Internal medicine
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A 74-year-old Japanese man was admitted to our hospital for catheter ablation of paroxysmal atrial fibrillation. Transthoracic echocardiography revealed basal interventricular septal hypertrophy without apical sparing. Cardiac magnetic resonance imaging revealed late gadolinium enhancement in the hypertrophic lesions. ⋯ A skin biopsy revealed transthyretin (TTR) amyloid deposition. A TTR gene examination revealed no variants. This case suggests that amyloid deposition in TTR may occur in the basal area of the interventricular septum.
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Neurofibromatosis type 1 (NF1) is an autosomal dominant multi-organ disease. The clinical manifestations include not only skin lesions and malignant tumors but also lung complications, including pulmonary arterial hypertension (PAH). ⋯ We herein report a case of isolated PAH in a 67-year-old woman with NF1, presumably caused by a novel heterozygous mutation, c.4485_4486delinsAT (p. Lys1496Ter), in the NF1 gene.
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A six-year-old boy presented with short stature and gingival fibromatosis (GF). Dysmorphic features included slant optic fissures, a high-arched palate, thick earlobes, and an edematous face. Laboratory tests showed low levels of serum insulin-like growth factor-1 and serum free thyroxine but normal serum thyrotropin levels. ⋯ At 12 years old, hypogonadotropic hypogonadism was observed. Next-generation sequencing revealed a heterozygous missense variant, KCNQ1 p. (P369L), in the proband and mother. The coexistence of multiple pituitary hormone deficiencies and GF helps diagnose KCNQ1-variant dysmorphic syndrome through genetic testing.
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Necrotizing fasciitis (NF) is a life-threatening disease with high mortality and rapidly progressive clinical manifestations1. Early detection and surgical management coupled with antibiotic treatment are crucial for the survival, and the patient survival is heavily dependent on clinical decisions2,3. However, it is not widely known that NF does not always follow a typical clinical course, and there have been no case reports of NF following an atypical clinical course. ⋯ We encountered a challenging case presenting with an atypical clinical course. We herein report a 31-year-old man who followed a deteriorating biphasic-like clinical course and presented with extensive NF and streptococcal toxic shock syndrome due to Group A Streptococcus. This case serves to inform physicians of the existence of NF with an atypical and deteriorating biphasic-like clinical course, emphasizing the need for a careful evaluation of the patient condition.
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Objective To determine whether nutritional status is related to the incidence of thrombosis and mortality in patients with Coronavirus disease 2019 (COVID-19). Methods A total of 496 consecutive patients who were admitted and diagnosed with COVID-19 between April 2020 and March 2023 were retrospectively analyzed. The geriatric nutritional risk index (GNRI) on admission was calculated as follows: 14.89×serum albumin (g/dL) +41.7×body mass index/22. ⋯ During hospitalization, the composite endpoint was observed in 32 patients. In the logistic regression analysis, a low GNRI was significantly associated with the composite endpoint adjusted using inverse probability of treatment weighting (odds ratio, 3.24; 95% confidence interval: 1.51-6.93, p<0.05). Conclusion Assessment of the GNRI provides useful information for predicting in-hospital thrombosis and mortality in COVID-19 patients.