Merkel cell carcinoma is a relatively uncommon, cutaneous, neuroendocrine neoplasm that was first recognized by Toker in 1972. Occasionally it is found concurrent with squamous cell carcinoma or basal cell carcinoma and in them cases, the coexistence of them is suggesive of presenting the effect of a common carcinogenic influence on two distinct precursor cells. Now the authors report a case of Merkel cell carcinoma associated with squamous cell carcinoma arising in the overlying epidermis, and a brief review of literatures is introduced. The patient was a 75-year-old female, who had noticed a reddish brown, ulcerated mass on the right buttock. It had progressively enlarged to become lemon-size during last 4 months. The right buttock mass excised measured 10x8x3 cm and was gray white, solid, with an ill-defined marigin. Histologically the tumor was located in the dermis and was lacking in connection with the epidermis in which invasive squamous cell carcinoma developed. The neoplastic cells were arranged in a diffuse, lymphoma-like pattern or trabecular arrangement and their cytologic details were reminiscent of small cell carcinoma of the lung, On electron microscopy the cells displayed many neurosecretory granules averaging about 100nm in diameter, intermediate filaments and desmosomes. Immunohistochemically a ball-like immunostaining for keratin, resembling an inclusion body, was seen, but other markers, including neuron-specific enolase, vimentin, S-100 protein and leukocyte common antigen, were unrewarded.
Female ; Humans

Metastases to the sinonasal tract are infrequent occurrences from primaries below the clavicles. The total number of reported cases to date is less than 100. There is, however, complete unanimity concerning the histologic type of metastatic neoplasm most often encountered. An interesting phenomenon, generally attributable only to breast and renal cell carcinoma, is the late recurrence of the malignant tumor, even 10 or more years after operation. A 61 year-old-male was admitted to ENT due to frequent epistaxis and right facial swelling. CT scan revealed a huge soft tissue density mass I right maxillary sinus with extension into nasopharynx and deviation of nasal septum. The histologic diagnosis was metastatic renal cell carcinoma. He had left nephrectomy because of renal cell carcinoma, 14 years ago. We report a case of metastatic renal cell carcinoma of maxillary sinus in view of rarity, and a brief review of the literature related to this type of tumor is presented.
Male ; Humans ; Neoplasm Metastasis

The kidney and balances of fluid and volume are the basic components of bloocl pressure control, and the kidney is the primary site that initiates the hypertensive process and is affected by hypertensive vascular disease. In the kidney, the dopamine is a potent natriuretic and vasodilating agent, participat- ing in renal sodium excretion and maintenance of cardiovascular homeostasis. And the dopamine receptors in central nervous system and peripheral organs were identified by physiological, biochernical and radioligand binding techniques. Rut previous morphological and biochemical studies have been unable to characterize or determine the tissue distribution of the dopamine receptor subtypes because no selective ligands are available yet. Furthermore, the cellular distribution of the dopamine receptor subtypes in the rat kidney is not demonstrated well. In the SHR, the ability of exogenous and endogenous renal dopamine to engender a natriuresis is impaired. Since renal dopamine levels in genetic models of hypertension are not lower than their normotensive controls, the impaired intrarenal paracrine effect of dopamine in these animal models of hypertension appears to be receptor or postreceptor mediated. And renal dopamine derives mainly from renal tubular dopamine production and to a lesser extent from dopaminergic nerves. The present study utilizes imrnunohistochemistry with specific antibodies to characterize the renal distribution of dopamine receptor subtypes and recognize the role of dopamine receptor defect in the pathogenesis of hypertension in 14-week-old WKY (mean HP 108+/-5mmHg) and SHR (mean RP 174+/-7 mmHg) kidneys. Also it utilizes antibody of tyrosine hyclroxylase (TH) to recognize the site of the dopamine production mediated by TH using light microscopic immunohistochemistry. In the immunohistochemistry of the WKY kidney, dopamine D1 receptor protein is localized to glomerulus, proximal tubule, distal tubule, renal vessels, cortical and medullary collecting duct. And in the SHR kidney, dopamine D1 receptor protein is localized to glomerulus, distal tubule, renal vessels, cortical and medullary collecting duct, and juxtaglomerular apparatus (JGA). But there is no demonstrable positive reaction in the proximal tubule and weakly positive reactions in the renal arterioles of SHR compared with WKY kidney. In the immunohisto-chemistry of the WKY kidney, dopamine D1 receptor protein is localized to glomerulus, proxirnal tubule, distal tubule, renal vessels, cortical and rnedullary collecting duct. And in the SHR kidney, dopamine D2 receptor protein is localized to glomerulus, distal tubule, renal vessels, cortical and medullary collecting duct, and JGA. So, there is no demonstrable positive reaction in the proximal tubule of SHR compared with WKY. In the glomerulus of the WKY and SHR kidneys, both dopamine D1 and D2 receptors are localized. In the in situ hybridization of the WKY and SHR kidneys, dopamine D and D receptors are only demonstrated at the renal vessels. The positive reaction to TH immunohistochemistry of the WKY and SHR kidneys is only observed in the renal medulla compared with negative reaction on the renal cortex. Considering the excretion of sodium up to 65-70% with volume expansion may be mediated by dopamine D1-like receptors in the proximal tubule, our immunohistochemistry findings for the dopamine receptors may support the failure of natriuretic response in the SHR due to an abnormal dopamine receptor. Also our results rnay mean that the glornerular filtration rate is mediated by both dopamine D1 and Dz receptors comparing with the previous studies that the glomerular filtration rate was mediated by dopamine D2 receptor. I'here are some differences in the receptors expressing sites on the previous radioligand binding and pharmacologic studies, but our results suggest that at least some of the renal dopamine DA and DAz receptors correspond structurally to the central dopamine D1 and D2 receptors. Finally the result of TH immunohisto-chemistry suggests that the production of dopamine in the proximal tubule is not mediated by TH.
Animals ; Antibodies ; Arterioles ; Central Nervous System ; Dopamine* ; Filtration ; Glomerular Filtration Rate ; Homeostasis ; Hypertension ; Immunohistochemistry* ; In Situ Hybridization ; Juxtaglomerular Apparatus ; Kidney* ; Ligands ; Models, Animal ; Models, Genetic ; Natriuresis ; Rats* ; Rats, Inbred SHR* ; Receptors, Dopamine ; Receptors, Dopamine D1 ; Receptors, Dopamine D2 ; Sodium ; Tissue Distribution ; Tyrosine ; Vascular Diseases

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is related to a mutation in breast cancer 1-associated ataxia telangiectasia mutated activation-1 protein (BRAT1). We report a case of a female infant born to non-consanguineous Korean parents who developed hypertonia, dysmorphic features, progressive encephalopathy with refractory seizures at birth, and worsening intermittent apnea, leading to intubation and death at 137 days of age. The initial repeated electroencephalographic findings were normal; however, a pattern of focal seizures emerged at 35 days of life. Rapid trio whole-exome sequencing revealed heterozygous mutations c.1313_1314delAG p.(Gln438Argfs*51) and c.1276C>T p. (Gln426*) in BRAT1. After genetic counseling for pregnancy planning, a preimplantation genetic diagnosis for targeted BRAT1 mutations was successfully performed, and a healthy baby was born. To our knowledge, this is the first reported case of a Korean patient with compound heterozygous mutations in BRAT1. An early and accurate genetic diagnosis can help provide timely treatment to patients and indicate the need for reproductive counseling for parents for family planning.

Purpose: Depression and frailty are common health problems that occur separately or simultaneously in later life. The two syndromes are correlated, but they need to be distinguished to promote successful aging. Previous studies have examined the reciprocal relationship between depression and frailty, but there are limitations in the methods or statistical analysis. This study aims to confirm the potential prospective bidirectional and causal relationship between depression and frailty. Methods: We used data from 887 older adults aged 70 to 84 from the Korean Frailty and Aging Cohort Study (KFACS) in 2016, 2018, and 2020 (3 waves). We separated the within-individual process from the stable between-individual differences using the random intercepts cross-lagged panel model. Results: Significant bidirectional causal effects were observed in 2 paths. Older adults with higher depression than their within-person average at T1 had a higher risk of frailty at T2 (β=.22, p=.008). Subsequently, older adults with higher-than-average frailty scores at T2 showed higher depression at T3 (β=.14, p=.010). Autoregressive effects were only significant from T2 to T3 for both constructs (Depression: β=.16, p=.044; Frailty: β=.13, p=.028). At the between-person level, the correlation was significant between the random intercepts between depression and frailty (β=.47, p<.001). Conclusions We find that depressed older adults have an increased risk of frailty, which contributes to the onset of depression and the maintenance of frailty. Therefore, interventions for each condition may prevent the entry and worsening of the other condition, as well as prevent comorbidity.

Epiphrenic diverticulum(traction type) is such a rare disease. The case of this disease which is due to mediastinal tumor, not because of inflammatory adhesion or of motor disorder is especially hard to find. The patient was a 50-year-old male and admitted with the intermittent postprandial chest discomfort. The chest CT and esophagography showed epiphrenic diverticulum(traction type). The tumor was located at the left anterolateral of thoracic spine, adhered to the right wall of esophagus. We performed the diverticulectomy and extirpation of mediastinal tumor under left posterolateral thoracotomy. The tumor and the esophagus were well seperated without invasion to the esophagus. In the pathology of resected tissues, solitary neurofibroma was diagnosed. There was no complication or recurrence after surgical resection.
Age Factors ; Diverticulum* ; Epidemiology ; Esophagus ; Hepacivirus ; Hepatitis B virus ; Humans ; Male ; Middle Aged ; Neurofibroma ; Pathology ; Rare Diseases ; Recurrence ; Spine ; Thoracotomy ; Thorax ; Tomography, X-Ray Computed

Colitis cystica profunda is a rare benign condition characterized by the presence of mucus-filled cysts in the submucosa of the colon and the rectum. Although it may diffusely involve the entire colon, this disease primarily affects the pelvic colon and rectum. It has rarely been described in the pediatric literature. The surgical treatment has been widely advocated. We report a 7-month-old case, successfully treated by colonoscopic polypectomy without complication. Histologically, components of juvenile retention polyp were mixed with colitis cytsica profunda.
Colitis* ; Colon ; Humans ; Infant* ; Polyps* ; Rectum

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disorder characterized by clonal proliferation of mature neutrophils, hepatosplenomegaly, elevated leukocyte alkaline phosphatase score (ALP score) and a negative Philadelphia chromosome. To date, approximately 150 cases have been reported in the literature, including some cases presenting with a 'leukemic' state reflected by a neutrophilic reaction. The term 'true' CNL, recently introduced by Reilly, highlights the need for more experience with CNL cases to improve the diagnostic criteria. In Korea, about 10 cases have been reported in the literature and some of those cases did not meet the WHO diagnostic criteria for CNL. We present a typical case of CNL in a 66-year-old man who complained of general weakness and weight loss. On admission, the white blood cell count from the peripheral blood was 175,600/L with 80% segmented neutrophils. The cytogenic study was negative for the Philadelphia chromosome and had a normal karyotype.
Aged ; Alkaline Phosphatase ; Humans ; Karyotype ; Korea ; Leukemia, Neutrophilic, Chronic* ; Leukocyte Count ; Leukocytes ; Myeloproliferative Disorders ; Neutrophils ; Philadelphia Chromosome ; Weight Loss

Cubital tunnel syndrome is compressive neuropathy, entrapment of the ulnar nerve around the medial epicondyle of the elbow joint, and the second most common neuropathy after carpal tunnel syndrome. Patients complain of hypoesthesia or paresthesia in the ulnar half of the ring and small fingers early in the disease. Advanced disease is complicated by irreversible muscle weakness or atrophy and claw hand deformity of the ring and small fingers. Although traditional decompression and anterior transposition of the ulnar nerve is known as standard treatment, according to recent reports only simple decompression has a good outcome. So, variety of surgical treatment options are available. In this paper, we purpose to describe the causes, clinical features and recent surgical treatments of cubital tunnel syndrome.
Animals ; Atrophy ; Carpal Tunnel Syndrome ; Cubital Tunnel Syndrome* ; Decompression ; Elbow Joint ; Fingers ; Hand Deformities ; Hoof and Claw ; Humans ; Hypesthesia ; Muscle Weakness ; Nerve Compression Syndromes ; Paresthesia ; Ulnar Nerve

BACKGROUND: This nationwide survey was undertaken to characterize the general pathological features of colorectal cancer in Korea, and especially to elucidate the geographical characteristics by means of their anatomical distribution. METHODS: We analysed 1,676 colorectal cancers (from 1,602 patients) surgically resected in 1998 at 15 institutions from nine geographical sites in Korea. RESULTS: The topographic incidence of colorectal cancer in seven out of the total nine geographical sites, was the highest in the rectum (32-54%); and those from Wonju and Cheongju were in the sigmoid colon (28% for both). The right colon cancer incidence was 42% in Wonju and 36% in Cheongju, while it was 17-22% in the other areas. The cecal cancer incidences in Wonju and in Taegu were 7% and 8%, respectively, but 0-4% in the other areas. As for histology, moderately differentiated adenocarcinoma was the most frequent (46-84%), except for in Wonju and Chonju, where the most predominant type was well differentiated (63% and 52%, respectively). CONCLUSION: The incidence of right colon cancer was higher in Wonju and Cheongju, than in the other geographical sites. The cecal predilection was prominent in Taegu and Wonju. The Elucidation of geographical differences in degree of differentiation for tubular adenocarcinoma seems to require further cumulative study with strict guidelines.
Adenocarcinoma ; Cecal Neoplasms ; Chungcheongbuk-do ; Colon, Sigmoid ; Colonic Neoplasms ; Colorectal Neoplasms* ; Daegu ; Gangwon-do ; Humans ; Incidence ; Jeollabuk-do ; Korea ; Pathology ; Rectum