Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.

RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients.

Effect of weekly vitamin D supplementation on the severity of atopic dermatitis and type 2 immunity biomarkers in children: A randomized controlled trial.

Background: Vitamin D (VD) deficiency is common among patients with atopic dermatitis (AD) and often associated with severity. However, randomized trials of VD supplementation in AD have had equivocal results, and there is little information regarding the effect of VD supplementation on type 2 immunity in AD patients.

Objectives: To investigate the efficacy of VD supplementation to decrease severity of AD and to alter type 2 immunity biomarkers.

Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.

PIK3CA-related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4-month-old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.

A Case of Steroid-Responsive Severe Pneumonia Following a Recent COVID-19 Infection in a Patient With Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infection.

A twenty-two-year-old woman with a history of pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) on rituximab presented with fever, abdominal pain, and worsening shortness of breath requiring supplemental oxygen via nasal cannula one month after a severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) infection from which she was minimally symptomatic and had recovered. Radiographic studies revealed bilateral patchy consolidations interspersed with ground-glass opacities (GGO). She was started on antibiotics for presumed community-acquired pneumonia with no improvement.

Skin sonography in children: a review.

Skin lesions are not uncommon in children, and most of them are benign. However, they can be a matter of concern. Although in most cases the diagnosis can be suspected based on clinical history and physical examination, in some cases clinical findings are nonspecific.

Skin Manifestations in Pediatric Patients Treated With a TNF-Alpha Inhibitor for Inflammatory Bowel Disease: A Retrospective Study [Formula: see text].

Background: Tumor necrosis factor (TNF) alpha inhibitors (anti-TNF) are effective in the treatment of inflammatory bowel disease (IBD) as well as psoriasis. Their increasing use has raised the identification of cutaneous side effects (CSEs). Evidence in children is limited.

Multifocal congenital hemangioma: Expanding the pathogenesis of "neonatal hemangiomatosis".

Congenital hemangiomas are benign vascular tumors, categorized by their postnatal behavior as rapidly involuting, non-involuting, or partially involuting. They are typically solitary, with a predilection for the head or limbs near a joint. We present two infants with small, multifocal congenital nonprogressive hemangiomas of the skin, one associated with hepatic and intracranial lesions, and another with an in utero intracranial hemorrhage and hydrocephalus.

Natural history of PHACE syndrome: A survey of adults with PHACE.

Background: Awareness of PHACE syndrome has increased; however, little information exists regarding its natural history, especially in patients over the age of 18. We aim to describe the natural history of PHACE to enhance clinical management and counseling of patients.

Methods: A cohort of patients ≥ 18 years was identified through the PHACE Syndrome Registry and a Vascular Anomalies Clinic Database.

Non-involuting congenital hemangiomas (NICH) with postnatal atypical growth: A case series.

Background: Non-involuting congenital hemangiomas (NICH) are fully formed vascular tumors at birth, with a distinctive clinical, radiologic, and histopathological profile, and classically lack expansion or involution over time. We describe a series of NICH cases with atypical postnatal growth.

Methods: The authors retrospectively analyzed all NICH cases diagnosed from 2007 to 2017.

An Unusual Case of Posterior Reversible Encephalopathy Syndrome.

A 21-year-old pregnant female with no significant past medical history presented with acute onset headache and nausea as well as tonic-clonic seizures, then rapidly decompensated into a coma with complete absence of brainstem reflexes. The patient was ultimately diagnosed with hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) and subsequent posterior reversible encephalopathy syndrome (PRES) with brainstem involvement. Emergent delivery and blood pressure control resulted in rapid and complete neurologic recovery.

Insulin-like growth factor 2: a poor prognostic biomarker linked to racial disparity in women with uterine carcinosarcoma.

The objective of this study was to investigate the relationship of insulin-like growth factor 2 (IGF2) expression and survival in women with uterine carcinosarcoma (UCS). Insulin-like growth factor 2 protein expression was determined by immunohistochemical staining of tumor tissues from 103 patients with UCS. The H-score (product of staining intensity and percentage positive cells) was quantified for the epithelial cytoplasmic (EC), epithelial nuclear (EN), and malignant stromal compartments.

Genetic Patterns of , a Rare Species of Fog-Dependent Forests of Mediterranean Chile: Is It a Climatic Relict?

Rare species frequently occur in areas with microclimatic conditions that are atypical for their regions, but that were more common in the past, and that probably have operated as climatic refugia for a long time. is a rare arboreal species that grows in deep canyons and hilltops of the Coast Range of north-central Chile between 30° and 35°S. In the northern edge of its distribution grows in small patches of fog-dependent forest surrounding by xeric vegetation.

Insulin/IGF and sex hormone axes in human endometrium and associations with endometrial cancer risk factors.

Purpose: Experimental and observational data link insulin, insulin-like growth factor (IGF), and estrogens to endometrial tumorigenesis. However, there are limited data regarding insulin/IGF and sex hormone axes protein and gene expression in normal endometrial tissues, and very few studies have examined the impact of endometrial cancer risk factors on endometrial tissue biology.

Methods: We evaluated endometrial tissues from 77 premenopausal and 30 postmenopausal women who underwent hysterectomy for benign indications and had provided epidemiological data.

Transforming growth factor β1 and extracellular matrix protease expression in the uterosacral ligaments of patients with and without pelvic organ prolapse.

Objectives: This study was undertaken to evaluate the expression of transforming growth factor β1 (TGF-β1) and matrix metalloproteinase 9 (MMP-9), key regulators of the extracellular matrix composition, in the uterosacral ligaments (USLs) of women with pelvic organ prolapse (POP) compared with controls.

Methods: Under an institutional review board approval, USL samples were obtained from women undergoing vaginal hysterectomy for stage 2 or greater POP (cases, n = 21) and from women without POP undergoing vaginal hysterectomy for benign indications (controls, n = 19). Hematoxylin and eosin and trichrome staining were performed on the USL sections, and the distribution of smooth muscle and fibrous tissue were quantified.

Insulin-like growth factor 2 silencing restores taxol sensitivity in drug resistant ovarian cancer.

Drug resistance is an obstacle to the effective treatment of ovarian cancer. We and others have shown that the insulin-like growth factor (IGF) signaling pathway is a novel potential target to overcome drug resistance. The purpose of this study was to validate IGF2 as a potential therapeutic target in drug resistant ovarian cancer and to determine the efficacy of targeting IGF2 in vivo.

REST-dependent epigenetic remodeling promotes the developmental switch in synaptic NMDA receptors.

NMDA receptors (NMDARs) are critical to synaptogenesis, neural circuitry and higher cognitive functions. A hallmark feature of NMDARs is an early postnatal developmental switch from those containing primarily GluN2B to primarily GluN2A subunits. Although the switch in phenotype has been an area of intense interest for two decades, the mechanisms that trigger it and the link between experience and the switch are unclear.

[Association between tattoos, piercings and risk behaviors in adolescents].

Background: The use of tattoos and piercings has increased, especially among adolescents in the last decades.

Aim: To evaluate the prevalence of these behaviors in adolescents and their association with risk behaviors such as alcohol, tobacco and illicit drug use and sexual promiscuity.

Material And Methods: An anonymous and confidential survey about tattooing and piercings was applied to randomly selected high school teenagers, attending municipal, private-subsidized and private schools, in four sectors of Santiago (north-east, south-east, north-west, south-west).

Admixture estimates for the population of Havana City.

Background: The Cuban population is essentially a result of the admixture between Spanish, West African and, to a lesser degree, Amerindian tribes that inhabited the island.

Aim: The study analysed the genetic structure of the three principal ethnic groups from Havana City, and the contribution of parental populations to its genetic pool.

Subjects And Methods: According to genealogical information and anthropological traits, 206 subjects were classified as Mulatto, of Spanish decent or of African descent.

[Tattooing and piercing in teenagers].

The presence of mutilations in the form of tattooing and body piercing is becoming increasingly common in adolescents, a practice that is not free of risk. Reported complications include local infections, bleeding, tearing, hypersensitivity reactions, transfusion-transmitted diseases (hepatitis B virus, hepatitis C virus, HIV, syphilis), Chagas' disease and infective endocarditis. On the other hand, several studies have demonstrated an association between body modifications and high-risk behavior in adolescents, as alcohol or drug abuse, cigarette smoking, violence and schooling problems.