Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage.

Women undergoing controlled ovarian hyperstimulation prior to in vitro fertilization (IVF) are treated using various protocols to induce multiple follicular growths. Complete failure of all oocytes to mature during IVF cycles is rare; however, it is a known cause of primary female infertility. Recently, pathogenic variations in a few genes have been identified in women with oocyte maturation defects; however, the underlying genetic causes remain largely unknown.This study included a Turkish family comprising three sisters with recurring oocyte maturation arrest at the germinal vesicle stage after multiple ovarian stimulations. Exome sequencing revealed a homozygous missense variant (c.1037C>T, p.Ala346Val) in the EPAB gene (also known as PABPC1L) in all three affected sisters, which was either absent or heterozygous in the unaffected family members. Functional experiments confirming the pathogenicity of the variant were performed by transfecting HEK293T cells and demonstrated the instability and increased rate of proteolysis of the mutated PABPC1L/EPAB protein. The identified variant, located in the well-conserved fourth RNA recognition motif (RRM4), in silico 3D modelling suggested changes in the physical properties of the pathogenic variant of PABPC1L/EPAB. Our findings validate PABPC1L/EPAB as an essential genetic contributor to the oocyte maturation process in humans and have direct implications for the genetic counselling of patients and their family members.

Sexual dimorphism in Louisiana pine snakes (Pituophis ruthveni).

The Louisiana pine snake, Pituophis ruthveni, is a cryptic, federally threatened snake species with several fragmented populations in Louisiana and Texas, USA. There are currently four captive breeding populations in zoos in the USA; however, little scientific data exists on their life history and anatomy. Accurate sex determination and identification of normal reproductive anatomy are an essential part of a veterinary exam and conservation programs. The authors had encountered various cases of sex misidentification in this species that were attributed to lack of lubrication of the sexing probes and enlarged musk glands. Anecdotal observation led to a hypothesis of sexual dimorphism based on body and tail shape. To test this hypothesis, we measured body length, tail length and width, and body to tail taper angle in 15 P. ruthveni (9 males and 6 females). We also obtained tail radiographs of all animals to document the presence of mineralized hemipenes. Significant dimorphism was identified in relative tail length, width, and taper angle; females consistently exhibited a more acute taper angle. Contrary to previous studies in other Pituophis species, a male-biased sexual size dimorphism was not identified. Mineralized hemipenes were confirmed in all males (a newly described trait in this species), and we found that the lateral view was consistently more reliable for identification of hemipenes compared to the ventrodorsal view. This information contributes to the scientific community's understanding of this species and is of use to biologists and veterinarians working toward conservation of this threatened species.

[Post-traumatic necrosis of the humeral head-Endoprosthesis or joint preservation]. / Posttraumatische Humeruskopfnekrose ­ Endoprothese oder Gelenkerhalt.

BACKGROUND: Humerus fractures play a major role in daily clinical routine, and subsequent osteonecrosis is common after osteosyntheses. OBJECTIVES: The current paper highlights the incidence and cause of osteonecrosis after proximal humerus fractures, with respect to presentation of anatomy and risk factors. METHODS: Display of the literature and therapy options for humerus fracture and subsequent necrosis. RESULTS: Humerus fractures are the seventh most frequent fractures in humans. The complication rate is 40%, and the described rate of necrosis is up to 34%. Accordingly, the surgical revision rate is at 19% according to recent literature. CONCLUSION: The treatment of humerus head fracture must consider numerous variables. The individual type of fracture and the current individual situation of the patient must be included in the process of choosing the right treatment. Modern implants with screw locking features should be used, and for certain circumstances the direct implantation of a prosthesis should be considered. Thereby the expectations of the patient with respect to the postoperative activity level play a major role.

Human bone marrow-derived mesenchymal stem cells rescue neonatal CPAP-induced airway hyperreactivity.

Continuous positive airway pressure (CPAP) is a primary non-invasive mode of respiratory support for preterm infants. However, emerging evidence suggests CPAP could be an underlying contributor to the unintended pathophysiology of wheezing and associated airway hyperreactivity (AHR) in former preterm infants. The therapeutic benefits of mesenchymal stem cells (MSCs) have been demonstrated in a variety of animal models and several clinical trials are currently underway to assess their safety profiles in the setting of prematurity and bronchopulmonary dysplasia (BPD). In the present study, using a mouse model of neonatal CPAP, we investigated whether conditioned medium harvested from cultures of human bone-marrow derived mesenchymal stem cells (hMSC) could rescue the CPAP-induced AHR, based upon previous observations of their anti-AHR properties. Newborn mice (male and female) were fitted with a custom-made mask for delivery of daily CPAP 3 h/day for the first 7 postnatal days. At postnatal day 21 (two weeks after CPAP ended), lungs were removed, precision-cut lung slices were sectioned and incubated for 48 h in vitro in conditioned medium collected from cultures of three different hMSC donors. As expected, CPAP resulted in AHR to methacholine compared to untreated control mice. hMSC conditioned medium from the cultures of all three donors completely reversed AHR. These data reveal potential therapeutic benefits of hMSC therapy, which may be capable of rescuing the long-term adverse effects of neonatal CPAP on human airway function.

[Hypoxic and hypoglycemic brain damage as a result of an adrenal cortex crisis-An important differential diagnosis in cases of unspecific symptoms]. / Hypoxisch-hypoglykämischer Hirnschaden infolge einer Nebennierenrindenkrise ­ eine wichtige Differenzialdiagnose bei unspezifischer Symptomatik.

Acute adrenal cortex insufficiency is a rare disease, which is hard to diagnose because of its diffuse symptoms. Symptoms, such as general weakness, nausea or vomiting, fatigue, hyponatremia, hyperkalemia, hypoglycemia and pronounced hypotension up to shock can be crucial in the diagnosis of an adrenal cortex crisis. The underlying disease of adrenal cortex insufficiency is also characterized by not always obvious symptoms, which are differently expressed depending on whether it is the primary or secondary type.After the diagnosis is made it is important to educate the patients, determine the optimal dosage of the substitution and ensure the compliance of the patients to optimize the further process and avoid an adrenal crisis. An adrenal crisis is one of the reasons for a higher mortality of these patients, which is well-described in the current literature. Descriptions of fatal courses and their reasons are rare; however, knowledge of the disease and the importance of rapid intervention is very important, especially for physicians who work in the emergency room or intensive care unit (ICU).This article reports about a female patient with a known secondary adrenal cortex insufficiency who developed the complete picture of an adrenal crisis. Despite rapid diagnosis and initiation of treatment massive brain damage could not be averted due to hypoxia and hypoglycemia. This case report demonstrates the potential symptoms, in particular a massive hypoglycemia and an initial shock refractory to catecholamine. It also shows the severity of that disease and the importance of rapid treatment even though it is difficult to make the diagnosis.

[Exchange of aniridia IOLs for customized iris IOL implants]. / Austausch von Aniridie-IOL gegen individuelle Iris-IOL-Implantate.

BACKGROUND: Three groups of iris prostheses can be distinguished for the surgical treatment of iris defects: (1) segmental iris implants, (2) combined iris diaphragm intraocular lenses (IOL) and (3) pure iris implants. Most iris reconstructions are accompanied by aphakia correction with secondary IOL implantation. Although the primary goal is to create a pupil and to improve glare perception, contrast sensitivity and visual acuity, the esthetic result is also a relevant component. OBJECTIVE: Functional and esthetic results after replacement of an aniridia IOL implant with a custom-made artificial iris with IOL. MATERIAL AND METHODS: In this retrospective study with seven eyes from seven patients, an iris diaphragm IOL (Morcher GmbH, Stuttgart, Germany) was exchanged for medical reasons (subluxation) against a custom-made artificial iris made of silicone (ArtificialIris, HumanOptics, Erlangen, Germany) in combination with a sutured IOL. The follow-up period was at least 3 months. Best corrected distance visual acuity (BCVA), endothelial cell count (ECC), complications, glare perception as well as esthetic outcome and patient satisfaction were evaluated. RESULTS: The BCVA and ECC showed no statistically significant change between the preoperative and postoperative values (p > 0.05). There was a decentration of the iris IOL implant of 0.27 ± 0.19 mm three months postoperatively. On a visual analogue scale (VAS) from 1 to 10 (1 = not satisfied at all, 10 = extremely satisfied), satisfaction with the overall result was rated 8.6 ± 2.5. Subjective glare perception improved to 5.6 ± 3.5 and subjective esthetic impairment improved to 2.4 ± 2.0 on the VAS (1 = none, 10 = extremely strong). Postoperative complications included transient intraocular hypotonia in two eyes, intraocular pressure increase in two eyes, retinal detachment and transient vitreous hemorrhage in one eye each. Of the seven patients six would repeat the procedure. CONCLUSION: Compared to a rigid aniridia IOL implant, replacement with a custom-made artificial iris in combination with an IOL provides not only a good functional result but simultaneously also an esthetically pleasing result.

Nasopharyngeal versus nasal swabs for detection of SARS-CoV-2: a systematic review.

Nasopharyngeal swabbing (NPS) coupled with RT-PCR is the current gold standard for detecting SARS-CoV-2 infections. However, numerous studies have recently demonstrated the advantages of alternative nasal specimen collection approaches over NPS specifically for COVID-19 diagnosis. The present review was conducted according to PRISMA guidelines and summarises the current literature to give a clear overview of nasal specimen collection methods for SARS-CoV-2 detection. Publications investigating NPS and at least one other form of nasal specimen collection in combination with RT-PCR for viral detection in the context of COVID-19 were assessed. We identified 425 articles and ultimately included 18 studies in this systematic review. The suitable publications evaluated different forms of nasal specimen collection, with anterior nasal swabbing (ANS) and midturbinate swabbing (MTS) being the most frequently examined techniques. The analysed studies report sensitivity and specificity results (67.5-96.2% and 97.9-100.0%, respectively) similar to those achieved via NPS, especially in the early stages of disease or when paired with an oropharyngeal swab. Results from these studies suggest that ANS and MTS are suitable alternatives to NPS for COVID-19 testing. Due to their ease of collection, ANS and MTS collection techniques may facilitate broader testing strategies and allow for economization of medical staff.

[Orbital firearm injuries]. / Orbitale Schussverletzungen.

BACKGROUND: Injuries caused by firearms are fortunately rare in the field of ophthalmology. The treatment of an affected patient is a special challenge both ophthalmologically and emotionally. METHODS: We report on seven consecutive cases of patients with an orbital gunshot injury who presented in a university hospital over a period of 11 years. The course of events leading to the injury with the weapon involved, the type of projectile, the injury pattern, cranial imaging, treatment and course were evaluated. RESULTS: A total of seven cases of injuries caused by firearms could be documented and evaluated in the period 2007-2018. All seven patients were male. The average age was 44 ± 27.5 years. Of the injuries five were caused by a suicide attempt and two by an accident. Firearms were used except for one injury caused by a crossbow. There was a retained projectile in four of the cases, the bullet went through the body in two cases and one of the cases presented with a ricochet shot. The final visual acuity was unilateral amaurosis in 1 case and bilateral amaurosis in another case, 1/35 (measured at 1 m) in 1 case, while it varied between 0.2 and 0.7 in the other 4 cases. No patient died as a direct consequence of the firearm injury. CONCLUSION: Injuries caused by firearms are relatively rare in Germany and mostly have a suicidal background. The pattern of the injury of the ocular structures is very variable. A reconstruction attempt is principally recommended. In the care of patients interdisciplinary cooperation between ophthalmologists and neurosurgeons, orofacial surgeons, ear nose and throat (ENT) surgeons and psychiatrists is necessary.

[Intraoperative OCT in retinal detachment with macular involvement]. / Intraoperative OCT bei Netzhautablösung mit Makulabeteiligung.

BACKGROUND: Intraoperative optical coherence tomography (iOCT) has recently been introduced for the visualization of retinal structures within the operating microscope. OBJECTIVE: The aim of this study was to analyze the behavior of the retina and morphological features during surgery for retinal detachment with macular involvement. METHODS: A retrospective analysis of 41 consecutive eyes with macula-off retinal detachment, which were treated with pars plana vitrectomy (PPV) using iOCT. A qualitative analysis of morphological features of the retina at defined moments during surgery was carried out. RESULTS: The visualization of macular detachment with iOCT was successful in 63% of cases and in the other cases the height of retinal detachment surpassed the maximum depth of the scan by iOCT. With perfluorodecalin 53.7% of eyes showed subretinal fluid and 22% of eyes showed a wave-like configuration of the outer retinal layers. In 61% of the eyes persisting subretinal fluid could be detected under the final tamponade. The amount of subretinal fluid could not be detected intraoperatively with the naked eye. In one case a macular hole could be newly identified intraoperatively and in three cases macular detachment could not be found at the start of surgery, although a detachment had been expected. CONCLUSION: The use of iOCT rarely leads to changes or extension of the intervention; however, it provides real-time information on intraretinal and subretinal fluid, which is sometimes in contrast to the clinical assessment. The relevance of persistent subretinal fluid and folds of the outer retinal layers after surgery remains unclear. It can be speculated whether this could serve as a prognostic factor for the postoperative outcome.

Caffeine prevents prostaglandin E1-induced disturbances in respiratory control in neonatal rats: implications for infants with critical congenital heart disease.

Continuous infusion of prostaglandin E1 (PGE1) is used to maintain ductus arteriosus patency in infants with critical congenital heart disease, but it can also cause central apnea suggesting an effect on respiratory neural control. In this study, we investigated whether 1) PGE1 inhibits the various phases of the acute hypoxic ventilatory response (HVR; an index of respiratory control dysfunction) and increases apnea incidence in neonatal rats; and 2) whether these changes would be reversible with caffeine pretreatment. Whole body plethysmography was used to assess the HVR and apnea incidence in neonatal rats 2 h following a single bolus intraperitoneal injection of PGE1 with and without prior caffeine treatment. Untreated rats exhibited a biphasic HVR characterized by an initial increase in minute ventilation followed by a ventilatory decline of the late phase (~5th minute) of the HVR. PGE1 had a dose-dependent effect on the HVR. Contrary to our hypothesis, the lowest dose (1 µg/kg) of PGE1 prevented the ventilatory decline of the late phase of the HVR. However, PGE1 tended to increase postsigh apnea incidence and the coefficient of variability (CV) of breathing frequency, suggesting increased respiratory instability. PGE1 also decreased brainstem microglia mRNA and increased neuronal nitric oxide synthase (nNOS) and platelet-derived growth factor-ß (PDGF-ß) gene expression. Caffeine pretreatment prevented these effects of PGE1, and the adenosine A2A receptor inhibitor MSX-3 had similar preventative effects. Prostaglandin appears to have deleterious effects on brainstem respiratory control regions, possibly involving a microglial-dependent mechanism. The compensatory effects of caffeine or MSX-3 treatment raises the question of whether prostaglandin may also operate on an adenosine-dependent pathway.

The learning curve of patient-specific unikondylar arthroplasty may be advantageous to off-the-shelf implants: A preliminary study.

INTRODUCTION: Introducing a new arthroplasty system into clinical routine is challenging and could have an effect on early results. Since UKA are known to have failure mechanisms related to technical factors, reliable results and easy adoption are ideal. The question remains whether there are differences in objective procedure parameters in the early learning curve of different UKA systems. METHODS: two different UKA implants (Biomet Oxford[BO] followed by Conformis iuni[CI]) were introduced consecutively into clinical routine. We retrospectively analyzed the first 20 cases of each implant for one arthroplasty surgeon regarding operating time, correction of the mechanical axis, learning curve parameters, and revision rate of implants for 1.5 years postoperatively. RESULTS: Operating time (BO:98.3 ± 26.3min, CI:83.85 ± 21.8min (p < 0.078)), and tourniquet time differed in favor of the CI implant (BO:97.5 ± 29.5min; CI:73.5 ± 33.2 min; p < 0.017)). Mechanical alignment was restored in boths (preop:BO:mean 2.9°varus, CI:2.7°varus, postop:BOmean1.3°varus, CI:1°varus), while one BO patient and two CI patients were overcorrected. Operating time decreased from the first five implants to implants 16-20 for CI (95.2 ± 18.5min to 69 ± 21.5min, p < 0.076) and BO (130.6 ± 27.6min to 78 ± 17.3min, p < 0.009). Within 18 months of follow-up, 2 BO and 1 CI implants were revised. CONCLUSION: The introduction of an UKA implant was associated with longer surgery in both implants. Procedure time seems to differ between implants, while a learning curve was observed regarding instrumentation. CI implants seem to be reliable and adaptable in a medium-volume practice. The early results of this retrospective single-surgeon study were in favor of the individualized implant. Certainly, further studies encompassing larger cohorts with various implants are needed.

Blood and urine biomarkers associated with long-term respiratory dysfunction following neonatal hyperoxia exposure: Implications for prematurity and risk of SIDS.

Former preterm infants, many of whom required supplemental O2 support, exhibit sleep disordered breathing and attenuated ventilatory responses to acute hypoxia (HVR) beyond their NICU stay. There is an increasing awareness that early detection of biomarkers in biological fluids may be useful predictors/identifiers of short- and long-term morbidities. In the present study, we identified serotonin (5-HT), dopamine (DA) and hyaluronan (HA) as three potential biomarkers that may be increased by neonatal hyperoxia and tested whether they would be associated with an impaired HVR in a rat model of supplemental O2 exposure. Neonatal rats (postnatal age (P) 6 days, P6) exposed to hyperoxia (40% FIO2, 24 h/day between P1-P5 days of age) exhibited an attenuated early (1 min), but not the late (4-5 min) phase of the HVR compared to normoxia control rats; the attenuated early phase HVR was associated with increased levels of DA (urine and serum), 5-HT (platelet poor plasma only, PPP), and HA (serum only). At P21, both the early and late phases of the HVR were attenuated, but serum and urine levels of all 3 biomarkers were similar to age-matched control rats. These data indicate that changes in several serum and/or urine biomarkers (5-HT, DA, and HA) following short-term (days) neonatal hyperoxia can signify long-term (weeks) respiratory control dysfunction. Further studies are needed to determine whether early detection of similar biomarkers could be convenient predictors of increased risk of abnormalities in respiratory control including sleep disordered breathing in former preterm infants who had received prior supplemental O2 and who might also be at increased risk of SIDS.

Maternal risk factors and adverse birth outcomes associated with HELLP syndrome: a population-based study.

OBJECTIVES: We assessed the incidence, risk factors and adverse birth outcomes associated with elevated liver enzymes and low platelets (HELLP) syndrome. DESIGN: A retrospective population-based cohort study. SETTING: Canada (excluding Quebec), 2012/2013-2015/2016. POPULATION: Mothers with a singleton hospital live birth or stillbirth at ≥24 weeks' gestation (n = 1 078 323). METHODS: HELLP syndrome was identified using ICD-10-CA diagnostic code from delivery hospitalisation data. We used logistic regression to identify independent risk factors for HELLP syndrome by obtaining adjusted odds ratios (AOR) and 95% confidence intervals (CI), and to assess the associations with adverse outcomes. MAIN OUTCOME MEASURES: Adverse maternal (e.g. eclampsia) and fetal/neonatal outcomes (e.g. intraventricular haemorrhage, perinatal death). RESULTS: The incidence of HELLP syndrome was 2.5 per 1000 singleton deliveries (n = 2663). Risk factors included: age ≥35 years, rural residence, nulliparity, parity ≥4, pre-pregnancy and gestational hypertension and diabetes, assisted reproduction, chronic cardiac conditions, systemic lupus erythematosus, obesity, chronic hepatic conditions, placental disorders (e.g. fetomaternal transfusion) and congenital anomalies. PROM and age <25 years were inversely associated with HELLP syndrome (P-values <0.05). Women with the syndrome had a 10-fold higher maternal mortality (95% CI 1.6-84.3) and elevated severe maternal morbidity (9.6 versus 121.7 per 1000; AOR 12.5, 95% CI 11.1-14.1); and higher perinatal mortality (4.3 versus 21.0 per 1000; AOR 4.5, 95% CI 3.5-5.9) and perinatal mortality/severe neonatal morbidity (21.2 versus 202.4 per 1000; AOR 10.7, 95% CI 9.7-11.8). CONCLUSION: HELLP syndrome is associated with specific pre-pregnancy and pregnancy risk factors, higher rates of maternal death, and substantially higher severe maternal morbidity, perinatal mortality and severe neonatal morbidity. TWEETABLE ABSTRACT: HELLP syndrome is associated with higher maternal death rate, and substantially higher severe maternal and neonatal morbidity, and perinatal mortality.

[Handball injuries and their prevention]. / Verletzungen und deren Prävention beim Handball.

BACKGROUND: Handball is one of the most popular team sports in Germany, as well as one of the most dangerous ones. Injury rates in Germany are higher amongst handball professionals than in soccer, with the knee being the most commonly injured joint. To prevent injuries, a functional inert stability is necessary, but definitions and objective measures are lacking. OBJECTIVES: Establishing valid reference data of functional knee stability in amateur handball players with use of an established test battery giving objective measures METHODS: 261 athletes (f:130; m:131), mean age 25.1 ± 5.8 y were screened during the preseason. The test battery consisted of double and single-leg counter movement jumps, balance tests, agility, parkour, quick feet test and plyometric jumps. RESULTS: Significant differences between males and females were noted in regard to balance scores (favour for females p ≤ 0.001), as well as jump height, agility and speed tests (favour for males [p ≤ 0.002-0.001]). CONCLUSION: The noted differences once again bring focus to the interindividual presence of risk factors, because female and male handball athletes have gender-specific ground levels. These attributes have to be considered in further screening and prevention programs, as well as in the context of the return-to-sports decision after injury. The given data may serve as objective reference measures.

Who cares? The impact on caregivers of suspected mining-related lung cancer.

Background: In the present study, we investigated the emotional, physical, financial, occupational, practical, and quality-of-life impacts on caregivers of patients with mining-related lung cancer. Methods: This concurrent, embedded, mixed-methods study used individual in-depth qualitative interviews and the 36-item Short Form Health Survey (version 2: RAND Corporation, Santa Monica, CA, U.S.A.) quality-of-life measure with 8 caregivers of patients with suspected mining-related lung cancer who had worked in Sudbury or Elliot Lake (or both), and sometimes elsewhere. Individuals who assist workers in filing compensation claims were also interviewed in Sudbury and Elliot Lake. Interviews (n = 11) were transcribed and analyzed thematically. Results: Caregiver themes focused on the long time to, and the shock of, diagnosis and dealing with lung cancer; not much of a life for caregivers; strong views about potential cancer causes; concerns about financial impacts; compensation experiences and long time to compensation; and suggestions for additional support. Quality-of-life scores were below the norm for most measures. Individuals who assist workers in preparing claims were passionate about challenges in the compensation journey; the requirement for more and better family support; the need to focus on compensation compared with cost control; the need for better exposure monitoring, controls, resources, and research; and job challenges, barriers, and satisfaction. Conclusions: Caregivers expressed a need for more education about the compensation process and for greater support. Worker representatives required persistence, additional workplace monitoring and controls, additional research, and a focus on compensation compared with cost control. They also emphasized the need for more family support.

Role of the Streptomyces spore wall synthesizing complex SSSC in differentiation of Streptomyces coelicolor A3(2).

A crucial stage of the Streptomyces life cycle is the sporulation septation, a process were dozens of cross walls are synchronously formed in the aerial hyphae in a highly coordinated manner. This process includes the remodeling of the spore envelopes to make Streptomyces spores resistant to detrimental environmental conditions. Sporulation septation and the synthesis of the thickened spore envelope in S. coelicolor A3(2) involves the Streptomyces spore wall synthesizing complex SSSC. The SSSC is a multi-protein complex including proteins directing peptidoglycan synthesis (MreBCD, PBP2, Sfr, RodZ) and cell wall glycopolymer synthesis (PdtA). It also includes two eukaryotic like serin/threonine protein kinases (eSTPK), PkaI and PkaH, which were shown to phosphorylate MreC. Since unbalancing phosphorylation activity by either deleting eSTPK genes or by expressing a second copy of an eSTPK gene affected proper sporulation, a model was developed, in which the activity of the SSSC is controlled by protein phosphorylation.

Color Regression and Maintenance Effect of Intracoronal Whitening on the Quality of Life: RCT-A One-year Follow-up Study.

OBJECTIVE:: This randomized clinical study evaluated two parameters: 1) the clinical color rebound of whitening patients' tooth discoloration using the walking bleaching technique and 2) the impact on psychological and aesthetic self-perception at the one-year follow-up of patients who underwent bleaching of nonvital teeth. METHODS AND MATERIALS:: Fifty study participants with nonvital tooth discoloration were recruited. Teeth were assigned randomly into one of two groups: 1) 35% hydrogen peroxide (n=25) and 2) 37% carbamide peroxide (n=25). Intracoronal bleaching was carried out over the course of four sessions using the walking bleach technique. Tooth color was evaluated after each session in order to measure the total color variation (ΔE). The guide was arranged from highest (B1) to lowest values (C4) for evaluating color, and color changes using Vita Classical Shade (ΔSGUs) units were calculated. Subjective and objective assessments were compared with the counterpart of the tooth. Aesthetic perception and psychosocial factors were evaluated before and after treatment by the Oral Health Impact Profile (OHIP) and Psychological Impact of Dental Impact Questionnaire (PIDAQ) surveys. RESULTS:: Color changes (ΔE) were 15.48 ± 5.17 and 14.02 ± 4.85 for carbamide and hydrogen peroxide groups, respectively. There were no significant differences ( p>0.05) between these two groups at the one-year follow-up. There was a decrease in the PIDAQ scores after treatment compared to baseline values ( p<0.05). The majority of OHIP values regressed to baseline values. CONCLUSION:: The technique of walking bleaching was highly effective and showed minimal color rebound in nonvital teeth and had a positive effect on patients' psychological impact at the one-year follow-up.

[Big data and deep learning in preventive and rehabilitation medicine]. / Big Data und maschinelles Lernen bei Prävention und Rehabilitation.

The digitalization in medicine has led to almost universal availability of information to different healthcare professionals and accelerated clinical pathways. Fast-track concepts and short hospital stays require intelligent and practicable systems in preventive and rehabilitation medicine. This includes optimization of movement analysis by innovative tools such as detectors sensing skin movements, portable feedback systems for monitoring, robot-assisted devices, and prevention programs based on reliable data. Finally, clinical structures are needed to exploit the maximal potential of artificial intelligence (AI) and deep learning. One example is the establishment of inter- and transdisciplinary professional teams such as a RehaBoard. In contrast to other cost-intensive disciplines such as oncology, the introduction of AI into rehabilitation orthopedics and trauma surgery with the support of cross-sectoral cooperation has great potential for performing well in patient benefit-orientated competition (value-based competition).

Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease.

BACKGROUND: The X-linked Fabry disease (FD) is a multiorgan disorder due to alpha-galactosidase A (α-GAL) deficiency with consequent lysosomal accumulation of globotriaosylceramide (Gb3). We established the immunocytochemical detection of Gb3 in blood cells of FD patients as a new method for FD diagnostics, follow-up and treatment control. METHODS: We enrolled 67 FD patients (37 men, 30 women) and 52 healthy controls (26 men, 26 women). PBMC were isolated from whole venous blood and 3x105 cells were immunoreacted with antibodies against CD77 as a marker for Gb3. Using fluorescence microscopy, the mean percentage of Gb3 positive PBMC was determined by an investigator blinded to subject allocation. As a second method, we qualitatively assessed Gb3 positive cells in blood smears. RESULTS: Gb3 deposits were unequivocally visible in PBMC and in blood smears. Men (P < 0.001) and women (P < 0.01) with classical FD had more Gb3-positive PBMC than healthy controls, whose samples only occasionally showed positive cells. The number of Gb3 positive PBMC was negatively correlated with α-GAL activity and positively correlated with plasma lyso-Gb3 levels. Only the PBMC Gb3 load but not plasma lyso-Gb3 reflected short- and long-term effects of enzyme replacement therapy (P < 0.01). CONCLUSIONS: Gb3 can be visualized in PBMC and blood smears and can be used as a novel marker for diagnostics, follow-up and treatment control in FD.