Medicine
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Case Reports
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.
Congenital nephrotic syndrome (CNS) is a heterogeneous disorder in which massive proteinuria, hypoproteinemia, and hyperlipidemia and marked edema are the main manifestations before 3 months-of-age. Here, we present a case involving the genetic diagnosis of a child with CNS. ⋯ Whole exome sequencing and Sanger sequencing confirmed that the infant had CNS. Our study identified a novel mutation in an infant, thus expanding the gene-mutation spectrum of the NPHS1 gene, thus providing an efficient prenatal screening strategy and early genetic counseling.
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Case Reports
Using acellular porcine dermal matrix (XCM Biologic® Tissue Matrix) to repair a giant omphalocele: A case report.
An omphalocele is an abdominal wall birth defect, and a giant omphalocele (GO) is defined as an omphalocele having a diameter >5 cm or containing a herniated liver. GOs are usually treated in stages and in this case, during the silo reduction, dehiscence occurred at the suture site of the axis ring and skin edge, which was repaired using synthetic absorbable mesh. ⋯ Repair of GOs using an acellular porcine dermal matrix can be considered a viable treatment option.
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Case Reports
Effect of respiratory training on respiratory failure secondary to unilateral phrenic nerve injury: A case report.
Diaphragm is one of the most important respiratory muscles dominated by the phrenic nerve. Phrenic nerve injury would induce a series of clinical symptoms, including respiratory failure. Respiratory training could assist in regular treatment in improving the respiratory function and daily ability of respiratory failure patients. ⋯ The combination of rehabilitation is suitable for the treatment of respiratory failure patients with clear causes of phrenic nerve injury. For patients with unexplained causes, rehabilitation could also be performed before the diagnosis. Patients with irreversible injury need long-term and family rehabilitation prescriptions.
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Anti-GQ1b antibody syndrome originates in the peripheral nervous system or the central nervous system. Various overlapping syndromes and atypical manifestations are also seen in clinic. It is rare to see multiple sites (almost all targets) of central and peripheral damage at the same time, resulting in brain death-like changes in patient. ⋯ The concept of anti-GQ1b antibody syndrome is not only beneficial for clinical diagnosis, but also beneficial for understanding the continuous disease spectrum with the same etiology and different clinical manifestations. The pathogenesis of each subtype has not been fully defined. There are mild patients with isolated syndromes and severe patients with multiple subtypes overlapping. Encounter severe patients but also active response, the general prognosis is good.
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Case Reports
Acute osteomyelitis of the patella due to Pseudomonas aeruginosa in an immunocompetent child: A case report.
Plentiful vascularity and lack of the physis are thought to render the patella less vulnerable to osteomyelitis. Pseudomonas aeruginosa (PA) is an opportunistic pathogen predominantly affecting immunocompromised hosts. Despite the ubiquitous nature of PA, osteomyelitis of the patella caused by PA has been rarely reported in children. ⋯ This is a rare case of Pseudomonas osteomyelitis of the patella in a healthy pediatric patient. Uncommon osteochondral sequelae occurred probably because of a protracted arthritis of the affected knee. We would like to emphasize the ineffectiveness of continuous irrigation without antibiotics for Pseudomonas aeruginosa-associated osteomyelitis.