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Chin-Chang Huang

Publications and source records attributed to Chin-Chang Huang.

At least 19 recordsLinked to original sources
PubMed2007

Short-term thallium intoxication: dermatological findings correlated with thallium concentration.

BACKGROUND: The dermatological features and skin biopsy findings of short-term thallium intoxication have been described. However, the correlation between the dermatological findings and the thallium concentration, the prognosis of peripheral neuropathy, and a cutaneous nerve biopsy study are lacking. OBSERVATIONS: Two patients initially developed perioral numbness, erythematous facial rashes, and polyneuropathy after ingesting thallium-containing water. Severe diffuse alopecia was noted, and a skin biopsy specimen revealed parakeratosis and vacuolar degeneration of the basal layer. Examinations of the hair mount demonstrated a tapered appearance of the anagen root. A serial cutaneous nerve biopsy study showed a loss of epidermal nerves 7 weeks and even 1 year after the thallium intoxication. A toxicology survey disclosed a high concentration of thallium (about 3124 mg/L) in the water. The clinical dermatological features subsided completely, but polyneuropathy with severe painful feet persisted. The blood and daily urinary thallium concentrations decreased slowly in the following 3-month period. CONCLUSIONS: The clinical dermatological features subsided completely, but painful polyneuropathy persisted. The series cutaneous nerve biopsy specimens showed persistent damage to the sensory nerve endings. The disappearance of the dermatological features and the appearance of Mees lines correlated with the decrease of blood and urinary thallium concentrations.

Alopecia↗
PubMed2006

Carbon disulfide encephalopathy: cerebral microangiopathy.

To understand cerebral blood circulation after long-term exposure to carbon disulfide (CS2), four patients with encephalopathy and polyneuropathy, who had worked in a viscose rayon plant, were studied. Clinical and laboratory examinations, including brain magnetic resonance images (MRI), computed tomography (CT), CT perfusion, and CT angiography, were carried out. Brain CT and MRI disclosed mild cortical atrophy in all four patients, and multiple lesions in the subcortical white matter, and basal ganglia in three patients. Brain CT angiography and perfusion revealed a statistically significant decrease of cerebral blood flow (CBF) in the total brain parenchyma and basal ganglia, and a decrease of the cerebral blood volume (CBV) in the basal ganglia and a prolonged mean transit time (MTT) in the total brain parenchyma, and the territories of the internal carotid artery (ICA), basal ganglia and occipital lobe. In conclusion, the decrease of CBV and CBF, and the prolonged MTT in the total brain parenchyma, ICA, basal ganglia and occipital lobes, indicated a microangiopathy in patients with CS2 encephalopathy.

Atrophy↗
PubMed2006

Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.

OBJECTIVES: Studies of distal myopathy with rimmed vacuoles (DMRV) revealed that most patients had mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. However, the correlation between GNE mutations and clinical features was not fully understood. PURPOSES: To report the correlation between the clinical features and genetic analysis of DMRV patients. PATIENTS AND METHODS: The clinical presentations, histopathological findings, image studies, and genetic analyses of two patients with DMRV from a Taiwanese family were studied. RESULTS: Two compound heterozygous mutations, Ile 241 Ser and Arg 246 Gln, located in the epimerase domain, were identified in both patients, who were of the same generation. In addition, the elder sister showed a progressive muscular dystrophy course with severe quadriceps and trunk muscle involvement. CONCLUSION: The compound heterozygous mutations in the epimerase domain of the GNE gene are important in the severe phenotype of DMRV. However, the mechanisms leading to this phenotypic heterogeneity still remain to be elucidated.

Adult↗
PubMed2006

Axonal polyneuropathy after acute dimethylamine borane intoxication.

OBJECTIVE: To study a patient with axonal polyneuropathy due to acute dimethylamine borane (DMAB) intoxication. PATIENT: Confusion and drowsiness in the acute stage, followed by cognitive impairments and polyneuropathy, are reported in a chemical factory worker after acute exposure to DMAB. RESULTS: Nerve conduction studies indicated axonal polyneuropathy, particularly in the motor nerves. Sural nerve biopsy studies 3 months later revealed an axonal degeneration with a mild decrease of fiber density in the large myelinated fibers. Quantitative sensory testing also disclosed an impairment of pinprick, temperature, and touch sensations. Cutaneous nerve biopsy studies 9 months later demonstrated a moderate loss of epidermal nerves. During the follow-up period of 1.5 years, the clinical features and serial nerve conduction studies showed a steady improvement. CONCLUSIONS: Since DMAB is a new product and has been widely used recently in the manufacturing of semiconductors and electronics, we conclude that DMAB intoxication may produce motor-predominant axonal polyneuropathy and that the establishment of a threshold limit value is warranted.

Acute Disease↗
PubMed2006

Congenital myotonic dystrophy: variability in muscle involvement and histopathological process.

In order to understand the involvement of specific muscles in congenital myotonic dystrophy type 1 (DM1), we studied the clinical manifestations, and the genetic effects on various tissues in 2 siblings with congenital DM1. The distal leg muscles were more severely involved than the thigh muscles, as seen in the skeletal muscle magnetic resonance imaging. Molecular genetic analysis of the myotonic dystrophy type 1 protein kinase showed an elongation of the CTG triplet repeats between 850 and 1400 in the leukocytes, skin, fat, tendon, and muscles. Muscle biopsies showed a significant difference in the fiber type distribution between these two congenital DM1 patients. One revealed a prominent involvement of the tibialis anterior muscle with a predominance of type 1 fibers, similar to those muscle fiber distributions in older congenital or classic DM1 patients, suggesting a neurotrophic influence during muscle development. Another revealed a predominance of type 2 fibers in all muscle specimens, and dystrophic changes were observed in the peroneus longus muscle indicating a delayed differentiation or maturation of muscle fibers. We conclude that despite nearly the same number of CTG repeats in the leukocytes, highly individual variability of muscle differentiation may occur at teenagers of congenital DM1 in addition to different pathological findings in various skeletal muscles of patients with congenital DM1.

Adolescent↗
PubMed2006

Visual association memory test in differentiating early stage of Alzheimer's disease from vascular dementia.

We studied the results of the Visual Association Memory Test (VAMT) in differentiating Alzheimer's disease (AD) and vascular dementia (VaD). In addition, other basic neuropsychological tests, including the Mini-Mental State Examination (MMSE) and the Clinical Dementia Rating (CDR) were also used. Generally, with the VAMT, AD patients had a worse performance than VaD patients. Particularly among patients with a CDR = 0.5, the AD patients had statistically significantly lower VAMT scores (score less than 3) (p = 0.026) compared to those of VaD patients. However, the VAMT could not predict clinical severity or disease progression. The VAMT, as revealed in this study, is a brief, simply administered, and less biased test, and may offer a diagnostic adjunct to differentiate AD from VaD especially in an early dementia state.

Aged↗
PubMed2005

Central nervous system effects in acute thallium poisoning.

We report the central nervous system manifestations, neuropsychological studies and brain magnetic resonance image (MRI) findings of two patients with acute thallium intoxication. Neurologically the patients suffered from confusion, disorientation, and hallucination in the acute stage, followed by anxiety, depression, lack of attention, and memory impairment, in addition to peripheral neuropathy. Neuropsychological tests revealed an impairment of memory function, including reversed digital span, memory registration, memory recall, memory recognition, similarity, proverb reasoning, and verbal fluency. High concentrations of thallium were found in the urine, blood, and drinking water of these two patients. Brain MRI showed lesions in the corpus striatum in one patient. During the follow-up periods, the clinical manifestations and neuropsychological studies showed a slowly progressive improvement, and a follow-up brain MRI 1.5 months later demonstrated a resolution of the lesions. We conclude that thallium intoxication might induce encephalopathy, and brain MRI studies demonstrated the acute-stage brain lesions in a severe intoxicated patient. In addition, neuropsychological tests also confirmed memory deficits, although the brain lesions in the corpus striatum might resolve.

Antidotes↗
PubMed2005

Brain magnetic resonance image changes in a family with congenital and classic myotonic dystrophy.

We present the clinical manifestations, brain magnetic resonance images (MRI), and genetic analysis of a family with 2 siblings with congenital myotonic dystrophy type 1 (DM1) and 4 patients with classic DM1. These 2 patients with congenital DM1 had severe mental retardation and a characteristic feature of hyperintensity of white matter at the posterior-superior trigone (HWMPST), in addition to ventricular dilatation in T2-weighted images (T2WI) of brain MRI. In 2 of the 4 classic DM1 patients, brain T2WI MRI showed hyperintensity lesions in the bilateral frontal and/or temporal regions, which were absent in congenital DM1. In conclusion, we suggest that the HWMPST in brain MRI is a characteristic finding in congenital DM1, and that the severe cognitive impairments are not only attributable to the subcortical white matter lesions. In congenital DM1, the cognitive function is a diffuse impairment, which is different from that in classic DM1.

Adolescent↗
PubMed2005

Hereditary neuropathy with liability to pressure palsies: a clinical and genetic study of a Taiwanese family.

Hereditary neuropathy with liability to pressure palsies (HNPP), an autosomal dominant disorder, is characterized by recurrent isolated nerve palsies, which are precipitated by trivial compression or trauma. In this report, we present the clinical features, electrophysiological studies, nerve biopsy results, and molecular analyses of a Taiwanese family. Among the 7 members evaluated, one latent and three symptomatic patients were found who showed a heterogeneous presentation from asymptomatic to characteristically recurrent peripheral neuropathy. Electrophysiological studies revealed a general decrease in nerve conduction velocities in all four patients with focal conduction slowing, especially at the compression sites. A sural nerve biopsy with a teased fiber preparation in the index patient demonstrated a typical tomaculous appearance. Molecular genetic studies exhibited a deletion of the PMP22 gene in chromosome 17p11.2-12 in all 4 patients. In conclusion, the diagnosis of HNPP might be overlooked if based on clinical presentation only. Family survey and electrophysiological and genetic tests should be done to investigate this disorder.

Adult↗
PubMed2005

Myotonic dystrophies.

Myotonic dystrophies or dystrophia myotonica (DM) is a clinical syndrome that includes myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), myotonic dystrophy type 3 (DM3), and so forth. The terminology was recommended by the new nomenclature for myotonic dystrophies of an International Panel for Consensus. Previous studies have shown that DM1 is caused by the expansion of a cytosine-thymine-guanine (CTG) repeat in the DM protein kinase gene on chromosome 19, and DM2 is caused by an expansion of a cytosine-cytosine-thymine-guanine (CCTG) repeat in the zinc finger protein 9 (ZNF9) gene on chromosome 3. Because DM1 and DM2 have very similar clinical presentations, the diagnosis of these two disorders needs to be confirmed by molecular genetic analysis. Recently, DM3 was reported to include a multisystem myotonic disorder with frontotemporal dementia, and a linkage to chromosome 15q21-24. Although the age at onset, disease severity, and cerebral abnormality on a brain magnetic resonance spectrometry may correlate with the number of triplet repeats in the blood cells of DM1, it is too early to reach a conclusion. In Taiwan, the prevalence of DM1 is much lower than in Western countries. Previous studies have shown that the central nervous system symptomatology is correlated mainly with the white matter lesions in the brain MRI, but the CNS manifestations seem unrelated to the numbers of CTG triplet repeats in the blood cells. The inverse correlation between age at onset and CTG repeat length is significant only in patients with small expansions of about 100-250 triplet repeats. Transmission contraction of the repeat size is likely to occur in alleles with large repeats and is associated with paternal transmission. In congenital DM1, individual variability of muscle differentiation does occur, in spite of the same number of CTG repeats in the leukocytes.

Brain↗
PubMed2004

The effect of personal factors on the relationship between carbon disulfide exposure and urinary 2-thiothiazolidine-4-carboxylic acid levels in rayon manufacturing workers.

BACKGROUND: Few studies have been conducted to explore how personal factors-personal hygiene, personal protective equipment, and skin exposure affect the exposure-dose relationship in workers exposed to carbon disulfide (CS(2)). METHODS: Personal environmental monitoring of airborne CS(2) and 2-thiothiazolidine-4-carboxylic acid (TTCA) levels in post-shift urine were determined for sixty-five rayon workers. The personal factors affecting the CS(2)-TTCA relationship were measured by questionnaire and dermatological diagnosis. RESULTS: In simple linear regression analyses, we found shower right after work, respirator, gloves, apron, and skin disease were significantly associated with U-TTCA levels among all personal factors. Skin disease was, however, the only personal factor that remained significant throughout multivariate linear regression analyses. CONCLUSIONS: In this study, the personal factor like host's skin disease was found to possibly affect the relations of U-TTCA to the occupational exposure to CS(2). The skin exposure to CS(2) for those who have skin problems on the sites possibly or potentially exposed to CS(2) in the occupational environment such as in the rayon manufacturing process is noteworthy. Workers with susceptible skins should either be assigned to work in areas without contacting hazardous materials directly or required to wear appropriately protective clothing.

Administration, Cutaneous↗
PubMed2004

Dopamine transporter binding study in differentiating carbon disulfide induced parkinsonism from idiopathic parkinsonism.

Long-term exposure to carbon disulfide (CS(2)) may induce parkinsonian features. There may be confusion in distinguishing between CS(2) parkinsonism and idiopathic parkinsonism, especially for workers who developed parkinsonian features in viscose rayon plants. We performed clinical examinations, and laboratory studies including magnetic resonance imaging (MRI) and dopamine transporter (DAT) studies with (99m)Tc-TRODAT-1 brain single photon emission computed tomography (SPECT) in three workers who had long-term exposure to CS(2). Patient 1 had polyneuropathy, and encephalopathy with tremor; patient 2 had polyneuropathy, and encephalopathy with parkinsonian features; and patient 3 had pure parkinsonian features without polyneuropathy or cerebellar signs. The treatment with l-dopa was effective in patient 3, but non-effective in patient 2. Brain MRI revealed multiple high signal intensities over the subcortical white matter, basal ganglia, and/or even the brainstem in patients 1 and 2, but normal in patient 3. In DAT studies, the bindings were normal in patients 1 and 2 and was decreased in patient 3. We conclude that CS(2) exposure may induce polyneuropathy, and cerebellar dysfunction in addition to parkinsonian features and that brain MRI may show multiple lesions in the cerebral white matter and basal ganglia. In addition, DAT with (99m)Tc-TRODAT-1 brain SPECT may provide a useful information in differential diagnosis between CS(2) parkinsonism and idiopathic parkinsonism.

Brain↗
PubMed2004

Maternally inherited diabetes and deafness (MIDD) syndrome: a clinical and molecular genetic study of a Taiwanese family.

We report on a case of a 48-year-old woman presenting with maternally inherited diabetes mellitus and deafness (MIDD) syndrome. Molecular genetic analysis and clinical evaluation were conducted in the patient and her 4 children to investigate the interrelation between an MIDD-associated mitochondrial DNA (mtDNA) mutation and clinical manifestations. Various symptoms and markers of MIDD, including seizures, migraines, short stature, mental retardation, and stroke-like episodes, were reviewed. Diabetes mellitus (DM) was studied by oral glucose tolerance and glucagon stimulation tests. Hearing impairment was determined by standard hearing tests and a brainstem auditory evoked potential test. The A3243G and T3271C transitional mutations of mtDNA were investigated from muscle and/or leukocytes and hair follicles. Mitochondrial-related symptoms were not found in the children, although they all harbored a heteroplasmic A3243G transition of mtDNA, as detected in screened samples. For the patient, the proportion of mutant mtDNA was highest in muscle cells followed by hair follicles and then leukocytes. Moreover, the proportion of mutant mtDNA was also higher in hair follicles than in leukocytes for asymptomatic family members. This Taiwanese MIDD family was found to have the A3243G point mutation as revealed from molecular genetic studies of leukocytes, hair follicles, and muscle tissue. However, no correlation was found between the proportion of mutant mtDNA and clinical features of any family member.

Adolescent↗
PubMed2004

Charcot-Marie-Tooth disease type 1A: a clinical, electrophysiological, pathological, and genetic study.

Various clinical manifestations, electrophysiological findings, and sural nerve biopsies are reported in a Taiwanese family with type 1A Charcot-Marie-Tooth disease (CMT-1A). In addition, molecular genetic studies for duplication of the peripheral myelin protein 22 (PMP22) gene were also performed. There were 3 patients (2 men and 1 woman) with ages at onset ranging from 37 to 44 years. The onset of symptoms was insidious, and the neurological manifestations included distal muscle weakness and wasting, mild sensory loss, and hyporeflexia or areflexia. The severity of clinical manifestations varied from mild to severe, although with very prominent demyelinating polyneuropathy in electrophysiological studies. The sural nerve biopsy study revealed demyelination and an onion-bulb appearance. The molecular genetic studies confirmed duplication of the PMP22 gene in chromosome 17p11.2-12. We conclude that the clinical presentations, electrophysiological studies, and pathological studies as well as the molecular genetic analysis remain important in the clinical diagnosis of CMT-1A.

Adult↗
PubMed2004

Carbon disulfide neurotoxicity: Taiwan experience.

Carbon disulfide (CS2) intoxication may induce peripheral neuropathy, encephalopathy, and cardiovascular diseases. In our studies, abnormalities of the peripheral nerves including clinical symptoms and electrophysiological findings were still present 3 years after cessation of CS2 exposure. The data indicate that CS2 neuropathy may persist for a period of time. The involvement of central nervous system may continue even longer. Brain magnetic resonance images usually show multiple high signal intensities in the basal ganglia and subcortical white matter suggesting a vascular event particularly in the small vessels. In addition, a patient with diffuse demyelination in the cerebral hemispheres also showed a diffuse decrease of regional cerebral blood flow indicating a microangiopathy. Therefore, CS2 exposure should be considered as a risk factor for strokes and one of the causes for diffuse leucoencephalopathy. Because CS2 may induce parkinsonian features, a differential diagnosis between CS2 parkinsonism and idiopathic parkinsonism is important. In our study, dopamine transporter with 99mTc-TRODAT-1 brain single photon emission computed tomography showed a normal uptake in the corpus striatum. The data suggest a normal presynaptic dopaminergic pathway function and provide useful information in differentiation. The involvement of cardiovascular systems may be due to thrombotic effects rather than atherogenic effects. In addition, absorption of CS2 through skin is also significant particularly in workers with skin lesions.

Carbon Disulfide↗
PubMed2004

Cavernous sinus thrombosis and cerebral infarction caused by Fusobacterium nucleatum infection.

We report an unusual case of fusobacterial infection with secondary intracranial invasion. The condition was complicated by a cavernous sinus thrombosis and ischemic stroke. The patient was a 63-year-old woman with no history of systemic disease who had undergone a tooth extraction before the onset of symptoms. She initially suffered from sphenomaxillary sinusitis and a cavernous sinus thrombosis, and subsequently developed meningitis. Cerebrospinal fluid examination suggested a pyogenic infection. Anaerobic culture revealed Fusobacterium nucleatum. However, despite immediate antibiotic therapy, her condition remained unstable over the next few days, and she eventually developed an ischemic stroke. We describe our experience in the management of this case of anaerobic meningitis and the unusual complication of ischemic stroke; this case suggests that more aggressive therapy in addition to empirical antibiotics may be warranted.

Cavernous Sinus Thrombosis↗