologies, such as endotheliitis, may further increase the risk of bleeding complications. Read More

J Craniofac Surg 2022 Mar 8. Epub 2022 Mar 8.

Department of Plastic and Reconstructive Surgery, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.

Background: Facial palsy is a complex problem and goal of reanimation is to achieve symmetric face at rest and spontaneous smile. In our study the authors performed facial reanimation in long standing cases of facial palsy (more than 1 year), gracilis muscle was used as a free functioning muscle transfer. Two motor donor nerves were used: cross-face nerve graft and masseter nerve. Read More

Br J Anaesth 2021 Nov 10. Epub 2021 Nov 10.

Department of Anaesthesiology and Intensive Care Medicine, Pulmonary Engineering Group, University Hospital Carl Gustav Carus Dresden, Dresden, Germany.

Background: Patient-ventilator asynchrony during mechanical ventilation may exacerbate lung and diaphragm injury in spontaneously breathing subjects. We investigated whether subject-ventilator asynchrony increases lung or diaphragmatic injury in a porcine model of acute respiratory distress syndrome (ARDS).

Methods: ARDS was induced in adult female pigs by lung lavage and injurious ventilation before mechanical ventilation by pressure assist-control for 12 h. Read More

Am J Ophthalmol 2022 05 13;237:83-90. Epub 2021 Nov 13.

From the Department of Ophthalmology (V.U.W., D.G.H., S.M., M.A.K., G.H., L.R.D.), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:

Purpose: To describe outcomes after treatment of Moebius syndrome (MBS) esotropia by adjustable bilateral medial rectus recession (BMR) with and without augmented superior rectus transposition (SRT).

Design: Retrospective case series.

Methods: Patients meeting 2014 diagnostic criteria for MBS and treated at Boston Children's Hospital between 2003 and 2019 were identified via billing records and chart review. Read More

Sci Rep 2021 09 29;11(1):19342. Epub 2021 Sep 29.

Institute of Medical Microbiology, Virology, and Hygiene, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Coronavirus disease 19 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has become a global pandemic with significant mortality. Accurate information on the specific circumstances of death and whether patients died from or with SARS-CoV-2 is scarce. To distinguish COVID-19 from non-COVID-19 deaths, we performed a systematic review of 735 SARS-CoV-2-associated deaths in Hamburg, Germany, from March to December 2020, using conventional autopsy, ultrasound-guided minimally invasive autopsy, postmortem computed tomography and medical records. Read More

J Clin Endocrinol Metab 2022 01;107(1):e38-e43

Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi-Hirokoji, Kamigyo-ku, Kyoto 602-8566, Japan.

Context: Nonalcoholic fatty liver disease (NAFLD) is becoming a major issue worldwide, even in children. Multiple parallel hits hypothesis has been suggested as progress of NAFLD, but the mechanism of NAFLD is not completely understood. β-Tubulin is essential in mitoses, neuronal migration, and axon guidance during neuronal development. Read More

Brain Dev 2022 Jan 13;44(1):73-76. Epub 2021 Aug 13.

Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan.

Moebius syndrome (MBS) is a congenital disorder characterized by facial and abducens palsy, sometimes accompanied with other cranial nerve palsies and comorbid conditions. Anatomical anomalies of the brainstem are assumed to be major etiologies of MBS. Its phenotypic presentation can be variable. Read More

J Plast Reconstr Aesthet Surg 2022 Jan 12;75(1):265-270. Epub 2021 Jun 12.

Division of Plastic and Reconstructive Surgery, The Hospital for Sick Children, Division of Plastic and Reconstructive Surgery, University of Toronto, 555 University Avenue, Toronto ON, Canada M5G 1 × 8.

Facial paralysis may result in significant functional, esthetic, and psychological morbidity. Mobius syndrome is a form of bilateral congenital facial paralysis that is particularly difficult to treat owing to the lack of readily available donor nerves, particularly in the upper face. In this study, we evaluate the feasibility of using the deep temporal nerves as donors for the innervation of free muscle grafts in the periorbital region. Read More

Am J Physiol Cell Physiol 2021 09 21;321(3):C504-C506. Epub 2021 Jul 21.

Centre for Human and Applied Physiological Sciences, School of Basic & Medical Biosciences, Faculty of Life Sciences & Medicine, Guy's Campus, King's College London, London, United Kingdom.

Neural Plast 2021 24;2021:8890541. Epub 2021 Mar 24.

Unit of Neuroscience, Department of Medicine and Surgery, University of Parma, Italy.

Objective: To perform a preliminary test of a new rehabilitation treatment (FIT-SAT), based on mirror mechanisms, for gracile muscles after smile surgery.

Method: A pre- and postsurgery longitudinal design was adopted to study the efficacy of FIT-SAT. Four patients with bilateral facial nerve paralysis (Moebius syndrome) were included. Read More

Orphanet J Rare Dis 2021 04 7;16(1):162. Epub 2021 Apr 7.

Ophthalmology Unit, Department of Medicine and Surgery, University of Parma, Via Gramsci 14, 43125, Parma, Italy.

Background: The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area.

Materials And Methods: Our university hospital is the only national referral center for the diagnosis and treatment of MBS. Read More

J Craniofac Surg 2021 Oct;32(7):2446-2448

Plastic and Reconstructive Surgery Division, "Dr. Manuel Gea Gonzalez" General Hospital. National Autonomous University of Mexico.

Background: Patients with Moebius syndrome may present a wide range of associated orofacial malformations, however, their craniofacial morphology has not been established via controlled cephalometric studies.

Objective: To present our institution's findings in the cephalometric evaluation in patients with Moebius syndrome.

Methods: Retrospective, cross-sectional study that included patients with Moebius syndrome over 9 years of age who had lateral cephalometric radiographs. Read More

J Mol Med (Berl) 2021 03 20;99(3):415-423. Epub 2021 Jan 20.

Department of Medical Genetics, Medical University of Warsaw, 02-106, Warsaw, Poland.

REV3L encodes a catalytic subunit of DNA polymerase zeta (Pol zeta) which is essential for the tolerance of DNA damage by inducing translesion synthesis (TLS). So far, the only Mendelian disease associated with REV3L was Moebius syndrome (3 patients with dominant REV3L mutations causing monoallelic loss-of-function were reported). We describe a homozygous ultra-rare REV3L variant (T2753R) identified with whole exome sequencing in a child without Moebius syndrome but with developmental delay, hypotrophy, and dysmorphic features who was born to healthy parents (heterozygous carriers of the variant). Read More

Muscle Nerve 2021 04 19;63(4):516-524. Epub 2021 Jan 19.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Introduction: Congenital facial weakness (CFW) can result from facial nerve paresis with or without other cranial nerve and systemic involvement, or generalized neuropathic and myopathic disorders. Moebius syndrome is one type of CFW. In this study we explored the utility of electrodiagnostic studies (EDx) in the evaluation of individuals with CFW. Read More

J Craniomaxillofac Surg 2020 Dec 31;48(12):1132-1137. Epub 2020 Oct 31.

Maxillo-Facial Specialist in the Maxillo-Facial Surgery Operative Unit, Head and Neck Department, University of Parma, Via Gramsci 14, 43126, Parma, Italy. Electronic address:

Gracilis neuromuscular transplant is considered the gold standard for facial animation in Moebius syndrome patients. However, long-term evaluation of the results has not been critically examined in the international literature. Thus, it remains unknown how the transplanted flap changes with facial growth, and whether contraction (smiling) is maintained. Read More

Clin Imaging 2021 Mar 6;71:106-116. Epub 2020 Nov 6.

Department of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura, Egypt.

We aim to review the imaging features of congenital cranial dysinnervation disorders. Characteristic imaging findings can define subtypes of these disorders through assessment of cranial nerves, extraocular muscles, orbital, and brain abnormalities. Duane retraction syndrome shows absent or hypoplasic 6th cranial nerve and preserved extraocular muscles (EOM). Read More

Cleft Palate Craniofac J 2021 07 12;58(7):906-911. Epub 2020 Oct 12.

The 1st Department of Oral and Maxillofacial Surgery, 314275Osaka University, Graduate School of Dentistry, Osaka, Japan.

Ankyloglossia superior syndrome is an extremely rare entity in which centrally located glossopalatine ankylosis is a principal feature. Some cases are accompanied by cleft palate, micrognathia, or tongue hypoplasia, and affected patients need careful nutritional and respiratory support. We describe a newborn girl in whom ankyloglossia superior syndrome comprised complex craniofacial malformations, including cleft palate, micrognathia, microglossia, and natal teeth as well as limb anomalies. Read More

Cureus 2020 Sep 2;12(9):e10215. Epub 2020 Sep 2.

Pediatrics, Ascension Sacred Heart Hospital, University of Florida, Pensacola, USA.

Poland-Mobius syndrome is a rare congenital disorder that includes features of Poland and Mobius syndromes. It is characterized by unilateral or bilateral congenital facial weakness, impairment of abduction of eyes, associated limb anomalies, and aplasia or hypoplasia of the pectoralis muscle. We describe a case of Poland-Mobius syndrome in a neonate associated with unilateral vocal cord immobility. Read More

Graefes Arch Clin Exp Ophthalmol 2021 Jan 19;259(1):145-155. Epub 2020 Sep 19.

Department of Ophthalmology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Kerpener Strasse 62, 50937, Cologne, Germany.

Background: For some patients with complex ocular motility disorders, conventional strabismus surgery is insufficient. Surgery with tendon elongation allows correction of larger angles and maintains a sufficient arc of contact for rectus muscles. This study reports results for tendon elongation with bovine pericardium (Tutopatch®) in indications other than Graves' orbitopathy in which it is already widely used. Read More

Int J Pediatr Otorhinolaryngol 2020 Nov 15;138:110316. Epub 2020 Aug 15.

Plastic and Reconstructive Surgery Division, Hospital General Dr. Manuel Gea González, Mexico City, Mexico. Electronic address:

Background: Moebius syndrome (MS) is characterized by congenital bilateral paralysis of the facial and abducens nerves. Clinical features include feeding problems, dysarthria, dysphagia, sialorrhea, strabismus, and lack of facial expression. Patients with MS frequently present with dysphagia during infancy. Read More

Int J Environ Res Public Health 2020 07 30;17(15). Epub 2020 Jul 30.

Oxford Facial Palsy Service, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.

Introduction: Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published research with regards to psychosocial adjustment for children and adolescents with facial palsy. Read More

Am J Audiol 2020 Jun 21;29(2):236-243. Epub 2020 May 21.

School of Public Health, Shandong University, Jinan, China.

Objectives The purpose of this study is to ascertain the etiology of bilateral sensorineural hearing loss (SNHL) in children aged ≤ 18 years living in Shandong province. Method Data were taken from a cross-sectional study, which was conducted between 2015 and 2017. The study included children aged ≤ 18 years, recruited from special schools for children with hearing loss and from hearing rehabilitation centers in Shandong province of China. Read More

Acad Emerg Med 2020 07 23;27(7):644-645. Epub 2020 Jun 23.

Vivantes Humboldt Klinikum, Zentrale Notfallversorgung, Berlin, Germany.

Elife 2020 05 4;9. Epub 2020 May 4.

Department of Psychology, Harvard University, Cambridge, United States.

What mechanisms underlie facial expression recognition? A popular hypothesis holds that efficient facial expression recognition cannot be achieved by visual analysis alone but additionally requires a mechanism of motor simulation - an unconscious, covert imitation of the observed facial postures and movements. Here, we first discuss why this hypothesis does not necessarily follow from extant empirical evidence. Next, we report experimental evidence against the central premise of this view: we demonstrate that individuals can achieve normotypical efficient facial expression recognition despite a congenital absence of relevant facial motor representations and, therefore, unaided by motor simulation. Read More

J Neuromuscul Dis 2020 ;7(3):309-313

Sección Neurología Infantil, Servicio de Neurología, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Spain.

Carey-Fineman-Ziter syndrome is a congenital myopathy associated with mutations in the MYMK gene. It is clinically defined by the combination of hypotonia, Moebius-Robin sequence, facial anomalies and motor delay. Historically it was considered a brainstem dysgenesis syndrome. Read More

Radiol Case Rep 2020 Apr 5;15(4):379-381. Epub 2020 Feb 5.

Department of Radiology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.

Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence or hypoplasia of the facial or abducens nerve, either unilaterally or bilaterally. Described here is a case in a newborn male in which both conditions manifest simultaneously as Poland-Möbius syndrome. Read More

J AAPOS 2020 04 23;24(2):115-118. Epub 2020 Jan 23.

Department of Ophthalmology and Visual Sciences, Illinois Eye and Ear Infirmary, University of Illinois at Chicago, Chicago, Illinois. Electronic address:

Townes-Brocks syndrome (TBS) is a rare genetic syndrome associated with heterozygous mutations in SALL1 and characterized by abnormalities of the anus, ear, and thumb. Ophthalmic findings have been rarely reported and include congenital cataract, microphthalmia, optic nerve atrophy, coloboma, epibulbar dermoid, and dysinnervation patterns, such as Duane syndrome and gustatory lacrimation. We report a case of genetically confirmed TBS showing a spectrum of ocular anomalous innervations, including bilateral type 1 Duane syndrome and Möbius sequence, left-sided Marcus Gunn jaw winking, left eye gustatory lacrimation, and lack of emotional tearing bilaterally. Read More

Cir Cir 2020 ;88(1):71-75

División de Estudios de Posgrado, Universidad Nacional Autónoma de México. Ciudad de México, México.

Background: Moebius syndrome is a clinical entity characterized by bilateral facial and abducens nerve palsies; other cranial nerver might be affected as well. So far, no studies have reported the electromyographic responses of the facial musculature in this group of patients.

Objective: The objective of our study is to describe the electromyographic responses of the facial muscle and the main donor nerves for facial reanimation in patients with Moebius syndrome. Read More

Int J Pediatr Otorhinolaryngol 2020 Apr 30;131:109842. Epub 2019 Dec 30.

Pediatric ENT and Facial Plastic Surgery, Children's of Minnesota, University of Minnesota Department of Otolaryngology-Head and Neck Surgery, Minneapolis, MN, USA. Electronic address:

Objectives: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. Read More

Dev Med Child Neurol 2020 04 12;62(4):521-527. Epub 2019 Nov 12.

Centre de Référence des Fentes et Malformations Faciales 'MAFACE', Hôpital Necker-Enfants-Malades, Paris, France.

Aim: To review orofacial disabilities and their consequences in children with Moebius syndrome (MBS).

Method: We retrospectively analysed the records of 32 patients (21 males, 11 females) with non-progressive bilateral facial and abducens palsies who had been examined before 6 months of age.

Results: All facial muscles were severely involved in 17 patients; in the 15 others, partial movements were found in the lower face. Read More