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1.
Clin Appl Thromb Hemost ; 24(2): 348-352, 2018 Mar.
Article in English | MEDLINE | ID: mdl-28030968

ABSTRACT

Increased thrombophilic tendency in patients with cystic fibrosis (CF) has recently been reported. The determinants of thrombosis in children with CF remain largely unknown. Our aim in this study was to evaluate the thromboelastography (TEG) profile of children with CF through ROTEM (whole blood rotation thromboelastometry). Nineteen patients with CF and 20 controls were included in the study. Whole blood count, prothrombin time, activated prothrombin time, fibrinogen, d-dimer levels, and ROTEM assays (INTEM, EXTEM) were performed. Clotting time, clot formation time (CFT), and maximum clot firmness (MCF) were determined by INTEM and EXTEM analysis. In INTEM assay, MCF ( P = .001) value was significantly increased and CFT ( P = .031) value was decreased in patients with CF compared with those of the control group. In the EXTEM assay, there was a similar significant increase in MCF ( P = .023) value in patients with CF compared with that of the control group. There was a significant positive correlation between fibrinogen levels and MCF in EXTEM ( r = .72) and INTEM ( r = .76) assays, whereas there was a negative correlation with CFT in EXTEM ( r = -.61) and INTEM ( r = -.67). The results of our study indicated that TEG profiles in patients with CF were more hypercoagulable compared with those of the control group.


Subject(s)
Cystic Fibrosis/blood , Thrombelastography/methods , Thrombophilia/diagnosis , Adolescent , Blood Coagulation Tests , Case-Control Studies , Child , Child, Preschool , Female , Fibrinogen/analysis , Humans , Male
2.
Arch. argent. pediatr ; 115(2): 125-132, abr. 2017. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-838338

ABSTRACT

Objetivo. Evaluar la eficacia del receptor soluble de transferrina (RST) en el diagnóstico de la anemia ferropénica (AF) y en la evaluación de la respuesta al hierro en los lactantes con desnutrición aguda moderada (DAM). Población y métodos. Se reclutó a lactantes con valores de hemoglobina (Hb) inferiores a los valores umbrales de anemia para su edad y con anemia hipocrómica/microcítica observada en el frotis de sangre periférica. La DAM se definió como un puntaje Z de peso/estatura de entre < -2 y -3. Se compararon los valores del hemograma, los parámetros férricos y el RST entre 41 lactantes con DAM y anemia (grupo DA), 32 lactantes con anemia sin DAM (grupo A) y controles saludables (n= 30). Una vez completado el tratamiento de la anemia y la desnutrición, se repitieron las evaluaciones. Resultados. Además de los índices hematológicos compatibles con AF, los valores de hierro sérico (Fe) y saturación de transferrina (ST) eran significativamente menores, mientras que el valor de transferrina era significativamente mayor en los grupos DA y A en comparación con los controles (p < 0,001). Los valores de ferritina y proteína C-reactiva (PCR) eran significativamente más elevados en el grupo DA (p < 0,05 para la ferritina, p < 0,01 para la PCR). El valor medio del RST fue similar en ambos grupos (DA y A) (p > 0,05) y significativamente mayor que en los controles (p < 0,001). Después del tratamiento con hierro, el RST disminuyó en los grupos DA y A (p < 0,001) a valores similares a los observados en los controles. El RST se correlacionó negativamente con la Hb durante todo el estudio (grupo DA: r= -0,350, p < 0,05; grupo A: r= -0,683, p < 0,01). Conclusiones. Dado que los valores del RST en los grupos DA y A disminuyeron después del tratamiento con hierro, consideramos que este parámetro no estuvo afectado por la DAM ni la inflamación y puede usarse, por sí solo, para detectar la AF y supervisar la respuesta al tratamiento en los lactantes con DAM.


Objective. To evaluate the efficacy of soluble transferrin receptor (sTfR) in diagnosing iron deficiency anemia (IDA) and evaluating iron response in infants with moderate acute malnutrition (MAM). Population and methods. Infants withhemoglobin (Hb) levels lower than threshold values for anemia for their ages and hypochromic/ microcytic anemia on peripheral smear were recruited. MAM was defined as weight/height z score < -2 to -3. Complete blood count (CBC), iron parameters and sTfR were compared among 41 infants with MAM and anemia (MA group), 32 infants with anemia without MAM (group A), and healthy controls (n= 30). Following anemia and malnutrition treatment, tests were repeated. Results. Besides hematological indices compatible with IDA, serum iron (Fe) and transferrin saturation (TS) were significantly lower, while transferrin was significantly higher in MA and A groups compared to controls (p <0.001). Ferritin and C-reactive protein (CRP) were significantly higher in MA group (p <0.05 ferritin, p <0.01 for CRP). Mean sTfR was similar in both MA and A groups (p >0.05) and significantly higher than controls (p <0.001). Following iron treatment, sTfR decreased inboth MA and A groups (p <0.001) to similar values as controls. sTfR was negatively correlated to Hb throughout the study (for MA group, r= -0.350, p <0.05; for A group, r= -0.683, p <0.01). Conclusions. As sTfR values in both MA and A groups decreased following iron treatment, we believe that this parameter was not influenced by MAM or inflammation; and it alone can be used to detect IDA and monitor treatment response in infants with MAM.


Subject(s)
Humans , Male , Female , Infant , Receptors, Transferrin/blood , Anemia, Iron-Deficiency/drug therapy , Anemia, Iron-Deficiency/blood , Malnutrition/blood , Iron/therapeutic use , Severity of Illness Index , Prospective Studies , Treatment Outcome , Anemia, Iron-Deficiency/complications , Anemia, Iron-Deficiency/diagnosis , Malnutrition/complications , Malnutrition/therapy
3.
Arch Argent Pediatr ; 115(2): 125-132, 2017 04 01.
Article in English, Spanish | MEDLINE | ID: mdl-28318177

ABSTRACT

OBJECTIVE: To evaluate the efficacy of soluble transferrin receptor (sTfR) in diagnosing iron deficiency anemia (IDA) and evaluating iron response in infants with moderate acute malnutrition (MAM). POPULATION AND METHODS: Infants with hemoglobin (Hb) levels lower than threshold values for anemia for their ages and hypochromic/ microcytic anemia on peripheral smear were recruited. MAM was defined as weight/height z score < -2 to -3. Complete blood count (CBC), iron parameters and sTfR were compared among 41 infants with MAM and anemia (MA group), 32 infants with anemia without MAM (group A), and healthy controls (n= 30). Following anemia and malnutrition treatment, tests were repeated. RESULTS: Besides hematological indices compatible with IDA, serum iron (Fe) and transferrin saturation (TS) were significantly lower, while transferrin was significantly higher in MA and A groups compared to controls (p <0.001). Ferritin and C-reactive protein (CRP) were significantly higher in MA group (p <0.05 ferritin, p 0.01 for CRP). Mean sTfR was similar in both MA and A groups (p >0.05) and significantly higher than controls (p <0.001). Following iron treatment, sTfR decreased in both MA and A groups (p <0.001) to similar values as controls. sTfR was negatively correlated to Hb throughout the study (for MA group, r= -0.350, p <0.05; for A group, r= -0.683, p <0.01). CONCLUSIONS: As sTfR values in both MA and A groups decreased following iron treatment, we believe that this parameter was not influenced by MAM or inflammation; and it alone can be used to detect IDA and monitor treatment response in infants with MAM.


Evaluar la eficacia del receptor soluble de transferrina (RST) en el diagnóstico de la anemia ferropénica (AF) y en la evaluación de la respuesta al hierro en los lactantes con desnutrición aguda moderada (DAM).


Subject(s)
Anemia, Iron-Deficiency/blood , Anemia, Iron-Deficiency/drug therapy , Iron/therapeutic use , Malnutrition/blood , Receptors, Transferrin/blood , Acute Disease , Anemia, Iron-Deficiency/complications , Anemia, Iron-Deficiency/diagnosis , Child, Preschool , Female , Humans , Infant , Male , Malnutrition/complications , Malnutrition/therapy , Prospective Studies , Severity of Illness Index , Treatment Outcome
4.
Turk J Pediatr ; 59(4): 471-474, 2017.
Article in English | MEDLINE | ID: mdl-29624230

ABSTRACT

Kiliç-Yildirim G, Durmus-Aydogdu S, Ceylaner S, Sass JO. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. Turk J Pediatr 2017; 59: 471-474. Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase, MAT or T2 deficiency) is a rare autosomal recessive disorder of isoleucine and ketone body metabolism due to acetyl-CoA acetyltransferase-1 (ACAT1) gene mutations. The disease is characterized by recurrent episodes of ketoasidosis which starts with vomiting and followed by dehydration and tachypnea. Here, we present a patient who was admitted to the hospital with severe acidosis and dehydration because of vomiting induced by protein rich nutrient and was diagnosed with MAT deficiency. 3-hydroxy-butyric acid, acetoacetic acid and 3-hydroxy-iso-valeric acid levels were significantly increased and tiglyglycine as trace amount in the urine organic acid analysis of the patient. Genetic analysis for ACAT-1 showed compound heterozygosity for the mutations c.949G > A (p.D317N) and c.951C > T (p.D317D), which both are known to cause exon 10 skipping and to be pathogenic missense mutations.


Subject(s)
Acetyl-CoA C-Acyltransferase/deficiency , Amino Acid Metabolism, Inborn Errors/diagnosis , Ketosis/etiology , Acetyl-CoA C-Acetyltransferase/genetics , Humans , Infant , Male , Mutation, Missense , Recurrence
5.
Turk Pediatri Ars ; 52(4): 226-230, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29483803

ABSTRACT

Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to homozygous or compound heterozygous inactivating mutations in the insulin receptor gene. A female newborn presented with lack of subcutaneous fat tissue, bilateral simian creases, hypertrichosis, especially on her face, gingival hypertrophy, cliteromegaly, and prominent nipples. Her laboratory tests revealed hyperandrogenism, postprandial hyperglycemia and preprandial hypoglycemia, and very high concurrent insulin levels. She was diagnosed as having Donohue syndrome. Metformin and continuous nasogastric feeding were administrated. During follow-up, relatively good glycemic control was obtained. However, severe hypertrophic obstructive cardiomyopathy and severe malnutrition developed. She died aged 75 days of severe heart failure and pneumonia. Her insulin receptors gene analysis revealed a compound heterozygous mutation. One of these mutations was a p.R813 (c.2437C>T) mutation, which was defined previously and shown also in her father, the other mutation was a novel p.777-790delVAAFPNTSSTSVPT mutation, also shown in her mother. The parents were heterozygous for these mutations.

9.
Eur J Pediatr ; 170(10): 1273-80, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21384109

ABSTRACT

The aim of this study was to evaluate the changes in the ghrelin, leptin, and fat levels in the foremilk and hindmilk and the possible relationship between these levels with the age and growth of term healthy infants. Sixty-two babies were subdivided (according to their nutrition) into breastfed (BF), formula-fed (FF), and BF plus FF (BF + FF) groups. The total and active ghrelin and tryglyceride levels and the total cholesterol levels in the foremilk and hindmilk were studied at the first and second visits (mean of the second and fifth months, respectively). At both visits, the total and active ghrelin and the total cholesterol levels were lower in the hindmilk than in the foremilk. However, the triglyceride levels were higher in the hindmilk than in the foremilk (p < 0.001). The leptin levels were also higher in the hindmilk, but this difference was not statistically significant. At the second visit, the mean total foremilk ghrelin (p < 0.01), leptin (p < 0.05), tryglyceride (p < 0.001), and cholesterol (p < 0.01) levels in the BF group were decreased compared with the levels at the first visit, whereas the active ghrelin levels increased (p < 0.001). At the second visit, we observed a 3.5% increase in the body mass index in BF infants, a 14.6% increase in FF infants, and an 11.8% increase in BF + FF infants (p < 0.01). The foremilk leptin levels were lower in the BF + FF group than in the BF group at both visits. In conclusion, at the first and second visits, the decreased ghrelin and increased tryglyceride and leptin levels in the hindmilk might be associated with the important role of self-control when feeding BF infants. The stable content of formulas might be associated with a lack of self-control during feeding and increased nutrition. Changing the breast milk ghrelin, leptin, and fat levels between the foremilk and hindmilk and between the first and second visits might explain the differences in the weight gain patterns of BF and FF infants.


Subject(s)
Breast Feeding , Colostrum/chemistry , Fatty Acids/analysis , Ghrelin/analysis , Leptin/analysis , Milk, Human/chemistry , Body Weight , Child Development , Colostrum/metabolism , Female , Humans , Infant , Infant Food/analysis , Lactation , Milk, Human/metabolism , Pregnancy
10.
Eur J Pediatr ; 170(7): 873-7, 2011 Jul.
Article in English | MEDLINE | ID: mdl-21140275

ABSTRACT

Recent reports have demonstrated elevated serum homocysteine (Hcy) levels in children receiving valproic acid (VPA) therapy. Elevated Hcy levels might play a potential role in the resistance to antiepileptic drugs, and might lead to an increased risk for a vascular disease. It has been reported that elevated total homocysteine (tHcy) levels are associated with elevated asymmetric dimethylarginine (ADMA) levels, which are factors that may be better indicators of endothelial dysfunction compared to serum homocysteine levels, because they are less sensitive to changes, such as fasting status, physical activity, and other factors. In this study, we aim to evaluate serum ADMA, Hcy, lipid, folate, and vitamin B12 levels in epileptic children, receiving VPA monotherapy. Forty-four epileptic children, receiving VPA monotherapy for at least 6 months and 28 healthy children aged between 4 and 16 years, were recruited. Serum lipids, lipoproteins, folate, vitamin B12, Hcy, and ADMA levels were analyzed in both study groups. Serum Hcy, ADMA, and vitamin B12 levels were higher in patients than in controls (p < 0.001 for tHcy and ADMA levels; p < 0.05 for vitamin B12 levels); however, serum lipid, lipoprotein, and folate levels were similar. According to the duration of epilepsy, serum tHcy, ADMA, and triglyceride (TG) levels were higher in patients with epilepsy for ≥ 2 years than in patients with epilepsy for < 2 years (p < 0.001 for serum ADMA levels, p < 0.01 for tHcy levels, and p < 0.05 for serum TG levels). Similarly, with respect to the duration of VPA therapy, serum tHcy, ADMA, and TG levels were higher in patients who had received VPA therapy for more than 2 years (p < 0.001 for serum ADMA levels, p < 0.05 for serum tHcy levels, p < 0.01 for TG levels). Serum ADMA levels were significantly higher in patients receiving VPA at the dose of 25-30 mg/kg/day than in those receiving 20 mg/kg/day (p < 0.01). In conclusion, our study found increased serum ADMA levels and increased tHcy levels in epileptic children receiving VPA monotherapy. Increased serum ADMA levels were demonstrated in epileptic children who have had a seizure history greater than 2 years, and have used VPA therapy for more than 2 years, and have received higher doses of VPA. Routine monitoring of serum ADMA and tHcy levels might have beneficial effects for patients receiving long-term VPA therapy, especially in children who have other potential risk factors for vascular diseases. Further studies are needed to investigate serum ADMA and Hcy levels, and the presence of vascular disease, as well as the potential interactions between serum ADMA levels and seizure control.


Subject(s)
Anticonvulsants/therapeutic use , Arginine/analogs & derivatives , Epilepsy/drug therapy , Homocysteine/blood , Lipids/blood , Valproic Acid/therapeutic use , Vitamin B Complex/blood , Adolescent , Anticonvulsants/pharmacology , Arginine/blood , Biomarkers/blood , Case-Control Studies , Child , Child, Preschool , Cholesterol/blood , Cross-Sectional Studies , Drug Administration Schedule , Epilepsy/blood , Female , Folic Acid/blood , Humans , Male , Triglycerides/blood , Valproic Acid/pharmacology , Vitamin B 12/blood
12.
Scand J Infect Dis ; 41(4): 263-7, 2009.
Article in English | MEDLINE | ID: mdl-19221931

ABSTRACT

Serum lipids/lipoproteins were assayed to evaluate the diagnostic values of serum lipids/ lipoproteins in neonatal late onset sepsis (NLS) in 36 episodes of NLS (15 of the 36 in preterm newborns and 21 of the 36 in term newborns) while 36 healthy newborns were used as controls. On d 0, levels of total cholesterol (TC), triglyceride (TG), lipoprotein-a (Lp-a), high-density lipoprotein (HDL) and apolipoprotein-A (Apo-A) and B (Apo-B) were found to be significantly lower in the NLS group than in the control group (p=0.001). The sensitivity and specificity values were 61.5% and 69.4% for TC, 96.2% and 44.4% for HDL, 73% and 50% for Lp-a, 69.2% and 83.3% for triglyceride, 73% and 97.2% for Apo-A and 77% and 69.4% for Apo-B, respectively, at diagnosis. In conclusion, Apo-A appeared to be a useful marker for detection of NLS. Low TG levels may be due to impaired triglyceride-related neutralization of lipopolysaccharides in NLS.


Subject(s)
Infant, Premature , Lipoproteins/blood , Sepsis/diagnosis , Apolipoproteins B/blood , Biomarkers/blood , Female , Humans , Infant, Newborn , Male , Prospective Studies , Sepsis/blood
13.
Scand J Urol Nephrol ; 43(2): 138-41, 2009.
Article in English | MEDLINE | ID: mdl-19096983

ABSTRACT

OBJECTIVE: Cystinuria is an inherited transport disorder due to defects in intestinal and renal transport of cystine and dibasic amino acids. Early diagnosis is required for some general and specific treatments because cystinuric patients have an increased risk of recurrent urinary stone formation. The prevalence of cystinuria varies widely in different countries. The aim of this study is to determine the prevalence of cystinuria among schoolchildren in Eskisehir, a central Anatolian city in Turkey. MATERIAL AND METHODS: The sodium cyanide-nitroprusside spot test was applied to the first morning urine samples from 8260 schoolchildren (4087 female, 4173 male, aged between 6 and 12 years). Urine and blood amino acids were determined with paper chromatography and special cystine-homocystine chromatography were performed if a child had a positive spot-test result. Urinary cystine levels of two children were measured quantitatively. RESULTS: Spot-test results were positive in four students. Increased levels of cystine and dibasic amino acids in the urine were determined with paper chromatography and cystine spots were also detected with special cystine-homocystine chromatography for these four students. Urinary cystine levels were elevated in two children whose urine could be studied. The prevalence of cystinuria in this study was 1:2065. There was no history or symptoms related to urolithiasis in these students. CONCLUSION: The prevalence of cystinuria in this study is higher than many other countries. Patients in Turkey with urinary stones or with symptoms related to urolithiasis must also be investigated for cystinuria.


Subject(s)
Cystinuria/epidemiology , Child , Cystinuria/diagnosis , Female , Humans , Male , Prevalence , Turkey/epidemiology
14.
Neuro Endocrinol Lett ; 28(3): 279-83, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17627262

ABSTRACT

In this study we aimed to evaluate serum insulin-like growth factor-1 (IGF-1), insulin-like growth factor binding protein-3 (IGFBP-3) and growth hormone (GH) levels in children with congenital heart disease (CHD) and to determine if these parameters have any relationship to the cyanosis, nutritional status and the left ventricular systolic function. This study is prospective-randomized study which conducted in 94 CHD patients (36 girls and 58 boys, aged between one 1-192 months, 19 cyanotic CHD and 75 acyanotic CHD) and age-sex matched 54 children (26 girls and 28 boys) with no CHD. In the study group, 37 out of the 94 CHD patients (39.4%) and 16 out of the 54 controls (29.6%) had malnutrition. The difference between the cyanotic and acyanotic patients in respect to malnutrition was significant (57.9% and 34.6%, p<0.05). Serum IGF-1 levels were lower (41.8+/-3.9 microg/L, 106.9+/-17.9 microg/L respectively, p<0.001) and GH levels were higher (6.43+/-0.9 ng/ml, 3.87+/-0.5 respectively, p<0.05) in CHD patient group than the controls. Serum IGF-1 levels were significantly lower in cyanotic CHD patients than the acyanotic patients (17.2+/-3.2 microg/L, 48.7.0+/-4.6 microg/L respectively, p<0.001) and serum IGF-1 levels were both lower in acyanotic and cyanotic CHD patients than the controls (p<0.001 for both). Serum IGF-1 and GH levels were similar between the well-nourished CHD patients and CHD patients with malnutrition (p>0.05). In total study group, the most effective factors on serum IGF-1 levels was presence of CHD (p<0.001), in CHD patients, the presence of cyanosis is the most effective factor on serum IGF-1 level, the presence of malnutrition is the most effective factor on serum IGFBP-3 levels (p<0.01). In the acyanotic, cyanotic, and the entire CHD patient groups, we find no correlations between the serum IGF-1, IGFBP-3 levels and left ventricular systolic function measurements. But serum GH levels were negatively correlated with diastolic left ventricular interseptum diameter, diastolic left ventricular mass and left ventricular end-diastolic volume measurements in CHD patients. In conclusion, we determined that the most important factor on serum IGF-1 levels is cyanosis. Reduced IGF1 levels and decreased left ventricular mass with an elevated GH levels in CHD patients and these findings are prominent in the cases with cyanosis and malnutrition. For this reason we believe that chronic hypoxia plays a significant role in the pathogenesis of malnutrition and also we believe that IGF-1 deficiency seen in CHD patients may be responsible in the etiology of the decrease in left ventricular mass independently from GH.


Subject(s)
Cyanosis/blood , Heart Defects, Congenital/blood , Human Growth Hormone/blood , Insulin-Like Growth Factor Binding Protein 3/blood , Insulin-Like Growth Factor I/analysis , Nutritional Status , Ventricular Function, Left , Child , Child, Preschool , Female , Heart Defects, Congenital/physiopathology , Humans , Male , Regression Analysis
15.
Turk J Pediatr ; 48(3): 260-2, 2006.
Article in English | MEDLINE | ID: mdl-17172073

ABSTRACT

A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome. However, in view of the growth failure, fair hair and skin, proteinuria, polyuria and active rickets, cystinosis was considered. Bone marrow smear examination was normal, despite the existence of suspicious crystals in the cornea. Cystine crystals were seen in the conjunctiva biopsy and increased leukocyte cystine level was measured; therefore, definitive cystinosis diagnosis was made. Renal Fanconi syndrome with metabolic acidosis is prominent in cystinosis; however, in rare instances, if sodium-dependent trans-tubular transport defect is present, patients could have Bartter syndrome findings such as hypochloremic metabolic alkalosis. Our case is a good example demonstrating that metabolic alkalosis should not exclude cystinosis and the other signs and symptoms of the patient should be thoroughly evaluated.


Subject(s)
Fanconi Syndrome/diagnosis , Bartter Syndrome/diagnosis , Diagnosis, Differential , Humans , Infant , Male
16.
Blood ; 108(9): 3021-6, 2006 Nov 01.
Article in English | MEDLINE | ID: mdl-16849641

ABSTRACT

Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, and molecular genetic status of the PLG gene of 50 patients. The most common clinical manifestations among these patients were ligneous conjunctivitis (80%) and ligneous gingivitis (34%), followed by less common manifestations such as ligneous vaginitis (8%), and involvement of the respiratory tract (16%), the ears (14%), or the gastrointestinal tract (2%). Four patients showed congenital occlusive hydrocephalus, 2 with Dandy-Walker malformation of cerebellum. Venous thrombosis was not observed. In all patients, plasma PLG levels were markedly reduced. In 38 patients, distinct mutations in the PLG gene were identified. The most common genetic alteration was a K19E mutation found in 34% of patients. Transient in vitro expression of PLG mutants R134K, delK212, R216H, P285T, P285A, T319_N320insN, and R776H in transfected COS-7 cells revealed significantly impaired secretion and increased degradation of PLG. These results demonstrate impaired secretion of mutant PLG proteins as a common molecular pathomechanism in type I PLG deficiency.


Subject(s)
Plasminogen/deficiency , Plasminogen/genetics , Animals , Blood Coagulation Disorders/genetics , Conjunctivitis/etiology , Conjunctivitis/genetics , Gene Expression Regulation , Genetic Carrier Screening , Humans , Mice , Mice, Knockout , Plasminogen/chemistry , Plasminogen/metabolism , Protein Conformation
17.
Turk J Pediatr ; 47(1): 67-70, 2005.
Article in English | MEDLINE | ID: mdl-15884633

ABSTRACT

We describe the first family report of ARC syndrome (arthrogryposis multiplex congenita, renal dysfunction, and cholestasis) diagnosed in Turkey. ARC syndrome is a rare cause of cholestatic jaundice and skeletal abnormalities in the neonatal period. Fanconi-like renal tubular dysfunction completed the clinical picture. Consanguinity and affected membership are the other typical components of this rare disorder, and possibility of autosomal recessive transmission was considered. A broad spectrum of histopathological abnormalities have been described in the liver and kidney. In this report, we describe two male siblings with ARC syndrome who had cholestatic jaundice, arthrogryposis multiplex congenital-like joint contractures and renal involvement with additional clinical features. Clinical and pathological aspects of the syndrome are discussed and compared with the other cases in the literature.


Subject(s)
Arthrogryposis/complications , Cholestasis/complications , Fatal Outcome , Humans , Infant, Newborn , Jaundice, Obstructive/complications , Kidney/abnormalities , Kidney/pathology , Liver/pathology , Male , Siblings , Syndrome , Turkey
18.
Pediatr Int ; 46(3): 322-4, 2004 Jun.
Article in English | MEDLINE | ID: mdl-15151550

ABSTRACT

BACKGROUND: Cholelithiasis is a rare condition seen during childhood. The aim of this study was to determine frequency of biliary sludge and cholelithiasis with ceftriaxone therapy. METHODS: Thirty-eight children aged between 1 month and 17 years were evaluated with ultrasonographic examination at the initiation of the ceftriaxone therapy and 10th day of therapy, consecutively. If biliary sludge or cholelithiasis were demonstrated, scans were repeated monthly until pathology disappeared. RESULTS: Abnormal gallbladder sonograms were demonstrated in 36.8% (n = 14) of patients at the 10th day of therapy. Cholelithiasis was detected in 28.9% (n = 11) of patients and biliary sludge was detected in 7.9% (n = 3). Two children still had cholelithiasis at the 30th day after therapy and one had cholelithiasis after the 60th day. The 9-year-old girl who still had cholelithiasis after 60 days of therapy also had nausea, vomiting and abdominal pain at 7 days after cessation of therapy. Her 90th day sonographic examination was normal. CONCLUSION: Reversible biliary sludge or pseudocholelithiasis due to ceftriaxone treatment is not a rare condition. Therefore it is benign, spontaneously resolved and clinical signs are usually absent.


Subject(s)
Anti-Bacterial Agents/adverse effects , Bile , Ceftriaxone/adverse effects , Cholelithiasis/chemically induced , Anti-Bacterial Agents/therapeutic use , Ceftriaxone/therapeutic use , Child, Preschool , Cholelithiasis/diagnostic imaging , Female , Gallbladder/diagnostic imaging , Humans , Male , Prospective Studies , Time Factors , Ultrasonography
19.
Int J Colorectal Dis ; 18(5): 455-8, 2003 Sep.
Article in English | MEDLINE | ID: mdl-12750931

ABSTRACT

BACKGROUND: Neutropenic enterocolitis is a devastating bowel wall inflammation in patients with protracted neutropenia. The approach for diagnosis and treatment is still controversial, and it is difficult and challenging to decide on what should be the next step in the management. CASE PRESENTATION: We report a 10-year-old boy who developed neutropenic enterocolitis in the course of the conservative treatment for aplastic anemia. Oral mucositis and the perianal fissure with an ulcer were important indicators for what was happening on the colonic mucosa. Colonoscopy and biopsy confirmed the diagnosis. A fast recovery was achieved with a right hemicolectomy and ileostomy. CONCLUSION: Retrospective analysis of the long-term follow-up of our patient suggests that defunctioning the colon by ileostomy breaks the vicious circle between neutropenia and bowel wall inflammation, and an early surgical intervention could be considered as an adjunctive approach to the conservative management of persistent cases.


Subject(s)
Colectomy/methods , Enterocolitis, Neutropenic/surgery , Ileostomy/methods , Anemia, Aplastic/complications , Child , Enterocolitis, Neutropenic/diagnosis , Enterocolitis, Neutropenic/etiology , Humans , Male , Treatment Outcome
20.
Clin Biochem ; 35(3): 247-50, 2002 May.
Article in English | MEDLINE | ID: mdl-12074834

ABSTRACT

BACKGROUND: To clarify the effect of smoking on bone metabolism in the fetus, we measured osteocalcin (OC), bone isoenzyme of alkaline phosphatase (BALP), procollagen type 1 C-terminal propeptide (PICP) in maternal serum and umbilical cord blood. METHODS: 15 active smoker, 14 passive smoker, 15 nonsmoker women and their newborn were included in this study. OC, BALP, PICP were determined by enzyme immunoassay. RESULTS: Of the bone markers tested only OC was different in the serum of the three groups of women. Infants of smoker women have significantly lower umbilical cord blood OC levels than those of infants from both passive smoker and nonsmoker women.(25.6 +/- 6.6, 35.8 +/- 10.4, 37.2 +/- 16.1 ng/mL respectively, p < 0.05). Infants of smoker women have significantly lower umbilical cord blood BALP levels than those of infants from nonsmoker women. (46 +/- 12, 57 +/- 15 U/L p < 0.05). All bone markers except total ALP were significantly higher in umbilical cord blood as compared to maternal blood levels (p < 0.001 for all). CONCLUSION: High umbilical cord blood bone marker levels may reflect the altered bone metabolism of fetus. Moreover, chronic hypoxia due to smoking may cause the suppression of bone matrix synthesis or placental synthesis as reflected by low OC and BALP levels in umbilical cord blood of infants from smoker women.


Subject(s)
Bone Development , Bone and Bones/metabolism , Fetal Blood/chemistry , Smoking/blood , Smoking/metabolism , Alkaline Phosphatase/blood , Biomarkers/blood , Embryonic and Fetal Development , Female , Humans , Infant, Newborn , Maternal Behavior , Osteocalcin/blood , Peptide Fragments/blood , Pregnancy , Procollagen/blood , Risk , Smoking/adverse effects , Tobacco Smoke Pollution/adverse effects
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