Skin lesions in 397 children referred for forensic medical examination on suspicion of physical abuse.

INTRODUCTION: Physical child abuse is a well-known global health problem. Considerable efforts have been devoted to identifying predictors of physical abuse. METHODS: This study included all 397 cases in the cohort of children aged 0-18 years referred to the Department of Forensic Medicine, Aarhus University, Denmark, between 2000 and 2020 on suspicion of exposure to physical abuse. The number, character and location of skin lesions were described. Bone fractures were recorded. A total of 59 cases involving weapons and sharp force violence related to attack or fighting between young people were assessed as a separate group. RESULTS: The annual number of cases referred increased. The male-to-female ratio in the cohort was 6:4. Bruising was the most common skin manifestation in the blunt force violence (BFV) group; 72.2% of the individuals had skin lesions on the head and neck, thus visible on a normally dressed child. Lesions on the hands and arms were present in 69.8% of the BFV cases and may partially reflect defensive reactions. One or more bone fractures were recorded in 19.5% of the BFV group. Occult fractures were observed in 40% of the children in the BFV group ≤ 2 years of age. CONCLUSIONS: More than 70% of the children in the BFV group had lesions on the head and neck visible on a normally dressed child. Skin lesions on hands and arms, which are visible on a lightly dressed child, were just as frequent. Persons with close relation to children should be aware of this opportunity to spot non-accidental skin injuries. FUNDING: none. TRAIL REGISTRATION: not relevant.

Suspicion of child maltreatment: Knowledge and experiences with mandatory reports to social services among general practitioners in Denmark in 2019-20.

BACKGROUND: Child maltreatment has many consequences through the lifespan. The general practitioners (GPs) are in longitudinal contact with the family and can play an important role in identifying children in danger and reporting to the social services. OBJECTIVE: To explore how GPs manage suspicions of child maltreatment and to investigate potential demographic and geographic differences in reporting practices among Danish GPs. PARTICIPANTS AND SETTING: All registered GPs in Denmark retrieved from Medcom, a state-financed non-profit organization. METHODS: We mailed a questionnaire to all registered GPs with demographics, experiences, knowledge, and attitudes in the context of child maltreatment. RESULTS: We received 1252 completed questionnaires (response rate: 38 %). Most of the participants had suspected child maltreatment during their professional life (90 %) and had made a mandatory report (85 %). More than half had received feedback after the report (56 %) and said that their report led to action (56 %). Most GPs reported feeling confident in dealing with child maltreatment (79 %) and being willing to get involved in case of suspicion (8.9 on a 0-10 scale). We observed no geographical differences in reporting neither across the Danish regions nor among rural and urban practices, but GPs working in single practices made fewer reports to the social services. CONCLUSIONS: Participant GPs in this study are aware of their role in child protection, have experiences with mandatory reports, and are willing to get involved. Possible areas for attention include collaboration and support between different settings, especially between GP practice, hospitals, justice sector, and social services.

Lethal abusive head trauma in infancy in Denmark from 2000 to 2011.

INTRODUCTION: We aimed to estimate the incidence of lethal abusive head trauma (AHT) in infancy in Denmark from 2000 through 2011 and to describe autopsy findings and information from police reports on lethal AHT cases. METHODS: This was a nationwide retrospective study. We identified AHT cases in the National Cause of Death Register (CODR) and in forensic archives and compared data from the two sources. Moreover, we collected data on medical history, witness statements and conviction reports from police files and the Director of Public Prosecutions. RESULTS: We identified eight cases of lethal infant AHT (incidence: 1.04 per 100,000 person years). Three AHT cases from autopsy reports were not registered correctly in the CODR. The median age of the victims was 46.5 days. They all had recent subdural and/or subarachnoid haemorrhage. We also found a high prevalence of retinal haemorrhage and fractures. Seven perpetrators were identified, all male relatives, and all were convicted. We moreover identified a surprisingly large number of infants with unspecific cause of death and missing information on whether an autopsy had been performed in the CODR (n = 56). CONCLUSIONS: The incidence of lethal infant AHT found in this study is lower than findings from most other countries. Data from the CODR are inadequate for identifying all lethal AHTs. Further studies including non-fatal cases of AHT are needed to determine the real incidence of AHT in Denmark. FUNDING: none. TRIAL REGISTRATION: not relevant.

Identifying signs of child neglect and abuse in general practice.

INTRODUCTION: Children who live with neglect and abuse are often identified late in the process. At the front line of Danish healthcare, where most children are seen regularly, general practice is well placed to raise concerns about child health and wellbeing. Little is known about the role general practitioners (GPs) play in suspecting and reporting child neglect and abuse. We explored challenges GPs are facing in identifying such children and illustrated some of the barriers preventing GPs from reporting on these cases. METHODS: This was an explorative pilot study, preceding a larger multidisciplinary project. We conducted eight semi-structured interviews with selected Danish GPs. The interviews were transcribed verbatim and coded using thematic analysis. RESULTS: GPs rarely experienced concrete signs of child neglect and abuse, and reporting to the social services was often a way of helping families to get the support they needed. When GPs suspected that "something was wrong", this was based on a gut feeling, triggered by non-measurable and intangible signs such as changes in health-seeking behaviour or in the relationship between caregivers and children. CONCLUSIONS: The intangibility of signs provoking suspicion of neglect and abuse made acting or reporting difficult and GPs felt that they lacked opportunities to take action. More knowledge is needed on how to approach matters of child protection and wellbeing across health professions and specialities. FUNDING: The study was funded by the Danish Victims Fund. TRIAL REGISTRATION: not relevant.

A novel nonsense variant in MED12 associated with malformations in a female fetus.

Pathogenic variants in the MED12 gene located on the X-chromosome have primarily been reported in males with Lujan-Fryns syndrome, Ohdo syndrome and the Opits-Kaveggia syndrome. However, earlier reports of female patients and female mice suggest that MED12 deficiency causes severe malformations. We report a novel example of a MED12 de novo nonsense variant in a female fetus with severe malformations identified by trio-exome sequencing. This finding further expands the clinical spectrum of MED12-related disorders, which is vital for prenatal diagnosis and genetic counselling of couples.

Postmortem protein stability investigations of the human hepatic drug-metabolizing cytochrome P450 enzymes CYP1A2 and CYP3A4 using mass spectrometry.

Variability in expression and activity of hepatic drug-metabolizing cytochrome P450 (CYP) enzymes can play a causal role in fatal intoxication cases and is thus of forensic interest. We investigated the feasibility of LC-MS/MS based quantification and in vitro enzyme activity measurements of two major drug-metabolizing enzymes CYP1A2 and CYP3A4 in postmortem human liver microsomes (HLM). In autopsy cases (postmortem interval 24-36 h) we found CYP1A2 and CYP3A4 protein levels similar to that measured in a non-decayed reference HLM pool, whereas CYP1A2 and CYP3A4 enzyme activities were absent or severely decreased. Stability studies showed that CYP1A2 and CYP3A4 protein abundances were relatively stable in tissue stored in vitro for up to seven days at 4 °C. When tissue was stored for more than one day at 21 °C variable and case-specific decay patterns were observed, and CYP abundances declined especially after 3-4 days storage. Investigations of 50 autopsy cases revealed mean CYP1A2 and CYP3A4 levels of 49 and 47 pmol per mg HLM protein and inter-individual variabilities similar to those reported in other studies. This study supports postmortem quantification of CYP proteins in autopsy hepatic tissue by mass spectrometry. SIGNIFICANCE: This study indicates that MS-based detection of drug-metabolizing cytochrome P450 (CYP) proteins is achievable in postmortem hepatic tissue and that acceptable quantification data are obtainable but dependent on the storage conditions and postmortem sampling time. CYP abundance data could contribute to a conceivable way of assessing individual CYP activity phenotypes in a postmortem context.

Pelvic sepsis after extended Hartmann's procedure.

PURPOSE: An extended Hartmann's procedure is occasionally useful in rectal resections, because anastomotic, perineal, and functional problems are eliminated. This study was designed to examine the occurrence of pelvic sepsis after this procedure and identify possible risk factors. METHODS: Medical records were available for 163 patients (89 females) undergoing rectal resection with colostomy and closure of the rectal remnant. Information about pelvic sepsis and possible risk factors was obtained by review of the medical records. RESULTS: Pelvis sepsis developed in 31 of 163 patients (18.6 percent). When the rectum had been transected <2 cm above the pelvic floor, 24 of 73 patients (32.9 percent) developed an abscess in contrast to 7 of 90 (7.8 percent) after higher transsection (P = 0.0001). Other risk factors were male gender and missing foot pulses. Only 61 percent of pelvic abscesses healed after a median of 59 days, leaving 39 percent unhealed after an observation period of 277 (range, 20-1,643) days. CONCLUSIONS: Surgical alternatives should be considered to an extended Hartmann's procedure when the level of transsection is <2 cm above the pelvic floor, particularly in males.