keyword
MENU ▼
Read by QxMD icon Read
search

Neonatal skin disorders

keyword
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
https://www.readbyqxmd.com/read/27733283/global-regional-and-national-disability-adjusted-life-years-dalys-for-315-diseases-and-injuries-and-healthy-life-expectancy-hale-1990-2015-a-systematic-analysis-for-the-global-burden-of-disease-study-2015
#14
COMMENT
(no author information available yet)
BACKGROUND: Healthy life expectancy (HALE) and disability-adjusted life-years (DALYs) provide summary measures of health across geographies and time that can inform assessments of epidemiological patterns and health system performance, help to prioritise investments in research and development, and monitor progress toward the Sustainable Development Goals (SDGs). We aimed to provide updated HALE and DALYs for geographies worldwide and evaluate how disease burden changes with development...
October 8, 2016: Lancet
https://www.readbyqxmd.com/read/27633379/hirschsprung-s-disease-associated-with-alopecia-universalis-congenita-a-case-report
#15
Sushma Malik, Mani Singhal, Shruti Sudhir Jadhav, Charusheela Sujit Korday, Chitra Shivanand Nayak
BACKGROUND: Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down's syndrome, Waardenburg syndrome, congenital central hypoventilation, or cartilage-hair hypoplasia) or with a spectrum of congenital anomalies involving neurological, cardiovascular, or urological systems or with sensorineural anomalies...
September 15, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27595870/iatrogenic-skin-disorders-and-related-factors-in-newborn-infants
#16
Zsanett Renáta Csoma, Angéla Meszes, Rita Ábrahám, Lajos Kemény, Gyula Tálosi, Péter Doró
BACKGROUND/OBJECTIVES: Recent technological advances and diagnostic and therapeutic innovations have resulted in an impressive improvement in the survival of newborn infants requiring intensive care. Consequently, with the use of modern invasive diagnostic and therapeutic procedures, the incidence of iatrogenic events has also increased. The aim of this study was to assess various iatrogenic complications in neonates requiring intensive care and determine possible contributing factors to the injuries...
September 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27594612/familial-aplasia-cutis-congenita-associated-with-mega-cisterna-magna
#17
Eun Hye Lee, Tae Sung Park, Yong-Sung Choi, Eun-Hae Cho
Aplasia cutis congenita (ACC; MIM 107600) is a congenital skin disorder that manifests as localized absence of skin. Here we report a case of familial ACC and mega-cisterna magna. A female neonate was born with skin defects on the scalp. Brain magnetic resonance imaging demonstrated retrocerebellar space widening suggesting mega-cisterna magna. Her father also had a skin defect on the scalp at birth, and brain computed tomography of the father showed a cystic lesion over the right occipital lobe, similar to the patient's brain imaging...
October 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27435956/muckle-wells-syndrome-a-case-report-with-an-nlrp3-t348m-mutation
#18
Elena Naz Villalba, Enrique Gomez de la Fuente, Dolores Caro Gutierrez, Fernando Pinedo Moraleda, Julio Yanguela Rodilla, Diana Mazagatos Angulo, Jose Luis López Estebaranz
Autoinflammatory syndromes are a recently described group of conditions caused by mutations in multiple genes that code for proteins of the innate immune system. Cryopyrin-associated periodic syndromes are autoinflammatory diseases comprising three clinically overlapping disorders: familial cold urticaria syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. MWS is characterized by a moderate phenotype with fever, rash, arthralgia, conjunctivitis, sensorineural deafness, and potentially life-threatening amyloidosis...
September 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27306203/severe-neonatal-presentation-of-mitochondrial-citrate-carrier-slc25a1-deficiency
#19
Amanda Smith, Skye McBride, Julien L Marcadier, Jean Michaud, Osama Y Al-Dirbashi, Jeremy Schwartzentruber, Chandree L Beaulieu, Sherri L Katz, Jacek Majewski, Dennis E Bulman, Michael T Geraghty, Mary-Ellen Harper, Pranesh Chakraborty, Matthew A Lines
Mutations of the mitochondrial citrate carrier (CIC) SLC25A1 cause combined D-2- and L-2-hydroxyglutaric aciduria (DL-2HGA; OMIM #615182), a neurometabolic disorder characterized by developmental delay, hypotonia, and seizures. Here, we describe the female child of consanguineous parents who presented neonatally with lactic acidosis, periventricular frontal lobe cysts, facial dysmorphism, recurrent apneic episodes, and deficient complex IV (cytochrome c oxidase) activity in skeletal muscle. Exome sequencing revealed a homozygous SLC25A1 missense mutation [NM_005984...
2016: JIMD Reports
https://www.readbyqxmd.com/read/27225493/downregulation-of-insulin-like-growth-factor-1-via-nitric-oxide-production-in-a-hypergalactosemic-model-of-neonate-skin-fibroblast-cultures
#20
Gursev S Dhaunsi, Mazen Al-Essa
BACKGROUND: Galactosemia is a severe metabolic disorder known to cause hepatosplenomegaly, jaundice and cataracts in neonates, and many patients develop later complications such as mental retardation, disorders of motor function or speech, and hypergonadotrophic hypogonadism. The pathogenetic mechanisms of classical galactosemia are unclear; however, nitric oxide (NO) has been suggested to play a role. OBJECTIVES: Insulin-like growth factor-1 (IGF-1) is important for the growth and development of children, and the aim of this study was to examine the association of NO production with IGF-1 gene expression under galactosemic conditions...
2016: Neonatology
keyword
keyword
103527
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"