Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.

Congenital aniridia is a rare genetic disorder characterized by varying degrees of iris hypoplasia that are associated with additional ocular abnormalities. More than 90% of the causal mutations identified are found in the PAX6 gene, a transcription factor of critical importance in the process of neurogenesis and ocular development. Here, we investigate clinical, molecular, and craniofacial features of a large Brazilian family with congenital aniridia. Among the 56 eyes evaluated, phenotype variation encompassed bilateral total aniridia to mild iris defects with extensive variation between eyes of the same individual. PAX6 molecular screening indicated a heterozygous splice mutation (c.141 + 1G>A). Thus, we hypothesize that this splicing event may cause variation in the expression of the wild-type transcript, which may lead to the observed variation in phenotype. Affected individuals were more brachycephalic, even though their face height and cephalic circumference were not significantly different when compared to those of non-affected relatives. From this, we infer that the head shape of affected subjects may also be a result of the PAX6 splice-site mutation. Our data summarize the clinical variability associated with the ocular phenotype in a large family with aniridia, and help shed light on the role of PAX6 in neurocranial development.

Exploring the Role of Caregivers in Day Surgery for Patients Undergoing Plastic and Reconstructive Surgery: A Comprehensive Patient and Caregiver Survey Approach.

This study investigates the interplay between plastic and reconstructive surgery patients and their respective caregivers in the Day Surgery Unit of Policlinico Umberto I, Rome, Italy. Utilizing a dual survey approach, we explored the role in patient safety and the challenges faced by caregivers during the perioperative period. This study, conducted at Policlinico Umberto I, covers all surgical procedures from October to December 2023, encompassing skin cancer removal, fat grafting, scar revisions, hand surgeries, and eyelid surgeries. Patient demographics reflect varying age distributions: 18-39 (4.9%), 40-59 (31.7%), 60-75 (34.1%), and over 76 years (29.3%).

Efficacy of injecting hybrid cooperative complexes of hyaluronic acid for the treatment of vulvar lichen sclerosus: A preliminary study.

BACKGROUND: Lichen sclerosus is a chronic relapsing inflammatory skin disease, which involves most commonly the anogenital region. The gold standard in treatment is ultra-potent topical steroids (clobetasol propionate): it aims at controlling the symptoms, stopping further scarring and distortion, and reducing the risk of cancer. OBJECTIVES: The aim of this preliminary study is to evaluate the efficacy of injecting Hybrid Cooperative Complexes of Hyaluronic Acid (HCC) for the treatment of vulvar lichen sclerosus (VLS). METHODS: Twenty female adult patients (range: 21-78 years), aged over 18, with histopathological diagnosis of lichen sclerosus and good general conditions were enrolled. Patients underwent HCC infiltration every month, for 3 times. Patients were evaluated at baseline (T0) and after one (T1) and six months (T2) after treatment. During every visit, each patient was studied clinically and with videothermography. Itching, burning sensation, pain, and dyspareunia were reported by patients at T0, T1, and T2. The effectiveness of the treatment on patients' quality of life and sexual function was evaluated using the Dermatology Life Quality Index (DLQI) and the Female Sexual Function Index (FSFI) at T0 and at T2. RESULTS: The results of this preliminary study are very promising, in fact, all patients had a significant reduction in most symptoms after 1 and 6 months of HCC treatment. The reduction of patients with itching (p value ≤ 0.001), pain (p value = 0.031), and burning sensation (p = 0.004) at 6 months is significant. The analysis of DLQI scores revealed a significant improvement in patients' quality of life. At baseline, the average score of DLQI (±SD) was 5.89 ± 3.68 while at follow-up it was 3.42 ± 2.36 (p = 0.002). CONCLUSIONS: Our preliminary study has demonstrated the validity and tolerability of HCC infiltrations in patients with VLS, and the effectiveness of HCC in reducing symptoms and, thus, to improve sexuality and patient quality of life.

Strain analysis reveals subtle systolic dysfunction in confirmed and suspected myocarditis with normal LVEF. A cardiac magnetic resonance study.

AIMS: Lake Louise Criteria (LLC) are time-dependent and some acute myocarditis (AM) with preserved left ventricular ejection fraction (LVEF) could be missed, due to the limited accessibility of Cardiac Magnetic Resonance (CMR). We aimed to assess the potential value of cardiac strain measured by feature tracking (FT) imaging in this population. METHODS AND RESULTS: Eighty-three patients with clinically suspected AM and normal LVEF were divided into 39 "confirmed AM" (positive LLC) and 44 "suspected AM" (negative LLC). An age and gender-matched sample of 42 normal subjects underwent CMR. In all groups, FT-derived biventricular strains and STE- global longitudinal strain (GLS) were assessed, being regularly measurable. Strain values < 5th percentile of the control group were considered abnormal. "Suspected" and "confirmed" AM were similar, except for medium time of CMR evaluation (5.2 vs 1 months from presentation, respectively; p = 0.004). Compared to healthy controls, both "suspected" and "confirmed" AM showed significantly impaired strain values. LV-global circumferential strain (GCS), right ventricular GCS and LV-GLS were abnormal in 15.4% and 15.9%, 20.5% and 15.9%, 7.7% and 9.1% in "confirmed" and "suspected" AM, respectively. STE analysis confirmed the results on LV-GLS, however a weak correlation emerged between STE and CMR-FT LV-GLS (p = 0.08). CONCLUSIONS: Compared to STE, CMR-FT analysis provided a more comprehensive and complementary biventricular strain evaluation that resulted similar in "confirmed" and "suspected" AM with normal LVEF. Conversely, mostly biventricular GCS was significantly reduced in up to 20% of patients, compared to healthy controls.

Isolation, follicular density, and culture of preantral follicles of buffalo fetuses of different ages.

The aim of the present study was to determine the most desirable ovarian tissue section thickness to isolate preantral follicles (Experiment I), determine follicular density (follicles/mm(2) of cortex) of ovaries of fetal buffalo of different ages (Experiment II), and cultivate preantral follicles of buffalo fetuses (Experiment III). In Experiment I, ovary sections with different thicknesses (25, 50, 75, and 100 microm) had 415.0+/-285.2, 457.5+/-341.9, 585.0+/-309.3, and 685.0+/-278.8 isolated preantral follicles, respectively. In Experiment II, the follicular density of 46 buffalo fetuses with ages between 3 and 8 months was estimated to be between 0 and 7220, with means of 0.0, 2070.7+/-2190.3, 2570.8+/-1796.6, 2298.1+/-2286.5, 1277.5+/-1074.9, and 643.6+/-543.9 throughout the age range studied. The follicular density of 5-month-old fetuses was greatest, coinciding with the largest number of follicles isolated at this age. In Experiment III, preantral follicles isolated from the ovaries of buffalo fetuses aged from 5 to 9 months old were cultivated individually for 7 days in four different media: basic medium (Minimal Essential Medium (MEM), 10% SFB, kanamycin, pyruvate, glutamine, hypoxanthine) with additional ITS and FSH 0.5mg/ml (treatment 1); basic medium with FSH and EGF 100 ng/ml (treatment 2); basic medium with additional ITS, FSH, and EGF (treatment 3); basic medium supplemented with ITS and EGF (treatment 4). Integrity and morphological features, viability, and increase in diameter of follicles cultured in vitro were evaluated individually with an inverted microscope and an ocular micrometer. The results showed that follicle structure and form were maintained during culture. Growth and survival rates of treatments 1, 2, and 3 over 7 day culture were 23.25+/-17.06, 33.75+/-26.19, and 43.75+/-31.73 microm, and 31.3+/-22.7, 22.06+/-8.13, and 28.92+/-21.32%, respectively. However, neither growth nor survival was observed in treatment 4. In conclusion, this study showed that preantral follicles of buffalo fetuses can be cultured in vitro, and that FSH is essential for follicle survival.

FOREST ECOLOGY. Pervasive drought legacies in forest ecosystems and their implications for carbon cycle models.

The impacts of climate extremes on terrestrial ecosystems are poorly understood but important for predicting carbon cycle feedbacks to climate change. Coupled climate-carbon cycle models typically assume that vegetation recovery from extreme drought is immediate and complete, which conflicts with the understanding of basic plant physiology. We examined the recovery of stem growth in trees after severe drought at 1338 forest sites across the globe, comprising 49,339 site-years, and compared the results with simulated recovery in climate-vegetation models. We found pervasive and substantial "legacy effects" of reduced growth and incomplete recovery for 1 to 4 years after severe drought. Legacy effects were most prevalent in dry ecosystems, among Pinaceae, and among species with low hydraulic safety margins. In contrast, limited or no legacy effects after drought were simulated by current climate-vegetation models. Our results highlight hysteresis in ecosystem-level carbon cycling and delayed recovery from climate extremes.

Brain perfusion abnormalities in drug-naive, lactate-sensitive panic patients: a SPECT study.

Using single photon emission computed tomography (SPECT) and 99mTc-hexamethylpropyleneamine oxime (HM-PAO), we assessed brain perfusion in seven patients with panic disorder (PD) and in five age-matched normal subjects at rest. No patient had ever received drug treatment for panic. All patients were sensitive to lactate-induced panic. Computed tomography (CT) scans did not reveal any morphological abnormalities of the brain in any of the PD patients. Two indices of cerebral perfusion were calculated; these demonstrated alterations of brain perfusion in the PD group. Significant right-left asymmetry was found in the inferior frontal cortex of the PD patients. We also observed a significant blood flow increase in the left occipital cortex and a significant decrease in the hippocampal regions bilaterally. Although the changes seen in the inferior frontal cortex and occipital cortex may be related to anxiety experienced by the patients during the study, the pattern of hippocampal hypoperfusion appears to be characteristic of panic disorder. This suggests that the hippocampal structures may play an important role in the pathophysiology of panic disorder.

Onset of panic disorder.

The situations in which the first panic attack occurred were investigated in 44 patients affected by panic disorder. Although the first panic attack was reported to be unexpected and no avoidance was present before it, 75.8% of patients (N = 22) with panic disorder with agoraphobia had their first panic attack in phobogenic situations, compared with 20% of patients (N = 3) with panic disorder without agoraphobia.

Italian population data on two new short tandem repeat loci: D2S1338 and Penta E.

A population study on two new short tandem repeat (STR) loci D2S1338 (a tetranucleotide repeat) and Penta E (a pentanucleotide repeat) was performed on 208 unrelated Italian Caucasians. The DNA was amplified by polymerase chain reaction (PCR) and separation and detection of the amplified STR fragments were carried out by use of a PE/ABD PRISM 377 DNA Sequencer 377 automated system (Applied Biosystems Division/Perkin-Elmer). Both loci meet Hardy-Weinberg expectations. There is no evidence for departures from expectations between the two loci. The combined Probability of Discrimination and Probability of Exclusion for the two STR loci are 0.999155 and 0.944925, respectively. The results demonstrate that these two regions can be useful for differentiating among individuals, particularly in concert with other STR loci.

A 400-year tree-ring chronology from the tropical treeline of North America.

High-elevation sites in the tropics may be particularly sensitive to rapid climate change. By sampling treeline populations, I have developed the first extensive (> 300 years) tree-ring chronology in tropical North America. The site is Nevado de Colima, at the western end of the Mexican Neovolcanic Belt, and the species studied is Mexican mountain pine (Pinus hartwegii). Despite past logging in the area, 300 to 500-year old pines were found at 3600-3700 m elevation, about 300 m below the present treeline. The Nevado de Colima tree-ring chronology is well replicated from 1600 to 1997. Calibration with Colima climatic records points to summer monsoon precipitation as the strongest dendroclimatic signal. Most trees also exhibit extremely low growth in 1913 and 1914, following the January 1913 Plinian eruption of the Volcan de Colima. Because P. hartwegii is found on top of high mountains from Mexico to Guatemala, there is potential for developing a network of tropical treeline chronologies.

Hip arthroplasty after femoral osteotomy.

Osteotomy of the proximal femur is performed to treat numerous hip pathologies in order to improve the load axis of the coxofemoral joint, thus improving coverage of the femoral head; despite this, arthrosis-related pathology may progress, and this nearly always results in hip arthroplasty. Many authors report that the time interval between osteotomy and arthroplasty is approximately 5 to 10 years. It is the purpose of this study to evaluate the complications and the clinical and radiographic results of hip arthroplasty performed after proximal femoral osteotomy, comparing them with a control group for hip arthroplasty without previous osteotomy.

[Effects of cyclosporine A on the distribution of a glucose load]. / Effetti della ciclosporina A sulla distribuzione di un carico di glucosio.

Cyclosporin A (CsA) is an immunosuppressive drug, but it has also a marked action on carbohydrate metabolism. This study was designed to define the role of a single CsA administration in glucose load distribution. Results show that CsA seems to modify glucose load distribution; in fact it influences considerably glycemia and hepatic, cardiac and muscular glycogen levels, particularly after glucose load. The present experiments suggest that CsA has an antagonist action on insulin release elicited by glucose. This effect may be due to a modification of Ca2+ cellular levels in pancreatic beta-cells. Reduction of insulin release may develop a "pharmacologic diabetes" with metabolism deviated towards gluconeogenesis.

Correlation between environmental parameters and leaf injury in Nicotiana tabacum L. cv. 'Bel-W 3'.

Tobacco plants (Nicotiana tabacum L. cv. 'Bel-W3') were exposed to ambient air for 25 weeks during the 1987 growing season next to an air pollution monitoring station in Brera (Milan, Italy). The research objective was to study the influence of selected environmental parameters on leaf damage in this plant, which is widely used as an ozone indicator. A multiple linear correlation model was estimated between leaf damage and available meteorological and air pollution data. Leaf injury was positively correlated with ozone integrated exposure and temperature, but negatively with vapour pressure deficit. A linear correlation model was used to estimate ozone integrated exposure from the leaf injury index.

Ozone biomonitoring in Northern Italy.

This report presents the results of an ozone monitoring experience performed with tobacco indicator plants (Nicotiana tabacum L. cv. 'Bel-W3'). These bioindicators were exposed to ambient air in 23 sites in Northern Italy from 27 April 1987 to 21 October 1987. Typical ozone-induced leaf necrosis was observed in every site. The percentage increase in injured leaf area was estimated weekly and a Leaf Injury Index (LII) was calculated. The weekly series of LIIs were statistically inspected for spatial and temporal relationships. Sample correlation coefficients were statistically significant for almost every possible pair of sites. The time series properties of ten series of LIIs with no missing data were analyzed using Box-Jenkins models. An autoregressive first order model, or AR(1), was selected to remove the autocorrelation from these series. Linear correlation coefficients between 'prewhitened' (i.e. from which autocorrelation had been removed) pairs of LII series were statistically significant. Hence synchronous variations in leaf necrosis could only be related to the regional diffusion of tropospheric ozone.