Search Our Scientific Publications & Authors

J Craniofac Surg 2020 Jun 24. Epub 2020 Jun 24.

Division of Neurosurgery, University of Alberta, Edmonton, Canada.

Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder characterized by a broad range of congenital malformations including craniosynostosis, cutis gyrata, facial deformities, and abnormal genitalia. The authors report a case of a 7 month old female who developed a mechanical ptosis secondary to dermatochalasis as a complication of fronto-orbital advancement and remodeling (FOAR) surgery which subsequently required multiple lid surgeries to reverse ptosis. This is the first report of blepharoptosis correction in a child with BSS as a complication of FOAR. Read More

J Cutan Pathol 2020 Jun 28. Epub 2020 Jun 28.

Department of Dermatology, Mayo Clinic, Rochester, Minnesota.

Acral localized acquired cutis laxa (ALACL) is a rare variant of acquired cutis laxa, and the clinical appearance is characterized by loose, redundant and wrinkled skin of the distal extremities. By definition, histology of affected tissue reveals sparse or fragmented elastic fibers. However, this can be difficult to assess on routine staining, and sometimes requires electron microscopy. Read More

Int J Cosmet Sci 2020 Jun 24. Epub 2020 Jun 24.

Johnson &, Johnson Consumer Inc, Skillman, NJ, USA.

The elastin fiber network in the dermis enables the skin to stretch and recoil. Unlike other extracellular matrix (ECM) components such as collagen and hyaluronic acid, which are continually synthesized and assembled through life, elastic fibers are primarily synthesized during late gestation and early childhood, have a half-life of about 70 years, and are therefore considered to persist through an individual's lifespan. However, due to common aging processes, accelerated by environmental factors, elastic fibers are enzymatically degraded through elastases and cannot be repaired or replaced properly. Read More

Plast Reconstr Surg Glob Open 2019 Dec 31;7(12):e2561. Epub 2019 Dec 31.

Plastic Department of Chongqing Emergency Medical Center of Chongqing University, Chongqing, China.

The inferior orbitopalpebral sulcus deformity is challenging during lower eyelid blepharoplasty. Plastic surgeons are currently addressing each case individually, depending on the patient's unique circumstances. Nevertheless, patients with large orbital grooves often complain that the inferior orbitopalpebral sulcus is not sufficiently improved. Read More

J Inherit Metab Dis 2020 May 17. Epub 2020 May 17.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalised connective tissue ageing, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metabolism and lead to severe neurological symptoms. In a patient with cutis laxa, a choreoathetoid movement disorder, dysmorphic features and intellectual disability we performed exome sequencing to elucidate the underlying genetic defect. Read More

Genes (Basel) 2020 May 13;11(5). Epub 2020 May 13.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. Read More

J Ophthalmol 2020 9;2020:1310947. Epub 2020 Apr 9.

Antalya Education and Research Hospital, Department of Ophthalmology, Antalya, Turkey.

Purpose: To compare perioperative visual field (VF), balance functions (BF), and changes in the other ocular parameters in patients undergoing upper eyelid dermatochalasis (DC) surgery.

Methods: One hundred and fifty-eight eyes of 79 patients who underwent DC surgery were included in the study. The VF, BF, intraocular pressure (IOP), pachymetry (PM), macular, and optic nerve measurements were recorded. Read More

Mol Vis 2020 2;26:345-354. Epub 2020 May 2.

Research Unit, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico.

Purpose: Familial amyloidosis of the Finnish type (FAF) is an inherited amyloidosis arising from mutations in the gelsolin protein (GSN). The disease includes facial paralysis, loose skin, and lattice corneal dystrophy. To date, FAF has been invariably associated with substitution of Asp214 in GSN. Read More

Clin Imaging 2020 Apr 18;65:33-36. Epub 2020 Apr 18.

Department of Radiology, Papa Giovanni XXIII Hospital, Bergamo, Italy.

The incidence of bladder diverticula in the pediatric population is unknown as they are often asymptomatic. A minority of cases are a manifestation of a genetic syndrome. Primary diverticula have different features compared to secondary diverticula, which are generally caused by an obstructive or iatrogenic mechanism. Read More

J Pediatr Genet 2020 Jun 22;9(2):125-131. Epub 2019 Oct 22.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

Autosomal recessive type I cutis laxa is genetically heterogeneous. Biallelic mutations in latent transforming growth factor β-binding protein 4 (LTBP4; MIM*604710) lead to type 1C cutis laxa due to nonsense, frameshift, single base pair indels, or duplication mutations. In this report, we describe the first Indian family with cutis laxa as a result of a novel 19 base pair homozygous deletion leading to premature termination of short isoform LTBP-4S. Read More

Turk J Haematol 2020 Apr 24. Epub 2020 Apr 24.

Assistant Professor, Department of Haematology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi-110029, India.

Int Ophthalmol 2020 Apr 22. Epub 2020 Apr 22.

Department of Biostatistics, Faculty of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.

Purpose: Dermatochalasis is a clinical condition characterized by loss of elasticity of eyelid skin and soft tissue, which typically affects the elderly population. The aim of this study is to investigate the mRNA expression levels of collagen type 1 alpha 1 (COL1A1) and matrix metalloproteinase-9 (MMP9) genes in dermatochalasis tissue.

Methods: The study group consisted of 15 patients who underwent upper eyelid blepharoplasty and were above 40 years old. Read More

Arch Plast Surg 2020 Mar 15;47(2):171-177. Epub 2020 Mar 15.

Department of Plastic and Reconstructive Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Background: Infrabrow blepharoplasty has become a common surgical method used to rejuvenate aged upper eyelids in Asians. In this paper, we describe the parallel excision method for infrabrow blepharoplasty as a useful alternative to the conventional elliptical excision method. The authors' experience over a 3-year period is presented and reviewed. Read More

Pan Afr Med J 2019 12;34:195. Epub 2019 Dec 12.

Service de Pédiatrie, CHU Mohammed VI, Université Mohammed I, Oujda, Maroc.

"Cutis laxa" (CL) are rare elastic tissue disorders characterized by loose, sagging skin. They can be a congenital or acquired condition. Inherited cutis laxa is a heterogeneous group of disorders characterized by the severity of their visceral involvement and by their mode of transmission. Read More

Neuropediatrics 2020 Mar 6. Epub 2020 Mar 6.

Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France.

Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in . Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described. Read More

Clin Dysmorphol 2020 Jul;29(3):132-136

Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.

J Craniofac Surg 2020 Jun;31(4):1046-1049

The 15th Department, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Backgrounds: Many aging women with upper lid dermatochalasis pluck their lower lateral eyebrows to combat lateral drooping. The authors present and evaluate outcomes of a modified excision blepharoplasty method performed using a transbrow excision approach instead of infra/suprabrow access to more efficiently correct upper eyelid dermatochalasis.

Methods: The authors conducted a retrospective review of 192 patients who underwent transbrow excision blepharoplasty (TBEB) between 2014 and 2019 at the Plastic Surgery Hospital of Beijing in China. Read More

Case Rep Dermatol Med 2020 12;2020:7480607. Epub 2020 Feb 12.

Division of Hematology/Oncology and Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

Background: Cutis laxa is a rare dermatosis that is inherited or acquired and clinically features loose, wrinkled, and redundant skin with decreased elasticity. This heterogeneous connective tissue disorder may be localized or generalized, with or without internal manifestations. Generalized cutis laxa often has a cephalocaudal progression and is attributed to inflammatory cutaneous eruptions, medications, and infections. Read More

Exp Eye Res 2020 Apr 15;193:107975. Epub 2020 Feb 15.

UCD Clinical Research Centre, School of Medicine, University College Dublin, Ireland.

Lysyl Oxidase Like 1 (LOXL1) is a gene that encodes for the LOXL1 enzyme. This enzyme is required for elastin biogenesis and collagen cross-linking, polymerising tropoelastin monomers into elastin polymers. Its main role is in elastin homeostasis and matrix remodelling during injury, fibrosis and cancer development. Read More

Isr Med Assoc J 2020 02;22(2):127-129

Department of Pathology, Ziv Medical Center, Safed, Israel.

J Craniofac Surg 2020 May/Jun;31(3):766-768

Department of Ophthalmology, Korea University College of Medicine, Seoul, Korea.

The purpose of this study was to evaluate and compare the effectiveness and satisfaction of transconjunctival-approach lower blepharoplasty combined with a pinch skin excision technique between young patients (younger than 60 years of age) and elderly patients (older than 60 years of age) in Korea. The medical records of 69 patients who underwent transconjunctival-approach lower blepharoplasty combined with a pinch skin excision technique from January 2003 to February 2018 were reviewed. Success rate postoperative complications, and degree of satisfaction with the surgical technique were evaluated and statistically compared between the 2 different age groups. Read More

J Inherit Metab Dis 2020 Feb 4. Epub 2020 Feb 4.

Instituto de Biomedicina de Valencia of the CSIC, Valencia, Spain.

The bifunctional homooligomeric enzyme Δ -pyrroline-5-carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were associated with disease in 1998. Two siblings who presented paradoxical hyperammonemia (alleviated by protein), mental disability, short stature, cataracts, cutis laxa, and joint laxity, were found to carry biallelic ALDH18A1 mutations. They showed biochemical indications of decreased ornithine/proline synthesis, agreeing with the role of P5CS in the biosynthesis of these amino acids. Read More

Orphanet J Rare Dis 2020 01 17;15(1):19. Epub 2020 Jan 17.

Clinical Neurosciences, Neurology, University of Helsinki and Helsinki University Hospital, HYKS, Tornisairaala, Neupkl, Haartmaninkatu 4, 00029 HUS, Helsinki, Finland.

Background: Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National Finnish Gelsolin Amyloidosis Registry (FIN-GAR) was founded in 2013 to collect clinical data on patients with AGel amyloidosis, including altogether approximately one third of the Finnish patients. We aim to deepen knowledge on the disease burden and life span of the patients using data from the updated FIN-GAR registry. Read More

Allergy Asthma Clin Immunol 2020 3;16. Epub 2020 Jan 3.

1Department of Dermatology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430022 China.

Background: Cutis laxa is a connective tissue disease characterized by loose, wrinkled, and redundant skin. It is either inherited or acquired. In most cases, acquired cutis laxa is associated with neoplasms, drugs, and autoimmune diseases. Read More

Mol Genet Metab Rep 2020 Mar 2;22:100553. Epub 2020 Jan 2.

Section of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.

Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early at birth or in childhood with poor prognosis, to cutis laxa, exercise-induced dystonia and congenital lactic acidosis. Here we describe the case of a newborn with mutations in ECHS1 that caught our attention after the incidental finding of 3-hydroxy-butyryl\3-hydroxy-isobutyryl\malonylcarnitine (C4OH\C3DC) and tiglylcarnitine (C5:1) on blood spot in the newborn screening (NBS) program. Read More

Dermatol Ther 2020 01 6;33(1):e13200. Epub 2020 Jan 6.

Onkoderma-Clinic for Dermatology, Venereology and Dermatologic Surgery, Sofia, Bulgaria.

We present a 32-year-old man with successful treatment and remission of mycosis fungoides of both axillae in 2016 after PUVA therapy and systemic and local administration of corticosteroids. Subsequently, in 2017, the patient also achieved remission of a T-cell CD 30 positive, ALK-1 negative large-cell lymphoma of a retroperitoneal and inguinal lymph node after chemotherapy and radiotherapy. One year later, in 2018, the patient presented to our clinic with progression of skin lesions in both axillary areas and the appearance of а tumor in the right gluteal region. Read More

Amyloid 2020 Jun 9;27(2):81-88. Epub 2019 Dec 9.

Department of Neurosciences, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

AGel amyloidosis is a dominantly inherited systemic amyloidosis caused by mutations p.D214N or p.D214Y resulting in gelsolin amyloid (AGel) formation. Read More

Eur J Hum Genet 2020 Apr 2;28(4):445-452. Epub 2019 Dec 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.

Connective tissue disorders are a spectrum of diseases that affect the integrity of tissues including skin, vasculature, and joints. They are often caused by variants that disrupt genes encoding components of extracellular matrix (ECM). The fibulin glycoproteins are ECM proteins important for integrity of tissues including dermis, retina, fascia, and vasculature. Read More

Am J Ophthalmol 2020 04 23;212:1-6. Epub 2019 Nov 23.

Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

Purpose: To examine the effect of combined blepharoplasty and Müller muscle-conjunctival resection (MMCR) compared to an upper blepharoplasty on dry eye syndrome.

Design: Prospective, comparative clinical study.

Methods: This is prospective, comparative case series. Read More

Dermatol Ther 2019 11 19;32(6):e13119. Epub 2019 Nov 19.

Department of Dermatology and Venereology, Military Medical Academy, Belgrade, Serbia.

The eyes are an important component of facial aesthetics. They are in the center of an anatomical area of the face very important for rejuvenation procedures, the so-called "periorbital region." The appearance of the eyes therefore decisively influences the perception of the aesthetics and aging of the entire face. Read More

Skin Res Technol 2020 Jan 19;26(1):121-124. Epub 2019 Sep 19.

Dermatology Unit, University of Campania, Naples, Italy.

Background: Surgical blepharoplasty is one of the most common plastic surgical procedures performed worldwide. It is carried out for treating both aesthetic and functional indications. As with any surgical procedures, the technique is not free from complications. Read More

J Cutan Pathol 2020 Feb 30;47(2):146-149. Epub 2019 Aug 30.

Department of Dermatology, N.H.L. Medical College, Ahmedabad, Gujarat, India.

Sweet syndrome is rare in the pediatric population and usually responds well to treatment, resolving without sequelae. Marshall syndrome is a rare pediatric skin disease characterized by loss of elastic tissue (cutis laxa) secondary to acquired, localized neutrophilic dermatitis without any internal organ involvement. Only few cases of Marshall syndrome (acquired cutis laxa type II) have been reported. Read More

Am J Med Genet A 2019 10 12;179(10):2039-2042. Epub 2019 Aug 12.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Lenz-Majewski syndrome (LMS) is an extremely rare type of cutis laxa caused by dominant mutations in PTDSS1 gene. We report an Egyptian patient who presented with cutis laxa, brachydactyly, and progeroid features. LMS syndrome was suspected and a previously reported de novo heterozygous missense mutation (c. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Aug;36(8):785-788

Medical Genetics Institute of Henan Province, Henan Provincial People' s Hospital, Zhengzhou, Henan 450003, China.

Objective: To carry out genetic diagnosis for a pedigree affected with cutis laxa.

Methods: Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing. Read More

Turk Pediatri Ars 2019 11;54(2):119-124. Epub 2019 Jul 11.

Department of Pediatric Cardiology, Süleymaniye Maternity Training and Research Hospital, İstanbul, Turkey.

Cutis laxa tip1b is a rare autosomal recessive disorder caused by FBLN 4 mutation and primarily characterized by vascular anomalies. Herein, we present five patients who are the members of the same family. The primary cardiac findings of these patients were giant aortic aneurysms. Read More

Clin Genet 2019 11 6;96(5):456-460. Epub 2019 Aug 6.

Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.

Intellectual disability (ID) varies in severity and is often associated with a variety of other clinical features. In consanguineous populations ID is usually inherited in an autosomal recessive fashion. Many genes are known for the condition, but many more are yet to be identified. Read More

Genes (Basel) 2019 07 12;10(7). Epub 2019 Jul 12.

Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.

Occipital horn syndrome (OHS) is a rare connective tissue disorder caused by pathogenic variants in ATP7A, encoding a copper transporter. The main clinical features, including cutis laxa, bony exostoses, and bladder diverticula are attributed to a decreased activity of lysyl oxidase (LOX), a cupro-enzyme involved in collagen crosslinking. The absence of large case series and natural history studies precludes efficient diagnosis and management of OHS patients. Read More

Front Cell Dev Biol 2019 11;7:93. Epub 2019 Jun 11.

Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.

Exocytic and endocytic compartments each have their own unique luminal ion and pH environment that is important for their normal functioning. A failure to maintain this environment - the loss of homeostasis - is not uncommon. In the worst case, all the main Golgi functions, including glycosylation, membrane trafficking and protein sorting, can be perturbed. Read More

J Craniofac Surg 2019 Nov-Dec;30(8):2533-2535

Department of Ophthalmology, Meir Medical Center, Kfar Saba.

Thorough evaluation of the upper eyelid is essential for diagnosis and management planning in blepharoptosis. In a previous study, our group described a novel force gauge for direct assessment of upper lid force in healthy subjects. In this study, the authors apply the same technique for measuring muscle forces in ptotic eyelids. Read More

Aesthetic Plast Surg 2019 10 19;43(5):1320-1325. Epub 2019 Jun 19.

Private Practice in Curitiba (Clínica Médica Athena), Curitiba, PR, Brazil.

Introduction: Periocular rhytids and dermatochalasis are common and striking signs of facial aging. The CO laser technique described herein addresses Hester classification type I, aging at the level of the lower eyelid, focus on the treatment of the dermatochalasis.

Materials And Methods: In this retrospective study of patients undergoing treatment at our clinic between 2000 and 2018, 263 were classified as Hester I and CO laser therapy was the treatment to improve the local rhytids. Read More

Eur J Ophthalmol 2019 Jun 17:1120672119857501. Epub 2019 Jun 17.

Department of Ophthalmology, Izmir Katip Celebi University Ataturk Training and Research Hospital, Izmir, Turkey.

Objective: To evaluate the changes of visual acuity, contrast sensitivity, astigmatism, and higher order aberrations after blepharoplasty in patients with dermatochalasis.

Methods: Two hundred six eyelids of 103 patients with dermatochalasis were prospectively studied. Visual acuity, contrast sensitivity, corneal topography, astigmatism degree, and higher order aberrations were examined and recorded before and at 1 month after upper eyelid blepharoplasty. Read More

Am J Ophthalmol Case Rep 2019 Sep 30;15:100477. Epub 2019 May 30.

Cornell University, Department of Ophthalmology, 1305 York Ave at East 70th St, New York, NY, 1002, USA.

Purpose: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa.

Observations: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. Read More

DNA Cell Biol 2019 Jul 12;38(7):670-677. Epub 2019 Jun 12.

1 Institute of Special Animals and Plant Sciences, Chinese Academy of Agricultural Sciences, Changchun, China.

Cutis laxa represents a heterogeneous group of rare, inherited, or acquired connective tissue disorders with the common feature of loose and redundant skin with decreased elasticity. The skin of affected deer showed abnormal collagen fiber morphology. To identify the differentially expressed genes of the unusual localized skin laxity in sika deer, we performed transcriptome analysis in the affected and control sika deer. Read More

Mol Genet Genomic Med 2019 07 21;7(7):e00735. Epub 2019 May 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

Background: Cutis laxa (CL) is a group of rare connective tissue disorders mainly characterized by wrinkled, redundant, inelastic, and sagging skin. Besides skin anomalies, in most CL forms multiple organs are involved, leading to severe multisystem disorders involving skeletal, cardiovascular, pulmonary, and central nervous systems. CL might be challenging to diagnose because of its different inheritance patterns, extensive phenotypic variability, and genetic heterogeneity. Read More

Cells 2019 05 14;8(5). Epub 2019 May 14.

Department of Bioscience Technology, Chung Yuan Christian University, Chung-Li 32023, Taiwan.

Aging is a natural process that internal gene control and external stimuli mediate. Clinical data pointed out that homozygotic or heterozygotic mutation in the pyrroline-5-carboxylate reductase 1 () gene in humans caused cutis laxa (ARCL) disease, with progeroid appearance, lax and wrinkled skin, joint laxity, osteopenia, and mental retardation phenotypes. In this study, we aimed to generate knockout (KO) zebrafish and carried out biochemical characterizations and behavior analyses. Read More

Indian J Pediatr 2019 11 4;86(11):1058. Epub 2019 May 4.

Department of Neonatology, JIPMER, Puducherry, India.

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

Individuals affected with autosomal recessive cutis laxa type 2B and 3 usually show translucent skin with visible veins and abnormal elastic fibers, intrauterine and/or postnatal growth restriction and a typical triangular facial gestalt. Here we describe three unrelated individuals in whom such a cutis laxa syndrome was suspected, especially after electron microscopy revealed immature and less dense dermal elastic fibers in one of them. However, one of these children also displayed optic atrophy and two hypogammaglobulinemia. Read More

Aesthetic Plast Surg 2019 08 29;43(4):948-955. Epub 2019 Mar 29.

Department of Plastic, Reconstructive, Aesthetic and Maxillofacial Surgery, Henri Mondor Hospital, 51 Avenue du Maréchal de Lattre de Tassigny, 94010, Créteil, France.

Background: The Dermo Ablation Surgery (DAS) Medical® (Technolux, Italy) device is a plasma blade which induces a plasma voltaic arc causing a retraction in the epidermis and superficial dermis.

Objective: The aim of our study is to prove the efficacy and safety of the DAS Medical® device in dermatochalasis size reduction.

Methods: Our prospective study included 25 adult patients presenting with upper eyelid dermatochalasis undergoing a two-session treatment protocol with the DAS Medical® device (with a month treatment-free interval). Read More

Am J Respir Crit Care Med 2019 09;200(6):677-690

Channing Division of Network Medicine and.

Chronic obstructive pulmonary disease (COPD) is a common and progressive disease that is influenced by both genetic and environmental factors. For many years, knowledge of the genetic basis of COPD was limited to Mendelian syndromes, such as alpha-1 antitrypsin deficiency and cutis laxa, caused by rare genetic variants. Over the past decade, the proliferation of genome-wide association studies, the accessibility of whole-genome sequencing, and the development of novel methods for analyzing genetic variation data have led to a substantial increase in the understanding of genetic variants that play a role in COPD susceptibility and COPD-related phenotypes. Read More