Journal of Korean medical science
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J. Korean Med. Sci. · Nov 2013
Case ReportsAn unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.
A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM). After conservative care with hydration and insulin supply, metabolic impairment was improved. ⋯ The mutation (c.6443T>G) of the NOTCH2 gene was found. The patient was diagnosed with HCS and DM. There may be a relationship between HCS and DM, with development of pancreatic symptoms related to the NOTCH2 gene mutation.
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J. Korean Med. Sci. · Nov 2013
Post-progression survival in patients with non-small cell lung cancer with clinically acquired resistance to gefitinib.
Most patients with tyrosine kinase inhibitor (TKI)-sensitive non-small cell lung cancer (NSCLC) eventually develop acquired resistance to TKIs. Factors that affect TKI-sensitive patient survival after progression during TKI treatment remain unknown. We attempted to identify factors that affected post-progression survival. ⋯ Gefitinib reuse tended to lengthen PPS but was insignificant in multivariate analysis (27.4 vs 8.8 months; HR, 0.53; P = 0.095). NSCLC patients assumed to have clinically acquired resistance to TKIs had relatively long PPS. TKIs reuse or pemetrexed use after progression with gefitinib may improve PPS.
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J. Korean Med. Sci. · Nov 2013
Review Comparative StudyTrends of breastfeeding rate in Korea (1994-2012): comparison with OECD and other countries.
Breastfeeding has numerous benefits both for infants and mothers. WHO, UNICEF, and OECD report the breastfeeding rate (BR) and exclusive breastfeeding rate (EBR) at 3, 4, and 6 months of age for the international comparison. This article investigates the nationwide changes in BR and EBR in Korea from 1994 to 2012. ⋯ Amongst OECD countries, Hungary ranked highest EBRwith 95%, and Iceland, Norway, Slovak Republic, Australia, New Zealand followed. In conclusion, BRs were lowest in 2000, and there have been remarkable increases in BRs over the past 10 yr in Korea. Although BRs have been increasing, further efforts to increase BRs should be made continuously.
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J. Korean Med. Sci. · Nov 2013
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.
Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. ⋯ In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency.
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J. Korean Med. Sci. · Nov 2013
Striatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism.
Sporadic spastic paraplegia (SSP) and hereditary spastic paraplegia (HSP) belong to a clinical and genetically heterogeneous group of disorders characterized by progressive spasticity and weakness in the lower extremities. The symptoms are associated with pyramidal tract dysfunction and degeneration of the corticospinal tracts. Parkinsonism is uncommon in SSP/HSP patients. ⋯ Among the four patients with reduced uptake, two had parkinsonism, and one exhibited periodic limb movements and restless leg syndrome. Our DAT SPECT imaging study shows that reduced DAT density may be observed in patients with parkinsonism. The results of the present study offer an explanation for the spectrum of spastic paraplegia symptoms and the progression of the disorder.