Kaohsiung J Med Sci
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Kaohsiung J Med Sci · Jul 2003
Case ReportsAlström syndrome with acute pancreatitis: a case report.
We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing impairment, diabetes mellitus, and hypertriglyceridemia, compatible with the clinical diagnosis of Alström syndrome. ⋯ It is also a challenge to treat a patient with multiple system involvement. In conclusion, Alström syndrome is a disease of systemic multi-organ involvement, and hepatic disease and pancreatitis, possibly due to dyslipidemia, appear to be manifestations of Alström syndrome.
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Kaohsiung J Med Sci · Nov 2002
Case ReportsDKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.
Dyskeratosis congenita (DKC) is a rare inherited disease characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. Recent studies demonstrated mutations in the DKC1 gene encoding a protein named dyskerin, which is a component of human telomerase. In addition to the hypothesized function of pseudouridination in rRNA biosynthesis, ribosomal subunit assembly, and/or centromere/ microtubule binding, lower levels of telomerase activity in cells from patients with X-linked DKC have been observed. ⋯ He died of enterocolitis and Escherichia coli sepsis at the age of 20 years. Only his mother's DNA was available for mutation analysis, which revealed a nucleotide transition of C to T (1058 C --> T), a hotspot mutation in DKC, resulting in an amino acid change from alanine to valine (A353V) in the DKC1 gene. Recent advances in the research of telomerase and its implications in the human aging process and cancer are discussed.
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Kaohsiung J Med Sci · Jul 2002
Case ReportsTraumatic cardiac injury following sternal fracture: a case report and literature review.
Myocardial injury used to be thought as one of the major complications associated with sternal fracture even though recent studies on injuries associated with fracture of sternum are contrary to this belief. Many authors now believe the presence of sternal fracture is no longer indicative of occult injuries to the underlying structure such as the heart. However, clinicians should still maintain a high index of suspicion for the presence cardiac tamponade in cases presented as blunt chest trauma as early diagnosis and surgical intervention is vital to the patient's survival. ⋯ A diagnosis of cardiac rupture resulting from sternal fracture following blunt chest trauma was made. Under midline sternotomy, her right atrial rupture was repaired. The patient was reported to be doing well during a three months, post-operative follow-up.
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Kaohsiung J Med Sci · Feb 2002
Case ReportsBilateral traumatic testicular dislocation--a case report.
Traumatic testicular dislocation is a rare complication of blunt scrotal trauma. It is usually related to straddle injuries from motorcycle accidents and is commonly accompanied by scrotal hematoma and pelvic fracture. Bilateral dislocation of the testes is relatively rare. ⋯ After appropriate physical examination and image study, emergent surgical reduction should be considered because of the high incidence of failure of closed reduction. We recommend that emergency physicians should be aware of potential testicular injury among trauma cases. Early reduction and early urological consultation are also recommended because of histological changes seen in dislocated testis.
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Kaohsiung J Med Sci · Feb 2002
Analysis of factors associated with successful cardiopulmonary resuscitation in non-traumatic dead-on-arrival patients in emergency department.
Out-of-hospital cardiopulmonary arrest has a dismal prognosis. Successful resuscitation of these patients depends on the "chain of survival". In Taiwan, the emergency medical services (EMS) system is under development and the links of "chain of survival" are weak and frequently broken. ⋯ There were no significant differences in age, sex, vehicle of transportation, administration of prehospital CPR or not, EMS response interval, on-scene duration, and scene-to-hospital interval between patients with ROSC and without ROSC. Compared with asystole cardiac rhythm, patients with pulseless electrical activity (PEA) had a higher successful resuscitation rate (p = 0.001), but no significant differences existed between patients with ventricular fibrillation/ventricular tachycardia (VF/VT) and PEA or VF/VT and asystole. However, there were no significant differences in the survival discharge rate among patients with different initial cardiac rhythms in ED.