1.Duchenne muscular dystrophy in a Filipino boy reaching adulthood, and nine years into oral corticosteroids: A case report
Erwin Damian V. Marcelo ; Raymond L. Rosales
Journal of Medicine University of Santo Tomas 2023;7(1):1181-1185
Rationale:
Duchenne muscular dystrophy (DMD) is a disease that primarily manifests in the early stages of life and progressively affects muscle strength resulting in quadriparesis and ultimately resulting in premature death secondary to cardiac or respiratory failure. DMD is the most common x-linked genetic disorder in children that is because of an alteration of a protein called “dystrophin” which is responsible for strengthening muscle fibers and protecting them from injury as muscles contract and relax.
Objective:
To highlight the case of a 19-year-old male who was diagnosed with DMD at 8 years of age and treated with oral corticosteroid and rehabilitation.
Case:
We present the case of a 19-year-old male who developed difficulty climbing stairs and was diagnosed with DMD at 8 years old with the use of clinical exome sequencing. Corticosteroid therapy was initiated and rehabilitation perpetuated which dramatically improved his life expectancy.
Discussion and Summary
Clinical exome sequencing was employed on our patient to confirm the diagnosis of DMD from other neuromuscular and neurodegenerative diseases. Most cases of DMD succumb to cardiopulmonary arrest before reaching adulthood; however, this case exemplifies DMD from other cases since our patient was able to prolong his life with continuation of oral corticosteroid and rehabilitation and in the absence of extensive life support.
Dystrophin
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Mortality, Premature
2.Burden of Premature Mortality in Malaysia
Ummi Nadiah Yusoff ; Diana Mahat ; Azahadi Omar ; Teh Chien Huey ; Norzawati Yoep ; Riyanti Saari
International Journal of Public Health Research 2013;3(1):249-256
Mortality estimates are important parameters for health monitoring and are routinely used as evidence for health policy and planning. This study aimed to estimate the mortality component of Burden of Disease in Malaysia in 2008. The 2008 mortality data from the Statistics Department were used to estimate cause-specific mortality (by age and sex) in Malaysia. Data were coded using the ICD10 (International Classification of Disease) coding. Calculation of mortality component of Burden of Disease (ie: Years of Life Lost (YLL) was done using the standard Global Burden of Disease Methodology. The total estimated deaths in Malaysia in 2008 were 124,857, of which 72,202 (57.8%) were males. The total years of life lost (YLL) for the Malaysian population in 2008 was 1.51 million in which 0.92 million (60.7%) was among males. Almost three quarter (68%) of the burden of premature deaths resulted from non-communicable diseases, followed by communicable diseases (20%) and injury (12%). Among the top three leading causes of YLL were ischaemic heart disease (17.1%), stroke (9.6%) and road traffic injuries (8.3%). In Malaysia, premature mortality mainly contributed by non-communicable diseases followed by communicable diseases and injury. A multi-agency collaboration is needed to prevent premature death and to improve quality of life.
mortality
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Cause of Death
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Life Expectancy
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Mortality, Premature
3.The status, causes and solutions to reduce children mortality at Thai Binh province, 2001-2010 period
Journal of Vietnamese Medicine 2004;297(4):64-68
Analysis of 1.701 cases of children mortality under 14 years old at 7 districts and Thai Binh city, from January 1998 to December 2000. The results: early neonatal mortality (< 7days) or a part of prenatal mortality accounted for 35.3%; neonatal mortality 41.6%, children mortality under 1 year old: 57.6%; children mortality under 5 years old: 83.5% compared with children mortality total under 14 years old. Children mortality rate under 1 year old was 13.22%o; Children mortality rate under 5 years old trended to decrease from 23.3%o (1998) to 17.5%o (2000). The main causes of children mortality was cerebral diseases, meninges diseases; respiratory diseases, cardiovascular disease; then some accidents as drowning, electric shock, traffic accident and the third was premature birth
Child
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Mortality
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Cerebral Arterial Diseases
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Premature Birth
4.Indoor Radon and Lung Cancer: Estimation of Attributable Risk, Disease Burden, and Effects of Mitigation.
Si Heon KIM ; Sang Baek KOH ; Cheol Min LEE ; Changsoo KIM ; Dae Ryong KANG
Yonsei Medical Journal 2018;59(9):1123-1130
PURPOSE: Exposure to indoor radon is associated with lung cancer. This study aimed to estimate the number of lung cancer deaths attributable to indoor radon exposure, its burden of disease, and the effects of radon mitigation in Korea in 2010. MATERIALS AND METHODS: Lung cancer deaths due to indoor radon exposure were estimated using exposure-response relations reported in previous studies. Years of life lost (YLLs) were calculated to quantify disease burden in relation to premature deaths. Mitigation effects were examined under scenarios in which all homes with indoor radon concentrations above a specified level were remediated below the level. RESULTS: The estimated number of lung cancer deaths attributable to indoor radon exposure ranged from 1946 to 3863, accounting for 12.5–24.7% of 15623 total lung cancer deaths in 2010. YLLs due to premature deaths were estimated at 43140–101855 years (90–212 years per 100000 population). If all homes with radon levels above 148 Bq/m3 are effectively remediated, 502–732 lung cancer deaths and 10972–18479 YLLs could be prevented. CONCLUSION: These findings suggest that indoor radon exposure contributes considerably to lung cancer, and that reducing indoor radon concentration would be helpful for decreasing the disease burden from lung cancer deaths.
Korea
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Lung Neoplasms*
;
Lung*
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Mortality, Premature
;
Radon*
5.Management of Preterm Labor.
Yeungnam University Journal of Medicine 1999;16(2):141-154
Premature birth is the single largest cause of perinatal mortality and morbidity in nonanomalous infants in developing countries. Advances in neonatal care have lead to increased survival and reduced short and long term morbidity for preterm infants. but the rate of preterm birth has actually increased. This review provides recent multifactorial approaches to treatment and prevention of preterm birth.
Developing Countries
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Female
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Humans
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Infant
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Infant, Newborn
;
Infant, Premature
;
Obstetric Labor, Premature*
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Perinatal Mortality
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Pregnancy
;
Premature Birth
6.The Up-to-date Informations of Progesterone Supplementation for Prevention of Preterm Birth.
Kosin Medical Journal 2013;28(1):1-6
Preterm birth (PTB) remains a major cause of neonatal mortality and morbidity, despite improvements in tocolytic treatment and neonatal care. Progesterone (17a-hydroxyprogesterone) produced naturally or synthetically can prevent PTB when applied vaginally and orally. Progesterone use may be a safe and cost-effective option in cases of singleton pregnancy with prior PTB, asymptomatically short cervix and arrested preterm labor.
Cervix Uteri
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Female
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Humans
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Infant
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Infant Mortality
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Obstetric Labor, Premature
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Pregnancy
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Premature Birth
;
Progesterone
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Tocolysis
7.Assessment of mortality risky factors in low birth weight and premature newborns, who admitted in the Intensive Care Unit of Hospital of Sick Children N02 from 2000 to 2002
Journal of Practical Medicine 2004;471(1):40-43
The study was carried out on 58 premature newborn underweight babies at the Department of Rehabilitation of Pediatric Hospital, HCM City from Jan 1999 to May 2002. The babies have been monitored from the first 12th hour after birth to the discharge day of hospital. Results showed that premature newly born underweigh babies with disturbance of oxygene metabolism and acidosis blood metabolism had got the higher fatal versus the omes who had not. The ealier correcting of these disturbances will help to improve the mortality. It should increase the early use of surfactants at the Department of neonatal rehabilitation to reduce the risks of internal membranous disorders.
Mortality
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Risk factors
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Infant, Low Birth Weight
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Premature Birth
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Infant, Premature
8.Use of progesterone as a preventive medicine and nifedipine as a treatment of preterm labor
Journal of the Korean Medical Association 2018;61(3):214-218
Preterm birth is a major cause of neonatal morbidity and mortality, and occurs in 5% to 15% of all pregnancies. Therefore, its prevention is a major opportunity to reduce medical costs and to promote public health in all countries. Preterm birth is a broad great obstetric syndrome that arises from a wide variety of causes. Although many therapeutic agents are used for premature labor, most of them have serious maternal side effects, and they are ineffective in cases when labor has already begun. Therefore, the authors would like to introduce progesterone, as a treatment to prevent preterm labor. We also investigated whether nifedipine, which is used to treat preterm labor, could prevent preterm labor. We are eager to find more effective and easier-to-use drugs to prevent preterm labor in the future.
Female
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Mortality
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Nifedipine
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Obstetric Labor, Premature
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Pregnancy
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Premature Birth
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Preventive Medicine
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Progesterone
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Public Health
9.Premature Deaths Attributable to Exposure to Ambient Fine Particulate Matter in the Republic of Korea: Implication for Future Environmental Health.
Journal of Korean Medical Science 2018;33(37):e243-
No abstract available.
Environmental Health*
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Mortality, Premature*
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Particulate Matter*
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Republic of Korea*
10.Early complications and treatment outcomes in test-tube premature infants.
Jing ZHANG ; Wei XU ; Chao-Ying YAN
Chinese Journal of Contemporary Pediatrics 2013;15(7):569-571
OBJECTIVETo study the incidence of early complications and treatment outcomes in premature infants conceived via test tube.
METHODSA retrospective analysis and comparison was conducted on the clinical data of 122 test-tube premature infants and 183 naturally conceived premature infants (control group), including maternal complications, birth conditions and early complications.
RESULTSThere was no statistically significant difference in maternal complications between the two groups (P > 0.05). The incidence of respiratory distress syndrome (25.4% vs 12.0%; P < 0.05) and malformations (3.3% vs 0%; P < 0.05) in the test-tube group was statistically higher than in the control group. The mortality rate in the test-tube group was statistically higher than in the control group (9.0% vs 2.2%; P < 0.05).
CONCLUSIONSTest-tube premature infants are more likely to suffer from respiratory distress syndrome and have higher incidences of congenital malformations and mortality. Asisted reproductive technique should therefore be chosen cautiously, and enhanced assessment and monitoring is needed during pregnancy.
Fertilization in Vitro ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases ; mortality ; therapy ; Respiratory Distress Syndrome, Newborn ; mortality ; Retrospective Studies