Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder caused by mutations in the MEN1 gene on chromosome 1. Clinical diagnostic criteria for MEN1 include the presence of two or more endocrine tumors such as pituitary, parathyroid, and pancreatic islet tumors. Treatment is needed for tumors accompanied by symptoms or having malignant potential. Malignant neuroendocrine tumors (NETs) are the major cause of MEN1-related death, and pancreatic NETs account for 30-80% of MEN1 cases. Surgery is the mainstay curative treatment, and endoscopic intervention is a treatment option when patients are poor candidates for surgery. A 33-year old female patient with MEN1 was treated via endoscopic ultrasonography-guided ethanol injection for a pancreatic NET.
Chromosomes, Human, Pair 1 ; Endosonography ; Ethanol* ; Female ; Humans ; Islets of Langerhans ; Multiple Endocrine Neoplasia Type 1* ; Multiple Endocrine Neoplasia* ; Neuroendocrine Tumors* ; Pancreas

Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited disorder caused by mutations in the MEN1 gene on chromosome 1. Clinical diagnostic criteria for MEN1 include the presence of two or more endocrine tumors such as pituitary, parathyroid, and pancreatic islet tumors. Treatment is needed for tumors accompanied by symptoms or having malignant potential. Malignant neuroendocrine tumors (NETs) are the major cause of MEN1-related death, and pancreatic NETs account for 30-80% of MEN1 cases. Surgery is the mainstay curative treatment, and endoscopic intervention is a treatment option when patients are poor candidates for surgery. A 33-year old female patient with MEN1 was treated via endoscopic ultrasonography-guided ethanol injection for a pancreatic NET.
Chromosomes, Human, Pair 1 ; Endosonography ; Ethanol* ; Female ; Humans ; Islets of Langerhans ; Multiple Endocrine Neoplasia Type 1* ; Multiple Endocrine Neoplasia* ; Neuroendocrine Tumors* ; Pancreas

Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the destruction of insulin-producing beta-cells in the pancreas.Genetic variations within the major histocompatibility complex (MHC) significantly influence the development of T1D, with diseaseprogression often indicated by the presence of autoantibodies. Until recently, insulin therapy was the sole treatment for T1D. However, in 2022, the Food and Drug Administration approved teplizumab, an anti-CD3 monoclonal antibody, as a novel immunomodulatory therapy to delay the onset of T1D. Various immunologic agents, including anti-CD antibodies and anti-cytokine autoantibodies, have been investigated across various stages of T1D in clinical trials. This article examines the current status of drug development for theprevention and treatment of T1D and summarizes key studies that aimed at delaying the onset of T1D using these agents. While effortsto halt or prevent the disease prior to clinical diagnosis have yielded limited success, post-diagnosis interventions have shown promising potential in slowing disease progression by preserving beta-cell function. Further investigation into long-term clinical outcomes related to the delay of T1D onset is necessary, and ongoing studies require extended follow-up to assess their full potential.

Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the destruction of insulin-producing beta-cells in the pancreas.Genetic variations within the major histocompatibility complex (MHC) significantly influence the development of T1D, with diseaseprogression often indicated by the presence of autoantibodies. Until recently, insulin therapy was the sole treatment for T1D. However, in 2022, the Food and Drug Administration approved teplizumab, an anti-CD3 monoclonal antibody, as a novel immunomodulatory therapy to delay the onset of T1D. Various immunologic agents, including anti-CD antibodies and anti-cytokine autoantibodies, have been investigated across various stages of T1D in clinical trials. This article examines the current status of drug development for theprevention and treatment of T1D and summarizes key studies that aimed at delaying the onset of T1D using these agents. While effortsto halt or prevent the disease prior to clinical diagnosis have yielded limited success, post-diagnosis interventions have shown promising potential in slowing disease progression by preserving beta-cell function. Further investigation into long-term clinical outcomes related to the delay of T1D onset is necessary, and ongoing studies require extended follow-up to assess their full potential.

Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the destruction of insulin-producing beta-cells in the pancreas.Genetic variations within the major histocompatibility complex (MHC) significantly influence the development of T1D, with diseaseprogression often indicated by the presence of autoantibodies. Until recently, insulin therapy was the sole treatment for T1D. However, in 2022, the Food and Drug Administration approved teplizumab, an anti-CD3 monoclonal antibody, as a novel immunomodulatory therapy to delay the onset of T1D. Various immunologic agents, including anti-CD antibodies and anti-cytokine autoantibodies, have been investigated across various stages of T1D in clinical trials. This article examines the current status of drug development for theprevention and treatment of T1D and summarizes key studies that aimed at delaying the onset of T1D using these agents. While effortsto halt or prevent the disease prior to clinical diagnosis have yielded limited success, post-diagnosis interventions have shown promising potential in slowing disease progression by preserving beta-cell function. Further investigation into long-term clinical outcomes related to the delay of T1D onset is necessary, and ongoing studies require extended follow-up to assess their full potential.

Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the destruction of insulin-producing beta-cells in the pancreas.Genetic variations within the major histocompatibility complex (MHC) significantly influence the development of T1D, with diseaseprogression often indicated by the presence of autoantibodies. Until recently, insulin therapy was the sole treatment for T1D. However, in 2022, the Food and Drug Administration approved teplizumab, an anti-CD3 monoclonal antibody, as a novel immunomodulatory therapy to delay the onset of T1D. Various immunologic agents, including anti-CD antibodies and anti-cytokine autoantibodies, have been investigated across various stages of T1D in clinical trials. This article examines the current status of drug development for theprevention and treatment of T1D and summarizes key studies that aimed at delaying the onset of T1D using these agents. While effortsto halt or prevent the disease prior to clinical diagnosis have yielded limited success, post-diagnosis interventions have shown promising potential in slowing disease progression by preserving beta-cell function. Further investigation into long-term clinical outcomes related to the delay of T1D onset is necessary, and ongoing studies require extended follow-up to assess their full potential.

Primary biliary mucosa-associated lymphoid tissue (MALT) lymphoma is extremely rare. We report a case of primary biliary MALT lymphoma with obstructive jaundice diagnosed by endoscopic biopsy, without surgical intervention. Obstructive jaundice was relieved by endoscopic drainage and endoscopic biopsy was done simultaneously during endoscopic retrograde cholangiopancreatography. Unnecessary surgical intervention can be avoided after pathological confirmation of lymphoma. The patient received radiotherapy, and is alive without any evidence of recurrence or biliary obstruction. Diagnosis of primary biliary lymphoma is very difficult because of its low prevalence. However, it should always be considered as a differential diagnosis, since when an accurate diagnosis is made, unnecessary surgical intervention can be avoided.
Biopsy ; Cholangiocarcinoma ; Cholangiopancreatography, Endoscopic Retrograde ; Diagnosis ; Diagnosis, Differential ; Drainage ; Humans ; Jaundice, Obstructive ; Klatskin Tumor* ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone* ; Prevalence ; Radiotherapy ; Recurrence

Primaquine is often administered for the hypnozoite stage of Plasmodium vivax and Plasmodium ovale. Primaquine (with clindamycin) is also an alternative drug for treatment of pneumocystis pneumonia when trimethoprim/sulfamethoxazole cannot be used. Primaquine may cause methemoglobinemia, an altered state of hemoglobin in which the ferrous state of heme is oxidized to the ferric state. We report a case of methemoglobinemia caused by a standard dose of primaquine plus clindamycin in a 27-year-old female recipient of a kidney transplant who was diagnosed with pneumocystis pneumonia.
Adult ; Clindamycin ; Female ; Heme ; Humans ; Kidney ; Methemoglobin ; Methemoglobinemia* ; Plasmodium ovale ; Plasmodium vivax ; Pneumonia, Pneumocystis ; Primaquine*

17α-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia and is characterized by primary amenorrhea, delayed puberty and hypertension. Although 17α-hydroxylase deficiency mimics mineralocorticoid-induced hypertension, impaired sexual development can aid in the differential diagnosis of this disease. A 32-year-old woman, who had a history of testicular feminization syndrome, presented with hypertension. Her aldosterone level was elevated whereas plasma renin activity was reduced, and her computed tomography scan showed a left adrenal adenoma, which was thought to be an aldosterone producing adenoma. A left adrenalectomy was performed to treat hypertension; however, the condition did not improve. The hormonal tests revealed high levels of plasma progesterone, mineralocorticoid and adrenocorticotropic hormone, and low levels of 17a hydroxyprogesterone, cortisol and sex hormones. The patient was diagnosed with 17α-hydroxylase deficiency and commenced on prednisolone, which controlled hypertension. Here, we report a case of 17α-hydroxylase deficiency mimicking hyperaldosteronism via aldosterone-producing adrenal adenoma.
Adenoma* ; Adrenal Hyperplasia, Congenital ; Adrenalectomy ; Adrenocortical Adenoma ; Adrenocorticotropic Hormone ; Adult ; Aldosterone ; Amenorrhea ; Androgen-Insensitivity Syndrome ; Diagnosis, Differential ; Female ; Gonadal Steroid Hormones ; Humans ; Hydrocortisone ; Hyperaldosteronism* ; Hypertension ; Male ; Plasma ; Prednisolone ; Progesterone ; Puberty, Delayed ; Renin ; Sexual Development

Drug-induced immune hemolytic anemia (DIIHA) is a rare side effect of drugs. DIIHA may cause a systemic inflammatory response that results in acute multi-organ failure and death. Ceftizoxime belongs to the class of third generation cephalosporins, which are the most common drugs associated with DIIHA. Herein, we present a case of a 66-year-old man who developed fatal DIIHA after receiving a second dose of ceftizoxime. He was admitted to receive photodynamic therapy. He had a history of a single parenteral dose of ceftizoxime 3 months prior to admission. On the day of the procedure — shortly after the infusion of ceftizoxime — the patient's mental status was altered. The blood test results revealed hemolysis. Oliguric acute kidney injury developed, and continuous renal replacement therapy had to be applied. On the suspicion of DIIHA, the patient underwent plasmapheresis. Diagnosis was confirmed by a detection of drug-dependent antibody with immune complex formation. Although his hemolysis improved, his liver failure did not improve. He was eventually discharged to palliative care, and subsequently died.
Acute Kidney Injury ; Aged ; Anemia, Hemolytic* ; Antigen-Antibody Complex ; Ceftizoxime ; Cephalosporins ; Diagnosis ; Hematologic Tests ; Hemolysis ; Humans ; Liver Failure ; Palliative Care ; Photochemotherapy ; Plasmapheresis ; Renal Replacement Therapy