Internal Medicine最新文献

The patient was a 36-year-old woman in the 34th week of pregnancy who presented with headache. Magnetic resonance imaging (MRI) revealed bilateral internal carotid artery (ICA) stenosis and inflammatory changes in the sphenoid sinus. No cerebral infarction was detected on diffusion-weighted magnetic MRI. She was diagnosed with ICA stenosis induced by sphenoid sinusitis and underwent surgical treatment with intravenous antibiotics and corticosteroids. Her headache improved, and MRI showed remarkable improvement in bilateral ICA stenosis and no cerebral infarction. Severe sinusitis can also cause ICA stenoses. An early diagnosis and appropriate treatment of causative sinusitis can improve ICA stenosis and prevent stroke.

Although sarcoid-like reactions are uncommon in colorectal cancer, they can coexist with other cancers. We herein report a 50-year-old woman with sigmoid adenocarcinoma and osseous sarcoid-like reactions that resembled metastases. Positron emission tomography-computed tomography revealed an uptake in the iliac bone and para-aortic lymph nodes. The depth of invasion indicates non-metastatic lesions. Bone and lymph node biopsies revealed epithelioid non-caseating granulomas with bone trabeculae, resulting in a final diagnosis of pathological T2N2aM0, Stage IIIB. When the expected depth of invasion differs from that of typical bone metastases, colorectal cancer-associated bone lesions should be evaluated for sarcoid-like reactions.

Objective Although the management of coronavirus disease 2019 (COVID-19) has improved, chemoprevention remains a challenge. We recently identified that ursodeoxycholic acid (UDCA) is associated with subclinical infection with severe acute respiratory syndrome coronavirus, implying a reduction in the severity of COVID-19. We analyzed a large medical database to assess the utility of UDCA in the reduction of COVID-19 severity. Methods This retrospective observational study was conducted using a large-scale healthcare administrative claims database. We extracted data on patients who were diagnosed with either chronic hepatitis B or C. Among them, patients >50 years of age diagnosed with COVID-19 before December 2022 were analyzed. Patients were divided into two groups: those with or without a prescription of UDCA. The primary outcome was the in-hospital mortality rate. A propensity score-matching analysis was performed using logistic regression. Results A total of 6,413 patients diagnosed with COVID-19 (UDCA group, n =579; non-UDCA group, n =5,834) were analyzed. The median age was 73.0 (IQR, 64.0-81.0) years, and 57.8% of the patients were men. The UDCA group had significantly more complications with liver cirrhosis, hepatocellular carcinoma, type 2 diabetes, and hypertension. The UDCA group had a higher in-hospital mortality rate than the non-UDCA group, even after propensity score matching (7.4% vs. 4.3%, p =0.03), whereas there was no difference in the risks of hospitalization, oxygen therapy, or ventilation. Conclusions Although the observed increase in mortality among UDCA users could have been due to unmeasured confounding factors, UDCA did not reduce the severity of COVID-19 in viral hepatitis patients.

A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. Subsequent investigations revealed low serum ceruloplasmin, increased urinary copper excretion, and a known mutation c.3809A>G (p.Asn1270Ser) in the copper-transporting enzyme P-type ATPase (ATP7B) gene, leading to a diagnosis of Wilson's disease. A previously unreported variant, i.e., c.3866A>T (p.Asp1289Val) was detected on the patient's other allele and was considered a novel mutation, classified as 'likely pathogenic' according to the American College of Medical Genetics guidelines.

Lysinuric protein intolerance (LPI) is an autosomal recessive disease and pulmonary alveolar proteinosis is a respiratory complication. A Japanese man in his 30s, diagnosed with LPI in infancy, was diagnosed with interstitial lung disease (ILD) similar to fibrotic nonspecific interstitial pneumonia (f-NSIP) based on the findings of a transbronchial lung cryobiopsy (TBLC). The pulmonary function deteriorated, and nintedanib was administered. Two years after initiation of nintedanib therapy, the patient was hospitalized for an acute exacerbation of interstitial pneumonia. Corticosteroid pulse therapy was administered twice, but the patient died approximately one month after emergency hospitalization. This is the first report of a patient with LPI diagnosed with ILD similar to f-NSIP using a cryobiopsy and who was treated with nintedanib.

Objective Spastic paraplegia 7 (SPG7) is an autosomal recessive neurodegenerative disorder caused by biallelic pathogenic variants in SPG7. It is predominantly characterized by adult-onset slowly progressive spastic paraparesis. While SPG7 presenting with ataxia with or without spasticity is relatively common in Europe and North America, it is considered rare in Japan. This study aimed to identify SPG7 patients among those with undiagnosed ataxia within the Japanese population. Methods We retrospectively selected 351 patients with undiagnosed ataxia, excluding those with secondary and common spinocerebellar ataxia. Whole-exome sequence analysis was conducted, and homozygosity of the identified variants was confirmed using droplet digital polymerase chain reaction (ddPCR). Results Among the 351 patients, 2 were diagnosed with SPG7, and homozygosity was confirmed by ddPCR. Both patients carried homozygous pathogenic variants in SPG7: c.1948G>A, p.Asp650Asn, and c.1192C>T, p.Arg398Ter (NM_003119.4). Clinically, both patients presented with progressive ataxia. In addition, Patient 1 exhibited partial ophthalmoplegia and spastic paraparesis, whereas Patient 2 demonstrated cerebellar ataxia without spasticity. Conclusion The rarity of SPG7 in Japan may be attributed to variation in the minor allele frequency of the c.1529C>T, p.Ala510Val variant, which is more prevalent in Europe and North America than in other areas.

Pseudohypoparathyroidism (PHP) is a rare disorder characterized by resistance to parathyroid hormone (PTH). Albright's hereditary osteodystrophy (AHO) is a characteristic physical condition associated with PHP. We herein report a 33-year-old Japanese man diagnosed with PHP type 1b who presented with hypocalcemia, preserved PTH secretion, decreased urinary cAMP and phosphate excretion (Ellsworth-Howard test), deletion of exons 5-7 in STX16, hypomethylation of A/B-DMR and AS1-DMR in the guanine nucleotide binding protein alpha stimulating gene. The patient did not have AHO or other comorbidities but showed digital clubbing during childhood. Although digital clubbing is rarely associated with PHP, it may represent a phenotype of this disorder.

Objective Metabolic-associated fatty liver disease (MAFLD) has only recently been proposed; therefore, the characteristics of patients with autoimmune hepatitis (AIH) and MAFLD remain unclear. This study evaluated the effect of MAFLD on AIH patients with AIH. Methods We reevaluated the Japanese Nationwide Survey of AIH in 2018, which involved a survey of patients diagnosed with AIH between 2014 and 2017. We categorized patients with AIH according to the presence or absence of MAFLD and compared the clinical characteristics between the two groups. Results A total of 427 patients (77 men and 350 women) were included in this study. The overall prevalence of MAFLD was 10.5%. Compared to AIH patients without MAFLD, AIH patients with MAFLD had the following characteristics at the time of the AIH diagnosis: (1) a higher body mass index, (2) a higher prevalence of hypertension, (3) mild elevation of hepatobiliary enzymes and total bilirubin, and (4) histologically progressive fibrosis. However, the levels of hepatobiliary enzymes and total bilirubin after treatment were significantly higher in AIH patients with MAFLD than in those without MAFLD. Conclusion AIH patients with MAFLD had characteristics different from those of AIH patients without MAFLD. These findings could help increase our understanding of patients with AIH with MAFLD.

A 45-year-old man was diagnosed with CML in the chronic phase and therefore was sequentially treated with imatinib, dasatinib, nilotinib, and ponatinib. Neither ABL1 point mutations nor any additional chromosomal abnormalities were detected. The patient's best response was a partial cytogenetic response to nilotinib treatment. The deletion of amino acid residues 184-274 and a 35 bp insertion after nucleotide 1423 of ABL1 were detected before ponatinib administration. Two years after ponatinib administration, the patient died of a traumatic brain hemorrhage 15 years after the CML diagnosis. He did not progress to blast crisis, possibly because of the emergence of a loss-of-function ABL1 splicing variant.

This report describes the case of a 29-year-old patient with chronic myeloid leukemia in the blast phase who underwent hematopoietic stem cell transplantation (HSCT) after living-donor liver transplantation. Donor selection, conditioning regimens, and graft-versus-host disease (GVHD) prophylaxis are discussed. The patient received a non-myeloablative conditioning regimen and ABO blood group-matched unrelated human leukocyte antigen fully-matched donors. Immunosuppressants tacrolimus and mycophenolate mofetil were administered to prevent GVHD. Maintenance therapy with ponatinib effectively maintained remission. This case highlights the complexities of managing HSCT after solid organ transplantation and suggests strategies for future cases.