An unusual case of acquired generalized lipodystrophy (panniculitis variety).

Acquired generalized lipodystrophy (AGL) is a rare disease characterized by variable loss of adipose tissue and concurrent metabolic derangements, typically with childhood or adolescent onset. AGL has three subclassifications: panniculitis (type 1), autoimmune disease (type 2), and idiopathic (type 3). This report highlights a rare case of AGL type 1 in a previously healthy 3-year-old female who presented with diffuse erythematous subcutaneous nodules, progressive lipoatrophy, and histopathological findings of a lobular panniculitis.

Is Skill Type the Key to the PreK Fadeout Puzzle? Differential Associations Between Enrollment in PreK and Constrained and Unconstrained Skills Across Kindergarten.

This study examines whether associations between enrollment in public and non-public PreK and children's (N = 508; Mage  = 5.60 years in fall of kindergarten) math and language and literacy outcomes were more likely to be sustained through the spring of kindergarten for unconstrained versus constrained skills. Associations between public PreK and language, literacy, and math outcomes were more strongly sustained through the spring of kindergarten for unconstrained skills, relative to constrained skills. Only associations between non-public PreK and unconstrained language skills were sustained through the spring of kindergarten. Associations in the fall of kindergarten differed by family income and dual language learner (DLL) status but there was no subgroup variation by the spring of kindergarten. Implications for policy and practice are discussed.

Skin necrosis in spinal muscular atrophy: Case report and review of the literature.

Spinal muscular atrophy (SMA) type 0 is the most severe phenotype of SMA and is characterized by hypotonia, muscle weakness, and respiratory distress. Cutaneous necrosis, first described in an SMA mouse model, can occur in patients with severe disease; the use of targeted treatment versus supportive measures in the setting of skin necrosis is debated. We present a male infant with SMA type 0 with cutaneous necrosis of proximal and distal limbs who improved with supportive care. The seven previously reported cases of SMA skin necrosis are reviewed.

Adenosine kinase inhibition enhances microvascular dilator function and improves left ventricle diastolic dysfunction.

OBJECTIVE: Inhibition of adenosine kinase (ADK), via augmenting endogenous adenosine levels exerts cardiovascular protection. We tested the hypothesis that ADK inhibition improves microvascular dilator and left ventricle (LV) contractile function under metabolic or hemodynamic stress. METHODS AND RESULTS: In Obese diabetic Zucker fatty/spontaneously hypertensive heart failure F1 hybrid rats, treatment with the selective ADK inhibitor, ABT-702 (1.5 mg/kg, intraperitoneal injections for 8-week) restored acetylcholine-, sodium nitroprusside-, and adenosine-induced dilations in isolated coronary arterioles, an effect that was accompanied by normalized end-diastolic pressure (in mm Hg, Lean: 3.4 ± 0.6, Obese: 17.6 ± 4.2, Obese + ABT: 6.6 ± 1.4) and LV relaxation constant, Tau (in ms, Lean: 6.9 ± 1.5, Obese: 13.9 ± 1.7, Obese + ABT: 6.0 ± 1.1). Mice with vascular endothelium selective ADK deletion (ADKVEC KO) exhibited an enhanced dilation to acetylcholine in isolated gracilis muscle (lgEC50 WT: -8.2 ± 0.1, ADKVEC KO: -8.8 ± 0.1, P < .05) and mesenteric arterioles (lgEC50 WT: -7.4 ± 0.2, ADKVEC KO: -8.1 ± 1.2, P < .05) when compared to wild-type (WT) mice, whereas relaxation of the femoral artery and aorta (lgEC50 WT: -7.03 ± 0.6, ADKVEC KO: -7.05 ± 0.8) was similar in the two groups. Wild-type mice progressively developed LV systolic and diastolic dysfunction when they underwent transverse aortic constriction surgery, whereas ADKVEC -KO mice displayed a lesser degree in decline of LV function. CONCLUSIONS: Our results indicate that ADK inhibition selectively enhances microvascular vasodilator function, whereby it improves LV perfusion and LV contractile function under metabolic and hemodynamic stress.

Vitiligo in a Patient With Kabuki Syndrome: Case Study and Review of the Literature.

Kabuki Syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal anomalies, dermatoglyphic abnormalities, intellectual disability, and short stature. Autoimmune disease can be seen more frequently in this patient population. Vitiligo is an autoimmune disease that is uncommonly reported in patients with KS. This report describes a case of vitiligo manifesting in a patient with KS and discusses the use of Janus kinase inhibitors as treatment.

Does kindergarten instruction matter for sustaining the prekindergarten (PreK) boost? Evidence from individual- and classroom-level survey and observational data.

The sustaining environments hypothesis theorizes that the lasting effects of PreK programs are contingent on the quality of the subsequent learning environment in early elementary school. The current study tests this theory by leveraging data from students (N = 462) who did and did not enroll in the Boston Public Schools (BPS) prekindergarten (PreK) program as well as features of their kindergarten instruction measured at the child- and classroom-levels using surveys and observations. Taken together, findings revealed limited evidence for the sustaining environments hypothesis. The bulk of the results were null, indicating that in general, associations between enrollment in BPS PreK and language, literacy, and math skills through the spring of kindergarten did not vary by kindergarten instructional experiences. When examining distinct types of instructional experiences, there were some inklings that child-level observational measures of kindergarten learning experiences-particularly those capturing constrained versus unconstrained instruction-were more predictive of PreK persistence than observed global classroom quality measures or survey-based measures of advanced instruction. However, these associations were not always specific to outcomes matching the content delivered during this instruction (math vs. literacy), consistent with the possibility of either cross-domain effects or that instructional variables are proxies for more general instructional practices. Findings for future research and theory are discussed. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

Optical Genome Mapping and Single Nucleotide Polymorphism Microarray: An Integrated Approach for Investigating Products of Conception.

Conventional cytogenetic analysis of products of conception (POC) is of limited utility because of failed cultures, as well as microbial and maternal cell contamination (MCC). Optical genome mapping (OGM) is an emerging technology that has the potential to replace conventional cytogenetic methods. The use of OGM precludes the requirement for culturing (and related microbial contamination). However, a high percentage of MCC impedes a definitive diagnosis, which can be addressed by an additional pre-analytical quality control step that includes histological assessment of H&E stained slides from formalin-fixed paraffin embedded (FFPE) tissue with macro-dissection for chorionic villi to enrich fetal tissue component for single nucleotide polymorphism microarray (SNPM) analysis. To improve the diagnostic yield, an integrated workflow was devised that included MCC characterization of POC tissue, followed by OGM for MCC-negative cases or SNPM with histological assessment for MCC-positive cases. A result was obtained in 93% (29/31) of cases with a diagnostic yield of 45.1% (14/31) with the proposed workflow, compared to 9.6% (3/31) and 6.4% (2/31) with routine workflow, respectively. The integrated workflow with these technologies demonstrates the clinical utility and higher diagnostic yield in evaluating POC specimens.

How the National Ambulatory Medical Care Survey has been used to identify health disparities in the care of patients in the United States.

BACKGROUND: Healthcare disparities negatively impact patient health outcomes; addressing disparities could improve quality of life and decrease overall healthcare cost. The National Ambulatory Medical Care Survey (NAMCS) is an objective and reliable source for collecting information on United States (U.S.) ambulatory medical care service visits and may be a useful tool for identifying potential disparities in care. OBJECTIVE: The purpose of this literature review is to describe studies utilizing NAMCS to capture U.S. healthcare disparities. METHODS: PubMed was searched for scientific articles that utilized NAMCS to determine health disparities in the U.S. The keywords queried included "NAMCS" or "National Ambulatory Medical Care Survey" and "disparity" or "disparities" as a pair or additionally paired with one of the following: "race", "ethnicity", "age", "gender", "geography", or "insurance". RESULTS: 66 studies were found that incorporated NAMCS data from 1980-2016 into their methods to measure outcomes relating to health disparities. Disparities were found in the following categories: race/ethnicity, geographic location, age, insurance type, gender, specialist care versus primary care, body habitus, and preexisting conditions affecting patient outcomes. Disparities were identified in pain management, neurology, dermatology, psychiatry, patient communication access, and non-specialty specific or primary care visits related to disease conditions, screening, and treatment plans. LIMITATIONS: Only PubMed was utilized as a search engine and may not encompass all studies on NAMCS and health disparities. NAMCS is a cross-sectional database and does not allow for longitudinal analyses. CONCLUSIONS: NAMCS may be an underused tool given the limited number of articles that identify health disparities using it. Research studies utilizing NAMCS may identify potential disparities ultimately leading to better healthcare outcomes.

Case of Gut Necrosis in Adult-Onset Immunoglobulin A Vasculitis (Henoch-Schönlein Purpura).

Immunoglobulin A vasculitis (IgAV), formerly known as Henoch-Schönlein purpura, is an immune-mediated small vessel vasculitis characterized by palpable purpura, arthralgia, abdominal pain, and renal disease. It is primarily a childhood disease and usually resolves spontaneously with supportive therapy. Treatment of IgAV in adults is controversial with no clearly established guidelines. We report a rare case of IgAV in an adult male who developed gut necrosis and perforation while receiving glucocorticoid therapy for treatment of acute glomerulonephritis. A 44-year-old male was admitted with joint pain, leg swelling, mild abdominal pain, and a diffuse rash. Laboratory values revealed acute kidney injury with significant proteinuria and hematuria. The patient was started on glucocorticoid therapy for suspected IgAV nephritis, which was confirmed by kidney biopsy. Several days later, he complained of worsening abdominal pain. Imaging demonstrated bowel ischemia and perforation requiring multiple abdominal surgeries. The patient was critically ill in the intensive care unit with worsening renal failure requiring dialysis. He was discharged a month later after gradual recovery with stable but moderately impaired kidney function. IgAV is less common in adults; however, the disease is more severe with a higher risk of long-term complications. Adult patients with renal involvement may benefit from glucocorticoid therapy in preventing progression to end-stage renal disease. However, glucocorticoids may mask the symptoms of abdominal complications like gut necrosis and perforation causing delay in diagnosis and treatment. Therefore, vigilance to detect early signs of gut ischemia is imperative when treating an adult case of IgAV nephritis with glucocorticoids.

Time well spent: Home learning activities and gains in children's academic skills in the prekindergarten year.

Parental engagement in home-based learning activities is linked to children's academic skills. Yet, interventions that try to enhance parental engagement-sometimes targeted to families with low levels of education-have small effects. This study aimed to inform supports for families by examining how different types of home-based learning activities influence academic skills during prekindergarten. We created four measures that assessed the frequency with which parents (N = 307) engaged in unconstrained and constrained language/literacy and math activities at home. Unconstrained language activities predicted gains in children's language skills, and unconstrained math activities were associated with gains in math skills. Both associations were larger for families with lower versus higher levels of parental education. Engagement in constrained activities did not predict gains in skills. Implications for practice and research are discussed. (PsycINFO Database Record (c) 2020 APA, all rights reserved).

Temporal Profile and Severity Correlation of a Panel of Rat Spinal Cord Injury Protein Biomarkers.

In the USA, there are approximately 12,000 new cases of spinal cord injury (SCI) each year and some 1.2 million people living with paralysis due to SCI. Seven percent of them are paralyzed due to an accident or injury occurring while serving in the military. Here, we report a systematic study on protein biomarker candidates in a rat SCI model with either moderate or severe injury. Tissue, cerebrospinal fluid (CSF), and serum samples were obtained at 4 h, 24 h, and 7 days post-injury. The candidate biomarkers included axonal injury markers αII-spectrin breakdown products (SBDP150/145/120), neuronal cell body injury marker ubiquitin C-terminal hydrolase-L1 (UCH-L1), astrogliosis/astroglial injury markers S100 calcium-binding protein-ß (S100ß), glial fibrillary acidic protein (GFAP) and GFAP breakdown products (GBDPs), demyelination marker myelin basic protein (MBP), axonal injury marker phosphorylated neurofilament-H (pNF-H), and neuroinflammation marker interleukin-6 (IL-6). SBDP150/145, UCH-L1, GFAP, and S100ß were found as acute biomarkers with significantly elevated levels within 24 h. GBDP44, GBDP38, and pNF-H are acute and subacute biomarkers that were found to have increased at 4 h, 24 h, and 7 days. MBP and SBDP120 were considered subacute biomarkers which were only detectable at 7 days post-injury. These results not only allow us to gain important insight into the patho-mechanisms of SCI but also showcase the possibility of using some of the protein biomarkers to track injury severity and disease progression and resolution. These biomarkers can potentially serve as tools that assist therapy development and clinical trials.

A Repetitive Concussive Head Injury Model in Mice.

Despite the concussion/ mild traumatic brain injury (mTBI) being the most frequent occurrence of traumatic brain injury, there is still a lack of knowledge on the injury and its effects. To develop a better understanding of concussions, animals are often used because they provide a controlled, rigorous, and efficient model. Studies have adapted traditional animal models to perform mTBI to stimulate mild injury severity by changing the injury parameters. These models have been used because they can produce morphologically similar brain injuries to the clinical condition and provide a spectrum of injury severities. However, they are limited in their ability to present the identical features of injuries in patients. Using a traditional impact system, a repetitive concussive injury (rCHI) model can induce mild to moderate human-like concussion. The injury degree can be determined by measuring the period of loss of consciousness (LOC) with a sign of a transient termination of breathing. The rCHI model is beneficial to use for its accuracy and simplicity in determining mTBI effects and potential treatments.