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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]

Introduction: Toxoplasma gondii (T. gondii) infection in dogs is distributed globally. Given the potential impact of T. gondii on human reproductive health and its zoonotic potential, focusing on infected dogs with breeding disorders may provide valuable new insights into the role of toxoplasmosis on reproductive disorders. This study aimed to elucidate the potential role of T. gondii on reproductive disorders by conducting a serosurvey on a kennel with breeding disorders in Kerman, Iran., Materials and Methods: Purebred dogs with American Kennel Club-certified Pedigrees were randomly selected in both genders from a breeding kennel with a history of reproductive problems such as neonatal deaths, abortion stillbirths, and male infertility. Blood samples were collected from selected dogs, and serosurvey was done with a Toxo-Screen kit using the modified agglutination test (MAT)., Findings: From 46 selected breeding dogs, 20 (43.5 %) were positive in the Toxoplasma MAT test, consisting of 24 samples (52.17 %) with different reproductive disorders and 22 (47.83 %) healthy dogs. However, the presence of reproductive disorder had no significant relationship with seropositivity (p = 0.067). Seroprevalence of toxoplasmosis had no significant relationship with sex (p = 0.28) and age (p = 0.18) in the studied population., Conclusion: Screening with the standard MAT method reduces the risk of transmitting toxoplasmosis by preventing the entry of infected dogs into the kennel, identifying the infected cases to start specific treatments, optimizing the proper nutritional conditions, and ensuring the hygiene of the environment. Fresh/refrigerated raw meat, unpasteurized milk feeding, rodent infestation of grass-covered dog runs, and the main dry food storage facilities were the primary risk factors in kennels., Competing Interests: Declaration of competing interest All authors declare that they have no conflicts of interest., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Thyroid cancer is the most frequent endocrine malignancy and accounts for approximately 1% of all diagnosed cancers. A variety of mechanisms are involved in the transformation of a normal tissue into a malignant one. Loss of tumor-suppressor gene (TSG) function is one of these mechanisms. The normal functions of TSGs include cell proliferation and differentiation control, genomic integrity maintenance, DNA damage repair, and signaling pathway regulation. TSGs are generally classified into three subclasses: (i) gatekeepers that encode proteins involved in cell cycle and apoptosis control; (ii) caretakers that produce proteins implicated in the genomic stability maintenance; and (iii) landscapers that, when mutated, create a suitable environment for malignant cell growth. Several possible mechanisms have been implicated in TSG inactivation. Reviewing the various TSG alteration types detected in thyroid cancers may help researchers to better understand the TSG defects implicated in the development/progression of this cancer type and to find potential targets for prognostic, predictive, diagnostic, and therapeutic purposes. Hence, the main purposes of this review article are to describe the various TSG inactivation mechanisms and alterations in human thyroid cancer, and the current therapeutic options for targeting TSGs in thyroid cancer.

Objective: To find out factors that influence the use/non-use of pedestrian bridges in Northern Iran., Methods: In this observational study, 4 pedestrian bridges at four different places in Rasht, North of Iran was studied. In addition to demographic data, pedestrians were interviewed for reasons of use/not use the pedestrian bridge. The data analyzed with SPSS software version 18 by non-parametric tests such as Chi Square., Results: From all 499 participants, more than one-third of pedestrians had not used pedestrian bridges. The most reasons for bridges use among respondents were feeling of safety and security (79.2%) and obey the rules (53.6%). The reasons for the non-use of bridges were time saving (63.7%), laziness (48.7%) and inappropriate of the bridge (34.2%). There were no significant differences in age, sex, education level, and road accidents' history with use of bridge but there was a significant difference between the bridge usage with having a driver's license, rash-hour time, and the presence of a mechanical elevator ( p <0.001)., Conclusion: The results of this study show that in order to increase the pedestrian bridges use, it is necessary to pay more attention to make standard facilities such as installing escalators or elevators of these bridges., Competing Interests: There are no conflicts of interest.