- Specificities of Meningitis and Meningo-Encephalitis After Kidney Transplantation: A French Retrospective Cohort Study. [Journal Article]Transpl Int. 2023; 36:10765.TI
- Kidney transplant recipients develop atypical infections in their epidemiology, presentation and outcome. Among these, meningitis and meningoencephalitis require urgent and adapted anti-infectious therapy, but published data is scarce in KTRs. The aim of this study was to describe their epidemiology, presentation and outcome, in order to improve their diagnostic and management. We performed a ret…
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- A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands. [Journal Article]Front Endocrinol (Lausanne). 2022; 13:1033074.FE
- CONCLUSIONS: Our data suggest that NR5A1 has unidentified endogenous ligands or co-activators that selectively potentiate the transcriptional function of NR5A1 in vivo.
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- When herpes simplex virus encephalitis meets antiviral innate immunity. [Review]Front Immunol. 2023; 14:1118236.FI
- Herpes simplex virus (HSV) is the most common pathogen of infectious encephalitis, accounting for nearly half of the confirmed cases of encephalitis. Its clinical symptoms are often atypical. HSV PCR in cerebrospinal fluid is helpful for diagnosis, and the prognosis is usually satisfactory after regular antiviral treatment. Interestingly, some patients with recurrent encephalitis have little anti…
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- Association of Radiology Findings with Etiology of Community Acquired Pneumonia Among Children from the Etiology of Pneumonia in the Community (EPIC) Study. [Journal Article]J Pediatr. 2023 Jan 31 [Online ahead of print]JPed
- CONCLUSIONS: Consolidation predicted typical bacterial CAP poorly, but its absence made typical bacterial CAP unlikely. Pleural effusion was the best predictor of typical bacterial infection, but too uncommon to aid etiology prediction.
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- Evidence for upregulation of excitatory synaptic transmission in the substantia nigra in Schizophrenia: a postmortem ultrastructural study. [Journal Article]J Neural Transm (Vienna). 2023 Feb 03 [Online ahead of print]JN
- The dopamine hypothesis of schizophrenia suggests that psychotic symptoms originate from dysregulation of dopaminergic activity, which may be controlled by upstream innervation. We hypothesized that we would find anatomical evidence for the hyperexcitability seen in the SN. We examined and quantified synaptic morphology, which correlates with function, in the postmortem substantia nigra (SN) from…
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- Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons. [Journal Article]
- Malformation of cortical development (MCD) is a family of neurodevelopmental disorders, which usually manifest with intellectual disability and early-life epileptic seizures. Mutations in genes encoding microtubules (MT) and MT-associated proteins are one of the most frequent causes of MCD in humans. KIF2A is an atypical kinesin that depolymerizes MT in ATP-dependent manner and regulates MT dynam…
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- Papillary Dermal Elastolysis Histopathology Mimicking Folliculotropic Mycosis Fungoides. [Case Reports]J Cutan Pathol. 2023 Feb 02 [Online ahead of print]JC
- Papillary dermal elastolysis is a rare acquired disease of the elastic tissue that mainly affects elderly women with a clinical presentation of small firm papules in the neck, the supraclavicular areas and the upper back. Histopathologically, it is characteristic to find a complete or almost complete absence of elastic fibers in the papillary dermis with stains such as orcein or Verhoeff-Van Gies…
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- A clinician's perspective on the role of imaging in knee osteoarthritis in clinical practice. [Review]Skeletal Radiol. 2023 Feb 02 [Online ahead of print]SR
- Knee osteoarthritis (OA) is a highly prevalent and disabling disease. Most persons age 45 and over with chronic knee pain have OA and with characteristic history and physical findings, diagnostic imaging is usually not necessary. Further, treatment of chronic knee pain with or without evidence of OA is similar, so imaging does not usually alter therapy. The exception is atypical presentations, su…
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- Atypical location of primary cardiac lymphoma in the left heart with atypical clinical presentation: A case report and literature review. [Case Reports]
- CONCLUSIONS: Early diagnosis and a precise choice of chemotherapy and immunotherapy based on cardiac imaging and pathological examination may improve the prognosis of PC-DLBCL in an atypical location.
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- Absence of VGLUT3 expression leads to impaired fear memory in mice. [Journal Article]eNeuro. 2023 Jan 30 [Online ahead of print]E
- Fear is an emotional mechanism that helps to cope with potential hazards. However, when fear is generalized it becomes maladaptive and represents a core symptom of Post-Traumatic Stress Disorder (PTSD). Converging lines of research show that dysfunction of glutamatergic neurotransmission is a cardinal feature of trauma and stress related disorders such as PTSD. However, the involvement of glutama…
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- Epidemiological data of national Kawasaki disease registry in Iran, 2007-2019. [Journal Article]
- CONCLUSIONS: Based on this study, most of the KD cases are presented with atypical presentation in Iran. So, increasing awareness of primary healthcare workers by educating and updating their data is very important in timely diagnosis and management of the disease.
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- P300 event-related potentials in patients with different subtypes of depressive disorders. [Journal Article]
- CONCLUSIONS: There are significant differences in auditory C3 and Pz latency among MEL, ATY, and ANX MDD. These differences could help diagnose the subtype of MDD.
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- Case report: A case of classic hairy cell leukemia with CNS involvement treated with vemurafenib. [Case Reports]
- Hairy cell leukemia (HCL) is a rare mature B-cell lymphoproliferative disorder and most often presents as classic hairy cell leukemia. This entity is characterized by an indolent course and the presence of the BRAF V600E mutation. We report the case of an 80-year-old man with a history of classical hairy cell leukemia who presented with fatigue, dizziness, shortness of breath, blurring of vision,…
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- Spinal meningiomas, from biology to management - A literature review. [Review]
- Meningiomas arise from arachnoidal cap cells of the meninges, constituting the most common type of central nervous system tumors, and are considered benign tumors in most cases. Their incidence increases with age, and they mainly affect females, constituting 25-46% of primary spinal tumors. Spinal meningiomas could be detected incidentally or be unraveled by various neurological symptoms (e.g., b…
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- Early hepatoid adenocarcinoma of the stomach with signet ring cell carcinoma: A case report and clinicopathological features. [Case Reports]
- CONCLUSIONS: HAS with signet ring cell carcinoma is a special type of HAS and extremely rare. It is first presented for this extremely rare type of HAS, which contributes to strengthen the understanding for the clinicopathological characteristics of HAS and especially promote early detection of HAS.
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- Case report: Dupilumab treatment improved type 2 disorders in a patient with IPEX syndrome diagnosis. [Case Reports]
- We described a case of IPEX syndrome successfully controlled with dupilumab, an anti-IL4 receptor alpha subunit inhibitor. IPEX syndrome is a rare and generally fatal genetic disorder characterized by immune dysregulation, polyendocrinopathy and enteropathy, mostly diagnosed in early childhood. Nonetheless, cases reported in the last 20 years demonstrated that IPEX clinical spectrum encompasses m…
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- ACKR3 promotes CXCL12/CXCR4-mediated cell-to-cell-induced lymphoma migration through LTB4 production. [Journal Article]
- Chemotaxis is an essential physiological process, often harnessed by tumors for metastasis. CXCR4, its ligand CXCL12 and the atypical receptor ACKR3 are overexpressed in many human cancers. Interfering with this axis by ACKR3 deletion impairs lymphoma cell migration towards CXCL12. Here, we propose a model of how ACKR3 controls the migration of the diffused large B-cell lymphoma VAL cells in vitr…
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- Case report: Area of focus in a case of malignant hypertension. [Case Reports]
- Malignant hypertension (MH) is characterized by severe hypertension (usually grade 3) associated with fundoscopic changes (flame hemorrhages and/or papilledema), microangiopathy and disseminated intravascular coagulation. In addition encephalopathy, acute heart failure and acute deterioration in renal function may be present. The term "malignant" reflects the very poor prognosis for this conditio…
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- Epicardial high-resolution mapping of advanced interatrial block: Relating ECG, conduction abnormalities and excitation patterns. [Journal Article]
- CONCLUSIONS: A transverse line of CB across BB partly explains the ECG characteristics of a-IAB. We found atrial excitation patterns underlying the ECG characteristics of both atypical and typical a-IAB. Regardless of the presence of a-IAB, the clinical impact of a complete transverse line of CB across BB was reflected by a high incidence of de novo EPOAF.
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- Standardization and normative data of the 48-item Yoni short version for the assessment of theory of mind in typical and atypical conditions. [Journal Article]
- The Yoni task is a computerized tool assessing first-and second-order affective and cognitive Theory of Mind (ToM), accounting for the multidimensional and multi-level mentalizing features. The Italian Yoni task has been validated and standardized in its 98-item version, and a 48-item short version has been proposed for a quick digital evaluation of ToM in clinical contexts.
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- Machine learning in biosignals processing for mental health: A narrative review. [Review]
- Machine Learning (ML) offers unique and powerful tools for mental health practitioners to improve evidence-based psychological interventions and diagnoses. Indeed, by detecting and analyzing different biosignals, it is possible to differentiate between typical and atypical functioning and to achieve a high level of personalization across all phases of mental health care. This narrative review is …
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- Variation in morpho-lexical development within and between diagnoses in children with neurodevelopmental disorders. [Journal Article]
- While primary diagnosis is only one aspect of the presentation of a child with neurodevelopmental delay/disorder, the degree to which early expressive language reflects diagnostic divisions must be understood in order to reduce the risk of obscuring clinically important differences and similarities across diagnoses. We present original data from the New Zealand MacArthur-Bates Communicative Devel…
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- Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. [Journal Article]Am J Med Genet A. 2023 Jan 29 [Online ahead of print]AJ
- Sturge-Weber Syndrome (SWS) is a rare vascular malformation disorder characterized by abnormal blood vessels in the brain, skin, and eye. SWS is most commonly caused by a somatic mosaic GNAQ-p.Arg183Gln variant. In this series, 12 patients presented for clinical evaluation of SWS but were noted to have atypical features, and therefore germline and/or somatic genetic testing was performed. Atypica…
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- Dedifferentiated leiomyosarcoma of the uterus: A clinicopathologic and immunohistochemical analysis of 23 cases. [Journal Article]Histopathology. 2023 Jan 27 [Online ahead of print]H
- CONCLUSIONS: Routine prospective recognition of dedifferentiated uterine LMS and distinction from mimics is advocated for accurate prognostication and for further characterization of these tumors.
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- Genome-wide identification and analysis of the NLR gene family in Medicago ruthenica. [Journal Article]
- Medicago ruthenica, important forage in the legume family, possesses high nutritional value and carries abundant tolerance genes. This study used whole-genome data of M. ruthenica to perform a genome-wide analysis of the nucleotide-binding site-leucine-rich repeat receptor (NLR) gene family, which is the largest family of plant disease resistance genes (R genes). A total of 338 NLR genes were ide…
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- Damage mapping techniques and the light they have shed on canonical and atypical UV photoproducts. [Review]
- Ultraviolet (UV) light is a pervasive threat to the DNA of terrestrial organisms. UV light induces helix-distorting DNA lesions, primarily cyclobutane pyrimidine dimers (CPDs) that form between neighboring pyrimidine bases. Unrepaired CPD lesions cause cytosine-to-thymine (C>T) substitutions in dipyrimidine sequences, which is the predominant mutation class in skin cancer genomes. However, many d…
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- Diagnostic challenge in a series of eleven patients with hyper IgE syndromes. [Journal Article]
- Hyper IgE syndromes (HIES) is a heterogeneous group of Inborn Errors of Immunity characterized by eczema, recurrent skin and lung infections associated with eosinophilia and elevated IgE levels. Autosomal dominant HIES caused by loss of function mutations in Signal transducer and activator of transcription 3 (STAT3) gene is the prototype of these disorders. Over the past two decades, advent in ge…
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- Case report: Mounded and refractory keratoses (MARK), a novel presentation of pemphigus vulgaris. [Case Reports]
- Pemphigus vulgaris (PV) is a rare immunobullous disease. Although it classically presents as generalized flaccid blisters affecting the skin and mucosae, atypical cases of PV can be diagnostically challenging. Herein, we report an underrecognized non-blistering manifestation of pemphigus vulgaris, which we call mounded and refractory keratoses (MARK). MARK presents as exuberant scaling plaques on…
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- Atypical Spindle Cell and Pleomorphic Lipomatous Tumor of the Ocular Adnexa: Two Cases of a Rare Entity. [Journal Article]Ophthalmic Plast Reconstr Surg. 2022 Nov 17 [Online ahead of print]OP
- Atypical spindle cell and pleomorphic lipomatous tumor (ASCPLT) is a rare lipomatous neoplasm that was recently introduced into the World Health Organization Classification of Soft Tissue and Bone tumors as a distinct entity. ASCPLT has potential for local recurrence but does not metastasize. This biologic behavior separates ASCPLT from its morphologic mimics. Ocular adnexal ASCPLT has not been p…
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- Deep Brain Stimulation of the Centromedian Nucleus of the Thalamus for Lennox-Gastaut Syndrome: A Systematic Review and Individual Patient Data Analysis. [Journal Article]Neurosurgery. 2022 Dec 30 [Online ahead of print]N
- CONCLUSIONS: Limited data indicate that DBS of the CMN may be effective and safe for people with LGS.
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