The original published article contains an inaccurate statement in Acknowledgements section.

The term malignant mesenchymoma has been applied to those tumors of the soft tissue of mesenchymal origin which are composed of tumor cells differentiating into two or more unrelated malignant forms in addition to the fibrosarcomatous element. Recently authors experienced a case of malignant mesenchymoma in the right axillary area. Microscopically the sarcoma revealed multiple pattern of differentiation, including liposarcoma, malignant schwannoma, fibrosarcoma, malignant fibrous histiocytoma and rhabdomyoblastoma. The presence of rhabdomyblastic cells were proved by immunochemical study utilizing desmin. This patient was treated with surgical excision and radiation.

The main purpose of newborn screening is to diagnose genetic, metabolic, and other inherited disorders, at their earliest to start treatment before the clinical manifestations become evident. Understanding and tracing the biochemical data obtained from tandem mass spectrometry is vital for early diagnosis of metabolic diseases associated with such disorders. Accordingly, it is important to focus on the entire diagnostic process, including differential and confirmatory diagnostic options, and the major factors that influence the results of biochemical analysis. Compared to regular biochemical testing, this is a complex process carried out by a medical physician specialist. It is comprised of an integrated program requiring multidisciplinary approach such as, pediatric specialist, expert scientist, clinical laboratory technician, and nutritionist. Tandem mass spectrometry is a powerful tool to improve screening of newborns for diverse metabolic diseases. It is likely to be used to analyze other treatable disorders or significantly improve existing newborn tests to allow broad scale and precise testing. This new era of various screening programs, new treatments, and the availability of detection technology will prove to be beneficial for the future generations.
Diagnosis, Differential ; Early Diagnosis ; Humans ; Infant, Newborn* ; Mass Screening* ; Medical Laboratory Personnel ; Metabolic Diseases ; Metabolomics* ; Nutritionists ; Social Responsibility ; Specialization ; Tandem Mass Spectrometry*

Inborn errors of fatty acid mitochondrial oxidation (FAOD) have drawn considerable attention in recent years because of rapid pace of discovery of new defects and an ever-increasing spectrum of clinical phenotypes. This review describes a clinical and biochemical phenotypes, diagnosis and treatment of FAOD. Some of FAOD can not be detected by conventional biochemical investigations, even when a patient is symptomatic with fasting intolerance or functional failure of fatty acid dependent tissue (s). Diagnosis must ultimately be based on direct assay of the involved enzyme, however, preliminary indicators may come from determination of carnitine and intermediate metabolites in plasma, profiling of urine organic acid, and radioisotopic screening assays with lymphocytes or cultured fibroblasts. We are faced with the following major challenges: whether to include FAOD in newborn screening programs, the investigation of the rules played by individual disorders in maternal complication during pregnancy, sudden and unexpected death in early life, and pediatric acute/fulminant liver failure.
Carnitine ; Diagnosis ; Fasting ; Fibroblasts ; Humans ; Infant, Newborn ; Liver Failure ; Lymphocytes ; Mass Screening ; Phenotype ; Plasma ; Pregnancy

PURPOSE: Adriarnycin induced cardiomyopathy is irreversible and may procede to clinical congestive heart failure. Recently, it has been suggested that adriamycin may exert cardiomyopathy due to inhibition of transport across mitochondrial membranes rnediated by the carnitine palmitoyltransferase system(CPT I). The effect of adriamycin on fatty acid metabolisrn according to cumulative dose was not clarified. The purpose of this study was to ascertain the acute effect of adriamycin on lipid and fatty acid metabolism accoring to cumulative dose. METHODS: Sprague-Dawley rats were divided into two groups. The first group was control. The second group was given intraperitoneal injection with adriamycin(5mg/kg) twice a week for 2 weeks. Serum lipid (total cholesterol, triglyceride, HDL cholesterol, LDL cholesterol) and fatty acid levels were analyzed on the first day, 8th day, and 11th day after injection of adriamycin. RESULTS: Total cholesterol, triglyceride, and LDL cholesterol were significantly higher in adriamycin group compared to the control group. HDL cholesterol was similar in both groups. Total cholesterol and LDL choleterol level significantly increased over the adriamycin dose. Total fatty acid levels were significantly higher after injection of adriamycin. Long chain fatty acids such as palmitic acid, linoleic acicl and oleic acid levels were significantly elevated in the adriamycin group. CONCLUSION: Serum lipid and fatty acid levels increased significantly after injection of adriamycin.
Animals ; Cardiomyopathies* ; Carnitine O-Palmitoyltransferase ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Doxorubicin* ; Fatty Acids ; Heart Failure ; Injections, Intraperitoneal ; Metabolism* ; Mitochondrial Membranes ; Oleic Acid ; Palmitic Acid ; Rats* ; Rats, Sprague-Dawley ; Triglycerides

A malignant rhabdoid tumor is an aggressive tumor that occurs mainly in the kidney of infants and children. When it occurs in extrarenal sites, it is referred to as an extrarenal malignant rhabdoid tumor. Although a few cases of malignant rhabdoid tumor occuring in the central nervous system, liver, brain, skin, and soft tissue have been reported, it is rarely observed in the stomach. We report the imaging findings of a malignant rhabdoid tumor of the stomach that mimicked a gastric lymphoma in a patient who presented with melena.

A malignant rhabdoid tumor is an aggressive tumor that occurs mainly in the kidney of infants and children. When it occurs in extrarenal sites, it is referred to as an extrarenal malignant rhabdoid tumor. Although a few cases of malignant rhabdoid tumor occuring in the central nervous system, liver, brain, skin, and soft tissue have been reported, it is rarely observed in the stomach. We report the imaging findings of a malignant rhabdoid tumor of the stomach that mimicked a gastric lymphoma in a patient who presented with melena.

We report a one-day-old Korean boy with 2-Methylbutyryl-CoA dehydrogenase(2-MBCDase) deficiency detected by urine organic acid and acylglycine analysis, plasma acylcarnitine analysis and confirmed by enzyme assay and Western blot. The patient was born at 35 weeks and three days with oligohydroamnios and premature rupture of membrane for 31 hours, as a second child of healthy non-consanguineous parents. There was no significant family history and spontaneous abortion. He was admitted at NICU under ventilator care due to prematurity, respiratory difficulty, and decreased generalized muscle tone. During the first week of hospitalization, he presented with disseminated intravascular coagulation and sepsis. A grade IV intraventricular hemorrhage on brain sonography was observed on the 7th day after birth with seizure. The clinical course of aggravation and recovery was repeated for one month. In laboratory tests, blood C5-acylcarnitines(isovaleryl/ methylbutyrylcarnitine) and urine 2-methylbutyrylglycine(2-MBG) were markedly elevated; butyrylglycine and isobutyrylglycine were also detected in small amounts in the urine. SBCAD(short branched-chain acyl-CoA dehydrogenase) enzyme activity was undetectable in cultured skin fibroblasts and Western blot showed no detectable immuno-reactive protein. Molecular analysis of the 2-MBCD gene revealed a polymorphism in the leader peptide region(38G>A; Arg13Lys) and homozygous for a non-coding polymorphism 639T>C. This is the first such case in Korea. This disorder is known to be relatively common in one other oriental ethnic group, the Hmong. The baby has been fed on a maple syrup urine disease(MSUD)-similar diet program, and is still alive and is 26-months-old now. However, he developed significant neurologic complications including communicating hydrocephalus, cerebral palsy, and blindness. Presumably the prematurity and its complications may also attribute to his severe neurologic problems. However, the clinical course was particularly severe, a finding in contrast with the observation from several asymptomatic Hmong cases. The clinical course of 2-MBCDase deficiency could be very variable and careful monitoring and follow up should be considered.
Abortion, Spontaneous ; Acer ; Blindness ; Blotting, Western ; Brain ; Cerebral Palsy ; Child ; Diet ; Disseminated Intravascular Coagulation ; Enzyme Assays ; Ethnic Groups ; Female ; Fibroblasts ; Follow-Up Studies ; Hematologic Tests ; Hemorrhage ; Hospitalization ; Humans ; Hydrocephalus ; Korea ; Male ; Membranes ; Oxidoreductases* ; Parents ; Parturition ; Plasma ; Pregnancy ; Protein Sorting Signals ; Rupture ; Seizures ; Sepsis ; Skin ; Ventilators, Mechanical

Purpose: We report a case of orbital apex syndrome caused by co-infection of Actinomyces and Aspergillus invasive fungal sinusitis.Case summary: An 87-year-old female visited our clinic for decreased visual acuity which began 2 weeks prior to her visit. She had a history of angina and uncontrolled diabetes. Her best-corrected visual acuity (BCVA) of the left eye was 0.2, the intraocular pressure was in the normal range, and mild ptosis with impaired abduction was noted. Gadolinium-enhanced brain magnetic resonance imaging showed left maxillary sinusitis and an enhanced lesion invading the pterygopalatine fossa. Functional endoscopic sinus surgery was performed by an otorhinolaryngologist. Pathology revealed co-infection with Aspergillus and Actinomyces. Her left BCVA was negative light perception despite surgery and impaired abduction progressed to total ophthalmoplegia. Conclusions We report a case of orbital apex syndrome caused by invasive fungal sinusitis with a rare co-infection of Actinomyces and Aspergillus.

Leiomyosarcoma is a malignant tumor that typically originates from either the uterus or the retroperitoneum. Furthermore, primary adrenal leiomyosarcoma is an extremely rare condition. Owing to its radiological non-specificity, differentiating leiomyosarcoma from other tumor types in the adrenal gland is difficult. We report the imaging findings of a primary adrenal leiomyosarcoma in a patient who presented with left upper quadrant abdominal pain, which increased by more than 1 cm in diameter in two years. Primary adrenal leiomyosarcoma was diagnosed considering the subsequent surgical and histopathologic findings.