Clinical Characteristics of Infantile Colic

PURPOSE: To diagnose infantile colic from parent questionnaires, as well as investigating the risk factors and clinical course of infantile colic. METHODS: We retrospectively reviewed the medical records of 462 infants, with a corrected age of < 4 months at the time of visiting Inha University Hospital from January to December 2017. Parents responded to a 10-line questionnaire consisting of seven items relating to colic symptoms and three further items relating to underlying disease. The score was based on the number of days each symptom was evident during the preceding week. We defined infantile colic as the sum total being greater than seven points; if at least one of the three symptoms suggesting underlying disease was present, the infant was excluded from the diagnosis. RESULTS: One hundred and sixty-seven infants (36.1%) satisfied the criteria. The lower the gestational age, the more infantile colic they developed (P < 0.001). The prevalence of colic was higher in infants born with a birth weight < 2.5 kg (62.7% vs. 24.4%, P < 0.001) and in infants small for their gestational age, in the < 10th percentile (54.5% vs. 33.7%, P=0.003). The prevalence of colic was significantly different according to the type of feeding (P=0.001), being the lowest in breast-only feeding (29.8%), 32.8% in mixed feeding with breast milk and formula, and 49.7% in formula-only feeding. Colic symptoms improved by administering hydrolyzed formula (87.5%), low-lactose formula (47.1%), galactosidase (44.4%), and the probiotic Lactobacillus reuteri (34.5%). CONCLUSION: The prevalence of infantile colic was over 30%. Prematurity, lower birth weight, and small for gestational age were the risk factors of infantile colic. Clinical improvement was observed when active intervention was performed.

Identification of a Novel GLA Mutation (L206 P) in a Patient with Fabry Disease

We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39. Electrocardiographic and echocardiographic examination showed left ventricular hypertrophy. A physical examination revealed proteinuria without hematuria. The patient's plasma αGal-A activity was markedly lower than the mean value of the controls. After genetic counseling and obtaining written informed consent, we identified one hemizygous mutation in exon 4 of galactosidase alpha, c.617T>C (p.Leu206 Pro). He was eventually diagnosed as having Fabry disease.

Peptide: N- glycanase is expressed in prestalk cells and plays a role in the differentiation of prespore cells during development of Dictyostelium discoideum.

Peptide: N- glycanase (PNGase) enzyme is found throughout eukaryotes and plays an important role in the misfolded glycoprotein degradation pathway. This communication reports the expression patterns of the pngase transcript (as studied by the analysis of β- galactosidase reporter driven by the putative pngase promoter) and protein (as studied by the analysis of β- galactosidase reporter expressed under the putative pngase promoter as a fusion with the pngase ORF) during development and further elucidated the developmental defects of the cells lacking PNGase (png-). The results show that the DdPNGase is an essential protein expressed throughout development and β- galactosidase activity was present in the anterior part of the slug. In structures derived from a null mutant for pngase, the prestalk A and AO patterning was expanded and covered a large section of the prespore region of the slugs. When developed as chimeras with wild type, the png- cells preferentially populate the prestalk/stalk region. When the mutants were mixed in higher ratios, they also tend to form the prespore/spore cells. The results emphasize that the DdPNGase has an essential role during development and the mutants have defects in a system that changes the physiological dynamics in the prespore cells. DdPNGase play a role in development both during aggregation and in the differentiation of prespore cells.

Occupational asthma induced by beat-galactosidase

Galactosidase is generated from Aspergillus oryzae, which is widely used for antidiarrhea medicine to infants. Antibiotics and digestives were reported as a causative allergen inducing occupational asthma. Galatosidase-induced occupational asthma has not been reported yet. A forty-year-old female has suffered from rhinorrhea, sneezing, and nasal obstruction 1 year after handling galactosidase at obstetric and pediatric hospital, and then dyspnea appeared later. Skin prick test with inhalent allergens, beta-galactosidase, and Aspergillus oryzae showed strong positive reaction to beta-galactosidase only. Immunoinhibition test with beta-galactosidase and A. oryzae revealed inhibition to beta-galactosidase only. Bronchial provocation test with beta-galactosidase showed the dual asthmatic response. With these results, we confirmed that the patient has beta-galactosidase-induced occupational asthma and rhinitis.

Population analysis of the GLB1 gene in South Brazil

Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2 percent and 38.5 percent, respectively. The frequency of polymorphism S532G was 16.7 percent, whereas R521C was not found in the patients. The overall frequency of either R59H or 1622-1627insG was 57.7 percent of the disease-causing alleles. This epidemiological study suggested a carrier frequency of 1:58. Seven different haplotypes were found. The 1622-1627insG mutation was not found to be linked to any polymorphism, whereas linkage disequilibrium was found for haplotype 2 (R59H, S532G) (p < 0.001). These data confirm the high incidence of GM1 gangliosidosis and the high frequency of two common mutations in southern Brazil.

Biochemical evaluation of the protective impact of silymarin against cyclophosphamide- induced hepatotoxicity in rats

This study was designed to investigate the ameliorative effect of silymarin on the hepatotoxicity induced by cyclophosphamide [CP] in female albino rats. The results revealed that cyclophosphamide induced marked increase in relative liver weight and serum levels of ALT, AST and decrease in serum albumin level which were normalized by silymarin administration. Pretreatment with silymarin significantly attenuated cyclophosphamide-induced increases in malondialdehyde [MDA] in the liver homogenate. The results revealed that the activities of lysosomal enzymes acid phosphatase [ACP], beta-N-acetyl glucosaminidase [beta-NAG] and beta- galactosidase [beta-GAL] were increased significantly in CP-treated animals while pretreatment by silymarin caused marked attenuation in the increased activities of the three enzymes. Cyclophosphamide significantly decreased reduced glutathione [GSH], glutathione-s-transferase [GST] and glutathione reductase [GR] levels in the liver homogenate, while pretreatment with silymarin blunted the decreased levels of GSH,GST and GR. Our results revealed the potential hepatoprotective effect of silymarin against cyclophosphamide-induced hepatotoxicity. So, it may be worthy to consider the beneficial use of silymarin as supplement with cyclophosphamide therapy

Optimization of b-galactosidase production using Kluyveromyces lactis NRRL Y-8279 by response surface methodology

This paper investigates the production and optimization of b-galactosidase enzyme using synthetic medium by Kluyveromyces lactis NRRL Y-8279 in shake flask cultures. Among the different cell disintegration methods used, the highest specific activity was obtained when the cells were permeabilized using isoamyl alcohol. Response surface methodology was used to investigate the effects of four fermentation parameters (agitation speed, pH, initial substrate concentration and incubation time) on b-galactosidase enzyme production. Results of the statistical analysis showed that the fit of the model was good in all cases. Maximum specific enzyme activity of 4218.4 U g-1 was obtained at the optimum levels of process variables (pH 7.35, agitation speed 179.2 rpm, initial sugar concentration 24.9 g l-1 and incubation time 50.9 hrs). The response surface methodology was found to be useful in optimizing and determining the interactions among process variables in b-galactosidase enzyme production.

Removal of alpha-Gal Epitopes in Aortic Valve and Pericardium ofPig Using Green Coffee Bean alpha-Galactosidase / 대한흉부외과학회지

BACKGROUND: It is currently thought that tissue valve degeneration is related to an animal's immune response, which is mainly due to cell surface alpha-Gal epitopes. Cell surface alpha-Gal epitopes are known to be degraded by the enzyme called green coffee bean alpha-galactosidase. It is also well known that alpha-Gal epitopes are immunologically stained by Griffonia Simplicifolia isolectin type B4. We know that many commercially available tissue valves are made of aortic valves and pericardial tissue of pig. So, we investigated whether alpha-Gal epitopes of the aortic valve and pericardial tissue of a pig can be removed by green coffee bean alpha-galactosidase, and we did so by comparing immunologic staining of the tissues before and after the enzyme treatment. MATERIAL AND METHOD: After treating fresh porcine aortic valve and pericardial tissue with green coffee bean alpha-galactosidase at concentrations of 0.5 unit/mL, 1.0 unit/mL, 2.0 unit/mL, respectively, under the condition of pH 6.5, temperature 4degrees C and 24 hours of incubation, each sample was stained with Griffonia Simplicifolia isolectin type B4 immunofluorescent labeling. We then examined whether the alpha-Gal epitopes were reduced or abolished in each consecutive concentration of green coffee bean alpha-galactosidase by comparing the degree of the Griffonia Simplicifolia isolectin B4 staining in each sample. RESULT: In the pig aortic valve tissue, a 1.0 unit/mL concentration of green coffee bean alpha-galactosidase at pH 6.5, 4degrees C and reaction for 24 hours was enough for complete removal of alpha-Gal epitopes from the cell surface on the immunostaining with Griffonia Simplicifolia isolectin B4. On the other hand, more alpha-Gal epitopes were present in the pig pericardial tissue on Griffonia Simplicifolia isolectin B4 staining before the enzyme treatment, and 1.0 unit/mL of galactosidase was not sufficient for complete removal of alpha-Gal from the tissue. 2.0 units/mL of green coffee bean alpha-galactosidase was needed to completely remove the alpha-Gal epitopes from the pericardial tissue on immunostaining. CONCLUSION: The alpha-Gal epitopes of the pig's aortic valve and pericardial tissue were successfully stained with Griffonia Simplicifolia isolectin B4. We could remove nearly all the alpha-Gal epitopes using green coffee bean alpha-galactosidase at the concentration of 1.0 unit/mL in the aortic valve of pig, and 2.0 unit/mL was need to nearly completely remove all the alpha-Gal epitopes in the pericardial tissue of pig under the condition of pH 6.5, 4degrees C and 24 hours of reaction time. In the near future, removal of alpha-Gal epitopes in the pig's aortic valve and pericardial tissue will become a powerful tool for the improvement of the tissue valve durability. It needs to be determined if alpha-galactosidase treated pig tissue is immune to human anti-Gal antibody or anti-Gal monoclonal antibodies.

Effect of inducers on growth inhibitory activity of ortho-nitrophenylgalagtopyranoside

The presence of a specific substrate will often induce or increase the enzymatic activity of cells towards that substrate. Cohen and Monod studied the transport of lactose [glucose- beta -D-galactoside] into Escherichia coli cells and postulated that the presence of an enzyme beta -galactosidase was required for its intracellular hydrolysis. Ortho-Nitrophenylgalactoporanoside [ONPG] and analogue of lactose was used in this study, since one can measure its transport into the cell as a consequence of its hydrolysis by an intracellular enzyme, beta -galactosidase. In order to relate the effect of ONPG on biochemical event to its bacteriostatic activity, the growth-inhibitory activity of this compound against Escherichia coli was investigated in the presence and absence of two inducers for beta -galctosidase enzyme namely, lactose and isopropyl thio- beta -D-galactosidase [IPTG]. In the presence of 1% lactose as an inducer, ONPG was shown to be more effective in exercising an inhibitory activity even at low concentration. On the other hand, the growth inhibitory activity of ONPG increase in dramatically in the presence of 3.5mM IPTG as an inducer

Las ß-galactosidasas y la dinámica de la pared celular / ß-galactosidases and cell wall dynamics

La pared celular es crucial en la determinación del crecimiento y desarrollo de la célula vegetal. En la mayoría de las angiospermas existen muchos glucanos entrelazados sobre una infraestructura de celulosa. El monosacárido galactosa es un constituyente clave de la mayor parte de los polisacáridos no celulósicos en las paredes celulares vegetales: fucogalacto-xiloglucanos, cadenas de (1®3), (1®6)b-D-galactano tipo II, proteínas con arabinogalactanos, (1®4)b-D-galactanos y los arabinogalactanos tipo I. Cada uno de estos componentes exhibe un metabolismo diferente durante etapas específicas del crecimiento y desarrollo celular. Por ejemplo, se han observado alteraciones durante el ensamblaje o remodelación de la pared celular a través de la hidrólisis de galactósidos o galactanos de la pared, que ocurren antecediendo ciertos eventos del desarrollo, tales como el inicio de la maduración de los frutos y el inicio de la formación de haces fibrosos en lino. No se han encontrado endo-galactanasas en plantas, por lo que se responsabiliza a las exo-galactanasas/b-galactosidasas por la hidrólisis de todos los polímeros que contienen galactosa en la pared celular. Esta revisión examina los polímeros que contienen galactosa en la pared celular y propone una función y rol biológico para las b-galactosidasas vegetales en el contexto de la dinámica del crecimiento celular

Improvement of SCP production and BOD removal of whey with mixed yeast culture

This research emphasizes on single cell protein (SCP) production and Biochemical Oxygen Demand (BOD) removal from whey with mixed yeast culture. For this purpose, 11 yeast strains were isolated from dairy products (M1-M11) and the strains were identified by morphological and physiological properties. These yeast strains were tested for their ability to reduce the BOD and to produce SCP from whey. Among these strains, K. lactis (M2) had the most SCP production from whey with the yield of 11.79 g/l. Ammonium sulphate as nitrogen source had an increasing effect on biomass yield. The mixed culture of the isolated yeast strains with Saccharomyces cerevisiae was used in order to increase the biomass yield and BOD removal. The highest biomass yield (22.38 g/l) and reduction of initial BOD from 30000 to 3450 mg/l were obtained with the mixed culture of K. lactis (M2) and S. cerevisiae.

Heterologous Regulation of BCG hsp65 Promoter by M. leprae 18 kDa Transcription Repression Responsive Element

Among a number of antigens characterized in M. leprae, an etiological agent of Leprosy, the 18 kDa antigen, is unique to M. leprae. We have previously determined a sequence specific element in the 18 kDa gene of M. leprae, which confers transcriptional repression. In this report, we have examined if the element could be applied to genes other than the 18 kDa gene of M. leprae. To identify the roles of the regulatory sequence in heterologous promoter, we have constructed pB3 vector series, which contains BCG hsp65 promoter and the M. leprae 18 kDa transcription repression responsive element in tandem using LacZ gene as a reporter gene. Cloning of hsp65 promoters of M. bovis BCG or M. smegmatis in front of LacZ gene resulted in normal beta- galactosidase activity as expected. However, when the sequence element was placed between the promoter and the LacZ gene, beta-galactosidase activity was reduced 10-fold less. Also we have examined with pB3(-) vector, that harbors the transcription repression responsive element in a reversed orientation, the beta-galactosidase activity was found to be similar to pB3(+) vector. Thus, these results further confirm that M. leprae 18 kDa transcription repression responsive element could regulate BCG hsp65 heterologous promoter and that the element could act as an operator for the transcription of mycobacteria.

Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - First case in Brazil

Apresentamos o primeiro caso de galactosialidose do tipo infantil precoce identificado entre a populaçäo brasileira, uma grave e rara doença de depósito lisossomal, com apenas 12 casos claramente descritos mundialmente. Estudos clínicos, patológicos e bioquímicos realizados foram consistentes com os dados já publicados na literatura científica. Detectamos a doença em uma menina de 7 meses de idade, com diagnóstico de ascite no período pré-natal e evoluçäo compatível com doença de depósito, através da cromatografia em camada fina para oligossacarídeos, que é parte integrante do programa de triagem para erros inatos do metabolismo (EIM) em crianças de alto risco, realizado no Estado do Rio de Janeiro.

A Case of Renal Transplantation in A Patient with Fabry's Disease / 대한이식학회지

Fabry's disease is a rare, inborn error, sex-linked disorder of glycosphingolipid metabolism with death occurring from myocardial or renal involvement at 4th or 5th decades. The primary metabolic defect lies in the deficient tissue activity of the enzyme alpha-galactosidase A which results in progressive accumulation of the specific neutral glycosphingolipids, cerebroside dihexoside(CDH) and cerebroside triihexoside(CTH), within the lysosomes of endothelial, perithelial and smooth muscle cells of the cardiovascular and renal systems predominantly. Clinical manifestations are sequelae of the anatomic and physiologic alterations produced by the progressive deposition of glycosphingolipid in the tissues. We report the first case of successful renal transplantation in a patient with Fabry's disease in Korea. The patient was a 33-year-old male. Fabry's disease was confirmed by measurement of serum alpha- galactosidase level and renal biopsy. Biopsy finding showed lamellar inclusion bodies on electron microscopy. Galactosidase activity was also markedly decreased. He has been well for 49 months.

A Case of Renal Transplantation in A Patient with Fabry's Disease / 대한이식학회지

Fabry's disease is a rare, inborn error, sex-linked disorder of glycosphingolipid metabolism with death occurring from myocardial or renal involvement at 4th or 5th decades. The primary metabolic defect lies in the deficient tissue activity of the enzyme alpha-galactosidase A which results in progressive accumulation of the specific neutral glycosphingolipids, cerebroside dihexoside(CDH) and cerebroside triihexoside(CTH), within the lysosomes of endothelial, perithelial and smooth muscle cells of the cardiovascular and renal systems predominantly. Clinical manifestations are sequelae of the anatomic and physiologic alterations produced by the progressive deposition of glycosphingolipid in the tissues. We report the first case of successful renal transplantation in a patient with Fabry's disease in Korea. The patient was a 33-year-old male. Fabry's disease was confirmed by measurement of serum alpha- galactosidase level and renal biopsy. Biopsy finding showed lamellar inclusion bodies on electron microscopy. Galactosidase activity was also markedly decreased. He has been well for 49 months.

Evaluation of a single tube medium, Y-nitrophenyl-phi-D galactopyranoside phenylalanine motility sulphate for screening pathogenic members of the family enterobacteraceae

Identification of members of the Enterobacteriaceae requires the application of biochemical tests before serological confirmation. Of the important tests in such a setting are ONPG, phenylalanine deaminase, motility, H2S and indole production. ONPG-PA-M sulfate medium is a semisolid medium in which all these reactions can be detected. The present study evaluated this medium for detecting such reactions in comparison to the diagnostic set in the microbiology lab [TSI, MIO and urease] and the standard API 20-E system for enterobacteria were evaluated. The reactions of 192 gram negative isolates from stool and other clinical specimens [urine, pus and sputum] as well as 63 control strains were compared. All tested strain showed identical reactions in the three sets, except for a missed positive ONPG reaction in the ONPGPA-M sulfate medium [by an atypical E. coli] and two missed H2S production in the TSI that were detected by the single tube medium [one E. coli and one Cit. freundii]. The ONPGPA-M sulfate medium appeared to be a reliable in assessing these reactions and even superior to TSI in detecting H2S, in addition to the cost reduction achieved by performing all these tests in a single tube. Thus, its use in routine microbiology laboratories was recommended

Gangliosidosis GM1 Tipo I: forma infantil / Gangliosidosis GM1 Type I: infantile form

Se presenta un caso de Gangliosidosis GM1, tipo I, de diagnóstico tardío para llamar la atención sobre una enfermedad hereditaria. Se trata de una lactante de sexo femenino que a pesar de presentar los signos principales de la enfermedad no fue reconocida tempranamente. El diagnóstico se confirmó a los 6 meses por dosificación de la enzima beta-galactosidasa lisosomal en leucocitos. Se destaca la falla de la atención primaria y la necesidad de un diagnóstico seguro para poder realizar un adecuado consejo genético

Efecto de la aspirina, cafeina y diazepam sobre la actividad de la glucosa 6 fosfatasa, succinico deshidrogenasa y beta galactosidasa acida en la placenta humana / Effect os aspirin, caffeine and diazepam on glucose 6-phosphatase, succinic dehydrogenase, and acid-galactosidase in human placenta

Se estudio "in vitro" la actividad enzimatica de la beta galactosidasa acida, glucosa 6 fosfatasa y succinico deshidrogenasa para determinar si se afectaban en presencia de aspirina, cafeina y diazepam en homogeneizado total de placenta humana. Se utilizaron dosis de 10, 50 y 100 /ml de cada farmaco, y se determino si existia diferencia significativa en ausencia de los farmacos y en presencia de los mismos mediante la prueba t de Student para series apareadas. En todas las concentraciones de los tres farmacos la beta galactosidasa acida presento un aumento altamente significativo. La glucosa 6 fosfatasa y la succinico deshidrogenasa tuvieron una disminucion altamente significativa, aunque en esta ultima la disminucion fue solosignificativa con la dosis mas pequena. Se concluye que la presencia de aspirina, cafeina y diazepam produce alteraciones en la actividad de las enzimas estudiadas que pueden provocar trastornos del metabolismo placentario

study of glycosaminoglycans and some lysosomal enzymes in the serum and synovial fluid in osteoarthritis

The study was done on 25 patients with osteoarthritis as well as 25 healthy persons as a control group. Determination of serum beta-glucuronidase, beta-galactosidase and aryl sulfatase activities as well as serum concentration of glycosaminogylcans and glucuronic acid were done in both groups. The same parameters were determined in the synovial fluid of the patients only. There were significant increase of serum beta-glucuronidase activities, aryl sulfatase activities and glucuronic acid concentration in osteoarthritic patients as compared to control group. There was a significant decrease of serum glycosaminoglycan in osteoarthritic patients as compared to control group. But there was no significant change of beta-glactosidase activities

Study of fibroblast and leucocyte beta-galactosidase activity in a family with multiple cases of GM1 gangliosidosis

Através do estudo de uma família com diversos casos de gangliosidose GM1, nos propusemos a identificar indivíduos heterozigotos através da medida da atividade da enzima beta-galactosidase em fibroblastos cultivados e a testar a possibilidade desta identificaçäo também em leucócitos. pelos resultados obtidos em fibroblastos, e considerando os dados da historia familiar, foi possível especular qual o provável genótipo de cada indivíduo da amostra. Foi também possível estimar o valor médio da atividade enzimática dos heterozigotos desta genealogia e a amplitude aproximada deste valor. Em leucocitos a atividade da beta-galactosidase esteve muito dispersa e näo apresentou correlaçäo com a observada em leucocitos. Concluimos assim, que a determinaçäo da atividade da beta-galactosidase em fibroblastos parece ser um meio viável para a identificaçäo de heterozigotos dentro de um contexto familiar apropriado, o que näo parece ser verdadeiro para leucócitos. No entanto, dados mais conclusivos dependem do estudo de um maior número de indivíduos normais e de heterozigotos, provenientes de diversas famílias näo relacionadas