Background. Glucose-6-phosphate (G6PD) deficiency is the most prevalent enzyme deficiency to date. The global prevalence of G6PD deficiency is estimated at around 330 million people affected with the disease worldwide. This 4.9 percent prevalence, correlates highly with geographic areas endemic to malaria. It is the most common among the disorders in the Newborn Screening (NBS) panel in the Philippines, with one confirmed case for every 52 newborns (1:52). This paper determines the molecular background of G6PD deficiency among Filipino newborns detected by newborn screening. Methods. A total of 200 cases confirmed to have G6PD deficiency, 180 males and 20 females, were identified through the Philippine Newborn Screening Program from 2001-2003. Genomic DNA was extracted from dried blood spots followed by multiplex polymerase chain reaction using multiple tandem forward primers and a common reverse primer (MPTP) to detect previously reported common mutations and polymorphisms in exons 5, 6, 9, 11 and 12 of the G6PD gene. Results. Of the 200 samples analyzed, mutations and polymorphisms in the G6PD gene were identified in 148 cases (74%). The most common mutation was a G to A transition on nucleotide 871 (Viangchan) of exon 9 in combination with a silent mutation on exon 11, accounting for 32.9% of the cases. This was followed by a C to T transition on nucleotide 1360 (Union) in 21.1 % of the cases. Other mutations were Vanua Lava in 10%, Chatham in 9.4% and Canton in 3.5% of the newborns. The silent polymorphism on nucleotide 1311 was present in 12.9% of cases. There were combinations of these mutations and polymorphisms present in a minority of cases. Conclusion. Results of this study showed the molecular heterogeneity underlying G6PD deficiency among Filipino newborns.
Human ; Male ; Female ; Infant ; Infant Newborn ; GLUCOSEPHOSPHATE DEHYDROGENASE DEFICIENCY ; HEMIC AND LYMPHATIC DISEASES ; HEMATOLOGIC DISEASES ; ANEMIA ; ANEMIA, HEMOLYTIC ; ANEMIA, HEMOLYTIC, CONGENITAL ; NEONATAL SCREENING ; INFANT, NEWBORN, SCREENING ; NEWBORN INFANT SCREENING ; MUTATION

BACKGROUND: Enterovirus D68 (EV-D68) has been reported to have caused severe bronchial asthma attacks and hospitalization epidemics in Japan in September 2015. OBJECTIVE: To investigate the prevalence of β2-agonist inhalation in a pediatric emergency center during a period of increased hospitalization for bronchial asthma, which was suggested to be associated with EV-D68. METHODS: We investigated the prevalence of β2-agonist inhalation in a pediatric emergency center in Saga city, Japan, from April 2013 to October 2015, and also clarified the trends in bronchial asthma hospitalization in the same area during that time. RESULTS: The prevalence of β2-agonist inhalation in the pediatric emergency center, September 2015 was highest when EV-D68 became widespread. The monthly average for β2-agonist inhalation during the study period was 91 cases, but the count in September 2015 was 255 cases. Hospitalized cases of bronchial asthma in September 2015 were increased for age ≥3 years and not increased for age <3 years, but the prevalence of β2-agonist inhalation at the pediatric emergency center was increased even under the age of 3 years. CONCLUSION: During the epidemic period for EV-D68, cases requiring β2-agonist inhalation were increased. The EV-D68 epidemic may be related to not only severe cases requiring hospitalization, but also exacerbation of relatively mild symptoms of bronchial asthma.
Asthma ; Emergencies ; Enterovirus ; Hospitalization ; Humans ; Inhalation ; Japan ; Outpatients ; Prevalence

The favorable effects of estrogen on cardiovascular diseases can be explained by several mechanisms such as changes in serum lipid profiles and thrombogenecity. Estrogen also affects the vascular tone, but there has been no report in which the effect of estrogen was tested comprehensively for several vasoactive substances, especially after long-term administration. Two weeks after bilateral ovariectomy in 8-week old female Sprague-Dawley rats, placebo or 17 beta-estradiol (E2) pellets (0.5 mg; released over 3 weeks) were implanted subcutaneously. Two weeks after pellet implantation, organ chamber experiments were performed using aortae. Compared with control, E2-treated vessels showed impaired endothelium-dependent relaxation to acetylcholine. E2 enhanced the contraction to norepinephrine and U46619 and had no effect on endothelin-1-induced contraction. In contrast, the contraction to angiotensin (AT)-II was inhibited by E2. Northern blot analysis for AT1 receptor expression using cultured aortic smooth muscle cells showed no difference between control and E2-treated cells, suggesting that AT1 receptor downregulation is not the likely mechanism. These results suggest that E2 affects the vascular tone variably according to vasoactive substances.
Animal ; Estradiol/pharmacology* ; Female ; In Vitro ; Ovariectomy* ; Rats ; Rats, Sprague-Dawley ; Vasoconstrictor Agents/pharmacology* ; Vasodilator Agents/pharmacology* ; Vasomotor System/drug effects*

Adrenal Insufficiency ; genetics ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, X ; genetics ; Gene Deletion ; Glycerol Kinase ; deficiency ; genetics ; Humans ; Male ; Muscular Dystrophy, Duchenne ; genetics ; Sex Chromosome Aberrations

Methods: LSS patients who underwent decompression surgery with or without fusion were included. Clinical outcomes were measured before surgery and 6 months postoperatively using the Zurich Claudication Questionnaire (ZCQ); Visual Analog Scale (VAS) of low back pain, leg pain, and leg numbness; Japanese Orthopaedic Association Back Pain Evaluation Questionnaire; and the Medical Outcomes Study 36-item Short-Form General Health Survey (SF-36). The Hospital Anxiety and Depression Scale (HADS), Pain Catastrophizing Scale, and Pain Anxiety Symptoms Scale were used to evaluate psychological status before surgery. Patients were classified as satisfied or dissatisfied with surgery based on a ZCQ satisfaction subscale cutoff score of 2.5. Results: The satisfied and dissatisfied groups contained 128 and 29 patients, respectively. Six months postoperatively, outcome scores for the dissatisfied group were unchanged or worse than preoperative scores (p>0.05). Multivariate logistic regression analysis showed significant associations between dissatisfaction and preoperative low back pain VAS score ≥ median (odds ratio [OR], 0.27; 95% confidence interval [CI], 0.10–0.74; p=0.01), preoperative mental health SF-36 score ≥ median (OR, 0.26; 95% CI, 0.08–0.89; p=0.03), and preoperative anxiety HADS score ≥ median (OR, 3.95; 95% CI, 1.16–13.46; p=0.03). Conclusions Preoperative less severe low back pain, lower mental health, and higher anxiety are associated with patient dissatisfaction with lumbar surgery, not depression, pain catastrophizing, or fear-avoidance beliefs. Pre- and postoperative psychological status should be assessed carefully and managed appropriately.

Surgery for a shaggy aortic aneurysm requires a meticulous strategy to prevent embolic complications since the complications are associated with longer length of hospital stay and higher mortality. However, until now, there are no established treatment options to prevent embolic complications. We report a case of a 75-year-old man with a descending aortic aneurysm and a shaggy aorta who underwent thoracic endovascular aortic repair (TEVAR) with major branch artery protection. During the procedure, we placed balloon catheters in the left subclavian and left common iliac arteries, a filter device in the superior mesenteric artery, and a sheath at the ostium of the right common iliac artery. The patient did not develop embolic or other complications and was discharged on the eighth postoperative day. Our strategy of using the balloon occlusion technique and filter placement at the major vessels effectively prevented embolic complications during TEVAR for a shaggy aorta.