Roadmap to a Global Template for Implementation of Ototoxicity Management for Cancer Treatment.

Ototoxicity is among the adverse events related to cancer treatment that can have far-reaching consequences and negative impacts on quality-of-life for cancer patients and survivors of all ages. Ototoxicity management (OtoM) comprises the prevention, diagnosis, monitoring, and treatment, including rehabilitation and therapeutic intervention, of individuals who experience hearing loss, tinnitus, or balance/vestibular difficulties following exposures to ototoxic agents, including platinum chemotherapy (cisplatin, carboplatin) and cranial radiation. Despite the well-established physical, socioeconomic, and psychological consequences of hearing and balance dysfunction, there are no widely adopted standards for clinical management of cancer treatment-related ototoxicity.

Immunofluorescence analyses of respiratory epithelial cells aid the diagnosis of nephronophthisis.

Background: Nephronophthisis (NPH) comprises a heterogeneous group of inherited renal ciliopathies clinically characterized by progressive kidney failure. So far, definite diagnosis is based on molecular testing only. Here, we studied the feasibility of NPHP1 and NPHP4 immunostaining of nasal epithelial cells to secure and accelerate the diagnosis of NPH.

Descriptive Characterization of High-Frequency Distortion Product Otoacoustic Emission Source Components in Children.

Purpose: Distortion product otoacoustic emissions (DPOAEs) provide an objective assessment of cochlear function and are used for serial ototoxicity monitoring in pediatric cancer patients. DPOAEs are modeled as having distortion (near ) and reflection (near 2-) component sources, and developmental changes are observed in these components' relative strengths in infants compared with adults. However, little is known about source component strengths in childhood or at extended high frequencies (EHFs; > 8 kHz).

Review of neurodevelopmental disorders in patients with HNF1B gene variations.

This review investigates the association between neurodevelopmental disorders (NDD) and variations of the gene HNF1B. Heterozygous intragenetic mutations or heterozygous gene deletions (17q12 microdeletion syndrome) of HNF1B are the cause of a multi-system developmental disorder, termed renal cysts and diabetes syndrome (RCAD). Several studies suggest that in general, patients with genetic variation of HNF1B have an elevated risk for additional neurodevelopmental disorders, especially autism spectrum disorder (ASD) but a comprehensive assessment is yet missing.

Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review.

This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.

Context: Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish.

Ototoxicity prognostic models in adult and pediatric cancer patients: a rapid review.

Purpose: A cornerstone of treatment for many cancers is the administration of platinum-based chemotherapies and/or ionizing radiation, which can be ototoxic. An accurate ototoxicity risk assessment would be useful for counseling, treatment planning, and survivorship follow-up in patients with cancer.

Methods: This systematic review evaluated the literature on predictive models for estimating a patient's risk for chemotherapy-related auditory injury to accelerate development of computational approaches for the clinical management of ototoxicity in cancer patients.

Audiologists' perceived value of ototoxicity management and barriers to implementation for at-risk cancer patients in VA: the OtoMIC survey.

Purpose: Platinum-based chemotherapies used to treat many types of cancers are ototoxic. Ototoxicity management (OtoM) to mitigate the ototoxic outcomes of cancer survivors is recommended practice yet it is not a standard part of oncologic care. Although more than 10,000 patients each year are treated with platinum-based chemotherapies at the US Veterans Health Administration (VA), the current state of OtoM in VA is not well-defined.

Rhizophagus irregularis improves Hg tolerance of Medicago truncatula by upregulating the Zn transporter genes ZIP2 and ZIP6.

Mercury (Hg) pollution of soils is a critical environmental problem. To rehabilitate Hg contaminated soils, arbuscular mycorrhizal (AM) fungi-based phytoremediation may be supportive, yet the functional potential of AM fungi in response to Hg exposure is unclear. In a greenhouse experiment, we assessed the response of Medicago truncatula (Hg tolerance index (TI), Hg partitioning) to different Hg concentrations [0 (Hg0), 25 (Hg25), 50 (Hg50) µg g] in treatments with (AM) and without (NM) inoculation of Rhizophagus irregularis.

Contralateral inhibition of distortion product otoacoustic emissions in young noise-exposed Veterans.

Although animal models show a clear link between noise exposure and damage to afferent cochlear synapses, the relationship between noise exposure and efferent function appears to be more complex. Animal studies indicate that high intensity noise exposure reduces efferent medial olivocochlear (MOC) reflex strength, whereas chronic moderate noise exposure is associated with a conditioning effect that enhances the MOC reflex. The MOC reflex is predicted to improve speech-in-noise perception and protects against noise-induced auditory damage by reducing cochlear gain.

Genetic diversity and community composition of arbuscular mycorrhizal fungi associated with root and rhizosphere soil of the pioneer plant .

The pioneering plant had a strong modulation effect on arbuscular mycorrhizal fungi (AMF) communities. Irrespective of geographical location, community composition of AMF in rhizosphere soil differed from that of the root. Co-occurrence network analysis revealed two AMF keystone species in rhizosphere soil () and roots () of .

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.

Introduction: Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function.

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Organ fibrosis is a shared endpoint of many diseases, yet underlying mechanisms are not well understood. Several pathways governed by the primary cilium, a sensory antenna present on most vertebrate cells, have been linked with fibrosis. Ciliopathies usually start early in life and represent a considerable disease burden.

Clinical and genetic approach to renal hypomagnesemia.

Magnesium (Mg) is an important intracellular cation and essential to maintain cell function including cell proliferation, immunity, cellular energy metabolism, protein and nucleic acid synthesis, and regulation of ion channels. Consequences of hypomagnesemia affecting multiple organs can be in overt or subtle presentations. Besides detailed history and complete physical examination, the assessment of urinary Mg excretion is help to differentiate renal from extra-renal (gastrointestinal, tissue sequestration, and shifting) causes of hypomagnesemia.

Point-of-Care Glucose and Lipid Profile Measures Using a Human Point-of-Care Device in Mouse Models of Type 2 Diabetes Mellitus, Aging, and Alzheimer Disease.

A point-of-care (POC) device to measure mouse glucose and lipid profiles is an important unmet need for cost-effective, immediate decision making in research. We compared metabolic analyte profiles obtained using a human clinical POC device with those from a veterinary laboratory chemical analyzer (LCA). Unfasted terminal blood samples were obtained by cardiac puncture from C57Bl/6J mice used in a diet-induced obesity model of type 2 diabetes mellitus; age-matched C57Bl/6J controls; a transgenic mouse model of Alzheimer's disease on a C57BL/6J background (16 wk old); and aged C57BL/6J mice (24 to 60 wk old).

Impacts of Diabetes, Aging, and Hearing Loss on Speech-on-Speech Masking and Spatial Release in a Large Veteran Cohort.

Purpose: Type 2 diabetes mellitus (DM2) is associated with impaired hearing. However, the evidence is less clear if DM2 can lead to difficulty understanding speech in complex acoustic environments, independently of age and hearing loss effects. The purpose of this study was to estimate the magnitude of DM2-related effects on speech understanding in the presence of competing speech after adjusting for age and hearing.

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Background: Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by biallelic pathogenic variants in encoding the Na-Cl cotransporter (NCC) expressed in the distal convoluted tubule. Pathogenic variants of , , , or may result in the same renal phenotype of Gitelman syndrome, as they can lead to reduced NCC activity.

mTOR-Activating Mutations in Are Causative for Kidney Tubulopathy and Cardiomyopathy.

Background: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Nevertheless, approximately 20% of all patients with tubulopathy lack a genetic diagnosis.

Methods: We performed whole-exome and -genome sequencing of a patient cohort with a novel, inherited, salt-losing tubulopathy; hypomagnesemia; and dilated cardiomyopathy.

Ototoxicity and Noise Damage: From Preclinical Findings to Audiological Management.

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A Randomized Controlled Trial Using Automated Technology for Improving Ototoxicity Monitoring in VA Oncology Patients.

Purpose Determine the efficacy of ototoxicity monitoring (OM) administered as automated protocols with the Oto-ID mobile audiometer (automated ototoxicity monitoring [A-OM]), compared with usual care (UC) OM in cancer patients receiving cisplatin. Method Participants were patients ( = 46, mean age 64.7 years; range: 30-78 years) receiving cisplatin-based chemotherapy at the Department of Veterans Affairs Portland Health Care System.