In the last decades, the spectrum of primary immunodeficiency diseases (PIDs) has greatly widened, including disorders that can variably impair different immune functions. Although several case series have been published for each disorders, no data is available on how these changes have reflected in the clinical practice of pediatric departments. Aim of the study: Based on the analysis of registry data, we evaluated the distribution of diagnoses among different PID categories, the clinical features and diagnostic investigations at disease onset in two pediatric departments, namely in Slovenia and in Italy. Results: 136 patients have been diagnosed at the two centers, with a widespread distribution into different disease categories. Considering the 109 patients who were still alive at the last follow-up, prevalence of pediatric-onset-PID in our area was roughly estimated to be around 31 per million inhabitants. Diagnosis was genetically confirmed in 79 cases (58.1%), with 29 different genes found mutated. The most common presenting symptoms were: recurrent infections (52.2%), inflammatory manifestations (36.7%), specific syndromic features (30.8%), unusual infections (1.6%) and failure to thrive/growth retardation (22.8%). Treatments at follow-up include antimicrobials (20), hematopoietic stem cell transplantation (17), immunoglobulin replacement therapy (16), and immunosuppressants (9). Conclusions: A huge number of different PIDs are encountered in pediatric departments, often presenting with complex clinical pictures. Our results suggest that the identification of PID may be improved by a multidisciplinary approach, attaching importance not only to infections but also to other symptoms arising from a defective immune function.

BACKGROUND: During colorectal surgical dissections, recognizing essential anatomy is crucial to prevent iatrogenic injury. This study builds forth upon previously identified new inherent anatomical spectral contrasts in fresh human colonic samples. AIM: Assessment of optical spectrometry for discriminating critical tissues (colon, adipose tissue, artery, vein and ureter) in colorectal surgery. PROJECT DESCRIPTION: Acquisition of in vivo AND ex vivo wide-band diffuse reflectance spectra (350-1830nm) during colorectal surgery, analysis of all separate tissue spectra using principal component analysis (PCA) and comparing tissue categories. PRELIMINARY RESULTS: In 6 consecutive patients 156 in vivo spectra (32 tissue spots) and 118 ex vivo spectra (24 tissue spots) were collected. PCA derived parameters were used to differentiate between tissue types. Distinctive spectral contrast features (partly within wavelengths invisible to the naked human eye) could indeed be identified for all tissue types. Visualizing these invisible contrasts may enhance surgical imaging (either during open or endoscopic surgery).

INTRODUCTION: In thyroid and parathyroid surgery iatrogenic injury of the parathyroid glands or the recurrent laryngeal nerve (RLN) is a possible complication that needs to be prevented. The visible contrast between thyroid and parathyroid tissue is delicate to observe. The aim of this pilot study was to collect in vivo spectral reflectance-signatures of critical tissue types encountered during thyroid and parathyroid surgery, and to assess the presence of useful spectral distinctive features that might be applied for future devices enabling intraoperative tissue-specific image contrast enhancement. METHODS: Wide-band spectra (350-1830nm, 1nm resolution) were collected in vivo during thyroid and parathyroid surgery. Subjected to tissue type accessibility, on average 2 tissue types per patient were measured. For each tissue type, 5 spectra were recorded per site, covering 1-2 sites per tissue type. Mean tissue spectra were calculated for all measured tissue types. After visually comparing these mean spectra, two spectral signature features for all individual measured sites were extracted: 1. Slope within the 650-700nm range; 2. Amplitude gradient between dominant local reflectance minimum and maximum within 1350-1830nm. RESULTS: In 10 consecutive patients 158 in vivo spectra were recorded on 32 tissue sites. Based on the mean diffuse reflectance spectra for thyroid, parathyroid and RLN, the estimated features for the three tissue types were plotted. Significance was tested using a paired Student's t-test and by applying a Holm-Bonferoni correction (criterion set to p<0.025). Regarding feature 1 significance was found for parathyroid (p=0.003) and RLN (p=0.006). With respect to feature 2 RLN was significant (p=0.001). Both investigated spectral features seem to offer added value to distinguish between the studied tissue types. CONCLUSION: To our knowledge, this study is the first to date to investigate in vivo spectral reflectance-signatures of critical tissues encountered during parathyroid and thyroid surgery, far beyond the spectral detection boundary of the human eye (i.e. the infrared light spectrum). Within the recorded spectral reflectance-signatures we identified two spectral features which may be used for further developments towards intraoperative image contrast enhancement and thereby facilitate differentiation of tissue structures, either during open or endoscopic surgery.