Primary immune deficiencies (PID), or more recently, inborn errors of immunity (IEI), resulting from genetic defects of the immune system may present with increased susceptibility to infections, persistent inflammation, and autoimmunity. With recent introduction of next generation sequencing, the number of IEIs increases rapidly, reaching to 484 in 2022. Hematopoietic stem cell transplantation (HSCT) has been used over decades as a mainstay of specific treatment modality, while gene therapy and pharmacologic approach have been attempted with promising results in some PID in recent years. The survival following allogeneic HSCT for PID is now generally ＞80%. The indication and timing of transplant must be individualized not only on the basis of the specific PID but also on the characteristics of the individual patient. For the successful transplant outcome, the choice of donor and the optimal pretransplant conditioning regimen is important. This article will discuss current status and recommendations from specialists in HSCT for some representative PID, including severe combined immunodeficiency (SCID), CD40 ligand or CD40 deficiency, Wiskott-Aldrich syndrome, hemophagocytic lymphohistiocytosis, and chronic granulomatous disease, along with our personal experience of PID treatment in Korea.

We report a case of calcific tendinopathy of the gluteus medius initially misdiagnosed as a lumbar herniated intervertebral disc. It was successfully treated with barbotage under ultrasonographic guidance finally. A 56-year-old woman was referred to interventional pain clinic for right hip pain due to an L5-S1 disc herniation. Serial L5 and S1 spinal nerve root blocks and epidural steroid injections were administered. However, pain relief was sustained only for a very short period. Plain radiography of the right hip revealed a solid calcific nodule at adjacent to the insertion site of the gluteus medius tendon. Physical modalities and extracorporeal shock wave therapy failed to improve the pain. Therefore, we attempted ultrasound-guided barbotage of the calcification. Barbotage was performed twice serially and her pain was considerably improved. At 6-month follow-up, the calcification was completely resolved.
Female ; Follow-Up Studies ; Hip ; Humans ; Intervertebral Disc ; Middle Aged ; Pain Clinics ; Radiography ; Shock ; Spinal Nerve Roots ; Tendinopathy* ; Tendons

Dysphagia and voiding difficulty after hypoglycemic encephalopathy (HE) are not well described in the literature. Additionally, the effect of rehabilitation on outcomes of HE has not been discussed enough. Here we report two cases of HE, who underwent comprehensive rehabilitative management. A 76-year-old man with HE had cognitive dysfunction, dysphagia, poor standing balance, and voiding difficulty. After rehabilitation for about 20 days, the patient's swallowing, gait, and voiding function was improved remarkably, and he could eat a tolerable diet, walk independently, and void without catheterization. However, the cognitive function changed a little. A 75-year-old woman with HE had cognitive dysfunction, impaired gait, dysphagia, and voiding difficulty. After rehabilitation for one month, the patient made progress in swallowing and gait. However, the cognitive function changed a little. After rehabilitation, the recovery of swallowing and locomotor function was rapid and satisfactory in two cases, however, the progress of cognitive function was not definite.
Aged ; Catheterization ; Catheters ; Deglutition ; Deglutition Disorders* ; Diet ; Female ; Gait ; Humans ; Rehabilitation*

To identify the central innervating the mammary nerve, viral retrograde transneuronal labelling methods were employed. Pseudorabies virus 6 microliter was injected into the mammary nerve of adult female Sprague-Dawley rats. After 4 days of survival, the animals were perfused with 4% paraformaldehyde-lysine periodate and their brains were processed for immunohistochemistry and double immunofluorescent staining of Pseudorabies virus or oxytocin using polyclonal antibodies. Several nuclei in brain were retrogradely labelled with Pesudorabies virus.Only a few magnocellular neurons of the paraventricular nucleus throughout whole brain showed double immunoreactivity to Pseudorabies virus and oxytocin. Approximately 11 percent of the oxytocinergic cells of the paraventricular nucleus,especially in three subnuclei[dorsomedial cap, lateral magnocelluar part and ventral part] showed double positive reaction to both Pseudorabies virus and oxytocin. These data demonstrate that some CNS cells projecting to the mammary nerve contained oxytocin and it may acts as a neurotransmitter in this pathway and a hormone targeting milk production and secretion.
Adult ; Animals ; Antibodies ; Brain ; Female ; Herpesvirus 1, Suid ; Humans ; Immunohistochemistry ; Milk ; Neurons ; Neurotransmitter Agents ; Oxytocin ; Paraventricular Hypothalamic Nucleus ; Pseudorabies ; Rats* ; Rats, Sprague-Dawley

Recently, in Korea, the importance of preparation and use of injectable drugs has been emphasized due to successive fatal accidents caused by injection infections. Parenteral nutrition (PN) has also been identified as a cause of infection. Cases of infection due to PN have been reported not only in Korea, but also abroad, and contamination occurs mainly during the preparation of PN. Because sterile preparation and compounding of injections are very important for infection control and patient safety, this article reviews the major guidelines outlined thus far. The Korea Ministry of Food and Drug Safety in 2006 published guidelines and the KSHP (Korean Society of Health-System Pharmacists) recently issued guidelines for the aseptic preparation of injections. In addition, as US guidelines, the ASHP (American Society of Health-System Pharmacists) guidelines and United States Pharmacopeia (USP) < 797 > are also reviewed. The recent guidelines published by the KSHP have significance in that they were adopted in accordance with the domestic reality, even though they conform to foreign guidelines, and are expected to be guidelines for hospital pharmacists performing aseptic preparation work. In addition, the Korea Ministry of Health and Welfare is considering appropriate guidelines for the safe management of medications, training staff for infection prevention and strengthening staff capacity. Furthermore, the gradual expansion of aseptic compounding facilities and human resources, as well as the provision of adequate medical costs are also considered. Based on the establishment and standardization of injectable drugs compounding guidelines for Korean hospitals, it is believed that if human resources and facilities are supported and medical charges are improved, it will be possible to expect the safer preparation and use of injections.
Drug Compounding ; Humans ; Infection Control* ; Korea ; Parenteral Nutrition* ; Patient Safety ; Pharmacists ; United States

The authors revised some errors regarding Table 5 and 6 in the article as the corrigendum. Because it is not official and may be changed in the revision due out in June 2019, Table 5 and 6 should be deleted and do not refer to it.

PURPOSE: Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red cell transfusions are the mainstays of therapy. We describe our experience of 6 cases of DBA that were encountered over a period of 16 years. METHODS: Medical records of 6 patients diagnosed to have DBA and admitted to the Chonnam National University Hospital between 1992 and 2008 were retrospectively reviewed. RESULTS: Three patients were males. The age at diagnosis ranged from 3 to 18 months (median, 5.5 months). Heart defects were observed in 4, polydactyly in 2, and strabismus in 1 patient. The median number of transfusions was 3 (range, 2 -8). All patients responded to initial treatment with steroids and had a hemoglobin level > or =9 g/dL with a median of 12.5 days (range, 7-22 days). Three patients are currently not receiving steroid therapy. A minimum dose of oral prednisolone (<5 mg per day) was required to maintain hemoglobin > or =9 mg/dL in 3 cases. Red cell transfusion was infrequently required in 1 patient. In the median follow-up of 14 years, there was no development of malignancy. No significant side effects of steroids were found, except for short stature in 2. CONCLUSION: The majority of DBA patients achieved complete response and under maintenance therapy with low dose of steroids. Close observation is needed to monitor steroid side effects, cardiac function, and development of malignancy. A nation-wide survey is necessary to further characterize this rare disease in Korean children.
Adrenal Cortex Hormones ; Anemia, Diamond-Blackfan ; Child ; Follow-Up Studies ; Heart ; Hemoglobins ; Humans ; Male ; Medical Records ; Organothiophosphorus Compounds ; Polydactyly ; Prednisolone ; Rare Diseases ; Retrospective Studies ; Steroids ; Strabismus

PURPOSE: The incidence of gastrointestinal stromal tumors (GISTs) harboring platelet-derived growth factor receptor alpha (PDGFRA) mutations is low, therefore further investigation of the efficacy of imatinib in this subgroup was needed. MATERIALS AND METHODS: Patients with PDGFRA-mutant GISTs who received imatinib as primary therapy for advanced disease between January 2000 and June 2012 were identified from the GIST registry of Asan Medical Center, Seoul, Korea. RESULTS: KIT and PDGFRA genotyping in 823 patients identified 18 patients (2%) with PDGFRA mutations who were treated with first-line imatinib. Exon 18 D842V substitution, non-D842V exon 18 mutations, and exon 12 mutations were detected in nine (50%), four (22%), and five (28%) patients, respectively. Objective response rate differed significantly between patients with the D842V mutation and those with non-D842V mutations (0% [0/5] vs. 71% [5/7], p=0.03). In all patients, median progression-free survival (PFS) and overall survival (OS) was 24.8 months (95% confidence interval [CI], 0.0 to 57.2) and 51.2 months (95% CI, 37.1 to 65.3), respectively. Significantly, poorer PFS was observed for patients with D842V-mutant GISTs than those with non-D842V PDGFRA-mutant GISTs: median 3.8 months (95% CI, 1.4 to 6.3) versus 29.5 months (95% CI, 18.3 to 40.7) (p < 0.001). Patients with the D842V mutation had poorer OS than those with non-D842V PDGFRA mutations: median 25.2 months (95% CI, 12.7 to 37.8) versus 59.8 months (95% CI, 43.0 to 76.5) (p=0.02). CONCLUSION: Imatinib is active against non-D842V PDGFRA-mutant GISTs, whereas GISTs harboring the D842V mutation are primarily resistant to imatinib.
Chungcheongnam-do ; Disease-Free Survival ; Exons ; Gastrointestinal Stromal Tumors ; Humans ; Incidence ; Korea ; Platelet-Derived Growth Factor* ; Receptors, Platelet-Derived Growth Factor* ; Seoul

BACKGROUND AND PURPOSE: Recently published, evidence-based guidelines should alter the management of amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). However, the newest recommendations for ALS/MND therapy are not reflected in actual clinical practice. We sought to evaluate the current status of the diagnosis and management of ALS in Korea. METHODS: The Korean ALS/MND research group was organized in 2010, involving more than 50 neurologists from neuromuscular centers in Korea. Participating centers collected data from April to September 2010 on the diagnosis and management of patients with ALS. Data forms from the ALS patient care database, which is a component of the ALS clinical assessment, research, and education program (http://www.outcomes-umassmed.org/ALS/), were modified and used for data collection. RESULTS: In total, 373 sporadic ALS cases from 35 centers were enrolled. The demographic features and clinical findings were similar to those in previous reports from other countries. The mean age at onset was 50-60 years, and a slight male predominance was observed. The enrolled patients predominantly showed focal onset of cervical or lumbosacral symptoms. Only about one-half of the indicated patients (31.4%) received a physician's recommendation for a parenteral gastrostomy, and 18.1% underwent the procedure. Noninvasive ventilation was recommended in 23% of patients, but applied in only 9.5% of them. Tracheostomy was performed in 12.7% of patients. CONCLUSIONS: The demographic and clinical features of the diagnosis and management of ALS in Korea are similar to those reported in other countries; however, supportive management, as recommended in evidence-based guidelines, are not yet widely recommended or performed for patients with ALS in Korea.
Amyotrophic Lateral Sclerosis ; Cross-Sectional Studies ; Gastrostomy ; Humans ; Korea ; Male ; Neurons ; Noninvasive Ventilation ; Palliative Care ; Patient Care ; Tracheostomy

PURPOSE: We wanted to evaluate the efficacy and safety of using ultrasound guided percutaneous radiofrequency ablation for the benign nodules of the thyroid gland. MATERIALS AND METHODS: We studied 148 patients with benign thyroid nodules (200 total nodules) that were confirmed histopathologically, and we performed ultrasound guided radiofrequency ablation. The radiofrequency ablation was done 1 to 5 times per one nodule, and follow-up ultrasonography was performed one to nineteen months after the ablation procedures. The physical changes and the decrease of volume of the nodules were evaluated, and the complications related to radiofrequency ablation were observed. RESULTS: The mean initial nodule volume was 0.01-95.61 ml (mean; 6.83+/-SD of 10.63 ml) and the nodule volume after radiofrequency ablation was decreased to 0.00-46.56 ml (mean; 1.83+/-SD of 4.69 ml). The mean volume reduction rate was 73.2%. Reduction of more than 50% was noted in 90% of all cases. For 180 nodules (90%), the decrease was 50% or more, in 20 nodules (10%), the decrease was 49% or less. On gray-scale ultrasonogram obtained after ablation, the echogenicity of the nodules changed to darker, and on the doppler-sonogram, the vascular flow within the nodules disappeared in all cases. Most patients complained pain during or right after the procedure, but the pain was transient and subsided after medication. Two patients developed hoarseness that was improved in 1 week and 2 months, respectively. CONCLUSION: Sonoguided percutaneous radiofrequency ablation can be one of the treatments for benign nodules of the thyroid gland.
Catheter Ablation* ; Follow-Up Studies ; Hoarseness ; Humans ; Thyroid Gland* ; Thyroid Nodule ; Ultrasonography