X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagnosis is based on typical histopathological findings on muscle biopsy, combined with suggestive clinical features. We experienced a case of a newborn who required intubation and ventilator care because of profound hypotonia and respiratory difficulty. The preliminary diagnosis at the time of request for retrieval was hypoxic ischemic encephalopathy, but the infant was clinically reevaluated for generalized weakness and muscle atrophy. Muscle biopsies showed variability in fiber size and centrally located nuclei in nearly all the fibers. We detected an MTM1 gene mutation of c.1261-1C>A in the intron 10 region, and diagnosed the neonate with myotubular myopathy. The same mutation was detected in his mother.
Biopsy ; Humans ; Hypoxia-Ischemia, Brain ; Infant ; Infant, Newborn ; Introns ; Intubation ; Male ; Mothers ; Muscle Hypotonia ; Muscle Weakness ; Muscles ; Muscular Atrophy ; Muscular Diseases ; Myopathies, Structural, Congenital ; Ventilators, Mechanical

BACKGROUND: Hypercalcemia is an important metabolic emergency condition in cancer patients. Bisphosphonate is the treatment of choice for hypercalcemia, whereas calcitonin and hydration with furosemide are recommended for acute supportive therapy. However, data regarding real-world treatment patterns and outcomes of pharmacological treatments are limited. Therefore, we aimed to investigate the treatment patterns and clinical outcomes of hypercalcemia treatment in solid tumor patients. METHODS: Electronic medical records of 123 adults with solid cancers and albumin-corrected calcium levels >10.5 mg/dL or ionized calcium levels >1.35 mmol/L were reviewed. We retrospectively analyzed the pharmacological treatment and recovery rate according to the severity of hypercalcemia. RESULTS: A total of 177 cases were identified, of which 49 were not treated and 30 were treated with hydration only. In moderate-to-severe cases, 86.5% received pharmacological treatment. Thirty-four cases (19.2%) were treated with bisphosphonate alone and 58 cases (32.8%) were treated with bisphosphonate and calcitonin. In mild hypercalcemia cases, the recovery rate was higher for those receiving hydration only or pharmacological treatment (79.7%) than for those receiving no treatment (61.4%, p = 0.041). Most moderate-to-severe cases were treated with medication and of those treated, 56.3% recovered. The recovery rate was lower in those treated with bisphosphonate alone (38.2%) than in those who underwent calcitonin combination treatment (73.7%, p = 0.001). CONCLUSIONS: Bisphosphonate combined with calcitonin was found to be more effective than bisphosphonate alone for the treatment of moderate-to-severe hypercalcemia. Considering the current shortage of calcitonin, further efforts are required to ensure its stable supply.
Adult ; Calcitonin ; Calcium ; Electronic Health Records ; Emergencies ; Furosemide ; Humans ; Hypercalcemia ; Retrospective Studies

Typhoid fever, the most serious human salmonellosis, is a systemic infectious disease caused by Salmonella enterica serovar Typhi and is characterized by prolonged fever, bacteremia, and multiplication of the organism within mononuclear phagocytic cells of the liver, spleen, lymph nodes, and Peyer's patches. The characteristic lesion of typhoid fever is an ulceration of the small intestinal lymphoid tissue, particularly the Peyer's patches. The usual histological findings of typhoid ulcer are necrosis and histiocytic proliferation that phagocytizes erythrocytes and degenerated lymphocytes. A granuloma is an unusual histopathological presentation of a typhoid lesion. Even if granulomas have been reported in the bone marrow, liver, and spleen in cases of typhoid fever, granulomas in primary ulcers of the ileum and transverse colon have been reported very rarely. We experienced a case of typhoid fever in which ill-defined granulomas were seen in ulcers of the terminal ileum and transverse colon.
Bacteremia ; Bone Marrow ; Colon, Transverse ; Communicable Diseases ; Erythrocytes ; Fever ; Granuloma ; Humans ; Ileum ; Liver ; Lymph Nodes ; Lymphocytes ; Lymphoid Tissue ; Necrosis ; Peyer's Patches ; Phagocytes ; Salmonella Infections ; Salmonella typhi ; Spleen ; Typhoid Fever ; Ulcer

We report a patient who developed posterior leukoencephalopatty (PLE) after a transfusion with vasospasm and both features of cytotoxic and vasogenic edema. The cytotoxic edema developed in the cerebral region hemodynamically more compromised. Different mechanisms may occur in PLE according to the degree of ischemic burden related to vasospasm.
Edema* ; Humans ; Leukoencephalopathies*

BACKGROUND AND OBJECTIVES: Mucoceles usually occur as asymptomatic, dome-shaped, translucent cysts in the lower lip and oral cavity containing mucin. Mucoceles are usually associated with the minor salivary glands and are classified histologically into the extravasation type and the retention type. The objective of the present study was to establish the prevalence of these lesions according to age, gender, histologic type, and site of occurrence. SUBJECTS AND METHOD: We retrospectively reviewed the medical records from January 2008 to February 2013 pertaining to age, sex, clinical history, and other findings of 52 patients who underwent operation and confirmed as mucocele histologically. We re-evaluated all mucocele cases by an experienced pathologist. RESULTS: Of the 52 cases analyzed, 32 (61.5%) were females and 20 (38.5%) were males. Age ranged from 2 to 77 years (mean age 20.6 years), with 78.8% occurring between the ages of 0 and 30 years with peak incidences in the twenties for female patients and in the thirties for male (34%). There was a more predominance among women (61.5%). The lower lip was the site most frequently affected by the lesions (59.6%), whereas the lowest prevalence was observed for the soft palate (2%), and buccal mucosa (2%). Tongue (15.4%) and floor of mouth (21.2%) were not uncommonly affected sites. Histologically mucous extravasation type (96.2%) was more predominant than the retention type (3.8%). CONCLUSION: In this study, mucocele was found predominant in younger age groups, with the lower lip being the most frequently affected site. Histologically, the mucus extravasation type was the most common.
Female ; Humans ; Incidence ; Lip ; Male ; Medical Records ; Mouth ; Mouth Floor ; Mouth Mucosa ; Mucins ; Mucocele ; Mucus ; Palate, Soft ; Prevalence ; Ranula ; Retention (Psychology) ; Retrospective Studies ; Salivary Glands, Minor ; Tongue

BACKGROUND AND OBJECTIVES: Epistaxis usually responds to conservative therapy such as nasal packing or electrocauterization. But sometimes more invasive techniques such as selective embolization is justified. We report our experience of 10 patients with selective endovascular embolization for refractory epistaxis. SUBJECTS AND METHOD: Ten patients were referred for selective arterial embolization for refractory epistaxis. Medical records were reviewed for clinical data, recurrence, and complication. RESULTS: Early rebleeding requiring treatment occurred in 1 patient (10%) and initial success rate of embolization was 90%. There was no major complication. Minor complications such as mild fever, groin pain, and voiding difficulty occurred in 2 patients (20%). CONCLUSION: Selective arterial embolization for refractory epistaxis is safe and effective for treatment of refractory intractable epistaxis.
Epistaxis* ; Fever ; Groin ; Humans ; Medical Records ; Nose ; Recurrence

We describe an ovarian mucinous neoplasm that histologically resembles lobular endocervical glandular hyperplasia (LEGH) containing pyloric gland type mucin in a patient with Peutz-Jeghers syndrome (PJS). Although ovarian mucinous tumors rarely occur in PJS patients, their pyloric gland phenotype has not been clearly determined. The histopathologic features of the ovarian mucinous tumor were reminiscent of LEGH. The cytoplasmic mucin was stained with periodic acid-Schiff reaction after diastase treatment but was negative for Alcian blue pH 2.5, suggesting the presence of neutral mucin. Immunohistochemically, the epithelium expressed various gastric markers, including MUC6, HIK1083, and carbonic anhydrase-IX. Multiple ligation-dependent probe amplification detected a germline heterozygous deletion mutation at exons 1–7 of the STK11 gene (c.1-?_920+?del) in peripheral blood leukocytes and mosaic loss of heterozygosity in ovarian tumor tissue. Considering that LEGH and/or gastric-type cervical adenocarcinoma can be found in patients with PJS carrying germline and/or somatic STK11 mutations, our case indicates that STK11 mutations have an important role in the proliferation of pyloric-phenotype mucinous epithelium at various anatomical locations.

PURPOSE: This study was undertaken to recognize the relapse rate and risk factors of relapse after discontinuation of antiepileptic drugs in patients with benign epilepsy of childhood with centro-temporal spikes(BECT). METHODS: The subjects were 57 patients with BECT, who visited our hospital from January 1990 to December 2004. They were followed up for more than 24 months after discontinuation of antiepileptic drugs. And they were analysed on the relapse rate and the factors that were presumed to influence the relapse. RESULTS: Seizures were relapsed in 7 of 57 patients(12.2%) after discontinuation of antiepileptic drugs. Relapses were more frequent in patients who took antiepileptic drugs for seizure control more than 12 months(15.0%) than those who didn't(10.8%). Moreover, more relapses occurred to those who were at higher age at onset and who took antiepileptic drugs less than 36 months(100%). Furthermore, those who had abnormalities in EEG experienced more relapses(33.3%) than others. The relapse rate was not significantly different in the aspect of and sex seizure frequency after discontinuation of medication between relapsed and non-relapsed patients. CONCLUSION: It is concluded that we should consider the risk factors of relapse in patients with BECT in order to avoid relapse when discontinuing antiepileptic drugs. Moreover, further studies are needed to clarify the risk factors of relapse.
Anticonvulsants* ; Electroencephalography ; Epilepsy* ; Humans ; Recurrence ; Risk Factors ; Seizures

The objective of this study was to evaluate the effect of a healthy school tuck shop program, developed as a way of creating a healthy and nutritional school environment, on students' access to healthy foods. Five middle schools and four high schools (775 students) participated in the healthy school tuck shop program, and nine schools (1,282 students) were selected as the control group. The intervention program included restriction of unhealthy foods sold in tuck shops, provision of various fruits, and indirect nutritional education with promotion of healthy food products. The program evaluation involved the examination of students' purchase and intake patterns of healthy foods, satisfaction with the available foodstuffs, and utilization of and satisfaction with nutritional educational resources. Our results indicated that among of the students who utilized the tuck shop, about 40% purchased fruit products, showing that availability of healthy foods in the tuck shop increased the accessibility of healthy foods for students. Overall food purchase and intake patterns did not significantly change during the intervention period. However, students from the intervention schools reported higher satisfaction with the healthy food products sold in the tuck shop than did those from the control schools (all P < 0.001), and they were highly satisfied with the educational resources provided to them. In conclusion, the healthy school tuck shop program had a positive effect on the accessibility of healthy food. The findings suggest that a healthy school tuck shop may be an effective environmental strategy for promoting students' access to healthy foods.
Fruit ; Humans ; Program Evaluation

Background: Basiliximab is used as an alternative to tacrolimus in patients with decreased renal function. However, studies on basiliximab as a maintenance immunosuppressant, particularly in patients with lung transplantation, are limited. Therefore, here, we investigated the efficacy and safety of basiliximab in patients with lung transplantation. Methods: Adult patients with acute kidney injury (AKI) who received lung transplantation at a single general hospital between July 1, 2014 and June 30, 2018, were selected and classified in tacrolimus and basiliximab groups. Both groups received a triple-drug regimen (tacrolimus, mycophenolate mofetil, and steroids). However, tacrolimus was discontinued in the basiliximab group when AKI occurred, and two or more repeat basiliximab doses were administered within 3 months after transplantation. The electronic medical records were analyzed retrospectively. Results: Of the 85 patients who met the selection criteria, 61 and 24 were assigned to the tacrolimus and basiliximab groups, respectively. Significant improvement in renal function was observed in the basiliximab group (p <0.001).However, there were no differences in acute and chronic rejection rates in both the groups. No difference was observed in the incidence rate of complications between the groups, except for chronic kidney disease, which showed higher incidence in the basiliximab group (25.0% vs. 4.9%; p =0.013). Conclusions We suggest the use of basiliximab as an immunosuppressant alternative to tacrolimus in patients with acute renal failure after lung transplantation. Basiliximab demonstrated effectiveness as an immunosuppressant and improved renal function. Therefore, basiliximab can be used in patients with decreased renal function.