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

BACKGROUND: Nkx2.5 is a homeodomain-containing nuclear transcription protein that has been associated with acute T-lymphoblastic leukemia. In addition, Nkx2.5 has an essential role in cardiomyogenesis. However, the expression of Nkx2.5 in the skin has not been investigated. OBJECTIVE: In an attempt to screen the differentially regulated genes involved in keratinocyte differentiation, using a cDNA microarray, we identified Nkx2.5 as one of the transcription factors controlling the expression of proteins associated with keratinocyte differentiation. METHODS: To investigate the expression of Nkx2.5 during keratinocyte differentiation, we used a calcium-induced keratinocyte differentiation model. RESULTS: RT-PCR and Western blot analysis revealed that the expression of Nkx2.5, in cultured human epidermal keratinocytes, increased with calcium treatment in a time-dependent manner. In normal skin tissue, the expression of Nkx2.5 was detected in the nuclei of the keratinocytes in all layers of the epidermis except the basal layer by immunohistochemistry. In addition, the expression of Nkx2.5 was significantly increased in psoriasis and squamous cell carcinoma, but was barely detected in atopic dermatitis and basal cell carcinoma. CONCLUSION: These results suggest that Nkx2.5 may play a role in the change from proliferation to differentiation of keratinocytes and in the pathogenesis of skin disease with aberrant keratinocyte differentiation.
Blotting, Western ; Calcium ; Carcinoma, Squamous Cell ; Dermatitis, Atopic ; Epidermis ; Humans ; Immunohistochemistry ; Keratinocytes ; Leukemia ; Oligonucleotide Array Sequence Analysis ; Proteins ; Psoriasis ; Skin ; Skin Diseases ; Transcription Factors

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

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*

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

Kaempferol is the major flavonol in green tea and exhibits many biomedically useful properties such as antioxidative, cytoprotective and anti-apoptotic activities. To elucidate its effects on the skin, we investigated the transcriptional profiles of kaempferol-treated HaCaT cells using cDNA microarray analysis and identified 147 transcripts that exhibited significant changes in expression. Of these, 18 were up-regulated and 129 were down-regulated. These transcripts were then classified into 12 categories according to their functional roles: cell adhesion/cytoskeleton, cell cycle, redox homeostasis, immune/defense responses, metabolism, protein biosynthesis/modification, intracellular transport, RNA processing, DNA modification/ replication, regulation of transcription, signal transduction and transport. We then analyzed the promoter sequences of differentially-regulated genes and identified over-represented regulatory sites and candidate transcription factors (TFs) for gene regulation by kaempferol. These included c-REL, SAP-1, Ahr-ARNT, Nrf-2, Elk-1, SPI-B, NF-kappaB and p65. In addition, we validated the microarray results and promoter analyses using conventional methods such as real-time PCR and ELISA-based transcription factor assay. Our microarray analysis has provided useful information for determining the genetic regulatory network affected by kaempferol, and this approach will be useful for elucidating gene-phytochemical interactions.
Base Sequence ; Cell Line ; DNA Primers ; Enzyme-Linked Immunosorbent Assay ; *Gene Expression Profiling ; Gene Expression Regulation/*drug effects ; Humans ; Kaempferols/*pharmacology ; Keratinocytes/*drug effects/metabolism ; Oligonucleotide Array Sequence Analysis ; Promoter Regions, Genetic ; Reverse Transcriptase Polymerase Chain Reaction ; Transcription Factors/*physiology ; Transcription, Genetic/*drug effects