Cutaneous Collagenous Vasculopathy: A Short Case Series and Literature Review.

ABSTRACT: Cutaneous collagenous vasculopathy (CCV) is a rare and idiopathic microangiopathy of superficial dermal blood vessels. There have been 75 cases described in the literature to date, not including the current report; however, given its clinical similarity to other primary telangiectasias, it is likely to be underreported and underdiagnosed. Here, we describe the clinical and histological features of 2 patients we newly diagnosed with CCV. Both generally fit the profile of prior cases and confirm previously described associations-they both are older White women, have rashes on their lower extremities, and have conditions and medications that are common among other reported cases. However, both are also somewhat atypical, as Patient 1 had symptomatic CCV and Patient 2 had a papular rash. As such, both cases broaden the spectrum of our current understanding of CCV. We also provide a comprehensive review of all published reports of CCV to date and uncover 2 previously unreported associations: one with visceral malignancy, and the other with hypothyroidism. Whether these association are coincidental is worth investigating in future studies.

The impact of preterm birth <37 weeks on parents and families: a cross-sectional study in the 2 years after discharge from the neonatal intensive care unit.

BACKGROUND: Little is known about the quality of life of parents and families of preterm infants after discharge from the neonatal intensive care unit (NICU). Our aims were (1) to describe the impact of preterm birth on parents and families and (2) and to identify potentially modifiable determinants of parent and family impact. METHODS: We surveyed 196 parents of preterm infants <24 months corrected age in 3 specialty clinics (82% response rate). Primary outcomes were: (1) the Impact on Family Scale total score; and (2) the Infant Toddler Quality of Life parent emotion and (3) time limitations scores. Potentially modifiable factors were use of community-based services, financial burdens, and health-related social problems. We estimated associations of potentially modifiable factors with outcomes, adjusting for socio-demographic and infant characteristics using linear regression. RESULTS: Median (inter-quartile range) infant gestational age was 28 (26-31) weeks. Higher Impact on Family scores (indicating worse effects on family functioning) were associated with taking ≥3 unpaid hours/week off from work, increased debt, financial worry, unsafe home environment and social isolation. Lower parent emotion scores (indicating greater impact on the parent) were also associated with social isolation and unpaid time off from work. Lower parent time limitations scores were associated with social isolation, unpaid time off from work, financial worry, and an unsafe home environment. In contrast, higher parent time limitations scores (indicating less impact) were associated with enrollment in early intervention and Medicaid. CONCLUSIONS: Interventions to reduce social isolation, lessen financial burden, improve home safety, and increase enrollment in early intervention and Medicaid all have the potential to lessen the impact of preterm birth on parents and families.

ALTERED PARAFOVEAL MICROVASCULATURE IN TREATMENT-NAIVE CHOROIDAL MELANOMA EYES DETECTED BY OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

PURPOSE: To determine whether parafoveal microvascular changes have occurred in choroidal melanoma eyes before radiotherapy. METHODS: A retrospective cohort study included 30 consecutive patients with unilateral choroidal melanoma. The microvascular structure was analyzed by optical coherence tomography angiography. Fellow eyes served as control for affected eyes. RESULTS: Optical coherence tomography angiography demonstrated no difference in superficial foveal avascular zone (P = 0.316), but showed significant enlargement in deep foveal avascular zone (P < 0.0001) in affected eyes as compared with fellow eyes. It also showed significant decrease in superficial (P = 0.004) and deep (P = 0.0003) capillary vascular density (CVD). In subgroup analyses, the presence of subretinal fluid contributed to significant enlargement of deep foveal avascular zone (P < 0.0001) as well as reduction in superficial (P = 0.0001) and deep (P = 0.001) CVD. By linear regression, greater tumor diameter correlated with reduction in deep CVD (y = -0.42x + 1.01, Pslope = 0.021); greater tumor thickness correlated with reduction in both superficial (y = -0.67x + 0.24, Pslope = 0.039) and deep (y = -0.82x + 0.56, Pslope = 0.002) CVD. CONCLUSION: Optical coherence tomography angiography documented significant enlargement of deep foveal avascular zone as well as reduction in superficial and deep CVD in affected eyes. These findings correlated with the presence of subretinal fluid and increasing tumor size, suggesting that tumor-related factors contribute to parafoveal microvascular ischemia.

Validation and implementation of Aperio LV1 remote live view telepathology system for intraoperative frozen section diagnosis.

Introduction: Telepathology (TP) allows for remote slide review with performance comparable to traditional light microscopy. Use of TP in the intraoperative setting allows for faster turnaround and greater user convenience by obviating the physical presence of the attending pathologist. We sought to perform a practical validation of an intraoperative TP system using the Leica Aperio LV1 scanner in tandem with Zoom teleconferencing software. Methods: A validation was performed in accordance with recommendations from CAP/ASCP, using a retrospectively identified sample of surgical pathology cases with a 1 year washout period. Only cases with frozen-final concordance were included. Validators underwent training in the operation of the instrument and conferencing interface, then reviewed the blinded slide set annotated with clinical information. Validator diagnoses were compared to original diagnoses for concordance. Results: 60 slides were chosen for inclusion. 8 validators completed the slide review, each requiring 2 h. The validation was completed in 2 weeks. Overall concordance was 96.4%. Intraobserver concordance was 97.3%. No major technical hurdles were encountered. Conclusion: Validation of the intraoperative TP system was completed rapidly and with high concordance, comparable to traditional light microscopy. Institutional teleconferencing implementation driven by the COVID pandemic facilitated ease of adoption.

Deep learning generates synthetic cancer histology for explainability and education.

Artificial intelligence methods including deep neural networks (DNN) can provide rapid molecular classification of tumors from routine histology with accuracy that matches or exceeds human pathologists. Discerning how neural networks make their predictions remains a significant challenge, but explainability tools help provide insights into what models have learned when corresponding histologic features are poorly defined. Here, we present a method for improving explainability of DNN models using synthetic histology generated by a conditional generative adversarial network (cGAN). We show that cGANs generate high-quality synthetic histology images that can be leveraged for explaining DNN models trained to classify molecularly-subtyped tumors, exposing histologic features associated with molecular state. Fine-tuning synthetic histology through class and layer blending illustrates nuanced morphologic differences between tumor subtypes. Finally, we demonstrate the use of synthetic histology for augmenting pathologist-in-training education, showing that these intuitive visualizations can reinforce and improve understanding of histologic manifestations of tumor biology.

An Update on Endocrine Mucin-producing Sweat Gland Carcinoma: Clinicopathologic Study of 63 Cases and Comparative Analysis.

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare, low-grade adnexal neoplasm with predilection for the periorbital skin of older women. Histologically and immunophenotypically, EMPSGC is analogous to another neoplasm with neuroendocrine differentiation, solid papillary carcinoma of the breast. Both lesions are spatially associated with neuroendocrine mucinous adenocarcinomas of the skin and breast, respectively. EMPSGC is ostensibly a precursor of neuroendocrine-type mucinous sweat gland adenocarcinoma (MSC), a lesion of uncertain prognosis. Non-neuroendocrine MSC has been deemed locally aggressive with metastatic potential, and previous works speculated that EMPSGC-associated (neuroendocrine-type) MSC had similar recurrence and metastatic potential with implications for patient follow-up. Only 96 cases of EMPSGC have been reported (12 cases in the largest case series). Herein, we present 63 cases diagnosed as "EMPSGC" in comparison with aggregated results from known published EMPSGC cases. We aim to clarify the clinicopathologic features and prognostic significance of the neuroendocrine differentiation of EMPSGC and its associated adenocarcinoma and to determine the nosological relevance of EMPSGC association in the spectrum of MSC histopathogenesis. Results established an overall female predominance (66.7%) and average presenting age of 64 years. EMPSGC lesions were associated with adjacent MSC in 33.3% of cases. The recurrence rate for neuroendocrine-type MSC was ~21%, less than the reported 30% for non-neuroendocrine MSC. There were no cases of metastasis. EMPSGC and neuroendocrine-type MSC are distinct entities with more indolent behavior than previously reported, supporting a favorable prognosis for patients.

Alacrima, a rare cause of pediatric dry eye.

We report the case of a 12-year-old boy who presented with a history of 4-5 years of severe bilateral photophobia, with exacerbation and increased ocular pain for 3-4 days. There were no systemic signs, and serology tests were negative; however, parents noted crying without tears since birth. Computerized tomography of the orbits revealed bilateral hypoplasia of lacrimal glands. A clinico-radiological correlation suggested a diagnosis of alacrima, a rare entity that should be considered in the differential diagnosis of severe pediatric dry eye, which is itself a commonly overlooked condition. In addition to artificial tears, permanent punctal occlusion with cautery provided symptomatic relief to the patient.

The acceptability and feasibility of emailed parent questionnaires for medical and developmental surveillance after NICU discharge.

OBJECTIVES: The following are the objectives of this study: (1) Assess the feasibility and acceptability of emailing parent-reported measures of infant health and development after NICU discharge. (2) Examine whether post-discharge questionnaire data helps identify infants most likely to benefit from specialized follow-up care. STUDY DESIGN: Parents of 51 infants <32 weeks' gestation received email questionnaires at 44 weeks postmenstrual age (PMA) and 6 months corrected age (CA). Adverse infant outcomes were assessed in-person at 6 months: (1) Bayley-III cognitive or motor score <85; (2) weight, length, or head circumference <10th percentile; (3) new referral for medical or developmental services. RESULTS: Questionnaire response was 48 (94%) at 44 weeks PMA and 46 (90%) at 6 months CA. 36 (70%) infants were assessed at 6 months; 72% had at least 1 adverse outcome. Poorer transition home, feeding problems, and special health care needs at 44 weeks PMA predicted adverse outcomes. Feeding problems, maternal depression, and lower infant health-related quality of life at 6 months CA correlated with adverse outcomes. CONCLUSIONS: Emailed questionnaires after NICU discharge were feasible to implement and acceptable to families. Repeated post-discharge assessments may help identify infants at heightened health and developmental risk.