Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review

Hypokalemic periodic paralysis (hypoPP) is a disorder characterized by episodic, short-lived, and hypo-reflexive skeletal muscle weakness. HypoPP is a rare disease caused by genetic mutations related to expression of sodium or calcium ion channels. Most mutations are associated with autosomal dominant inheritance, but some are found in patients with no relevant family history. A 28-year-old man who visited the emergency room for paralytic attack was assessed in this study.He exhibited motor weakness in four limbs. There was no previous medical history or family history. The initial electrocardiogram showed a flat T wave and QT prolongation. His blood test was delayed, and sudden hypotension and bradycardia were observed. The blood test showed severe hypokalemia. After correcting hypokalemia, his muscle paralysis recovered without any neurological deficits. The patient’s thyroid function and long exercise test results were normal. However, because of the history of high carbohydrate diet and exercise, hypoPP was suspected. Hence, next-generation sequencing (NGS) was performed, and a mutation of Arg669His was noted in the SCN4A gene. Although hypoPP is a rare disease, it can be suspected in patients with hypokalemic paralysis, and iden tification of this condition is important for preventing further attacks and improving patient outcomes. Diagnosing hypoPP through targeted NGS is a cost-effective and useful method.

Acute Kidney Injury and Kidney Damage in COVID-19 Patients

Background@#Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. This disease, which is quickly spreading worldwide, has high potential for infection and causes rapid progression of lung lesions, resulting in a high mortality rate. This study aimed to investigate the effects of SARS-CoV-2 infection on renal function in patients with COVID-19. @*Methods@#From February 21 to April 24, 2020, 66 patients diagnosed with COVID-19 at Chungnam National University Hospital were analyzed; all patients underwent routine urinalysis and were tested for serum creatinine, urine protein to creatinine ratio (PCR), and urine albumin to creatinine ratio (ACR). @*Results@#Acute kidney injury (AKI) occurred in 3 (4.5%) of the 66 patients, and 1 patient with AKI stage 3 underwent hemodialysis. Upon follow-up, all 3 patients recovered normal renal function. Compared with patients with mild COVID-19, AKI (n = 3) occurred in patients with severe COVID-19, of whom both urine PCR and ACR were markedly increased. @*Conclusion@#The incidence of AKI was not high in COVID-19 patients. The lower mortality rate in SARS-CoV-2 infection compared with previous Middle East respiratory syndrome and SARS-CoV infections is thought to be associated with a low incidence of dysfunction in organs other than the lungs.

Transient Blindness in a Patient with Severe Metformin-Associated Lactic Acidosis (MALA)

A 68-year-old man presented at the emergency room with sudden blindness. The day before, he had eaten sashimi and eel and drank alcohol for dinner. He experienced nausea, vomiting, and dizziness afterward. His medical history included hypertension and diabetes, and the latter was treated with metformin. Initial laboratory tests revealed severe metabolic acidosis (lactic acidosis). Massive hydration and intravenous sodium bicarbonate replacement therapies were initiated, but severe metabolic acidosis (lactic acidosis) did not resolve, in turn, leading to hemodialysis, which decreased metabolic acidosis. The patient's blindness improved, and his vision gradually recovered. As it is not easy to distinguish between blindness related to metformin-associated lactic acidosis (MALA) and blindness related to other causes, rapid correction of metabolic acidosis through hemodialysis might be helpful in differentiating this from of blindness from blindness related to other causes.

Adenocarcinoma of the Lung Progressing to Multiple Cystic Lesions in a 29-Year-Old Man / 결핵및호흡기질환

Cystic lesions or progressive cystic changes in adenocarcinoma of the lung have rarely been reported. We report a case of lung adenocarcinoma that progressed from ground-glass opacities (GGOs) and consolidations or nodules to extensive cystic lesions during 12 months in a young adult patient. A 29-year-old male was initially diagnosed with primary lung adenocarcinoma by transbronchial lung biopsy of the right lower lobe and lung to lung metastasis in both lungs according to imaging findings. The initial chest computed tomography (CT) scans showed multifocal GGOs, consolidations, and nodules in both lungs. Despite treatment with palliative chemotherapy, the patient's follow-up CT scans showed multiple, cystic changes in both lungs and that the lesions had progressed more extensively. He died of hypoxic respiratory failure one year after his diagnosis.

Bacteriology, Antibiotic Susceptibility and Empirical Antibiotics of Community-acquired Perforated Appendicitis / 감염과화학요법

BACKGROUND: The aim of this study was to study bacteriology and antibiotic susceptibility in patients with community-acquired perforated appendicitis over a five-year-period. MATERIALS AND METHODS: We conducted a retrospective review of the records of adult patients (age > or =18 years) who were diagnosed as having perforated appendicitis at Ulsan University Hospital between January 2007 and December 2011. Patients who had healthcare-associated or hospital-acquired appendicitis were excluded. Intraoperative specimens submitted to the microbiology laboratory were obtained either by aspiration of pus into a syringe or by use of a swab. Anaerobic bacterial cultures were not performed. RESULTS: Among 216 adult patients with perforated appendicitis, we analyzed 163 culture-positive cases. The overall mortality rate of patients was 0.6% (1/163). Escherichia coli was the most common pathogen (93/163, 57.0%), followed by Streptococcus spp. (45/163, 27.6%), Pseudomonas aeroginosa (13/163, 7.9%), and Enterococcus spp. (17/163, 10.4%). The susceptibility of E. coli to quinolones (ciprofloxacin or levofloxacin) was 74.1%. The susceptibility of E. coli to amoxicillin/clavulanate, cefoxitin, ceftriaxone, piperacillin/tazobactam, and carbapenem reached 75%, 86%, 90%, 98%, and 100%, respectively. Isolated E. coli, including ESBL producing organism and P. aeroginosa, were highly susceptible to piperacillin/tazobactam. Empirical antibiotics used most commonly were a combination of third generation cephalosporin and metronidazole. CONCLUSION: E. coli was the most common pathogen of community-acquired perforated appendicitis, and resistance to quinolone was greater than 25%. We cannot recommend quinolones for use as empirical therapy for treatment of perforated appendicitis.