Non-obstructive hypertrophic cardiomyopathy, or apical hypertrophic cardiomyopathy (ApHCM), also referred to as Yamaguchi syndrome, is a type of hypertrophic cardiomyopathy (HCM) characterized by significant thickening of the left ventricular apex without blockage in the left ventricular outflow tract. It is a very rare variant of HCM. Patients with non-obstructive HCM often experience symptoms such as chest pain, palpitations, shortness of breath, and syncope, which may resemble those seen in various cardiovascular and non-cardiac conditions. Yamaguchi syndrome presents as a challenging yet manageable condition in the ED. Early recognition, accurate diagnosis, and appropriate management are crucial for better outcomes. We report a case of a young female who presented to the ED with breathlessness and chest pain. The ECG findings suggested acute coronary syndrome (ACS), but echocardiography and cardiac biomarkers indicated otherwise, leading to the diagnosis of Yamaguchi Syndrome.
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http://dx.doi.org/10.7759/cureus.66809 | DOI Listing |
Gynecol Oncol Rep
February 2025
Department of Obstetrics and Gynecology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.
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Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, 47-1 Nodayama, Medeshima-Shiode, Natori, Miyagi 981-1293, Japan.
A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.
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January 2025
Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto 390-8621, Japan.
Background/objectives: The gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and is assigned as DFNB18B. To date, 44 causative variants have been reported to cause non-syndromic hearing loss. However, the detailed clinical features for -associated hearing loss remain unclear.
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January 2025
Department of Orthopaedic Surgery, Graduate School of Medical and Pharmaceutical Sciences, Chiba University, 1-8-1 Inohana, Chuo-ku, Chiba-shi, Chiba 260-8670, Japan.
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January 2025
Ogori Daiichi General Hospital, Yamaguchi-ken, Japan.
In carpal tunnel syndrome (CTS), pain and sensory disturbance are the main symptoms, but thumb palmar abduction (TPA) paralysis cannot be ignored as a concurrent symptom. The reliable quantitative measurement of TPA power was not established. The purpose of this study was to report on the reliability of TPA strength measurements by the hand-held dynamometry (HHD) in large samples of CTS and its superiority over other tests, including grip, pinch powers, TPA angles and manual muscle testing, in terms of clinical progress indicators.
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