Use of Estonian Biobank data and participant recall to improve Wilson's disease management.

Population-based biobanks enable genomic screening to support initiatives that prevent disease onset or slow its progression and to estimate the prevalence of genetic diseases in the population. Wilson's disease (WD) is a rare genetic copper-accumulation disorder for which timely intervention is crucial, as treatment is readily available. We studied WD in the Estonian Biobank population to advance patient screening, swift diagnosis, and subsequent treatment.

Effects of drugs on the oxygen dissociation curve-a scoping review.

Purpose: The shape and position of the hemoglobin-oxygen dissociation curve (ODC) is of critical importance in medicine, as it determines the uptake of O in the lungs and the delivery of O to the tissues. Numerous reports have identified affinity-modulating effects of drugs in humans. Such effects may be relevant to conditions such as pulmonary diffusion disorders, peripheral vascular disease, or coronary artery disease.

Transarticular versus Transosseous Amputations in Diabetic Foot Osteomyelitis: A Retrospective Comparative Study.

Background: Reamputations are frequent after minor amputations performed for diabetic foot osteomyelitis (DFO). Whether the type of amputation is associated with a particular outcome is unknown. The aim of this study was to evaluate whether amputations of the transarticular compared with the transosseous type have different rates of clinical and microbiological failure.

Sex dependent effects of cardiovascular agents on hemoglobin oxygen affinity - An ex-vivo experiment.

Background: Hemoglobin‑oxygen (Hb-O) affinity is an important determinant for oxygen delivery and oxygen extraction. Although cardiovascular agents such as noradrenaline, adrenaline, atropine, milrinone and levosimendan are widely used in intensive care units worldwide, nothing is known about their possible effects on Hb-O affinity.

Methods: In this experimental ex-vivo trial, venous blood samples were taken from 5 male and 6 female volunteers and incubated with the particular cardiovascular agents.

Genetic susceptibility to temporomandibular joint involvement in juvenile idiopathic arthritis.

Background: Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic condition of childhood. Temporomandibular joint (TMJ) is among the most commonly affected joints in JIA patients. When JIA involves the TMJ, it may affect condylar growth in the joint; therefore, JIA patients are at risk of unfavourable long-term outcomes from associated joint damage.

Uncovering the shared genetic components of thyroid disorders and reproductive health.

Objective: The aim of the study is to map the shared genetic component and relationships between thyroid and reproductive health traits to improve the understanding of the interplay between those domains.

Design: A large-scale genetic analysis of thyroid traits (hyper- and hypothyroidism, and thyroid-stimulating hormone levels) was conducted in up to 743 088 individuals of European ancestry from various cohorts.

Methods: We evaluated genetic associations using genome-wide association study (GWAS) meta-analysis, GWAS Catalog lookup, gene prioritization, mouse phenotype lookup, and genetic correlation analysis.

The impact of cannabinoids on methemoglobin formation and hemoglobin oxygen affinity: An ex-vivo study.

The affinity of hemoglobin (Hb) to oxygen (O) influences processes of oxygen delivery and extraction at the tissue level. Despite cannabinoids being utilized or ingested in various ways, their possible impact on Hb-O affinity has barely been studied. This is an experimental ex-vivo trial.

Optimized Building Envelope: Lightweight Concrete with Integrated Steel Framework.

This study presents a novel construction method for prefabricated wall elements by integrating a framework made of thin-walled sheet steel profiles into an optimized thermally insulating lightweight aggregate concrete (LAC) building envelope. The load-bearing function of the framework is provided by cold-formed Sigma-profiles, which are spot-welded to non-load-bearing U-profiles at the vertical ends. The LAC shapes the wall and stabilizes the thin-walled steel profiles against buckling, but has no further load-bearing function, thus allowing the reduction of its necessary compressive strength and subsequently minimizing its density.

Patterns of recurrence and disease progression in patients with positive-margin olfactory neuroblastoma following primary resection.

Objective: Olfactory neuroblastoma (ONB) is a rare, malignant tumor of the sinonasal tract that arises from olfactory epithelium. Although surgery is the preferred first-line treatment, tumor involvement of adjacent structures may preclude the ability to achieve negative margins during initial resection. Herein, the authors examine the oncological outcomes of patients with positive margins after primary resection of ONB, with the aim of determining predictors of disease progression and patterns of recurrence.

Association Between Social Determinants of Health, Distance from Treatment Center, and Treatment Type with Outcomes in Human Papillomavirus Associated Oropharyngeal cancer.

Objectives: Social determinants of health (SDOH) can influence access to cancer care, clinical trials, and oncologic outcomes. We investigated the association between SDOH, distance from treatment center, and treatment type with outcomes in human papillomavirus associated oropharyngeal squamous cell carcinoma [HPV(+)OPSCC] patients treated at a tertiary care center.

Study Design: Retrospective review.

Mapping of the gene network that regulates glycan clock of ageing.

Glycans are an essential structural component of immunoglobulin G (IgG) that modulate its structure and function. However, regulatory mechanisms behind this complex posttranslational modification are not well known. Previous genome-wide association studies (GWAS) identified 29 genomic regions involved in regulation of IgG glycosylation, but only a few were functionally validated.

Risk of Monopolar Electrosurgery in Cochlear Implant Recipients is Nominal: Evidence to Guide Clinical Practice.

Objective: Comprehensively assess the prevalence of monopolar electrosurgery-related device complications among cochlear implant (CI) recipients.

Study Design: Multifaceted retrospective review and survey.

Setting: Tertiary medical center.

Assessing the capacity of methylated DNA markers of cervical squamous cell carcinoma to discriminate oropharyngeal squamous cell carcinoma in human papillomavirus mediated disease.

Objective: Early identification of human papillomavirus associated oropharyngeal squamous cell carcinoma (HPV(+)OPSCC) is challenging and novel biomarkers are needed. We hypothesized that a panel of methylated DNA markers (MDMs) found in HPV(+) cervical squamous cell carcinoma (CSCC) will have similar discrimination in HPV(+)OPSCC tissues.

Materials And Methods: Formalin-fixed, paraffin-embedded tissues were obtained from patients with primary HPV(+)OPSCC or HPV(+)CSCC; control tissues included normal oropharynx palatine tonsil (NOP) and cervix (NCS).

Measures adopted by indigent mothers in Kilifi County to tackle maternal health challenges during the COVID-19 pandemic: A qualitative study.

Many sub-Saharan African countries have experienced various challenges that threaten the quality of health services offered to the population. The COVID-19 pandemic disrupted access to healthcare services in many countries as they grappled with implementing measures to curb its spread. The consequences of COVID-19 have been catastrophic for maternal and newborn health.

Local perspectives on policy implementation of free maternity health services in Kenya: Implications for universal health coverage.

Kenya introduced free maternity services (FMS) in 2013 to enable all pregnant women to give birth for free in all government public health facilities. Currently, Kenya is rolling out universal health coverage (UHC), which has been acknowledged as a priority goal for every health system and part of the 'Big Four Agenda' for sustainable national development in Kenya. FMS is one of the core services in Kenya, but since its launch, it is not clear whether the decentralized approach chosen to implement FMS is leading to UHC.

Optimization of Subglottic View During Flexible Laryngoscopy With Patient Positioning.

Objective: Determine the ideal head position to optimize visualization of the subglottis using flexible laryngoscopy.

Study Design: Prospective cohort study.

Setting: Outpatient multidisciplinary airway clinic at a tertiary care center.

Cochlear Implant Outcomes between Patients with Sporadic and Neurofibromatosis Type 2-Associated Vestibular Schwannoma.

Objective: Compare cochlear implant (CI) performance between patients with ipsilateral sporadic vestibular schwannoma (VS) and NF2-related schwannomatosis (NF2). Compare CI performance according to VS management modality.

Study Design: Historical cohort.

Assessment of Brain Magnetic Resonance and Spectroscopy Imaging Findings and Outcomes After Pediatric Cardiac Arrest.

Importance: Morbidity and mortality after pediatric cardiac arrest are chiefly due to hypoxic-ischemic brain injury. Brain features seen on magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) after arrest may identify injury and aid in outcome assessments.

Objective: To analyze the association of brain lesions seen on T2-weighted MRI and diffusion-weighted imaging and N-acetylaspartate (NAA) and lactate concentrations seen on MRS with 1-year outcomes after pediatric cardiac arrest.

The Effects of Gross Cranial Nerve Invasion on Oncologic Outcomes in Patients with HPV(+)OPSCC.

Objectives: This study examines oncologic outcomes in patients with HPV-related oropharyngeal squamous cell carcinoma (HPV(+)OPSCC) who had evidence of gross cranial nerve invasion (CNI) identified at the time of surgery.

Study Design: Retrospective cohort study comparing demographics, clinical features, and outcomes of HPV(+)OPSCC patients with and without gross CNI.

Methods: Patients with biopsy proven HPV(+)OPSCC involving the base of tongue, tonsil, or unknown primary site, who underwent surgery as a part of their treatment between 1/1/2006-12/31/2020 (n = 874), were included in this study.

Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy.

Introduction: Epilepsy is a common central nervous system disorder characterized by abnormal brain electrical activity. We aimed to compare the metabolic profiles of plasma from patients with epilepsy across different etiologies, seizure frequency, seizure type, and patient age to try to identify common disrupted pathways.

Material And Methods: We used data from three separate cohorts.

Common clinical blood and urine biomarkers for ischemic stroke: an Estonian Electronic Health Records database study.

Background: Ischemic stroke (IS) is a major health risk without generally usable effective measures of primary prevention. Early warning signals that are easy to detect and widely available can save lives. Estonia has one nation-wide Electronic Health Record (EHR) database for the storage of medical information of patients from hospitals and primary care providers.

Lacking mechanistic disease definitions and corresponding association data hamper progress in network medicine and beyond.

A long-term objective of network medicine is to replace our current, mainly phenotype-based disease definitions by subtypes of health conditions corresponding to distinct pathomechanisms. For this, molecular and health data are modeled as networks and are mined for pathomechanisms. However, many such studies rely on large-scale disease association data where diseases are annotated using the very phenotype-based disease definitions the network medicine field aims to overcome.

30-day morbidity and mortality after transoral robotic surgery for human papillomavirus (HPV) associated oropharyngeal squamous cell carcinoma: A retrospective analysis of two prospective adjuvant de-escalation trials (MC1273 & MC1675).

Objective: Dose de-escalation of adjuvant therapy (DART) in patients with HPV(+)OPSCC was investigated in two prospective Phase II and III clinical trials (MC1273 and MC1675). We report the 30-day morbidity and mortality associated with primary TORS resection in patients enrolled in these trials.

Materials And Methods: Patients with HPV(+)OPSCC, who underwent TORS resection between 2013 and 2020 were considered in this analysis.