Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders.

Objective: Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) result from under- and overexpression of MECP2, respectively. Preclinical studies using genetic-based treatment showed robust phenotype recovery for both MDS and RTT. However, there is a risk of converting MDS to RTT, or vice versa, if accurate MeCP2 levels are not achieved.

Clustering of > 145,000 symptom logs reveals distinct pre, peri, and menopausal phenotypes.

The transition to menopause is associated with disappearance of menstrual cycle symptoms and emergence of vasomotor symptoms. Although menopausal women report a variety of additional symptoms, it remains unclear which emerge prior to menopause, which occur in predictable clusters, how clusters change across the menopausal transition, or if distinct phenotypes are present within each life stage. We present an analysis of symptoms in premenopausal to menopausal women using the MenoLife app, which includes 4789 individuals (23% premenopausal, 29% perimenopausal, 48% menopausal) and 147,501 symptom logs (19% premenopausal, 39% perimenopausal, 42% menopausal).

Examination of immunohistochemical of the effects of flattened and unflattened radiotherapy beams in nude mice breast cancer xenografts.

Purpose: The aim of this study was to investigate the radiobiological effects underlying the inhibition of breast cancer (BCa) following radiotherapy in nude mice models, and to evaluate the impact of changes in immunohistochemical parameters induced by FF and FFF beams.

Materials And Methods: The study included thirty-six adult nude mouse models, which were randomly assigned to five groups: control (G1), breast cancer (BCa) (G2), FF-400 MU/min (G3), FFF-1100 MU/min (G4), and FFF-1800 MU/min (G5). The control group received neither radiation nor treatment, while the BCa group had a cancer model without radiation.

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.

Deep learning model using continuous skin temperature data predicts labor onset.

Background: Changes in body temperature anticipate labor onset in numerous mammals, yet this concept has not been explored in humans. We investigated if continuous body temperature exhibits similar changes in women and whether these changes may be linked to hormonal status. Finally, we developed a deep learning model using temperature patterning to provide a daily forecast of time to labor onset.

Multiphase optimization strategy to establish optimal delivery of nutrition-related services in healthcare settings: A step towards clinical trial.

Background: Minorities living in the Southern US generally have greater incidence and prevalence of cardiometabolic diseases compared to other groups. Cardiometabolic disease prevalence and risk can be reduced by focusing on diet and lifestyle modifications. There is need for holistic and integrated care models for community-based healthcare organizations who are already working with minorities.

Resonance Raman spectral analysis of the heme site structure of cytochrome c oxidase with its positive regulator CHCHD2.

Cytochrome c oxidase (CcO) reduces O, pumps protons in the mitochondrial respiratory chain, and is essential for oxygen consumption in the cell. The coiled-coil-helix-coiled-coil-helix domain-containing 2 (CHCHD2; also known as mitochondrial nuclear retrograde regulator 1 [MNRR1], Parkinson's disease 22 [PARK22] and aging-associated gene 10 protein [AAG10]) is a protein that binds to CcO from the intermembrane space and positively regulates the activity of CcO. Despite the importance of CHCHD2 in mitochondrial function, the mechanism of action of CHCHD2 and structural information regarding its binding to CcO remain unknown.

Melatonin as a radioprotective agent against flattening filter and flattening filter-free beam in radiotherapy-induced lung tissue damage.

Background: Radiotherapy is a widely used treatment method in oncology, applied by delivering high-energy particles or waves to the tumor tissue. Although tumor cells are targeted with radiotherapy, it can cause acute or long-term damage to healthy tissues. Therefore, the preservation of healthy tissues has been an important subject of various scientific researches.

Impact of sarcopenia and vitamin D levels on the severity of lower urinary tract symptoms in older males.

Objectives: To assess the impact of sarcopenia and vitamin D levels on the severity of lower urinary tract symptoms (LUTS).

Methods: A total of 193 male patients, aged 60 years and above, who visited the geriatric outpatient clinic at Ibn-i Sina Hospital in Ankara, Turkey, between December 2019 and March 2021, were enrolled. Sarcopenia was diagnosed according to the criteria set by the European Working Group on Sarcopenia in Older People.

Effect of vitamin D and a stinging nettle extract on the gastric tissue of rats administered with trinitrobenzene sulfonic acid.

In this study, the effects of vitamin D (Vit. D) and a stinging nettle [ L. (UD)] extract were examined using histopathological and immunohistochemical methods in the stomach tissues of an experimentally created rat model of Crohn's disease (CD).

Adeno-associated virus-mediated trastuzumab delivery to the central nervous system for human epidermal growth factor receptor 2+ brain metastasis.

Trastuzumab improves overall survival for HER2+ breast cancer, but its short half-life in the cerebrospinal fluid (~2-4 days) and delivery limitations restrict the ability to target HER2+ central nervous system (CNS) disease. We developed an adeno-associated virus (AAV) vector expressing a codon-optimized, ubiquitin C (UbC)-promoter-driven trastuzumab sequence (AAV9.UbC.

Deep Learning Model Using Continuous Skin Temperature Data Predicts Labor Onset.

Background: Changes in body temperature anticipate labor onset in numerous mammals, yet this concept has not been explored in humans.

Methods: We evaluated patterns in continuous skin temperature data in 91 pregnant women using a wearable smart ring. Additionally, we collected daily steroid hormone samples leading up to labor in a subset of 28 pregnancies and analyzed relationships among hormones and body temperature trajectory.

A new possible marker: can pennation angle defined by ultrasound predict the frailty?

Background: Frailty indicates older people who are vulnerable to stressors. The relation between ultrasonographic parameters of muscle and frailty among older people has yet to be investigated.

Aims: The aim of the study is to investigate the relationship between frailty and the ultrasonographic measurements of the rectus femoris muscle (RFM).

Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome.

Background/aims: We aimed to develop a validated patient-reported Gastrointestinal Health Scale (GHS) specific to MECP2 Duplication Syndrome (MDS) to be used in clinical trials.

Methods: MDS parents completed a Gastrointestinal Health Questionnaire (GHQ) to investigate the most relevant and important items associated with gastrointestinal problems in MECP2-related disorders. Item reduction was executed according to EORTC guidelines.

A mitochondrial regulator protein, MNRR1, is elevated in the maternal blood of women with preeclampsia.

Objective: Preeclampsia, one of the most serious obstetric complications, is a heterogenous disorder resulting from different pathologic processes. However, placental oxidative stress and an anti-angiogenic state play a crucial role. Mitochondria are a major source of cellular reactive oxygen species.

Mitochondrial Oxidative Phosphorylation in Viral Infections.

Mitochondria have been identified as the "powerhouse" of the cell, generating the cellular energy, ATP, for almost seven decades. Research over time has uncovered a multifaceted role of the mitochondrion in processes such as cellular stress signaling, generating precursor molecules, immune response, and apoptosis to name a few. Dysfunctional mitochondria resulting from a departure in homeostasis results in cellular degeneration.

The relationship between sarcopenia, sarcopenia related quality of life and ultrasound findings of the rectus femoris muscle in older outpatients.

Purpose: Skeletal muscle ultrasonography stands out as a promising method for detecting sarcopenia. We aimed to evaluate the relationship between sarcopenia, sarcopenia related quality of life and US findings of the Rectus Femoris muscle.

Methods: A total of 300 older individuals were included in this cross-sectional study.

Epicardial placement of human placental membrane protects from heart injury in a swine model of myocardial infarction.

Cardiac ischemic reperfusion injury (IRI) is paradoxically instigated by reestablishing blood-flow to ischemic myocardium typically from a myocardial infarction (MI). Although revascularization following MI remains the standard of care, effective strategies remain limited to prevent or attenuate IRI. We hypothesized that epicardial placement of human placental amnion/chorion (HPAC) grafts will protect against IRI.

Comparative Evaluation of Debris Extrusion, Remaining Dentin Thickness and Fracture Resistance of Endodontically Treated Teeth Using Rotary and Reciprocating Endodontic File Systems: An In Vitro Study.

Background: Preventing the apical extrusion of debris during instrumentation is of paramount importance to reduce the occurrence of flare-ups in endodontically treated teeth. Furthermore, an essential requirement for the longevity and strength of an endodontically treated tooth and its ability to resist fracture is the preservation of residual dentin thickness during instrumentation. The aim of this study was to compare the amount of debris extrusion, remaining dentin thickness at the coronal third, middle third, apical third, and the fracture resistance of the teeth using rotary (TruNatomy; Dentsply Sirona, Charlotte, NC) and reciprocating (WaveOne Gold; Dentsply Sirona) endodontic file systems.