Technique and outcome of day case laparoscopic hiatus hernia surgery for small and large hernias: a five-year retrospective review from a high-volume UK centre.

INTRODUCTION: Laparoscopic anti-reflux surgery is the standard surgical treatment for gastro-oesophageal reflux disease in patients for who long-term pharmacotherapy is intolerable or ineffective. Advances in anaesthesia and minimally invasive surgery have led to day case treatment being adopted by some centres. The objective of this study is to describe our day case pathway and peri- and postoperative outcomes. MATERIALS AND METHODS: This is a single centre, retrospective case series review of a prospectively collected database from October 2014 to August 2019 performed in a tertiary centre for upper gastrointestinal surgery. Data collected included demographics, comorbidities, indications, complications, length of stay and readmission. RESULTS: A total of 362 patients underwent laparoscopic anti-reflux surgery with or without hiatus hernia repair of up to 10cm, with day case rates of 59%. Unplanned admission following day surgery was 5.1% (13/225) and 30-day readmission was 2.2% (8/362); 90.6% of patients remained in hospital for less than 24 hours. There was one intraoperative complication and one patient required revisional surgery within 30 days. The rate of all postoperative complications was 1.38% (5/362) with one postoperative mortality. DISCUSSION: The inclusion of larger hernias is unusual, as most studies limit size to 5cm or less. Our results show the safety and feasibility of the procedure even when applied to hiatus hernias up to 10cm. Success was multifactorial and based on standardisation of procedures and support from dedicated specialist nursing staff. CONCLUSION: Laparoscopic anti-reflux surgery can be performed safely as a day case procedure even in larger hiatus hernias, with a dedicated care pathway and specialist nurse practitioners to support it.

Anestesia en paciente pediátrico con síndrome de Rohhad / Anesthesia in a pediatric patient with ROHADD syndrome

El síndrome obesidad de rápida progresión, hipoventilación alveolar, disfunción hipotalámica y disregulación autonómica (ROHHAD) es una entidad infrecuente caracterizada por un comienzo en niños sanos a los 2-4 años. Se trata de un síndrome complejo caracterizado por una rápida ganancia de peso con hiperfagia, disfunción hipotalámica, hipoventilación central y disregulación autonómica, entre otros síntomas. Presentamos el caso de un niño de 10 años con diagnóstico de síndrome de ROHHAD a quien se colocó un porth-a-cath bajo anestesia general y que desarrolló complicaciones durante el procedimiento anestésico relacionadas con su enfermedad. El manejo perioperatorio de estos pacientes supone todo un reto para el anestesista dada la afectación de múltiples sistemas y las frecuentes comorbilidades respiratorias que asocian. Se resumen algunas de las implicaciones y consideraciones anestésicas que hay que tener en cuenta en el manejo de estos pacientes

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare entity that is characterised by its onset in healthy children at 2-4 years of age. It is a complex syndrome that includes, among other symptoms, rapid weight gain with hyperphagia, hypothalamic dysfunction, central hypoventilation, and autonomic dysregulation. The case is presented of a 10-year-old boy with a diagnosis of ROHHAD syndrome undergoing insertion of a port-a-cath under general anaesthesia, who developed complications during the anaesthetic procedure related to his illness. The peri-operative management of these patients represents a challenge for the anaesthetist, given the involvement of multiple systems and the frequent respiratory comorbidities associated with them. A summary is presented of some of the implications and anaesthetic considerations that must be taken into account in the management of these patients

Anesthesia in a pediatric patient with ROHADD syndrome. / Anestesia en paciente pediátrico con síndrome de Rohhad.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome is a rare entity that is characterised by its onset in healthy children at 2-4 years of age. It is a complex syndrome that includes, among other symptoms, rapid weight gain with hyperphagia, hypothalamic dysfunction, central hypoventilation, and autonomic dysregulation. The case is presented of a 10-year-old boy with a diagnosis of ROHHAD syndrome undergoing insertion of a port-a-cath under general anaesthesia, who developed complications during the anaesthetic procedure related to his illness. The peri-operative management of these patients represents a challenge for the anaesthetist, given the involvement of multiple systems and the frequent respiratory comorbidities associated with them. A summary is presented of some of the implications and anaesthetic considerations that must be taken into account in the management of these patients.

Proactive multi-modality treatment of Pancreatic Neuroendocrine Tumours (PNETs): Potential survival benefits.

BACKGROUND/OBJECTIVES: Primary and metastatic pancreatic neuroendocrine tumours (PNET) can be treated with combination of surgery, locoregional and systemic therapy. Survival benefits from individual treatments have been well reported, however, the combined outcome from multimodal treatments are not well described in the literature. We report outcomes in a cohort of PNET patients treated with proactive, multimodality therapy. METHODS: 106 patients were identified from a single tertiary referral centre prospective database. Outcomes of treatment were studied, with the primary end point being death from any cause. RESULTS: Median follow-up was 71 months and overall 5-year survival of 62%. In patients with stage I-III disease (51 patients) estimated 5-year survival was 90%. Median survival in patients with stage IV disease was 51 months with an estimated 5-year survival of 40% in this group. A total of 80 patients (75%) had surgery of which 16% suffered complications requiring intervention. There was no perioperative mortality. CONCLUSIONS: This study demonstrates that proactive multimodal treatment is safe and may confer a survival benefit to patients in this cohort compared to historical data.

Comparison of polystyrene scintillator fiber array and monolithic polystyrene for neutron imaging and radiography.

The neutron imaging diagnostic at the National Ignition Facility has been operating since 2011 generating neutron images of deuterium-tritium (DT) implosions at peak compression. The current design features a scintillating fiber array, which allows for high imaging resolution to discern small-scale structure within the implosion. In recent years, it has become clear that additional neutron imaging systems need to be constructed in order to provide 3D reconstructions of the DT source and these additional views need to be on a shorter line of sight. As a result, there has been increased effort to identify new image collection techniques that improve upon imaging resolution for these next generation neutron imaging systems, such as monolithic deuterated scintillators. This work details measurements performed at the Weapons Neutron Research Facility at Los Alamos National Laboratory that compares the radiographic abilities of the fiber scintillator with a monolithic scintillator, which may be featured in a future short line of sight neutron imaging systems.

Probing plasmons in three dimensions by combining complementary spectroscopies in a scanning transmission electron microscope.

The nanoscale optical response of surface plasmons in three-dimensional metallic nanostructures plays an important role in many nanotechnology applications, where precise spatial and spectral characteristics of plasmonic elements control device performance. Electron energy loss spectroscopy (EELS) and cathodoluminescence (CL) within a scanning transmission electron microscope have proven to be valuable tools for studying plasmonics at the nanoscale. Each technique has been used separately, producing three-dimensional reconstructions through tomography, often aided by simulations for complete characterization. Here we demonstrate that the complementary nature of the two techniques, namely that EELS probes beam-induced electronic excitations while CL probes radiative decay, allows us to directly obtain a spatially- and spectrally-resolved picture of the plasmonic characteristics of nanostructures in three dimensions. The approach enables nanoparticle-by-nanoparticle plasmonic analysis in three dimensions to aid in the design of diverse nanoplasmonic applications.

Some surprising facts about (the problem of) surprising facts (from the Dusseldorf Conference, February 2011).

A common intuition about evidence is that if data x have been used to construct a hypothesis H, then x should not be used again in support of H. It is no surprise that x fits H, if H was deliberately constructed to accord with x. The question of when and why we should avoid such "double-counting" continues to be debated in philosophy and statistics. It arises as a prohibition against data mining, hunting for significance, tuning on the signal, and ad hoc hypotheses, and as a preference for predesignated hypotheses and "surprising" predictions. I have argued that it is the severity or probativeness of the test--or lack of it--that should determine whether a double-use of data is admissible. I examine a number of surprising ambiguities and unexpected facts that continue to bedevil this debate.

[Aging effects on lexical access. The tip-of-the-tongue phenomenon on proper names]. / Efectos del envejecimiento en el acceso al léxico. El fenómeno de la punta de la lengua ante los nombres propios.

INTRODUCTION: The tip-of-the-tongue (TOT) phenomenon is one of the most frequent complaints in aging, especially with reference to the proper names retrieval. Previous experimental studies focussed on comparing extreme age groups and they used strategic search paradigms that impede the processing knowledge. AIMS: To analyze TOT frequency and resolution in the normal process of aging. SUBJECTS AND METHODS: 140 participants aged from 19 to 82 performed an experiment of production of famous people' names from their definitions, and 36 participants aged from 20 to 80 performed other similar experiment from pictures. Data were analyzed using a linear general model with vocabulary level and processing speed as covariables. RESULTS: Adults aged from 50 produced more TOTs than young adults and the TOTs' increase was higher in adults from 70 years independently of their vocabulary level. Older adults resolved fewer TOTs than young adults but phonological priming improved TOTs resolution. CONCLUSION: Aging weakens activation in the proper names retrieval process but phonological priming increases the activation and improves lexical access.

Efectos del envejecimiento en el acceso al léxico. El fenómeno de la punta de la lengua ante los nombres propios / Aging effects on lexical access. The tip-of-the-tongue phenomenon on proper names

Introducción. El fenómeno de la punta de la lengua (PDL)es una de las quejas subjetivas de memoria más frecuentes en laspersonas mayores, especialmente con relación a los nombres propios.Los estudios experimentales previos se han centrado en lacomparación de grupos de edad extremos y han utilizado paradigmasde búsqueda estratégica que impiden conocer bien el proceso.Objetivo. Analizar la incidencia y resolución de la PDL en nombrespropios en el proceso normal de envejecimiento. Sujetos ymétodos. 140 participantes con edades comprendidas entre 19 y 82años realizaron un experimento de evocación de nombres de personajesfamosos a partir de definiciones y otros 36 participantes de20 a 80 años realizaron un experimento parecido a partir de fotografías.Se incorporaron tareas de evocación libre de palabras y defacilitación fonológica. Los datos se analizaron con un modelo linealgeneral, introduciendo como covariables el nivel de vocabularioy la velocidad de procesamiento. Resultados. A partir de los 50años, los adultos producen más PDL en los nombres propios quelos jóvenes, siendo mayor este incremento a partir de los 70 años.El incremento de PDL es independiente del nivel de vocabulario.Los mayores tienen más dificultades para resolver los PDL que losjóvenes. La facilitación fonológica parece ayudarlos en la resolución.Conclusión. El envejecimiento debilita el proceso de activaciónnecesario para la recuperación de los nombres propios, perola presentación de facilitadores fonológicos contribuye a mejorarel nivel de activación

Introduction. The tip-of-the-tongue (TOT) phenomenon is one of the most frequent complaints in aging, especiallywith reference to the proper names retrieval. Previous experimental studies focussed on comparing extreme age groups andthey used strategic search paradigms that impede the processing knowledge. Aims. To analyze TOT frequency and resolutionin the normal process of aging. Subjects and methods. 140 participants aged from 19 to 82 performed an experiment ofproduction of famous people’ names from their definitions, and 36 participants aged from 20 to 80 performed other similarexperiment from pictures. Data were analyzed using a linear general model with vocabulary level and processing speed ascovariables. Results. Adults aged from 50 produced more TOTs than young adults and the TOTs’ increase was higher in adultsfrom 70 years independently of their vocabulary level. Older adults resolved fewer TOTs than young adults but phonologicalpriming improved TOTs resolution. Conclusion. Aging weakens activation in the proper names retrieval process but phonologicalpriming increases the activation and improves lexical access

Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics.

Familial Alzheimer's disease (AD [MIM 104300]) has been a focus of intense investigation, primarily in Caucasian families from Europe and North America families. Although the late-onset form of familial AD, beginning after age 65 years, has been linked to regions on chromosomes 10q and 12p, the specific genetic variants have not yet been consistently identified. Using a unique cohort of families of Caribbean Hispanics ancestry, we screened the genome using 340 markers on 490 family members from 96 families with predominantly late-onset AD. We observed the strongest support for linkage on 18q (LOD=3.14). However, 17 additional markers (chromosomes 1-6, 8, 10, 12, and 14) exceeded a two-point LOD score of 1.0 under the affecteds-only autosomal dominant model or affected sibpair model. As we previously reported the fine-mapping effort on 12p showing modest evidence of linkage, we focused our fine-mapping efforts on two other candidate regions in the current report, namely 10q and 18q. We added 31 family members and eight additional Caribbean Hispanic families to fine map 10q and 18q. With additional microsatellite markers, the evidence for linkage for 18q strengthened near 112 cM, where the two-point LOD score for D18S541 was 3.37 and the highest NPL score in that region was 3.65 (P=0.000177). This narrow region contains a small number of genes expressed in the brain. However, at 10q (134-138 cM), the NPL score decreased from 3.15 (P=0.000486) to 2.1 (P=0.0218), but two broad peaks remained overlapping with previously reported peaks. Our results provide modest support for linkage on 10q and 12p in this cohort of Caribbean Hispanic families with familial Alzheimer's disease, and strong evidence for a new locus on 18q.

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease.

Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) of HD. It is not known whether the normal Huntington allele size influences the relation between the expanded repeat and AO of HD. Data collected from two independent cohorts were used to test the hypothesis that the unexpanded CAG repeat interacts with the expanded CAG repeat to influence AO of HD. In the New England Huntington Disease Center Without Walls (NEHD) cohort of 221 HD affected persons and in the HD-MAPS cohort of 533 HD affected persons, we found evidence supporting an interaction between the expanded and unexpanded CAG repeat sizes which influences AO of HD (P = 0.08 and 0.07, respectively). The association was statistically significant when both cohorts were combined (P = 0.012). The estimated heritability of the AO residual was 0.56 after adjustment for normal and expanded repeats and their interaction. An analysis of tertiles of repeats sizes revealed that the effect of the normal allele is seen among persons with large HD repeat sizes (47-83). These findings suggest that an increase in the size of the normal repeat may mitigate the expression of the disease among HD affected persons with large expanded CAG repeats.

Chromosome-12 mapping of late-onset Alzheimer disease among Caribbean Hispanics.

Linkage to chromosome 12p for familial Alzheimer disease (AD) has been inconsistent. Using 35 markers near the centromere of chromosome 12, we investigated 79 Caribbean Hispanic families with AD. Two-point linkage analysis using affected sib pairs yielded LOD scores of 3.15 at D12S1623 and 1.43 at D12S1042. The LOD score at D12S1623 decreased to 1.62 in families with late-onset (age >65 years) AD (LOAD), but the LOD score at D12S1042 was unchanged. Among families negative for the apolipoprotein E (APOE-epsilon 4) allele, the LOD score for D12S1623 was lower (1.01), whereas that for D12S1042 increased to 1.73. Among families positive for the APOE-epsilon 4 allele, none of the LOD scores reached 1. Multipoint affected-relative-pair analysis showed peaks at D12S1623 (nonparametric linkage [NPL] score 1.52; P=.028) and near D12S1042, at D12S1057 (NPL score 1.57; P=.027). NPL scores for both D12S1623 and D12S1057 increased in families affected with LOAD, but, in APOE-epsilon 4-negative families, only scores for the region flanking D12S1623 remained elevated (NPL score 1.74; P=.013). This study of Caribbean Hispanics with familial AD extends and provides modest evidence of linkage to loci on chromosome 12p. Linkage varied by age at onset of AD and by the presence or absence of the APOE-epsilon 4 allele.

A phylogenetic approach to following West Nile virus in Connecticut.

The 1999 outbreak of West Nile (WN) virus in the northeastern United States was the first known natural occurrence of this flavivirus in the Western Hemisphere. In 1999 and 2000, 82 independent Connecticut WN virus isolates were cultured from nine species of birds, five species of mosquitoes, and one striped skunk. Nucleotide sequences obtained from these isolates identified 30 genetic changes, compared with WN-NY99, in a 921-nt region of the viral genome beginning at nucleotide position 205 and ending at 1125. This region encodes portions of the nucleocapsid and envelope proteins and includes the entire coding regions for the premembrane and membrane proteins. Amino acid changes occurred at seven loci in six isolates relative to the WN-NY99 strain. Although 34 of the isolates showed sequences identical to the WN-NY99 isolate, we were able to show geographical-based clusters of mutations. In particular, 26 isolates were characterized by mutation of C to T at position 858. This group apparently originated in Stamford, CT and disseminated to sites located as far as 54 miles from Stamford. Sequences of WN virus isolated from both brain and heart tissues from the same avian host were identical in all 14 tested individual birds, suggesting that the mutations we have documented are real and not caused by culture, RNA extraction, or PCR procedures. We conclude that this portion of the viral genome will enable us to follow the geographical and temporal movement of variant WN virus strains as they adapt to North America.

West Nile virus surveillance in Connecticut in 2000: an intense epizootic without high risk for severe human disease.

In 1999, Connecticut was one of three states in which West Nile (WN) virus actively circulated prior to its recognition. In 2000, prospective surveillance was established, including monitoring bird deaths, testing dead crows, trapping and testing mosquitoes, testing horses and hospitalized humans with neurologic illness, and conducting a human seroprevalence survey. WN virus was first detected in a dead crow found on July 5 in Fairfield County. Ultimately, 1,095 dead crows, 14 mosquito pools, 7 horses, and one mildly symptomatic person were documented with WN virus infection. None of 86 hospitalized persons with neurologic illness (meningitis, encephalitis, Guillain-Barré-like syndrome) and no person in the seroprevalence survey were infected. Spraying in response to positive surveillance findings was minimal. An intense epizootic of WN virus can occur without having an outbreak of severe human disease in the absence of emergency adult mosquito management.

Avulsion fracture of the origin of the brachioradialis muscle.

Avulsion fracture of the brachioradialis muscle from its origin on the lateral supracondylar ridge of the humerus has not previously been reported in the literature. In this article, we present the case of a patient who sustained a grade I open avulsion fracture of the lateral supracondylar ridge of the humerus. The mechanism by which this fracture occurred is proposed on the basis of the structure and function of the brachioradialis muscle.

Daily catheter-directed single dosing of t-PA in treatment of acute deep venous thrombosis of the lower extremity.

The strong fibrin affinity of recombinant tissue plasminogen activator (rt-PA) theoretically obviates continuous infusion or replacement of t-PA after direct intrathrombic injection. This hypothesis led the authors to evaluate single daily catheter-directed injection of rt-PA as a thrombolytic treatment for acute deep vein thrombosis of the lower extremity. Once-daily injection of rt-PA was performed in large thrombosed veins (popliteal or larger) with use of pulse-spray catheters and in small thrombosed veins in patients' calves with use of 3-4-F coaxial catheters. Patients received only full systemic anticoagulation on his/her patient care unit. This dosing regimen has been tested in 10 patients (12 legs) with a maximum dose of 50 mg per leg per day. Extensive thrombolysis was achieved in nine patients and partial thrombolysis was achieved in one patient, at an average total dose of 106 mg of rt-PA per leg. Minor bleeding was seen in three patients and no transfusions were needed. Our technique and the rationale for this pilot study is the focus of this article.