Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Background and Objectives: Prior studies have shown that stroke patients treated with percutaneous left atrial appendage occlusion (LAAO) for non-valvular atrial fibrillation (NVAF) experience better outcomes than similar patients treated with warfarin. We investigated the impact of percutaneous left atrial appendage closure on post-stroke neurological outcomes in NVAF patients, compared with non-vitamin K antagonist oral anticoagulant (NOAC) therapy. Methods: Medical records for 1,427 patients in multiple registries and for 1,792 consecutive patients at 6 Korean hospitals were reviewed with respect to LAAO or NOAC treatment.Stroke severity in patients who experienced ischemic stroke or transient ischemic attack after either treatment was assessed with modified Rankin Scale (mRS) scoring at hospital discharge and at 3 and 12 months post-stroke. Results: mRS scores were significantly lower in LAAO patients at 3 (p<0.01) and 12 months (p<0.01) post-stroke, despite no significant differences in scores before the ischemic cerebrovascular event (p=0.22). The occurrences of disabling ischemic stroke in the LAAO and NOAC groups were 36.7% and 44.2% at discharge (p=0.47), 23.3% and 44.2% at 3 months post-stroke (p=0.04), and 13.3% and 43.0% at 12 months post-stroke (p=0.01), respectively.Recovery rates for disabling ischemic stroke at discharge to 12 months post-stroke were significantly higher for LAAO patients (50.0%) than for NOAC patients (5.6%) (p<0.01). Conclusions Percutaneous LAAO was associated with more favorable neurological outcomes after ischemic cerebrovascular event than NOAC treatment.

Background and Objectives: Prior studies have shown that stroke patients treated with percutaneous left atrial appendage occlusion (LAAO) for non-valvular atrial fibrillation (NVAF) experience better outcomes than similar patients treated with warfarin. We investigated the impact of percutaneous left atrial appendage closure on post-stroke neurological outcomes in NVAF patients, compared with non-vitamin K antagonist oral anticoagulant (NOAC) therapy. Methods: Medical records for 1,427 patients in multiple registries and for 1,792 consecutive patients at 6 Korean hospitals were reviewed with respect to LAAO or NOAC treatment.Stroke severity in patients who experienced ischemic stroke or transient ischemic attack after either treatment was assessed with modified Rankin Scale (mRS) scoring at hospital discharge and at 3 and 12 months post-stroke. Results: mRS scores were significantly lower in LAAO patients at 3 (p<0.01) and 12 months (p<0.01) post-stroke, despite no significant differences in scores before the ischemic cerebrovascular event (p=0.22). The occurrences of disabling ischemic stroke in the LAAO and NOAC groups were 36.7% and 44.2% at discharge (p=0.47), 23.3% and 44.2% at 3 months post-stroke (p=0.04), and 13.3% and 43.0% at 12 months post-stroke (p=0.01), respectively.Recovery rates for disabling ischemic stroke at discharge to 12 months post-stroke were significantly higher for LAAO patients (50.0%) than for NOAC patients (5.6%) (p<0.01). Conclusions Percutaneous LAAO was associated with more favorable neurological outcomes after ischemic cerebrovascular event than NOAC treatment.

Background and Objectives: In acute ST-segment elevation myocardial infarction (STEMI),on-site transmission of electrocardiogram (ECG) has been shown to reduce systemic timedelay to reperfusion and improve outcomes. However, it has not been adopted in communitybasedemergency transport system in Korea. Methods: Busan Regional Cardio-cerebrovascular Center and Busan Metropolitan City Fireand Safety Headquarters (BMFSH) jointly developed and conducted a pre-hospital ECGtransmission program. Seven tertiary hospitals and 22 safety stations of BMFSH participated.Systemic time delay to reperfusion of STEMI patients in the program was compared with thatof 95 patients transported by 119 emergency medical system (EMS) before the program wasimplemented. Results: During the study period, 289 ECG transmissions were made by 119 EMS personnel,executed within 5 minutes in 88.1% of cases. Of these, 42 ECGs were interpreted as STsegmentelevation. Final diagnosis of STEMI was made in 20 patients who underwent primarypercutaneous coronary intervention. With the program, systemic time delay to reperfusion wassignificantly reduced (median [interquartile range; IQR], 76.0 [62.2–98.7] vs. 90.0 [75.0–112.0],p<0.01). Significant reduction of door-to-balloon time was also observed (median [IQR], 45.0[34.0–69.5] vs. 58.0 [51.0–68.0], p=0.03). The proportion of patients with systemic time delayshorter than 90 minutes rose (51.6% vs. 75.0%, p=0.08) with pre-hospital ECG transmission. Conclusions We developed and implemented a community-based pre-hospital ECG transmission program for expeditious triage of STEMI patients. Significant reductions ofsystemic time delay and door-to-balloon time were observed. The expanded use of prehospitalECG transmission should be encouraged to realize the full potential of this program.

BACKGROUND: Understanding the epidemiology of anaphylaxis is imperative for appropriate diagnosis and treatment, but the prevalence reportedly varies and only a few studies have compared the clinical features of anaphylaxis with the underlying causes in Korea. OBJECTIVE: This study aimed to investigate the etiology and clinical features of anaphylaxis. METHODS: We retrospectively reviewed the medical records of 319 anaphylaxis patients who visited our emergency room and extracted information on the causes, clinical characteristics, and subsequent outpatient visits. RESULTS: Food, drugs, and environmental factors were common causes of anaphylaxis. Statistically significant differences (p<0.001) were observed between children (<18 years of age) and adults (≥18 years of age), with food and drugs identified as the most common causes, respectively. Clinical characteristics of the patients were compared according to the common causes of anaphylaxis. Cutaneous symptoms were observed more frequently in food-induced cases (n=137, 95.1%) compared to drug-induced (n=73, 77.7%) and bee sting-induced (n=18, 78.3%) cases (p<0.001), whereas neurological symptoms were observed more frequently in drug-induced (n=37, 39.4%) and bee sting-induced (n=11, 47.8%) cases than in food-induced (n=18, 12.5%) cases (p<0.01). Drug-induced (n=44, 46.8%) and bee sting-induced (n=11, 47.8%) cases were more severe than food-induced cases (n=32, 22.2%). Out of the 319 assessed patients, only 25, 14, and 14 patients were referred to the pediatrics, allergy, and dermatology departments, respectively, after visiting the emergency room. CONCLUSION: Clinical characteristics of anaphylactic patients differed according to the underlying cause, but these findings are presumably influenced by factors determining the severity of anaphylaxis. We found that subsequent follow-up care in other departments to identify the cause of anaphylaxis was inadequate for most patients.
Adult ; Anaphylaxis ; Bees ; Child ; Dermatology ; Diagnosis ; Emergencies ; Emergency Service, Hospital ; Epidemiology ; Follow-Up Studies ; Humans ; Hypersensitivity ; Korea ; Medical Records ; Outpatients ; Pediatrics ; Prevalence ; Retrospective Studies ; Tertiary Care Centers

No abstract available.
Aged ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Bone Marrow Cells/cytology/pathology ; Female ; Flow Cytometry ; Fusion Proteins, bcr-abl/*genetics ; Granulocyte Colony-Stimulating Factor/therapeutic use ; Humans ; Immunophenotyping ; Leukemia/*diagnosis/etiology ; Lymphoma, Large B-Cell, Diffuse/*drug therapy ; Phenotype ; Rituximab/administration & dosage

In 2007, seven detector dogs were produced by somatic cell nuclear transfer using one nuclear donor dog, then trained and certified as excellent detector dogs, similar to their donor. In 2011, we crossed a cloned male and normal female by natural breeding and produced ten offspring. In this study, we investigated the puppies' temperaments, which we later compared with those of the cloned parent male. The results show that the cloned male had normal reproductive abilities and produced healthy offspring. All puppies completed narcotic detector dog training with a success rate for selection of 60%. Although the litter of cloned males was small in this study, a cloned male dog bred by natural mating produced puppies that later successfully completed the training course for drug detection. In conclusion, cloning an elite dog with superior genetic factors and breeding of the cloned dog was found to be a useful method to efficiently procure detector dogs.
Animals ; Breeding ; Clone Cells* ; Cloning, Organism ; Dogs* ; Female ; Humans ; Male* ; Methods ; Parents ; Temperament ; Tissue Donors

No abstract available.
Abnormalities, Multiple/*genetics/pathology ; *Chromosomes, Human, Pair 14 ; Clubfoot/*genetics/pathology ; Female ; Gene Duplication ; Heart Defects, Congenital/*genetics/pathology ; Humans ; Infant, Newborn ; Karyotype ; Oligonucleotide Array Sequence Analysis