Notes

Protection against tubulin/aldose reductase association delays the development of pathological problems in diabetic person test subjects.
We report a case of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) with minimal skin involvement but severe protein-losing enteropathy and airway involvement. Genetic analysis revealed heterozygous mutations in the ITGB4 gene encoding integrin β4 protein. Parental testing confirmed inheritance of frameshift variant (c.794dupC) as maternal and splice site variant (c.1608C>T/p.Cys536Cys) as paternal. Immunofluorescence mapping of her skin revealed a subepidermal blister with decreased and frayed integrin β4 at both the floor and the roof of the blister, while the intestinal mucosa showed complete absence of integrin β4. We review the literature and discuss the differential expression of integrins in the skin and gastrointestinal tract, as well as the role of chronic inflammation in the pathogenesis of EB.We present two infants with histologically confirmed congenital dermatomyofibromas. Congenital cases are rare with only one prior case reporting presence since birth. Given the benign nature of the lesions and propensity of dermatomyofibromas to resolve without intervention in young male patients, no additional treatments were pursued.We report 20 newborns who developed, at a median age of 7 days, large abdominal patches of radially arranged purplish telangiectasia in a bilateral and symmetrical pattern in relation to the midline, creating a "butterfly wing" pattern. Clinical examination was normal in 13 newborns, six newborns had abdominal distention, and one newborn had poor weight gain due to inadequate breastfeeding. Most lesions spontaneously resolved within 3 months and did not reoccur for 19 newborns. Transient abdominal telangiectasia of the newborn (TATN) appears to be a distinctive entity that has not been previously described.
Cutaneous body image (CBI) is a self-reported measure of an individual's satisfaction with their hair, skin, and nails using a psychometric survey described and validated in adult dermatology patient populations. As the CBI's clinical utility for pediatric dermatology patients has not yet been examined, we assessed the relationship between CBI scores, demographic, and clinical parameters among adolescents.

Retrospective cohort of 293 patients ages 13-18 seen at the UCSF pediatric dermatology clinic from June 2017 to February 2019. An 11-question CBI survey was administered as part of routine clinical care, querying patient satisfaction with their skin, hair, and nails on a 10-point Likert-type scale, and experience with embarrassment, bullying, and mental health care.

Satisfaction with overall skin, skin of face, and hair significantly varied by patient age (P<.05), decreasing among subjects ages 13-16, and comparatively higher among patients ages 17-18. Mean total CBI scores did not significantly varms patient-centered discussions and management in the pediatric dermatology clinic setting.
Epidermolysis bullosa (EB) is an inherited disorder that results in painful skin blisters requiring daily wound care. The psychosocial impact of EB is one of the most significant concerns for patients, but there is minimal research addressing these concerns or ways to improve patient quality of life (QoL).

To examine the psychosocial impact of EB on affected patients and ways to improve their QoL.

Eight EB participants were selected from the 2006 DEBRA Family Conference Day in Toronto. Participants were interviewed by a social worker and a field evaluator. The transcript of each interview was assessed using qualitative content analysis.

Four themes were identified school interaction, daily life, family interactions, and societal interactions. Participants reported being teased and avoided by peers, and they felt their conditions were misunderstood by the general public. School absenteeism resulted in some patients falling behind in school, which may have been misinterpreted as intellectual impairment. Patients acknowledged significant dependence on others and felt they were contributing to caregiver burden.

Our findings highlight the psychosocial impact of EB on patients. Bromelain As EB awareness and resources to support patients and caregivers have improved since this study was conducted, more studies exploring the current landscape and opportunities to improve quality of life are needed.
Our findings highlight the psychosocial impact of EB on patients. As EB awareness and resources to support patients and caregivers have improved since this study was conducted, more studies exploring the current landscape and opportunities to improve quality of life are needed.Pericytes are one of the main components of the neurovascular unit. They play a critical role in regulating blood flow, blood-brain barrier permeability, neuroinflammation, and neuronal activity. In the central nervous system (CNS), pericytes are classified into three subtypes, that is, ensheathing, mesh, and thin-strand pericytes, based on their distinct morphologies and region-specific distributions. However, whether these three types of pericytes exhibit heterogeneity or homogeneity with regard to membrane properties has been understudied to date. Here, we combined bulk RNA sequencing analysis with electrophysiological methods to demonstrate that the three subtypes of pericytes share similar electrical membrane properties in the CNS, suggesting a homogenous population of neurovascular pericytes in the brain. Furthermore, we identified an inwardly rectifying potassium channel subtype Kir4.1 functionally expressed in pericytes. Electrophysiological patch clamp recordings indicate that Kir4.1 channel currents in pericytes represent a small portion of the K+ macroscopic currents in physiological conditions. However, a significant augmentation of Kir4.1 currents in pericytes was induced when the extracellular K+ was elevated to pathological levels, suggesting pericytes Kir4.1 channels might play an important role as K+ sensors and contribute to K+ homeostasis in local neurovascular networks in pathology.Sinus pericranii is a rare vascular anomaly characterized by an abnormal communication between the intra- and extracranial venous systems through a calvarial defect(s). We present three cases of congenital sinus pericranii with facial involvement, emphasizing its cutaneous presentation with diagnostic pitfalls and discuss the multidisciplinary management of this vascular anomaly.
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