keyword
https://read.qxmd.com/read/38537102/late-onset-familial-amyloidosis-polyneuropathy-associated-with-c-186g-c-in-transthyretin
#1
JOURNAL ARTICLE
Eugenia Conti, Sebastián Menazzi, Ana Mariel Finkelsteyn, María de Lourdes Figuerola
INTRODUCTION: The most common form of hereditary amyloidosis is associated with variants of transthyretin (TTR). Familial amyloidosis polyneuropathy associated with variants of TTR (FAP-TTR) is an infrequent, multisystemic disease, with predominant involvement of the peripheral nervous system. More than 130 pathogenic variants have been identified so far and most of them are amyloidogenic, being Val30Met the most frequently described. CASE REPORT: A 74 year-old male was evaluated for progressive decreased sensitivity and associated loss of strength in four limbs in the previous two years, needing assistance for walking...
March 27, 2024: Revista de la Facultad de Ciencias Médicas
https://read.qxmd.com/read/38536952/familial-recurrence-of-incontinentia-pigmenti-due-to-de-novo-pathogenic-variants-in-the-ikbkg-gene
#2
Julie Steffann, Judite De Oliveira Santos, Anne-Laure Zelbin, Smail Hadj-Rabia, Fabienne Charbit-Henrion, Florence Petit
Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a multisystem disorder which associates specific skin lesions that evolves in four stages, and occasionally, central nervous system, eye, hair, and teeth involvement. Familial (35%) and sporadic (65%) cases are caused by pathogenic variants in the IKBKG gene. Here we report an unusual family, where, in two half-sisters affected by typical IP, molecular genetic analysis identified a likely pathogenic non-sense variant in the IKBKG gene of one of the sisters, the other being not a carrier...
March 27, 2024: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/38536829/the-effects-of-gases-from-food-waste-on-human-health-a-systematic-review
#3
JOURNAL ARTICLE
Paulina Rudziak, Evans Batung, Isaac Luginaah
Food waste is a routine and increasingly growing global concern that has drawn significant attention from policymakers, climate change activists and health practitioners. Amid the plurality of discourses on food waste-health linkages, however, the health risks from food waste induced emissions have remained under explored. This lack of evidence is partly because of the lack of complete understanding of the effects of food waste emissions from household food waste on human health either directly through physiological mechanisms or indirectly through environmental exposure effects...
2024: PloS One
https://read.qxmd.com/read/38536791/intrauterine-and-early-life-malnutrition-in-rats-disrupts-the-circadian-rhythm-programming-of-energy-metabolites-through-adulthood
#4
JOURNAL ARTICLE
Dulce Jocelyn Bustamante-Valdez, Martin Alejandro Fuentes-Cano, Jesus Salvador Gonzalez-Ruano, Alonso Martinez-Canabal, Rene Cardenas-Vazquez, Pilar Duran
Maternal malnutrition plays a crucial role in functional development, resulting in behavioral, cognitive, and metabolic abnormalities and disturbances. "Cafeteria diet" has been linked to obesity, metabolic syndrome, diabetes, and other metabolic disruptions in the mammalian lifespan. However, there are very few reports about the effect of intrauterine and early postnatal malnutrition on the circadian rhythm programming of energy metabolites. In mammals, circadian rhythm central control is fundamental for correct interaction with the environment and physiological regulation...
2024: PloS One
https://read.qxmd.com/read/38536776/electroacupuncture-stimulation-enhances-the-permeability-of-the-blood-brain-barrier-a-systematic-review-and-meta-analysis-of-preclinical-evidence-and-possible-mechanisms
#5
JOURNAL ARTICLE
Nuo Xu, Peng Gong, Shiting Xu, Yangyun Chen, Mengyuan Dai, Zhaoxing Jia, Xianming Lin
An important cellular barrier to maintain the stability of the brain's internal and external environment is the blood-brain barrier (BBB). It also prevents harmful substances from entering brain tissue through blood circulation while providing protection for the central nervous system. It should be noted, however, that the intact BBB can be a barrier to the transport of most drugs into the brain via the conventional route of administration, which can prevent them from reaching effective concentrations for the treatment of disorders affecting the central nervous system...
2024: PloS One
https://read.qxmd.com/read/38536761/perspectives-on-the-impact-of-vortioxetine-on-the-treatment-armamentarium-of-major-depressive-disorder
#6
JOURNAL ARTICLE
Alessandro Cuomo, Giovanni Barillà, Matteo Cattolico, Simone Pardossi, Elisa Mariantoni, Despoina Koukouna, Pietro Carmellini, Andrea Fagiolini
INTRODUCTION: Major Depressive Disorder (MDD) is a mental health issue that significantly affects patients' quality of life and functioning. Despite available treatments, many patients continue to suffer due to incomplete symptom resolution and side effects. AREAS COVERED: This manuscript examines Vortioxetine's role in Major Depressive Disorder (MDD) treatment, highlighting its potential to reshape therapeutic strategies due to its unique Multimodal action and proven broad-spectrum efficacy in multiple depressive domains...
March 27, 2024: Expert Review of Neurotherapeutics
https://read.qxmd.com/read/38536506/immunogens-in-balamuthia-mandrillaris-a-proteomic-exploration
#7
JOURNAL ARTICLE
Rosalía Alfaro-Sifuentes, Luis Fernando Lares-Jiménez, Saul Rojas-Hernández, María Maricela Carrasco-Yépez, Diego Alexander Rojas-Ortega, Libia Zulema Rodriguez-Anaya, Jose Reyes Gonzalez-Galaviz, Fernando Lares-Villa
Balamuthia mandrillaris is the causative agent of granulomatous amoebic encephalitis, a rare and often fatal infection affecting the central nervous system. The amoeba is isolated from diverse environmental sources and can cause severe infections in both immunocompromised and immunocompetent individuals. Given the limited understanding of B. mandrillaris, our research aimed to explore its protein profile, identifying potential immunogens crucial for early granulomatous amoebic encephalitis diagnosis. Cultures of B...
March 27, 2024: Parasitology Research
https://read.qxmd.com/read/38536473/interaction-between-baseline-bmi-and-baseline-disease-severity-predicts-greater-improvement-in-negative-symptoms-in-first-episode-schizophrenia
#8
JOURNAL ARTICLE
Xiaobing Sun, Ruiqing He, Yuan Xiao, Meihong Xiu, Maodi Sun, Fengchun Wu, Xiang Yang Zhang
Several studies have reported that baseline symptom severity in patients with schizophrenia (SCZ) is associated with the efficacy of antipsychotic medication. Overweight/obesity is common in SCZ and has also been reported to be correlated with therapeutic response to antipsychotics. This study aimed to evaluate whether baseline body mass index (BMI) and disease severity were associated with improvements in negative symptoms in patients with first-episode and medication-naïve (FEMN) SCZ. A total of 241 FEMN patients were recruited in this study and treated with oral risperidone over 3 months...
March 27, 2024: European Archives of Psychiatry and Clinical Neuroscience
https://read.qxmd.com/read/38536451/helmet-therapy-efficacy-and-its-prediction-in-japanese-infants-with-positional-plagio-and-brachycephaly
#9
JOURNAL ARTICLE
Yasuo Aihara, Kentaro Chiba, Takakazu Kawamata
PURPOSE: To provide additional information on optimal start times and therapeutic effectiveness based on treatment outcome of Japanese infants with positional plagio- and brachycephaly (PPB) receiving cranial molding helmet therapy (CMHT). METHODS: In this retrospective cohort study, data from a 3D head scanning system was analyzed from 2173 Japanese infants who completed CMHT. Anterior and posterior symmetry ratio (ASR and PSR) and longitudinal to transverse diagonal ratios (LD/TDR) were calculated based on skull shape at helmet design and at completion of therapy...
March 27, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38536450/surgical-management-of-chiari-ii-malformation-a-systematic-review-of-literature
#10
REVIEW
Rafael C C Vencio, Adriano M Lino-Filho, Renata C F Bonfim, Nayara M Pereira, Cilmária L Franco, Paulo Ronaldo J Ribeiro, Bárbara A Morais
PURPOSE: Chiari II malformation (CM-II) is a congenital malformation of the posterior fossa associated with myelomeningocele. Of the symptomatic patients, 10-33% require surgical treatment. To this date, there is not a consensus about the best surgical technique, and whether to do duroplasty. METHODS: A literature search of the PubMed database and crossed references was performed, per PRISMA guidelines. Data regarding demographic features, extent of cervicomedullary deformity, clinical presentation, surgical techniques, and clinical outcomes were extracted...
March 27, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://read.qxmd.com/read/38536448/arterial-spin-labelling-magnetic-resonance-imaging-and-perfusion-patterns-in-neurocognitive-and-other-mental-disorders-a-systematic-review
#11
REVIEW
Rita Ferreira, António J Bastos-Leite
We reviewed 33 original research studies assessing brain perfusion, using consensus guidelines from a "white paper" issued by the International Society for Magnetic Resonance in Medicine Perfusion Study Group and the European Cooperation in Science and Technology Action BM1103 ("Arterial Spin Labelling Initiative in Dementia"; https://www.cost.eu/actions/BM1103/ ). The studies were published between 2011 and 2023 and included participants with subjective cognitive decline plus; neurocognitive disorders, including mild cognitive impairment (MCI), Alzheimer's disease (AD), frontotemporal lobar degeneration (FTLD), dementia with Lewy bodies (DLB) and vascular cognitive impairment (VCI); as well as schizophrenia spectrum disorders, bipolar and major depressive disorders, autism spectrum disorder, attention-deficit/hyperactivity disorder, panic disorder and alcohol use disorder...
March 27, 2024: Neuroradiology
https://read.qxmd.com/read/38536200/incidence-risk-factors-and-outcome-of-asymptomatic-central-nervous-system-involvement-in-adult-patients-with-acute-myeloid-leukemia
#12
JOURNAL ARTICLE
Marijana Virijevic, Nada Kraguljac-Kurtovic, Mirjana Mitrovic, Ljubomir Jakovic, Zoran Bukumuric, Nikola Pantic, Nikica Sabljic, Zlatko Pravdic, Mirjana Cvetkovic, Vesna Knezevic, Tijana Dragovic-Ivancevic, Irena Djunić, Jovan Rajic, Violeta Milosevic, Milena Todorovic-Balint, Ana Vidovic, Nada Suvajdzic-Vukovic
Examination of central nervous system (CNS) involvement is not routine diagnostic practice in adult patients with acute myeloid leukemia (AML). Therefore, many asymptomatic patients with CNS involvement might go undetected. The effect of CNS involvement on the AML disease course is not well defined, with conflicting results regarding clinical outcome. This study aimed to determine the incidence of asymptomatic CNS involvement in AML estimated by multiparametric flow cytometry of cerebrospinal fluid (MFC-CSF) at diagnosis, the related potential risk factors, and prognosis...
March 2024: Hematological Oncology
https://read.qxmd.com/read/38536197/adamts5-promotes-permeability-of-the-blood-brain-barrier-during-treponema-pallidum-subspecies-pallidum-invading-the-central-nervous-system
#13
JOURNAL ARTICLE
Zuoxi Chen, Fangzhi Du, Ruihua Zhang, Qingyun Wu, Zhiyu Lu, Rui-Li Zhang, Qianqiu Wang
The pathogenesis of neurosyphilis remains unclear. A previous study found a noteworthy up-regulation of a disintegrin and metalloproteinase with thrombospondin type 1 motif 5 (ADAMTS5) gene in human brain microvascular endothelial cells cocultured with Treponema pallidum subspecies pallidum (Tp). To investigate the ADAMTS5 role in Tp invading the central nervous system (CNS), we conducted relevant experiments. Our study revealed that Tp caused an increase in human cortical microvascular endothelial cell/D3 (hCMEC/D3) barrier permeability and significantly enhanced ADAMTS5 expression...
March 27, 2024: ACS Infectious Diseases
https://read.qxmd.com/read/38536127/the-impact-of-low-energy-partially-hydrolysed-enteral-formula-on-gastrointestinal-symptoms-and-weight-in-children-with-neurological-impairment-a-multicentre-retrospective-study
#14
JOURNAL ARTICLE
Graeme O'Connor, Martha Van Der Linde, Zoltan Hartfiel Capriles
BACKGROUND: Neurological impairment (NI) relates to disorders of the central nervous system. The specific aetiology of NI varies but includes genetic, congenital abnormalities or brain injury. In children with severe NI, feeding impairments can lead to undernutrition, and some children require a feeding tube. Although tube feeding improves overall nutritional status, it has also been associated with excess body fat. Commercially available enteral formulas that are low in energy, hydrolysed and nutritionally adequate for protein and micronutrients are available to mitigate gastrointestinal symptoms and obesity...
March 27, 2024: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
https://read.qxmd.com/read/38536118/ionic-rectification-by-dynamic-regulation-of-the-electric-double-layer-at-the-hydrogel-interface
#15
JOURNAL ARTICLE
Yaowen Ouyang, Xiang Li, Shaoxin Li, Zhong Lin Wang, Di Wei
Hydrogels play a pivotal role in the realm of iontronics, contributing to the realization of futuristic human-machine interactions. The electric double layer (EDL) between the hydrogel and electrode provides an essential ionic-electronic coupling interface. While prior investigations primarily delved into elucidating the formation mechanism of the EDL, our study shifts the focus to showcasing the current generation through the mechanical modulation of the EDL at the hydrogel-metal interfaces. The dynamic EDL was constructed by the mechano-driven contact-separation process between the polyacrylamide (PAAm) hydrogel and Au...
March 27, 2024: ACS Applied Materials & Interfaces
https://read.qxmd.com/read/38536048/mixed-connective-tissue-disease-presenting-with-psychosis-a-case-report
#16
JOURNAL ARTICLE
Nikhil Tondehal, Arnab Sengupta, Kavya Mohankumar, Chintan Trivedi, Zeeshan Mansuri, Shailesh Jain
Mixed connective tissue disease (MCTD) is a systemic autoimmune disease with features overlapping multiple autoimmune disorders. One study found that over 55% of patients with MCTD experienced neuropsychiatric symptoms, the most common of which was an "aseptic meningitis-like syndrome." We present a case of a 17-year-old adolescent girl presenting with abnormal speech and behavior, auditory hallucinations, and paranoid delusions after an isolated episode of fever. She was treated for her psychotic symptoms but later developed symptoms resembling neuroleptic malignant syndrome...
April 1, 2024: Journal of Nervous and Mental Disease
https://read.qxmd.com/read/38536047/restoring-trust-for-people-with-psychosis-through-psychotherapy
#17
JOURNAL ARTICLE
Jeremy M Ridenour, Jay A Hamm, Courtney N Wiesepape, Benjamin Buck
Mistrust is a significant problem for people with psychosis and can interfere with their capacity to engage in psychosocial treatment. In this article, the developmental trajectory of mistrust is outlined, including the impact that attachment disruption, childhood trauma, attributional biases, internalized stigma, and discrimination can have on the person's capacity to form trusting bonds with others. After this review, three elements are described that may allow for the restoration of trust: the therapist's openness to understanding the patient's experience and agenda for therapy, the therapist's effort to honestly disclose their thoughts to encourage dialogue and mutual reflection, and therapist's attempt to promote metacognition through helping the patient develop more complex representations of the minds of others...
April 1, 2024: Journal of Nervous and Mental Disease
https://read.qxmd.com/read/38536046/what-happens-next-maintenance-of-gains-after-discharge-from-va-residential-ptsd-treatment
#18
JOURNAL ARTICLE
Peter P Grau, Ilan Harpaz-Rotem, Mark A Ilgen, Dara Ganoczy, Rebecca K Sripada
Residential posttraumatic stress disorder (PTSD) treatment in the Department of Veterans Affairs is helpful for many Veterans, yet the majority experience symptom rebound after discharge. This study examined a national cohort of Veterans (n = 1872) who completed VA residential PTSD treatment and identified factors associated with maintenance of gains from discharge to 4-month follow-up. We generated three logistic regression models based on response profiles during residential treatment. In the "marginal responders" group, 1-3 "booster" sessions of PTSD treatment were associated with decreased odds of maintenance of gains (odds ratio [OR], 0...
April 1, 2024: Journal of Nervous and Mental Disease
https://read.qxmd.com/read/38536041/neurotic-disorders-in-children-and-adults-under-social-stress-neurosis-in-kids-and-adults-social-stress
#19
JOURNAL ARTICLE
Sergii Boltivets, Tymur Gonchar, Oleksiy Gonchar, Lyudmila Uralova, Yuliya Chelyadyn
The relevance of the research subject is to explore the neurotic disorders that arise in people affected by the Russian-Ukrainian war and who witness violence and war crimes. The purpose of the research is to reflect the specific features of the mental reaction of children and adults to military actions as an example of global social stress. Bibliographic, bibliosemantic, and statistical research methods were used in the research. Since the beginning of the full-scale invasion, the number of patients with prolonged depression and schizophrenia has increased, and neurotic disorders has become more severe and acute...
March 13, 2024: Journal of Nervous and Mental Disease
https://read.qxmd.com/read/38536039/the-nature-of-combat-stress-development-during-military-operations-and-psychotherapy-in-extreme-situations
#20
JOURNAL ARTICLE
Yanina Ovsyannikova, Diana Pokhilko, Mykola Krasnokutskyi, Valentyn Kerdyvar, Kateryna Kreshchuk
The purpose of the research work is the theoretical and empirical analysis of the study of the nature of combat stress in military personnel and the assessment of psychotherapeutic methods of providing psychological assistance in extreme situations. The authors used the following methods to achieve this goal: method of analysis and synthesis, hermeneutic method, testing method, comparative method, and generalization method. The results of the research work have revealed the meaning of traumatic stress, psychological trauma, and combat mental trauma, and explained the concept of combat stress and the dynamics of its growth...
March 13, 2024: Journal of Nervous and Mental Disease
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