European central hypoventilation syndrome consortium description of congenital central hypoventilation syndrome neonatal onset.

Unlabelled: It is known that in most cases of congenital central hypoventilation syndrome (CCHS), apnoeas and hypoventilation occur at birth. Nevertheless, a detailed description of initial symptoms, including pregnancy events and diagnostic tests performed, is warranted in infants with neonatal onset of CCHS, that is, in the first month of life. The European Central Hypoventilation Syndrome Consortium created an online patient registry from which 97 infants (44 females) with CCHS of neonatal onset and PHOX2B mutation from 10 countries were selected.

The current state and future direction of childcare for cancer patients: a narrative review.

Purpose: One in four patients diagnosed with cancer are parents to dependent children. For these patients, childcare services are needed to overcome the time demands of cancer treatment. Despite the childcare support needs and its potential impact on treatment outcomes, targeted childcare services for cancer patients remain limited.

Functional characterization of novel anti-DEFA5 monoclonal antibody clones 1A8 and 4F5 in inflammatory bowel disease colitis tissues.

Background: The aberrant expression of α defensin 5 (DEFA5) protein in colonic inflammatory bowel diseases (IBDs) underlies the distinct pathogenesis of Crohn's colitis (CC). It can serve as a biomarker for differentiating CC from Ulcerative colitis (UC), particularly in Indeterminate colitis (IC) cases into UC and CC. We evaluated the specificity of commercially available anti-DEFA5 antibodies, emphasizing the need to further validate their appropriateness for a given application and highlighting the necessity for novel antibodies.

Artificial intelligence for segmentation and classification in lumbar spinal stenosis: an overview of current methods.

Purpose: Lumbar spinal stenosis (LSS) is a frequently occurring condition defined by narrowing of the spinal or nerve root canal due to degenerative changes. Physicians use MRI scans to determine the severity of stenosis, occasionally complementing it with X-ray or CT scans during the diagnostic work-up. However, manual grading of stenosis is time-consuming and induces inter-reader variability as a standardized grading system is lacking.

First branchial cleft anomalies in children: long-term outcome in 16 patients.

Introduction: First branchial cleft anomalies (FBCA) are rare congenital head and neck malformations, often subject to incorrect diagnosis and treatment. We present our experience with FBCA, focusing on clinical presentation, diagnosis, perioperative relation to the facial nerve, surgical approach, complications and patient satisfaction.

Methods: A consecutive cohort of 16 patients undergoing surgical treatment for FBCA between 1999 and 2021 was analyzed.

Medications That May be Contributing to Your Patient's Weight Gain.

Nearly 42% of adults in the United States are considered obese. Although there are a number of contributing factors to obesity, one sometimes overlooked contributor to weight gain is medications. Within many classes of medications that may affect weight, the degree of weight gain varies.

Increasing Communication about Fall Risk and Prevention between Internal Medicine Residents and Older Adults.

Objectives: More than one in four older adults fall yearly, but fewer than half inform their doctors. As such, medical trainees must gain experience assessing fall risk in older adults. Studies exploring how often residents initiate these assessments and which interventions effectively increase this frequency are needed.

What Physicians Should Consider When Moving Academic Institutions.

There is limited information and guidance for physicians transitioning from one academic institution to another. The following recommendations serve as a resource for academic faculty interested in moving to a different academic institution. The advice falls into three categories of preparation: self-reflection and discernment to determine personal preferences and professional priorities; considerations when preparing for an academic faculty interview; and aspects of the offer, opportunity, and negotiables to discern whether it is right.

Alpelisib-Induced Hyperglycemia in Breast Cancer Patients.

Alpelisib is a phosphatidylinositol 3-kinase inhibitor approved by the US Food and Drug Administration for the treatment of hormone receptor-positive metastatic breast cancer with (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit α) mutation. In recent years a number of adverse effects have been observed to be associated with this therapy, the most notable of which is hyperglycemia. A literature search was conducted to include case studies, case series, systematic reviews, and meta-analyses within the last 10 years that evaluated patients with mutated hormone receptor-positive, human epidermal growth factor receptor 2 negative metastatic breast cancer.

Maternal and Infant Outcomes in a Subset of Patients with Sickle Cell Disease in South Carolina.

Objectives: Sickle cell disease (SCD), which disproportionately affects minorities, increases complications during pregnancy. Severe maternal mortality is increased in women with SCD, including morbidity related to the disease and other nondisease-related complications. It also can have devastating complications for fetuses, with increases in premature birth and low birth weight.

FAP-targeted PET/CT imaging in patients with breast cancer from a prospective bi-center study: insights into diagnosis and clinic management.

Purpose: To evaluate the diagnostic accuracy and clinical impact of fibroblast activation protein (FAP)-targeted PET/CT imaging in primary and metastatic breast cancer and compare the results with those of standard-of-care imaging (SCI) and [F]FDG PET/CT.

Methods: We prospectively analyzed patients with diagnosed or suspected breast cancer who underwent concomitant FAP-targeted PET/CT (radiotracers including either [Ga]Ga-FAPI-46 or [F]FAPI-42) and [F]FDG PET/CT scans from June 2020 to January 2024 at two medical centers. Breast ultrasound (US) imaging was performed in all treatment-naïve patients as SCI.

One-day dual-tracer examination in neuroendocrine neoplasms: a real advantage of low activity LAFOV PET imaging.

Purpose: Somatostatin receptor (SSTR)-PET is crucial for effective treatment stratification of neuroendocrine neoplasms (NENs). In highly proliferating or poorly differentiated NENs, dual-tracer approaches using additional [F]FDG PET can effectively identify SSTR-negative disease, usually requiring separate imaging sessions. We evaluated the feasibility of a one-day dual-tracer imaging protocol with a low activity [F]FDG PET followed by an SSTR-PET using the recently introduced [F]SiFAlin-TATE tracer in a long axial field-of-view (LAFOV) PET/CT scanner and its implications in patient management.

An explainable transformer model integrating PET and tabular data for histologic grading and prognosis of follicular lymphoma: a multi-institutional digital biopsy study.

Background: Pathological grade is a critical determinant of clinical outcomes and decision-making of follicular lymphoma (FL). This study aimed to develop a deep learning model as a digital biopsy for the non-invasive identification of FL grade.

Methods: This study retrospectively included 513 FL patients from five independent hospital centers, randomly divided into training, internal validation, and external validation cohorts.

The impact of updated imaging software on the performance of machine learning models for breast cancer diagnosis: a multi-center, retrospective study.

Purpose: Artificial Intelligence models based on medical (imaging) data are increasingly developed. However, the imaging software on which the original data is generated is frequently updated. The impact of updated imaging software on the performance of AI models is unclear.

Comparisons among radiologist, MR findings and radiomics-clinical models in predicting placenta accreta spectrum disorders: a multicenter study.

Objective: To assess and compare the diagnostic accuracy of radiologist, MR findings, and radiomics-clinical models in the diagnosis of placental implantation disorders.

Methods: Retrospective collection of MR images from patients suspected of having placenta accreta spectrum (PAS) was conducted across three institutions: Institution I (n = 505), Institution II (n = 67), and Institution III (n = 58). Data from Institution I were utilized to form a training set, while data from Institutions II and III served as an external test set.

Postoperative abdominopelvic adhesion and umbilical wound validation after single-port laparoscopy or two-port laparoscopy for gynecological surgery: a comparison with conventional laparoscopy.

Purpose: The emergence of minimally invasive surgery has led to the development of laparoscopic surgery to reduce the number of ports. Although the incision for the umbilical port is sufficiently large, thus reducing the number of ports used during laparoscopic surgery, postoperative complications involving incisions at port sites have been reported. Thus, we analyzed postoperative intraperitoneal outcomes after laparoscopy by reviewing operation records and photographs of consecutive surgeries.

Past and future in vitro and in vivo approaches toward circulating factors and biomarkers in idiopathic nephrotic syndrome.

Predicting the risks of progression to chronic kidney disease (CKD) stage 5 in idiopathic nephrotic syndrome (NS) and recurrence of the disease (rNS) following kidney transplantation (KT) is a key assessment to provide essential management information. NS has been categorized etiologically as genetic and immune-based. A genetic cause can be identified in ~ 30% of children with steroid-resistant NS (SRNS), a finding associated with a very low risk of rNS following KT.

Recent progress in xenotransplantation and its application to pediatric kidney disease.

Patients with kidney failure require dialysis or kidney transplantation. Kidney transplantation offers great benefits, including reduced mortality; however, many patients who wish to undergo kidney transplantation are unable to do so due to a shortage of donor organs. This shortage is a global issue, and xenotransplantation has emerged as a potential solution.

Distinct Aggregation Behavior of -Terminally Truncated Aβ Over Aβ in the Presence of Zn(II).

The deposition of amyloid-β (Aβ) aggregates and metal ions within senile plaques is a hallmark of Alzheimer's disease (AD). Among the modifications observed in Aβ peptides, -terminal truncation at Phe4, yielding Aβ, is highly prevalent in AD-affected brains and significantly alters Aβ's metal-binding and aggregation profiles. Despite the abundance of Zn(II) in senile plaques, its impact on the aggregation and toxicity of Aβ remains unexplored.

Efficacy and Tolerance of the Tampsec Vaginal Tampon for Treating Stress Urinary Incontinence. A Randomized Controlled Trial.

Introduction And Hypothesis: Stress urinary incontinence (SUI) is a highly prevalent condition in women. We hypothesized that the Tampsec™ vaginal tampon will be efficacious and well tolerated in its treatment.

Methods: This was a multicenter open-label parallel-group randomized control trial.

The Effect of Health Fatalism and Health-Seeking Behaviors on the Frequency of Non-Medication Coping Strategy Use in Women with Urinary Incontinence in Türkiye.

Introduction And Hypothesis: Health-seeking behavior is habitual among people in a society, resulting from the interaction and balance between health needs, health resources, and socioeconomic factors. This study seeks to investigate the influence of health fatalism and health-seeking behaviors on the frequency of non-medication coping strategy use among women with urinary incontinence in Türkiye.

Methods: This cross-sectional study was conducted between 8 August 2024, and 22 September 2024.

Infection-Related Hospitalization and Incident Heart Failure: The Atherosclerosis Risk in Communities Study.

Background: The immune response to infections may become dysregulated and promote myocardial damage contributing to heart failure (HF). We examined the relationship between infection-related hospitalization (IRH) and HF, HF with preserved ejection fraction, and HF with reduced ejection fraction.

Methods And Results: We studied 14 468 adults aged 45 to 64 years in the ARIC (Atherosclerosis Risk in Communities) Study who were HF free at visit 1 (1987-1989).