menkes disease

Copper (Cu) is an essential micronutrient for the correct development of eukaryotic organisms. This metal plays a key role in many cellular and physiological activities, including enzymatic activity, oxygen transport, and cell signaling. Although the redox activity of Cu is crucial for enzymatic reactions, this property also makes it potentially toxic when found at high levels. Due to this dual action of Cu, highly regulated mechanisms are necessary to prevent both the deficiency and the accumulation of this metal since its dyshomeostasis may favor the development of multiple diseases, such as Menkes' and Wilson's diseases, neurodegenerative diseases, diabetes mellitus, and cancer...

Menkes' disease (MD) and Wilson's disease (WD) are two major copper (Cu) metabolism-related disorders caused by mutations of the ATP7A and ATP7B ATPase gene, respectively. While Cu is involved in DNA strand breaks signaling and repair, the response of cells from both diseases to ionizing radiation, a common DNA strand breaks inducer, has not been investigated yet. To this aim, three MD and two WD skin fibroblasts lines were irradiated at two Gy X-rays and clonogenic cell survival, micronuclei, anti- γH2AX , - pATM , and - MRE11 immunofluorescence assays were applied to evaluate the DNA double-strand breaks (DSB) recognition and repair...

Cold agglutinin disease (CAD) is a condition involving anemia and its related symptoms; it is caused by autoantibodies that bind and agglutinate red blood cells in areas susceptible to hypothermia, such as extremities exposed to cold temperatures. CAD is rare, with 5 to 20 human cases per million individuals. In this report, we describe a case of CAD in a previously healthy and experimentally naïve adult Indian rhesus macaque that was housed indoors and presented with blood in the urine. After our observations of hemoglobinuria and anemia led us to suspect CAD, we demonstrated that the macaque's blood agglutinated at reduced temperatures...

Neurodegenerative diseases encompass a collection of neurological disorders originating from the progressive degeneration of neurons, resulting in the dysfunction of neurons. Unfortunately, effective therapeutic interventions for these diseases are presently lacking. Copper (Cu), a crucial trace element within the human body, assumes a pivotal role in various biological metabolic processes, including energy metabolism, antioxidant defense, and neurotransmission. These processes are vital for the sustenance, growth, and development of organisms...

BACKGROUND: Inner retinal atrophy has been demonstrated in schizophrenia spectrum disorder (SSD) using optical coherence tomography (OCT). This systematic review and meta-analysis investigated the role of contemporary Fourier domain OCT devices in SSD. METHODS: MEDLINE, PubMed, Scopus, Embase, PsycInfo, PYSNDEX, World Health Organization, and Cochrane databases were searched from inception until May 2022. All peer-reviewed adult SSD case-control studies using Fourier domain OCT were included...

UNLABELLED: Genetic modifier screens provide a useful tool, in diverse organisms from Drosophila to C. elegans and mice, for recovering new genes of interest that may reduce or enhance a phenotype of interest. This study reports a modifier screen, based on N-ethyl-N-nitrosourea (ENU) mutagenesis and outcrossing, designed to increase understanding of the normal function of murine α-synuclein ( Snca ). Human SNCA was the first gene linked to familial Parkinson's disease. Since the discovery of the genetic link of SNCA to Parkinson's nearly three decades ago, numerous studies have investigated the normal function of SNCA protein with divergent roles associated with different cellular compartments...

OBJECTIVE: To explore the clinical characteristics and variants of ATP7A gene in a child with Menkes disease. METHODS: A child with Menkes disease diagnosed at the West China Second Hospital of Sichuan University and its family members in March 2022 was selected as the study subjects. Clinical manifestations and results of laboratory tests and genetic testing were summarized. RESULTS: The main manifestations of the child included seizures, global development delay, facial dysmorphism, sparse and curly hair, increased lactate and pyruvate, and significantly decreased cuprin...

OBJECTIVE: The current model of obstetric care does not integrate multiple subspecialty services for high-risk pregnancies with substance use disorder (SUD), resulting in fragmented care. We describe the framework of our multidisciplinary and integrated perinatal substance use clinic and provide recent clinical outcomes. METHODS: We detail the Partnering for the Future (PFF) clinic, which integrates numerous subspecialty and support services for patients with SUDs and complex mental health needs...

No abstract text is available yet for this article.

Chemical agents have been utilized for centuries in warfare and pose a health threat to civilians and military personnel during armed conflict. Despite treaties and regulations against their use, chemical agent exposure remains a threat and measures to understand their effects and countermeasures for systemic and organ-specific health are needed. Many of these agents have ocular complications, both acute and chronic. This mini-review focuses on key chemical agents including vesicants (mustards, lewisite), nerve agents (sarin, VX), knockdown gasses (hydrogen cyanide), and caustics (hydrofluoric acid)...

PURPOSE: Eftilagimod alpha (efti), a soluble LAG-3 protein and MHC class II agonist, enhances innate and adaptive immunity. AIPAC evaluated safety and efficacy of efti plus paclitaxel in patients with predominantly endocrine-resistant, hormone receptor-positive, HER2-negative metastatic breast cancer (ET-resistant HR+ HER2- MBC). PATIENTS AND METHODS: Women with HR+ HER2- MBC were randomized 1:1 to weekly intravenous paclitaxel (80 mg/m2) and subcutaneous efti (30 mg) or placebo every 2 weeks for six 4-week cycles, then monthly subcutaneous efti (30 mg) or placebo maintenance...

Trastuzumab deruxtecan (T-DXd) is used to treat human epidermal growth factor receptor 2-positive advanced breast cancer. Interstitial lung disease (ILD) is a severe adverse event associated with T-DXd. Current guidelines recommend permanent discontinuation of T-DXd after Common Terminology Criteria for Adverse Events (CTCAE) grade ≥ 2 ILD. Here, we describe a case of successful rechallenge with T-DXd after CTCAE grade 2 treatment-induced ILD. After discontinuation of T-DXd, ILD was treated with steroids until complete resolution...

No abstract text is available yet for this article.

Cold agglutinin disease (CAD) is a condition involving anemia and its related symptoms; it is caused by autoantibodiesthat bind and agglutinate red blood cells in areas susceptible to hypothermia, such as extremities exposed to cold temperatures.CAD is rare, with 5 to 20 human cases per million individuals. In this report, we describe a case of CAD in a previouslyhealthy and experimentally naïve adult Indian rhesus macaque that was housed indoors and presented with blood in theurine. After our observations of hemoglobinuria and anemia led us to suspect CAD, we demonstrated that the macaque'sblood agglutinated at reduced temperatures...

Novel prophylactic drugs and vaccination strategies for protection against influenza virus should induce specific effector T-cell immune responses in pulmonary airways and peripheral lymphoid organs. Designing approaches that promote T-cell-mediated responses and memory T-cell differentiation would strengthen host resistance to respiratory infectious diseases. The results of this study showed that pulmonary delivery of MENK via intranasal administration reduced viral titres, upregulated opioid receptor MOR and DOR, increased the proportions of T-cell subsets including CD8+ T cells, CD8+ TEM cells, NP/PA-effector CD8+ TEM cells in bronchoalveolar lavage fluid and lungs, and CD4+ /CD8+ TCM cells in lymph nodes to protect mice against influenza viral challenge...

Mosquito-borne viruses are leading causes of morbidity and mortality in many parts of the world. In recent years, modelling studies have shown that climate change strongly influences vector-borne disease transmission, particularly rising temperatures. As a result, the risk of epidemics has increased, posing a significant public health risk. This review aims to summarize all published laboratory experimental studies carried out over the years to determine the impact of temperature on the transmission of arboviruses by the mosquito vector...

As a transitional metal, copper plays a crucial role in maintaining the normal physiological activities of mammals. The intracellular copper concentration is meticulously regulated to maintain extremely low levels through homeostatic regulation. Excessive accumulation of free copper in cells can have deleterious effects, as observed in conditions such as Wilson's disease. Moreover, data accumulated over the past few decades have revealed a crucial role of copper imbalance in tumorigenesis, progression and metastasis...

INTRODUCTION: There is an ongoing controversy regarding management of ureteropelvic junction obstruction in infants, with a shift towards a non-operative approach. However, precise predictors of outcome are lacking. Recent studies postulated a high prognostic value of Technetium-99m-mercaptoacetyltriglycine tissue tracer transit with regard to the development of an impaired differential renal function and its potential improvement following pyeloplasty. OBJECTIVE: To evaluate the prognostic value of Technetium-99m-mercaptoacetyltriglycine tissue tracer transit for the occurrence of changes in differential renal function in infants with suspected unilateral ureteropelvic junction obstruction in a prospective observational multicenter study...

Increasing evidence shows that abnormal copper (Cu) metabolism is highly related to many diseases, such as Alzheimer's disease, Wilson's disease, hematological malignancies and Menkes disease. Very recently, cuproptosis, a Cu-dependent, programmed cell death was firstly described by Tsvetkov et al. in 2022. Their findings may provide a new perspective for the treatment of related diseases. However, the concrete mechanisms of these diseases, especially cuproptosis, remain completely unclear, the reason of which may be a lack of reliable tools to conduct highly selective, sensitive and high-resolution imaging of Cu in complex life systems...

LAT1 (SLC7A5) is one of the most studied membrane transporters due to its relevance to physiology in supplying essential amino acids to brain and fetus, and to pathology being linked to nervous or embryo alterations; moreover, LAT1 over-expression is always associated with cancer development. Thus, LAT1 is exploited as a pro-drug vehicle and as a target for anti-cancer therapy. We here report the identification of a new substrate with pathophysiological implications, i.e., Cu-histidinate, and an unconventional uniport mechanism exploited for the Cu-histidinate transport...