Mental healthcare access among US adults with vision impairment and depression and/or anxiety symptoms.

BACKGROUND: Although individuals with vision impairment are at greater risk for depression and anxiety, there has been limited study of mental healthcare utilization among this population. OBJECTIVES: To address this gap, this pooled cross-sectional study estimates the prevalence of mental healthcare utilization among individuals with vision impairment during the COVID-19 pandemic. METHODS: We calculated adjusted relative risk ratios and 95% confidence intervals of depression and/or anxiety symptoms and mental healthcare utilization using multinomial logistic regression, accounting for demographics, social determinants of health, and survey week. The population-based, U.S. Census Bureau Household Pulse Survey was administered April 2021-March 2022. Participants included 800,935 US adults (weighted population: 174,598,530) RESULTS: Adjusting for other factors, adults with vision impairment were more likely to report depression symptoms (RRR: 2.33; 95% CI: 2.03-2.68), anxiety symptoms (RRR: 2.12; 95% CI: 1.94-2.33, and comorbid depression and anxiety symptoms (RRR: 3.77; 95% CI: 3.51-4.04) compared with individuals with no vision impairment. Among individuals reporting anxiety or depression symptoms, individuals with vision impairment (RRR: 1.46; 95% CI: 1.35-1.59) were more likely to lack of mental healthcare utilization compared with individuals with no vision impairment. CONCLUSION: Findings suggest that individuals with vision impairment are at increased risk for depression and/or anxiety symptoms and report reduced mental healthcare utilization compared with individuals without vision impairment. Additional programs and policies are needed to improve mental healthcare utilization among individuals with vision impairment and depression and/or anxiety symptoms, such as increased telehealth accessibility and coordination of behavioral health and ophthalmology services.

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis.

Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a result of defective oxidative phosphorylation caused by mitochondrial DNA mutations. The average prognosis of infants diagnosed with this disease is death within four years of age. The disease often carries an atypical presentation during the neonatal period causing this rare syndrome to be frequently misdiagnosed. The current report details the diagnosis of Pearson syndrome in a three-month-old male with a history of pancytopenia.

12-Year-Old Girl Diagnosed With Li-Fraumeni Syndrome and Concomitant Adrenocortical Carcinoma (ACC).

Adrenocortical carcinomas (ACC) are classical presentations of germline cancer predisposition syndromes such as the Li-Fraumeni syndrome (LFS). Li-Fraumeni syndrome is a multiple cancer syndrome caused by germline alterations of the tumor protein 53 (TP53) tumor suppressor gene and is often associated with ACC. If minor adrenocortical tumors (ACTs) are detected early, resection has proven to provide patients with better outcomes. However, non-functioning ACCs are particularly insidious since these patients present late and with distant metastases. We present the case of a 12-year-old female with a history of Li-Fraumeni syndrome (LFS) and a non-hormone-secreting ACC in the context of an exceedingly rare c.743G>A (p.Arg248Gln) p53 mutation.

Perivascular Epithelioid Cell Tumor (PEComa) of the Lung in a 56-Year-Old Female Patient: A Case Report.

Perivascular epithelioid cell tumors, best known as PEComas, are extremely uncommon mesenchymal tumors The etiology of PEComas remains unestablished and its clinical presentation is usually benign. PEComas lack a distinctive symptomatic presentation; thus, the diagnosis of these tumors relies mainly on pathological examinations. These neoplasms have a very distinct immunoreactivity for melanocytic markers critical for their identification. Due to the rarity of these tumors and lack of a distinct disease presentation, we discuss the diagnostic relevance of imaging and pathologic findings in a 56-year-old woman diagnosed with a PEComa in the right middle lobe of the lung.

A Case of Medullary Microcarcinoma in the Setting of Cowden's Syndrome.

Cowden's syndrome (CS) is a rare inherited condition characterized by hamartomas in various organs including the thyroid and mucocutaneous tissues as one of the most distinctive features. We present a rare case of Cowden's syndrome with medullary microcarcinoma of the thyroid, in a 56 year old male with a history of hamartomatous colon polyps, papillomas of the tongue, skin tags, learning disability in the spectrum of autism and macrocephaly. This was evident on immunohistochemical examination of a nodule in the right thyroid lobe. Calcitonin and carcinoembryonic antigen (CEA) positivity along with C-cell hyperplasia were consistent with a medullary microcarcinoma. Total thyroidectomy was performed. Post-operatively margins were uninvolved by carcinoma. Perineural and lymphatic invasion was not identified. Considering the rarity of this condition and the unique presentation of our patient we believe that reporting this case would add more information to the existing fund of knowledge.

A Four-Year-Old Female With a Rare P53 Gene Mutation Diagnosed With Li-Fraumeni Syndrome and Concomitant Metastatic Rhabdomyosarcoma: A Case Report.

Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder that often results from mutations that impair the functions of the tumor suppressor gene p53. LFS is categorized as a hereditary cancer predisposition syndrome in which patients frequently suffer from an elevated degree of onset and incidence of neoplastic malignancies. Among the different pathogenic variants of LFS, TP53 is one of the most frequently encountered ones. A four-year-old female is reported in this vignette, with a rare c.375+1G>T pathogenic variant in the TP53 gene consistent with an LFS diagnosis. To our knowledge, this is the first reported "germline" example of this variant in the literature. Initially, the patient presented to the emergency department due to concerns of progressive swelling and firmness of a mass in the patient's right abdomen. Further imaging and analysis revealed a rhabdomyosarcoma of the pelvis secondary to LFS. In addition to this, the patient's brother and mother both were positive for the same LFS mutation allowing us to make a definitive LFS diagnosis. Our patient then underwent neoadjuvant chemotherapy, radiotherapy, and eventually a resection of the main neoplastic lesion. Among pediatric LFS patients, the risk of suffering secondary and/or multiple cancers is pathologically elevated. That said, it is crucial to perform genetic analysis tests for pediatric oncology patients, especially those patients with hereditary predisposition to cancers. Considering the poor prognosis of most TP53 mutations, it is of utmost importance to implement prompt and systematic care for patients diagnosed with LFS.

Case Report of a 13-Year-Old Female With Trauma Secondary to a Fall From a Golf Cart, Found to Have Intraparenchymal & Subarachnoid Hemorrhages With Transverse Sinus Thrombosis.

Cerebral venous sinus thrombosis (CVST) is the occlusion of cerebral veins of the brain secondary to blood clot formation. These can result in increased intracranial pressure, cerebral edema, and may even have fatal consequences such as a stroke. Despite CVSTs being considered a rare pathology, these are said to have an increased incidence in the pediatric population. These individuals with CVST are often asymptomatic causing physicians to often overlook and delay possibly life-saving interventions. The current literature is lacking on CVST examples in the "older" range of the pediatric population, specifically teenagers. Here we present the case of a 13-year-old female with trauma secondary to a fall from a golf cart, who was found to have intraparenchymal and subarachnoid hemorrhages with transverse sinus thrombosis.

A Case Report on Transient Erythroblastopenia of Childhood in a Female Pediatric Patient.

Transient erythroblastopenia of childhood (TEC) is an uncommon, benign normocytic anemia of unknown etiology. It is characterized by absent or reduced erythroid precursors in otherwise normocellular bone marrow, with patients undergoing a complete spontaneous recovery. We present the case of a 12-month-old female suspected of TEC.

A Case Report on Aggressive Natural Killer Cell Leukemia in a Pediatric Patient.

Aggressive natural killer cell leukemia (ANKL) is a rare neoplastic malignancy, especially in pediatric populations with very few cases reported in the literature. It commonly presents with a rapidly declining clinical course and has a median survival of two months. We report the case of a 15-year-old female who presented with fever, hepatosplenomegaly, hemophagocytosis, and disseminated intravascular coagulation (DIC). The patient was ultimately diagnosed with ANKL but died after developing multiorgan failure and DIC prior to the initiation of any treatment. In this case report, we review and discuss the literature concerning the diagnosis and treatment of ANKL in pediatric patients.

Short-Term Autophagy Preconditioning Upregulates the Expression of COX2 and PGE2 and Alters the Immune Phenotype of Human Adipose-Derived Stem Cells In Vitro.

Human adipose-derived stem cells (hASCs) are potent modulators of inflammation and promising candidates for the treatment of inflammatory and autoimmune diseases. Strategies to improve hASC survival and immunoregulation are active areas of investigation. Autophagy, a homeostatic and stress-induced degradative pathway, plays a crucial role in hASC paracrine signaling-a primary mechanism of therapeutic action. Therefore, induction of autophagy with rapamycin (Rapa), or inhibition with 3-methyladenine (3-MA), was examined as a preconditioning strategy to enhance therapeutic efficacy. Following preconditioning, both Rapa and 3-MA-treated hASCs demonstrated preservation of stemness, as well as upregulated transcription of cyclooxygenase-2 (COX2) and interleukin-6 (IL-6). Rapa-ASCs further upregulated TNFα-stimulated gene-6 (TSG-6) and interleukin-1 beta (IL-1ß), indicating additional enhancement of immunomodulatory potential. Preconditioned cells were then stimulated with the inflammatory cytokine interferon-gamma (IFNγ) and assessed for immunomodulatory factor production. Rapa-pretreated cells, but not 3-MA-pretreated cells, further amplified COX2 and IL-6 transcripts following IFNγ exposure, and both groups upregulated secretion of prostaglandin-E2 (PGE2), the enzymatic product of COX2. These findings suggest that a 4-h Rapa preconditioning strategy may bestow the greatest improvement to hASC expression of cytokines known to promote tissue repair and regeneration and may hold promise for augmenting the therapeutic potential of hASCs for inflammation-driven pathological conditions.

Short-Term Rapamycin Preconditioning Diminishes Therapeutic Efficacy of Human Adipose-Derived Stem Cells in a Murine Model of Multiple Sclerosis.

Human adipose-derived stem cells (ASCs) show immense promise for treating inflammatory diseases, attributed primarily to their potent paracrine signaling. Previous investigations demonstrated that short-term Rapamycin preconditioning of bone marrow-derived stem cells (BMSCs) elevated secretion of prostaglandin E2, a pleiotropic molecule with therapeutic effects in the experimental autoimmune encephalomyelitis (EAE) model of multiple sclerosis (MS), and enhanced immunosuppressive capacity in vitro. However, this has yet to be examined in ASCs. The present study examined the therapeutic potential of short-term Rapamycin-preconditioned ASCs in the EAE model. Animals were treated at peak disease with control ASCs (EAE-ASCs), Rapa-preconditioned ASCs (EAE-Rapa-ASCs), or vehicle control (EAE). Results show that EAE-ASCs improved clinical disease scores and elevated intact myelin compared to both EAE and EAE-Rapa-ASC animals. These results correlated with augmented CD4+ T helper (Th) and T regulatory (Treg) cell populations in the spinal cord, and increased gene expression of interleukin-10 (IL-10), an anti-inflammatory cytokine. Conversely, EAE-Rapa-ASC mice showed no improvement in clinical disease scores, reduced myelin levels, and significantly less Th and Treg cells in the spinal cord. These findings suggest that short-term Rapamycin preconditioning reduces the therapeutic efficacy of ASCs when applied to late-stage EAE.