Study of plasma amino acid levels in children with autism: an Egyptian sample

The aetiology of autism is unclear and autistic symptoms had been attributed to an abnormal functional imbalance in neurotransmitter amines such as dopamine, noradrenaline and serotonin. To study plasma essential and non-essential amino acid levels, protein electrophoresis, serum ammonia, and urea in autistic children in comparison with controls. Twenty autistic children were compared to twenty healthy age and sex matched normal children serving as control, where serum amino acids, urea, ammonia and protein electrophoresis were estimated. As regards essential amino acid levels, autistic children had significant lower plasma levels of leucine, isoleucine, phenylalanine, methionine and cystine than controls [P < 0.05],while there was no statistical difference in the level of tryptophan, valine, threonine, arginine, lysine and histidine [P > 0.05]. In non-essential amino acid levels, phosphoserine was significantly raised in autistic children than in controls [.P < 0.05]. Autistic children had lower level of hydroxyproline, serine and tyrosine than controls [P < 0.05]. On the other hand there was no significant difference in levels of taurin, asparagine, alanine, citrulline, GABA, glycine, glutamic acid, and ornithine [P > 0.05]. There was no significant difference between cases and controls as regards the levels of urea, ammonia, total proteins, albumin and globulins [alpha 1, alpha 2, beta and gamma] [P > 0.05]. Autistic children had lower levels of some plasma amino acids except for glycine and glutamic acids and phosphoserine were increased with normal serum levels of urea, ammonia, total proteins, albumin and globulins [alpha 1, alpha 2, beta and gamma]

Early cerebral duplex, doppler D-dimer, and plasminogen activator inhibitor - 1 in high risk term neonates

Alterations in the cerebral blood flow in the neonate can be assessed by Duplex Doppler. Stressed neonates may be liable to cerebral thrombosis owing to disturbed procoagulant balance between reactive fibrinolysis and antifibrinolysis. This study assessed some plasma hemostatic markers in correlation with cerebral hemodynamics in a group of stressed FT neonates. To investigate possible relation of both measurements to the type of the offending risk factor and to the severity of neurologic presentation. In this study, plasma level of D-dimer, a marker of fibrin formation and reactive fibrinolysis, and plasminogen activator inhibitor-1 [PAI-1], a marker of anti-fibrinolysis were assessed in 62 FT neonates. Of these, 52 were perinatally distressed, having neurological manifestations in the immediate post-natal period and 10 were healthy FT neonates who served as control. Studied neonates were clinically assessed at birth by Apgar score, resuscitated as required, sampled for ABG and CRP, and subjected to full clinical evaluation. Stressed neonates were categoriesed according to the type of perinatal insult into: One risk factor group; namely perinatal asphyxia [group A] and intrapartum trauma [group B], Two risk factor group; comprising group C, that included the above two risks, groups D and E that included any of the above two risks with superadded early postnatal sepsis. They were eventually classified by neurological criteria according to early postnatal encephalopathy score [ES] into minimum ES and maximum ES groups. Re-sampling followed for ABG and laboratory investigations that included CBC, platelet count, PT, PTT, D-dimer and PAI-1 assay by enzyme linked immunosorbant assay [ELISA]. Within 24 hours of birth, middle cerebral artery blood flow velocity was assessed and resistive index [RI] was measured using Duplex Doppler sonography. The mean values of RI, plasma D dimer and PAI-1 were significantly higher than control in all stressed neonates and in each high risk group. Reduced cerebral blood flow in asphyxiated neonates was mainly aggravated by birth trauma. Traumatised neonates had significantly higher mean plasma D-dimer and PAI-1 as compared to neonates with perinatal asphyxia. Development of postnatal sepsis significantly raised plasma level of PAI-1 in asphyxiated neonates. RI was more predictive of severity of encephalopathy than either hemostatic markers. Cerebral ischemia was significantly associated with instrumental delivery, premature rupture of membranes [PROM] while no significant association existed with either fetal bradycardia, liquor stained meconium, emergency CS, degree of hypoxemia or hypocarbia. A significant positive correlation existed between values of RI and each of plasma levels of D-dimer and PAI-1 in all stressed neonates. Conclusions: On the first day of life, cerebral blood flow is reduced and some plasma prothrombotic markers are elevated in FT neonates subjected to trauma or asphyxia at birth. Cerebral ischemia in severely stressed FT neonates may pave the way to future cerebrovascular thrombosis. It follows that early screening by cerebral Duplex Doppler is crucial for high risk FT neonates especially following exposure to intrapartum trauma

Early detection of malignant showers in blood of colorectal cancer patients using carcinoembryonic antigen mRNA Reverse Transcriptase-polymerase Chain Reaction

Serum CEA is among the most widely accepted marker for diagnosing and monitoring colorectal cancer [CRC] yet it has many limitations. The objective of the present study was to evaluate the utility of plasma CEA-mRNA as a marker for early detection of micrometastasis and assess its usefulness versus that of serum CEA in CRC patients. This study included 36 patients with CRC who were staged according to Dukes' staging system into stage A [n = 4], B [n = 8] C [n = 14] and stage D [n = 10]. Patients included in Dukes' stages A and B [n = 12] had non-metastatic lesion and were considered as one group [group I] while those having stages C and D [n = 24] had metastatic lesions. Patients with metastatic lesions who weren't receiving chemotherapy were included in one group [group II, n = 20] while those on chemotherapy [5 fluorouracil and leukovorin] were considered as group III [n = 4]. Six patients suffering from benign colorectal disease [ulcerative colitis n = 2, diverticulitis n = 1 and polyps n=3] and six healthy age and gender matched and with normal serum CEA concentration were included in the study and were considered as the control group [group IVa, group IVb respectively]. All CRC patients were subjected to clinical, radiological, endoscopic, histopathological and laboratory assessment. Control subjects were assessed both clinically and laboratory wise. Serum CEA was assayed by chemiluminescent sequential immunometric assay while plasma CEA-mRNA was determined by semi nested reverse transcription RT-PCR. The median and inter-quartile values for serum CEA in groups I, II and III were 2.5 [1.5-3.4], 4.6 [2.8-9.9] and 4.2 [2.9-5.3] ng/mL respectively. As for the control groups, it was 2 [0.9-2.2] ng/mL in group IVa and 3.3 [2.1-4.0] ng/mL in group IVb. When compared to controls, serum CEA was significantly higher only in metastatic patients [group II and III], however, when compared to non-metastatic CRC, serum CEA was significantly higher only in patients not on chemotherapy [group II]. The degree of tumor differentiation had no significant impact on serum CEA concentration. Our results also demonstrated that the percent positivity for CEA-mRNA increase with advancing CRC stage where a highly significant increase was observed in metastatic patients [65%] when compared to non metastatic ones [8.3%]. Our results also showed that CEA- mRNA may be positive in subjects with benign colorectal diseases [8.3%] and that chemotherapy may result in negative results for m-RNA. Again, the degree of differentiation had no impact on percent positivity of CEA- mRNA. Finally, our results showed that serum CEA and percent positivity of CEA- mRNA do not correlate and that the recurrence rate in patients with positive CEA-mRNA is significantly high [70%]. Reverse-trancriptase polymerase chain reaction for CEA-mRNA is a sensitive method for detection of circulating cancer cells in CRC patients. Colorectal cancer patients with postoperative CEA-mRNA positive cells in peripheral blood have less disease free survival than patients who demonstrate absence of these cells. Studies involving a larger group of patients with a longer follow-up period should be done to implement the clinical relevance of this phenomenon. Patients receiving chemotherapy should not be tested for CEA-mRNA during the treatment course. They should be tested repeatedly thereafter at longer time intervals following the last dose of chemotherapy

Serum vitamin B12 in neural tube defects: a factor behind folate deficiency

Neural tube defects [NTDs] are the most common congenital anomalies of the central nervous system, resulting from failure of the neural tube to close between 3rd - 4th week of gestation. NTDs result from multiple intrinsic and extrinsic factors including maternal folate deficiency. Although clear evidence exists on preventability of a large proportion of neural tube defects by periconceptional folk acid intake, however the exact cause of this deficiency is not established. Hence, the purpose of this study was to determine possible risk factors for the occurrence of NTDs. The relation between maternal serum folate and vitamin B[12] and their infant's levels. Patients and methods: Clinical history and examination, and serum folic acid and vitamin B[12] concentrations [by Radioimmunoassay] were assessed for 20 neonates with neural tube defect [36-39 week of gestation, 11 females and 9 males] and their mothers. They were compared to 20 healthy neonates and their mother as a control group. Infants with NTDs have significantly lower serum levels of folic acid and vitamin B12, compared to healthy infants [p = 0.02 and p = 0.001] respectively. Serum level of vit B12 was significantly lower in mothers of infants with NTDs than mothers of healthy infants [p = 0.01], but there was no significant difference between serum level of folic acid in mothers of infants with NTDs and mothers of healthy infants. There was no significant difference between males and females as regards serum levels of both folic acid and vit B12. Positive correlation was found between gestational age and serum level of folic acid [p = 0.01]. Also, statistically significant positive correlation was found between serum level of vitamin B12 of infants With NTDs and their momers. [p =0.031]. There was significant correlation between serum level of folic acid and serum level of vitamin B12 in mothers of healthy infants [p<0.05]. The study demonstrated that not only folate is deficient in infants with neural tube defects, but vitamin B12 is also deficent in them and their respective mothers. This finding focuses light on the pivotal role vit.B12 deficiency as a corner stone of folate deficiency So deficiency of vitamin B12 rather than folic acid during pregnancy might play a role in the genesis of neural tube defects

modified electrophoretic fractionation of the enzyme 5/nucleotidase in the laboratory diagnostic work up of cholestasis

This study included 70 subjects divided into patients group [n = 55 and healthy controls group [n = 15]. Gamma glutamyl transferase [GGT] was significantly higher in non-cholestatic hepatobiliary disease [HBD] subjects than in healthy controls. On the other hand, all laboratory liver function tests were significantly higher in cholestatic HBD patients when compared to non-cholestatic HBD and healthy subjects. 5/nucleotidase [5/NT] and its fractions [alpha 1, alpha 2 and beta] as well as the total 5/NT/beta ratio were significantly higher in cholestatic HBD subjects when compared to non- cholestatic HBD and healthy controls. In non-cholestatic HBD patients, only the alpha and the total 5/NT/beta ratio showed a statistical significant increase versus healthy controls. Receiver operator characteristic [ROC] curve analysis was done for total 5/NT/beta ratio as well as for the activities of total 5/NT, ALP and GGT. In conclusion, the introduction of reliable 5/NT fractionation with maximum analytical performance into the laboratory diagnostic workup of cholestasis appears perfect

Contraception in diabetic women: comparative metabolic study of norplant, depot medroxyprogesterone acetate, low dose oral contraceptive pill and cuT 380 A

The objective of this study was to evaluate the long-term intake of Norplant, depot medroxyprogesterone acetate [DMPA] and low dose oral contraceptive pill [OCs] on glycemic control, lipoprotein metabolism and coagulation profile in diabetic women. This study included 80 uncomplicated controlled diabetic women. The clinical, metabolic and coagulation status was followed up at three, six and nine months visits. Results revealed that fasting blood sugar increased in OCs and DMPA users. Total cholesterol [TC] and LDL-cholesterol [LDL-C] decreased in all groups, except DMPA was increased. Triglyceride [TG] only increased in OCs group. HDL-cholesterol [HDL-C] increased with OCs and decreased with Norplant and DMPA. In diabetics, Norplant resulted in minimal metabolic alterations, followed by OCs, while DMPA had unfavorable outcome

Transferrin and the prediction of spontaneous bacterial peritonitis

Patients with advanced liver disease are particularly susceptible to spontaneous bacterial peritonitis [SBP]. Pathogenic micro-organisms could survive and become more virulent in the presence of free iron. Thus, iron binding proteins provide protection against these organisms. The present study was conducted to evaluate the role of determining transferrin levels in serum and ascitic fluid, as well as its serum: ascitic fluid ratio [mg/mg] in differentiating between SBP and SA [sterile ascites] in cirrhotic patients. Moreover, the role of the ratio between ascitic fluid transferrin: ascitic fluid total protein [mg/g], as a marker for SBP was tested. Our study included 50 patients. Twenty five patients had SBP [according to Runyon's and Hoefs criteria] while the other 25 patients had SA. Our results revealed that patients with advanced liver impairment had higher susceptibility for SBP than SA. They had significantly higher serum total bilirubin [p<0.001] and significantly lower serum albumin and transferrmn [p<0.001, respectively]. More over, SBP group had significant prolongation of the prothrombin time [p<0.001]. Ascitic fluid aspirated from the SBP patients showed significantly lower transferrin and total protein values [p<0.05 and <0.001, respectively]. Serum: ascitic fluid transferrin ratio [mg/mg] was significantly lower in patients with SBP [p<0.001]. The best cut off level giving the highest diagnostic sensitivity and specificity was 3.5 yet, at this level poor diagnostic sensitivity and specificity in differentiating between the two clinical conditions [76% and 28%, respectively] was found. Ascitic fluid transferrin: ascitic fluid total protein ratio [mg/g] was significantly higher in patients with SBP [p<0.001] and had a diagnostic sensitivity and specificity of 100%, respectively in differentiating between both clinical conditions at a cut-off level of 22.26. Patients with advanced liver disease are more liable for the occurrence of SBP than SA. Ascitic fluid transferrin: ascitic fluid total protein ratio, at a cut-off level of 22.26, can differentiate between the two clinical conditions with a diagnostic sensitivity and specificity of 100%, respectively

Procalcitonin: a promising diagnostic and differential diagnostic marker for acute lower respiratory tract infection

The objective of the present study was to evaluate the role of plasma procalcitonin [PCT] as a useful marker for the early diagnosis of acute lower respiratory tract infection [LRTI] and its use as a tool to differentiate between its different etiologies. Moreover, its prognostic role was also evaluated. The study included 40 patients with acute LRTI who were divided into two groups; Group 1: included 20 patients [3-48 months old] with pneumonia and Group 2: included 20 patients [2-24 months old] with bronchiolitis. Twenty healthy age and sex matched infants and children were included as the control group. Serum calcium [Ca], phosphorus [P] and C-reactive protein as well as plasma procalcitonin [PCT] and complete blood counts [CBC] were estimated. Our results showed a significant decrease of serum Ca and P in patients with pneumonia. Patients with acute LRTI had significantly higher total leukocyte count, neutrophil count and lymphocyte count when compared to healthy controls. The level of these parameters in pneumonia patients were higher than those recorded in bronchiolitis patients. Healthy control subjects had a median plasma PCT of 6 pg/mL and an interquartile range of 4-8 pg/mL. Pneumonia patients had the highest PCT levels on admission [median of 370 pg/mL and interquartile range of 250-630 pg/mL]. Bronchiolitis patients had a median PCT of 92 pglmL and an interquartile range of 75.8-152.3 pg/mL. PCT at a cut-off level of 160 pg/mL differentiated between the two clinical conditions with a diagnostic sensitivity of 91% and specificity of 75%. The combined use of PCT at a cut-off level of 160 pg/mL and total leukocyte count at a cut- off level of 14x10 3/mL had a diagnostic sensitivity of 100% and% specificity of 75%. With control of infection plasma PCT levels1 dropped rapidly and significantly [p<0.01, respectively]. Procalcitonin is a useful diagnostic and differential diagnostic marker for the detection of acute LRTI showing higher levels with bacterial etiologies. Moreover, its rapid decline with successful control of the infection promotes its application as a marker for successful treatment and for the prognosis of the clinical outcome of the patients

Cross - linked teleopepetide of type I collagen [bone turnover marker] inpatients with rheumatoid arthritis in correlation with disease activity

In this study Radioimmunoassay was used to measure the serum concentration of corss-linked carboxy terminal telopeptide of type I collagen [ICTP] as a serum marker for bone collagen degradation in rheumatoid arthritis [RA] patients. 30 patients having [RA] were subdivided into two subgroups according to disease activity. One subgroup concluded 15 patients having active rheumatoid, the other subgroup concluded 15 patients having inactive [RA]. The 30 patients were also divided according to steroid therapy administration, where 14 patients received steroid and 16 patients did not receive steroid at all. In addition to 15 patients healthy control subjects. All patients and control were females, the mean age was 38.1 +/- 3.8 years old and 36.9 +/- 3.5 years old respectively [P>0.05] i.e. statistically insignificant. Our results showed that s. [ICTP] was increased in patients in comparison to control, the mean was 6.7 +/- 2.3 mg/L and 3.5 +/- 0.5 mg/L respectively [P< 0.001] which is highly significant. Higher levels of [ICTP] were found in active [RA] group than inactive group, the mean was 8.30 +/- 2.3 mg/L and 5.14 +/- 0.6 mg/L respectively [P< 0.00 1] which is highly significant. There was no, significant differences in s.[ICTP] between patients on steroid therapy and that who were not, the mean was 7.7 +/- 2.8 mg/L and 5.8 +/- 1.3 mg/L [P> 0.05] which is not significant. In conclusion, serum [ICTP] level was elevated in patients having rheumatoid arthritis and correlated positively with disease activity, serum [ICTP] however, is not influenced by steroid intake in those patients