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Neonatal skin disorders

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
(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
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...
2016: Journal of Medical Case Reports
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
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...
September 4, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
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
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...
June 16, 2016: JIMD Reports
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
Flávia Pereira Reginatto, Damie De Villa, Tania Ferreira Cestari
The neonatal period comprises the first four weeks of life. It is a period of adaptation where the skin often presents several changes: transient lesions, resulting from a physiological response, others as a consequence of transient diseases and some as markers of severe disorders. The presence of pustules in the skin of the newborn is always a reason for the family and for the assisting doctor to be worried, since the newborn is especially vulnerable to bacterial, viral or fungal infection. However, the majority of neonatal skin pustules is not infectious, comprising the benign neonatal pustulosis...
April 2016: Anais Brasileiros de Dermatologia
F Al-Saif, A Elisa, A Al-Homidy, A Al-Ageel, M Al-Mubarak
BACKGROUND AND OBJECTIVES: Pemphigoid gestationis (PG) is a rare autoimmune-mediated blistering disease that mainly affects pregnant women in their 2nd or 3rd trimester and immediate postpartum period. In addition to the clinical assessment, the diagnosis of PG is usually confirmed by histological and immunological studies. PG usually flares up at the time of delivery and spontaneously improves postpartum. Prompt recognition and appropriate management may reduce morbidity associated with this disorder...
August 2016: Journal of Reproductive Immunology
Taraka R Donti, Patrick R Blackburn, Paldeep S Atwal
Holocarboxylase synthetase deficiency is an autosomal recessive disorder of biotin metabolism resulting in multiple carboxylase deficiency. The typical presentation described in the medical literature is of neonatal onset within hours to weeks of birth with emesis, hypotonia, lethargy, seizures, metabolic ketolactic acidosis, hyperammonemia, developmental delay, skin rash and alopecia. The condition is screened for by newborn screening (NBS) tandem mass spectroscopy by elevated hydroxypentanoylcarnitine on dried blood spots...
June 2016: Molecular Genetics and Metabolism Reports
Ozkan Ilhan, Esra A Ozer, Senem A Ozdemir, Sinem Akbay, Seyma Memur, Berat Kanar, Melek Akar, Sumer Sutcuoglu, Mustafa M Tatli
Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly...
April 2016: Archivos Argentinos de Pediatría
Esther García-Rodríguez, José Bernabeu-Wittel, Gemma Calderón-López, Antonio Pavón-Delgado
Langerhans cell histiocytosis is a systemic disease associated with the proliferation of this type of cells in tissues. Its prevalence is estimated at 1-9/100 000. Bone is the most frequently affected organ, followed by the skin, lymph nodes, haematopoietic system, pituitary gland, lungs and liver. In the majority of cases, onset occurs during childhood, with peak between one and three years of age, and poor prognosis before two years of age. The haematological forms (pancytopenia) are usually aggressive in infants...
April 2016: Archivos Argentinos de Pediatría
Walter L Miller
Vitamin D, an inactive secosteroid pro-hormone, is produced by the action of ultraviolet light on 7-dehydrocholesterol in the skin. The active hormone, 1,25(OH)2D is produced by sequential 25-hydroxylation in the liver, principally by CYP2R1, and 1α-hydroxylation in the kidney by CYP27B1. Mutations in CYP27B1 cause 1α-hydroxylase deficiency, also known as vitamin D dependent rickets type I or hereditary pseudo-vitamin D deficient rickets; very rare mutations in CYP2R1 can cause 25-hydroxylase deficiency. Both deficiencies cause hypocalcemia, secondary hyperparathyroidism, severe rickets in infancy, and low serum concentrations of 1,25(OH)2D; both disorders respond to hormonal replacement therapy with calcitriol...
April 6, 2016: Journal of Steroid Biochemistry and Molecular Biology
Ariana Kariminejad, Siavash Ghaderi-Sohi, Hamid Hossein-Nejad Nedai, Vahid Varasteh, Ali-Reza Moslemi, Homa Tajsharghi
BACKGROUND: Lethal multiple pterygium syndrome (LMPS, OMIM 253290), is a fatal disorder associated with anomalies of the skin, muscles and skeleton. It is characterised by prenatal growth failure with pterygium present in multiple areas and akinesia, leading to muscle weakness and severe arthrogryposis. Foetal hydrops with cystic hygroma develops in affected foetuses with LMPS. This study aimed to uncover the aetiology of LMPS in a family with two affected foetuses. METHODS AND RESULTS: Whole exome sequencing studies have identified novel compound heterozygous mutations in RYR1 in two affected foetuses with pterygium, severe arthrogryposis and foetal hydrops with cystic hygroma, characteristic features compatible with LMPS...
2016: BMC Musculoskeletal Disorders
Ozkan Ilhan, Esra A Ozer, Senem A Ozdemir, Sinem Akbay, Seyma Memur, Berat Kanar, Mustafa M Tatli
Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, platelet anomalies, congenital heart defects and severe failure to thrive are sometimes associated with this syndrome...
February 2016: Archivos Argentinos de Pediatría
Yousif Nijim, Youssef Awni, Amin Adawi, Abdalla Bowirrat
Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3-p13.2).Donohue syndrome is associated with a fatal congenital form of dwarfism with features of intrauterine and postnatal growth retardation, exaggerated hyperglycemia with hyperinsulinism and dysmorphic abnormalities.We present a case of DS owing to the rarity of this syndrome (1 case in every million births)...
February 2016: Medicine (Baltimore)
Mayumi Wada, Wataru Nishie, Hideyuki Ujiie, Kentaro Izumi, Hiroaki Iwata, Ken Natsuga, Hideki Nakamura, Yoshimasa Kitagawa, Hiroshi Shimizu
In bullous pemphigoid, the common autoimmune blistering disorder, IgG autoantibodies target various epitopes on hemidesmosomal transmembrane collagen XVII (COL17)/BP180. Antibodies (Abs) targeting the extracellular noncollagenous 16th A domain of COL17 may be pathogenic; however, the pathogenic roles of Abs targeting non-noncollagenous 16th A regions are poorly understood. In this study using a pathogenic and a nonpathogenic monoclonal antibody (mAb) targeting the noncollagenous 16th A domain (mAb TS39-3) and the C-terminus domain (mAb C17-C1), respectively, we show that endocytosis of immune complexes after binding of Abs to cell surface COL17 is a key phenomenon that induces skin fragility...
May 2016: Journal of Investigative Dermatology
Mariza Miranda Theme Filha, Susan Ayers, Silvana Granado Nogueira da Gama, Maria do Carmo Leal
BACKGROUND: Depression is one of the most common postpartum mental disorders. Many sociodemographic and individuals risk factors are associated with maternal depression but the impact of high levels of birth intervention is unclear. The Brazilian context is characterized by excessive intervention and frequent non-compliance with recommended obstetric protocols. This study therefore examined the impact of sociodemographic, individual, and obstetric risk factors in postpartum depression...
April 2016: Journal of Affective Disorders
Seiichi Tomotaki, Jun Shibasaki, Yuki Yunoki, Makoto Kishigami, Tomoyuki Imagawa, Noriko Aida, Katsuaki Toyoshima, Yasufumi Itani
BACKGROUND: Incontinentia pigmenti is a rare neurocutaneous disorder that may result in neurological symptoms in addition to its characteristic skin rashes. The pathogenesis of central nervous system disorders in incontinentia pigmenti remains unclear, but it has been suggested that vascular abnormalities and inflammatory processes may play important roles. Notably, there is no established treatment for central nervous system disorders in incontinentia pigmenti. We report a neonate with acute neurological symptoms of incontinentia pigmenti who was effectively treated with corticosteroid therapy...
March 2016: Pediatric Neurology
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