Hyperspectral imaging based method for fast characterization of kidney stone types

The formation of kidney stones is a common and highly studied disease, which causes intense pain and presents a high recidivism. In order to find the causes of this problem, the characterization of the main compounds is of great importance. In this sense, the analysis of the composition and structure of the stone can give key information about the urine parameters during the crystal growth. But the usual methods employed are slow, analyst dependent and the information obtained is poor. In the present work, the near infrared (NIR)-hyperspectral imaging technique was used for the analysis of 215 samples of kidney stones, including the main types usually found and their mixtures. The NIR reflectance spectra of the analyzed stones showed significant differences that were used for their classification. To do so, a method was created by the use of artificial neural networks, which showed a probability higher than 90% for right classification of the stones. The promising results, robust methodology, and the fast analytical process, without the need of an expert assistance, lead to an easy implementation at the clinical laboratories, offering the urologist a rapid diagnosis that shall contribute to minimize urolithiasis recidivism.     

Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course

PHACE is a rare congenital neurocutaneous syndrome where posterior fossa malformations, hemangiomas, cerebrovascular anomalies, aortic arch anomalies, cardiac defects, and eye abnormalities are variably associated. We describe the prenatal detection and the postnatal course of a child with PHACE syndrome with a unique type of aortic arch anomaly consisting of proximal interruption of the aortic arch and persistence of the fifth aortic arch. The fifth aortic arch represented in this case a vital systemic‐to‐systemic connection between the ascending aorta and the transverse portion of the aortic arch allowing adequate forward flow through the aortic arch without surgical treatment.     

Is primary meningococcal arthritis in children more frequent than we expect? Two pediatric case reports revealed by molecular test

Background

Primary meningococcal arthritis is a rare infectious disease that occurs in less than 3% of meningococcal infections and is characterized by arthritis without meningitis, fever, rash, or hemodynamic instability Barahona [Case Rep Orthop 4696014:2017 ]. There are no validated clinical criteria that can be used for the diagnosis. We present two pediatric cases of atypical presentation of meningococcal disease revealed by molecular tests.

Case presentation

The clinical presentation of the two children (6- and 9-years-old) was characterized by signs of arthritis. By Real Time Polymerase Chain Reaction (RT-PCR), we identified N. meningitidis serogroup Y in the joint fluid in both cases. After specific antimicrobial treatment, the clinical conditions of the two patients quickly improved during hospitalization. Conclusions. We believe that the incidence of meningococcal arthritis could be underestimated in those settings where the use of RT-PCR is limited. Clearer data on the incidence of meningococcal disease would help to design specific treatments and the best possible national vaccine strategies [Fiji Sci Rep 23:39784, 2016, J Infect 67:385-90, 2013].

     

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

Purpose

Biallelic pathogenic NBAS variants manifest as a multisystem disorder with heterogeneous clinical phenotypes such as recurrent acute liver failure, growth retardation, and susceptibility to infections. This study explores how NBAS-associated disease affects cells of the innate and adaptive immune system.

Methods

Clinical and laboratory parameters were combined with functional multi-parametric immunophenotyping methods in fifteen NBAS-deficient patients to discover possible alterations in their immune system.

Results

Our study revealed reduced absolute numbers of mature CD56^dim natural killer (NK) cells. Notably, the residual NK cell population in NBAS-deficient patients exerted a lower potential for activation and degranulation in response to K562 target cells, suggesting an NK cell–intrinsic role for NBAS in the release of cytotoxic granules. NBAS-deficient NK cell activation and degranulation was normalized upon pre-activation by IL-2 in vitro, suggesting that functional impairment was reversible. In addition, we observed a reduced number of naïve B cells in the peripheral blood associated with hypogammaglobulinemia.

Conclusion

In summary, we demonstrate that pathogenic biallelic variants in NBAS are associated with dysfunctional NK cells as well as impaired adaptive humoral immunity.

     

Treatment and monitoring of children with chronic hepatitis C in the Pre‐DAA era: A European survey of 38 paediatric specialists

The burden of paediatric Hepatitis C virus (HCV) infection across Europe is unknown, as are current policies regarding monitoring and treatment. This collaborative study aimed to collect aggregate data to characterise the population of ≤18‐year‐olds with HCV infection in specialist follow up in a 12‐month period (2016) across the PENTAHep European consortium, and investigate current policies around monitoring and treatment. A cross‐sectional, web‐based survey was distributed in April 2017 to 50 paediatricians in 19 European countries, covering patients' profile, and monitoring and treatment practices. Responses were received from 38/50 clinicians collectively caring for 663 children with chronic HCV infection of whom three‐quarters were aged ≥6 years and 90% vertically infected. HCV genotype 1 was the most common (n 380; 57.3%), followed by genotype 3, 4 and 2. Seventeen children (3%) with chronic HCV infection were diagnosed with cirrhosis, and six were reported to have received liver transplantation for HCV‐related liver disease. The majority (n 425; 64.1%) of the European children with HCV infection remained treatment‐naive in 2016. Age affected clinicians' attitudes towards treatment; 94% reported being willing to use direct‐acting antivirals, if available, in adolescents (aged ≥11 years), 78% in children aged 6‐10 and 42% in those 3‐5 years of age (Pearson correlation coefficient ?0.98; P 0.0001). This survey provides the largest characterisation of the population of children in clinical follow‐up for chronic HCV infection in Europe, alongside important contextual information on their management and treatment. Discussion is needed around strategies and criteria for use of direct‐acting antivirals in these children.     

New treatments for chronic hepatitis C: An overview for paediatricians

Pegylated interferon(IFN)α-2a or 2b in combination with ribavirin for children aged 3 years and older is the standard treatment for paediatric chronic hepatitis C.This treatment regimen was developed firstly in adults.In recent years,a number of direct-acting antiviral agents(DAAs)are under development for treatment of chronic hepatitis C virus(HCV)infection.These agents block viral replication inhibiting directly one of the several steps of HCV lifecycle.DAAs are classified into several categories based on their molecular target:HCV NS3/4A protease inhibitors,HCV NS5B polymerase inhibitors and HCV NS5A inhibitors.Other promising compounds are cyclophilin A inhibitors,mi-RNA122and IFN-λ.Several new drugs associations will be developed in the near future starting from the actual standard of care.IFN-based and IFN-free regimens are being studied in adults.In this constantly evolving scenario new drug regimens targeted and suitable for children would be possible in the next future.Especially for children,it is crucial to identify the right combination of drugs with the highest potency,barrier toresistance and the best safety profile.