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Neonatal skin disorders

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https://www.readbyqxmd.com/read/28935253/effects-of-nerolidol-and-limonene-on-stratum-corneum-membranes-a-probe-epr-and-fluorescence-spectroscopy-study
#1
Sebastião Antonio Mendanha, Cássia Alessandra Marquezin, Amando Siuiti Ito, Antonio Alonso
The sesquiterpene nerolidol and the monoterpene limonene are potent skin-permeation enhancers that have also been shown to have antitumor, antibacterial, antifungal and antiparasitic activities. Because terpenes are membrane-active compounds, we used electron paramagnetic resonance (EPR) spectroscopy of three membrane spin labels combined with the fluorescence spectroscopy of three lipid probes to study the interactions of these terpenes with stratum corneum (SC) intercellular membranes. An experimental apparatus was developed to assess the lipid fluidity of hydrated SC membranes via the fluorescence anisotropy of extrinsic membrane probes...
September 18, 2017: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/28899405/neonatal-hemolytic-anemia-does-not-always-indicate-thalassemia-a-case-report
#2
Arwa A Al-Harazi, Bilguis M Al-Eryani, Butheinah A Al-Sharafi
BACKGROUND: Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis, erythrodontia and reddish-colored urine are often present, as well as hemolytic anemia accompanied by hepatosplenomegaly...
September 12, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28884798/neonatal-skin-care-what-should-we-do-a-four-week-follow-up-randomized-controlled-trial-at-zagazig-university-hospitals
#3
Mohamed Amer, Nagwa Diab, Mohamed Soliman, Amin Amer
INTRODUCTION: Taking care of newborn skin is necessary to avoid skin infections. The normal daily exposure to external factors affects the skin negatively. Skin hygiene and proper skin cleansing as well as protection of the infant skin barrier are essential to maintain barrier function and overall infant health. AIM: The aim of this work is to assess the neonatal skin care effectiveness in promotion of normal skin development and protection of the optimal skin function by avoiding the different neonatal skin disorders which cause skin infection...
September 7, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28871316/-red-scaly-baby-a-pediatric-dermatological-emergency-clinical-and-differential-diagnoses-of-neonatal-erythroderma
#4
REVIEW
H Ott, J Grothaus
Neonatal, ichthyosiform erythroderma is rare and may be associated with primarily cutaneous disorders as well as with a broad spectrum of potentially severe underlying diseases. Neonatal erythroderma represents a pediatric dermatological emergency requiring a swift diagnosis and effective, interdisciplinary management. This review summarizes both primary skin diseases and systemic illnesses that are known to elicit erythroderma in neonates and young infants.
September 4, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28816422/dolichol-kinase-deficiency-dolk-cdg-two-new-cases-and-expansion-of-phenotype
#5
Eric T Rush, Craig V Baker, William B Rizzo
Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28770119/first-report-on-fetal-cerebral-polyglucosan-bodies-in-mucopolysaccharidosis-type-vii
#6
Hazim Kadhim, Valérie Segers, Catheline Vilain, Julie Désir, Nicky D'Haene
We report on the detection of discordant inclusions in the brain of a 25-week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS-VII was corroborated by lysosomal beta-glucuronidase-deficiency detected in fetal blood and fetal skin-fibroblasts and by the presence of a heterozygous pathogenic variant in the GUSB gene in the mother...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28690898/delayed-treatment-response-in-a-neonate-with-multisystem-langerhans-cell-histiocytosis-case-report-and-review-of-literature
#7
Amitabh Singh, Anirban Mandal, Lavleen Singh, Sataroopa Mishra, Ankita Patel
Langerhans cell histiocytosis (LCH) is a rare proliferative disorder of the Langerhans cells, which are part of the mononuclear phagocytic system. The disorder varies in terms of the extent of the disease, its natural course and patient outcomes. While skin rashes are a common presentation of neonatal LCH, other systems or organs may also be involved. Delays in the diagnosis of neonatal LCH may occur due to its non-specific presentation and a lack of awareness of the condition among doctors. We report a two-month-old male neonate who presented to the Chacha Nehru Bal Chikitsalya hospital, New Delhi, India, in 2016 after the onset of pulmonary symptoms...
May 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#8
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28349448/neonatal-onset-hereditary-coproporphyria-a-new-variant-of-hereditary-coproporphyria
#9
Kosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara
Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another mutation, and a marked increase in harderoporphyrin is observed...
March 28, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28046205/dietary-advice-interventions-in-pregnancy-for-preventing-gestational-diabetes-mellitus
#10
REVIEW
Joanna Tieu, Emily Shepherd, Philippa Middleton, Caroline A Crowther
BACKGROUND: Gestational diabetes mellitus (GDM) is a form of diabetes occurring during pregnancy which can result in short- and long-term adverse outcomes for women and babies. With an increasing prevalence worldwide, there is a need to assess strategies, including dietary advice interventions, that might prevent GDM. OBJECTIVES: To assess the effects of dietary advice interventions for preventing GDM and associated adverse health outcomes for women and their babies...
January 3, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28041661/constant-light-exposure-impairs-immune-tolerance-development-in-mice
#11
COMPARATIVE STUDY
Hiromi Mizutani, Risa Tamagawa-Mineoka, Yoichi Minami, Kazuhiro Yagita, Norito Katoh
BACKGROUND: An intrinsic daily physiological rhythm called circadian rhythm has been indicated to affect the immune system and its related diseases. Immune tolerance development is closely associated with the onset of immunological disorders. However, the effect of circadian rhythm in the mechanisms of immune tolerance development has not yet been fully understood. OBJECTIVE: The purpose of this study was to investigate the effects of circadian rhythm disruption on the development of immune tolerance by the perturbation of light environment, using a mouse model of neonatally induced cutaneous tolerance...
April 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27977554/neonatal-cutaneous-invasive-aspergillosis-accompanied-by-hemophagocytic-lymphohistocytosis
#12
Zhuanggui Chen, Lifen Yang, Yating Li, Li Pan, Meirong Li, Abdullah M S Al-Hatmi, Jacques F Meis, Wei Lai, Peiying Feng
We describe a 6-week-old female infant with cutaneous invasive aspergillosis accompanied with hemophagocytic lymphohistocytosis. Aspergillus flavus was isolated from biopsies of necrotic skin lesions on the forehead and scalp; morphologic identification was confirmed by molecular analysis. In vitro antifungal susceptibility testing showed that amphotericin B and triazoles had potent activity. The patient responded well to treatment with intravenous amphotericin B combined with oral posaconazole and local wound care...
April 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27922246/neonatal-lupus-erythematosus-report-of-a-case-with-cutaneous-hematological-and-hepatobiliary-findings
#13
Andaç Salman, Merve Hatun Sarıçam, Ayşe Deniz Yücelten, Cuyan Demirkesen, Tülin Ergun
Neonatal lupus erythematosus is an autoimmune disorder mainly affecting the heart and skin. It is the most common cause of congenital heart block. In addition, hematological, hepatobiliary and neurological involvement may occur. Herein, we report a 23-day-old infant presented with annular, erythematous, and scaly and atrophic lesions on the face and trunk. Based on the clinical, laboratory and histopathological findings, she was diagnosed as neonatal lupus erythematosus. Neonatal lupus eryhtematosus should be considered in infants presenting with annular skin lesions, and we present this case to highlight the value of high index of clinical suspicion in diagnosis...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27906097/a-10-year-old-child-presenting-with-syndromic-paucity-of-bile-ducts-alagille-syndrome-a-case-report
#14
Girish Kumar Pati, Ayaskanta Singh, Preetam Nath, Jimmy Narayan, Pradeep Kumar Padhi, Prasanta Kumar Parida, Kaumudee Pattnaik, Chittaranjan Panda, Shivaram Prasad Singh
BACKGROUND: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case...
November 30, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27891590/bi-allelic-iars-mutations-in-a-child-with-intra-uterine-growth-retardation-neonatal-cholestasis-and-mild-developmental-delay
#15
N Orenstein, K Weiss, S N Oprescu, R Shapira, D Kidron, L Vanagaite-Basel, A Antonellis, M Muenke
Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper-elasticity, and hypervitaminosis D...
June 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27889735/a-novel-protein-c-mutation-causing-neonatal-purpura-fulminans
#16
Usha Devi R, Mangala Bharathi S, Nikesh Kawankar
BACKGROUND: Neonatal purpura fulminans due to congenital protein C deficiency is a rare disorder. CASE CHARACTERISTICS: A four-day-old neonate presented with multiple necrotic skin lesions with abnormal coagulation profile. INTERVENTION AND OUTCOME: Skin lesions responded to repeated plasma transfusions but the neonate developed bilateral retinal detachment. A novel homozygous PROC gene mutation was noted in the neonate. MESSAGE: Molecular diagnosis and prenatal counseling in neonatal purpura fulminans are vital considering the poor outcome...
November 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27878785/lesions-requiring-wound-management-in-a-central-tertiary-neonatal-intensive-care-unit
#17
Angéla Meszes, Gyula Tálosi, Krisztina Máder, Hajnalka Orvos, Lajos Kemény, Zsanett Renáta Csoma
BACKGROUND: Most of the skin disorders that occur in neonatal intensive care units are due in part to the immaturity and vulnerability of the neonatal skin. Various iatrogenic diagnostic and therapeutic procedures are also conducive to iatrogenic damage. This study was to review the neonates admitted to our neonatal intensive care unit who needed wound management, and to assess the most common skin injuries and wounds, and their aetiology. METHODS: Data were extracted from medical records of neonates who needed wound management in our Neonatal Intensive Care Unit between January 31, 2012 and January 31, 2013...
November 23, 2016: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/27875703/prevalence-and-characterization-of-neonatal-skin-disorders-in-the-first-72h-of-life
#18
Flávia Pereira Reginatto, Damie DeVilla, Fernanda M Muller, Juliano Peruzzo, Letícia P Peres, Raquel B Steglich, Tania F Cestari
OBJECTIVE: To determine the prevalence of neonatal dermatological findings and analyze whether there is an association between these findings and neonatal and pregnancy characteristics and seasonality. METHODS: Newborns from three maternity hospitals in a Brazilian capital city were randomly selected to undergo dermatological assessment by dermatologists. RESULTS: 2938 neonates aged up to three days of life were randomly selected, of whom 309 were excluded due to Intensive Care Unit admission...
May 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/27777746/dermatosparaxis-in-two-limousin-calves
#19
Catherine I Carty, Alison M Lee, Nathan A E Wienandt, Edward L Stevens, Derron A Alves, John A Browne, Jill Bryan, Eoin G Ryan, Joseph P Cassidy
BACKGROUND: An unusual presentation of skin disease was identified in two related neonatal Pedigree Limousin calves presented to University Veterinary Hospital, University College Dublin, following detailed post mortem examination a diagnosis of dermatosparaxis was made. Dermatosparaxis in animals or Ehlers Danlos Syndrome, which is the analogous condition seen in humans, is a connective tissue disorder characterised by extreme skin fragility. To the authors' knowledge this is the first report of such a diagnosis in the Limousin breed and the features of this lethal phenotype were severe in comparison to previous reports of the condition...
2016: Irish Veterinary Journal
https://www.readbyqxmd.com/read/27742148/pressure-ulcers-in-maturing-skin-a-clinical-perspective
#20
Anna-Barbara Schlüer
While the problem of Pressure Ulcers (PU) in adults has received a great deal of attention, far less is known about PUs in neonates and children. The overall health status of children is generally better and multi-morbidity is limited to a small percentage of patients, like very low term neonates (born before 32 weeks of gestation age), newborns with congenital abnormalities, genetic disorders, perinatal distress syndrome or children with a limited immunity. Survival rates of both critically and chronically ill neonates, infants and children have improved dramatically in recent years, introducing new challenges for medical and nursing care...
October 8, 2016: Journal of Tissue Viability
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