Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

Sarcoidosis is multisystem granulomatous disorder of unknown etiology presenting most freguently with bilateral hilar lymphadenopathy, pulmonary infiitration, and skin or eye lesion. Nervous system is involoved clinically in approximately 5% of cases. Cranial neuropathy is the most frequent problem, and a peripheral facial nerve palsy is the single most common abnormlality which is often bilateral. About 12 cases of sarcoidosis have been reported in Korea but there was no case of neurosarcoidosis. We report a case of neurosarcoidosis manifested by facial diplegia and with bilateral hilar enlargement verified by transbronchial lung biopsy. And her heart is suspected to be involved with sarcoidosis, too.
Biopsy ; Cranial Nerve Diseases ; Facial Nerve ; Heart ; Korea ; Lung ; Lymphatic Diseases ; Nervous System ; Paralysis ; Sarcoidosis ; Skin

A 25 year old female patient with hyperemesis gravidarum developed mental confusion, gait disturbance and diplopia. MRI of this patient showed high-signal lesions in thalamus, floor of the fourth ventricle, periaqueductal gray matter, mammillary body, and corpora quadrigemina, The high signal areas correlated well with the anatomical distribution of pathologic lesions in wernicke's encephalopathy previously described.
Adult ; Diplopia ; Female ; Fourth Ventricle ; Gait ; Humans ; Hyperemesis Gravidarum* ; Magnetic Resonance Imaging* ; Mamillary Bodies ; Periaqueductal Gray ; Pregnancy ; Tectum Mesencephali ; Thalamus ; Wernicke Encephalopathy*

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

Malignant Rhabdoid tumor is a rare malignant neoplasm and is morphologically similar to rhabdomyosarcoma, but is different immunohistochemically. Most malignant rhabdoid tumors occur in the kidney of infants, and are rarely reported at extrarenal sites. Since Frierson and his collagues first described the malignant extrarenal rhabdoid tumor(MRT) in children in 1985, it has rarely been reported. The neoplasm is histologically and immunohistochemically identical to a renal malignant rhabdoid tumor. There have been no previous reports of this neoplasm in Korea. An MRT of the sacroiliac bone in a 11-year-old girl is described. Five months after the initial presentation, the patient is still alive with partial response to combination chemotherapy and radiotherapy. The authors review previous reports of extrarenal MRT, and discuss the pathologic characteristics, differential diagnosis, and treatment of this rare neoplasm.
Child ; Diagnosis, Differential ; Drug Therapy, Combination ; Female ; Humans ; Infant ; Kidney ; Korea ; Radiotherapy ; Rhabdoid Tumor* ; Rhabdomyosarcoma

BACKGROUND: Although adding rituximab to the chemotherapy regimen of cyclophosphamide, vincristine, doxorubicin, and prednisone (R-CHOP) has improved clinical outcomes of patients with diffuse large B-cell lymphoma (DLBCL), several recent studies have shown that the effect of rituximab is dominantly in the non-germinal center (non-GC) subtype compared to the germinal center (GC) subtype. Natural killer (NK) cell count, a surrogate marker of immune status, is associated with clinical outcomes in DLBCL patients in the rituximab era. We investigated whether the impact of NK cells on clinical outcomes differed according to the immunophenotype of DLBCL. METHODS: This study analyzed 72 DLBCL patients treated with R-CHOP between January 2010 and January 2014. RESULTS: Low NK cell counts (<100/microL) were associated with poor progression-free survival (PFS) and overall survival (OS) compared to high NK cell counts. In multivariate analysis, low NK cell count was an independent prognostic factor for PFS and OS. However, survival did not significantly differ between the GC and non-GC subtypes. We examined the clinical influence of NK cells according to the immunophenotype and found that low NK cell counts were significantly associated with poor PFS and OS in non-GC cases, but not in GC cases. CONCLUSION: Low NK cell counts at diagnosis are associated with poor clinical outcomes in DLBCL patients treated with R-CHOP therapy. However, the impact is significant only in non-GC subtype DLBCL, not in the GC subtype.
Biomarkers ; Cell Count ; Cyclophosphamide ; Diagnosis ; Disease-Free Survival ; Doxorubicin ; Drug Therapy ; Germinal Center ; Humans ; Killer Cells, Natural* ; Lymphoma, B-Cell* ; Multivariate Analysis ; Prednisone ; Vincristine ; Rituximab

BACKGROUND: The first probable case of human brucellosis in Korea was reported in 2002. Since then there has been a gradual increase in the incidence and prevalence of the disease. There has not been any long-term follow-up investigation of the clinical course and serologic profiles of the disease in Korea. The present investigation is a 3 year clinical and serologic follow-up of human brucellosis patients in Chonbuk province. MATERIALS AND METHODS: The investigation involved a total of 11 patients who were positively diagnosed with brucellosis in 2003. Clinical manifestations were evaluated either directly or via telephone interviews. The serologic follow-up was done by standard tube agglutination test (SAT). Negative sero- conversion was defined as an SAT titer less than 1:40. Early convalescence was defined as clinical manifestations of brucellosis observed within 12 months of diagnosis, and delayed convalescence was defined as clinical symptoms persisting longer than 12 months. RESULTS: A total of eleven patients (8 males and 3 females; with a mean age of 45 years) participated in the study. Ten patients were livestock workers and one was a practicing veterinarian. Three years after the initial diagnosis, chronic fatigue and arthralgia were persistently observed in more than 60% of the patients in delayed convalescence. There was no evidence of relapse or reinfection of the disease. The median duration of antibiotics treatment and serologic follow-up were 11 weeks and 22 months, respectively. Negative sero-conversion was noted between 5 and 16 months after the initiation of treatment (with a median 11 months). CONCLUSION: Although the human brucellosis patients developed chronic symptoms such as fatigue and arthralgia even after negative sero-conversion, there was no evidence of any relapse or reinfection. This may mean that antibiotic intervention is not a justifiable recommendation. We also suggest that serologic monitoring be performed for at least 16 months after the initiation of treatment.
Agglutination Tests ; Anti-Bacterial Agents ; Arthralgia ; Brucellosis* ; Convalescence ; Diagnosis ; Fatigue ; Female ; Follow-Up Studies* ; Humans* ; Incidence ; Interviews as Topic ; Jeollabuk-do ; Korea* ; Livestock ; Male ; Prevalence ; Recurrence ; Veterinarians

BACKGROUND: The first probable case of human brucellosis in Korea was reported in 2002. Since then there has been a gradual increase in the incidence and prevalence of the disease. There has not been any long-term follow-up investigation of the clinical course and serologic profiles of the disease in Korea. The present investigation is a 3 year clinical and serologic follow-up of human brucellosis patients in Chonbuk province. MATERIALS AND METHODS: The investigation involved a total of 11 patients who were positively diagnosed with brucellosis in 2003. Clinical manifestations were evaluated either directly or via telephone interviews. The serologic follow-up was done by standard tube agglutination test (SAT). Negative sero- conversion was defined as an SAT titer less than 1:40. Early convalescence was defined as clinical manifestations of brucellosis observed within 12 months of diagnosis, and delayed convalescence was defined as clinical symptoms persisting longer than 12 months. RESULTS: A total of eleven patients (8 males and 3 females; with a mean age of 45 years) participated in the study. Ten patients were livestock workers and one was a practicing veterinarian. Three years after the initial diagnosis, chronic fatigue and arthralgia were persistently observed in more than 60% of the patients in delayed convalescence. There was no evidence of relapse or reinfection of the disease. The median duration of antibiotics treatment and serologic follow-up were 11 weeks and 22 months, respectively. Negative sero-conversion was noted between 5 and 16 months after the initiation of treatment (with a median 11 months). CONCLUSION: Although the human brucellosis patients developed chronic symptoms such as fatigue and arthralgia even after negative sero-conversion, there was no evidence of any relapse or reinfection. This may mean that antibiotic intervention is not a justifiable recommendation. We also suggest that serologic monitoring be performed for at least 16 months after the initiation of treatment.
Agglutination Tests ; Anti-Bacterial Agents ; Arthralgia ; Brucellosis* ; Convalescence ; Diagnosis ; Fatigue ; Female ; Follow-Up Studies* ; Humans* ; Incidence ; Interviews as Topic ; Jeollabuk-do ; Korea* ; Livestock ; Male ; Prevalence ; Recurrence ; Veterinarians

Background: There is limited information describing the presenting characteristics and dynamic clinical changes in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection diagnosed in the early phase of illness. This study is a case series of patients with coronavirus disease 2019 (COVID-19) admitted to 11 hospitals in Korea. Methods: Patients with confirmed SARS-CoV-2 infection by positive polymerase chain reaction (PCR) testing of respiratory specimens by active surveillance that were finally discharged between February 20 and April 30, 2020 were included. Patients were classified into mild and non-mild groups on initial admission according to oxygen demand and Sequential Organ Failure Assessment score, and the mild group was followed up and subgrouped into non-aggravation and aggravation groups. Results: A total of 161 patients with SARS-CoV2 infection were enrolled. Among the mild group of 136 patients, 11.7% of patients experienced clinical aggravation during hospitalization, but there was no initial clinical parameter on admission predicting their aggravation. Fever (odds ratio [OR], 4.56), thrombocytopenia (OR, 12.87), fever (OR, 27.22) and lactate dehydrogenase (LDH) > 300 U/L (OR, 18.35), and CRP > 1 mg/dL (OR, 11.31) significantly indicated aggravation in the 1st, 2nd, 3rd, and 4th 5-day periods, respectively.PCR positivity lasted for a median of 22 days and 32 days after the onset of illness in the nonaggravation and aggravation groups, respectively. Conclusion Old age was associated with early severe presentation. Clinical aggravation among asymptomatic or mild patients could not be predicted initially but was heralded by fever and several laboratory markers during the clinical course.

The purpose of this study was to establish a prediction rule for severe illness in adult patients hospitalized with pandemic influenza A (H1N1) 2009. At the time of initial presentation, the baseline characteristics of those with severe illness (i.e., admission to intensive care unit, mechanical ventilation, or death) were compared to those of patients with non-severe illnesses. A total of 709 adults hospitalized with pandemic influenza A (H1N1) 2009 were included: 75 severe and 634 non-severe cases. The multivariate analysis demonstrated that altered mental status, hypoxia (PaO2/FiO2 < or = 250), bilateral lung infiltration, and old age (> or = 65 yr) were independent risk factors for severe cases (all P < 0.001). The area under the ROC curve (0.834 [95% CI, 0.778-0.890]) of the number of risk factors were not significantly different with that of APACHE II score (0.840 [95% CI, 0.790-0.891]) (P = 0.496). The presence of > or = 2 risk factors had a higher sensitivity, specificity, positive predictive value and negative predictive value than an APACHE II score of > or = 13. As a prediction rule, the presence of > or = 2 these risk factors is a powerful and easy-to-use predictor of the severity in adult patients hospitalized with pandemic influenza A (H1N1) 2009.
APACHE ; Adult ; Aged ; Antiviral Agents/therapeutic use ; Female ; Hospitalization ; Humans ; Influenza A Virus, H1N1 Subtype/*isolation & purification ; Influenza, Human/drug therapy/*epidemiology/mortality ; Intensive Care Units ; Male ; Middle Aged ; Pandemics ; Predictive Value of Tests ; ROC Curve ; Respiration, Artificial ; Risk Factors ; Severity of Illness Index