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1.
Vavilovskii Zhurnal Genet Selektsii ; 28(2): 131-137, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38680180

ABSTRACT

The bantam gene encodes a vital microRNA and has a complex expression pattern in various tissues at different stages of Drosophila development. This microRNA is involved in the control of normal development of the ocular and wing imaginal discs, the central nervous system, and also in maintaining the undifferentiated state of stem cells in the ovaries of adult females. At the cellular level, bantam stimulates cell proliferation and prevents apoptosis. The bantam gene is a target of several conserved signaling cascades, in particular, Hippo. At the moment, at least ten proteins are known to directly regulate the expression of this gene in different tissues of Drosophila. In this study, we found that the bantam regulatory region contains motifs characteristic of binding sites for DREF, a transcription factor that regulates the expression of Hippo cascade genes. Using transgenic lines containing a full-length bantam lethality-rescuing deletion fragment and a fragment with a disrupted DREF binding site, we show that these motifs are functionally significant because their disruption at the bantam locus reduces expression levels in the larvae and ovaries of homozygous flies, which correlates with reduced vitality and fertility. The effect of DREF binding to the promoter region of the bantam gene on its expression level suggests an additional level of complexity in the regulation of expression of this microRNA. A decrease in the number of eggs laid and a shortening of the reproductive period in females when the DREF binding site in the regulatory region of the bantam gene is disrupted suggests that, through bantam, DREF is also involved in the regulation of Drosophila oogenesis.

2.
J Dent Res ; 102(8): 879-886, 2023 07.
Article in English | MEDLINE | ID: mdl-36908186

ABSTRACT

Diabetes mellitus (DM) is a recognized risk factor for dementia, and increasing evidence shows that tooth loss is associated with cognitive impairment and dementia. However, the effect of the co-occurrence of DM and edentulism on cognitive decline is understudied. This 12-y cohort study aimed to assess the effect of the co-occurrence of DM and edentulism on cognitive decline and examine whether the effect differs by age group. Data were drawn from the 2006 to 2018 Health and Retirement Study. The study sample included 5,440 older adults aged 65 to 74 y, 3,300 aged 75 to 84 y, and 1,208 aged 85 y or older. Linear mixed-effect regression was employed to model the rates of cognitive decline stratified by age cohorts. Compared with their counterparts with neither DM nor edentulism at baseline, older adults aged 65 to 74 y (ß = -1.12; 95% confidence interval [CI], -1.56 to -0.65; P < 0.001) and those aged 75 to 84 y with both conditions (ß = -1.35; 95% CI, -2.09 to -0.61; P < 0.001) had a worse cognitive function. For the rate of cognitive decline, compared to those with neither condition from the same age cohort, older adults aged 65 to 74 y with both conditions declined at a higher rate (ß = -0.15; 95% CI, -0.20 to -0.10; P < 0.001). Having DM alone led to an accelerated cognitive decline in older adults aged 65 to 74 y (ß = -0.09; 95% CI, -0.13 to -0.05; P < 0.001); having edentulism alone led to an accelerated decline in older adults aged 65 to 74 y (ß = -0.13; 95% CI, -0.17 to -0.08; P < 0.001) and older adults aged 75 to 84 (ß = -0.10; 95% CI, -0.17 to -0.03; P < 0.01). Our study finds the co-occurrence of DM and edentulism led to a worse cognitive function and a faster cognitive decline in older adults aged 65 to 74 y.


Subject(s)
Cognitive Dysfunction , Dementia , Diabetes Mellitus , Humans , Aged , Cohort Studies , Diabetes Mellitus/epidemiology , Cognitive Dysfunction/epidemiology , Cognitive Dysfunction/etiology , Risk Factors , Cognition , Dementia/epidemiology , Dementia/etiology
3.
BMC Gastroenterol ; 22(1): 516, 2022 Dec 13.
Article in English | MEDLINE | ID: mdl-36513968

ABSTRACT

BACKGROUND: T1 colorectal cancer (CRC) without histological high-risk factors for lymph node metastasis (LNM) can potentially be cured by endoscopic resection, which is associated with significantly lower morbidity, mortality and costs compared to radical surgery. An important prerequisite for endoscopic resection as definite treatment is the histological confirmation of tumour-free resection margins. Incomplete resection with involved (R1) or indeterminate (Rx) margins is considered a strong risk factor for residual disease and local recurrence. Therefore, international guidelines recommend additional surgery in case of R1/Rx resection, even in absence of high-risk factors for LNM. Endoscopic full-thickness resection (eFTR) is a relatively new technique that allows transmural resection of colorectal lesions. Local scar excision after prior R1/Rx resection of low-risk T1 CRC could offer an attractive minimal invasive strategy to achieve confirmation about radicality of the previous resection or a second attempt for radical resection of residual luminal cancer. However, oncologic safety has not been established and long-term data are lacking. Besides, surveillance varies widely and requires standardization. METHODS/DESIGN: In this nationwide, multicenter, prospective cohort study we aim to assess feasibility and oncological safety of completion eFTR following incomplete resection of low-risk T1 CRC. The primary endpoint is to assess the 2 and 5 year luminal local tumor recurrence rate. Secondary study endpoints are to assess feasibility, percentage of curative eFTR-resections, presence of scar tissue and/or complete scar excision at histopathology, safety of eFTR compared to surgery, 2 and 5 year nodal and/or distant tumor recurrence rate and 5-year disease-specific and overall-survival rate. DISCUSSION: Since the implementation of CRC screening programs, the diagnostic rate of T1 CRC is steadily increasing. A significant proportion is not recognized as cancer before endoscopic resection and is therefore resected through conventional techniques primarily reserved for benign polyps. As such, precise histological assessment is often hampered due to cauterization and fragmentation and frequently leads to treatment dilemmas. This first prospective trial will potentially demonstrate the effectiveness and oncological safety of completion eFTR for patients who have undergone a previous incomplete T1 CRC resection. Hereby, substantial surgical overtreatment may be avoided, leading to treatment optimization and organ preservation. Trial registration Nederlands Trial Register, NL 7879, 16 July 2019 ( https://trialregister.nl/trial/7879 ).


Subject(s)
Colorectal Neoplasms , Neoplasm Recurrence, Local , Humans , Cicatrix/complications , Cicatrix/pathology , Colorectal Neoplasms/pathology , Lymphatic Metastasis , Multicenter Studies as Topic , Neoplasm Recurrence, Local/pathology , Neoplasm Staging , Neoplasm, Residual/pathology , Prospective Studies , Retrospective Studies , Treatment Outcome
4.
Arch Pediatr ; 29(8): 626-629, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36100489

ABSTRACT

Many children with poor access to healthcare are finally admitted in emergency departments. This study describes the knowledge, attitudes, and practice of 161 pediatricians caring for these children. Among the pediatricians, 84 (52.8%) felt under-informed about the performance of the various health insurances, 107 (68.6%) lacked systematic information on the health insurance cover of the children they cared for, and many were unaware of appropriate local resources. Admission to emergency departments can be a way of linking up the healthcare pathway, once provided: systematic assessment of children's access to healthcare, better information and coordination of healthcare professionals' interventions, and several partnerships including social support.


Subject(s)
Emergencies , Pediatricians , Child , Humans , France , Attitude of Health Personnel , Health Knowledge, Attitudes, Practice
5.
Eur J Appl Physiol ; 122(12): 2575-2583, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36074202

ABSTRACT

The objective of this laboratory study was to assess the cardiorespiratory consequences related to the use of different back-support exoskeletons during a repetitive lifting task. Fourteen women and thirteen men performed a dynamic stoop lifting task involving full flexion/extension of the trunk in the sagittal plane. This task was repeated for 5 min with a 10 kg load to handle. Four conditions were tested: with a passive exoskeleton (P-EXO), with two active exoskeletons (A-EXO1 and A-EXO2), as well as without exoskeleton (FREE). The oxygen consumption rate and cardiac costs were measured continuously. Results showed a significantly lower (p < 0.05) oxygen consumption rate for all exoskeletons as compared to FREE (12.6 ± 2.2 ml/kg/min). The values were also significantly lower (p < 0.001) for A-EXO1 (9.1 ± 1.8 ml/kg/min) compared to A-EXO2 (11.0 ± 1.8 ml/kg/min) and P-EXO (11.8 ± 2.4 ml/kg/min). Compared to FREE (59.7 ± 12.9 bpm), the cardiac cost was significantly reduced (p < 0.001) only for A-EXO1 (45.1 ± 11.5 bpm). Several factors can explain these differences on the cardiorespiratory parameters observed between exoskeletons: the technology used (passive vs active), the torque provided by the assistive device, the weight of the system, but also the level of anthropomorphism (related to the number of joints used by the exoskeleton). Our results also highlighted the lack of interaction between the exoskeleton and sex. Thereby, the three back-support exoskeletons tested appeared to reduce the overall physical workload associated with a repetitive lifting task both for men and women.


Subject(s)
Exoskeleton Device , Male , Humans , Female , Lifting , Biomechanical Phenomena , Torque , Oxygen Consumption , Electromyography/methods
6.
Arch Pediatr ; 29(7): 534-536, 2022 Oct.
Article in English | MEDLINE | ID: mdl-36055868

ABSTRACT

In France, units called "Healthcare Access Centers" (Permanences d'Accès aux Soins de Santé; PASS) improve access to the healthcare system for deprived outpatients in hospitals. This study aimed to describe child care in PASS in mainland France in 2019. PASS receive a growing number of children: 23.9% of all newly admitted patients. However, only 6.6% of children receiving care were seen by pediatricians. Social deprivation would receive better attention in pediatric care through the close partnership between PASS and pediatricians or through the direct intervention of the latter in PASS. This improvement also starts with the implementation of wide screening for social vulnerability during the routine medical follow-up of children.


Subject(s)
Health Services Accessibility , Hospitals , France , Humans , Pediatricians
7.
Geophys Res Lett ; 49(13): e2022GL099381, 2022 Jul 16.
Article in English | MEDLINE | ID: mdl-35865735

ABSTRACT

Following the 15 January 2022 Hunga Tonga-Hunga Ha'apai eruption, several trace gases measured by the Aura Microwave Limb Sounder (MLS) displayed anomalous stratospheric values. Trajectories and radiance simulations confirm that the H2O, SO2, and HCl enhancements were injected by the eruption. In comparison with those from previous eruptions, the SO2 and HCl mass injections were unexceptional, although they reached higher altitudes. In contrast, the H2O injection was unprecedented in both magnitude (far exceeding any previous values in the 17-year MLS record) and altitude (penetrating into the mesosphere). We estimate the mass of H2O injected into the stratosphere to be 146 ± 5 Tg, or ∼10% of the stratospheric burden. It may take several years for the H2O plume to dissipate. This eruption could impact climate not through surface cooling due to sulfate aerosols, but rather through surface warming due to the radiative forcing from the excess stratospheric H2O.

8.
Article in English | MEDLINE | ID: mdl-35473713

ABSTRACT

OBJECTIVE: To describe a case of functional tremor occurring after a successful MR-guided focused ultrasound thalamotomy (MRgFUS) for essential tremor. METHODS: A 71-year-old right-handed man with essential tremor was referred to us for consideration of deep brain stimulation surgery for worsening bilateral upper limb tremor after a successful left MRgFUS for essential tremor. RESULTS: On clinical exam, signs compatible with a functional tremor were noted, including entertainability and suppressibility. Electrophysiological studies were consistent with essential tremor and superimposed tremor fulfilling the laboratory-supported criteria for functional tremor. DISCUSSION: We describe the first reported case of a functional movement disorder occurring after successful MRgFUS procedure for essential tremor. Recognising this entity and its development after such therapeutic interventions is essential to avoid further unnecessary invasive therapies.

9.
AJNR Am J Neuroradiol ; 42(10): 1853-1858, 2021 10.
Article in English | MEDLINE | ID: mdl-34615646

ABSTRACT

BACKGROUND AND PURPOSE: Vestibular schwannomas are common cerebellopontine angle tumors arising from the vestibulocochlear nerve and can result in cranial nerve dysfunction. Conventional MR imaging does not provide information that could correlate with cranial nerve compression symptoms of hearing loss or imbalance. We used multitensor tractography to evaluate the relationship between the WM microstructural properties of cranial nerves and tumor volume in a cohort of patients with vestibular schwannomas. MATERIALS AND METHODS: A retrospective study was performed in 258 patients with vestibular schwannomas treated at the Gamma Knife clinic at Toronto Western Hospital between 2014 and 2018. 3T MR images were analyzed in 160 surgically naïve patients with unilateral vestibular schwannomas. Multitensor tractography was used to extract DTI-derived metrics (fractional anisotropy and radial, axial, and mean diffusivities of the bilateral facial and vestibulocochlear nerves [cranial nerves VII/VIII]). ROIs were placed in the transition between cisternal and intracanalicular segments, and images were analyzed using the eXtended Streamline Tractography reconstruction method. Diffusion metrics were correlated with 3D tumor volume derived from the Gamma Knife clinic. RESULTS: DTI analyses revealed significantly higher fractional anisotropy values and a reduction in axial diffusivity, radial diffusivity, and mean diffusivity (all P < .001) within the affected cranial nerves VII and VIII compared with unaffected side. All specific diffusivities (axial, radial, and mean diffusivity) demonstrated an inverse correlation with tumor volume (axial, radial, and mean diffusivity, P < .01). CONCLUSIONS: Multitensor tractography allows the quantification of cranial nerve VII and VIII WM microstructural alterations in patients with vestibular schwannomas. Our findings support the hypothesis that tumor volume may cause microstructural alterations of the affected cranial nerves VII and VIII. This type of advanced imaging may represent a possible avenue to correlate diffusivities with cranial nerve function.


Subject(s)
Neuroma, Acoustic , Cranial Nerves , Facial Nerve , Humans , Neuroma, Acoustic/diagnostic imaging , Retrospective Studies , Tumor Burden , Vestibulocochlear Nerve/diagnostic imaging
10.
Eur J Appl Physiol ; 121(10): 2811-2823, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34173059

ABSTRACT

PURPOSE: Overhead works (OHW) are identified as a major risk factor for shoulder musculoskeletal disorders. The use of upper-limb exoskeletons (EXOUL) is emerging to address these challenges. This research tested the influence of EXOUL design and load on the upper-limb and postural muscles activity, and on the balance control, during OHW. METHODS: This study compared two passive EXOUL, notably differing by the level of assistive torque delivered. Both EXOUL was examined in two load conditions (2 vs. 8 kg). Twenty-nine volunteers performed a static OHW for each condition. RESULTS: Both EXOUL led to similar reductions in shoulder flexor muscle activity (12.3 ± 7.8% of RMSREF), compared to without equipment (29.0 ± 14.2% RMSREF). Both EXOUL resulted in a reduction in the activity of shoulder (3.6 ± 3.2% RMSREF) and wrist (2.4 ± 1.7% RMSREF) extensor muscles (4.9 ± 3.9 and 5.9 ± 6.1% RMSREF, respectively). The use of EXOUL led to reductions in back muscle activity, depending on the exoskeleton design (in % RMSREF, 12.9 ± 9.4 for EXO1, 22.8 ± 12.6 for EXO2 and 32.0 ± 18.4 without equipment). Wearing EXOUL induced changes in balance regulation, depending on both exoskeleton design and load condition. CONCLUSION: The increase of assistive torque was not associated with an increase in EXOUL performance. However, the exoskeleton design (mass, balance, and assistive torque) has to be suitable for the load handled during static OHW to optimize the effects of using an EXOUL on the postural muscles.


Subject(s)
Adaptation, Physiological/physiology , Exoskeleton Device , Postural Balance/physiology , Upper Extremity/physiology , Adult , Biomechanical Phenomena/physiology , Electromyography/methods , Female , Humans , Male , Young Adult
11.
Drugs Today (Barc) ; 57(6): 387-399, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34151905

ABSTRACT

In May of 2019, the adeno-associated virus (AAV)-based gene therapy onasemnogene abeparvovec-xioi (Zolgensma) became the second Food and Drug Administration (FDA)-approved gene therapy with designated use for infants diagnosed with spinal muscular atrophy (SMA). The decision came nearly 10 years after results of the first preclinical models were initially reported. While the journey was an arduous one, the approval was an indication of the remarkable success of the first in-human clinical trials. According to the traditional classification system of autosomal recessive SMA, of which there are multiple types with phenotypic variability, SMA type 1 is the most common and most severe and represents 45% of the SMA patient population. Children with SMA type 1 cannot lift their heads without assistance and do not live past their second birthday. With Zolgensma, the first treated children with SMA type 1 have reached 5 years of age and some of them achieved the ability to sit unassisted or even walk. In this article, we review the work that led to FDA approval with emphasis on the development of preclinical and clinical studies.


Subject(s)
Muscular Atrophy, Spinal , Spinal Muscular Atrophies of Childhood , Biological Products , Child , Genetic Therapy , Humans , Infant , Muscular Atrophy, Spinal/diagnosis , Muscular Atrophy, Spinal/genetics , Muscular Atrophy, Spinal/therapy , Recombinant Fusion Proteins , Spinal Muscular Atrophies of Childhood/therapy , United States , United States Food and Drug Administration
12.
Clin Exp Dermatol ; 46(4): 663-668, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33190296

ABSTRACT

BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant disorder featuring palmoplantar keratoderma, nail dystrophy, oral leucokeratosis, pilosebaceous cysts and natal teeth. PC results from dominant mutations in one of five genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) encoding keratin proteins. AIM: To delineate the clinical and genetic features of PC in a series of Israeli patients. METHODS: We used direct sequencing of genomic DNA, and also used cDNA sequencing where applicable. RESULTS: We collected clinical information and molecular data in a cohort of Israeli families diagnosed with PC (n = 16). Most of the patients were Ashkenazi Jews and had a family history of PC. The most common clinical findings were painful focal plantar keratoderma (94%) accompanied by nail dystrophy (81%), pilosebaceous cysts (31%) and prenatal/natal teeth (13%). In contrast to the high prevalence of KRT6A mutations in other populations, we found that KRT16 mutations were the most common type among Israeli patients with PC (56%). Most (77%) of the Israeli patients with PC with KRT16 mutation carried the same variant (c.380G>A; p.R127H) and shared the same haplotype around the KRT16 locus, suggestive of a founder effect. CONCLUSION: The data gleaned from this study emphasizes the importance of population-specific tailored diagnostic strategies.


Subject(s)
Mutation , Pachyonychia Congenita/epidemiology , Pachyonychia Congenita/genetics , Cohort Studies , Female , Genetics, Population , Genotype , Humans , Israel/epidemiology , Male , Molecular Epidemiology , Phenotype
13.
Transplant Proc ; 52(9): 2688-2692, 2020 Nov.
Article in English | MEDLINE | ID: mdl-32980137

ABSTRACT

BACKGROUND: Cytokine release storm (CRS) is a potentially fatal, hyperinflammatory condition common to both coronavirus disease 2019 (COVID-19) and reactive hemophagocytic lymphohistiocytosis (rHLH). We present our experience with the use of a diagnostic score, developed for rHLH, in a kidney transplant recipient hospitalized with COVID-19. METHODS: We applied the H-Score to risk-stratify our patient to help predict his hospital course. This study was exempt from requiring specific Institutional Review Board approval, but met all the criteria required by our institution for this type of study and report including consent from the patient. RESULTS: The calculated H-Score for our patient fell below the diagnostic cut-off value for rHLH. Because rHLH is characterized by CRS, we expected him to have a milder hospital course with COVID-19. Correlating with his below cut-off H-score, the patient had a more benign than expected hospital course. CONCLUSIONS: Because this is only a single case, we plan to retrospectively review a series of patients to validate our initial experience-that a low H-Score may correlate with a milder hospital course in kidney transplant patients with COVID-19.


Subject(s)
Coronavirus Infections/immunology , Coronavirus Infections/therapy , Immunocompromised Host , Pneumonia, Viral/immunology , Pneumonia, Viral/therapy , Severity of Illness Index , Betacoronavirus , COVID-19 , Cytokine Release Syndrome/diagnosis , Cytokine Release Syndrome/etiology , Humans , Kidney Transplantation , Male , Middle Aged , Pandemics , Prognosis , Retrospective Studies , SARS-CoV-2
14.
Implement Sci Commun ; 1: 44, 2020.
Article in English | MEDLINE | ID: mdl-32885201

ABSTRACT

BACKGROUND: The Healthy, Hunger-Free Kids Act of 2010 (P.L. 111-296) prompted the expansion of federal requirements for local school wellness policies, which aim to improve health promoting practices across school districts in the USA. This qualitative study examined how school district superintendents-as key school leaders who are often listed as the district accountability figure for wellness policies applicable to kindergarten through 12th grade-engaged with wellness policy implementation. The inquiry was guided by evidence-informed implementation and leadership frameworks, including the Consolidated Framework for Implementation Research (CFIR) and "bridging, buffering, and brokering" strategies from education leadership theory. METHODS: We conducted focus groups and interviews with superintendents (n = 39) from 23 states. Interviews were recorded and professionally transcribed; transcripts were team-coded in Atlas.ti v8 using an iteratively revised coding guide that was informed by CFIR, pilot testing, and during weekly analyst meetings. Principles of constant comparative analysis were employed to develop themes. RESULTS: Most superintendents' reported positive perspectives and personal motivations to engage with wellness policy implementation. Within the CFIR process domain, superintendents demonstrated adaptive leadership traits and employed a combination of "bridging, buffering, and brokering" strategies to lead implementation activities. Rather than focus on personal traits, an emphasis on specific strategies highlights actions that may be applied. CONCLUSIONS: The findings offer practical strategies to support superintendents with implementation, as well as a formative contribution to the dearth of theoretical frameworks in school wellness literature, particularly by advancing the specific understanding of leadership roles within a broader implementation framework. The application of education theory allowed for a deeper inquiry into the potential ways that leaders' strategies and engagement influences implementation more broadly.

15.
Nervenarzt ; 91(8): 700-707, 2020 Aug.
Article in German | MEDLINE | ID: mdl-32642945

ABSTRACT

In the past few decades, research on pain and placebo analgesia has gained importance both scientifically and clinically. In this article, the current findings and focus of research as well as the significance of placebo research for assessing the effectiveness of pain medication are illustrated. The underlying mechanisms of placebo analgesia not only have implications for theoretical models but also offer clinically relevant guidelines for everyday interventions in pain treatment. However, many placebo phenomena are not fully understood and have to be investigated further in order to exploit the full potential of placebo effects. Interindividual differences and their inclusion in treatment will play a major role in this aspect.


Subject(s)
Analgesia , Placebo Effect , Humans , Pain/drug therapy , Pain Management
16.
Endoscopy ; 52(11): 1014-1023, 2020 11.
Article in English | MEDLINE | ID: mdl-32498100

ABSTRACT

BACKGROUND: Endoscopic full-thickness resection (eFTR) is a minimally invasive resection technique that allows definite diagnosis and treatment for complex colorectal lesions ≤ 30 mm unsuitable for conventional endoscopic resection. This study reports clinical outcomes from the Dutch colorectal eFTR registry. METHODS: Consecutive patients undergoing eFTR in 20 hospitals were prospectively included. The primary outcome was technical success, defined as macroscopic complete en bloc resection. Secondary outcomes were: clinical success, defined as tumor-free resection margins (R0 resection); full-thickness resection rate; and adverse events. RESULTS : Between July 2015 and October 2018, 367 procedures were included. Indications were difficult polyps (non-lifting sign and/or difficult location; n = 133), primary resection of suspected T1 colorectal cancer (CRC; n = 71), re-resection after incomplete resection of T1 CRC (n = 150), and subepithelial tumors (n = 13). Technical success was achieved in 308 procedures (83.9 %). In 21 procedures (5.7 %), eFTR was not performed because the lesion could not be reached or retracted into the cap. In the remaining 346 procedures, R0 resection was achieved in 285 (82.4 %) and full-thickness resection in 288 (83.2 %). The median diameter of resected specimens was 23 mm. Overall adverse event rate was 9.3 % (n = 34/367): 10 patients (2.7 %) required emergency surgery for five delayed and two immediate perforations and three cases of appendicitis. CONCLUSION : eFTR is an effective and relatively safe en bloc resection technique for complex colorectal lesions with the potential to avoid surgery. Further studies assessing the role of eFTR in early CRC treatment with long-term outcomes are needed.


Subject(s)
Colorectal Neoplasms , Colorectal Neoplasms/surgery , Endoscopy , Humans , Registries , Retrospective Studies , Treatment Outcome
17.
Sci Rep ; 10(1): 5893, 2020 Apr 03.
Article in English | MEDLINE | ID: mdl-32245984

ABSTRACT

It is widely accepted that a signal bandlimited by σ cannot oscillate at higher frequencies. The phenomenon of superoscillation provides a refutation of that quite general belief. Temporal superoscillations have been rarely demonstrated and are mostly treated as a mathematical curiosity. In the present article we demonstrate experimentally for the first time to our best knowledge, the transmission of superoscillating signals through commercial low pass filters. The experimental system used for the demonstration is described, providing the insight into the transmission of superoscillations, or super-narrow pulses. Thus, while the phenomenon may seem rather esoteric, a very simple system is used for our demonstration.

18.
Geophys Res Lett ; 47(24): e2020GL090131, 2020 Dec 28.
Article in English | MEDLINE | ID: mdl-33518832

ABSTRACT

Convectively injected water vapor (H2O) in the North American (NA) summer lowermost stratosphere results in significant outliers in the 100-hPa H2O measurements from the Aura Microwave Limb Sounder (MLS). MLS statistics from 15 years confirm that the NA region contains over 60% of global 100-hPa H2O > 12 ppmv, despite having only ∼1.8% of all MLS observations. A profile sampled in August 2019 stands out, with H 2 O = 26 . 3 ppmv, far exceeding the prior record and the median ∼4.5-ppmv abundance in NA. This particular outlier is associated with a large overshooting convective event (OCE) that spanned multiple U.S. states and persisted for several hours. Colocation of the MLS data over NA with cloud observations from Aqua's Moderate Resolution Imaging Spectroradiometer (MODIS) reveals the unique character of this case, as only 2.3% of MLS profiles are as close to an OCE and only 0.024% of OCEs cover as large an area within a 500-km perimeter of a profile.

19.
Br J Dermatol ; 182(3): 708-713, 2020 03.
Article in English | MEDLINE | ID: mdl-31777952

ABSTRACT

BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17). Characteristic features of PC are painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis and often oral leukokeratosis. Although oral leukokeratosis can go unnoticed, mucosal involvement of the oral cavity and upper airways can manifest with pain during feeding, hoarseness, stridor and, occasionally, life-threatening obstruction. OBJECTIVES: To characterize patients with PC with symptomatic mucosal involvement. METHODS: We present a case series of nine children with PC with symptomatic mucosal involvement, all with heterozygous mutations in KRT6A. Seven patients complained of painful feeding problems. Four patients were diagnosed with failure to thrive, three of whom required a feeding tube. Simple feeding solutions were beneficial in most cases. Seven patients had laryngeal involvement and one patient died at 4 years of age from acute laryngeal obstruction. CONCLUSIONS: It is important for dermatologists and otolaryngologists to be aware that symptomatic mucosal involvement, and very rarely laryngeal obstruction, can occur in patients with PC. Usually simple feeding solutions may prevent complications and failure to thrive. What's already known about this topic? Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis due to a mutation in any one of five keratin genes. Symptomatic mucosal involvement is an important clinical feature of PC and appears to be more pronounced in KRT6A mutation carriers. Only leukokeratosis is frequently seen in PC and can be one of the earliest signs of disease. Laryngeal involvement is a less common feature. It might be symptomatic but usually presents as hoarseness, stridor and, occasionally, as a life-threatening respiratory distress. What does this study add? In most cases of laryngeal involvement, there is no need for any intervention. Although pain and feeding difficulties are usually attributed to the oral leukokeratosis, they can be related to a phenomenon called 'first bite syndrome' (FBS). Symptomatic mucosal involvement with feeding difficulty is important but can be managed in most cases with simple feeding solutions (e.g. softer nipple with a larger hole, thicker formula and feeding with a syringe). Linked Comment: Youssefian and Vahidnezhad. Br J Dermatol 2020; 182:536-537.


Subject(s)
Keratoderma, Palmoplantar , Pachyonychia Congenita , Child , Child, Preschool , Humans , Infant , Keratin-6/genetics , Keratins , Mutation , Pachyonychia Congenita/diagnosis , Pachyonychia Congenita/genetics
20.
BMC Surg ; 19(1): 93, 2019 Jul 16.
Article in English | MEDLINE | ID: mdl-31311545

ABSTRACT

BACKGROUND: This study assessed clinical outcomes, including safety and recurrence, from the two-year follow-up of patients who underwent open ventral primary hernia repair with the use of the Parietex™ Composite Ventral Patch (PCO-VP). METHODS: A prospective single-arm, multicenter study of 126 patients undergoing open ventral hernia repair for umbilical and epigastric hernias with the PCO-VP was performed. RESULTS: One hundred twenty-six subjects (110 with umbilical hernia and 16 with epigastric hernia) with a mean hernia diameter of 1.8 cm (0.4-4.0) were treated with PCO-VP. One hundred subjects completed the two-year study. Cumulative hernia recurrence was 3.0% (3/101; 95%CI: 0.0-6.3%) within 24 months. Median Numeric Rating Scale pain scores improved from 2 [0-10] at baseline to 0 [0-3] at 1 month (P < 0.001) and remained low at 24 months 0 [0-6] (P < 0.001). 99% (102/103) of the patients were satisfied with their repair at 24 months postoperative. CONCLUSIONS: The use of PCO-VP to repair primary umbilical and epigastric defects yielded a low recurrence rate, low postoperative and chronic pain, and high satisfaction ratings, confirming that PCO-VP is effective for small ventral hernia repair in the two-year term after implantation. TRIAL REGISTRATION: The study was registered publically at clinicaltrials.gov ( NCT01848184 registered May 7, 2013).


Subject(s)
Hernia, Ventral/surgery , Herniorrhaphy/instrumentation , Postoperative Complications/epidemiology , Surgical Mesh , Adult , Aged , Female , Follow-Up Studies , Herniorrhaphy/adverse effects , Humans , Male , Middle Aged , Patient Satisfaction , Prospective Studies , Recurrence
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