Nodal Burden and Oncologic Outcomes in Patients With Residual Isolated Tumor Cells After Neoadjuvant Chemotherapy (ypN0i+): The OPBC-05/ICARO Study.

Purpose: The nodal burden of patients with residual isolated tumor cells (ITCs) in the sentinel lymph nodes (SLNs) after neoadjuvant chemotherapy (NAC) (ypN0i+) is unknown, and axillary management is not standardized. We investigated rates of additional positive lymph nodes (LNs) at axillary lymph node dissection (ALND) and oncologic outcomes in patients with ypN0i+ treated with and without ALND.

Methods: The Oncoplastic Breast Consortium-05/ICARO cohort study (ClinicalTrials.

Extracellular Vesicle DNA Extraction and Sequencing in Ancient Serum Samples From Patients With Breast Cancer.

Background/aim: Extracellular vesicle DNA (EV-DNA) has emerged as a novel biomarker for tumor mutation detection using liquid biopsies, exhibiting biological advantages compared to cell-free DNA (cfDNA). This study assessed the feasibility of EV-DNA and cfDNA extraction and sequencing in old serum samples of patients with breast cancer (BC).

Patients And Methods: A total of 28 serum samples of 27 patients with corresponding clinical information were collected between 1983 and 1991.

Association of relative resection volume with patient-reported outcomes applying different levels of oncoplastic breast conserving surgery - A retrospective cohort study.

Introduction: The American Society of Breast Surgeons (ASBrS) recently classified oncoplastic breast conserving surgery (OBCS) into two levels. The association of resection ratio during OBCS with patient-reported outcomes (PRO) is unclear.

Materials And Methods: Patients with stage 0-III breast cancer undergoing OBCS between 01/2011-04/2023 at a Swiss university hospital, who completed at least one postoperative BREAST-Q PRO questionnaire were identified from a prospectively maintained institutional database.

Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.

The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate genome-wide association study on 3D cranial vault shape extracted from magnetic resonance images of 6772 children from the ABCD study cohort yielding 30 genome-wide significant loci. Follow-up analyses indicate that these loci overlap with genomic risk loci for sagittal craniosynostosis, show elevated activity cranial neural crest cells, are enriched for processes related to skeletal development, and are shared with the face and brain.

Use of sentinel lymph node biopsy in elderly patients with breast cancer - 10-year experience from a Swiss university hospital.

Background: The Choosing Wisely initiative recommended the omission of routine sentinel lymph node biopsy (SLNB) in patients ≥ 70 years of age, with clinically node-negative, early stage, hormone receptor (HR) positive and human epidermal growth factor receptor 2 (Her2) negative breast cancer in August 2016. Here, we assess the adherence to this recommendation in a Swiss university hospital.

Methods: We conducted a retrospective single center cohort study from a prospectively maintained database.

Uncertainties and controversies in axillary management of patients with breast cancer.

The aims of this Oncoplastic Breast Consortium and European Breast Cancer Research Association of Surgical Trialists initiative were to identify uncertainties and controversies in axillary management of early breast cancer and to recommend appropriate strategies to address them. By use of Delphi methods, 15 questions were prioritized by more than 250 breast surgeons, patient advocates and radiation oncologists from 60 countries. Subsequently, a global virtual consensus panel considered available data, ongoing studies and resource utilization.

Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.

Facial morphology is highly variable, both within and among human populations, and a sizable portion of this variation is attributable to genetics. Previous genome scans have revealed more than 100 genetic loci associated with different aspects of normal-range facial variation. Most of these loci have been detected in Europeans, with few studies focusing on other ancestral groups.

3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies.

The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height).

Shared heritability of human face and brain shape.

Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain-face cross-talk.

Left Subclavian Pseudoaneurysm: A Case of Palsies in the Recurrent Laryngeal Nerve, Phrenic Nerve, and Brachial Plexus.

A patient developed a subclavian pseudoaneurysm following placement of an intravascular catheter for cancer treatment. The patient presented with palsies in the phrenic nerve, brachial plexus, and recurrent laryngeal nerve. This is a rare presentation, similar to Ortner's syndrome, which has not been previously presented in the literature.

Insights into the genetic architecture of the human face.

The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants.

Robust genome-wide ancestry inference for heterogeneous datasets: illustrated using the 1,000 genome project with 3D facial images.

Estimates of individual-level genomic ancestry are routinely used in human genetics, and related fields. The analysis of population structure and genomic ancestry can yield insights in terms of modern and ancient populations, allowing us to address questions regarding admixture, and the numbers and identities of the parental source populations. Unrecognized population structure is also an important confounder to correct for in genome-wide association studies.

Odyssey: a semi-automated pipeline for phasing, imputation, and analysis of genome-wide genetic data.

Background: Genome imputation, admixture resolution and genome-wide association analyses are timely and computationally intensive processes with many composite and requisite steps. Analysis time increases further when building and installing the run programs required for these analyses. For scientists that may not be as versed in programing language, but want to perform these operations hands on, there is a lengthy learning curve to utilize the vast number of programs available for these analyses.

Mandated wrapping of airway cart instruments: Limited access without the intended safety benefits.

Objectives/hypothesis: Isolated case studies have shown improper sterilization or contamination of equipment from anesthesia carts can lead to transmission of disease and even death. Citing this literature, national accrediting agencies mandated all instruments in the otolaryngology airway carts at San Antonio Military Medical Center be packaged to prevent contamination. This study sought to determine the infection and safety implications of packaged airway cart instruments.

Laryngocardiac Reflex: A Case Report and Review of the Literature.

Introduction: The vagus nerve has sensory and motor function in the larynx, as well as parasympathetic function in the thorax and abdomen. Stimulation of the superior laryngeal nerve can cause reflexive bradycardia.

Case: We describe a case of a 45-year-old man with pre-syncopal symptoms while exercising, and bradycardia found during cardiology workup.

Annoyance survey by means of social media.

Social surveys have been the conventional means of evaluating the annoyance caused by transportation noise. Sampling and interviewing by telephone, mail, or in person are often costly and time consuming, however. Data collection by web-based survey methods are less costly and may be completed more quickly, and hence, could be conducted in countries with fewer resources.

Evaluation of a neonatal screening program for sickle-cell disease.

Objective: Evaluate the Neonatal Screening Program of the Health Secretariat of the State of Santa Catarina for sickle-cell disease, from January 2003 to December 2012, regarding program coverage and disease frequency.

Methods: Descriptive, observational, cross-sectional study with retrospective data collection. The variables analyzed were: number of live births in the State of Santa Catarina; number of screened children; number of children diagnosed with sickle-cell trait and sickle-cell disease; type of sickle-cell disease diagnosed; age at the time of sample collection, ethnicity/skin color, gender, and origin of children with sickle-cell disease.

Conservative or radical surgery for pediatric papillary thyroid carcinoma: A systematic review of the literature.

Background: Pediatric papillary thyroid carcinoma (PTC) is characterized by an aggressive clinical course. Early diagnosis is a challenge and treatment consists principally of partial or total thyroidectomy±neck dissection and radioactive iodine therapy. Due to the rarity of PTC in children, there is no consensus on optimal surgical treatment.

Geniotubercle advancement with a uvulopalatal flap and its effect on swallow function in obstructive sleep apnea.

Objectives/hypothesis: Evaluate swallowing characteristics before and after geniotubercle advancement (GTA) with a uvulopalatal flap (UPF).

Study Design: Prospective case control series in an academic military practice.

Methods: Fourteen patients with apnea-hypopnea index (AHI) >10 scheduled for GTA were enrolled consecutively, eight of whom completed all aspects of the study for evaluation.

Quantifying the cepstral peak prominence, a measure of dysphonia.

Objective: The purpose of this study is to establish normative values for the smoothed cepstral peak prominence (CPPS) and its sensitivity and specificity as a measure of dysphonia.

Study Design: Prospective cohort study.

Methods: Voice samples of running speech were obtained from 835 patients and 50 volunteers.