January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.
9 citations
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October 2017 in “Archivos Argentinos de Pediatria” This review discusses the clinical features, diagnosis, and treatment of alopecia areata, while investigating potential genetic, environmental, and immunological factors involved in its etiology, but reports no new findings.
34 citations
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October 2017 in “Archivos Argentinos De Pediatria” This review discusses the clinical characteristics, diagnosis, and treatment of alopecia areata, exploring potential environmental, immunological, and genetic factors involved in its development, but reports no new research findings.
117 citations
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May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
17 citations
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September 2020 in “Journal of Endocrinological Investigation” This study found that the gut microbiota composition in patients with post-finasteride syndrome differs significantly from healthy controls, with reduced diversity and specific microbial changes, suggesting a potential diagnostic marker and therapeutic target.
12 citations
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May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
11 citations
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September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” This study found that a simplified classification based on clinical and morphological features may aid in the diagnosis and initial management of inherited keratinizing disorders, although genetic analysis is essential for definitive diagnosis.
January 2025 in “Epsilon Archive for Student Projects (University of Southampton)” In this study investigating goat herds in Zambia, both mange and orf were detected, but with low occurrence linked to diagnostic challenges and mild clinical signs; further research, especially in conditions favoring mange mites, is recommended to better understand and manage these diseases.
January 2024 in “Wiadomości Lekarskie” This study highlights the growing role of artificial intelligence in vascular surgery, where AI improves diagnostic accuracy, surgical planning, and patient monitoring, ultimately enhancing clinical outcomes, shortening recovery times, and reducing healthcare costs.
January 2024 in “Wiadomości Lekarskie” This review addresses the historical and cultural perceptions of epilepsy and stresses the importance of understanding its diagnosis and management to lessen its psychological and social impacts, especially given the stigma often associated with this condition.
January 2024 in “Wiadomości Lekarskie” In this study, the integration of artificial intelligence in medicine was discussed, highlighting its potential to enhance diagnostic processes, optimize therapies, and provide advanced patient monitoring despite challenges like data inconsistency and limited model transparency.
March 2013 in “Actas Dermo-Sifiliográficas” This review discusses recent advancements in dermatopathology, including molecular biology techniques and diagnostic innovations, and reports no new experimental findings.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that 6.1% of new patients seeking PRP therapy for hair loss had undiagnosed cicatricial alopecia, highlighting the importance of proper diagnosis by trained dermatologists to optimize treatment outcomes.
59 citations
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June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
25 citations
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March 2012 in “Journal of Dermatological Science” This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.
23 citations
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January 2005 in “Nihon Ishinkin Gakkai zasshi” This case study identified Trichophyton rubrum as the cause of trichophytia profunda acuta in a patient using nested PCR, suggesting an alternative diagnostic approach when KOH tests and cultures fail.
13 citations
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September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
5 citations
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January 2024 in “American Journal of Translational Research” This research highlighted that the gut microbiota may influence ovarian health, suggesting it could be used as a biomarker for early diagnosis and treatment of diseases like PCOS, ovarian insufficiency, and ovarian cancer due to its impact on hormone levels.
2 citations
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May 2025 in “Infection” This source underscores the need for a multidisciplinary effort to raise awareness of Demodex and demodicosis, suggesting that prioritizing research, diagnostics, and treatment development could enhance global health outcomes and improve quality of life for affected individuals.
2 citations
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October 2010 in “Reviews in Medical Microbiology” This review discusses syphilis and reports no new clinical findings; it highlights the need for improved prevention and diagnosis to address increasing infection rates globally and in Hungary.
In this expert consensus, the authors aimed to address the challenges of diagnosing and treating uncommon dermatophytoses due to their distinct characteristics and lack of standardized protocols, by providing scientific guidance on their epidemiology, clinical features, diagnosis, and treatment.
January 2026 in “Forum Dermatologicum” This study observed that 2.5% of patients with mycosis fungoides or Szary syndrome experienced alopecia, predominantly within skin lesions, with scalp metastases from other cancers also potentially causing hair loss, highlighting the diagnostic value of trichoscopy in differentiating alopecia types.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
September 2025 in “OBM Genetics” This case report describes a 9-month-old male infant with Netherton syndrome, highlighting the importance of early diagnosis and treatment initiation for better management of symptoms and prevention of misdiagnosis.
September 2024 in “Archives of Medical Science” Alopecia areata is linked to immune system differences, with specific biomarkers like CXCL9 and CXCL10 being key for diagnosis and potential treatment targets.
April 2024 in “Journal of cancer research and clinical oncology” This review discusses the isolation, characterization, and potential clinical applications of tissue-derived extracellular vesicles in cancer diagnosis, prognosis, and treatment, noting their significance but highlighting the risks and need for appropriate protocols.
February 2024 in “Scientific reports” This study identified four ferroptosis-related genes, SLC40A1, LCN2, CREB5, and SLC7A11, as potential diagnostic markers for alopecia areata, revealing reduced expression in affected patients compared to controls, with a predictive model showing high accuracy in differentiating the condition.