＜論文紹介：NEJM 2023;389:2277-2285.ほか＞

NEJMがとても役立ちますよ、ということを以前お話ししましたが、最近のNEJM論文を紹介します。

「Case 38-2023: A 68-Year-Old Woman with Abnormal Movements and Confusion. （NEJM 2023;389:2277-2285.）」
不随意運動を来す病態の復習ができます。

「CLINICAL PROBLEM-SOLVING: Collecting Puzzle Pieces.（NEJM 2023;389:2189-2195.）」
画像診断ではある疾患に似ています。

「Case 36-2023: A 19-Year-Old Man with Diabetes and Kidney Cysts.（NEJM 2023;389:1993-2003.）」
腎のう胞関連の深い知識が得られます。

「BRIEF REPORT: Liver Transplantation in a Woman with Mahvash Disease.（NEJM 2023;389:1972-1978.）」
Mahvash disease is an exceedingly rare genetic disorder of glucagon signaling characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic α-cell hyperplasia.

 

他のNEJM関連は、こちら。
（かなり数がたまったので今後はリンクははりません。ご了承ください。
内容を記載しますので、ご関心があればリンク先アドレスをコピペしてご参照ください。）

（https://ocu-radiology.jp/news/news-4552/）
Granulomatous lung disease as an extraintestinal manifestation of inflammatory bowel disease.
Primary pericardial mesothelioma without pleural involvement.
Carcinoid heart disease due to a metastatic well-differentiated neuroendocrine tumor (carcinoid tumor) associated with carcinoid syndrome.

（https://ocu-radiology.jp/news/news-4460/）
Noncirrhotic hyperammonemia after Roux-en-Y gastric bypass.
Periengraftment respiratory distress syndrome, a subtype of idiopathic pneumonia syndrome.
Current and Emerging Issues in Wilson’s Disease.

（https://ocu-radiology.jp/news/news-4383/）
Protein-Losing Enteropathy.
Juvenile granulosa-cell tumor.
Multiple vitamin deficiencies, including vitamin C deficiency.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Histoplasmosis.
RAS-associated autoimmune leukoproliferative disorder.
Congenital absence of the main portal vein with a congenital extrahepatic portosystemic shunt (Abernethy malformation).

（https://ocu-radiology.jp/news/news-4306/）
Systemic immunoglobulin light-chain (AL) amyloidosis.
Sarcoidosis associated with tattoos.
Mansonella perstans infection.

（https://ocu-radiology.jp/news/news-4250/）
Cystic fibrosis
Functional vitamin B12 deficiency from use of nitrous oxide.
The Current and Future State of AI Interpretation of Medical Images.

（https://ocu-radiology.jp/news/news-4177/）
Arterial calcification due to deficiency of CD73.
Systemic lupus erythematosus with membranous lupus nephritis.
A hepatic brucelloma.

（https://ocu-radiology.jp/news/news-4096/）
Paraneoplastic vasculitis of the central nervous system.
Primary biliary cholangitis with portopulmonary hypertension.
Catastrophic antiphospholipid syndrome.

（https://ocu-radiology.jp/news/news-4062/）
Hepatic adenoma, inflammatory type, with associated ischemic necrosis and extensive hemorrhage.
Cardiac paraganglioma with a germline mutation in the gene encoding succinate dehydrogenase subunit C (SDHC).
Primary Ovarian Insufficiency.
Cushing’s syndrome due to ectopic secretion of adrenocorticotropic hormone from small-cell lung cancer.

（https://ocu-radiology.jp/news/news-4035/）
Adrenocortical carcinoma.
Disseminated Mycobacterium tuberculosis infection.
Whipple’s disease.
Optic nerve sheath meningioma.
Sarcoidosis.

（https://ocu-radiology.jp/news/news-3897/）
IgA vasculitis.
Granulomatosis with polyangiitis.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
Neonatal hypoglycemia due to biologically active teratoma and the Sotos syndrome.

（https://ocu-radiology.jp/news/news-3897/）
Langerhans-cell histiocytosis of the lung and liver.
Chronic Candida albicans meningitis.
Bronchiectasis — A Clinical Review.
Exogenous lipoid pneumonia with a supportive history of mineral oil ingestion.

（https://ocu-radiology.jp/news/news-3861/）
Takayasu’s arteritis.
Granulomatosis with polyangiitis.
Infection with Blastomyces dermatitidis.

（https://ocu-radiology.jp/news/news-3787/）
Spinal gout.
Aspiration pneumonia.
Idiopathic multicentric Castleman’ s disease (TAFRO subtype).

（https://ocu-radiology.jp/news/news-3734/)
Constrictive bronchiolitis due to military service. Cryptogenic
Organizing Pneumonia. Hereditary angioedema type I due to heterozygous
deletion of exons 5 and 6 in SERPING1

（https://ocu-radiology.jp/news/news-3654/）
Multistate Outbreak of Melioidosis Associated with Imported Aromatherapy
Spray. Fever of Unknown Origin. post–Covid-19 Hemophagocytic
lymphohistiocytosis (HLH).

（https://ocu-radiology.jp/news/news-3608/）
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
syndrome. Anti-IgLON5 IgG–associated neurologic disorder. HHV-6
encephalitis associated with CD19-directed CAR-T therapy.

（https://ocu-radiology.jp/news/news-3589/）
Fat embolism syndrome. Anti–melanoma differentiation–associated protein
5 (anti–MDA-5) dermatomyositis. Legionella pneumonia. Spontaneous
Intracranial Hypotension.

（https://ocu-radiology.jp/news/news-3561/）
Pneumocystis jirovecii pneumonia. Seizure from neurocysticercosis.
Primary hyperparathyroidism and brown tumor. Vascular Ehlers–Danlos
syndrome.

（https://ocu-radiology.jp/news/news-3513/）
Systemic juvenile idiopathic arthritis. Challenges of Sarcoidosis and
Its Management. Chronic Meningitis. Acute human immunodeficiency virus
type 1 infection.

（https://ocu-radiology.jp/news/news-3490/）
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
(CANVAS) due to a biallelic expansion in RFC1. Delayed posthypoxic
leukoencephalopathy. Vasculopathy and myocardial infarction associated
with Neurofibromatosis type 1. Nodular follicular thyroid neoplasm with
a somatic NRAS mutation.

（https://ocu-radiology.jp/news/news-3354/）
Adrenal Incidentaloma. Bartonella henselae infection (cat scratch
disease). Suprasellar CNS germinoma. Extrahepatic Manifestations of
Chronic HCV Infection. Leptospirosis.

（https://ocu-radiology.jp/news/news-3212/）
Lymphoplasmacytic lymphoma of the central nervous system (Bing–Neel
syndrome). Disseminated Mycobacterium bovis infection. Diffuse
idiopathic pulmonary neuroendocrine cell hyperplasia. Systemic primary
amyloidosis.

（https://ocu-radiology.jp/news/news-3133/）
Mycobacterium tuberculosis meningitis. Vaginal Transmission of Cancer
from Mothers with Cervical Cancer to Infants. Somatic Mutations in UBA1
and Severe Adult-Onset Autoinflammatory Disease. Cryptococcal
meningoencephalitis and advanced human immunodeficiency virus infection.

（https://ocu-radiology.jp/news/news-3082/）
Primary hyperparathyroidism due to an ectopic parathyroid carcinoma.
Necrotizing granulomatous lymphadenitis due to Mycobacterium
tuberculosis complex. Tuberculous pericarditis. Aceruloplasminemia,
hereditary. Sensory Ganglionopathy. Borrelia miyamotoi infection.
Autophagy in Human Diseas

（https://ocu-radiology.jp/news/news-3050/）
Disseminated cryptococcosis. Cryptococcus neoformans. Congenital Adrenal
Hyperplasia Due to 21-Hydroxylase Deficiency. boric acid toxicity. Human
immunodeficiency virus type 2 infection and cerebral toxoplasmosis.
New-Onset Diabetes in Covid-19.

（https://ocu-radiology.jp/news/news-3023/）
Pneumonia due to severe acute respiratory syndrome coronavirus 2
(SARS-CoV-2) infection. Lead poisoning. Acute Ischemic Stroke.
Degenerative Cervical Spondylosis.

（https://ocu-radiology.jp/news/news-2980/）
Whipple’s disease. Variant Creutzfeldt–Jakob Disease. Down Syndrome.
Phosphaturic mesenchymal tumor. LGI1 autoimmune encephalitis.

（https://ocu-radiology.jp/news/news-2903/）
Fascioliasis (Eosinophilia). Proteinase 3 antineutrophil cytoplasmic
antibody–associated vasculitis consistent with granulomatosis with
polyangiitis. Hantavirus cardiopulmonary syndrome. PSA Screening.

（https://ocu-radiology.jp/news/news-2788/）
Intraparenchymal and intracranial hemorrhage presumably due to birth
trauma. 小児虐待. Pulmonary tumor thrombotic microangiopathy

（https://ocu-radiology.jp/news/news-2758/）
A Novel Coronavirus from Patients with Pneumonia in China, 2019.
Treatment for Spontaneous Pneumothorax. Fatal Cytomegalovirus Infection
with Inherited NOS2 Deficiency. Strongyloidiasis with human
T-lymphotropic virus type 1 infection. Disseminated coccidioidomycosis
and ANCA-associated glomerulonephritis. Photopheresis for Colitis
Induced by Checkpoint-Inhibitor Therapy. Machine Learning and the
Cancer-Diagnosis Problem. Diffuse pulmonary alveolar hemorrhage with
focal infarction with vaping.

（https://ocu-radiology.jp/news/news-2601/）
Identification of Anonymous MRI Research Participants with
Face-Recognition Software. Cerebellar form of Creutzfeldt–Jakob disease.
Adenovirus meningoencephalitis. Imaging of Vaping-Associated Lung Disease.

（https://ocu-radiology.jp/news/news-2550/）
Interstitial lung disease associated with FLNA mutation.
Spondyloarthritis in patients with inflammatory bowel disease (Crohn’s
disease). Inhaled GM-CSF for Pulmonary Alveolar Proteinosis.

（https://ocu-radiology.jp/news/news-2464/）
Pregnant woman with Acute suppurative appendicitis and periappendicitis.
Pheochromocytoma and Paraganglioma. Drug-Induced Liver Injury. New
Guidelines for Statistical Reporting in the Journal.

（https://ocu-radiology.jp/news/news-2436/）
Leber’s hereditary optic neuropathy. Kelch-like Protein 11 Antibodies in
Seminoma-Associated Paraneoplastic Encephalitis. Intestinal tuberculosis.

（https://ocu-radiology.jp/news/news-2403/）
Anaplastic carcinoma arising in association with intestinal-type
mucinous carcinoma of the ovary. （いわゆるMucinous cystic tumours with mural
nodules） West Nile virus encephalitis/West Nile virus meningoencephalitis.

（https://ocu-radiology.jp/news/news-2371）
Systemic lupus erythematosus. Contrast-Associated Acute Kidney Injury.
Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. Metastatic
postpubertal immature teratoma. Machine Learning in Medicine.

（https://ocu-radiology.jp/news/news-2148/）
Idiopathic pulmonary fibrosis. Pulmonary alveolar proteinosis. Mucinous
Ovarian Carcinoma. Ocular syphilis.

（https://ocu-radiology.jp/news/news-2115/）
Herpes simplex virus lymphadenitis, Chronic lymphocytic leukemia.
Perforation of the sigmoid colon by a foreign body (toothpick) that
caused a fistula to the right common iliac artery. Powassan virus
encephalitis.

（https://ocu-radiology.jp/news/news-2037/）
Papulonecrotic tuberculid (cutaneous tuberculosis). Hepatobiliary
Tuberculosis. Sudden death caused by pulmonary fat embolism in a patient
with miliary tuberculosis.

（https://ocu-radiology.jp/news/news-1974/）
眼窩領域Granulomatosis with polyangiitis, Susac’s syndrome. Clostridium
perfringens bacteremia with a hepatic abscess. Osteoblastic and
Osteolytic Spine Metastases by Using SWI.

（https://ocu-radiology.jp/news/news-1921/）
The t(6;11) TFEB translocation variant of renal-cell carcinoma.
比較的新しい病理組織概念でUncommonな腎腫瘤の復習.

（https://ocu-radiology.jp/news/news-1901/）
Pulmonary adenocarcinoma, hypercoagulable state with nonbacterial
thrombotic endocarditis. BK Virus–Progressive Multifocal
Leukoencephalopathy.

（https://ocu-radiology.jp/news/news-1843/）
Anti–N-methyl-d-aspartate (NMDA) receptor encephalitis. The drug
reaction with eosinophilia and systemic symptoms (DRESS) syndrome,
associated with human herpesvirus 6. Acute Viral Encephalitis.
特にarbovirus encephalitisについて.

（https://ocu-radiology.jp/news/news-1793/）
Vitamin C deficiency (scurvy).“bachelor scurvy” Vitamin B6, folate,
zinc, and selenium deficiencies. Alcohol-use disorder. Multiple vitamin
deficiencies.

（https://ocu-radiology.jp/news/news-1681/）
Polyarteritis nodosa. HBVとの関連.

（https://ocu-radiology.jp/news/news-1605/）
Membranous nephropathy, PLA2R type. IgG4との関連性など. Idiopathic Pulmonary
Fibrosis.

（https://ocu-radiology.jp/news/news-1588/）
Giant-cell myocarditis. Takotsubo cardiomyopathy and
catecholamine-induced crisis due to pheochromocytoma. Fulminant
Myocarditis with Combination Immune Checkpoint Blockade.

（https://ocu-radiology.jp/news/news-1462/）
Homocystinuriaの様々な表現型：Cystathionine β-synthase deficiency,
Methylenetetrahydrofolate reductase deficiency. Primary Sjögren’s
Syndrome. Antibody-Mediated Encephalitis.

（https://ocu-radiology.jp/news/news-1374/）
Immune-Related Adverse Events Associated with Immune Checkpoint
Blockade. Multiple Sclerosis. Neuromyelitis Optica Spectrum Disorders.
Adenovirus infection, disseminated.

（https://ocu-radiology.jp/news/news-1253/）
Biotin–thiamine–responsive basal ganglia disease.

（https://ocu-radiology.jp/news/news-1109/）
好酸球増多症（Eosinophilia）について.

（https://ocu-radiology.jp/news/news-897/）
Copper deficiency. Zincとの関連.

（https://ocu-radiology.jp/news/news-891/）
Takayasu’s arteritis. Atypical immunoblastic reaction that was
consistent with primary Epstein–Barr virus infection.

（https://ocu-radiology.jp/news/news-783/）
NEJMの紹介、Case Recordsの変遷についての私見