• Title/Summary/Keyword: Late-onset

Search Result 257, Processing Time 0.033 seconds

A case of familial X-linked thrombocytopenia with a novel WAS gene mutation

  • Lee, Eu Kyoung;Eem, Yeun-Joo;Chung, Nack-Gyun;Kim, Myung Shin;Jeong, Dae Chul
    • Clinical and Experimental Pediatrics
    • /
    • v.56 no.6
    • /
    • pp.265-268
    • /
    • 2013
  • Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs$^*21$) as a hemizygous form.

Effect of Phytoecdysteroid on Pure Breed Performance of Silkworm Bombyx mori L.

  • Trivedy, Kanika;Dhar, Anindita;Kumar, S.Nirmal;Nair, K.Sashindran;Ramesh, M.;Gopal, Nisha
    • International Journal of Industrial Entomology and Biomaterials
    • /
    • v.7 no.1
    • /
    • pp.29-36
    • /
    • 2003
  • Phytoecdysteroids with moulting hormone (MH) activity induce different responses in silkworms when used on different day of final instar, which can be manipulated for maximum benefit like early and uniform spinning behaviour, reducing crop loss and to increase cocoon yield. The results showed that application of this hormone on seed crop viz., CSR2, CSR4 and BL44 and BL67 in early stage of 5$^{th}$ instar i.e., at 72 hrs and 96 hrs though induced early and uniform spinning behaviour, there was an adverse effect by 9-36% on the economic characters like cocoon yield, cocoon weight, cocoon shell weight and also on fecundity etc. Application of this hormone in late stage of $5^th$ instar i.e., at the onset of spinning showed non-significant variations in some of the characters like cocoon weight, cocoon shell weight, cocoon shell ratio and fecundity. The physiological implications of phytoecdysteroid in hastening the maturation events and synchronization of spinning activities in different breeds are discussed.

Stroke and Sleep (뇌졸중과 수면)

  • Jeong, Seung-Cheol
    • Sleep Medicine and Psychophysiology
    • /
    • v.9 no.1
    • /
    • pp.5-8
    • /
    • 2002
  • Stroke is a leading cause of death in most developed countries and some developing countries including South Korea. It is well known that stroke has is related in some way with several sleep disorders. At first, the onset time of stroke varies according to circadian rhythm. Early morning is the most prevalent time and late evening the least. The changes of blood pressure, catecholamine level, plasminogen activity and aggregation of platelet during sleep have been suggested as possible mechanisms. Sleep apnea (SA), a representative disorder in the field of sleep medicine, is found in more than 70% of acute stroke patients compared to 2-5% of the general population. Various sleep related breathing disorders occur after stroke and snoring is a distinct risk factor for stroke. So the relationship between stroke and SA is obvious, but the cause and effect are still not clearly known. Also, stroke may cause many sleep related problems such as insomnia, hypersomnia, parasomnia and changes in sleep architecture. Patients, family members and even medical personnel often ignore stroke-related sleep problems, being concerned only about the stroke itself. The clinical impacts of sleep problems in stroke patients may be significant not only in terms of quality of life but also as a risk factor or prognostic factor for stroke. More attention should be paid to the sleep problems of stroke patients.

  • PDF

A Case of Bartter Syndrome with Muscle Weakness and Short Stature (근무력증과 왜소증을 동반한 Bartter syndrome 1례)

  • Kim In-Sung;Kang Ju-Hyung;Shin Yun-Hei;Lee Dong-Kuk;Kim Soon-Nam;Pai Ki-Soo
    • Childhood Kidney Diseases
    • /
    • v.6 no.2
    • /
    • pp.259-265
    • /
    • 2002
  • Bartter syndrome is a rare disorder characterized by the association of hypokalemic hypochloremic metabolic alkalosis, hyperreninemia, hyperaldosteronemia, short stature and nephrocalcinosis. This disorder presents with hyperplasia of juxtaglomerular apparatus on renal biopsy. We experienced a case of late-onset Bartter syndrome with nephrocalcinosis in a 9-year-old boy, whose chief pictures were muscle weakness, short stature, persistent sterile pyuria and microscopic hematuria. We report this case with a brief review of related literatures.

  • PDF

Lame Disease (라임병에 관하여)

  • Shin, Sang-Won;Park, Seung-Chull
    • Journal of agricultural medicine and community health
    • /
    • v.16 no.2
    • /
    • pp.172-176
    • /
    • 1991
  • Lyme disease, or Lyme borreliosis. is an infection caused by spirohete Borrellia burgdorferi. This disease was recognized in Lyme, Conneticut U.S.A. in 1975. The onset of the disease is usually heralded by the appearance of a pathognomic skin lesion, known as erythema chronicum migrans, and accompanied by flue like or meningitis like symptoms. Unless treatment is initiated early, the disease usually disseminated, often resulting carduac, neurologic, or joint manifestations. All stages of the disease are usually curable by appropriate antibiotic therapy, and can prevent severe late cardiac, neurologic, and joint complications. Lyme disease is typically defined by clinical evidence supported by serologic test. The diagnosis require serologic confirmantion of erythema chronicum migrans, occurring in patient in nonendemic countries. Determination of antibody titer against B. burgdorferi by enzyme linked immunosorbent assay(ELISA) currently the most practical diagnostic test. Currently Lyme disease occurs in U.S.A. Europe, and Australia. It has recently recognized in China, Japan, and Soviet Union also. In United States, Lyme disease is most common vector borne infection. There is no reported case of patients with this disease in Korea. But the vector of this disease, -Ixodes ticks- had been identified in Korea. And Korea is geographically closely related to China and Japan where Lyme disease is already reported. We expect first case of Lyme disease could he reported in near future. We review the clinical manifestations and diagnostic method of Lyme disease.

  • PDF

High-dose caspofungin salvage in a very-low-birth-weight infant with refractory candidemia (극소 저체중 출생아의 난치성 칸디다혈증에서 고용량 Caspofungin 구제요법)

  • Seo, Eun Sun;Park, Geun Hwa;Kim, Sung Mi;Jung, Hye An;Kim, Byoung Kuk
    • Clinical and Experimental Pediatrics
    • /
    • v.53 no.2
    • /
    • pp.239-243
    • /
    • 2010
  • Candidiasis is one of the most common causes of late-onset infection among very-low-birth-weight infants (VLBW) in most neonatal intensive care units and is associated with significant morbidity and mortality. Standard therapy consists of the administration of amphotericin B, amphotericin B complex, and fluconazole. In many cases, candidiasis is not easily eradicated, despite the administration of these drugs. We report our experience of the addition of high-dose caspofungin to the conventional antifungal drugs in a VLBW infant with refractory candidemia.

Cyst Size in Fetuses with Biliary Cystic Malformation: An Exploration of the Etiology of Congenital Biliary Dilatation

  • Hattori, Kengo;Hamada, Yoshinori;Sato, Masahito
    • Pediatric Gastroenterology, Hepatology & Nutrition
    • /
    • v.23 no.6
    • /
    • pp.531-538
    • /
    • 2020
  • Purpose: Our aim was the longitudinal assessment of cyst size in fetuses with biliary cystic malformation (BCM) to explore its etiology and the possibility of antenatal differentiation between biliary atresia (BA) and congenital biliary dilatation (CBD). Methods: We conducted a retrospective review of all patients diagnosed antenatally with BCM from 1994 to 2014 at our institutions. Results: The study cohort comprised of three patients with BA and six with CBD. There were no significant differences in the gestational age and cyst size at the first detection of BCM between the two groups. In fetuses with CBD, the cyst size steadily increased as the gestational age advanced, while it fluctuated around 1.5 cm and remained below 2.1 cm in those with BA. However, the ratio of cystic area to fetal trunk area was approximately constant due to linear fetal growth in fetuses with CBD. Conclusion: Fetuses with BCM <2.1 cm in the late gestation period were more likely to have BA than CBD. Our observation of cyst enlargement with advancing gestational age in the CBD group was attributed solely to fetal growth. Biliary dilatation in fetuses with CBD and BA might be completed at the onset of BCM.

Short-term Treatment of Daumone Improves Hepatic Inflammation in Aged Mice

  • Park, Jong Hee;Ha, Hunjoo
    • The Korean Journal of Physiology and Pharmacology
    • /
    • v.19 no.3
    • /
    • pp.269-274
    • /
    • 2015
  • Chronic inflammation has been proposed as one of the main molecular mechanisms of aging and age-related diseases. Although evidence in humans is limited, short-term calorie restriction (CR) has been shown to have anti-inflammatory effects in aged experimental animals. We reported on the long-term treatment of daumone, a synthetic pheromone secreted by Caenorhabditis elegans in an energy deficient environment, extends the life-span and attenuates liver injury in aged mice. The present study examined whether late onset short-term treatment of daumone exerts anti-inflammatory effects in the livers of aged mice. Daumone was administered orally at doses of 2 or 20 mg/kg/day for 5 weeks to 24-month-old male C57BL/6J mice. Increased liver macrophage infiltration and gene expression of proinflammatory cytokines in aged mice were significantly attenuated by daumone treatment, suggesting that short-term oral administration of daumone may have hepatoprotective effects. Daumone also dose-dependently suppressed tumor necrosis factor-${\alpha}$ (TNF-${\alpha}$ )-induced nuclear factor-${\kappa}B$ (NF-${\kappa}B$) phosphorylation in HepG2 cells. The present data demonstrated that short-term treatment of daumone has anti-inflammatory effects in aged mouse livers possibly through suppression of NF-${\kappa}B$ signaling and suggest that daumone may become a lead compound targeting aging and age-associated diseases.

A Study on aquatic products and fishery administration in china (중국의 수산물 생산과 어정관리에 관한 연구)

  • 고재모
    • The Journal of Fisheries Business Administration
    • /
    • v.30 no.1
    • /
    • pp.77-96
    • /
    • 1999
  • Since the onset of its economic reform and the open door policy in the late 1970s, China's overall economic growth rate has been continuing about 10% per year. The marine sector is not allowed exception, aquatic products increased sharply from 4.66 million MT in 1978 to 36.02 million MT in 1997, and then China is remained the largest producing country in the world aquatic market and her role would be expanded. Korea having a common boundaries to China is subjected unescapably both in domestic and export markets by the influence of the remarkable growth of China's aquatic products. If China were admitted entrance of WTO(World Trade Organization)in the near future, her influence is getting more serious. Well, we are necessary to understand the characteristics of China's aquatic products and to review fishery policies implemented by the China government. This paper is organized into two major parts, the one includes the structural changes of aquatic products, fishing and cultivating in the coast, latent and estimated production in China, and the other includes the main contents of fishery policies and measures of government administration. A characteristic of China's aquatic products is that cultivated production, especially, shellfish outputs continues to rapid increase. The major means of administration are an execution of fishing license system and setting up no-fishing zone and closed season for fishery. China is no longer a marginal player in international economic and world aquatic market. So, we will not only understand China's aquatic conditions and problems, but will also see the usefulness in continuing the cooperative relationship for a long time to come.

  • PDF

The Epidemiologic Pattern of Tsutsugamushi Epidemic in Chollanamdo Province in 1991 (1991년 전남지방의 쭈쭈가무시병 유행에 관한 연구)

  • Han, Kwang-Il;Moon, Gang;Choi, Jin-Su
    • Journal of agricultural medicine and community health
    • /
    • v.17 no.2
    • /
    • pp.93-102
    • /
    • 1992
  • The epidemic of tsutsugamushi disease, along with hemorrhagic fever with renal syndrome(HFRS) and leptospirosis, has been ingrowing concern as it occupies a considerable proportion of the so-called seasonal febrile illnesses in autumn in Korea. This study was conducted to describe certain epidemiologic characteristics of the reported cases of the tsutsugamushi epidemic in Chollanamdo province in 1991. The findings could be summarized as follows: 1. Among three seasonal febrile illnesses in Autumn, tsutsugamushi disease occupied 91.9 percent of whole serologically confirmed cases. 2. Male-female sex ratio was 1 : 1.8. Majority of cases (77.4% in men, 65.1% in female) were in older age group (>=50 year of age). 3. Date of disease onset were distributed between late September and November. The 67.4% of cases were developed from October 21 to November 10, 1991. 4. The 41.5% of cases were reported from southern maritime districts. Reported dates of index cases and median cases were earliest in inland districts followed by southern maritime and latest in western maritime districts. 5. Most frequently reported clinical symptoms were chill (100%), high fever (100%), headache (81.7%), and skin eruption (70.4%).

  • PDF