Skin fragility with mottled pigmentation by transport protein Slac2-b anomaly

Epidermolysis bullosa (EB) caused by EXPH5 mutations, is an recently identified and extremely rare subtype. We describe a novel homozygous nonsense mutation in the EXPH5 gene in a 15-year-old woman. EXPH5 encodes the vesicle transport protein &amp;#39;synaptotagmin-like homologue lacking C2 domains B&amp;#39; (Slac2-b, also known as exophilin- 5) and is involved in epidermolysis bullosa simplex with cleavage in the basal cell layer. The phenotype of this case was characterized by mottled pigmentation (MP), which developed when the patient was ten years old. By means of electron microscopy image analysis, we propose a hypothesis for the pigmentary changes associated with Slac-2b anomaly. This patient that we have described is one of the oldest with EXPH5 mutations reported up to now, which possibly allowed for the &amp;#39;lateonset&amp;#39; MP.</p

Optimizing surgical techniques in extra-anatomical ilio-femoral bypasses

Scopul lucrării. Bypass-ul extraanatomic ilio-femural crossover este o procedura chirurgicala utilizată pentru revascularizarea segmentului aorto-femural, când intervențiile endovasculare nu sunt posibile, iar aplicarea unui bypass aorto sau ilio-femural este dificilă sau chiar imposibilă din cauza condițiilor tehnice sau a stării pacientului. Scopul este studierea rezultatelor precoce și tardive pentru favorizarea unor schimbări și implementarea unor gesturi tehnice în aplicarea bypass-urilor crossover ilio-femural, pentru a crea o geometrie cât mai fiziologică ce poate oferi o soluție durabilă pe termen lung. Materiale și metode. Pe parcursul anilor 2001-2022 au fost efectuate 142 bypass-uri crossover ilio-femurale. Rezultate. În perioada postoperatorie a fost un singur deces și s-au efectuat 3 amputații. Au fost analizate duplex scanările și CT angiografiile în primele 12 luni postoperatorii, pentru aprecierea altor leziuni aterosclerotice, care ar necesita revascularizare deschisă s-au endovasculară atît in bazinul recipient cât și cel donator. Totodată, a fost apreciata poziția și forma bypass-ului ce a dus la folosirea ulterioară a unor noi procedee tehnice ce diferă de cele descrise anterior. Concluzii. Optimizarea tehnicilor chirurgicale creând o geometrie cât mai fiziologică, excluderea maximală a angulărilor stenozante ale grefei poate oferi bypass-ului extraanatomic crossover ilio-femural o durabilitate îndelungată. Acest lucru poate favoriza creșterea frecvenței indicațiilor la folosirea bypass-urilor crossover ilio-femural.Aim of study. The extra-anatomic ilio-femoral crossover bypass is a surgical procedure used for revascularizing the aorto-femoral segment when endovascular interventions are not possible, and when applying an aorto- or ilio-femoral bypass is difficult or even impossible due to technical conditions or the patient's condition. The aim was to study the early and late outcomes to promote changes and implement technical gestures in the application of ilio-femoral crossover bypasses, aiming to create a more physiological geometry that can provide a durable long-term solution. Materials and methods. Between 2001 and 2022, a total of 142 ilio-femoral crossover bypasses were performed. Results. There was one death and three amputations in the postoperative period. Duplex scans and CT angiography were analyzed in the first 12 months postoperatively to assess other atherosclerotic lesions that would require open or endovascular revascularization in both the recipient and donor areas. Additionally, the position and shape of the bypass were evaluated, leading to the subsequent use of new technical procedures that differ from those previously described. Conclusions. Optimizing surgical techniques by creating a more physiological geometry and minimizing stenotic angles of the graft can provide the extra-anatomic ilio-femoral crossover bypass with long-lasting durability. This may increase the frequency of indications for using ilio-femoral crossover bypasses

A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments

Many mammals are well adapted to surviving in extremely cold environments. These species have likely accumulated genetic changes that help them efficiently cope with low temperatures. It is not known whether the same genes related to cold adaptation in one species would be under selection in another species. The aims of this study therefore were: to create a compendium of mammalian genes related to adaptations to a low temperature environment; to identify genes related to cold tolerance that have been subjected to independent positive selection in several species; to determine promising candidate genes/pathways/organs for further empirical research on cold adaptation in mammals

Surgical treatment of true popliteal artery aneurysm. Our experience

Scopul lucrării. Anevrismele adevărate ale arterei poplitee (AAP) reprezintă o patologie relativ rar întâlnită, dar insidioasă prin complicațiile sale – tromboza ei și emboliile periferice, ce duce la ischemie severă și chiar la pierderea membrelor inferioare. Scopul este studierea posibilităților și aprecierea metodelor optime de revascularizare a membrului inferior în caz de AAP în baza experienței noastre. Materiale și metode. Studiul cuprinde un lot de 54 pacienți la care s-au efectuat 66 intervenții de revascularizare la 65 de membre inferioare pe parcursul anilor 1995-2022. Diagnosticul a fost stabilit preoperator prin Duplex scanare, DSA sau CT angiografie în majoritatea cazurilor și la 17 pacienți a prezentat o constatare intraoperatorie. În 29 de cazuri pacienții prezentau un tablou clinic de ischemie severă datorită trombozei anevrismului și embolizării patului distal. În 65 din 66 de cazuri s-a recurs la intervenții deschise prin acces medial. Într-un singur caz - la intervenție endovasculară cu instalarea unui stent-graft. Revascularizarea deschisă a constat în instalarea unui bypass cu grefon safen în 48 cazuri. În 17 cazuri s-a recurs la rezectia anevrismului cu protezare safeneană. La 24 pacienți au fost necesare trombectomii indirecte din aa.tibiale. Rezultate. Postoperator s-au efectuat 5 amputații înalte din cauza trombozelor periferice. La pacientul după stentare s-a dezvoltat peste 3 luni tromboza stent-graftului și s-a intervenit cu succes prin protezarea arterei poplitee. Din 65 de membre au fost revascularizate 60. Decese nu au fost. Concluzii. În baza rezultatelor susținem necesitatea diagnosticului și tratamentului chirurgical precoce în cazul AAP, pentru prevenirea complicațiilor trombotice distale des incurabile. Calea de abord chirurgical este mediala. Bypass-ul safenean cu ligaturarea arterei proximal și distal de anevrism este optimal în majoritatea cazurilor, iar rezecția anevrismului cu protezare este impusă numai în cazurile tabloului clinic de comprimare adiacentă.Aim of study. True popliteal artery aneurysms (PAA) are a relatively rare pathology but insidious due to their complications - thrombosis and peripheral embolism, leading to severe ischemia and even limb loss. The objective is to study the possibilities and evaluate optimal methods for lower limb revascularization in cases of PAA based on our experience. Materials and methods. The study included a group of 54 patients who underwent 66 revascularization procedures on 65 lower limbs between 1995 and 2022. The preoperative diagnosis was established using duplex scanning, digital subtraction angiography (DSA), or CT angiography in most cases, with intraoperative findings in 17 patients. In 29 cases, patients presented with severe ischemia due to aneurysm thrombosis and distal embolization. In 65 out of 66 cases, open interventions were performed using a medial approach. In one case, an endovascular intervention with the placement of a stent-graft was performed. Open revascularization consisted of bypass grafting with a saphenous vein graft in 48 cases. In 17 cases, aneurysm resection with saphenous vein grafting was performed. Indirect thrombectomies from the tibial arteries were required in 24 patients. Results. Postoperatively, 5 high-level amputations were performed due to peripheral thrombosis. In the patient who underwent stenting, stent-graft thrombosis developed after 3 months, and successful intervention was performed with popliteal artery grafting. Out of 65 limbs, 60 were successfully revascularized. There were no deaths. Conclusions. Based on the results, we support the necessity of early diagnosis and surgical treatment in cases of PAA to prevent distal thrombotic complications that are often incurable. The medial surgical approach is recommended. Saphenous vein bypass grafting with proximal and distal artery ligation is optimal in most cases, while aneurysm resection with grafting is indicated only in cases of adjacent compression

Solar neutrino measurements in Super-Kamiokande-I

The details of Super--Kamiokande--I's solar neutrino analysis are given. Solar neutrino measurement in Super--Kamiokande is a high statistics collection of $^8$B solar neutrinos via neutrino-electron scattering. The analysis method and results of the 1496 day data sample are presented. The final oscillation results for the data are also presented.Comment: 32pages, 57figures, submitted to Physical Review

Three flavor neutrino oscillation analysis of atmospheric neutrinos in Super-Kamiokande

We report on the results of a three-flavor oscillation analysis using Super-Kamiokande~I atmospheric neutrino data, with the assumption of one mass scale dominance ($\Delta m_{12}^2$$=$0). No significant flux change due to matter effect, which occurs when neutrinos propagate inside the Earth for $\theta_{13}$$\neq$0, has been seen either in a multi-GeV $\nu_e$-rich sample or in a $\nu_\mu$-rich sample. Both normal and inverted mass hierarchy hypotheses are tested and both are consistent with observation. Using Super-Kamiokande data only, 2-dimensional 90 % confidence allowed regions are obtained: mixing angles are constrained to $\sin^2\theta_{13} < 0.14$ and $0.37 < \sin^2\theta_{23} < 0.65$ for the normal mass hierarchy. Weaker constraints, $\sin^2\theta_{13} < 0.27$ and $0.37 < \sin^2\theta_{23} < 0.69$, are obtained for the inverted mass hierarchy case.Comment: 7 figures, 3 table

Limit On the Neutrino Magnetic Moment Using 1496 Days of Super-Kamiokande-i Solar Neutrino Data

A search for a non-zero neutrino magnetic moment has been conducted using 1496 live days of solar neutrino data from {\SK}. Specifically, we searched for distortions to the energy spectrum of recoil electrons arising from magnetic scattering due to a non-zero neutrino magnetic moment. In the absence of clear signal, we found $\mu_{\nu} \leq 3.6 \times 10^{-10}$ $\mu_{B}$ at 90% C.L. by fitting to the Super-Kamiokande day/night spectra. The fitting took into account the effect of neutrino oscillation on the shapes of energy spectra. With additional information from other solar neutrino and KamLAND experiments constraining the oscillation region, a limit of $\mu_{\nu} \leq 1.1 \times 10^{-10}$ $\mu_{B}$ at 90% C.L. was obtained.Comment: 5 pages, 4 figure

Search for Dark Matter WIMPs using Upward Through-going Muons in Super-Kamiokande

We present the results of indirect searches for Weakly Interacting Massive Particles (WIMPs) with 1679.6 live days of data from the Super-Kamiokande detector using neutrino-induced upward through-going muons. The search is performed by looking for an excess of high energy muon neutrinos from WIMP annihilations in the Sun, the core of the Earth, and the Galactic Center, as compared to the number expected from the atmospheric neutrino background. No statistically significant excess was seen. We calculate flux limits in various angular cones around each of the above celestial objects. We obtain conservative model-independent upper limits on WIMP-nucleon cross-section as a function of WIMP mass and compare these results with the corresponding results from direct dark matter detection experiments.Comment: 10 pages, 14 figures, Submitted to Phys. Rev.