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BACKGROUND: Allan-Herndon-Dudley syndrome (MCT 8 deficiency) is an X-linked recessive condition caused by hemizygous pathogenic variants in SLC16A2 encoding the monocarboxylate transporter 8 (MCT8). Patients present with global developmental delay and neurological impairment, and abnormal serum thyroid function tests. The drug, 3,3',5 triiodothyroacetic acid (TRIAC), was recently demonstrated to improve the endocrinological profile. Improvement in diagnostic approach is key to earlier start of treatment. PATIENT FINDINGS: We described four Chinese patients with MCT8 deficiency undergoing different diagnostic odysseys. Their initial presentation included global developmental delay and dystonia. Patient 2 also had epilepsy. Patients 1 and 2 presented with two novel variants: (1)hemizygous NM_006517.4(SLC16A2):c.1170 + 2 T > A; p.(?), and (2)hemizygous NM_006517.4(SLC16A2):c.305dupT; p.(Val103GlyfsTer17) respectively. Patients 3 and 4 were biological brothers harboring hemizygous NM_006517.4(SLC16A2):c.305dupT; p.(Val103GlyfsTer17), which was first reported in 2004. We obtained the measurement of triiodothyronine (T3) and reverse T3 (rT3) from dried blood spot samples collected on Day 1 of life from Patient 1 and studied the biomarkers (rT3 and T3/rT3 ratio) proposed by Iwayama et al. for the detection of MCT8 deficiency at birth. Our data verified the significantly reduced rT3 level in Patient 1, compared with healthy newborns, although low T3 level and comparable T3/rT3 ratio with controls were detected. SUMMARY: Patients with MCT8 deficiency often undergo diagnostic odysseys. An early diagnosis could be missed by a normal newborn thyroid function screening result based on biochemical measurement of TSH and/or T4/fT4. Early detection of rT3 is key to improving current diagnostic approach. CONCLUSION: We recommend that full thyroid function profile (TSH, T4/fT4, T3/fT3, rT3) be considered early for all pediatric patients presenting with unexplained developmental delay and/or dystonia. The potential inclusion of rT3 measurement in newborn screening may prove promising.
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Distonia , Simportadores , Recém-Nascido , Masculino , Humanos , Criança , Hong Kong , Triagem Neonatal , Transportadores de Ácidos Monocarboxílicos/genética , Simportadores/genética , TireotropinaRESUMO
OBJECTIVE: To determine the prevalence of mitochondrial diseases (MD) in Hong Kong (HK) and to evaluate the clinical characteristics and genetic landscape of MD patients in the region. METHODS: This study retrospectively reviewed the phenotypic and molecular characteristics of MD patients from participating public hospitals in HK between January 1985 to October 2020. Molecularly and/or enzymatically confirmed MD cases of any age were recruited via the Clinical Analysis and Reporting System (CDARS) using relevant keywords and/or International Classification of Disease (ICD) codes under the HK Hospital Authority or through the personal recollection of treating clinicians among the investigators. RESULTS: A total of 119 MD patients were recruited and analyzed in the study. The point prevalence of MD in HK was 1.02 in 100,000 people (95% confidence interval 0.81-1.28 in 100,000). 110 patients had molecularly proven MD and the other nine were diagnosed by OXPHOS enzymology analysis or mitochondrial DNA depletion analysis with unknown molecular basis. Pathogenic variants in the mitochondrial genome (72 patients) were more prevalent than those in the nuclear genome (38 patients) in our cohort. The most commonly involved organ system at disease onset was the neurological system, in which developmental delay, seizures or epilepsy, and stroke-like episodes were the most frequently reported presentations. The mortality rate in our cohort was 37%. CONCLUSION: This study is a territory-wide overview of the clinical and genetic characteristics of MD patients in a Chinese population, providing the first available prevalence rate of MD in Hong Kong. The findings of this study aim to facilitate future in-depth evaluation of MD and lay the foundation to establish a local MD registry.
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Povo Asiático , Doenças Mitocondriais , Humanos , Hong Kong , Prevalência , Estudos RetrospectivosRESUMO
Sarcopenia is an emerging issue, but there is no universal consensus regarding its screening and diagnosis, especially regarding the influence of the Asian Working Group for Sarcopenia (AWGS) 2019 new definition on the prevalence of community-dwelling adults. To compare the prevalence of sarcopenia between the 2019 and 2014 definitions, a cross-sectional study including 606 normal nutritional status subjects (203 men/403 women; mean age 63.3 ± 10.0 years) was performed. Sarcopenic parameters, including calf circumference, grip strength, 6-m gait speed, and bioelectrical-impedance-analysis-derived skeletal mass index (SMI), were evaluated. According to the 2019 AWGS definition, the prevalence of possible sarcopenia and sarcopenia among community-dwelling adults was 7.4 and 2.8%, respectively. There were highly consistent findings regarding sarcopenia between the 2019 and 2014 AWGS definitions according to Cohen's kappa coefficient (0.668). However, the prevalence of possible sarcopenia according to 2014 and 2019 AWGS in males increased 7.9%; in contrast, sarcopenia decreased from 7.4 to 3.7% in females (p < 0.001). In conclusion, the AWGS 2019 definition is more convenient for sarcopenia case screening and remains considerably consistent in sarcopenia identification in community-dwelling adults in Taiwan. The discordance of possible sarcopenia and sarcopenia by sex is a concern.
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BACKGROUND: Guillain-Barré syndrome (GBS) is a rare acquired immune-mediated polyneuropathy. Updated population-based data concerning paediatric GBS is needed. METHODS: Paediatric patients aged below 18 years diagnosed with GBS between 2009 and 2018 in all 11 paediatric departments in Hong Kong were identified from the Hong Kong Hospital Authority Clinical Data Analysis and Reporting System. The collected data from medical health records were reviewed by paediatric neurologist from each department. Estimated incidence of paediatric GBS was calculated. We also compared our findings with other paediatric GBS studies in Asia. RESULTS: 63 subjects of paediatric GBS were identified, giving an estimated annual incidence of 0.62 per 100,000 population. Half of the subjects had acute inflammatory demyelinating polyneuropathy (AIDP) (n = 31; 49.2%), one quarter had Miller Fisher Syndrome (MFS) (n = 16; 25.4%), one-fifth had axonal types of GBS (n = 12; 19.0%), and four were unclassified. Paediatric subjects with axonal subtypes of GBS compared to the other 2 subtypes, had significantly higher intensive care unit (ICU) admission rates (p = 0.001) and longest length of stay (p = 0.009). With immunomodulating therapy, complete recovery was highest in those with MFS (100%), followed by AIDP (87.1%) and axonal GBS (75%). Our study also confirms a higher MFS rate for paediatric GBS in East Asia region and our study has the highest MFS rate (25.4%). CONCLUSION: Our population-based 10-year paediatric GBS study provides updated evidence on estimated incidence, healthcare burden and motor outcome of each subtype of paediatric GBS and confirmed a higher occurrence of paediatric MFS in East Asia.
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Síndrome de Guillain-Barré , Síndrome de Miller Fisher , Humanos , Criança , Idoso , Síndrome de Miller Fisher/epidemiologia , Síndrome de Guillain-Barré/diagnóstico , Axônios , Incidência , Hong Kong/epidemiologiaRESUMO
BACKGROUND: Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form. CASE: We retrospectively reviewed 8 cases from 2008 to 2019 with cerebrospinal fluid neurotransmitter analysis performed at our centre. All cases had an elevated urine vanillactic acid and, in most cases, with N-acetylvanilalanine detected. Cerebrospinal fluid analysis showed low downstream metabolites vanillylmandelic acid, homovanillic acid but high 3-O-methyl-L-DOPA, 5-hydroxytryptophan. Cerebrospinal fluid pterins were normal. Genotyping in DDC confirms the diagnosis. Urine organic acid analysis provided the first clue to diagnosis in four of the cases, which then triggered cerebrospinal fluid neurotransmitter and genetic analysis. We also developed a diagnostic decision support system to assist the interpretation of the mass spectrometry data from urine organic acids. CONCLUSIONS: Urine organic acid could be essential in guiding subsequent investigations for the diagnosis of aromatic L-amino acid decarboxylase deficiency. We propose to screen suspected cases first with urine organic acids, specifically looking for vanillactic acid and N-acetylvanilalanine. Suggestive findings should be followed with target analysis for c.714 + 4A > T in ethnically Chinese patients. The assistive tool allowed expedite interpretation of profile data generated from urine organic acids analysis. It may also reduce interpreter's bias when peaks of interest are minor peaks in the spectrum.
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Erros Inatos do Metabolismo dos Aminoácidos , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Erros Inatos do Metabolismo dos Aminoácidos/genética , Descarboxilases de Aminoácido-L-Aromático/deficiência , Descarboxilases de Aminoácido-L-Aromático/genética , Humanos , Prevalência , Estudos RetrospectivosRESUMO
To evaluate the effects of short-term administration of enriched branched-chain amino acids (BCAAs) on subjects with pre-sarcopenia or sarcopenia, our quasi-experimental study enrolled 33 subjects (12 pre-sarcopenia/21 sarcopenia; 6 men/27 women; mean age 66.6 ± 10.3 years) to take one sachet (3.6 g) of enriched BCAA powder twice a day for five weeks followed by a discontinuation period of 12 weeks. We evaluated sarcopenic parameters, including grip strength, 6-meter gait speed, and bioelectrical-impedance-analysis-derived skeletal mass index (SMI), at baseline, 5 weeks, and 17 weeks. We found that both pre-sarcopenic and sarcopenic subjects showed improved SMI, gait speed, and grip strength at 5 weeks. However, all three parameters progressively declined at 17 weeks, especially SMI and grip strength in subjects aged < 65 years and gait speed and grip strength in subjects aged ≥ 65 years. It thus appears that supplementation with enriched BCAAs for 5 weeks correlates with short-term positive effects on sarcopenic parameters but attenuation of those effects following discontinuation for 12 weeks.
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Aminoácidos de Cadeia Ramificada/administração & dosagem , Duração da Terapia , Músculo Esquelético , Sarcopenia , Idoso , Suplementos Nutricionais , Feminino , Força da Mão/fisiologia , Humanos , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/fisiopatologia , Sarcopenia/diagnóstico , Sarcopenia/dietoterapia , Sarcopenia/metabolismo , Sarcopenia/fisiopatologia , Resultado do Tratamento , Velocidade de Caminhada/fisiologiaRESUMO
Aims: Muscle disorders are clinically and genetically heterogeneous. Investigations, including plasma creatine kinase, electromyography, and nerve conduction velocity studies are often nonspecific, whereas muscle biopsy might be limited by sampling bias and variable histopathology. Next-generation sequencing is now generally considered an important diagnostic tool for muscle disorders, with decreased costs and improved diagnostic yield. Inclusion of a large number of genes in the analysis might, however, generate a large number of ambiguous results and create unnecessary confusion for clinicians and patients. Methods: An ethnic Chinese patient presented at age 10 with tip-toe walking. Upon examination the patient had a waddling gait, a tight Achilles tendon with pes cavus. A muscle biopsy showed the presence of minicores with disruption of the myofibrillary network and Z-bands. Sequencing was performed using the Flexi-Myo panel, which provides coverage for 85 myopathic genes. Reporting of sequencing results was decided by the responsible chemical pathologists based on the available clinical and genetic information. Results: A previously identified heterozygous in-frame deletion was detected in MYH7, which confirmed the diagnosis of Laing myopathy. No variants of uncertain significance required reporting. Conclusion: We describe the effectiveness of our Flexi-Myo panel approach for the diagnosis of muscle disorders, which confirmed diagnosis of Laing myopathy in what had been a clinically ambiguous presentation. This approach enables efficient genomic testing for muscle diseases in adults and children with satisfactory diagnostic yield and sufficient sensitivity, whereas avoiding the reporting of ambiguous results. Similar strategies might also be implemented for other groups of disorders.
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Miosinas Cardíacas/genética , Miopatias Distais/genética , Sequenciamento de Nucleotídeos em Larga Escala , Distrofias Musculares/genética , Cadeias Pesadas de Miosina/genética , Adulto , Criança , Pré-Escolar , Miopatias Distais/diagnóstico , Feminino , Humanos , Lactente , Masculino , Distrofias Musculares/diagnósticoRESUMO
BACKGROUND: To establish the prevalence of hearing deficit in children with Down syndrome (DS) in Hong Kong as measured by brainstem auditory evoked potentials (BAEP). The secondary objective is to examine the agreement between BAEP and clinical questioning in detecting hearing deficit in DS. METHODS: Consecutive DS patients attending the Down's Clinic in a regional pediatric referral center were recruited into this cross-sectional study. BAEP data performed within 12 months were retrieved. The care-taker was interviewed with a structured questionnaire to detect any symptom of hearing impairment. BAEP findings and clinical questionings were compared in an agreement analysis using quadratic weighted kappa statistics. RESULTS: Fifty DS patients (35 male, 15 female, mean age 11.70 years ± 5.74 standard deviation) were recruited. Eighteen patients (36.0%) were identified having hearing deficit by BAEP. Among patients with hearing impairment, 13 patients (72.2%) had a conductive deficit, and most have mild to moderate hearing loss. Five patients (27.8%) had sensorineural deficit and most have moderate to severe degree. Eight (44.4%) had bilateral hearing deficit. Care-takers of 13 patients (26.0%) reported symptoms of hearing impairment, with 9 (69.2%) having mild symptoms, 3 (23.1%) had moderate symptoms and 1 (7.7%) had severe symptoms. The weighted kappa was 0.045 (95.0% confidence interval - 0.138-0.229), indicating very poor strength of agreement between BAEP and clinical questioning. For patients with conductive hearing impairment, only 1 patients (7.7%) recalled history of otitis media. CONCLUSIONS: The estimated point prevalence of hearing impairment in Chinese DS children in Hong Kong is 36%. Our finding of poor strength of agreement between objective testing and symptom questioning reflects significant underestimation of hearing impairment by history taking alone. In view of the high prevalence and low parental awareness, continuous surveillance of hearing is mandatory for DS patients throughout childhood and adolescence.
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Síndrome de Down/epidemiologia , Perda Auditiva/epidemiologia , Adolescente , Criança , Estudos Transversais , Síndrome de Down/fisiopatologia , Potenciais Evocados Auditivos/fisiologia , Feminino , Perda Auditiva/etiologia , Humanos , Masculino , PrevalênciaRESUMO
Hyperphenylalaninemia is one of the commonest inborn errors of metabolism affecting approximately 1 in 15,000 livebirths. Among Chinese, BH4 deficiency leading to hyperphenylalaninemia is much commoner than in Caucasians. Exact diagnosis is important for the treatment and genetic counseling. In 2000, newborn screening for phenylketonuria is mandatory by law in China throughout the whole country. However, it is not yet included in the newborn screening program of the Hong Kong Special Administrative Region, China. Published data on hyperphenylalaninemia among HongKong Chinese are largely lacking. We report a 1-year-old Hong Kong Chinese girl with severe 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. The patient presented with infantile hypotonia and was misdiagnosed as cerebral palsy. She had very mild hyperphenylalaninemia (95 µmol/L), significantly high phenylalnine-to-tyrosine ratio (3.1), and elevated prolactin of 1109 mIU/L. Genetic analysis confirmed a homozygous known disease-causing mutation PTS NM_000317.1:c.259C>T; NP_000308.1: p.P87S in the proband. In our local experience, while the estimated prevalence of hyperphenylalaninemia due to PTPS deficiency was reported to be 1 in 29,542 live births, not a single case of phenylalanine hydroxylase deficiency has been reported. Furthermore, there is a general lack of awareness of inherited metabolic diseases in the community as well as among the medical professionals. Very often, a low index of clinical suspicion will lead to delay in diagnosis, multiple unnecessary and costly investigations, prolonged morbidity and anxiety to the family affected. We strongly recommend that expanded newborn screening for hyperphenylalaninemia should be implemented for every baby born in the Hong Kong Special Administrative Region, China.
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Fenilcetonúrias/diagnóstico , Povo Asiático , China , Feminino , Hong Kong , Humanos , Lactente , Programas de RastreamentoRESUMO
OBJECTIVES: This study hypothesized that there is no difference between energy expenditure measured by indirect calorimetry (IC) and that estimated by predicted formulas compared with the actual intake of children with spastic cerebral palsy (CP). METHODS: Fifteen children aged 3 to 18 years with spastic CP and associated complications were recruited. IC was used to measure mean energy expenditure (MEE) compared with 3 predicted equations for energy expenditure (PEE), including body surface area (BSA), the recommended daily allowance (RDA), and an equation designed specifically for patients with CP. Friedman and paired t tests were used to examine the variance between PEE and MEE. Intraclass correlation coefficient (ICC) was used to explore the correlation between MEE and PEE. The pretest and posttest core temperatures were compared using the Wilcoxon signed rank test. RESULTS: Mean ± standard deviation MEE was 800.5 ± 295.7 kcal/d; BSA was 1,213.4 ± 171.2 kcal/d; RDA was 1,928.1 ± 341.0 kcal/d; and CP was 1,603.1 ± 215.8 kcal/d. The actual diet intake provided 935.3 ± 222.9 kcal/d. Post hoc analysis revealed a significant difference between mean MEE and PEE (P < .001) but not mean actual intake (P = .128). In addition, the ICC of MEE vs PEE was 0.635 at a 95% confidence interval, indicating a weak correlation. In addition, mean pretest body temperature was 36.4°C ± 1°C, and mean posttest body temperature was 35.8°C ± 2°C. CONCLUSIONS: The study showed that MEE was significantly different from PEE, but not from actual intake. This warrants further exploration to develop a population-specific PEE for children with spastic CP.
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Calorimetria Indireta/métodos , Paralisia Cerebral/metabolismo , Criança Institucionalizada , Metabolismo Energético , Adolescente , Antropometria , Temperatura Corporal , Criança , Pré-Escolar , Ingestão de Energia , Feminino , Humanos , MasculinoRESUMO
This study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age. Patients with the severe type had encephalopathy with poor treatment response or infantile parkinsonism with motor delay. Patients with the less common mild type had dopa-responsive dystonia or a newly recognized predominant symptom of myopathy. Female siblings had more severe phenotypes. The phenotype and treatment outcomes were strongly related to a homovanillic acid level and homovanillic acid/5-hydroxyindolacetic acid ratio of less than 1 in the cerebrospinal fluid. Hyperprolactinemia was found in 50% of the severe cases. Levodopa was the mainstay of treatment, and early addition of selegiline resulted in a remarkable response in some patients. Treatment response for mild-type patients is universally good even with a treatment delay of 10 years after onset of neurological symptoms.
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Deficiências Nutricionais/tratamento farmacológico , Dopaminérgicos/uso terapêutico , Levodopa/uso terapêutico , Transtornos Parkinsonianos/tratamento farmacológico , Selegilina/uso terapêutico , Tirosina 3-Mono-Oxigenase/deficiência , Adolescente , Adulto , Criança , Pré-Escolar , Quimioterapia Combinada , Feminino , Humanos , Masculino , Transtornos Parkinsonianos/genética , Fenótipo , Prolactina/sangue , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
Wilson disease (WD), an autosomal recessive disorder of copper transport, is the most common inherited liver disorder in Hong Kong Chinese. This was the first local study to elucidate the molecular basis and establish an effective DNA-based diagnostic protocol. The ATP7B genes of 65 patients were amplified by polymerase chain reaction (PCR) and sequenced. Haplotype analysis was performed using D13S301, D13S314, and D13S316. The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence. Allele age of p.R778L was determined by the smallest homozygosity region between D13S301 and D13S270. We identified 42 different mutations with 17 being novel. p.R778L (17.3%) was the most prevalent. Exons 2, 8, 12, 13, and 16 harbored 70% mutations. Thirty-two haplotypes were associated with WD chromosomes. The estimated prevalence rate was 1 in 5,400. Three out of 660 normal subjects had p.L770L/p.R778L. In the remaining 657 individuals, neither p.L770L nor p.R778L was found. We characterized a Hong Kong Chinese-specific ATP7B mutation spectrum with great genetic diversity. Exons 2, 8, 12, 13, and 16 should be screened first. The perfect linkage disequilibrium suggested that p.R778L and its private polymorphism p.L770L originated from a single ancestor. This East-Asian-specific mutation p.R778L/p.L770L is aged at least 5,500 years.
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Heterogeneidade Genética , Degeneração Hepatolenticular/genética , Mutação , Povo Asiático , Análise Mutacional de DNA , Frequência do Gene , Haplótipos , Hong Kong , Humanos , Desequilíbrio de LigaçãoRESUMO
The correct name of the eighth author should be given as Sik-To Lai, not Jak-Yiu Lai.
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BACKGROUND/PURPOSE: This study was undertaken to describe the sonographic features of meniscal subluxation in the weight-bearing position and to determine any association between meniscal subluxation and radiographic osteoarthritis. METHODS: In total, 238 knees with symptoms were examined successfully with weight-bearing anteroposterior and lateral radiographs and high resolution ultrasonography. The radiographs were examined to determine whether participants had radiographic osteoarthritis, graded using the Kellgren-Lawrence Scale. The degree of subluxation of the medial meniscus in each knee was measured using high resolution ultrasound with a 10-MHz linear transducer, at the level of the medial collateral ligament in weight-bearing condition. The degree of subluxation was compared in knees with the presence or absence of radiographic osteoarthritis using Students t test. Additional analysis between knees with early and advanced radiographic osteoarthritis was also performed. RESULTS: Meniscal subluxation for knees with (n = 141) and without (n = 97) radiographic signs of osteoarthritis were 4.3 1.9 mm and 0.7 0.6 mm, respectively. The difference was highly significant (p < 0.001). After age adjustment, the medial meniscal subluxation of age-matched subjects were 4.8 1.7 mm for knees with radiographic osteoarthritis (n = 43) and 1.0 0.8 mm for knees without such changes (n = 43). The difference between the two groups was still significant (p < 0.001). The greatest meniscal subluxation was seen in knees with advanced radiographic signs of osteoarthritis; no knee with osteoarthritic changes on radiographs had an undisplaced meniscus. CONCLUSION: Meniscal subluxation is a prominent feature on weight-bearing sonographic imaging in patients with radiographic osteoarthritis and could be considered as a risk factor for the development of knee osteoarthritis. By using musculoskeletal ultrasonography, one can detect this occult meniscal derangement early before the appearance of radiographic signs of osteoarthritis.
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Meniscos Tibiais/diagnóstico por imagem , Osteoartrite do Joelho/diagnóstico por imagem , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radiografia , UltrassonografiaRESUMO
Angular scatterometry, which has the advantage of good measurement precision, is an optical measurement technology based on the analysis of light scattered from periodic features, such as a linear grating, and is proposed as an alternative solution for overlay metrology. We present overlay measurements using an angular scatterometer and a bright-field microscope. A theoretical library based on rigorous coupled wave theory was created, and the reflected signatures measured by angular scatterometer were matched to the library to obtain structure parameters, including overlay, critical dimension (CD), and sidewall angle at the same time. The results reveal that angular scatterometer has a good precision and low tool-induced shift for overlay measurements, and has the potential for integrated metrology.
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We studied the in vivo cerebral metabolites and documented the presence of MECP2 gene mutations in six Chinese females with Rett syndrome. Magnetic resonance spectroscopy spectra from the frontal lobe (gray and white matter) and deep gray nuclei (basal ganglia and thalamus) of either side were obtained. N-acetylaspartate/total creatine, choline/total creatine, and N-acetylaspartate/choline ratios were analyzed and compared with six healthy age-matched female control subjects. MECP2 gene mutation was identified in four patients; one patient had polymorphism and one patient did not have gene mutation. N-acetylaspartate/total creatine of the frontal lobe of all patients (mean: 2.63, S.D. = 0.33) was decreased compared with age-matched control subjects (mean: 3.15, S.D. = 0.27), and the difference was statistically significant (P = 0.017) with a mean difference of 0.52 (95% CI = 0.68-0.36). The difference in all other metabolite ratios in the frontal lobe and deep gray nuclei were not statistically significant compared with age-matched control subjects. Mild frontal lobe and anterior temporal lobe atrophy was present in three patients. Proton-magnetic resonance spectroscopy is a sensitive method capable of detecting the biochemical changes in Rett syndrome and is able to detect changes before conventional magnetic resonance imaging. Our preliminary results suggest that reduction in N-acetylaspartate/total creatine ratio may not be related to the MECP2 mutation.
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Proteínas Cromossômicas não Histona , Proteínas de Ligação a DNA/genética , Espectroscopia de Ressonância Magnética , Mutação , Proteínas Repressoras , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética , Adolescente , Adulto , Povo Asiático/genética , Criança , Pré-Escolar , Feminino , Lobo Frontal/patologia , Humanos , Imageamento por Ressonância Magnética , Proteína 2 de Ligação a Metil-CpG , Substância Cinzenta Periaquedutal/patologia , Polimorfismo GenéticoRESUMO
Paroxysmal kinesigenic choreoathetosis is a rare neurologic disorder characterized by sudden attacks of brief involuntary dyskinetic movement that are precipitated by voluntary movement. A 14-year-old male who presented with frequent brief attacks of hemidystonia triggered by sudden movement is reported. Investigations, including video electroencephalogram and magnetic resonance imaging of brain, were normal. There was excellent and sustained response to carbamazepine. Ictal single-photon emission computed tomography using 99mTc ethyl cysteinate dimer revealed increased perfusion of the contralateral basal ganglia, which is associated with onset of choreoathetosis attacks. Our findings provide evidence that hyperactivity of the basal ganglia is associated with the dyskinetic attacks in paroxysmal kinesigenic choreoathetosis.