Результаты поиска

[Interpersonal diagnosis of personality pathology: countertransference as a source of information].

BACKGROUND: One of the defining characteristics of personality pathology is an interpersonal style that is experienced as problematic by the patient and/or others. Patients typically have little awareness of the dysfunctional effects of their interpersonal style. This represents a significant source of psychological suffering for both the patient and their social environment. Systematically recording countertransference helps both patient and psychiatrist to clarify these dysfunctional effects. AIM: To familiarize readers with the interpersonal paradigm that underlies the recording of counter…

Rare ABCA7 mutations in Alzheimer's disease and cerebral amyloid angiopathy pathology.

Rare mutations in the ATP binding cassette subfamily A member 7 (ABCA7) gene are known risk factors for Alzheimer's disease (AD). Genetic se … sis of vascular dementia (9 %) and cerebral amyloid angiopathy (CAA) (6 %). In line with this, neuropathology of the 14 examined carriers uncovered extensive levels of CAA and AD hallmarks. Carriers of an ABCA7 missense mutations displayed a less aggressive phenotype, with comparable onset but longer disease duration compared to carriers of a PTC mutation. …

Extracellular vesicles as novel mediators of pathology in Anderson-Fabry disease.

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by GLA mutations that reduce α-galactosidase A activity, leading to systemic accumulation of globotriaosylceramide (Gb3). Increasing evidence indicates that extracellular vesicles (EVs) contribute to pathogenic signal dissemination in lysosomal storage disorders. We hypothesized that EVs released from AFD-affected cells transfer toxic metabolites and molecular cues to recipient cells, thereby amplifying disease mechanisms. As a proof-of-concept study, urinary EVs were isolated from adults with AFD and healthy control

Echocardiography in Athletes: the Ever-Evolving Assessment of Physiology Versus Pathology.

PURPOSE OF REVIEW: This review article summarizes the established physiologic adaptations seen on echocardiogram in athletes and provides a … , among others. As the evaluation of cardiomyopathies changes with the growing understanding of the pathology, it is important that these updates are compared to the potential physiologic adaptation seen in athletic training. It is imperative for the practicing cardiologist to remain knowledgeable of these evolving guidelines.

DNAJB6a deficiency induces tau pathology through IRE1α-Xbp1-induced mitochondria dysfunction.

Endoplasmic reticulum (ER) stress and mitophagy have been indicated in the early stage of Alzheimer's disease (AD), in which tau hyperphosph … ochondria dysfunction. These findings highlight DNAJB6a as a potential key target for preventing AD pathology.

Revisiting the Role of Ultrasound in Pediatric Scrotal and Groin Pathology.

PURPOSE OF REVIEW: To perform a critical reassessment in advances in ultrasound technology and describe its use and misuse in the evaluation of common pediatric urology scrotal and groin pathologies. RECENT FINDINGS: While ultrasound capabilities have improved over time, there is still an overreliance on ultrasound in the diagnosis and management of pediatric urology conditions that can be diagnosed on history and physical examination, leading to delays in referral, delays in treatment, increased healthcare costs, and caregiver anxiety. Updates in ultrasound technology show promise of increasi

[Results of surgical treatment of pathology of the internal auditory canal].

OBJECTIVE: To evaluate the pre-, intraoperative data and the results of surgical treatment of patients with the internal auditory canal (IAC) pathology. MATERIAL AND METHODS: Preoperative pure tone audiometry, CT scans of the temporal bones and MRI scans of the cerebellopontine angles (CPA) and brain, intraoperative data, as well as postoperative results were analyzed in 92 patients with IAC pathology, who underwent surgery at the National Medical Research Center of Otorhinolaryngology of FMBA, Russian Federation. All patients were divided into two groups: 1) with true lesions of the IAC stru…

Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy.

Centronuclear myopathy (CNM) is a genetically heterogenous congenital myopathy traditionally classified as a membrane remodeling disorder. Emerging evidence reveals that centronuclear myopathy mutations converge upon common cellular dysfunction extending beyond membrane trafficking. This review proposes a unified model positioning CNM as a disorder of impaired organelle communication and structural crosstalk. We focus on how mutations in Myotubularin1 (MTM1) and gain-of-function mutations in Dynamin 2 (DNM2) disrupt the triad architecture, leading to aberrant calcium handling, mitochondrial dy

Individualized phenotyping of functional amyotrophic lateral sclerosis pathology in sensorimotor cortex.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the loss of motor neurons in primary motor cortex, leading to muscle weakness, atrophy and death within a median of 3 years. Even though ALS is characterized by different disease subtypes affecting different body parts, individualized phenotyping of functional ALS pathology has so far not been achieved. We recorded 7 Tesla functional MRI data while ALS patients and matched controls moved affected and non-affected body parts in the MR scanner. We applied robust Shared Response Modelling for capturing…

Vulvar Itching and Pain Without Skin Pathology: Is Vulvodynia the Diagnosis?

Vulvar itching and pain are common dermatologic complaints that affect individuals of all ages. The diagnosis of vulvodynia should be considered in children and adolescents with vulvar symptoms in the absence of skin pathology and negative workup for other diagnoses. Vulvodynia is defined as vulvar pain that has been present for at least 3 months without an identifiable cause with potential associated factors. Here, we report two cases of adolescents with vulvar itching and pain who presented to the multidisciplinary vulvar dermatology clinic and review the diagnostic approach and treatment op…

Unveiling a Rare Pathology: Case Report of Carcinosarcoma of the Gallbladder.

INTRODUCTION AND IMPORTANCE: Gallbladder carcinosarcoma (GBCS) is a rare and aggressive biliary tract malignancy, constituting approximately 1.7% of gallbladder cancers, with fewer than 100 cases reported in the English literature as of 2023. These tumors, often affecting gynecological organs, feature both carcinomatous and sarcomatous components. They predominantly occur in females, with a mean presentation age of 66 years. Diagnosis is primarily based on pathological analysis, and the mainstay of treatment is surgical excision. PRESENTATION OF CASE: We present a case of an 81-year-old femal

Inflammatory plasma transfer induces early ovarian CD8+ accumulation without overt pathology.

Autoimmune-associated reproductive dysfunction is frequently linked to ovarian immune infiltration and circulating ovarian autoantibodies, yet it remains unclear whether circulating factors alone can initiate immune changes in the ovary before overt histopathology is detectable. In prior work using interferon-γ (IFN-γ) AU-rich element deletion (ARE) mice, chronic inflammation was associated with increased ovarian CD8+ T cell infiltration and reproductive dysfunction. Here, we tested whether circulating factors from ARE mice are sufficient to induce early ovarian immune remodeling in healthy ho…

Incisor pathology in wild muskoxen (Ovibos moschatus) from the Canadian Arctic.

Dental lesions are often painful and can impair digestive efficiency and fitness in mammals, consequently leading to systemic health complic … ined 243 mandibles from harvested muskoxen and identified and described both gross and radiographic pathology. The most frequent lesion was enamel infractions, characterized by linear cracks along lingual enamel surfaces, which was present in 91.4% (222/243) of individuals. Incisor fractures, which featured at least one incisor with a complicated crown frac …

Cholesterol dysregulation in APOE4 astrocytes promotes α-synuclein pathology in miBrains.

The pathological hallmarks of neurodegeneration are the aberrant post-translational modification and aggregation of proteins. Genetic factor … rmed the presence of diverse cell populations and revealed transcriptional responses to α-synuclein pathology. Like the human brain, pathogenic α-synuclein is increased in APOE4/4 miBrains. Combinatorial experiments revealed that endolysosomal dysfunction caused by cholesterol accumulation in APOE4/4 astrocytes impairs the degradation of soluble α-synuclein …

Acriflavine attenuates inflammatory pathology in cutaneous leishmaniasis independently of parasite control.

Cutaneous leishmaniasis is a parasitic skin disease for which current treatments often fail, highlighting the need for new therapeutic approaches. While high parasite burdens are associated with delayed healing, excessive protective immune responses, including elevated IFN-γ production, have also been linked to worse clinical outcomes, indicating that immunopathology contributes significantly to disease progression. Acriflavine is an antimicrobial compound with reported anti-leishmanial activity and the ability to inhibit hypoxia-driven responses. Because Leishmania -infected skin is hypoxic i…

Риск передачи амилоидной патологии β через перелитые продукты крови.

Семенные белки неправильно завязываются и агрегируются для многих нейродегенеративных заболеваний. Архетипом являются прионы: только белковые инфекционные агенты, которые вызывают смертельные нейродегенеративные заболевания, включая болезнь Креуцфельда-Якоба (CJD). Недавнее признание иатрогенной амилоидной β церебральной ангиопатии (КАА) и болезни Альцгеймера, вызванной непреднамеренным посевом амилоидной патологии β в соответствии с историческими медицинскими процедурами, вызывает обеспокоенность в связи с тем, что эти заболевания могут также передаваться через компоненты и продукты крови, ка

Совпадение в аннотации оригинала
Seeded protein misfolding and aggregation are relevant to many neurodegenerative diseases. The archetype are prions: protein-only infectious … rebral amyloid angiopathy (CAA) and Alzheimer's disease, caused by inadvertent seeding of amyloid β pathology following historical medical procedures, raises concerns that these conditions might also be transmitted via blood components and products, as was the case in rare instances for variant CJD. Recent epidemiological data showing the apparent transmiss …

Cervical pathology: Diagnosis, treatment and management of patients with Human Papillomavirus.

OBJECTIVE: Aim: The objective of this literature review was to identify current aspects of the diagnosis, treatment, and management of patients with human papillomavirus. PATIENTS AND METHODS: Materials and Methods: 15 articles published from 2018 to 2024 were analyzed using the keywords: cervix, Papillomavirus, precancerous cervical pathology, cervical cancer, cervical screening, cytological method, colposcopy, cervical biopsy, for which a review of the available literature was conducted. Pubmed, Google Scholar, Web of Science, and Scopus databases were used to search for materials on curren…

Copy number variant scores are associated with cerebrovascular pathology in aging.

Late-onset Alzheimer's disease (LOAD) is the most common cause of dementia in older adults, with specific genomic copy number variants (CNVs) implicated in its pathology. However, the aggregate burden of genome-wide CNVs in dementia and age-related neuropathologies is uncharacterized. This study investigated the association between genome-wide CNV scores (CNV-S) and dementia, as well as LOAD-related neuropathologies, in 1011 elderly participants (mean age 88.06) from two ongoing US-based longitudinal clinical-pathological cohort studies who were initially dementia-free and consented to brain d…

When to Consider AIH-PBC Overlap Syndrome in the Pathology Report.

Autoimmune hepatitis-primary biliary cholangitis (AIH-PBC) overlap syndrome remains a diagnostic challenge due to the absence of standardized criteria and the limitations of current frameworks, such as the Paris Criteria. In this retrospective study, we reviewed 71 liver biopsies flagged for possible overlap and reclassified them based on clinical diagnosis as AIH (n=21), PBC (n=17), or overlap syndrome (n=33), incorporating 74 clinically and pathologically confirmed AIH (n=42) and PBC (n=32) cases as external controls. Only 46% of flagged cases were confirmed as overlap, indicating a 54% over