Preinatal Types of Niemann-Pick disease type C

How to Cite This Article:Alaei MR. Preinatal Types of Niemann-Pick disease type C. Iran J Child Neurol. 2015 Autumn;9:4(Suppl.1): 12.Pls see Pdf.

Treatment of Organic Acidemia

Immidiate ManagementInfants and children with acute metabolic crisis require immediate treatment to prevent further acute deterioration and long-term sequelae.Early and appropriate treatment before confirmation of the diagnosis is life-saving.Eliminate intake of the precursors of possibly toxic metabolites.This applies most often to suspected inborn errors of amino acid or organic acid metabolism. In both cases, dietary or parenteral intake of protein and amino acids should be eliminated immediately an organic acidemia is suspected.Administer glucose a simple source of calories at least 8 mg / kg / min to suppress mobilization of endogenous sources of the metabolites.This is achieved by the intravenous administration of 10% dextrose supplemented by Intralipid.Specific TherapydiseaseNPO: Minimize intake and endogenous productionof toxic metabolites.Hadration: Administer high-calorie, high-carbohydrate intravenousfluids: 10% dextrose in 0.2% NaCl at 1.5 times calculated maintenance, and add KCl .Alkali Therapy: Bicarbonate is generally not indicated unless the plasma bicarbonate is <10 mmol/L; deficits should be only half corrected.Hemo or peritoneal dialysis: If just described measures fail to induce clinical & biochemical improvement ,hemo or peritoneal dialysis is indicated to Accelerate elimination of toxic metabolites. If hyperammonemia exists:1.5 × Maintenance D/W 10 % & intravenous lipids 1 g/kg 24 hSodium benzoate 250 mg/ kg to be added to 20 cc/kg of 10% glucose & infused within 1-2 h (priming dose) Continue infusion of sodium benzoate 250-500 mg / kg / 24 h following the above priming dose & should be added to daily intravenous fluidsInitiate peritoneal dialysis or hemodialysis :if above treatment fails to produce an appropriate decrease in plasma ammonia.Peritoneal dialysis is too slow. Exchange transfusion brings the plasma ammonium down quickly, but rebound hyperammonemia occurs just as quickly.It may be useful in some circumstances as an adjunct to hemodialysis.Cofactors TherapyAdministration of cofactors may be indicated in organic acidemia :Biotin 10 mg / dayCarnitine 100 / mg / kg / day in three divided doses IV or orallyCobalamin (vitamin B12) 1 mg SC or IMB6 100 mg IV or Activated B6 10 mg/kg IV, should be given to neonates with seizures unresponsive to conventional anticonvulsants; if there is no response to B6 and Activated B6 ,folinic acid , should be administered for possible folinic acid responsive seizures

Traditional uses of medicinal plants to prevent and treat diabetes; an updated review of ethnobotanical studies in Iran

Background: Obesity and physical inactivity are currently on the rise due to industrialization of the communities, which has recently led to increased incidence of different diseases such as diabetes. Epidemiological studies and figures have demonstrated the growing incidence of diabetes. Relevantly, the side effects of chemical drugs have led patients to use medicinal plants and traditional approaches despite advances in development of chemical drugs. The aim of this review article is to report the medicinal plants and their traditional uses to prevent and treat diabetes according to the findings of ethnobotanical studies conducted in different regions of Iran. Evidence Acquisitions: The search terms including ethnobotany, ethnomedicine, ethnopharmacology, phytopharmacology, phytomedicine, Iran, and traditional medicine in combination with diabetes, blood sugar and hyperglycemic were searched from scientific databases. Results: The results of this article can be a comprehensive guideline, based on ethnobotany of different regions of Iran, to prevent and treat diabetes. According to this review article, certain plant species such as Urtica dioica L., popularly called nettle, in eight regions, Teucrium polium L., popularly called poleigamander, in five regions, and Trigonella foenum-graecum L., Citrullus colocynthis (L.), Schrad., and Juglans regia L. in four regions, were reported to be frequently used to prevent and treat diabetes Conclusions: The introduced medicinal plants in this review can be investigated in further research and produce new drugs with limited side effects

Power Management in Sensing Subsystem of Wireless Multimedia Sensor Networks

A wireless sensor network consists of sensor nodes deployed over a geographical area for monitoring physical phenomena like temperature, humidity, vibrations, seismic events, and so on. Typically, a sensor node is a tiny device that includes three basic components: a sensing subsystem for data acquisition from the physical surrounding environment, a processing subsystem for local data processing and storage, and a wireless communication subsystem for data transmission. In addition, a power source supplies the energy needed by the device to perform the programmed task. This power source often consists of a battery with a limited energy budget. In addition, it is usually impossible or inconvenient to recharge the battery, because nodes are deployed in a hostile or unpractical environment. On the other hand, the sensor network should have a lifetime long enough to fulfill the application requirements. Accordingly, energy conservation in nodes and maximization of network lifetime are commonly recognized as a key challenge in the design and implementation of WSNs. Experimental measurements have shown that generally data transmission is very expensive in terms of energy consumption, while data processing consumes significantly less (Raghunathan et al., 2002). The energy cost of transmitting a single bit of information is approximately the same as that needed for processing a thousand operations in a typical sensor node (Pottie & Kaiser, 2000). The energy consumption of the sensing subsystem depends on the specific sensor type. In some cases of scalar sensors, it is negligible with respect to the energy consumed by the processing and, above all, the communication subsystems. In other cases, the energy expenditure for data sensing may be comparable to, or even greater (in the case of multimedia sensing) than the energy needed for data transmission. In general, energy-saving techniques focus on two subsystems: the communication subsystem (i.e., energy management is taken into account in the operations of each single node, as well as in the design of networking protocols), and the sensing subsystem (i.e., techniques are used to reduce the amount or frequency of energy-expensive samples).Postprint (published version

Dilated Cardiomyopathy Several Months after Hemolytic Uremic Syndrome

This is a report of a 44-month-old baby girl diagnosed as a case of atypical hemolytic uremic syndrome (aHUS) presenting with hematuria, periorbital edema, anemia, thrombocytopenia, and hypertension lacking any history of previous bloody diarrhea. She was treated with plasma infusion followed by plasmapheresis and peritoneal dialysis. After two months, she was discharged in remission undergoing periodic plasmapheresis. Four months later, she was visited for fatigue, tachypnea, and palpitation. Cardiac evaluation revealed dilated cardiomyopathy with an ejection fraction of 15-20%.  She was hospitalized and treated with inotropes and diuretics; one week later, she was discharged in a favorable condition. After six months follow-up, she showed an acceptable renal and cardiac state. It seems that cardiomyopathy can occur as a late and rare complication of HUS. We recommend cardiac evaluation for all patients with HUS at its presentation and in later follow-ups.  Keywords: Cardiomyopathy; Hemolytic Uremic Syndrome; Child

The Urgency to Mitigate the Spread of Hepatitis C in Pakistan Through Blood Transfusion Reform

Abstract Blood transfusions are contributing to a higher rate of hepatitis C virus (HCV) in Pakistan. Half of all blood transfusions in Pakistan are not screened for hepatitis C, hepatitis B or HIV. Family members donate blood that is likely not tested due to social stigma attached to HCV. Paid donations are also quite common in the country, especially by people who inject drugs (PWID), which increases the population’s exposure to HCV. Most of the population utilizes the private sector for their health needs; this sector has lax regulation due to the lack of oversight by the government or any other regulatory body. In addition, groups who are at most need for blood transfusions, such as hemophiliacs and those with thalassemia, have a higher rate of hepatitis C. This fact reinforces the need for blood transfusion reform in Pakistan, which includes improving oversight, upgrading infrastructure and promoting health literacy through cultural norms, according to the World Health Organization (WHO) recommendations. The lessons learned in Pakistan can be adapted to countries facing similar issues

Rabson-Mendenhall Syndrome: A Case Report

Rabson-Mendenhall syndrome is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, paradoxical fasting hypoglycemia, postprandial hyperglycemia, extreme hyperinsulinemia and pineal hyperplasia. Herein, we described a 10- year-old girl with physical features of the Rabson-Mendenhall syndrome that was presented with polyuria. To our knowledge, this is the first report of the Rabson-Mendenhall syndrome from Iran

Online Epileptic Seizure Prediction Using Phase Synchronization and Two Time Characteristics: SOP and SPH

Background: The successful prediction of epileptic seizures will significantly improve the living conditions of patients with refractory epilepsy. A proper warning impending seizure system should be resulted not only in high accuracy and low false-positive alarms but also in suitable prediction time.Methods: In this research, the mean phase coherence index used as a reliable indicator for identifying the preictal period of the 14-patient Freiburg EEG dataset. In order to predict the seizures on-line, an adaptive Neuro-fuzzy model named ENFM (evolving neuro-fuzzy model) was used to classify the extracted features. The ENFM trained by a new class labeling method based on the temporal properties of a prediction characterized by two time intervals, seizure prediction horizon (SPH), and seizure occurrence period (SOP), which subsequently applied in the evaluation method. It is evident that an increase in the duration of the SPH can be more useful for the subject in preventing the irreparable consequences of the seizure, and provides adequate time to deal with the seizure. Also, a reduction in duration of the SOP can reduce the patient’s stress in the SOP interval. In this study, the optimal SOP and SPH obtained for each patient using Mamdani fuzzy inference system considering sensitivity, false-positive rate (FPR), and the two mentioned points, which generally ignored in most studies.Results: The results showed that last seizure, as well as 14-hour interictal period of each patient, were predicted on-line without false negative alarms: the average yielding of sensitivity by 100%, the average FPR by 0.13 per hour and the average prediction time by 30 minutes.Conclusion: Based on the obtained results, such a data-labeling method for ENFM showed promising seizure prediction for online machine learning using epileptic seizure data. Apart from that, the proposed fuzzy system can consider as an evaluation method for comparing the results of studies