Publications by authors named "Koenig M"

Objective: To expand knowledge on physical outcomes and psychosocial experiences of oocyte donors after donation across 3 age cohorts.

Design: Cross-sectional mixed-methods survey.

Patients: A total of 363 participants (ages: 22-71 years, M = 38.

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Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

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  • Congenital titinopathies are inherited in an autosomal recessive pattern and primarily result from genetic variations in metatranscript (MTT)-only exons, leading to diverse clinical outcomes.
  • The study analyzed 20 patients with these variants, revealing severe congenital myopathy at birth along with a wide range of associated issues like muscular weakness and respiratory problems.
  • Findings underscore the importance of genotype-phenotype correlations, enhancing understanding of the genetic basis and molecular mechanisms behind these conditions.
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Plant signaling peptides, also known as phytocytokines, play a crucial role in cell-to-cell communication during plant development and immunity. The detection of small peptides in plant tissues is challenging and often relies on time-consuming and cost-intensive approaches. Here, we present an ELISA-based assay as a rapid and cost-effective method for the detection of naturally released peptides in plant tissues.

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  • The case series discusses the use of elamipretide in two patients with distinct progressive mitochondrial disorders: CPEO and NARP syndrome.
  • Elamipretide was found to be well tolerated by both patients.
  • Both individuals showed improvement in their symptoms as a result of the therapy.
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  • The MMPOWER-3 clinical trial initially found no overall benefit of elamipretide for adults with primary mitochondrial myopathy, but a subgroup with nuclear DNA variants showed improvement in a six-minute walk test.
  • A large portion of the trial subjects had mitochondrial DNA variants, with particular improvements noted among those possessing pathogenic variants related to mtDNA maintenance.
  • Further analyses aim to identify trends among responders to assist in designing a more targeted Phase 3 trial for those likely to benefit from elamipretide.
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Introduction: This study explored perinatal health care providers' perspectives on the recruitment of pregnant participants and integrating clinical research into their practice, with a particular emphasis on the complexities introduced by the COVID-19 pandemic.

Methods: From May to September 2021, semistructured interviews were conducted with 10 perinatal health care providers from an urban US health center. The interview transcripts were analyzed using Braun and Clarke's thematic analysis framework, a rigorous method for analyzing qualitative data by identifying, coding, and reporting themes.

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The ongoing improvement in laser technology and target fabrication is opening new possibilities for diagnostic development. An example is x-ray phase-contrast imaging (XPCI), which serves as an advanced x-ray imaging diagnostic in laser-driven experiments. In this work, we present the results of the XPCI platform that was developed at the OMEGA EP Laser-Facility to study multi-Mbar single and double shocks produced using a kilojoule laser driver.

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Recent research shows that children's moral judgments can be influenced by testimony, but it remains unclear whether certain types of testimony are more influential than others. Here we examined two specific types of moral testimony - one that appealed to the authority of the speaker and one that appealed to the consequence of the action - and measured how each type of testimony moved children's judgments about harm. Chinese (N = 181; 45.

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  • Researchers developed new 3D cell culture models using HBV-infected primary human hepatocytes (PHH) to improve on traditional methods that have short lifespans and low infection rates.
  • The new models, which include de novo HBV-infected mouse-passaged PHH, showed sustained infection and human albumin levels for up to 75 days, significantly extending their usability.
  • The team used these 3D models for drug testing and successfully validated an HBV capsid assembly modulator, highlighting the models' potential for advancing HBV research and drug development.
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We tested whether children growing up in the Dominican Republic (D.R.), a context with relatively high governmental corruption levels, would support versus distance themselves from widespread unethical practices like bribery.

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The research team assessed community acceptability of prehospital stroke telemedicine services in rural O'ahu communities. Tools were developed to evaluate patient-centered goals about implementing ambulance-based telemedicine which aimed to retain appropriate patients in community hospitals and improve thrombolytic treatment times. Using a mixed methods approach, the team surveyed well-appearing adults (ie, able to complete survey and interview) at O'ahu community events.

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Young children often encounter unsolvable problems with which they require others' help. To receive adequate assistance, children must be savvy about whom they seek help from: Effective helpers must possess both the ability to help (e.g.

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Background: Ataxia telangiectasia is a multisystem disorder with progressive neurodegeneration. Corticosteroids can improve neurological functioning in patients with the disorder but adrenal suppression and symptom recurrence on treatment discontinuation has limited their use, prompting the development of novel steroid delivery systems. The aim of the ATTeST study was to evaluate the efficacy and safety of intra-erythrocyte delivery of dexamethasone sodium phosphate compared with placebo in children with ataxia telangiectasia.

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  • Children with tuberous sclerosis complex (TSC) have a high risk of developing drug-resistant epilepsy (DRE), making it crucial to identify those at greatest risk for timely management.
  • The study analyzed data from 70 infants with TSC to evaluate the relationship between specific TSC genotypes and the likelihood of experiencing DRE, using a variety of statistical methods.
  • Findings revealed that TSC2 pathogenic variants were strongly linked to DRE, with all DRE cases found in participants carrying TSC2 mutations; in contrast, TSC1 variants were associated with later-onset epilepsy, highlighting important differences in risk profiles.
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Introduction: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4]. More recently, UCHL1 loss of function (LoF) variants have been associated to an autosomal dominant disease characterized by late-onset spastic ataxia, neuropathy, and frequent optic atrophy [5].

Methods: Routine clinical care whole-genome (WGS) and exome (ES) sequencing.

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  • A case study describes a pregnant woman who underwent chorionic villus sampling due to a high risk associated with fetal nuchal translucency.
  • An intragenic deletion affecting the Duchenne muscular dystrophy (DMD) gene was detected in a male fetus, but was found only in a small percentage (23-30%) of placental cells.
  • The report highlights the need for amniocentesis after identifying mosaicism in the placenta to confirm that any genetic changes are not affecting the fetus, as this instance represents only the second documented case of confined placental mosaicism involving a DMD deletion.
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Food frequency questionnaires require updating over time, due to population changes in diet, posing analytical challenges in consistently measuring diet in prospective studies. We compared reliability and agreement between nutrients in two versions of the National Cancer Institute's web-based Diet History Questionnaire (DHQ, III vs. II) in an ongoing North American preconception study.

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To evaluate associations between oil and gas development (OGD) and mental health using cross-sectional data from a preconception cohort study, Pregnancy Study Online. We analyzed baseline data from a prospective cohort of US and Canadian women aged 21 to 45 years who were attempting conception without fertility treatment (2013-2023). We developed residential proximity measures for active OGD during preconception, including distance from nearest site.

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Introduction: Dietary intake during pregnancy impacts short- and long-term maternal and fetal health outcomes. Dietary habits are highly individualized and influenced by contextual factors and social determinants of health within each person's lived environment. Midwives and other health care providers are well positioned to facilitate nutrition conversations and interventions with patients related to recommendations and modifications before and during pregnancy.

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This case report presents a progressively declining 17-year-old patient with membrane protein-associated neurodegeneration who demonstrated symptomatic improvements in her dysarthria, dysphagia, and gait, and objective improvements in her 6-minute walk test and 5 times sit-to-stand test during elamipretide treatment.

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Introduction: During the COVID-19 health crisis, the official mechanisms of democracy in health, partnership, and participation were undermined. However, mechanisms that were less visible at the institutional level developed, driven by actors in the field.

Purpose Of The Research: This article aims to better understand the impacts of the epidemic on partnerships in health and in situations of disability during the period 2020–2021 Results: The participants’ responses (study 1) and narrative (study 2) were analyzed using the lexical analysis software Iramuteq.

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  • The research links the TUBA4A gene to familial amyotrophic lateral sclerosis (fALS) and fronto-temporal dementia (FTD), identifying pathogenic variants in patients with these conditions.* -
  • A study of 448 patients with cerebellar ataxia revealed ultra-rare, likely harmful TUBA4A variants not found in public databases, indicating a potential genetic cause for this condition.* -
  • Analysis showed a significant presence of TUBA4A mutations in inherited ataxia cases compared to controls, with experiments on patient-derived fibroblasts revealing disruptions in microtubule organization linked to the mutations.*
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