ABSTRACT
Younger children in particular are at risk of becoming victims of dog attacks due to their small size. Such a biting incident can fulfil various criminal offences. In order to be able to satisfy possible legal claims, the injuries should be documented by forensic medicine and thus be legally binding. Therefore, close cooperation between the treating surgeons and forensic experts is recommended. A retrospective analysis of the cases of dog bite injuries in children and adults treated by clinical forensic medicine at the University Medical Center Rostock was carried out under various aspects. Adult casualties were predominantly injured on the lower extremities. The children examined were predominantly bitten on the head, neck and face region as well as the upper extremities. Injury severity ranged from skin redness to severe substance defects with loss of body structures. The biting dog was known in about half of the cases. In order to avoid dog bites in children, parents as well as children should be trained in dealing with dogs.
Subject(s)
Bites and Stings , Facial Injuries , Animals , Dogs , Retrospective Studies , Bites and Stings/therapy , RecordsABSTRACT
Mongolian Spots (MS) are the most common birthmarks in newborn children. The condition presents as greenish-bluish to greyish macules, particularly in the lumbosacral area. The incidents of MS can vary in different ethnic groups and normally fade in early childhood. MS can be misinterpreted as hematomas because of the color and the predilection site. This paper discusses the case of a two-month old female admitted to hospital under suspicion of child abuse. The clinical forensic examination of the infant and her two older sisters found the children were in good health and did not show signs of abuse, despite the infant presenting with multiple and extensive greyish-blue macules. Thirteen months later, a welfare officer requested another forensic examination on the now 15-month-old child after noticing greyish-blue macules. Following a second examination, no evidence of abuse was found. This case illustrates the issue of MS as a differential diagnosis of hematomas.
Subject(s)
Mongolian Spot/diagnosis , Child Abuse/diagnosis , Diagnosis, Differential , Female , Hematoma/diagnosis , Humans , InfantABSTRACT
A 49-year old man was found dead at home next to a glass containing a dried, white, crystalline substance and near a bag containing pills with the imprint XANAX, the trade name of alprazolam. A comprehensive screening of material collected during the autopsy revealed the presence of etizolam and caffeine in lethal concentrations (0.77 µg/mL and 190 µg/mL) but no trace of alprazolam. Benzodiazepine analogue etizolam is rarely prescribed in Germany, and as a result there are not many reports about fatal cases. It has anxiolytic, hypnotic, sedative and muscle-relaxant properties and is used for the short-term treatment of anxiety and panic attacks. The purine alkaloid caffeine, conversely, is the most widely used central nervous system stimulant. The following report outlines potentially the first reported case of a lethal combination of the downer etizolam and the upper caffeine in medical literature.
Subject(s)
Caffeine/poisoning , Diazepam/analogs & derivatives , Alprazolam , Counterfeit Drugs , Diazepam/poisoning , Diazepam/urine , Fatal Outcome , Humans , Male , Middle AgedABSTRACT
Costello syndrome (CS) is caused by heterozygous germline HRAS mutations. Most patients share the HRAS mutation c.34G>A (p.Gly12Ser) associated with the typical, relatively homogeneous phenotype. Rarer mutations occurred in individuals with an attenuated phenotype. Although many disease-associated HRAS alterations trigger constitutive activation of HRAS-dependent signalling pathways, additional pathological consequences exist. An infant with failure-to-thrive and hypertrophic cardiomyopathy had a novel de novo HRAS mutation (c.179G>T; p.Gly60Val). He showed subtle dysmorphic findings consistent with attenuated CS and died from presumed cardiac cause. Functional studies revealed that amino acid change p.Gly60Val impairs HRAS binding to effectors PIK3CA, phospholipase C1, and RAL guanine nucleotide dissociation stimulator. In contrast, interaction with effector rapidly accelerated fibrosarcoma (RAF) and regulator NF1 GTPase-activating protein was enhanced. Importantly, expression of HRAS p.Gly60Val in HEK293 cells reduced growth factor sensitivity leading to damped RAF-MAPK and phosphoinositide 3-kinases-AKT signalling response. Our data support the idea that a variable range of dysregulated HRAS-dependent signalling dynamics, rather than static activation of HRAS-dependent signal flow, may underlie the phenotypic variability in CS.
Subject(s)
Costello Syndrome/diagnosis , Costello Syndrome/genetics , Mutation , Phenotype , Proto-Oncogene Proteins p21(ras)/genetics , Alleles , Amino Acid Substitution , Autopsy , Cell Line , Costello Syndrome/metabolism , Fatal Outcome , Genetic Association Studies , Genotype , Humans , Infant , Male , Proto-Oncogene Proteins p21(ras)/metabolism , Signal TransductionABSTRACT
Mass measurement by electrospray mass spectrometry (ESMS) is used as a rapid preliminary verification of the identity of various recombinant proteins ranging from 7 to 44 kDa with an accuracy of 0.01-0.03%. ESMS not only improves the speed but also the reliability of the protein structure determination when used in conjunction with other methods of protein analysis. Modifications of these large molecules, for example the loss of C-terminal amino acids, N-terminal acetylation, 2-mercaptoethanol addition to a cysteine, and trace formation of a covalent dimer (3%), are easily detected individually or in mixtures by mass measurement using ESMS; feats which would be very difficult to achieve using classical biochemical methods. As little as 1% of several structurally related protein contaminants have been identified in a 15 kDa recombinant protein preparation.