Probing the neurocardiac circuit in trauma and posttraumatic stress.

The neurocardiac circuit is integral to physiological regulation of threat and trauma-related responses. However, few direct investigations of brain-behavior associations with replicable physiological markers of PTSD have been conducted. The current study probed the neurocardiac circuit by examining associations among its core regions in the brain (e.g., insula, hypothalamus) and the periphery (heart rate [HR], high frequency heart rate variability [HF-HRV], and blood pressure [BP]). We sought to characterize these associations and to determine whether there were differences by PTSD status. Participants were N = 315 (64.1 % female) trauma-exposed adults enrolled from emergency departments as part of the prospective AURORA study. Participants completed a deep phenotyping session (e.g., fear conditioning, magnetic resonance imaging) two weeks after emergency department admission. Voxelwise analyses revealed several significant interactions between PTSD severity 8-weeks posttrauma and psychophysiological recordings on hypothalamic connectivity to the prefrontal cortex (PFC), insula, superior temporal sulcus, and temporoparietaloccipital junction. Among those with PTSD, diastolic BP was directly correlated with right insula-hypothalamic connectivity, whereas the reverse was found for those without PTSD. PTSD status moderated the association between systolic BP, HR, and HF-HRV and hypothalamic connectivity in the same direction. While preliminary, our findings may suggest that individuals with higher PTSD severity exhibit compensatory neural mechanisms to down-regulate autonomic imbalance. Additional study is warranted to determine how underlying mechanisms (e.g., inflammation) may disrupt the neurocardiac circuit and increase cardiometabolic disease risk in PTSD.

Granulomatous mastitis in accessory breast tissue: A rare presentation and surgical management.

Granulomatous mastitis (GM) in accessory breast tissue is rare. The present study aimed to report a rare case of GM in accessory breast tissue. A 39-year-old female patient presented with right axillary discomfort and swelling for ~5 days. On clinical examination, a tender, firm lump was detected in the right axillary region. The ultrasound showed diffuse parenchymal heterogeneity and surrounding edema in the right accessory breast associated with reactive axillary lymph nodes. Following unresponsiveness to conservative treatment, a surgical procedure was performed in the form of an excisional biopsy and the lesion was diagnosed as GM. During the six-month follow-up, there were no recurrences. The exact cause of GM remains uncertain and the etiology within accessory breast tissue is even less understood. Proposed mechanisms suggest that it may result from an exaggerated immune response triggered by various factors, such as infection, autoimmunity or hormonal fluctuations. GM in accessory breast tissue is a rare and challenging clinical condition to be diagnosed. Due to the rarity of this condition, it highlights the importance of including GM in the differential diagnosis of axillary masses.

Granulomatous mastitis masking ductal carcinoma in situ: A case report with literature review.

Granulomatous mastitis (GM) is a rare inflammatory disorder that infrequently occurs with synchronous breast carcinoma. The present study reports the case of a patient who was initially diagnosed with recurrent GM, which eventually proved to be masking an underlying ductal carcinoma in situ (DCIS). A 30-year-old female presented with left breast pain. On clinical examination, there was a large, palpable and painful lump in the left breast, with axillary lymphadenopathy. Initially, the diagnosis was GM and conservative treatment was applied. Surgical resection was decided upon for the condition after it became recurrent, and the histopathological examination revealed extensive DCIS with GM. Later on, the patient underwent a mastectomy with an axillary sentinel lymph node biopsy. The postoperative follow-up was uneventful. In conclusion, tissue diagnosis has a key role in detecting DCIS masked by GM, especially in young females who are not undergoing regular mammogram screening. The present study shows the challenge that the specialists in this field may face when dealing with recurrent GM of the breast, and warns them to search for a second pathology such as the DCIS presented in the current case.

Management of Idiopathic Granulomatous Mastitis: A Single Institution Experience.

Introduction: There are multiple management modalities for idiopathic granulomatous mastitis, but the treatment of choice is still under debate. This study aims to evaluate the diagnosis and outcomes of different management modalities in patients with idiopathic granulomatous mastitis and to identify the risk factors associated with recurrence. Method: This is a single-group cohort study that included those patients who had idiopathic granulomatous mastitis. Ultrasonography was conducted for all of the cases using LOGIQ E9 with an ML6-15 transducer (5-15 MHz). A core needle biopsy was conducted to take samples from the cases for histopathological examination. The patients were put on steroid therapy. Whenever the cases did not respond to the steroid therapy, treatment with a combination of low-dose steroids and methotrexate was started. In the lack of response to conservative treatments, surgical interventions were started. Results: Sixty-three cases with a confirmed histopathological diagnosis of granulomatous mastitis were included. The mean age of patients was 35.7 years. The history of more than one childbirth was positive in a large portion of the cases (82.5%). The lesion side was unilateral in 58.7% of the cases. A large proportion of the lesions were classified as BIRADS category 2. The best treatment outcome was yielded by a combination of low-dose steroids and incision and drainage. The factors of age, lesion area (cm2), skin thickening, and white blood cell count enhanced the chance of recurrence. Conclusion: Incision and drainage in combination with a low dose of steroids can give an acceptable outcome with a low rate of recurrence.

Prevalence of Shoulder and Neck Pain Among Healthcare Workers in the Central Region of Saudi Arabia.

Introduction Musculoskeletal disorders (MSDs) have a tremendous impact on working people and are becoming a serious problem in the modern society. The healthcare system is regarded as having one of the most physically demanding jobs, and the risk of musculoskeletal injuries is high. Irrespective of their age, healthcare workers (HCWs) worldwide frequently experience shoulder and neck pain. In our study, we sought to understand what initiates shoulder and neck pain, such as stress or environmental factors, and what causes shoulder and neck discomfort among Saudi Arabian healthcare professionals. Methods A descriptive, cross-sectional study was conducted from 2022 to 2023, assessing shoulder and neck pain among healthcare workers in the central region of Saudi Arabia. An online survey was used, with 409 participants aged 20 or older. The questionnaire included socio-demographic data, Shoulder Pain and Disability Index (SPADI) questionnaire to measure shoulder pain and disability, neck Bournemouth questionnaire (NBQ) to assess neck pain, and quadruple visual analogue scale (QVAS) to measure the intensity of pain. Results Of the 409 HCWs, 56% were males, and 56.5% belonged to the age group of 20-30 years. The prevalence of high-intensity pain based on QVAS criteria was 29.3%. The mean percentage of neck pain (32.3%) was slightly higher than shoulder pain (31.8%). There was a significant association between the level of pain intensity in terms of the total score of NBQ, SPADI score, and its dimensions. It is interesting to know that HCWs with associated chronic diseases had higher scores in all three questionnaires (NBQ, SPADI, and QVAS). Conclusion High-intensity musculoskeletal pain was relatively high among HCWs. It was found that neck pain affected HCWs more than shoulder pain. Furthermore, an increased pain intensity in the shoulder and neck was more frequently seen in HCWs with chronic diseases. More studies are needed to determine the causes and risk factors for neck and shoulder pain to help improve the healthcare system and patient care.

The Impact of COVID-19 on Preterm Birth Among Pregnant Women in Al-Qassim, Saudi Arabia.

BACKGROUND: Pregnant women are regarded as a unique group due to the distinct immunological condition that pregnancy produces, which makes pregnant women more susceptible to respiratory infections like coronavirus disease 2019 (COVID-19) and its consequences. During pregnancy, many viral infections have been recognized to increase the risk of adverse obstetrical outcomes such as preterm delivery. The purpose of this study was to investigate the effects of COVID-19 infection on preterm birth in pregnant women in the Al-Qassim region of Saudi Arabia. METHODS:  This retrospective cohort study was conducted in Saudi Arabia between December 2019 to October 2021. The target subjects were pregnant women with live singleton gestations who underwent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) polymerase chain reaction (PCR) testing for COVID-19 infection during their delivery hospitalization. Data gathered included patient demographic information, clinical characteristics, and pregnancy outcomes. Data were analyzed using R version 4.1.1 (R Core Team (2021); R Foundation for Statistical Computing, Vienna, Austria). RESULTS:  A total of 381 pregnant women were included. The median maternal age of women was 31.0 years (IQR: 27.0, 35.0) and the median BMI value was 30.5 kg/m2 (IQR: 26.9, 34.8). The most common comorbidities were diabetes (7.1%) and asthma (4.5%). A known history of preterm birth was prevalent among 2.9%. Of the participants, 13.6% had a prenatal COVID-19 infection, of whom 57.7% had their infections resolved. The prevalence of positive PCR testing was 13.6%. Preterm birth occurred in 46 women (12.1%, 95%CI 9.1-15.9). Preterm birth was significantly associated with having a maternal age of ≥35 years, having high frequencies of parity, and having a past history of preterm birth, as well as having a history of hypertension and diabetes. Preterm birth was not significantly associated with having a confirmed COVID-19 infection at delivery. CONCLUSION: It was shown that preterm birth is evident among women with COVID-19 infection. Preterm birth is significantly associated with old age, multiparity, and a history of preterm delivery. Preterm birth is not significantly associated with having a confirmed COVID-19 infection at delivery. More research regarding infection-related adverse effects is advised and should be highlighted.

Clinical, microbiological, immunological and hormonal profiles of patients with granulomatous mastitis.

Various studies on the etiology and other aspects of granulomatous mastitis (GM) have been performed; however, a lot of controversies have arisen. The present study aimed to present the clinicopathological findings and identify the sensitivity and resistance of isolated bacteria in patients with GM. In this cross-sectional study 63 female patients with a confirmed histopathological diagnosis of GM were included. A core needle biopsy was conducted for the patients to obtain a sample for histopathological examination and bacterial culture. In total, 46 types of antibiotics were used to determine the sensitivity and resistance of each isolated bacterial species. All the medical and clinical records of the patients were acquired through the completion of a questionnaire form in person or, if necessary, through the evaluation of their medical records in the database of the relevant center. The majority of the patients were in the premenopausal or perimenopausal period. GM was unilateral in 58.7% of the patients. The most common symptom was pain, followed by fever and chills. The mean ranges of the erythrocyte sedimentation rate, C-reactive protein, IL-6, IL-17, C5a, white blood count, neutrophil-to-lymphocyte ratio, and prolactin tests were significantly elevated in comparison to the normal ranges. In total, nine different bacterial species were isolated from the bacterial culture of the core biopsy samples, and 50% of the isolated bacterial species were sensitive to trimethoprim-sulfamethoxazole. Since there is no consensus on the etiology of GM, any additional studies related to this aspect expand the current understanding of this puzzling condition.

The Prevalence of Inguinal Hernia Among Athletes in Saudi Arabia: A Cross-Sectional Study.

Introduction An inguinal hernia is the most common type of hernia. It might manifest as a groin bulge, lump, or enlarged scrotum. Swelling may be uncomfortable and painful and even cause intestinal obstruction. This study aimed to measure the prevalence of inguinal hernia among athletes in Saudi Arabia. Subject and methods This is a cross-sectional study conducted among Saudi Arabian athletes. A self-administered questionnaire was distributed among athletes using an online survey through different Saudi Olympic Training and Fitness Centers throughout the kingdom. The questionnaire includes sociodemographic characteristics (i.e. age, gender, etc.), risk factors, and complications of inguinal hernia. Results Of the 594 athletes, 55.6% were females and 57.6% were aged between 18 and 24 years. The most common type of sport was running (31%). The most common risk factor for inguinal hernia was previous abdominal surgery (57.5%). The prevalence of inguinal hernia among Saudi athletes was 12.3%. Being older in age and being male were the independent significant predictors associated with increased risk for inguinal hernia, whereas weightlifting was the independent significant factor of decreased risk for inguinal hernia. Conclusion The prevalence of inguinal hernia among athletes was 12.3%. Older male athletes were most likely at a greater risk to suffer from inguinal hernia as compared to the rest of the athletes. Further research is needed to extract more data about the prevalence of inguinal hernia among Saudi Arabian athletes and determine its risk factors.

Structural inequities contribute to racial/ethnic differences in neurophysiological tone, but not threat reactivity, after trauma exposure.

Considerable racial/ethnic disparities persist in exposure to life stressors and socioeconomic resources that can directly affect threat neurocircuitry, particularly the amygdala, that partially mediates susceptibility to adverse posttraumatic outcomes. Limited work to date, however, has investigated potential racial/ethnic variability in amygdala reactivity or connectivity that may in turn be related to outcomes such as post-traumatic stress disorder (PTSD). Participants from the AURORA study (n = 283), a multisite longitudinal study of trauma outcomes, completed functional magnetic resonance imaging and psychophysiology within approximately two-weeks of trauma exposure. Seed-based amygdala connectivity and amygdala reactivity during passive viewing of fearful and neutral faces were assessed during fMRI. Physiological activity was assessed during Pavlovian threat conditioning. Participants also reported the severity of posttraumatic symptoms 3 and 6 months after trauma. Black individuals showed lower baseline skin conductance levels and startle compared to White individuals, but no differences were observed in physiological reactions to threat. Further, Hispanic and Black participants showed greater amygdala connectivity to regions including the dorsolateral prefrontal cortex (PFC), dorsal anterior cingulate cortex, insula, and cerebellum compared to White participants. No differences were observed in amygdala reactivity to threat. Amygdala connectivity was associated with 3-month PTSD symptoms, but the associations differed by racial/ethnic group and were partly driven by group differences in structural inequities. The present findings suggest variability in tonic neurophysiological arousal in the early aftermath of trauma between racial/ethnic groups, driven by structural inequality, impacts neural processes that mediate susceptibility to later PTSD symptoms.

Long-Term Follow-Up on Morbidity Among Women With a History of Gestational Diabetes Mellitus: A Systematic Review.

BACKGROUND: Gestational diabetes mellitus (GDM) complicates up to 10% of pregnancies and is a well-known risk factor for type 2 diabetes mellitus (T2DM) and cardiovascular disease. Little is known about possible long-term risks of other diseases. BACKGROUND: The aim was to review the literature for evidence of associations with morbidity other than T2DM and cardiovascular disease and with long-term mortality. METHODS: A systematic review based on searches in Medline, Embase, and Cochrane Library until March 31, 2021, using a broad range of keywords. We extracted study characteristics and results on associations between GDM and disease occurrence at least 10 years postpartum, excluding studies on women with diabetes prior to pregnancy or only diabetes prior to outcome. The results are reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Newcastle-Ottawa Scale was used to assess risk of bias. RESULTS: We screened 3084 titles, 81 articles were assessed full-text, and 15 included in the review. The strongest evidence for an association was for kidney diseases, particularly in Black women. We found indication of an association with liver disease, possibly restricted to women with T2DM postpartum. The association between GDM and breast cancer had been studied extensively, but in most cases based on self-reported diagnosis and with conflicting results. Only sparse and inconsistent results were found for other cancers. No study on thyroid diseases was found, and no study reported on short-term or long-term mortality in women with a history of GDM. CONCLUSION: Given the frequency of GDM, there is a need for better evidence on possible long-term health consequences, in particular, studies based on comprehensive records of diagnosis of GDM and long-term health outcomes.

Fibroadenoma in axillary accessory breast mimicking carcinoma of unknown primary; a case report with literature review.

INTRODUCTION: Accessory breast (AB) is extra and ectopic breast tissue. Fibroadenoma (FA) in AB is a rare finding. This study aims to present a case of FA in axillary AB mimicking carcinoma of unknown primary (CUP). CASE REPORT: A 38-year-old female presented with a mass in her right axilla. She had a mass in her right breast for 5 years. She previously had a left breast lumpectomy for a benign condition. The lump in her axilla was palpable and hard. Ultrasound showed an oval lymph node in the level I axilla (12*6mm) with blurred and unclear fatty hilum, suspicious for malignancy. Magnetic resonance imaging revealed an oval lesion (12*7mm) in the level I axilla with no fatty hilum and with heterogeneous enhancements, suggesting abnormal nodes. Fine needle aspiration of the axillary mass suspected CUP. But core biopsy resembled FA. Both masses in the right axilla and breast were surgically excised. Histopathology confirmed FA in both masses. DISCUSSION: Although pathologies in AB are uncommon, it is still susceptible to the same malignant and benign transformations that are found in normal breasts. The axilla is the most frequent location for FA in AB and often affects young women. Imaging techniques can be inconclusive and only histopathology can conclude a definitive diagnosis. CONCLUSION: FA in axillary AB is a rare condition that causes a diagnostic dilemma as it can be mistaken for other benign or malignant pathologies.

The impact of the COVID-19 pandemic on U.S. orthodontic practices in 2020.

INTRODUCTION: This study aimed to investigate the immediate impact and long-term implications of severe acute respiratory syndrome coronavirus on orthodontic practices in the United States in 2020. METHODS: A 35-item survey was developed and validated to investigate the impact of the coronavirus disease (COVID-19) pandemic on the orthodontic specialty. The survey contained 5 domains, including respondent's demographic information, COVID-19 information acquisition, practice ramifications of the COVID-19 pandemic, financial implications of the COVID-19 pandemic, and patient management strategies during the COVID-19 pandemic. This voluntary survey acquired responses from active orthodontists in the United States. Associations of demographic and practice characteristics with items related to COVID-19 were assessed using chi-square tests, with a 5% significance level. RESULTS: The survey was disseminated to 5,694 orthodontists, and 507 complete surveys were obtained (response rate of 8.9%). Respondents indicated that they obtained the most useful information regarding the COVID-19 pandemic through professional associations and internet or online news resources. However, 30% of the orthodontists believed information regarding personal financial guidelines was lacking. Most respondents identified delayed treatment progress and temporary staff layoffs as the 2 most negative ramifications of mandated office closures. Approximately 93% of practices applied for and used some sort of stimulus funding offered through the Coronavirus Aid, Relief, and Economic Security Act. Respondents indicated that the COVID-19 related office closures resulted in an average of 50% decrease in net revenue. CONCLUSIONS: The survey found that the COVID-19 pandemic had a broad and significant impact on patient care and financial aspects of U.S. orthodontic practices in 2020. Although generally accepting of the federal and state recommendations, respondents appeared to desire more guidance during the early phase of the pandemic.

Primary lymphedema of breast, a case report.

INTRODUCTION: Lymphedema affects the extremities of breast cancer patients post-surgical or radiation therapy. This study aims to report a case of primary lymphedema of breast. CASE PRESENTATION: A 41-year-old female presented with right breast swelling. It associated with hotness and intermittent mastalgia for the past 8 years. Ultrasound (US) examination showed diffuse trabeculate, skin thickening and edematous with normal glandular tissue. Magnetic resonance imaging (MRI) showed diffuse homogeneous parenchymal enhancements with diffuse tranecular and skin edema (high signal on Short-TI Inversion Recovery (STIR)). The result of the biopsy showed normal breast tissue and lymph node. DISCUSSION: The major risk factors of lymphedema are breast cancer surgery, radiation therapy, axillary lymph node dissection, length and location of breast incision, taking biopsy, trauma, wound infection. Forearm is the most common site of swelling. Primary lymphedema of the breast is a very rare condition without a known risk factor. CONCLUSION: Although it is rare, primary lymphedema can affect the breast. US and MRI are necessary to exclude other pathologies. It is managed conservatively.

Desmoid fibromatosis of the breast; a rare case report.

INTRODUCTION: Desmoid tumor is an uncommon tumor with variable spectrum ranged from being a locally lesion to an aggressive and destructive one. The current case aims to report a rare condition of desmoid type fibromatosis of the breast. PRESENTATION OF CASE: A 59-year-old female presented with a right breast mass for 9-months. Mammography showed a small speculated iso-hyper dense mass, just anterior to the pectoralis muscle measuring about 15 mm (M5) in longest axis. Ultrasound examination revealed an irregular mass with internal vascularity and posterior shadowing in the right breast with a single borderline lymph node (25 ∗ 14 mm of 4 mm cortex). Wide local excision with sentinel axillary lymph nodes biopsy was performed. Histopathological examination of the specimen confirmed the diagnosis of desmoid type fibromatosis of the breast. DISCUSSION: The etiology of this tumor is unknown, however, physical, hormonal and genetic factors have a significant role in the development of desmoid tumor. CONCLUSION: Desmid type fibromatosis of the breast is an uncommon, benign, locally aggressive fibroblastic tumor with lack of metastatic potential, it may present with features of malignancy.

Intermammary breast cancer; the first reported case.

INTRODUCTION: Cancer of the breast is the most common cancer among females. The current study aims to report and discuss a rare case of breast cancer in the intermammary region. CASE REPORT: A 61-year-old lady presented with intermammary swelling for three months. Ultrasound examination showed a hypoechoic micro lobulated mass with internal vascularity seated on the chest wall. There was pathological lymphnodes in the right axilla. Core needle biopsy suspected invasive ductal carcinoma of no specific type. The patient was referred to an oncology center receiving 21 cycles of radiotherapy and hormonal therapy. DISCUSSION: The most common site of the occurrence of breast cancer is the upper outer quadrant (found in one-third of patients), followed by the upper inner quadrant (9.4%)-both lower outer and inner quadrants (5.2%) and rarely in the central portion. Intermammary breast cancer is an infrequent finding. CONCLUSION: Although it is extremely rare, breast cancer could occur in the intermammary region. It has the same management strategy as breast cancer.

Performance of crossbred lactating cows at grazing in response to nitrogen supplementation and different levels of concentrate feed / Desempenho de vacas mestiças leiteiras a pasto em resposta à suplementação nitrogenada e a diferentes níveis de concentrado

The performance of crossbred (1/2 Holstein x Zebu) cows supplemented on Brachiaria decumbens pasture during the wet-dry transition period was evaluated. Eight cows with 497±50kg, during third and fourth lactations and after the lactation peak were distributed in two 4 x 4 Latin squares. The treatments consisted of a factorial with two types of mineral supplements (nitrogenous and mineral salt) and two levels of concentrate (0.3 and 0.6% body weight (BW)/cow/day), based on corn and soybean meal (60:40), and supplied during the morning and afternoon milking. The experiment lasted 56 days, divided into four periods of 14 days, with seven days for adaptation and seven for data collection. No interaction (P> 0.05) was observed between the supplements and the concentrate levels. The nitrogenous salt and the highest concentrate level increased (P< 0.05) the intake of crude protein, and the highest concentrate level increased (P< 0.05) the intake of non-fibrous carbohydrates and the digestibility of crude protein. No effect (P> 0.05) of supplement and concentrate level was observed on the milk constituents and feed efficiency. Grazing crossbred after the lactation peak during the wet-dry transition period achieve the productive potential with 0.3% BW of concentrate per day and mineral salt.(AU)

Foi avaliado o desempenho de vacas mestiças (1/2 Holandês x Zebu) suplementadas em pastagens de Brachiaria decumbens durante o período de transição águas-seca. Oito vacas com 497±50kg, durante a terceira e a quarta lactação e após o pico de produção, foram distribuídas em dois quadrados latinos 4 x 4. Os tratamentos consistiram de um fatorial com dois tipos de suplementos (sal nitrogenado e sal mineral) e dois níveis de concentrado (0,3 e 0,6% do peso corporal (PC)/vaca/dia), baseado em milho e farelo de soja (60:40) e suprido durante as ordenhas da manhã e da tarde. O experimento durou 56 dias, divididos em quatro períodos de 14 dias, sendo sete dias para adaptação e sete para coletas. Não foi encontrada interação (P>0,05) entre os suplementos e os níveis de concentrado. O sal nitrogenado e o maior nível de concentrado aumentaram (P<0,05) o consumo de proteína bruta, e o maior nível de concentrado aumentou (P<0,05) o consumo de carboidratos não fibrosos e a digestibilidade da proteína bruta. Não foi observado efeito (P>0,05) de suplemento e de nível de concentrado sobre os componentes do leite e a eficiência alimentar. Vacas mestiças após o pico de lactação durante o período de transição águas-seca alcançam seu potencial produtivo com 0,3% do PC/dia de concentrado e sal mineral.(AU)

Variations Within Normal Hearing Acuity and Speech Comprehension: An Exploratory Study.

Purpose Many young adults with a mild hearing loss can appear unaware or unconcerned about their loss or its potential effects. A question that has not been raised in prior research is whether slight variability, even within the range of clinically normal hearing, may have a detrimental effect on comprehension of spoken sentences, especially when attempting to understand the meaning of sentences that offer an additional cognitive challenge. The purpose of this study was to address this question. Method An exploratory analysis was conducted on data from 3 published studies that included young adults, ages 18 to 29 years, with audiometrically normal hearing acuity (pure-tone average < 15 dB HL) tested for comprehension of sentences that conveyed the sentence meaning with simpler or more complex linguistic structures. A product-moment correlation was conducted between individuals' hearing acuity and their comprehension accuracy. Results A significant correlation appeared between hearing acuity and comprehension accuracy for syntactically complex sentences, but not for sentences with a simpler syntactic structure. Partial correlations confirmed this relationship to hold independent of participant age within this relatively narrow age range. Conclusion These findings suggest that slight elevations in hearing thresholds, even among young adults who pass a screen for normal hearing, can affect comprehension accuracy for spoken sentences when combined with cognitive demands imposed by sentences that convey their meaning with a complex linguistic structure. These findings support limited resource models of attentional allocation and argue for routine baseline hearing evaluations of young adults with current age-normal hearing acuity.

Human iPSC-Derived Retinal Pigment Epithelium: A Model System for Prioritizing and Functionally Characterizing Causal Variants at AMD Risk Loci.

We evaluate whether human induced pluripotent stem cell-derived retinal pigment epithelium (iPSC-RPE) cells can be used to prioritize and functionally characterize causal variants at age-related macular degeneration (AMD) risk loci. We generated iPSC-RPE from six subjects and show that they have morphological and molecular characteristics similar to those of native RPE. We generated RNA-seq, ATAC-seq, and H3K27ac ChIP-seq data and observed high similarity in gene expression and enriched transcription factor motif profiles between iPSC-RPE and human fetal RPE. We performed fine mapping of AMD risk loci by integrating molecular data from the iPSC-RPE, adult retina, and adult RPE, which identified rs943080 as the probable causal variant at VEGFA. We show that rs943080 is associated with altered chromatin accessibility of a distal ATAC-seq peak, decreased overall gene expression of VEGFA, and allele-specific expression of a non-coding transcript. Our study thus provides a potential mechanism underlying the association of the VEGFA locus with AMD.

The possible role of brain rhythms in perceiving fast speech: Evidence from adult aging.

The rhythms of speech and the time scales of linguistic units (e.g., syllables) correspond remarkably to cortical oscillations. Previous research has demonstrated that in young adults, the intelligibility of time-compressed speech can be rescued by "repackaging" the speech signal through the regular insertion of silent gaps to restore correspondence to the theta oscillator. This experiment tested whether this same phenomenon can be demonstrated in older adults, who show age-related changes in cortical oscillations. The results demonstrated a similar phenomenon for older adults, but that the "rescue point" of repackaging is shifted, consistent with a slowing of theta oscillations.

Rare genetic diseases: update on diagnosis, treatment and online resources.

Rare genetic diseases collectively impact a significant portion of the world's population. For many diseases there is limited information available, and clinicians can find difficulty in differentiating between clinically similar conditions. This leads to problems in genetic counseling and patient treatment. The biomedical market is affected because pharmaceutical and biotechnology industries do not see advantages in addressing rare disease treatments, or because the cost of the treatments is too high. By contrast, technological advances including DNA sequencing and analysis, together with computer-aided tools and online resources, are allowing a more thorough understanding of rare disorders. Here, we discuss how the collection of various types of information together with the use of new technologies is facilitating diagnosis and, consequently, treatment of rare diseases.