WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).

Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the impairment of at least one major ectodermal-derived structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24.8%), 11 of which were novel variants. The phenotype was evaluated through a detailed clinical examination of the major and minor ectodermal-derived structures. This study is the first to show that, after ED1, WNT10A is the second molecular candidate for EDI in a large Italian Caucasian population. The study confirmed that Phe228Ile is the most frequent WNT10A variant in Caucasian populations, and that WNT10A mutations are associated with large variability in EDI.

Studies on the Biology of Hypogeococcus pungens (sensu stricto) (Hemiptera: Pseudococcidae) in Argentina to Aid the Identification of the Mealybug Pest of Cactaceae in Puerto Rico.

Hypogeococcus pungens Granara de Willink, sensu stricto, is a serious pest of cacti in Puerto Rico threating many Caribbean islands. A classical biological control program for H. pungens was initiated for Puerto Rico in 2010 with a survey for natural enemies of H. pungens in its native range of Argentina. Biological differences were observed between populations of H. pungens sampled on Amaranthaceae and Cactaceae. Molecular studies suggested that H. pungens populations from different host plant families are likely a complex of species. Our objective was to study the biology of H. pungens sensu stricto on specimens collected in the same locality and host plant as the holotype [Tucumán Province, Argentina; Alternanthera pungens Kunth (Amaranthaceae)]. We were interested in the reproductive biology of females, longevity and survival of adults, the effect of temperature on the development, and nymph performance (survival and development) on five Cactaceae species. We found that H. pungens s.s showed marked biological differences from the populations collected on Cactaceae and exported to Australia for the biological control of the cactus Harrisia spp. The main differences were the presence of deuterotoky parthenogenesis and the fact that H. pungens did not attack Cactaceae in the laboratory. Our results provide biological evidence that H. pungens is a species complex. We propose that the population introduced to Australia is neither Hypogeococcus festerianus Lizer y Trelles nor H. pungens, but an undescribed species with three circuli, and that the Hypogeococcus pest of cacti in Puerto Rico is not H. pungens.

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.

Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care.

The effect of a passive stretch training protocol on performance during a drop jump in humans.

AIM: Our study's aim is to show how a five-week stretch training protocol, based on passive stretching, can change muscle performance during a drop jump (stretch shortening cycle). METHODS: This study observes in 8 healthy subjects (four males and four females), the effect of a 5-week passive stretch training protocol on the stretch shortening cycle (SSC) during the performance of a drop jump, and identify the architectural changes in the muscle. Subjects underwent measurements of their drop jump performance 3 times before, and 3 times after, the stretch training protocol. For the muscle tendon unit (MTU), changes were measured using the Hawkins and Hull's model. In order to calculate the length changes in the MTU, we measured the ankle and knee angles. For changes in the fascicle, the pennation angle and the thickness of the gastrocnemius medialis (GM) muscle were measured. RESULTS: After the 5-week stretch training protocol, a significant increase in flexibility was observed in the fascicle during the first phase of the jump (a shortening of 10% after training vs. 20% before). No significant change was observed in the tendon, while the MTU showed a highly significant improvement (P<0.01) in muscle compliance during the landing phase. The average performance during the drop jump also showed a highly significant change (P<0.01). CONCLUSION: The results show a higher degree of flexibility in the MTU, enabled the latter to store more energy which was then converted to kinetic energy during the push-off phase of the drop jump.

Did the 2018 megadrought change the partitioning of growth between tree sizes and species? A Swiss case-study.

By killing or weakening trees, drought could change the partitioning of growth between tree sizes or species, thereby altering stand structure. Growth partitioning, often quantified using the growth dominance coefficient (DC) or the shape of tree size versus growth relationships (SGR), indicates the relative contribution of differently sized trees to the total stand growth. Changes in growth partitioning due to droughts are rarely examined but provide valuable information that links tree- and stand-level responses to droughts. The objective of this study was to test whether the 2018 European megadrought altered the growth partitioning among tree sizes and species. For this purpose, we first evaluated whether DC or SGR can be calculated from small sample sizes of trees typical of individual forest inventory plots. DC, and particularly SGR, were sensitive to sample size, forest type (even-aged and uneven-aged), target variable (tree diameter, basal area or stem mass) and range of tree sizes within the sample. SGR could therefore not be used for our analyses. We found no differences in DC prior to and during the 2018 drought. However, when considering only beech (Fagus sylvatica)-dominated stands, DC was lower during post-drought years than during the 2018 drought. The growth of larger trees, especially beech, was more negatively affected during post-drought years. Therefore, an extreme drought event can indeed alter the growth partitioning within forest stands. The DC indicates such changes in partitioning and, hence, which trees can be selected for commercial thinning, or released from competition, to minimize potential impacts of droughts.

Preliminary considerations on the application of the voice handicap index to paediatric dysphonia.

Dysphonia is a common paediatric condition. Adult voices are usually evaluated using a set of minimal basic measurements including: endoscopic examination, aerodynamics, perception, acoustics, and self-assessment by the patient. The Voice Handicap Index is the most widely used self-assessment tool, but its use in the paediatric setting has never been reported. Aim of this study was to report Voice Handicap Index ratings in a group of dysphonic children, multi-modally assessed before and after voice therapy. The study involved 28 children (16 female, 12 male, mean age 10.9 years (range 6-12)) presenting chronic hoarseness due to vocal fold nodules (18 cases), unilateral localised oedema (6 cases) or recurrent laryngeal paralysis (4 cases). All received voice therapy for 5-6 months, and underwent voice assessments based on video-endoscopy ratings (size of nodule/ oedema or glottic closure in the case of recurrent laryngeal paralysis), maximum phonation time, GIRBAS scale, spectrograms and a perturbation analysis. All patients also completed the Voice Handicap Index. Aerodynamic, acoustic, perceptual and self-assessment data, before and after voice therapy, were compared using Wilcoxon's test and Student's t test. Correlations between the Voice Handicap Index domains were measured by means of Pearson's correlation coefficient. Post-treatment measurements showed that the nodules/oedema had decreased in size in 18 children following therapy, and two subjects with recurrent laryngeal paralysis showed improved glottic closure. Mean maximum phonation time increased slightly, but the difference was not significant. There was a general reduction in perceptual severity, but this was only significant for parameters G, B and A. Spectrographic analysis showed no significant improvement and, although the mean perturbation analysis values improved, only the difference in jitter values was significant (p = 0.016). Voice Handicap Index was applicable in all cases, and showed a clear and significant improvement (p = 0.0006). The correlations between the three Voice Handicap Index factors were close; no correlation was found between the functional domain and the physical and emotional domains. The Voice Handicap Index is a useful tool in children with dysphonia, but an adapted version validated for paediatric patients is essential.

Preliminary study of sentinel node identification with 99mTc colloid and blue dye in patients with endometrial cancer.

AIMS AND BACKGROUND: Intraoperative lymphatic mapping and sentinel node (SLN) biopsy have generated a tremendous amount of interest and are already established as part of the standard practice in the surgical management of breast cancer and melanoma. To reduce extensive radical procedures and decrease the morbidity in the treatment of gynecologic malignancies, much effort is being made to use less aggressive interventions. The purpose of our study was to determine the feasibility of SLN mapping in a group of patients with endometrial cancer at early stages. METHOD AND STUDY DESIGN: Between September 2000 and May 2001 11 patients with endometrial cancer FIGO stage Ib (n = 10) and IIa (n = 1) underwent laparoscopic SNL detection during laparoscopy-assisted vaginal hysterectomy with bilateral salpingo-oophorectomy and bilateral systematic pelvic lymphadenectomy. Radioactive isotope injection was performed 24 hours before surgery and blue dye injection was performed just before surgery in the cervix at 3,6, 9 and 12 hours. A 350 mm laparoscopic gamma scintyprobe MR 100 type 11, 99mTc settled (Pol Hi Tech), was used intraoperatively for SLN detection. RESULTS: Seventeen (17) SLNs were detected with lymphoscintigraphy (six bilateral and five unilateral). At laparoscopic surgery we found the same locations belonging at internal iliac lymph nodes (the so-called Lebeuf-Godard area, lateral to the inferior vesical artery, ventral to the origin of the uterine artery and medial or caudal to the external iliac vein). Fourteen (14) SLNs were negative on histological analysis and three were positive for micrometastases (mean SLN sections = 60). All other pelvic lymph nodes were negative at histological analysis. The same SLN locations detected with the gamma scintyprobe were observed at laparoscopy after patent blue dye injection. CONCLUSIONS: Our preliminary data suggest that combined 99mTc-labeled colloid and vital blue-dye techniques are feasible for SLA detection in endometrial cancer; they represent a very promising tool to transform the management of early-stage endometrial cancer. The clinical validity of this combined technique should be evaluated prospectively.

[Ovarian tumefactions: the advantages and limits of echo-guided needle aspiration. Our experience]. / Tumefazioni ovariche: vantaggi e limiti dell'agoaspirazione ecoguidata. Nostra esperienza.

One-hundred-seventy-five patients with a probably benign ovarian cyst were submitted to transvaginal ultrasound-guided needle aspiration (TVUSGA) for diagnostic and therapeutic purpose. Recovery was obtained in 68% of serous cysts (130 patients). In 34 endometriotic cysts transvaginal ultrasound guided needle aspiration has been an important diagnostic tool and it made possible a better therapeutic approach. The cytologic examination of aspirated benign and malignant cyst fluid didn't give a satisfactory result every time. In conclusion, the transvaginal ultrasound guided needle aspiration has been a good tool in the treatment of serous cysts and a diagnostic aid for endometriotic pathology.

[Postoperative infections and antibiotic prophylaxis in radical hysterectomy. Retrospective study]. / Infezioni postoperatorie e profilassi antibiotica nell'isterectomia radicale. Studio retrospettivo.

Radical hysterectomy is associated with a high risk of postoperative infectious morbidity. A series of 73 patients who underwent abdominal radical hysterectomy with pelvic lymphadenectomy is presented. Hospital charts were reviewed to determine the influence of surgical characteristics and of different antibiotic prophylaxis regimens on postoperative septic complications. The overall incidence of postoperative infections was 31.5%; in 13 patients had urinary tract infections (17.7%), 3 surgical site-related infections (4.1%) and 6 febrile morbidity (8.2%). There were also 3 cases of phlebitis and 3 infectious events at distant sites. No interaction was observed between the examined risk factors and the overall infectious morbidity. Time of surgical procedure and average blood transfusion show a trend toward increased values in patients with complications compared to patients with regular postoperative course. The most important current controversy about the use of prophylaxis in radical hysterectomy concerns the duration of postoperative treatment. In this series the major part of the subjects received a long-term antibiotic prophylaxis regimen (greater than 72 hours), and only 18% received a perioperative prophylaxis. Women without postoperative complications were more frequently treated with a long-term antibiotic prophylaxis (82%) compared to women with infectious morbidity (65%). Moreover, in patients with complications, the proportion of cases who needed an additional antibiotic therapy was lower in the group receiving long-term prophylaxis (20%) compared to the short-term group (83%).

Sentinel Lymph Node (SLN) laparoscopic assessment early stage in endometrial cancer.

BACKGROUND: The aim of the study was to demonstrate the validity of sentinel lymph node (SLN) detection after injection of radioactive isotope and patent blue dye in patients affected by early stage endometrial cancer. The second purpose was to compare radioactive isotope and patent blue dye migration. METHODS: Between September 2000 and May 2001, 11 patients with endometrial cancer FIGO stage Ib (n=10) and IIa (n=1) underwent laparoscopic SLN detection during laparoscopic assisted vaginal hysterectomy with bilateral salpingo-oophorectomy and pelvic bilateral systematic lymphadenectomy. Radioactive isotope injection was performed 24 ours before surgery and blue dye injection was performed just before surgery in the cervix at 3, 6, 9 and 12 hours. A 350 mm laparoscopic gamma-scintiprobe MR 100 type 11, (99m)Tc setted (Pol.Hi.Tech.), was used intraoperatively for detecting SLN. RESULTS: Seventeen SLN were detected at lymphoscintigraphy (6 bilateral and 5 monolateral). At laparoscopic surgery the same locations were found belonging at internal iliac lymph nodes (the so called "Leveuf-Godard" area, lateral to the inferior vescical artery, ventral to the origin of uterine artery and medial or caudal to the external iliac vein). Fourteen SLN were negative at histological analysis and only 3 positive for micrometastasis (mean SLN sections = 60. All the other pelvic lymph nodes were negative at histological analysis. The same SLN locations detected with g-scintiprobe were observed during laparoscopy after patent blue dye injection. CONCLUSIONS: If the sensitivity of the assessment of SLN is confirmed to be 100%, this laparoscopic approach could change the management of early stage endometrial cancer. The clinical validity of this technique must be evaluated prospectively.

[Atrophy of the oro-pharyngeal mucosa caused by vitamin B12 and folic acid deficiency. Etiopathologic aspects and clinico-therapeutic problems]. / Atrofia delle mucose oro-faringee da carenza di vitamina B12 ed acido folico. Aspetti eziopatogenetici e problematiche clinico-terapeutiche.

BACKGROUND: By atrophy, the decrease in volume of the cell due to loss of cell substances is intended. When a sufficiently high number of cells is involved, the whole tissue or organ decreases in volume or becomes atrophic. The oropharyngeal mucous membrane can be the site of processes of mainly atrophic type whose causes can be found in various pathologies. These pathologies can be caused by alterations in the endocrin-metabolic conditions, such as vitamin deficiencies, especially of vitamin B12 and folic acid. MATERIALS AND METHODS: Twenty-three patients who on objective examination were affected by mucous atrophies, both of the oral cavity and of the oropharyngeal area probably due to vitamin B12 and/or folic acid deficiency have been identified. Indicatively the therapies prescribed consisted of administration of N5calcium methyltetrahydrofolate for 1 month, and of pharmaceutical products containing vitamin B12, again for 1 month. After a month of therapy, the overall clinical situation of all the patients who were included in our protocol was reassessed. RESULTS AND CONCLUSIONS: On clinical examination, 20 patient showed pink oral mucous membrane. The patients also reported disappearance of pyrotic symptoms and the laboratory tests showed values within normal limits. The erethistic ulcers on the lips had disappeared even if the vermilion did not appear fully re-epithelialized in 9 patients. The other 3 patients, who still had values under normal limits, were subjects who had undergone long-term chemotherapy. For these patients the therapy was continued for a further month. At the third check-up and careful objective examination, the lingual mucous membrane appeared pink and re-epitheliated. The patients reported disappearance of the painful oral symptoms. The laboratory tests were repeated again for all the patients and these confirmed values within normal limits for vitamin B12 and folic acid.