Laryngeal contact granuloma after radiotherapy in patients with nasopharyngeal carcinoma: a case series.

Background: Laryngeal contact granuloma (LCG) is a benign hypertrophic lesion and phonatory injury after abnormal vocal behavior is regarded as its major etiology. Patients receiving radiation for non-laryngeal head and neck tumors are troubled by persistent voice impairment. The occurrence of LCG after radiotherapy for nasopharyngeal carcinoma (NPC) in our practice has implored us to re-exam their underlying etiology. We hypothesize that a proportion of LCG results from voice change caused by non-laryngeal head and neck cancer radiotherapy and firstly describe a distinct LCG population originated after radiotherapy for NPC with respect to the clinical profile, presentation, prognosis and response to treatment of patients. Methods: We retrospectively reviewed the laryngoscopic examination and tumor study findings to elucidate the common clinical features of patients who presented with LCG after radiotherapy for NPC. All patients were regularly monitored with telescopic examination until lesions disappeared. Data on age, sex, clinical presentation, telescopic findings, management, latency time of lesion formation, remission time and clinical outcome were reviewed. Results: The medical review identified 27 cases of LCG secondary to radiotherapy for NPC. All lesions had been diagnosed during routine endoscopy following radiation. The interval between radiation onset and endoscopic diagnosis was 3.77 months (range, 0.67-11 months). 20 cases were resolved through simple observation, 4 cases were resolved with the administration of proton pump inhibitors (PPIs), and 3 cases with a poor response to PPI therapy required subsequent surgical resection. The mean remission time in the observation and PPI groups was 4.42 months (range, 0.73-18.9 months) and 5.78 months (range, 2.17-14.63 months), respectively. All patients recovered completely and none experienced recurrence during a mean follow-up of 32.44 months (range, 5.6-71.67 months). Conclusions: Iatrogenic granulomas of vocal process are presenting after radiation for non-laryngeal head and neck cancers. In contrast with spontaneous granulomas, these granulomas can be cured at high remission rates and low recurrence trend without specific intervention. Thus, simple observation may be sufficient for radiation-induced LCG.

Case report: Acute ischemic stroke caused by intracranial artery dissection in a patient with skull fractures.

The intracranial artery dissection (IAD) is an uncommon but life-threatening disease. The IAD would develop a significant cerebral infarction due to unrecognized contrecoup brain injury. We report a 53-year-old man fell to develop blunt cerebrovascular injuries (BCVIs) more than 2 months ago. During his rehabilitation, he often had a transient left headache and underwent short-term right limb weakness twice, but he did not care. He was hospitalized again because of suffering right limb weakness for more than 4 h. The brain computed tomography angiography (CTA) showed subtotal occlusion of the left middle cerebral artery M1 segment, and the vascular morphology displayed the IAD. The patient was then treated with balloon dilation and a self-expanding stent. This case highlights that IAD may show delayed onset with no initial typical symptom. By early detecting of abnormal signs and symptoms, serious traumatic brain injury may be avoided.

Aortic dissection with epileptic seizure: A case report.

BACKGROUND: Aortic dissection (AoD) is a life-threatening disease. Its diversified clinical manifestations, especially the atypical ones, make it difficult to diagnose. The epileptic seizure is a neurological problem caused by various kinds of diseases, but AoD with epileptic seizure as the first symptom is rare. CASE SUMMARY: A 53-year-old male patient suffered from loss of consciousness for 1 h and tonic-clonic convulsion for 2 min. The patient performed persistent hypomania and chest discomfort for 30 min after admission. He had a history of hypertension without regular antihypertensive drugs, and the results of his bilateral blood pressure varied greatly. Then the electroencephalogram showed the existence of epileptic waves. The thoracic aorta computed tomography angiography showed the appearance of AoD, and it originated at the lower part of the ascending aorta. Finally, the diagnosis was AoD (DeBakey, type I), acute aortic syndrome, hypertension (Grade 3), and secondary epileptic seizure. He was given symptomatic treatment to relieve symptoms and prevent complications. Thereafter, the medical therapy was effective but he refused our surgical advice. CONCLUSION: The AoD symptoms are varied. When diagnosing the epileptic seizure etiologically, AoD is important to consider by clinical and imaging examinations.

The Association Between Oxygenation Status at 24 h After Diagnosis of Pulmonary Acute Respiratory Distress Syndrome and the 30-Day Mortality among Pediatric Oncological Patients.

Background: Pediatric oncology patients with acute respiratory distress syndrome (ARDS) secondary to pneumonia are at high risk of mortality. Our aim was to describe the epidemiology of ARDS in this clinical population and to identify the association between the oxygenation status at 24 h after diagnosis and the 30-day mortality rates, stratified by the severity of ARDS. Methods: This was a retrospective cohort study of 82 pediatric oncology patients, with a median age of 4 years, admitted to our pediatric intensive care unit with a diagnosis of ARDS between 2013 and 2021. Demographic and clinical factors were compared between the survivor (n = 52) and non-survivor (n = 30) groups. Univariate and multivariate Cox proportional hazards regression models were used to determine the association between the oxygenation status at 24 h after diagnosis and the 30-day mortality rates. Results: The mean airway pressure at ARDS diagnosis, PaO2/FiO2 (P/F) ratio, oxygenation index (OI) value, peak inspiratory pressure, and lactate level at 24 h after ARDS diagnosis, as well as complications (i.e., septicemia and more than two extrapulmonary organ failures) and adjunctive continuous renal replacement therapy, were significant mortality risk factors. After adjusting for other covariates, the oxygenation status P/F ratio (Hazard ratio [HR] = 0.98, 95% confidence interval [CI] = 0.96-1.00, P = 0.043) and OI value (HR = 1.12, 95% CI = 1.02-1.23, P = 0.016) at 24 h remained independent mortality risk factors. According to the Kaplan-Meier survival curve, a low P/F ratio (≤ 150) and high OI (>10) were associated with a higher risk of 30-day mortality (50.9 and 52.9%, respectively; both P < 0.05). Conclusion: The P/F ratio and OI value measured at 24 h after ARDS diagnosis can provide a better stratification of patients according to ARDS disease severity to predict the 30-day mortality risk.

The Effects of Hard Voice Onset on Objective Voice Function in Patients With Laryngopharyngeal Reflux.

OBJECTIVE: Laryngopharyngeal reflux (LPR) causes laryngopharyngeal hypersensitivity and laryngeal muscle hyperfunction, which may result in hard voice onset in patients with LPR. The purpose of this study is to examine the incidence of hard voice onset in patients with LPR and the effects of hard voice onset on objective voice function in patients with LPR. METHODS: Forty patients with confirmed LPR were enrolled in the LPR group, and 40 healthy subjects were enrolled in the non-LPR group. Subjects underwent laryngeal high-speed videoendoscopy, and the presence or absence of hard voice onset in each subject was determined by two experienced laryngologists based on whether glottal closure was complete or incomplete before vocal fold vibration. Based on the results, the subjects with LPR were divided into a hard voice onset group and a non-hard voice onset group. The voice onset time (VOT) was measured and compared between the hard and non-hard voice onset groups within the LPR group. Laryngeal aerodynamic assessment was also carried out on the LPR group, and subglottal pressure, phonation threshold pressure (PTP), glottal resistance, and mean flow rate were measured. The voice acoustic signals of subjects were additionally analyzed in the LPR group, and the fundamental frequency, jitter, shimmer, and noise-harmony ratio were determined. The kappa statistic, chi-square test and independent-samples t test in SPSS were used for statistical analysis. RESULTS: The two laryngologists had substantial inter-rater consistency on the evaluation of hard voice onset and non-hard voice onset, with a kappa statistic of 0.71. In the LPR group, 42.5% of patients had hard voice onset (17/40), significantly more than in the non-LPR group (8/40, 20%) (P < 0.05). The VOT in the LPR group was significantly longer than in the non-LPR group (P < 0.05). Within the LPR group, the VOT, PTP and shimmer were significantly greater in the hard voice onset group than in the non-hard voice onset group (all P < 0.05). The other laryngeal aerodynamic parameters and acoustic parameters were not significantly different between the hard voice onset group and the non-hard voice onset group (P > 0.05). CONCLUSION: Changes in vocal production may occur in LPR patients, causing them to be more susceptible to hard voice onset. The patients with hard voice onset require longer VOT and greater PTP to initiate phonation.

Bilateral Hypertrophic Olivary Degeneration after Pontine Hemorrhage: A Case Report.

BACKGROUND: Hemorrhage lesions may lead to bilateral hypertrophic olivary degeneration (HOD) through interruption of the dentato-rubral-olivary pathway. The pathological features of HOD are unusual neuronal trans-synaptic degenerative changes. CASE SUMMARY: A 56-year-old female was admitted to our hospital because her lower extremities and left upper ones were unable to move for 3 mo, and the swelling of her right lower extremities became worse 3 days ago. She had a hypertension history. Her characteristic clinical manifestations are palatal myoclonus and nystagmus. The patient's magnetic resonance imaging (MRI) results showed that she had bilateral HOD after an acute pontine hemorrhage. She was given symptomatic and supportive treatment. The gabapentin, the memantine and the trihexyphenidyl were taken twice a day each. The rehabilitation and psychotherapy were implemented. After 3 months of treatment, her eye symptoms improved. CONCLUSION: Bilateral HOD is a rare phenomenon after pontine hemorrhage. The key to diagnosis lies in the clinical manifestations and MRI results.

Modified sequential sac ligation and staged closure technique for the management of giant omphalocele.

PURPOSE: This study aimed to describe sac ligation and sequential closure for the management of giant omphalocele (GO) and analyze its outcomes. METHODS: The medical records of 13 neonates with GO treated at a tertiary general hospital between July 2012 and April 2020 were reviewed. Sac ligation and progressive external compression were performed on most cases immediately after birth. Staged closure with or without a prosthetic patch was conducted after a period of sac suspension. RESULTS: Sac ligation-traction-compression was performed on 12 cases, of which 10 underwent staged closure, one with delayed closure. One patient with coexistent esophageal atresia was deemed ineligible for surgery. Among those who had undergone staged closure, 9 survived; however, one neonate who complicated with bilateral diaphragmatic eventration and severe ventilator-associated pneumonia died from multiple-organ failure. Pentalogy of Cantrell was excluded. One patient in whom primary closure was performed after birth died aged 29 h. Pneumonia was the most common infection among patients (5/13), with three having ventilator-associated pneumonia. The median durations of mechanical ventilation and hospital stay were 22.2 days (range, 1-151) and 44.2 days (range, 2-152), respectively, and 25.6 days and 46.4 days, respectively, among patients with staged closure. Among five infants who required oxygen support for more than 28 days, four had pulmonary hypoplasia. CONCLUSIONS: Aside from abdominal wall defects, other major comorbidities and pulmonary hypoplasia influence the prognosis of GO. Sac ligation and staged closure is a effective choice for GO. TYPE OF STUDY: Retrospective Study Level of Evidence: Level IV.

Airway obstruction as the primary manifestation of infantile thyroid hemangioma.

BACKGROUND: Thyroid hemangioma mostly occurs in adults and is extremely rare in infants. So far, only four pediatric cases of thyroid hemangioma have been reported, one of which has only been clinically diagnosed. Most of the reported cases are of cavernous hemangiomas; capillary hemangioma cases are very rare. To date, there are no reports on capillary thyroid hemangioma in an infant. Therefore, here we present the case of an infant with a primary capillary hemangioma of the thyroid gland, and discuss its treatment and follow-up. CASE PRESENTATION: A2-month-old infant with normal thyroid function presented with airway obstruction as the primary manifestation of thyroid hemangioma. The main symptoms were laryngeal wheezing and dyspnea. Ultrasonography revealed hypoechoic lesions at the lower pole of the bilateral thyroid. Computed tomography revealed enlargement of the thyroid gland, inhomogeneous parenchyma enhancement, and multiple thyroid nodules. However, these imaging modalities were unable to provide an exact diagnosis and the nature of the mass remained unknown prior to an operation. Therefore, a postoperative histopathological examination was undertaken, which revealed capillary thyroid hemangioma. The symptoms significantly improved by a combined treatment involving surgery and oral propranolol. CONCLUSION: When a well-defined capsulate mass is detected on the medical image, the possibility of primary thyroid hemangioma must be considered.

Evaluation of the safety and efficacy of low-dose rasburicase in critically ill children with haematological malignancies.

Background The recommended dose of rasburicase is quite expensive, thus limiting its use. Whether a lower dose of rasburicase would be equally effective for critically ill children, who often have more complicated situations and a higher risk of hospital death, is still unknown. Objective To explore the safety and efficacy of low-dose rasburicase in critically ill children with haematological malignancies who are at high risk of tumour lysis syndrome. Setting A single-centre retrospective cohort study. Method Children with haematological malignancies who had a history of rasburicase exposure during an intensive care unit stay were enrolled. Patients were divided into two groups according to the initial dosage of rasburicase: the standard-dose group (> 0.1 mg/kg/day) and the low-dose group (≤ 0.1 mg/kg/day). The adverse events and short-term prognosis of the two groups were compared. Results Thirty-seven children were selected, 22 in the standard-dose group and 15 in the low-dose group. The most common tumour type was Burkitt's lymphoma (81%), followed by acute lymphoblastic leukaemia (11%). All patients were at high risk of tumour lysis syndrome, and 73% of them had 3 or more tumour lysis syndrome risk factors. The uric acid levels of 90% of patients with hyperuricaemia returned to the normal range within 12 h (100% in the standard-dose group and 75% in the low-dose group, P = 0.083). Eighty-four percent of patients presented serious complications, including tumour lysis syndrome (73%), acute kidney injury (59%), renal replacement treatment (24%), respiratory failure (24%), disseminated intravascular coagulation (16%) and heart failure (11%). There was no significant difference in the incidence of serious complications between the two groups. The overall 7-day and 28-day survival rates after intensive care unit admission were 86% and 84%, respectively. The average length of stay in the intensive care unit was 9.92 ± 5.13 days. Neither the short-term mortality nor the length of stay in the intensive care unit were significantly different between the two groups. Conclusion Low-dose rasburicase is effective and may be an acceptable choice for critically ill children with haematological malignancies.

Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.

BACKGROUND: Glycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency. Both infantile-onset and juvenile-onset GSD II lead to proximal muscle weakness and respiratory insufficiency and require mechanical ventilation. However, GSD II is also independently associated with delayed weaning from mechanical ventilation. This study aimed to describe a comprehensive approach including sequential invasive-noninvasive mechanical ventilation weaning and enzyme replacement therapy (ERT) in patients with weaning difficulties. CASE PRESENTATION: We studied six difficult-to-wean GSD II (three juvenile-onset, three infantile-onset) patients at the First Affiliated Hospital, Sun Yat-sen University from October 2015 to December 2017. Difficulty in weaning was defined as follows: the need for more than three spontaneous breathing trials or more than 1 week to achieve successful weaning. All patients received comprehensive treatment including sequential invasive-noninvasive mechanical ventilation weaning, ERT and general treatment. Recombinant human acid alpha-glucosidase enzyme therapy (20 mg/kg every 14 days) was used after diagnosis, and Patients 1-6 received ERT for 15.5, 4.5, 2, 2.5, 17, and 2 months, respectively. The therapeutic effect of the comprehensive treatment was observed. The patients' respiratory function and limb muscle strength improved after each ERT session. Patients who successfully completed a spontaneous breathing trial could proceed to extubation, and then start non-invasive ventilation. The patients' age range at initial mechanical ventilation was 3-47 (median 26.5) months, duration of invasive ventilation was 1-36 (median 2.75) months, and duration of noninvasive ventilation was 0-0.6 (median 0.05) month. The patients' nutritional status improved after enhanced nutritional support. Patients 2, 3, and 5 were successfully weaned off the ventilator. Patient 1 underwent tracheal intubation after six weaning failures, and Patients 4 and 6 died after therapy was abandoned by their parents. DISCUSSION AND CONCLUSIONS: Male sex, GSD II type, and the presence of malnutrition and neurological impairment may predict poor respiratory outcomes. The above-described comprehensive sequential invasive-noninvasive mechanical ventilation weaning strategy may increase the success rate of weaning from mechanical ventilation.

[Predictive value of four pediatric scores of critical illness and mortality on evaluating mortality risk in pediatric critical patients].

OBJECTIVE: To assess the performance of pediatric clinical illness score (PCIS), pediatric risk of mortality score III (PRISM III), pediatric logistic organ dysfunction score 2 (PELOD-2), and pediatric multiple organ dysfunction score (P-MODS) in predicting mortality in critically ill pediatric patients. METHODS: The data of critically ill pediatric patients admitted to Pediatric Intensive Care Unit (PICU) of First Affiliated Hospital of Sun Yat-Sen University from August 2012 to May 2017 were retrospectively analyzed. The gender, age, basic diseases, the length of PICU stay were collected. The children were divided into survival group and non-survival group according to the clinical outcome during hospitalization. The variables of PCIS, PRISM III, PELOD-2, and P-MODS were collected and scored. Receiver operating characteristic (ROC) curve was plotted, the efficiency of PCIS, PRISM III, PELOD-2, and P-MODS for predicting death were evaluated by the area under ROC curve (AUC). Hosmer-Lemeshow goodness of fit test was used to evaluate the fitting degree of each scoring system to predict the mortality and the actual mortality. RESULTS: Of 461 critically ill children, 35 children were excluded because of serious data loss, hospital stay not exceeding 24 hours, and death within 8 hours after admission. Finally, a total of 426 pediatric patients were enrolled in this study. 355 pediatric patients were survived, while 71 were not survived during hospitalization, with the mortality of 16.7%. There was no significant difference in gender, age, underlying diseases or length of PICU stay between the two groups. PCIS score in non-survival group was significantly lower than that of survival group [80 (76, 88) vs. 86 (80, 92)], and PRISM III, PELOD-2 and P-MODS scores were significantly increased [PRISM III: 16 (13, 22) vs. 12 (10, 15), PELOD-2: 6 (5, 9) vs. 4 (2, 5), P-MODS: 6 (4, 9) vs. 3 (2, 6), all P < 0.01]. ROC curve analysis showed that the AUCs of PCIS, PRISM III, PELOD-2, and P-MODS for predicting death of critical ill children were 0.649, 0.731, 0.773, and 0.747, respectively. Hosmer-Lemeshow test showed that PCIS predicted the mortality and the actual mortality in the best fitting effect (χ 2 = 7.573, P = 0.476), followed by PELOD-2 and P-MODS (χ12 = 9.551, P1 = 0.145; χ22 = 10.343, P2 = 0.111), while PRISM III had poor fitting effect (χ2 = 43.549, P < 0.001). CONCLUSIONS: PRISM III, PELOD-2 and P-MODS can discriminate between survivors and moribund patients well, and assessing the condition of critically ill pediatric patients with relatively accuracy. PCIS was the best fitting effect in predicting mortality and actual mortality, followed by PELOD-2 and P-MODS, while PRISM III had poor fitting effect.

Removal of arsenic(v) from aqueous solutions using sulfur-doped Fe3O4 nanoparticles.

In this study, magnetic sulfur-doped Fe3O4 nanoparticles (Fe3O4:S NPs) were applied as adsorbents for the removal of As(v). Fe3O4:S NPs were fabricated by a two-step route, which included low-temperature mixing and high-temperature sintering. The as-prepared Fe3O4:S NPs could effectively remove As(v) under a wide pH range of 2-10 and presented a high As(v) adsorption capacity of 58.38 mg g-1, which was much better than undoped Fe3O4 nanoparticles (20.24 mg g-1). Adsorption experiments exhibited a pseudo-second-order model of adsorption kinetics and a Langmuir isotherm model of adsorption isotherms. Additionally, the coexisting ions such as NO3 -, SO4 2-, and CO3 2- had no significant effect on As(v) adsorption and the adsorbent worked well in actual smelting wastewater. XPS and FTIR spectra of Fe3O4:S NPs before and after As(v) adsorption showed that Fe-OH groups played a significant role in the adsorption mechanisms. Moreover, the magnetic Fe3O4:S NPs adsorbents after adsorption could be rapidly separated from wastewater with an external magnetic field. Therefore, Fe3O4:S NPs could be an ideal candidate for the removal of As(v) from water.

MicroRNA-223-3p Regulates Ovarian Cancer Cell Proliferation and Invasion by Targeting SOX11 Expression.

MicroRNAs (miRNAs) often display different expression in many cancers and other diseases in current research studies. miR-223 expression is upregulated in rheumatoid arthritis. Also, miR-223 expression has been demonstrated to be highly expressed in pancreatic cancer and gastric cancer in comparison with normal tissue. However, whether miR-223 displays different expression in ovarian cancer and what its underlying functions are in ovarian cancer have remained unclear. In this study, we demonstrated that miR-223-3p was upregulated in ovarian cancer tissue. Next, we explored the functional role of miR-223-3p in ovarian cancer using SKOV3 and OVCAR3 cell lines. Our results suggested that miR-223-3p mimic promoted ovarian cancer cell proliferation, migration, and invasion in vitro. However, miR-223-3p inhibitor displayed the opposite effects. In addition, we demonstrated that miR-223-3p mimic promoted tumor growth in vivo. Furthermore, we found SOX11 (sex determining region Y-box 11) was inversely expressed with miR-223-3p in ovarian cancer (OC) cell lines and tissue specimens. miR-223-3p mimic decreased SOX11 expression. Overexpressing SOX11 inhibited ovarian cancer cell proliferation and invasion, which indicated that miR-223-3p regulated OC cell proliferation and invasion through targeting SOX11 expression. In conclusion, the findings of the present study demonstrated that miR-223-3p could be a potential therapeutic for ovarian cancer.

A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.

INTRODUCTION: Cystic fibrosis (CF) is the most common autosomal recessive disease among Caucasians but is rarer in the Chinese population, because mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. OBJECTIVES: To elucidate the causative role of a novel compound heterozygous mutation of CF. MATERIALS AND METHODS: In this study, clinical samples were obtained from two siblings with recurrent airway infections, clubbed fingers, salt-sweat and failure to gain weight in a non-consanguineous Chinese family. Next-generation sequencing was performed on the 27 coding exons of CFTR in both children, with confirmation by Sanger sequencing. RESULTS: Next-generation sequencing showed the same compound heterozygous CFTR mutation (c.865A>T p.Arg289X and c.3651_3652insAAAT p.Tyr1219X) in both children. CONCLUSIONS: As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. As c865A>T is not currently listed in the "Cystic Fibrosis Mutation Database", this information about CF in a Chinese population is of interest.

De novo SCN2A mutation in a Chinese infant with severe early-onset epileptic encephalopathy, bronchopulmonary dysplasia, and adrenal hypofunction.

Early-onset epileptic encephalopathies (EOEEs) are a group of phenotypically and genetically heterogeneous neurodevelopmental disorders. Mutations of SCN2A, the gene encoding the aII subunit of the voltage-gated sodium channel (Nav1.2), have been detected in some EOEE patients. This report describes a 4-month-old female who presented with severe EOEE as well as bronchopulmonary dysplasia and adrenal hypofunction. Whole-exome sequencing revealed a novel missense mutation in SCN2A (c.1261T > G; p.L421V) that was not detected in either her parents or her brother. The mutation was confirmed by Sanger sequencing and characterized as pathogenic by several prediction programs. This finding of a de novo SCN2A mutation in an ethnic Chinese infant with EOEE as well as multi-organ dysfunction expands the phenotypic spectrum of SCN2A mutations.

A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy.

Pompe disease is an autosomal recessive disorder resulting from a deficiency of acid α-glucosidase (GAA). It is uncommon in the mainland of China, due to rare mutations in the GAA gene. The aim of this work was to elucidate the causative role of a novel compound heterozygous mutation of juvenile onset Pompe disease. In this study, clinical samples were obtained from two siblings with muscle weakness, recurrent airway infections, cardiomyopathy and respiratory insufficiency in a non-consanguineous Chinese family. The α-glucosidase activity in leukocytes of both children was low. Next-generation sequencing was performed on the 19 coding exons of GAA in both children, with confirmation by Sanger sequencing. Next-generation sequencing showed the same compound heterozygous GAA mutation (c.1216G>A p.Asp406Asn and c.1935C>A p.Asp645Glu) in both children. As this mutation is consistent with the clinical manifestations of juvenile onset Pompe disease and no other mutations were detected after scanning the gene sequence, we suggest that the Pompe disease phenotype is caused by compound heterozygosity for c.1216G>A and c.1935C>A. As c.1216G>A is not currently listed in the Pompe disease Mutation Database, this information about Pompe disease in a Chinese population is of particular interest.

Speciation of antimony by preconcentration of Sb(III) and Sb(V) in water samples onto nanometer-size titanium dioxide and selective determination by flow injection-hydride generation-atomic absorption spectrometry.

A novel method for prevention of the oxidation of Sb(III) during sample pretreatment, preconcentration of Sb(III) and Sb(V) with nanometer size titanium dioxide (rutile) and speciation analysis of antimony, has been developed. Antimony(III) could be selectively determined by flow injection-hydride generation-atomic absorption spectrometry, coexisting with Sb(V). Trace Sb(III) and Sb(V) were all adsorbed onto 50 m g TiO2 from 500 ml solution at pH 3.0 within 15 min, then eluted by 10 ml of 5 mol/l HCl solution. One eluent was directly used for the analysis of Sb(III); to the other eluent was added 0.5 g KI and 0.2 g thiourea to reduce Sb(V) to Sb(III), then the mixture was used for the determination of total antimony. The antimony(V) content is the mathematical difference of the two concentrations. Detection limits (based on 3sigma of the blank determinations, n=11) of 0.05 ng/ml for Sb(III) and 0.06 ng/ml for Sb(V), were obtained.