Naevus comedonicus of the scalp

We report the case of a 3-year-old boy with naevus comedonicus, characterized by confluent clusters of dilated follicular orifices plugged with keratinous material that resemble open comedones, located on the scalp.     

The Impact of Trans-thoracic Ultrasound on Cardiac Injuries

Objective:

To determine the impact of trans-thoracic ultrasound (TTUS) in patients with chest trauma and potential cardiac injuries and to determine the outcome of patients with cardiac injury detected on TTUS.

Method:

Data were obtained from the Trauma Registry for all patients presenting alive to the University Hospital of the West Indies during the 10-year period commencing January 1, 2001 and who were subjected to a TTUS or emergency thoracotomy for cardiac injuries, or had cardiac injuries at postmortem. In addition to demographics, variables analysed included mechanism and site of injury and outcome.

Results:

Of 405 patients being subjected to a TTUS during the period, 12 (3%) had cardiac injuries. During the same period, 63 patients in the Trauma Registry had proven cardiac injuries. Transthoracic ultrasound was thus conducted on 19% of all patients with cardiac injuries. Three patients had positive TTUS but no cardiac injuries. Of the patients with injuries, the mean age was 30.4 years, 92.1% were male and 65% were as a result of stab wounds, while 22% were as a result of gunshot wounds. The right ventricle was the most common site of injury, accounting for 41% of cases, while the left ventricle, both ventricles and other sites accounted for 27%, 17% and 14%, respectively. Ninety per cent of the group was subjected to emergency thoracotomy; mortality of the entire group was 48%, including one patient who had TTUS.

Conclusions:

This review demonstrates that cardiac injuries remain lethal, diagnosis is largely clinical and TTUS may be over-utilized, having little impact on clinical outcome of patients presenting with this injury.     

Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non-high-grade serous ovarian carcinomas

The identification of causal BRCA1/2 pathogenic variants (PVs) in epithelial ovarian carcinoma (EOC) aids the selection of patients for genetic counselling and treatment decision-making. Current recommendations therefore stress sequencing of all EOCs, regardless of histotype. Although it is recognised that BRCA1/2 PVs cluster in high-grade serous ovarian carcinomas (HGSOC), this view is largely unsubstantiated by detailed analysis. Here, we aimed to analyse the results of BRCA1/2 tumour sequencing in a centrally revised, consecutive, prospective series including all EOC histotypes. Sequencing of n = 946 EOCs revealed BRCA1/2 PVs in 125 samples (13%), only eight of which were found in non-HGSOC histotypes. Specifically, BRCA1/2 PVs were identified in high-grade endometrioid (3/20; 15%), low-grade endometrioid (1/40; 2.5%), low-grade serous (3/67; 4.5%), and clear cell (1/64; 1.6%) EOCs. No PVs were identified in any mucinous ovarian carcinomas tested. By re-evaluation and using loss of heterozygosity and homologous recombination deficiency analyses, we then assessed: (1) whether the eight ‘anomalous’ cases were potentially histologically misclassified and (2) whether the identified variants were likely causal in carcinogenesis. The first ‘anomalous’ non-HGSOC with a BRCA1/2 PV proved to be a misdiagnosed HGSOC. Next, germline BRCA2 variants, found in two p53-abnormal high-grade endometrioid tumours, showed substantial evidence supporting causality. One additional, likely causal variant, found in a p53-wildtype low-grade serous ovarian carcinoma, was of somatic origin. The remaining cases showed retention of the BRCA1/2 wildtype allele, suggestive of non-causal secondary passenger variants. We conclude that likely causal BRCA1/2 variants are present in high-grade endometrioid tumours but are absent from the other EOC histotypes tested. Although the findings require validation, these results seem to justify a transition from universal to histotype-directed sequencing. Furthermore, in-depth functional analysis of tumours harbouring BRCA1/2 variants combined with detailed revision of cancer histotypes can serve as a model in other BRCA1/2-related cancers. © 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland.     

ANGIOTENSIN II RECEPTORS AND RENIN IN THE PORCINE UTERUS: MYOMETRIAL AT2 AND ENDOMETRIAL AT1 RECEPTORS ARE DOWN-REGULATED DURING GESTATION

1. The aim of the present study was to characterize the angiotensin II (AngII) receptor subtypes in the porcine uterus and the variation of receptor densities and renin concentrations during gestation. 2. In myometrium from non-pregnant sows, the AngII receptors were almost exclusively AT₂ receptors. During gestation, the AngII receptor density was decreased and the AT₁ receptor became predominant in the last part of gestation as a result of a down-regulation of the AT₂ receptor. 3. In the endometrium, the AT₁ receptor was predominant both in non-pregnant sows and throughout gestation. The AngII receptor density was decreased during gestation as a consequence of down-regulation of the AT₁ receptor. 4. The renin concentrations in the myometrium and endometrium of pregnant sows did not differ from those in non-pregnant animals. 5. The finding of enzymatically active renin and high densities of AngII receptors in the porcine uterus is in accordance with a functional renin-angiotensin system (RAS), which may be important for an increased vascular permeability and stimulated angiogenesis in early pregnancy and for contraction of the myo-metrial smooth muscle cells during parturition. The predominance of ATi receptors in the endometrium of non-pregnant sows differs from an earlier finding in non-pregnant women, where AT2 receptors were predominant in the endometrium. This is in accordance with earlier studies, indicating species differences in the expression and possibly also the physiological roles of the RAS in reproductive tissues.