Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues. It is an autosomal recessive disorder, caused by mutations in the NPC1 or NPC2 genes. The clinical spectrum is grouped by the age of onset and onset of neurological manifestation: pre/perinatal; early infantile; late infantile; and juvenile periods. The NP-C Suspicion Index (SI) screening tool was developed to identify suspected patients with this disease. It is especially good at recognizing the disease in patients older than four years of age. Biochemical tests involving genetic markers and Filipin staining of skin fibroblast are being employed to assist diagnosis. Therapy is mostly supportive and since 2009, the first specific therapy approved for use was Miglustat (Zavesca) aimed at stabilizing the rate of progression of neurological manifestation. The prognosis correlates with age at onset of neurological signs; patients with early onset form progress faster. The NP-C disease has heterogeneous neurovisceral manifestations. A SI is a screening tool that helps in diagnostic process. Filipin staining test is a specific biomarker diagnostic test. Miglustat is the first disease-specific therapy

The Crime of Cyber Sexual Exploitation of Children: A Comparative Legal Study

With the spread of the use of computers and the Internet, more and more pedophiles have easier access to children . They can literally enter a child’s home and not be detected. Pedophiles can sit at their own computer and stake out their next victim. This increase in the usage of the Internet has led to the increase in sexual exploitation of children on the Internet. Due to this increase in the perpetration of such heinous crimes, more international efforts were exerted to combat such crimes. Many countries around the world also enacted laws to combat cyber crimes in general and sexual exploitation of children on the Internet in particular . Such countries include the Kingdom of Saudi Arabia, the United Arab Emirates , and The Sultanate of Oman. As to the remaining Arab countries, no such laws yet exist to combat such crimes. But such crimes are dealt with in these countries by applying existing traditional penal and moral codes. The crime of sexual exploitation of children over the Internet is a serious and heinous crime that harms the society greatly .This paper deals with the crime of cyber sexual exploitation of children over the Internet, and national and international efforts in combating this crime. This paper also discusses relevant comparative laws and legislation

Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya

BACKGROUND: Hereditary Tyrosinemia type I (HTI) is a metabolic disease caused by deficiency of fumarylacetoacetate hydrolase enzyme.OBJECTIVES: This study reports beside its clinical and biochemical presentation, the outcome of NTBC [2- (2-nitro-4-trifloro-methylbenzoyl)-1, 3-cyclohexanedion] treatment of the disease and evaluates its biochemical markers in 16 pediatric Libyan patients.PATIENTS AND METHODS: The diagnosis was based on presence of high tyrosine levels in blood and succinylacetone in urine.RESULTS: The consanguinity rate was 81.2%, the median age at onset, at diagnosis and at starting treatment were 4.5, 8, and 9.5 months respectively. At presentation hepatomegaly, jaundice, rickets and high gamma glutamyl transferase (GGT) were observed in 87.5% of patients. All patients had extremely high alpha fetoprotein (AFP) and high alkaline phosphatase (ALP) levels. Fifteen patients were treated with NTBC, normalization of PT (Prothrombine time) was achieved in average in 14 days. The other biochemical parameters of liver function (transaminases, GGT, ALP, bilirubin and albumin) took longer to improve and several months to be normalized. Survival rate with NTBC was 86.6%. Patients who started treatment in a median of 3 months post onset observed a fast drop of AFP in 90.6% of patients (P = 0.003). Abnormal liver function and rickets were the common presentations, GGT was an early cholestatic sensitive test. ALP was constantly high even in asymptomatic patients.CONCLUSIONS: In HT1 a faster dropping of AFP is a marker of good prognosis

T1 Signal-Intensity Increase in the Dentate Nucleus after Multiple Exposures to Gadodiamide: Intraindividual Comparison between 2 Commonly Used Sequences

BACKGROUND AND PURPOSE: Different T1-weighted sequences have been used for qualitative and quantitative evaluation of T1 signal intensity related to gadolinium deposition in the dentate nucleus in patients who underwent several enhanced MR imaging studies. Our purpose was to perform an intraindividual qualitative and quantitative comparison between T1-weighted spin-echo and 3D magnetization-prepared rapid acquisition of gradient echo sequences in patients who had multiple exposures to gadodiamide. MATERIALS AND METHODS: Our retrospectively selected population included 18 patients who underwent at least 3 administrations of gadodiamide and had a baseline and a final MR imaging performed with both T1-weighted sequences. Qualitative and quantitative analyses were independently performed. Dentate nucleus/middle cerebellar peduncle signal-intensity ratios and signal changes between the baseline and final examinations were compared by using the Wilcoxon signed rank test. Correlation between quantitative and qualitative evaluations was assessed by using a polyserial correlation test. RESULTS: The differences between the 2 sequences for both baseline and last examination dentate nucleus/middle cerebellar peduncle ratios were statistically significant (P = .008 and P = .006, respectively); however, the signal-intensity changes of the ratios with time were not (P = .64). The correlation between the qualitative and quantitative analysis was very strong (near-perfect) (r = 0.9) for MPRAGE and strong (r = 0.63) for spin-echo sequences. CONCLUSIONS: T1-weighted spin-echo and MPRAGE sequences cannot be used interchangeably for qualitative or quantitative analysis of signal intensity in the dentate nucleus in patients who received gadodiamide. Baseline and final examination ratios should be evaluated across time by using the same sequence. Qualitative analysis performed with MPRAGE correlated better with quantitative analysis and may offer advantages over spin-echo sequences for research purposes

Application for Iraqi sign language translation on Android system

Deaf people suffer from difficulty in social communication, especially those who have been denied the blessing of hearing before the acquisition of spoken language and before learning to read and write. For the purpose of employing mobile devices for the benefit of these people, their teachers and everyone who has contact with them, this research aims to design an application for social communication and learning by translating Iraqi sign language into text in Arabic and vice versa. Iraqi sign language has been chosen because of a lack of applications for this field. The current research, to the best of our knowledge, is the first of its kind in Iraq. The application is open source; words that are not found in the application database can be processed by translating them into letters alphabetically. The importance of the application lies in the fact that it is a means of communication and e-learning through Iraqi sign language, reading and writing in Arabic. Similarly, it is regarded as a means of social communication between deaf people and those with normal hearing. This application is designed by using JAVA language and it was tested on several deaf students at Al-Amal Institute for Special Needs Care in Mosul, Iraq. It was well comprehended and accepted

Generalized *⊕Z* Supplemented Modules and Generalized*⊕ Co-finitely Supplemented Modules

Let R be a commutative ring with identity, an R-module M is called G*⊕ Z* supplemented modules, if every sub module containing Z*(M) has generalized* supplement in M that is a direct summand of M . and an R-module M is called generalized*co-finitely supplemented, if every co-finite has sub module of M has a generalized* supplement in M. and M is called ⊕ co- finitely generalized* supplemented , if every co- finite sub module of M has G*S that is direct summand of M

Technical Aspects of MRI Signal Change Quantification After Gadolinium-Based Contrast Agents' Administration

Over the last 2years several studies have been published regarding gadolinium deposition in brain structures in patients with normal renal function after repeated administrations of gadolinium-based contrast agents (GBCAs). Most of the publications are magnetic resonance imaging (MRI) based retrospective studies, where gadolinium deposition may be indirectly measured by evaluating changes in T1 signal intensity (SI) in brain tissue, particularly in the dentate nucleus (DN) and/or globus pallidi (GP). The direct correlation between T1 signal changes and gadolinium deposition was validated by human pathology studies. However, the variability of the MR equipment and parameters used across different publications, along with the inherent limitations of MRI to assess gadolinium in human tissues should be acknowledged when interpreting those studies. Nevertheless, MRI studies remain essential regarding gadolinium bio-distribution knowledge. The aim of this paper is to overview current knowledge of technical aspects of T1 signal intensity evaluation by MRI and describe confounding factors, with the intention to achieve higher accuracy and maximize reproducibility.info:eu-repo/semantics/publishedVersio

Crimes Against Electronic Signatures In Saudi Law

The communication and information era revolution in tandem with the technological development resulted a great increase in electronic business transactions. Electronic signature technology, which is necessary to authenticate electronic transactions, has been vital in achieving this development. People are using the internet to buy goods and services of all sorts and kinds. Business transactions, which often require negotiations, a lot of money, and complicated contracts, electronic signatures can render the contract legal, valid, binding, and enforceable. Businesses want to contract electronically for practical reasons, such as more efficient transactions and reduction of paperwork; in addition, electronic contracting can save money and expense. Large institutions can store their electronic contracts on computer drives instead of in vaults. The extensive use of electronic signatures has created a need for laws that protect those who participate in such transactions from crimes committed against such signatures; to meet this need many states have implemented their own versions of electronic signature laws. This paper deals with crimes against signatures in Saudi law and punishments for the commission of such crime

Presentation of Epilepsy in a Patient with Wilson's Disease and Developmental Venous Anomaly (Venous Angioma) in the Brain

Intracranial developmental venous anomalies (DVAs), also called venous angiomas, and Wilson's disease are both considered rare disorders with varying degrees of neurologic and systemic manifestations; yet the coexistence of the two disorders is considered extremely rare, bearing in mind the low prevalence of each disorder. Epilepsy is a recognised presentation in these disorders and will be the focus of discussion in our report of a 21-year-old male patient who, based on a clinical examination and laboratory and neuroimaging results, was diagnosed with both Wilson's disease and DVA. He presented initially at Sultan Qaboos University Hospital, Oman with tremors and writing difficulties in the right hand followed by the development of epilepsy, and was treated medically by de-coppering and antiepileptic medications. We also present a brief literature review of both disorders, their association with epilepsy, and treatment options. Family screening for patients with Wilson’s disease is pivotal in preventing unfavourable outcomes.

Gadolinium-Based Contrast Agent Accumulation and Toxicity: an Update

In current practice, gadolinium-based contrast agents have been considered safe when used at clinically recommended doses in patients without severe renal insufficiency. The causal relationship between gadolinium-based contrast agents and nephrogenic systemic fibrosis in patients with renal insufficiency resulted in new policies regarding the administration of these agents. After an effective screening of patients with renal disease by performing either unenhanced or reduced-dose-enhanced studies in these patients and by using the most stable contrast agents, nephrogenic systemic fibrosis has been largely eliminated since 2009. Evidence of in vivo gadolinium deposition in bone tissue in patients with normal renal function is well-established, but recent literature showing that gadolinium might also deposit in the brain in patients with intact blood-brain barriers caught many individuals in the imaging community by surprise. The purpose of this review was to summarize the literature on gadolinium-based contrast agents, tying together information on agent stability and animal and human studies, and to emphasize that low-stability agents are the ones most often associated with brain deposition.info:eu-repo/semantics/publishedVersio