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Snyder-Robinson syndrome is an X-linked condition that causes intellectual impairment. (sometimes referred to as spermine synthase deficiency) This condition is characterized by asthenic body habitus, facial dimorphisms, a wide-based gait, osteoporosis, and recurrent fractures. Here, we present the findings of a pediatric autopsy on a 4-year-old boy who had been previously identified as having SnyderRobinson syndrome as a result of an SMS gene mutation and had a history of seizures, repeated fractures, and aberrant gait Hypoxic-ischemic encephalopathy brought on by persistent seizure activity was the cause of death. Present complaint and investigation: The patient, a 50-year-old male with modest mental retardation with adaptive skills, gait problems necessitating the use of an On December 9, 2021, a patient with numerous fractures, treatment-resistant myoclonic epilepsy, and a walker or holding hands was brought to the Hospital. He showed no evidence of being able to speak with numerous words and some signals despite behavioral concerns. To identify the diagnosis, a blood investigation is used. analysis of the enzyme synthase. reduced or nonexistent SMS enzyme activity in cultured lymphoblast or fresh white cells testing for molecular genetics discovery of a harmful homozygous loss-offunction mutant. x-ray Bilateral peripheral infiltrates on a chest x-ray were alarming for a viral infection. a cerebral spinal fluid and blood culture-based sepsis workup analgesia was initiated because of the changed mental status. As the developmental delay worsens, many boys with SRS experience some motor impairment. Main diagnosis and therapeutic interventions and outcome: The physician decide that the patient has Snyder Robinson syndrome after performing a physical examination and a general evaluation. An evaluation for sepsis using cerebral spinal fluid and blood cultures was prompted by the patient's changed mental status. Bilateral peripheral infiltrates on the chest x-ray were alarming for a viral infection. Conclusion: Our results are consistent with the theories that poor bone density results from a failure to mineralize, and that tissue-specific changes in the tissue specificity of SRS features are influenced by metabolism. Anew SMS mutation is the cause of Snyder-Robinson disease. A new SMS mutation results in Snyder-Robinson syndrome. Our patient’s Additional indications that the digestive system is important to include severe failure to thrive, enteral feeding intolerance, hepatic fibrosis, pancreatic exocrine insufficiency, and jejunal stenosis. [ABSTRACT FROM AUTHOR]

Introduction: Meningoencephalitis and meningitis have a broad differential diagnosis: Infections caused by entero-viruses, human HPV types 1-4, 5, and 6, paramyxovirus (mumps), measles virus, and adenoviruses are among the causes of T.B. Clinical signs of primary H.I.V. infection cause hyperthermia, exhaustion, cold and cough, migraine, nasal cavity inflammation, widespread allergy, lymphadenopathy, and digestive issues. 2 Up to 17% of individuals get aseptic meningitis, meningoencephalitis, and encephalitis, which could be related to a quicker course of treatment for the disease and complication. After the onset of the initial H.I.V. infection symptoms and all other symptoms have subsided, neurological symptoms may develop or show up to 3 months later. Respiratory failure is a reasonably typical presentation to the I.C.U. in HIV-infected individuals. Since the meningoencephalitis epidemic, the overall incidence of Pneumocystis jiroveci as a cause of respiratory failure has decreased. There is evidence that continuing or initiating HAART in critically sick H.I.V. patients is helpful and should be addressed following a multidisciplinary discussion. Conclusion: One instance of meningoencephalitis and two cases of meningitis caused by primary H.I.V. infection is discussed. Patients with H.I.V. frequently enter the I.C.U. Due to respiratory insufficiency. Since the AIDS crisis, Pneumocystis jirovecii has generally become less common as a cause of respiratory failure. There is proof that starting or maintaining HAART is suitable for H.I.V. patients who are critically sick, so this should be taken into consideration following a multidisciplinary discussion. A literature analysis was carried out because critical care professionals have significant moral and practical repercussions when selecting whether to assist HIV-infected patients in the I.C.U. [ABSTRACT FROM AUTHOR]

ANCE (Acute necrotizing encephalopathy of childhood) is a disease that affects children with a high fever, a respiratory or gastrointestinal infection, rapid changes in awareness, and seizures. Almost all Asian newborns and children who were previously in good health are affected by this illness. According to serial magnetic resonance imaging studies, the thalami, cerebellum, brainstem, and white matter all showed symmetric lesions in this disease. The condition has a poor prognosis with high morbidity and mortality rates. Amir Kola Children's Hospital is evaluating an A.N.E.C. in a 22-month-old kid Missense mutations were also detected in the gene that codes for the nuclear pore proteinRan Binding Protein 2 (RANBP2). Though the clinical course and prognosis of ANE differ, the characteristic of neuro radiology manifestation of ANE is multifocal symmetric brain lesions visible on computed tomography (C.T.) or magnetic resonance imaging (M.R.I.).The treatment of ANCE is still under particular observation. We provide the most up-to-date information on ANCE, emphasizing early detection and successful consultation and treatment of this rare but deadly disease. [ABSTRACT FROM AUTHOR]

Stone masonry construction is still a common practice in remote mountainous areas of many developing countries. Field investigations have shown that the traditional construction practices do not usually provide adequate seismic resistance for such buildings. This study was carried out to investigate and improve the construction of single-story stone masonry buildings in terms of safety in extreme events, economy, and ease of construction. The current construction methods were first studied through field investigations, and their deficiencies were identified. Then, improved stone masonry walls were designed that provide some confinement for the masonry by adding steel and reinforced-concrete tie-beams and tie-columns. The in-plane behavior of these walls was then studied experimentally. A total of seven stone masonry walls with different configurations of confining elements and openings were examined. These studies revealed the benefits of using steel and concrete confining elements for the improvement of in-plane strength and ductility of stone masonry walls, concrete elements being considerably more effective. Finally, a simple hysteretic model is calibrated based on the test results that can be used for numerical modeling of the in-plane behavior of confined stone masonry walls. [ABSTRACT FROM AUTHOR]

Abstract: The seismic performance of structures with irregular distribution of mass, stiffness and strength along the height, may be significantly different compared to regular structures, depending on the limit-state or the level of seismic intensity considered. In the framework of probabilistic performance based earthquake engineering, it is possible to quantify the effects of vertical irregularities on the seismic performance of structures. In this study, the seismic performance of different non-geometric vertical irregular structures is compared to a regular structure at various performance levels with a probabilistic approach. The results show that the non-uniform distribution of lateral resisting properties over the height of structure influences the seismic performance, especially at the limit-states close to collapse until global dynamic instability. These effects may be on the seismic intensity capacity and/or on the ductility capacity of the structure, based on the type and the position of vertical irregularities. Also from the standpoint of a probabilistic seismic performance based design, the vertical irregularities increase the mean annual frequency of exceeding the GI performance level by about 5% to 30%. [Copyright &y& Elsevier]

Abstract: This paper presents the seismic vulnerability and rehabilitation of a steel building with semi-rigid connections in Tehran. This 19-storey building with an asymmetric plan was constructed 30 years ago in three blocks. The qualitative vulnerability of the building was evaluated in the first step of the study, indicating its high seismic vulnerability. In the next step of the study, the quantitative vulnerability of the structure was investigated. The results show that the building was strong enough to resist gravity loads but the strength was not adequate for seismic loads. Finally, three seismic retrofitting methods consisting of concrete shear wall, steel shear wall, and steel bracing were proposed. The comparison of the three retrofitting alternatives in terms of architecture, implementation, and seismic performance showed the superiority of using the concrete shear walls over the two other alternatives. [Copyright &y& Elsevier]

Near-fault ground motions impose large demands on structures compared to ordinary ground motions. Recordings suggest that near-fault ground motions with 'forward' directivity are characterized by a large pulse, which is mostly orientated perpendicular to the fault. The maximum velocity direction (MVD) component is calculated by finding the angle that the maximum velocity resultant of the original longitudinal and transverse components will be occurred. The MVD component has larger PGV and PGD values compared to other components of near-fault ground motions. The spectral values of the MVD component are an envelope of the other decomposed components. The improvement of structural adequacy against large demands of near-fault ground motions has been the subject of research for the last decade. This study intends to provide quantitative knowledge on the near-fault ground motion demand and corresponding structural capacity requirements. The spectral quantities were computed through an attenuation relationship that is based on the near-fault ground motion records. New findings in this study are compared with the Uniform Building Code provisions and other attenuation relationships. The results demonstrate that for large magnitude events M > 7, the UBC97 near-source factors ( N, N) have more conservative values compared to the study estimates. Hence, seismic coefficients of UBC97 have serious concern for estimating strength when short distances and large magnitude events are considered. [ABSTRACT FROM AUTHOR]

A stochastic approach is adopted for the linear analysis of three-dimensional dynamic soil–structure interaction of asymmetric buildings in the time domain to evaluate the dynamic eccentricity of torsional provisions in seismic building codes. The asymmetric system is idealized as a single-storey building resting on different soil conditions. The soil beneath the superstructure is modeled as linear elastic solid elements, and the effect of the surrounded unbounded soil is considered by imposing viscous boundary elements along the sides of soil block. The contact surface between foundation mat and solid elements of soil is discretized by linear plane interface elements with zero thickness. The interface element is further developed to accommodate the proper compatibility between rigid foundation and soil. However, the method can be adapted to include the effects of soil non-linearity and slip as well as the separation of the foundation mat on the response of asymmetric systems. The response of soil–structure interaction of torsionally coupled system under an ensemble of artificial non-stationary earthquake records has been reviewed to verify the dynamic eccentricity of torsional provisions in seismic building codes. The dynamic eccentricity obtained from this study is compare to the dynamic eccentricity of Uniform Building Code (UBC, 97) and Eurocode (EC-8, 94). By taking into consideration the role of the important structural parameters and the soil–structure interaction effects, a simple equation for the design eccentricity is proposed. [Copyright &y& Elsevier]

An approach is formulated for the linear analysis of three-dimensional dynamic soil–structure interaction of asymmetric buildings in the time domain, in order to evaluate the seismic response behaviour of torsionally coupled buildings. The asymmetric building is idealized as a single-storey three-dimensional system resting on different soil conditions. The soil beneath the superstructure is modeled as linear elastic solid elements. The contact surface between foundation mat and solid elements of soil is discretised by linear plane interface elements with zero thickness. An interface element is further developed to function between the rigid foundation and soil. As an example, the response of soil–structure interaction of torsionally coupled system under two simultaneous lateral components of El Centro 1940 earthquake records has been evaluated and the effects of base flexibility on the response behaviour of the system are verified. [Copyright &y& Elsevier]

In this paper, the December 26, 2003, earthquake in the historical city of Bam is studied. The seismological aspects are considered and the earthquake source is introduced. The strong ground motion is studied and its spectra are compared to the design spectra of UBC-97 and the Iranian seismic code, as well as previous earthquakes in Iran. Finally, the structural behavior of buildings and lifeline systems in this region is studied and damages are outlined. [Copyright &y& Elsevier]

This study has been conducted to evaluate the effects of the vertical component of earthquake on the response of pure-friction base-isolated asymmetric buildings. The pure-friction base-isolated asymmetric building is idealized as a three-dimensional single-storey building resting on sliding supports. The sliding surface is modeled by interface rigid contact elements. The response of this idealized system subjected to three-component (including vertical component) and two-component (excluding vertical component) of earthquake excitations is investigated. As an example, the Northridge 1994 earthquake record is used on the structural model. The performance of asymmetric pure-friction base-isolated system is investigated with the help of peak response ratio of sliding to fixed base systems. It is observed that the vertical component of the strong earthquake excitation, significantly affects the response of pure-friction base-isolated torsionally coupled system. [Copyright &y& Elsevier]

This study has been conducted to evaluate the effects of three components of earthquake excitations on the response of the pure-friction base isolated structures. The structure is idealized as a three-dimensional single-storey building resting on the sliding support. The frictional forces mobilized at the sliding support are assumed to have the ideal Coulomb-friction characteristics. The response of this idealized system subjected to three components of El Centro 1940, Tabas 1978 and Northridge 1994 earthquakes is investigated. The effect of base vertical stresses on the lateral response of the system is illustrated by comparing the behaviour of the system subjected to three-component (including vertical component), two-component (excluding vertical component) and single-component (excluding vertical component and no interaction between the orthogonal directions) earthquake excitations. It is observed that the three-component earthquake can significantly affect the response of low period structures with the sliding support. Furthermore, it was found that the different input motions could highly influence the response of the system under three-component earthquake. [Copyright &y& Elsevier]

This study adopts a random procedure in the evaluation of the effect of the rotational component of earthquake on the accidental eccentricity of symmetric and asymmetric buildings. The spectral density function of the rotational component of earthquake acceleration (about the vertical axis) is obtained on the basis of the spectral density function of the horizontal component of earthquake acceleration. The rotational component of an earthquake can increase the response of the structure. The degree of the increase is highly dependent upon the dynamic characteristics of the system and the rotational component of the earthquake. To bring this increase under consideration, seismic codes represent a parameter referred to as accidental eccentricity, as a part of the design eccentricity. The purpose of the present study is to estimate the value of this increase and to make appropriate suggestions based on frequency domain analysis. [ABSTRACT FROM AUTHOR]