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Congenital corneal opacities (CCO) are a group of blinding corneal disorders, where the underlying molecular mechanisms are poorly understood. Phenotyping through specialized imaging and histopathology analysis, together with assessment of key transcriptomic changes (including glycosaminoglycan metabolic enzymes) in cornea(s) with CCO from a case of Fanconi anemia is the approach taken in this study to identify causal mechanisms. Based on our findings, we propose a novel mechanism and two key players contributing to CCO.Women with congenital amino acid disorders, including maple syrup urine disease (MSUD), are at risk of metabolic crisis at delivery. There are still only a few case reports of maternal MSUD globally, and we are the first to report the successful perinatal management of a woman with classical MSUD in Japan. A healthy baby was delivered by scheduled cesarean section despite the presence of several uterine fibroids. With precise diet therapy and accurate preparation, she completed the postpartum period without metabolic decompensation. Although her clinical outcome was favorable, she experienced hypoproteinemia at delivery because the available branched-chain amino acid-free medical food did not contain sufficient protein to meet the recommended nutrient intake. Therefore, this case also indicates a potential issue regarding a shortage of variations in specific amino acid-free medical food in Japan, which should be addressed to achieve a better nutrient status of adults with MSUD and other amino acid disorders.Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria (MMA), homocystinuria (HC), or combined MMA/HC, and usually suffer developmental delay and cognitive deficits. The most frequent MMADHC genetic alterations associated with disease generate MMADHC truncated proteins, in many cases due to mutations that create premature termination codons (PTC). In this study, we have performed a comprehensive and global characterization of MMADHC protein variants generated by all annotated MMADHC PTC mutations in cblD patients, and analyzed the potential of inducible translational PTC readthrough to reconstitute MMADHC biosynthesis. MMADHC protein truncation caused by disease-associated PTC differentially affected the alternative usage of translation initiation sites, protein abundance, and subcellular localization of MMADHC. Aminoglycoside compounds induced translational PTC readthrough of MMADHC truncated variants, allowing the biosynthesis of full-length MMADHC in a PTC-specific manner. Our results suggest that translational PTC readthrough-based interventions could complement current therapies for cblD patients carrying specific MMADHC PTC mutations.
Multi-virus real-time polymerase chain reaction (PCR) system is able to simultaneously detect 163 viruses using a multiplex Taqman real-time PCR system. We present a case of acute liver failure (ALF) of unknown etiology diagnosed with echovirus 30 infection via multi-virus real-time PCR.
A previously healthy 66-year-old man had a persistent fever and developed ALF of unclear etiology. Although viral infection was suspected, serological screening showed no evidence of acute viral infections such as hepatitis A, B, C and E, Epstein-Barr virus, herpes simplex virus, and varicella zoster virus. Multi-virus real-time PCR revealed the presence of enterovirus and echovirus 30 genomes, and reverse transcription-PCR using enterovirus-specific primers confirmed the presence of enterovirus genome in serum samples at the time of admission. Anti-echovirus antibody titers showed an increase in paired sera. In spite of multimodality treatment, the patient died due to multiple organ failure. Histological analysis in autopsy revealed extensive coagulative necrosis of the hepatocytes and immunohistochemical analysis showed the expression of enterovirus antigens in necrotic hepatocytes.
We present here a case of echovirus 30 associated with ALF. Multi-virus real-time PCR is useful for detection of virus for patients with ALF of unknown etiology suspected of harboring a viral infection.
We present here a case of echovirus 30 associated with ALF. Ku-0059436 Multi-virus real-time PCR is useful for detection of virus for patients with ALF of unknown etiology suspected of harboring a viral infection.Bacillus circulans is mainly considered an opportunistic pathogen in immunocompromised patients. However, many different infections have been described in the literature bacteremia, abscesses, meningitis, endophthalmitis, and wound infections. We observed a spondylodiscitis caused by Bacillus circulans in an immunocompetent patient. To date, this is the first case reported in literature. Vertebral osteomyelitis represents for clinicians a challenging infection to manage and treat, because of its insidious and indolent course. The diagnosis is frequently difficult and can often be delayed for several months and initially be misdiagnosed and mismanaged. For this reason, the clinical case was described and all published cases of infection caused by Bacillus circulans were reviewed.We describe a case of a 56 year-old male who presented to the hospital with pneumonia and bacteremia secondary to Streptococcus pneumoniae. After admission and initiation of appropriate antibacterial therapy he began to complain of scrotal pain. Ultrasound of the testes confirmed findings of left-sided epididymitis. Urine culture, urine gonorrhea and chlamydia nucleic acid amplification and HIV testing were negative. Clinical picture suggested seeding of the epididymis with Streptococcus pneumoniae and resulting infection.Group C Streptococcus (GCS) is part of the normal commensal flora of the upper airway, as well as frequently colonizes the skin, gastrointestinal tract, and female genital tract. It can also be implicated in mono- and polymicrobial infections of the skin and soft tissue, pharyngitis, bacteremia, endocarditis, septic arthritis, osteomyelitis, and meningitis. Our case study features a previously healthy 65-year-old male, who retired as a veterinarian one month prior, with Group C Streptococcus bacteremia complicated by septic polyarthritis, native mitral valve endocarditis, and lumbar discitis/osteomyelitis.
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