[Pediatric laryngeal clefts: an experience in the diagnosis and management of 13 cases].

Objective: To investigate the diagnosis and management of laryngeal cleft. Method: The clinical data of 13 cases of laryngeal cleft treated between 2007 and 2015 was analyzed retrospectively. Results: The children with laryngeal cleft were classified according to the classification of Benjamin-Inglis, as type Ⅰ(11 cases), typeⅡ(1 case) and type Ⅲ(1 case). All patients were confirmed by microlaryngobronchoscopy under general anaesthetic. Eleven typeⅠ and 1 type Ⅱ clefts were managed conservatively, with which all type Ⅰ patients were successfully managed, while the type Ⅱ patient was resolved by surgical endoscopy. The type Ⅲ patient was treated by open repair but the results was poor. Conclusions: Patients who suffered with choking on feeding or recurrent aspiration pneumonia, especially coexisted with other congenital malformation, needed detailed evaluation for laryngeal cleft, although which was a rare congenital abnormality. Electronic laryngoscope could be the first step to screen the cleft, while microlaryngobronchoscopy is the gold standard for diagnosis of laryngeal cleft. The majority of children with lower type clefts can be managed conservatively. Surgical endoscopy has high success rate when strictly following the indication. Type Ⅲ and Ⅳ clefts have high mortality for usually combining with severe complications and abnormalities.

[Causes and management of pediatric spontaneous tonsillar haemorrhage].

Objective: To analyze the causes and management plan of pediatric spontaneous tonsillar haemorrhage(STH). Methods: According to the criteria of STH difined by Griffies, patients with STH from December 2013 to January 2016 were included in this retrospective study. Results: A total of 11 patients were reviewed. The etiological diagnosis included 3 pediatric Epstein-Barr virus associated infectious mononucleosis(EBV-IM), 3 suspected pediatric EBV-IM to 3 acute suppurative tonsillitis, 1 acute viral tonsillitis and 1 hemophilia A. The management strategies included antiviral, antibacteria, transfusion, surgical examination followed with bipolar coagulation hemostasis under general anesthesia. No patient treated with tosillectomy. Conclusions: STH is now a rare condition, the causes of which in child are more or less different from adult.This emergency can be treated in time if a detailed management plan for pediatric STH is formulated.

Acute thyroid abscess secondary to oesophageal perforation.

Acute thyroid abscess is rare, however this report describes the case of a 71-year-old male with an acute thyroid abscess resulting from oesophageal perforation who was successfully treated with antibiotic (cefotaxime sodium), neck exploration and a right subtotal thyroidectomy. The patient reported ingesting a fish bone and, although this had been dislodged, he experienced continuing pharyngalgia and fever. An anterior neck swelling with tenderness and erythema was noted at the level of the right thyroid. At operation, the recurrent laryngeal nerve was identified and preserved, and a large part of the right thyroid was excised. During the 5-year follow-up period, deglutition function and thyroid function tests remained normal. This result indicates that early administration of antibiotic, and surgical treatment of the infection source and affected thyroid tissue are critical for a successful outcome and the prevention of severe complications.

A chemical and enzymological account of the multiple forms of human liver aldehyde dehydrogenase. Implications for ethnic differences in alcohol metabolism.

Three major low-pI zones of aldehyde dehydrogenase (aldehyde:NAD+ oxidoreductase, EC 1.2.1.3) may be visualized with specific histochemical staining after starch gel electrophoresis at pH 7.4 of Caucasian human liver extracts, whereas about 50% of Chinese human liver extracts show only two such zones. The three zones of activity were purified to apparent homogeneity from Caucasian liver. The substrate specificity of each form was investigated by double reciprocal plots using 13 aldehydes of various chemistries. The acetaldehyde-preferring isozyme I lacking in 50% of Chinese livers had a slightly lower native and subunit molecular weight than the "universal' isozymes IIa and IIb. All forms were highly sensitive to disulfiram inhibition. This inhibition could be protected against, or reversed, by dithiothreitol. 2,2'-Dithiodipyridine was a slower inhibitor of isoenzyme I. All three purified forms of the enzyme, as well as crude extracts of normal and isozyme I-deficient Chinese livers, showed positive immunoreactivity to antibodies prepared in rabbits against type I enzyme. Tryptic peptide maps of forms IIa and IIb were almost identical, whereas that of form I, although showing some similarities, was clearly different. These results provide a consistent explanation for the acetaldehyde-mediated extreme sensitivity to moderate alcohol ingestion shown normally by about 50% of oriental subjects and during disulfiram (Antabuse) therapy by all subjects.

Subtyping of properdin factor B (Bf) by isoelectrofocusing.

Properdin factor B (Bf) is a polymorphic protein in the human plasma. Two common alleles, BfS, BfF, and two rare alleles, BfF1, BfS1, have been demonstrated in Caucasians. We now report that BfF can be subtyped into two alleles, BfFa and BfFb by isoelectrofocusing. Family studies indicate that they are inherited in a co-dominant pattern. Gene frequencies for Caucasians are: BfS 0.808, BfF1 0.019, BfS1 0.005, BfFa 0.038 and BfFb 0.128.

Human liver aldehyde dehydrogenase in Chinese and Asiatic Indians: gene deletion and its possible implications in alcohol metabolism.

Two separate human liver aldehyde dehydrogenases exist which show differences in substrate specificity, cation inhibition or activation, and molecular weight. In this paper we report a common absence of enzyme 2 in Chinese which may be taken to indicate a gene deletion coding for this enzyme. The possible implication of thie gene deletion among Chinese is discussed.

Stomach aldehyde dehydrogenase: report of a new locus.

Two distinct human liver and one erythrocyte aldehyde dehydrogenase (ALDH) were reported earlier.. In this study we show evidence to support the existence of another aldehyde dehydrogenase in human stomach tissues. This enzyme does not utilize formaldehyde, acetaldehyde or pyruvic aldehyde as substrate. Furfuraldehyde is readily oxidized while propion-aldehyde is used to a lesser extent. One genetic variant was seen among 71 Chinese stomach specimens while another different variant was found among 33 Indian samples.

The distribution of Gc subtypes among the mongoloid populations.

The polymorphism of Gc (group-specific components) has been investigated for a series of 3,160 individual samples from 11 Mongoloid populations in Asia and North and South America by isoelectric focusing on polyacrylamide gels. The samples fall into six Gc phenotypes which can be explained by the three common alleles, Gc1F, Gc1S, and Gc2, together with several variant phenotypes explained as the heterozygotes for the three common alleles. The distribution of Gc1F suballele appears to be considerably different from population to population among Mongoloids, ranging from 0.105 (Machiguenga Indians, Peru) to 0.609 (Kadazan, Borneo). A clear geographic cline from Southeast Asia into South America in Gc1F allele was observed in the populations. In general, Gc1F allele frequencies are lower in European populations and higher in African populations. The range of variability in the Gc1F values observed among the Asiatic populations is between the Africans and the Europeans.

Salivary peroxidase, Pm, and Ph protein polymorphisms in Malasians..

Three human saliva genetic markers, namely, salivary peroxidase (SAPX), Pm, and Ph proteins, were investigated in the three major ethnic groups of Malaysia: Malays, Chinese, and Indians. For Pm, the allelic frequencies of Pm+ for Malays, Chinese, and Indians are 0.385 +/- 0.030, 0.282 +/- 0.026, and 0.289 +/- 0.026 respectively. For Ph, the allelic frequencies of Ph+ are 0.082 +/- 0.016 for Malays, 0.109 +/- 0.017 for Chinese, and 0.062 +/- 0.013 for Indians. For SAPX, the allelic frequencies of SAPX1 in Malays, Chinese, and Indians are 0.762 +/- 0.027, 0.755 +/- 0.027, and 0.723 +/- 0.026 respectively.

Biochemical genetic markers in the Kadazans of Sabah, Malaysia.

Kadazans, the largest indigenous group in Sabah, northern Borneo, were surveyed for glyoxalase I, phosphoglucomutase I, red cell acid phosphatase, esterase D, adenosine deaminase, soluble glutamate pyruvate transaminase, soluble glutamate oxaloacetate transaminase, 6-phosphogluconate dehydrogenase, uridine monophosphate kinase, adenylate kinase, peptidase B and D, superoxide dismutase, C5, group specific component, haptoglobin and transferrin. Kadazans were found to be polymorphic for GLO I, PGM I, RCAP, esterase D, ADA, s-Gpt, 6PGD, UMPK, Gc, C5, haptoglobin and peptidase B. Rare variants were found for transferrin and peptidase D. No variant was found for s-Got, SOD and AK.

Acid alpha-glucosidase in Malaysians. Population studies and the occurrence of a new variant.

Acid alpha-glucosidase from the placenta was electrophoretically surveyed in a total of 633 Malaysians, 236 of Malay, 261 of Chinese and 136 of Indian ancestries. A new variant, alpha-glucosidase 3-1 was observed in 1 Malay and 3 Indians. A polymorphism for this enzyme was observed among Indians, but in Chinese and Malays variants are rare. Phenotype 2-1 was observed once in a Chinese and once in a Malay.

Human saliva as a source of biochemical genetic markers. II. Genetic interpretations and possible utilization.

Human saliva enzymes are compared to analogous blood enzymes. The genetic interpretations for variants of several saliva proteins are reviewed. The possible use of human saliva enzymes and proteins in population genetic studies and disease diagnosis is discussed.

Saliva acid phosphatases in Malaysians: report of a new variant.

A total of 640 Malaysians, 355 of Malay, 155 of Chinese, and 130 of Indian ancestries have been examined for saliva acid phosphatases. The three ethnic groups were polymorphic for saliva acid phosphatase A (Sap-A) and saliva acid phosphatase (B (Sap-B). The gene frequencies were: Sap-A, Malays: A = 0.469, A' = 0.001, A degrees = 0.530; Chinese: A = 0.436, A' = 0.010, A degrees = 0.555; Indians: A = 0.533, A' = 0.012, A degrees = 0.456. For Sap-B, Malays: B = 0.925, B degrees = 0.075; Chinese: B = 0.797, B1 = 0.016, B degrees = 0.187; Indians: B 0.752, B degrees = 0.248. Phenotype ABB1 is described.

Human alcohol dehydrogenase ADH2 and ADH3 polymorphisms in ethnic Chinese and Indians of West Malaysia.

Human alcohol dehydrogenase ADH2 and ADH3 were investigated in liver and stomach specimens of Chinese and Indians from West Malaysia. Eight-nine percent of the Chinese carry the atypical ADH2 type, a proportion very similar to that reported in Japanese. However, among 43 Indian specimens there was not a single case of atypical ADH2. In Indians, the gene frequency of ADH13 is 0.64 and of ADH23 0.36, similar to the frequencies in Caucasians, whereas in Chinese, the gene frequency for ADH13 and ADH23 is 0.91 and 0.09, respectively. We also report some unusual enzymatic characteristics in the course of our study.

Human saliva as a source of biochemical genetic markers. I. Techniques.

The number of genetic markers identified in human saliva is still small compared to known genetic markers of blood. Enzyme activities that can be detected in human saliva by spectrophotometric techniques are listed. The methodologies currently available for the detection of biochemical genetic markers by polyacrylamide-gel electrophoresis are summarized.