ABSTRACT
Kindler syndrome (KS) is an inherited dermatosis linked to the FERMT1 gene, and is characterized clinically by trauma-induced acral skin blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. We report a case of KS in a 7-year-old Indian girl with severe mucosal involvement of the oral cavity and genitourinary tract. Mutation analysis in the girl showed a homozygous FERMT1 mutation, c.862C>T, p.R288*. The clinical manifestations in patients with KS show significant inter individual variation, even with the same type of mutations and within members of the same family. Our case highlights the role of environmental modifiers in regulating the clinical features of KS.
Subject(s)
Epidermolysis Bullosa/pathology , Female Urogenital Diseases/pathology , Mouth Diseases/pathology , Mucous Membrane/pathology , Child , Female , Humans , Photosensitivity Disorders/pathologyABSTRACT
To enable consistency of investigation and the establishment of best practice standards, consensus guidelines were formulated previously by the UK National Poisons Information Service and the Association for Clinical Biochemistry. These joint guidelines have now been updated to reflect current best practice. The types of laboratory investigation required for poisoned patients are categorized as either (a) essential common laboratory investigations or (b) specific toxicological assays, and also as either (i) common or (ii) specialist or infrequent. Tests in categories (a) and (bi) should be available 24 hours per day, with a maximum turnaround time of 2 h. For the specialist assays, i.e. category (bii), availability and turnaround times have been specified individually. The basis for selection of these times has been clinical utility. The adoption of these guidelines, along with the use of the National Poisons Information Service (0844 8920111) and its online poisons information resource TOXBASE(®) (www.toxbase.org) enable the poisoned patient to receive appropriate, 'best practice' investigations according to their clinical needs and will avoid unnecessary investigations.
Subject(s)
Blood Chemical Analysis/methods , Poisoning/blood , Hospitals , Humans , Poisoning/diagnosis , Research Report , United KingdomSubject(s)
Facial Dermatoses/diagnosis , Lupus Erythematosus, Cutaneous/diagnosis , Scalp Dermatoses/diagnosis , Antibodies, Antinuclear/blood , Biomarkers/blood , Facial Dermatoses/pathology , Humans , Infant , Lupus Erythematosus, Cutaneous/pathology , Male , Ribonucleoproteins/blood , Scalp Dermatoses/pathologyABSTRACT
Several 5-substituted alkoxy 20(S)-camptothecin analogues having A- and B-ring substituents were prepared via semi-synthesis. Most of these compounds were found to exhibit potent anti-cancer activity based on their in vitro cytotoxicity data obtained against human tumor cell lines.
