Donor site morbidities resulting from conchal cartilage harvesting in rhinoplasty.

OBJECTIVE: Conchal cartilage is frequently used in rhinoplasty, but donor site morbidity data are seldom reported. This study aimed to investigate the complications of conchal cartilage harvesting in rhinoplasty. METHODS: A retrospective chart review of 372 patients who underwent conchal cartilage harvesting for rhinoplasty was conducted. Data regarding patient demographics, types of nasal deformities, graft usage and complications were analysed. RESULTS: A total of 372 patients who underwent conchal cartilage harvesting for rhinoplasty were enrolled. The harvested conchal cartilage tissues were used in a variety of applications: tip graft, dorsal graft, septal reinforcement and correction of nostril asymmetry. Nine cases (2.4 per cent) with donor site morbidities were identified, including four cases (1.1 per cent) with keloids and five cases (1.3 per cent) with haematomas. CONCLUSION: Conchal cartilage harvesting is a safe and useful technique for rhinoplasty, with a low complication rate. However, patients should be informed about the possibility of donor site morbidities such as keloids and haematomas.

Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.

BACKGROUND AND PURPOSE: Spastic paraplegia type 5 (SPG5) is an autosomal recessive (AR) hereditary spastic paraplegia (HSP) associated with pure or complicated phenotypes. This study aimed to screen SPG5 in Taiwanese HSP patients. METHODS: Sequencing of the SPG5 gene, CYP7B1, was performed in a cohort of 25 ethnic Han Taiwanese patients with AR or sporadic HSP. Clinical information and magnetic resonance imaging (MRI) were analyzed in confirmed SPG5 patients. RESULTS: One (33%) AR kindred and four (18%) sporadic cases had CYP7B1 mutations. All of the SPG5 cases carried the mutation c.334 C>T (R112X). Haplotype analysis suggested a 'founder effect' in ethnic Hans for this mutation. The phenotype was either pure or complicated by cerebellar ataxia. For the primary HSP phenotype, there were profound dorsal column sensory deficits in all patients. Spine MRI showed thoraco-lumbar cord atrophy in some patients. CONCLUSIONS: Spastic paraplegia type 5 is a common cause of AR and sporadic HSPs that has a higher frequency in Taiwanese than in other ethnic groups. It is associated with a CYP7B1 founder mutation and its phenotype is characterized by pronounced dorsal column sensory loss, with cerebellar ataxia in some patients.

Allergic rhinitis and risk of erectile dysfunction--a nationwide population-based study.

BACKGROUND: A growing body of evidence has disclosed that allergic rhinitis (AR) is a systemic inflammatory disease. Inflammatory mediators and cells involved in AR have also been reported to be implicated in the process of atherosclerosis, which is relevant to the occurrence of erectile dysfunction (ED). Our objective was to explore the relationship between AR and future ED events. METHODS: From 1 January 2000 to 31 December 2008, we identified male patients, who were aged 18-55 years and newly diagnosed with AR from the Taiwan National Health Insurance Research Database. A control cohort without AR, which was matched for age, comorbidities and medications, was selected for comparison. The two cohorts were followed up until 31 December 2009 and observed for occurrence of ED by registry of ED diagnosis in the database. RESULTS: Of the 128,118 sampled male patients (64,059 AR patients vs 64,059 matched controls), 1455 (1.16%) experienced ED during a mean follow-up period of 5.82 years, including 844 (1.32% of the AR patients) from the AR cohort and 611 (0.95%) from the controls. Kaplan-Meier analysis revealed a tendency of AR patients to develop ED (log-rank test, P < 0.001). After adjusting confounder variables by Cox regression, subjects with AR experienced a 1.37-fold (95% CI, 1.24-1.52; P < 0.001) increase in incident ED. The risk of ED was higher in cases with more frequent clinical visits for AR and in cases needing medication more than 4 weeks. CONCLUSIONS: Patients with AR appeared to be at higher risk of future ED, possibly in a severity-dependent manner.

Factors affecting the impact of olfactory loss on the quality of life and emotional coping ability.

BACKGROUND: Olfactory impaired patients have decreased quality of life and may need to develop a coping ability for the olfactory loss. This study investigated how factors like olfactory function, disease duration, etiology, age, and gender affect patients` quality of life and emotional ability to cope. METHODS: Four hundred and thirteen consecutive patients with the chief complaint of olfactory dysfunction were evaluated. The Questionnaire of Olfactory Disorders (QOD) included negative statements (QOD-NS) that indicated the impact on the quality of life, and positive statements (QOD-PS) reflecting the emotional coping ability. Relations between studied factors and QOD-NS or QOD-PS were analyzed. RESULTS: Poorer olfaction and younger age correlated with increased QOD-NS scores, whereas longer disease duration and older age correlated with increased QOD-PS scores. Females had poorer coping than males. QOD-PS scores were inversely related to QOD-NS scores. CONCLUSIONS: The impact of olfactory loss is more significantly felt by younger patients with poorer olfaction. Older patients or those with longer disease duration develop better emotional coping abilities so as to reduce the impact on quality of life. It may be helpful for the patients with olfactory loss to develop emotional coping as early as possible to decrease the olfactory impact.

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.

Lipid storage myopathies (LSMs) are characterized pathologically by the accumulation of lipid droplets in muscle fibers due to impaired cellular lipid metabolism. The purpose of this study was to determine etiologies and genetic mutations associated with LSMs in ethnic Han Taiwanese. The usefulness of the blood acylcarnitine (AC) profile for diagnosing LSMs in adult patients was also investigated. Nine patients were diagnosed with late-onset LSMs following a review of muscle biopsies and medical records and were recruited retrospectively. Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency. Blood AC levels were measured by tandem mass spectrometry. The mutation c.250G>A in ETFDH was detected in seven (78%) patients, six of whom were homozygous for the variant. Patients with ETFDH mutations had elevated blood levels of ACs ranging from C8 to C16 species, a pattern consistent with MADD. ETFDH c.250G>A mutation is common in Taiwanese patients with late-onset LSMs. The blood AC profile is a sensitive biochemical marker for diagnosing MADD arising from ETFDH mutations in adults.

Serotonin transporter gene promoter polymorphism is associated with body mass index and obesity in non-elderly stroke patients.

BACKGROUND: The serotonergic system is involved in the complex behavioral and physiological process in maintaining energy balance. Genetic factors regulating serotonergic function may have links with the development of obesity. AIM: To investigate whether the 5-HTTLPR polymorphism of the serotonin transporter gene is associated with body mass index (BMI) and obesity in stroke patients. SUBJECTS AND METHODS: The study included 376 patients (65.3+/-11.3 yr; male, 61.7%) with stroke. Associations between the 5-HTTLPR and BMI and obesity (BMI > or = 25 kg/m2) were examined in all subjects. In order to test age-dependent effects of the genetic variant, the association was also examined in the non-elderly subgroup (<65 yr) and the elderly subgroup (> or =65 yr) respectively. RESULTS: For non-elderly subjects, the SS genotype was independently associated with increased BMI level (beta=1.84, p=0.037) and obesity (odds ratio 4.17, 95% CI 1.25-14.0, p=0.021) when the LL genotype was used as the reference. The association was not found for all patients or in the elderly subgroup. The LS genotype was not different from the LL genotype in BMI level or risk of obesity, either for all subjects or with regard to the non-elderly and elderly subgroups. CONCLUSIONS: The SS genotype of 5-HTTLPR is an independent determinant of increased BMI level and obesity in non-elderly stroke patients but not in elderly patients. An age-dependent modification for the effect of the 5-HTTLPR on development of obesity is considered.

HMBS mutations in Chinese patients with acute intermittent porphyria.

Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by partial deficiency of hydroxymethylbilane synthase (HMBS) affecting heme biosynthesis. Patients with AIP are characterized by recurrent abdominal pain, port-wine urine, and motor paresis. The disease can be provoked by changes in hormone levels, drugs and fasting. Molecular analysis for twenty-four unrelated Chinese AIP patients from Taiwan identified twenty-five HMBS mutations. There were 10 missense (40%), four nonsense (16%), five frame-shift (20%) and six splice site (24%) mutations. More than a half (15/25, 60%) of these mutations are predicted to produce a truncated protein. Four (c.33 + 5C>A, Arg26Cys, Arg26His, Arg325X) occurred more than once among the 24 families and one individual carried two mutations in the same allele, a missense (Gly221Asp) and a splice site mutation (c.652-1G>A). Of the 25 mutations, eleven were novel (Arg149Pro, Gly218Arg, Asn322X, Gly221Asp, Pro313X, c.88-4_-16delAAGTCTCTACCCG, c.1008_1019delCAGCCTGGCCAA, c.113delT, c.88-4_-16delAAGTCTCTACCCGinsCA, c.160delA, c.902_909delTCCCTGCC). No correlation between genetic defect and phenotype (both clinical and biochemical) was observed in this study.

A perturbation of antithrombin-III and protein C coupling associates with an increase of anti-beta2-glycoprotein I antibody in non-antiphospholipid antibody syndrome cerebral ischemia.

Anti-beta -glycoprotein I antibody (abetaGPI) has been recognized in raising the risk of cerebral ischemia in patients with antiphospholipid antibody syndrome (APS), especially by protein C (PC) axis perturbation. Although a high potential is also seen in non-APS patients, the mechanism is substantially unknown. In the present study, we examined the effect of abetaGPI on PC and antithrombin-III (AT-III) activity in non-APS patients with non-cardiac cerebral ischemia (NCCI). A total of 111 NCCI patients and 30 healthy controls were enrolled. They were free of APS manifestation, and their anticardiolipin antibody and lupus anticoagulant tests were within normal range. There were 14.4% patients found to have an abnormal increase of blood abetaGPI. The PC, AT-III, albumin, aminotransferases, creatinine, prothrombin time and activated partial thromboplastin time did not differ between our patients and controls, or patients with or without increased abetaGPI. However, a marked decrease of the PC/AT-III ratio was found in patients with increased abetaGPI. The correlation between PC and AT-III activity was highly significant in patients with an increase of abetaGPI (P = 0.001), only marginal in controls (P = 0.042), and was insignificant in patients with a normal abetaGPI (P = 0.277). The abetaGPI did not correlate to PC or AT-III activity in either patients or controls. These findings suggest that high PC/AT-III coupling may relate to NCCI in non-APS patients associated with an increase of abetaGPI. This coupling effect seems not to be caused by abetaGPI directly.

An abnormal cholesterol profile in young adults with normocholesterolemic cerebral ischemia.

An abnormal cholesterol fraction can still be able to provoke cascades of lipidic atherogenesis even when the serum TC level is within normal range (< 200 mg%). However, there is a shortage of convincing data concerning cerebral atherogenesis in young Asians who have a different diet habit and living style from those in western countries. In this study, we examined the lipoprotein-cholesterol profile in young Taiwanese patients with noncardiac cerebral ischemia (NCCI) whose serum TC level was < 200 mg% and 200-250 mg%. The results showed a decrease of HDLC and an increase of VLDLC in patients with TC < 200 mg%, but only a decrease of HDLC in patients with TC = 200-250 mg%. The cholesterol fraction metabolism is obviously perplexed in NCCI subjects. These findings were not related to their associated risk factors. Accordingly, a derangement of cholesterol fraction with normal serum TC level can also incite lipidic cerebral atherogenesis in young Taiwanese adults. Therefore, a detailed evaluation of cholesterol profile should be born in mind in young eastern NCCI patients despite of a normal serum TC level. Tailored measure of diet and living should be modified to prevent lipidic atherogenesis in our society in future.

Transtentorial cerebellar c-jun expression after focal cerebral cortical injury in mice.

Delayed and remote effect of focal cerebral cortical lesion on cerebellum remains unclear. The c-Jun, an inducible transcription factor of cellular immediate early gene, is the predominant transcription factor and consistent marker for neurons that respond to stress or injury. We use a mouse cryogenic injury model to study the spatial and temporal changes of c-jun in the cerebellum after focal neocortical lesion. A transient and moderate expression of c-jun mRNA was found in the cerebellum with central dominance since 3 day postinjury and gradually subsided within 2 weeks. A distinct increment of c-Jun protein expression in Purkinje cells of the bilateral cerebellar hemispheres with focal connotation in the vermis was detected since 1 week postinjury. These findings suggest that the delayed and remote c-jun expression of the cerebellum, functionally connected with the cerebral cortex, indicate transneuronal gene activation.

Intracranial fatigable ptosis.

Two patients sought treatment for bilateral fatigable ptosis; one patient had a hematoma, and the other patient had an intracranial metastasis. Compression of the central caudal nucleus in the dorsal midbrain is proposed as the cause of this ptosis, and an alteration of central acetylcholine neurotransmission may contribute to ocular fatigability. Because symptoms that suggest fatigable ptosis can be similar to those that suggest ocular myasthenia gravis, a careful evaluation is necessary to avoid misinterpretation.

Antiplatelet drugs induce apoptosis in cultured cancer cells.

In order to understand if antiplatelet drugs possess direct antineoplastic property, we tested the apoptotic effect of 5 popularly marketed antiplatelet drugs in Taiwan in 6 cultured cancer cell lines (Hep 3B hepatocarcinoma, U87-MG malignant glioma, PC-3 prostate adenocarcinoma, HeLa cervical adenocarcinoma, HL-60 preleukemia and K-562 chronic myelogenous leukemia). While acetylsalicylate and flunarizine exerted no effect on these cancer cells, pentoxifyline (PTX), dipyridamole (DYA) and ticlopidine hydrochloride (T. HCl) displayed a time and dose-dependent apoptotic effect on them except for HL-60 and K-562 cells. PTX induced apoptosis in U87-MG, Hep 3B and HeLa cells, DYA in HeLa cells, while T. HCl in U87-MG, Hep 3B, PC-3 and HeLa cells. Adriamycin also provoked apoptotic effect in all 6 cell lines but neither PTX, DYA nor T. HCl acted synergy with adriamycin to HeLa cells, implicating that they may share a similar pathway for inducing apoptosis. Therefore, our results show that the antiplatelet drugs do possess antineoplastic property in vitro. A co-administration of antiplatelet drugs is noteworthy for an alternative adjunctive therapy in cancer patients.

Reflex rhinorrhea after a right caudate infarct.

After a right caudate infarct, a 57-year-old man developed a left reflex rhinorrhea induced by gustation. Since data from the blink reflex and facial electrodiagnosis were normal, a disinhibitory response from caudate nucleus to superior salivatory nucleus is proposed.

Bilateral cheiro-oral syndrome.

Eight cases of pure bilateral cheiro-oral syndrome (COS) are reported. The location and etiology of lesion were well defined in six cases, including pontine infarct in three, and brainstem hemorrhage, unilateral thalamic infarct and bilateral subdural hematoma in one patient each respectively. Neuroimaging and neurophysiological studies were normal in another two patients. Taken together with the previous five reported cases of bilateral COS, pons is the most frequent site for presentation even in the absence of associated brainstem signs.

Fibromuscular dysplasia associated with intracranial giant aneurysm: report of a case.

Although the correlation between fibromuscular dysplasia (FMD) and intracranial aneurysm is well established, the combination of FMD with a giant aneurysm is rare. This paper reports a patient with extracranial FMD associated with a giant intracavernous aneurysm compromising the trigeminal and abducens nerve. A review of the literature uncovered only four documented cases of FMD with concurrent giant intracranial aneurysms. The present case adds further weight to the argument for including FMD in the differential diagnosis list when confronted with a patient with a giant intracranial aneurysm. Absence of adequate collaterals in this patient eliminated ligation as a treatment strategy for the aneurysm.