Nephrotic syndrome after treatment with d-penicillamine in a pediatric patient with Wilson's disease

We describe a case of nephrotic syndrome (NS) after a 7 months treatment with D-penicillamine in a 14 years old girl with Wilson's disease , with a prompt regression at the discontinuation of the drug. Kidney function, proteinuria in particular, must be always monitored during the chelating therapy, and the drug must be discontinued as soon as signs of renal injury are detected

A novel alpha1-antitrypsin null variant (PiQ0Milano)

Alpha1-antitrypsin deficiency is an autosomal recessive disease characterized by reduced serum levels of alpha1-antitrypsin (AAT) due to mutations in the SERPINA1 gene causing early onset pulmonary emphysema and, occasionally, chronic liver disease. We report an incidental finding of a novel null AAT allele, Q0Milano, consisting of a 17 nucleotides deletion in exon 3 of SERPINA1 gene, in an Italian child with persistently increased liver enzymes, a mild decrease in circulating AAT levels and without any pulmonary disease. Q0Milano variant results in an unfunctional protein lacking of AAT active site, as the resultant protein is truncated near PiS locus involved in AAT protein stability

Predation and the Maintenance of Color Polymorphism in a Habitat Specialist Squamate

Multiple studies have addressed the mechanisms maintaining polymorphism within a population. However, several examples exist where species inhabiting diverse habitats exhibit local population-specific polymorphism. Numerous explanations have been proposed for the maintenance of geographic variation in color patterns. For example, spatial variation in patterns of selection or limited gene flow can cause entire populations to become fixed for a single morph, resulting in separate populations of the same species exhibiting separate and distinct color morphs. The mottled rock rattlesnake (Crotalus lepidus lepidus) is a montane species that exhibits among-population color polymorphism that correlates with substrate color. Habitat substrate in the eastern part of its range is composed primarily of light colored limestone and snakes have light dorsal coloration, whereas in the western region the substrate is primarily dark and snakes exhibit dark dorsal coloration. We hypothesized that predation on high contrast color and blotched patterns maintain these distinct color morphs. To test this we performed a predation experiment in the wild by deploying model snakes at 12 sites evenly distributed within each of the two regions where the different morphs are found. We employed a 2×2 factorial design that included two color and two blotched treatments. Our results showed that models contrasting with substrate coloration suffered significantly more avian attacks relative to models mimicking substrates. Predation attempts on blotched models were similar in each substrate type. These results support the hypothesis that color pattern is maintained by selective predation

Nephrotic syndrome after treatment with d-penicillamine in a pediatric patient with Wilson’s disease

We describe a case of nephrotic syndrome (NS) after a 7 months treatment with D-penicillamine in a 14 years old girl with Wilson’s disease , with a prompt regression at the discontinuation of the drug. Kidney function, proteinuria in particular, must be always monitored during the chelating therapy, and the drug must be discontinued as soon as signs of renal injury are detected

Pediatric autoimmune liver disease and extra-hepatic immune-mediated comorbidities

Background: Autoimmune liver disease (AILD) includes autoimmune hepatitis (AIH) and autoimmune sclerosing cholangitis (ASC). AILD is often associated with other extra-hepatic immune-mediated disorders (EDs), but there are few pediatric studies available to date. In this study we evaluated the association between AILD and EDs in our pediatric series. Methods: In this single centre retrospective study 48 patients (39 AIH and 9 ASC children) were evaluated. Thirty-six children were primarily referred to our Centre for liver disease suspicion, while the remaining twelve had a previous diagnosis of EDs. All the patients were screened for various EDs at AILD diagnosis and yearly during the follow-up. Results: Mean duration of follow-up was 9 years and 1 month. Twenty-two (46%) patients had a diagnosis of EDs. Ulcerative colitis (UC) was the most frequent EDs (9 patients), followed by autoimmune thyroid disease (5 patients) and celiac disease (5 patients). In 7 out of 9 UC patients, ASC was present. Conclusions: Our study showed a high association (46%) between AILD and EDs. In particular, in 8 out of 9 ASC patients UC was diagnosed (p-value 0.007). It is important to look for EDs in AILD children and, conversely, AILD in EDs children with abnormal liver function tests

Analysis of infiltrating epitheliomas of the nose examined from 1986 to 1995

Epitheliomas of the nose are frequently highly aggressive lesions with wide cutaneous-subcutaneous growth or an infiltrative growth pattern, especially when located at the columellar base, the alar base, and toward the inner chantal region. The aim of this study was to review this lesion with respect to location, recurrence, and treatment